ClinVar Miner

List of variants in gene BMPR2 reported as uncertain significance for Primary pulmonary hypertension

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP
NM_001204.6(BMPR2):c.*1268_*1269delCT rs886055476
NM_001204.6(BMPR2):c.*1401C>T rs886055477
NM_001204.6(BMPR2):c.*2035C>T rs886055478
NM_001204.6(BMPR2):c.*241C>T rs886055473
NM_001204.6(BMPR2):c.*2491T>C rs773528113
NM_001204.6(BMPR2):c.*2854T>G rs752981394
NM_001204.6(BMPR2):c.*2901delA rs547796478
NM_001204.6(BMPR2):c.*3061A>G rs538597276
NM_001204.6(BMPR2):c.*3354G>T rs886055481
NM_001204.6(BMPR2):c.*3446G>A rs528232781
NM_001204.6(BMPR2):c.*3498dupA rs368593665
NM_001204.6(BMPR2):c.*3554C>T rs886055483
NM_001204.6(BMPR2):c.*3794T>C rs886055484
NM_001204.6(BMPR2):c.*4034_*4037delTTTA rs200801079
NM_001204.6(BMPR2):c.*454G>A rs775197956
NM_001204.6(BMPR2):c.*4584T>A rs542632689
NM_001204.6(BMPR2):c.*4821G>C rs571330474
NM_001204.6(BMPR2):c.*5038T>A rs886055486
NM_001204.6(BMPR2):c.*5111dupA rs886055487
NM_001204.6(BMPR2):c.*5154C>T rs886055488
NM_001204.6(BMPR2):c.*5198A>C rs886055489
NM_001204.6(BMPR2):c.*5408G>T rs886055490
NM_001204.6(BMPR2):c.*5522C>T rs886055491
NM_001204.6(BMPR2):c.*5624A>G rs570949250
NM_001204.6(BMPR2):c.*5781A>G rs886055492
NM_001204.6(BMPR2):c.*6505C>G rs886055493
NM_001204.6(BMPR2):c.*686C>G rs886055475
NM_001204.6(BMPR2):c.*700T>C rs765518565
NM_001204.6(BMPR2):c.*7080G>A rs886055494
NM_001204.6(BMPR2):c.*7162delA rs760686079
NM_001204.6(BMPR2):c.*7505T>G rs773296242
NM_001204.6(BMPR2):c.*7750G>T rs761151583
NM_001204.6(BMPR2):c.*77A>G rs886055472
NM_001204.6(BMPR2):c.*79delA rs886055471
NM_001204.6(BMPR2):c.-1114A>C rs886055458
NM_001204.6(BMPR2):c.-407G>T rs886055468
NM_001204.6(BMPR2):c.-575A>T rs550462760
NM_001204.6(BMPR2):c.-594A>G rs886055467
NM_001204.6(BMPR2):c.-702C>T rs886055466
NM_001204.6(BMPR2):c.-70G>T rs765364075
NM_001204.6(BMPR2):c.-753C>T rs886055465
NM_001204.6(BMPR2):c.-837G>T rs886055464
NM_001204.6(BMPR2):c.-871G>A rs886055463
NM_001204.6(BMPR2):c.-922C>T rs886055462
NM_001204.6(BMPR2):c.-927_-924delAGCAinsGGCGGCGGCGGCG rs886055461
NM_001204.6(BMPR2):c.-930_-928delGGC rs375624016
NM_001204.6(BMPR2):c.-933G>A rs562633536
NM_001204.6(BMPR2):c.1042G>A (p.Val348Ile) rs201067849
NM_001204.6(BMPR2):c.1066A>T (p.Met356Leu) rs1085307293
NM_001204.6(BMPR2):c.1117G>C (p.Ala373Pro) rs1085307299
NM_001204.6(BMPR2):c.1276G>A (p.Gly426Arg) rs869025367
NM_001204.6(BMPR2):c.1302G>A (p.Met434Ile) rs759257550
NM_001204.6(BMPR2):c.1414-3C>T rs199623676
NM_001204.6(BMPR2):c.1481C>T (p.Ala494Val) rs2229778
NM_001204.6(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.6(BMPR2):c.1516A>G (p.Met506Val) rs370457339
NM_001204.6(BMPR2):c.1598A>G (p.His533Arg) rs1085307368
NM_001204.6(BMPR2):c.1766A>G (p.Tyr589Cys) rs199915496
NM_001204.6(BMPR2):c.1862C>A (p.Thr621Lys) rs147943794
NM_001204.6(BMPR2):c.2296A>G (p.Thr766Ala) rs758990535
NM_001204.6(BMPR2):c.2352C>T (p.Val784=) rs767560978
NM_001204.6(BMPR2):c.2618G>A (p.Arg873Gln) rs201781338
NM_001204.6(BMPR2):c.266G>C (p.Gly89Ala) rs1085307200
NM_001204.6(BMPR2):c.276A>C (p.Gln92His) rs140683387
NM_001204.6(BMPR2):c.2887G>T (p.Gly963Cys) rs146027217
NM_001204.6(BMPR2):c.292G>A (p.Glu98Lys) rs1085307204
NM_001204.6(BMPR2):c.340C>T (p.Arg114Cys) rs1553503554
NM_001204.6(BMPR2):c.461C>G (p.Ala154Gly) rs373414709
NM_001204.6(BMPR2):c.673C>T (p.Arg225Cys) rs1349280349
NM_001204.6(BMPR2):c.708C>T (p.Asn236=) rs886055470
NM_001204.6(BMPR2):c.818T>G (p.Met273Arg) rs1085307264
NM_001204.6(BMPR2):c.901T>C (p.Ser301Pro) rs876657748
NM_001204.6(BMPR2):c.954A>C (p.Glu318Asp) rs1037042104
NM_001204.6(BMPR2):c.968-5A>G rs1060502584

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.