List of variants in gene BMPR1A reported as likely pathogenic by GeneDx

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001406583.1(BMPR1A):c.676-6del	rs1064796072
NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs)	rs1064795654
NM_004329.3(BMPR1A):c.1347del (p.Ile449fs)	rs1589293414
NM_004329.3(BMPR1A):c.143dup (p.Thr49fs)	rs1554888114
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)	rs786201040
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)	rs587782494
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)	rs199476087
NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs)	rs1554886815
NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)	rs1554890743

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.