ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_001204.7(BMPR2):c.1342del (p.Asp448fs) rs1559070248
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.1506del (p.Glu503fs) rs1553512523
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.712C>T (p.Gln238Ter) rs1559062859

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.