ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic by Center for Genomic Medicine,Kyoto University Graduate School of Medicine

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.1277-10_1277-9insGGG rs886039220
NM_001204.7(BMPR2):c.1443_1445del (p.Glu481del) rs886039221
NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) rs886039222
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) rs886039219
NM_001204.7(BMPR2):c.172_173AT[3] (p.Leu59fs) rs886039223
NM_001204.7(BMPR2):c.853-2A>G rs863223424

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.