ClinVar Miner

List of variants in gene LMNA studied for myocardial disorder

Included ClinVar conditions (32):

Acute coronary syndrome
Acute myocardial infarction
Atrial conduction disease
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block, type 1A; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10
Conduction system disorder
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibility to
Encephalitis; Episodic vomiting; Recurrent fever; Myocarditis
Facial hypertrichosis; Congenital laryngomalacia; Dystonic disorder; Stridor; Bulbar palsy; Sick sinus syndrome; Progressive neurologic deterioration; Central apnea; Abnormal muscle fiber morphology; Motor neuron atrophy; Central hypotonia; Abnormal synaptic transmission
Familial sick sinus syndrome
Febrile seizure (within the age range of 3 months to 6 years); Macrocephaly; Ventriculomegaly; Myocarditis
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to
Myocardial infarction
Myocardial infarction; Headache; Rigidity; Vertigo; Myotonia of the upper limb; EMG: myotonic discharges
Myocarditis
Primary dilated cardiomyopathy; Cardiac arrhythmia; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome; Brugada syndrome; Sick sinus syndrome
Primary dilated cardiomyopathy; Myocarditis
Progressive familial heart block, type 1A
Sick sinus syndrome
Sick sinus syndrome 1
Sick sinus syndrome 2, autosomal dominant
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18
Sick sinus syndrome 2, autosomal dominant; Epilepsy, idiopathic generalized, susceptibility to, 18
Sick sinus syndrome 3, susceptibility to
Sick sinus syndrome 4
Sinoatrial node disorder
Sinoatrial node disorder; Brugada syndrome; Cardiac arrest

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.324del (p.Val109fs)
NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly)	rs869025458
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)	rs397517912

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.