ClinVar Miner

List of variants in gene BMPR1A reported as likely pathogenic for Juvenile polyposis syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NC_000010.11:g.(?_86755016)_(86756919_?)del
NC_000010.11:g.(?_86755016)_(86757045_?)del
NC_000010.11:g.(?_86838866)_(86838981_?)del
NC_000010.11:g.(?_86838866)_(86843510_?)del
NC_000010.11:g.(?_86912230)_(86919479_?)del
NM_004329.2(BMPR1A):c.-1_2del (p.Met1del) rs1589757037
NM_004329.2(BMPR1A):c.115_116insA (p.Ser39fs) rs587783038
NM_004329.2(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.2(BMPR1A):c.1342+2T>G rs1589292746
NM_004329.2(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.231-1G>C rs1564715427
NM_004329.2(BMPR1A):c.675+1G>C rs878854672
NM_004329.2(BMPR1A):c.868+1G>A rs1589290813
NM_004329.2(BMPR1A):c.869-2_871del rs1564724111
NM_004329.3(BMPR1A):c.1167-2A>G
NM_004329.3(BMPR1A):c.230+1G>A
NM_004329.3(BMPR1A):c.3G>T (p.Met1Ile)
NM_004329.3(BMPR1A):c.531-1G>T rs1589288524

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.