rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs2754158
|
|
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 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
rs2754158
|
|
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 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.
|
25086479 |
2015 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
|
25741868 |
2015 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
|
24793961 |
2014 |
rs2754158
|
|
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 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
A systematic approach to assessing the clinical significance of genetic variants.
|
24033266 |
2013 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
|
24093860 |
2013 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
|
21267010 |
2011 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Impact of QT variables on clinical outcome of genotyped hypertrophic cardiomyopathy.
|
19149795 |
2009 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene].
|
16938236 |
2006 |
rs2754158
|
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
rs2754158
|
|
Hypertrophic Cardiomyopathy
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs2754158
|
|
Hypertrophic Cardiomyopathy
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs2754158
|
|
Hypertrophic Cardiomyopathy
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.
|
28498465 |
2017 |
rs2754158
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs2754158
|
|
Hypertrophic Cardiomyopathy
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
rs2754158
|
|
Hypertrophic Cardiomyopathy
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
rs2754158
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
|
27247418 |
2016 |
rs2754158
|
|
Hypertrophic Cardiomyopathy
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.
|
25086479 |
2015 |