List of variants in gene BMPR1A reported as pathogenic for Hereditary cancer-predisposing 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: 93

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HGVS	dbSNP	gnomAD frequency
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)	rs764466442	0.00001
NM_004329.2(BMPR1A):c.-152-?_1473+?del
NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter)	rs1554891075
NM_004329.3(BMPR1A):c.1058_1059dup (p.Gly354fs)	rs1131691184
NM_004329.3(BMPR1A):c.1061del (p.Gly354fs)	rs1554891089
NM_004329.3(BMPR1A):c.1064del (p.Lys355fs)	rs2133592586
NM_004329.3(BMPR1A):c.1065del (p.Lys355fs)	rs1564724278
NM_004329.3(BMPR1A):c.1095del (p.Ser365fs)	rs1589291774
NM_004329.3(BMPR1A):c.1101del (p.Asn367fs)	rs1554891102
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
NM_004329.3(BMPR1A):c.1131_1132delinsACCTGGAG (p.Cys377_Ile378delinsTer)
NM_004329.3(BMPR1A):c.1183del (p.Asp395fs)	rs1843664957
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)	rs1131691181
NM_004329.3(BMPR1A):c.1245_1246dup (p.Ser416fs)	rs1554891331
NM_004329.3(BMPR1A):c.1267C>T (p.Gln423Ter)
NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs)	rs2133395056
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
NM_004329.3(BMPR1A):c.1322dup (p.Arg442fs)
NM_004329.3(BMPR1A):c.1346_1359delinsAGAATACCCT (p.Ile449fs)
NM_004329.3(BMPR1A):c.1354G>T (p.Glu452Ter)
NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter)	rs1554891570
NM_004329.3(BMPR1A):c.1401C>A (p.Tyr467Ter)	rs149787558
NM_004329.3(BMPR1A):c.1460G>A (p.Trp487Ter)	rs1131691175
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)	rs786201040
NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter)	rs878854664
NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter)	rs1392086533
NM_004329.3(BMPR1A):c.160del (p.Asp54fs)	rs1131691183
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)	rs1564714834
NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer)	rs786201038
NM_004329.3(BMPR1A):c.189C>A (p.Cys63Ter)	rs1413243663
NM_004329.3(BMPR1A):c.199_203dup (p.Asp69fs)	rs1554888134
NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)	rs786203157
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val)	rs786203157
NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)	rs786201501
NM_004329.3(BMPR1A):c.246C>A (p.Cys82Ter)	rs759647230
NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter)	rs730881431
NM_004329.3(BMPR1A):c.271C>T (p.Gln91Ter)	rs878854667
NM_004329.3(BMPR1A):c.275del (p.Gly92fs)	rs1554888317
NM_004329.3(BMPR1A):c.275dup (p.Glu93fs)
NM_004329.3(BMPR1A):c.286_289dup (p.Ala97fs)	rs869312783
NM_004329.3(BMPR1A):c.300T>A (p.Cys100Ter)
NM_004329.3(BMPR1A):c.309T>G (p.Tyr103Ter)	rs876658891
NM_004329.3(BMPR1A):c.325del (p.Gln109fs)	rs1554888329
NM_004329.3(BMPR1A):c.360del (p.Thr121fs)	rs1064794031
NM_004329.3(BMPR1A):c.364del (p.Thr121_Ile122insTer)
NM_004329.3(BMPR1A):c.367del (p.Glu123fs)	rs1131691173
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)	rs199476087
NM_004329.3(BMPR1A):c.371G>A (p.Cys124Tyr)	rs587782388
NM_004329.3(BMPR1A):c.373T>G (p.Cys125Gly)	rs1131691180
NM_004329.3(BMPR1A):c.388T>C (p.Cys130Arg)	rs1131691168
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter)	rs2133454296
NM_004329.3(BMPR1A):c.3G>A (p.Met1Ile)	rs869312758
NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)	rs869312758
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)	rs876660442
NM_004329.3(BMPR1A):c.419_420del (p.Pro140fs)
NM_004329.3(BMPR1A):c.420del (p.Val141fs)	rs786201715
NM_004329.3(BMPR1A):c.430+1G>A	rs1843283551
NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs)	rs1131691179
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)	rs1554886816
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter)	rs1131691178
NM_004329.3(BMPR1A):c.458G>A (p.Trp153Ter)	rs1131691176
NM_004329.3(BMPR1A):c.481del (p.Ala161fs)	rs1131691172
NM_004329.3(BMPR1A):c.534_535insAAAT (p.Tyr179fs)
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter)	rs1131691185
NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter)	rs1564721929
NM_004329.3(BMPR1A):c.586_592del (p.Asp196fs)
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)	rs1554886821
NM_004329.3(BMPR1A):c.674del (p.Leu225fs)	rs1564722014
NM_004329.3(BMPR1A):c.676-1G>A	rs1554890734
NM_004329.3(BMPR1A):c.68-1G>A	rs1131691174
NM_004329.3(BMPR1A):c.68-1G>C	rs1131691174
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)	rs587782682
NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)	rs1554890743
NM_004329.3(BMPR1A):c.699_700del (p.Gln233fs)
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter)	rs759363072
NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter)	rs1131691182
NM_004329.3(BMPR1A):c.767_777del (p.Glu256fs)
NM_004329.3(BMPR1A):c.793dup (p.Thr265fs)
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)	rs587782400
NM_004329.3(BMPR1A):c.824_825del (p.Thr275fs)	rs1589290779
NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs)	rs587781928
NM_004329.3(BMPR1A):c.874dup (p.Ile292fs)	rs1554891016
NM_004329.3(BMPR1A):c.880del (p.Ala294fs)
NM_004329.3(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer)	rs876659988
NM_004329.3(BMPR1A):c.889A>T (p.Lys297Ter)
NM_004329.3(BMPR1A):c.905G>A (p.Trp302Ter)	rs1589291548
NM_004329.3(BMPR1A):c.934del (p.His312fs)	rs1060503408
NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs)	rs1060503409
NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer)	rs1554891044
NM_004329.3(BMPR1A):c.964A>T (p.Lys322Ter)	rs1131691167
NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs)	rs1554891056
NM_004329.3(BMPR1A):c.989_992dup (p.Leu332fs)

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