rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
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 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing.
|
24298987 |
2014 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.
|
23054336 |
2013 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
|
23233322 |
2013 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A systematic approach to assessing the clinical significance of genetic variants.
|
24033266 |
2013 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
|
21267010 |
2011 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
|
18414213 |
2008 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene mutations in apical hypertrophic cardiomyopathy.
|
16267253 |
2005 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.
|
12566107 |
2003 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
rs3218713
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |