Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607557
rs267607557
LMNA
C 0.700 CausalMutation CLINVAR Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases. 29211919

2018
dbSNP: rs28933093
rs28933093
LMNA
A 0.700 CausalMutation CLINVAR Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins. 29432544

2018
dbSNP: rs397517912
rs397517912
LMNA
A 0.700 GeneticVariation CLINVAR Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation. 29095976

2018
dbSNP: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 29943882

2018
dbSNP: rs1228406418
rs1228406418
LMNA
A 0.700 CausalMutation CLINVAR Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. 27876398

2017
dbSNP: rs267607555
rs267607555
LMNA
T 0.700 CausalMutation CLINVAR Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. 28641778

2017
dbSNP: rs267607555
rs267607555
LMNA
T 0.700 CausalMutation CLINVAR Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation. 28620495

2017
dbSNP: rs267607555
rs267607555
LMNA
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs267607557
rs267607557
LMNA
C 0.700 CausalMutation CLINVAR Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene. 29770364

2017
dbSNP: rs267607571
rs267607571
LMNA
A 0.700 CausalMutation CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588

2017
dbSNP: rs267607573
rs267607573
LMNA
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs267607578
rs267607578
LMNA
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs386134243
rs386134243
LMNA
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs386134243
rs386134243
LMNA
T 0.700 CausalMutation CLINVAR Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. 27723096

2017
dbSNP: rs397517912
rs397517912
LMNA
A 0.700 GeneticVariation CLINVAR Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. 29367541

2017
dbSNP: rs56816490
rs56816490
LMNA
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs56984562
rs56984562
LMNA
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs56984562
rs56984562
LMNA
A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs58013325
rs58013325
LMNA
GC 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs58596362
rs58596362
LMNA
T 0.700 CausalMutation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017
dbSNP: rs61444459
rs61444459
LMNA
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. 29237675

2017
dbSNP: rs794728591
rs794728591
LMNA
T 0.700 CausalMutation CLINVAR Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing. 28878402

2017
dbSNP: rs864309525
rs864309525
LMNA
C 0.700 CausalMutation CLINVAR Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. 27876398

2017
dbSNP: rs267607554
rs267607554
LMNA
T 0.700 CausalMutation CLINVAR The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling. 27421120

2016