rs56984562
|
|
|
0.810 |
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 |
rs56984562
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs267607578
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
rs267607578
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Systematic identification of pathological lamin A interactors.
|
24623722 |
2014 |
rs267607578
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
|
24375749 |
2014 |
rs267607578
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
|
23183350 |
2013 |
rs56984562
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs267607578
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
rs267607578
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).
|
22177269 |
2012 |
rs267607578
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).
|
22177269 |
2012 |
rs28933093
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
rs56984562
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
rs56984562
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
|
21085127 |
2011 |
rs56984562
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
|
21085127 |
2011 |
rs267607578
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
rs267607578
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
rs267607578
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
|
19167105 |
2010 |
rs28933093
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
|
19167105 |
2010 |
rs28933093
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
rs56984562
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
|
19167105 |
2010 |
rs56984562
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
rs56984562
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
|
19167105 |
2010 |
rs267607578
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
18585512 |
2008 |
rs267607578
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |
rs28933093
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |