ClinVar Miner

List of variants in gene BMPR2 reported as uncertain significance for Pulmonary arterial hypertension; Mitral valve prolapse; Right ventricular hypertrophy; Pulmonary artery dilatation; Right ventricular dilatation; Elevated right atrial pressure; Increased pulmonary vascular resistance; Right bundle branch block

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031

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.