ClinVar Miner

List of variants in gene CACNB2 reported as uncertain significance for ventricular fibrillation

Included ClinVar conditions (16):

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; 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
Brugada syndrome 1; Long QT syndrome 3; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10
Cardiac arrhythmia; Sudden cardiac death; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve
Cardiomyopathy; Ventricular fibrillation
Paroxysmal familial ventricular fibrillation
Primary dilated cardiomyopathy; Atrial septal defect; Ventricular fibrillation; Noncompaction cardiomyopathy
Primary dilated cardiomyopathy; Ventricular fibrillation, paroxysmal familial, type 1
Prolonged QT interval; Ventricular fibrillation
Syncope; Ventricular fibrillation
Ventricular fibrillation
Ventricular fibrillation, paroxysmal familial, 2
Ventricular fibrillation, paroxysmal familial, 2; Intellectual disability, autosomal dominant 33
Ventricular fibrillation, paroxysmal familial, type 1
Ventricular fibrillation; Cardiac arrest; Breast carcinoma; Paroxysmal atrial fibrillation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_201596.3(CACNB2):c.334-8C>T	rs374465425	0.00006
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=)	rs730880058	0.00001

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.