Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56984562
rs56984562
LMNA
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
dbSNP: rs56984562
rs56984562
LMNA
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR Systematic identification of pathological lamin A interactors. 24623722

2014
dbSNP: rs267607578
rs267607578
LMNA
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
dbSNP: rs267607578
rs267607578
LMNA
A 0.810 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
dbSNP: rs56984562
rs56984562
LMNA
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs267607578
rs267607578
LMNA
0.810 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012
dbSNP: rs267607578
rs267607578
LMNA
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
dbSNP: rs267607578
rs267607578
LMNA
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
dbSNP: rs28933093
rs28933093
LMNA
0.810 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012
dbSNP: rs56984562
rs56984562
LMNA
0.810 GeneticVariation UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012
dbSNP: rs56984562
rs56984562
LMNA
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
dbSNP: rs56984562
rs56984562
LMNA
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
dbSNP: rs267607578
rs267607578
LMNA
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
dbSNP: rs267607578
rs267607578
LMNA
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
dbSNP: rs267607578
rs267607578
LMNA
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
dbSNP: rs28933093
rs28933093
LMNA
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
dbSNP: rs28933093
rs28933093
LMNA
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
dbSNP: rs56984562
rs56984562
LMNA
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
dbSNP: rs56984562
rs56984562
LMNA
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
dbSNP: rs56984562
rs56984562
LMNA
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
dbSNP: rs267607578
rs267607578
LMNA
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
dbSNP: rs267607578
rs267607578
LMNA
0.810 GeneticVariation UNIPROT Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. 18606848

2008
dbSNP: rs28933093
rs28933093
LMNA
0.810 GeneticVariation UNIPROT Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. 18606848

2008