ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 164
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442 0.00001
NC_000010.10:g.(?_88598623)_(88635852_?)del
NC_000010.10:g.(?_88598623)_(88659889_?)del
NC_000010.10:g.(?_88651874)_(88651996_?)del
NC_000010.10:g.(?_88659541)_(88659893_?)del
NC_000010.10:g.(?_88669791)_88681457del
NC_000010.10:g.(?_88676881)_(88679236_?)del
NC_000010.10:g.(?_88676881)_(88683476_?)del
NC_000010.10:g.(?_88678919)_(88679236_?)del
NC_000010.10:g.(?_88683123)_(88683476_?)del
NC_000010.11:g.(?_86755016)_(86923719_?)del
NC_000010.11:g.(?_86875868)_(86876095_?)del
NC_000010.11:g.(?_86876009)_(86923729_?)del
NC_000010.11:g.(?_86912230)_(86917336_?)del
NM_001406583.1(BMPR1A):c.676-6del rs1064796072
NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter) rs1554891075
NM_004329.3(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.3(BMPR1A):c.1019del (p.Cys340fs)
NM_004329.3(BMPR1A):c.1022del (p.Gly341fs) rs2133591810
NM_004329.3(BMPR1A):c.1029C>A (p.Cys343Ter)
NM_004329.3(BMPR1A):c.1029_1032delinsGT (p.Cys343fs)
NM_004329.3(BMPR1A):c.1041del (p.Glu348fs)
NM_004329.3(BMPR1A):c.1057C>T (p.Gln353Ter) rs2133592454
NM_004329.3(BMPR1A):c.1061del (p.Gly354fs) rs1554891089
NM_004329.3(BMPR1A):c.1064del (p.Lys355fs) rs2133592586
NM_004329.3(BMPR1A):c.1100del (p.Asn367fs) rs1843627734
NM_004329.3(BMPR1A):c.1101_1102dup (p.Ile368fs) rs2133593245
NM_004329.3(BMPR1A):c.1119dup (p.Gly374fs) rs2133593569
NM_004329.3(BMPR1A):c.111delinsCCATGGCACTGGGAT (p.Asp38fs)
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
NM_004329.3(BMPR1A):c.1127G>A (p.Cys376Tyr) rs199476088
NM_004329.3(BMPR1A):c.1127dup (p.Cys376fs)
NM_004329.3(BMPR1A):c.1131_1153dup (p.Val385fs) rs1843628465
NM_004329.3(BMPR1A):c.1131del (p.Cys376_Cys377insTer)
NM_004329.3(BMPR1A):c.1132_1133insCCTGGAG (p.Ile378fs)
NM_004329.3(BMPR1A):c.1151dup (p.Val385fs) rs2133594187
NM_004329.3(BMPR1A):c.1152del (p.Val385fs) rs1843628914
NM_004329.3(BMPR1A):c.1167-2A>G rs1843664505
NM_004329.3(BMPR1A):c.1171dup (p.Thr391fs)
NM_004329.3(BMPR1A):c.1193dup (p.Leu398fs) rs2133606135
NM_004329.3(BMPR1A):c.1208del (p.Gly403fs)
NM_004329.3(BMPR1A):c.121C>T (p.Gln41Ter)
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.3(BMPR1A):c.1230del (p.Glu411fs)
NM_004329.3(BMPR1A):c.1254del (p.Asn418fs)
NM_004329.3(BMPR1A):c.1255A>T (p.Lys419Ter) rs2133607319
NM_004329.3(BMPR1A):c.1265dup (p.Gln423fs)
NM_004329.3(BMPR1A):c.1267del (p.Gln423fs) rs1589292655
NM_004329.3(BMPR1A):c.1275C>A (p.Tyr425Ter)
NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs) rs2133395056
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
NM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter) rs1564725052
NM_004329.3(BMPR1A):c.1322dup (p.Arg442fs)
NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs) rs1564714804
NM_004329.3(BMPR1A):c.1354G>T (p.Glu452Ter)
NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter) rs1554891570
NM_004329.3(BMPR1A):c.1372dup (p.Tyr458fs) rs2133620284
NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter) rs1564725603
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)
NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter) rs1564714809
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1461G>A (p.Trp487Ter) rs2133622305
NM_004329.3(BMPR1A):c.1473+2T>C rs1843697382
NM_004329.3(BMPR1A):c.1474-1G>C rs2133623802
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.156_165del (p.Glu53fs) rs2133395477
NM_004329.3(BMPR1A):c.158dup (p.Asp54fs)
NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter) rs1392086533
NM_004329.3(BMPR1A):c.15C>G (p.Tyr5Ter)
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.176dup (p.Leu59fs)
NM_004329.3(BMPR1A):c.181_182dup (p.Tyr62fs)
NM_004329.3(BMPR1A):c.184_187dup (p.Cys63fs) rs1589763427
NM_004329.3(BMPR1A):c.192_193del (p.Gly65fs)
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.3(BMPR1A):c.213_228del (p.Ala71_Ile72insTer) rs1064792985
NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter) rs786201501
NM_004329.3(BMPR1A):c.244del (p.Cys82fs) rs1589764273
NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) rs786204187
NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter) rs730881431
NM_004329.3(BMPR1A):c.262del (p.Glu88fs)
NM_004329.3(BMPR1A):c.275del (p.Gly92fs) rs1554888317
NM_004329.3(BMPR1A):c.294dup (p.Gly99fs)
NM_004329.3(BMPR1A):c.338del (p.Ser113fs)
NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)
NM_004329.3(BMPR1A):c.349dup (p.Gln117fs)
NM_004329.3(BMPR1A):c.357_360del (p.Arg120fs) rs2133453577
NM_004329.3(BMPR1A):c.360del (p.Thr121fs) rs1064794031
NM_004329.3(BMPR1A):c.364dup (p.Ile122fs)
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter) rs2133454296
NM_004329.3(BMPR1A):c.39del (p.Tyr14fs) rs1564710641
NM_004329.3(BMPR1A):c.3G>T (p.Met1Ile) rs869312758
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs) rs1554886815
NM_004329.3(BMPR1A):c.419del (p.Pro140fs) rs1554888986
NM_004329.3(BMPR1A):c.430+1G>A rs1843283551
NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs) rs1131691179
NM_004329.3(BMPR1A):c.441del (p.Phe147fs)
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.455del (p.Arg152fs) rs1843286694
NM_004329.3(BMPR1A):c.458G>A (p.Trp153Ter) rs1131691176
NM_004329.3(BMPR1A):c.483dup (p.Val162fs)
NM_004329.3(BMPR1A):c.485del (p.Val162fs)
NM_004329.3(BMPR1A):c.497del (p.Ala166fs) rs2133457292
NM_004329.3(BMPR1A):c.510del (p.Ser171fs)
NM_004329.3(BMPR1A):c.528C>A (p.Tyr176Ter)
NM_004329.3(BMPR1A):c.530+3A>G rs2133458164
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter) rs1131691185
NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter) rs1564721929
NM_004329.3(BMPR1A):c.567C>A (p.Tyr189Ter) rs1554890213
NM_004329.3(BMPR1A):c.578dup (p.Leu193fs) rs1554890219
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter) rs771910503
NM_004329.3(BMPR1A):c.587_612del (p.Asp196fs)
NM_004329.3(BMPR1A):c.634del (p.Gln212fs)
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter) rs1554886821
NM_004329.3(BMPR1A):c.650del (p.Gly217fs) rs1843504014
NM_004329.3(BMPR1A):c.67+1G>A
NM_004329.3(BMPR1A):c.671del (p.Leu224fs)
NM_004329.3(BMPR1A):c.674del (p.Leu225fs) rs1564722014
NM_004329.3(BMPR1A):c.674dup (p.Leu225fs)
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.715C>T (p.Gln239Ter) rs199476084
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs) rs1554890759
NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter) rs1131691182
NM_004329.3(BMPR1A):c.746G>A (p.Trp249Ter)
NM_004329.3(BMPR1A):c.767_777del (p.Glu256fs)
NM_004329.3(BMPR1A):c.771del (p.Val258fs) rs878854673
NM_004329.3(BMPR1A):c.772del (p.Val258fs)
NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) rs199476085
NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter) rs1589290773
NM_004329.3(BMPR1A):c.813del (p.Trp271fs) rs2133577022
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs) rs587781928
NM_004329.3(BMPR1A):c.829del (p.Ile277fs) rs2133577213
NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.842_843del (p.Val281fs)
NM_004329.3(BMPR1A):c.847dup (p.Met283fs) rs1564723486
NM_004329.3(BMPR1A):c.864dup (p.Leu289fs) rs1554890815
NM_004329.3(BMPR1A):c.889A>T (p.Lys297Ter)
NM_004329.3(BMPR1A):c.897_1029del (p.Gly300fs) rs1843621548
NM_004329.3(BMPR1A):c.905G>A (p.Trp302Ter) rs1589291548
NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter) rs1404557708
NM_004329.3(BMPR1A):c.917_920dup (p.Ile308fs) rs1554891032
NM_004329.3(BMPR1A):c.924del (p.Thr309fs) rs2133589910
NM_004329.3(BMPR1A):c.934del (p.His312fs) rs1060503408
NM_004329.3(BMPR1A):c.943G>T (p.Gly315Ter)
NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs) rs1060503409
NM_004329.3(BMPR1A):c.951_952dup (p.Tyr318fs)
NM_004329.3(BMPR1A):c.954dup (p.Asp319Ter) rs1843623596
NM_004329.3(BMPR1A):c.957dup (p.Phe320fs) rs1554891043
NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer) rs1554891044
NM_004329.3(BMPR1A):c.972dup (p.Thr325fs)
NM_004329.3(BMPR1A):c.97dup (p.Thr33fs) rs2133394533
NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs) rs1554891056

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.