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

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: 45

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HGVS	dbSNP	gnomAD frequency
NM_004329.3(BMPR1A):c.1231G>A (p.Glu411Lys)	rs786202611	0.00001
NC_000010.10:g.(88659884_88671996)_(88679227_88681276)del
NC_000010.10:g.(?_88671987)_(88683476_?)del
NC_000010.11:g.(?_86912230)_(86919479_?)del
NM_004329.3(BMPR1A):c.-1_2del (p.Met1del)	rs1589757037
NM_004329.3(BMPR1A):c.1126dup (p.Cys376fs)	rs2133593716
NM_004329.3(BMPR1A):c.1166+1G>A	rs2133594398
NM_004329.3(BMPR1A):c.1166+2T>C	rs750011688
NM_004329.3(BMPR1A):c.1342+2T>C	rs1589292746
NM_004329.3(BMPR1A):c.1342+2T>G	rs1589292746
NM_004329.3(BMPR1A):c.1343-2A>G	rs2133619660
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)	rs2539648615
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)	rs199476089
NM_004329.3(BMPR1A):c.1411del (p.Arg471fs)	rs2539648971
NM_004329.3(BMPR1A):c.1473_1473+4del	rs2539650152
NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)	rs786203157
NM_004329.3(BMPR1A):c.230+1G>A	rs1843128744
NM_004329.3(BMPR1A):c.231-1G>C	rs1564715427
NM_004329.3(BMPR1A):c.231-2A>G	rs774357141
NM_004329.3(BMPR1A):c.333+1G>A
NM_004329.3(BMPR1A):c.333+2T>A	rs2133409163
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)	rs587782494
NM_004329.3(BMPR1A):c.370T>A (p.Cys124Ser)	rs199476087
NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr)	rs587782388
NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)	rs869312758
NM_004329.3(BMPR1A):c.430+1G>T	rs1843283551
NM_004329.3(BMPR1A):c.430G>C (p.Gly144Arg)	rs876658573
NM_004329.3(BMPR1A):c.430_430+55del	rs2539491669
NM_004329.3(BMPR1A):c.431-1G>A	rs2539493292
NM_004329.3(BMPR1A):c.431-1G>C	rs2539493292
NM_004329.3(BMPR1A):c.431-2A>T	rs2539493276
NM_004329.3(BMPR1A):c.530+1G>T	rs2539496182
NM_004329.3(BMPR1A):c.531-1G>T	rs1589288524
NM_004329.3(BMPR1A):c.614C>A (p.Ser205Ter)	rs2539573512
NM_004329.3(BMPR1A):c.67+2T>C	rs2539351347
NM_004329.3(BMPR1A):c.675+1G>C	rs878854672
NM_004329.3(BMPR1A):c.675+1G>T	rs878854672
NM_004329.3(BMPR1A):c.675+2T>C	rs2539574977
NM_004329.3(BMPR1A):c.675_675+1delinsTT
NM_004329.3(BMPR1A):c.676-1G>C	rs1554890734
NM_004329.3(BMPR1A):c.676-2A>G	rs2539602383
NM_004329.3(BMPR1A):c.68-1G>A	rs1131691174
NM_004329.3(BMPR1A):c.868+1G>A	rs1589290813
NM_004329.3(BMPR1A):c.869-2_871del	rs1564724111
NM_004329.3(BMPR1A):c.916del (p.Tyr306fs)	rs2539618159

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