ClinVar Miner

List of variants in gene SMAD4 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP
NC_000018.10:g.(?_51030213)_(51030623_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)dup
NC_000018.9:g.(?_48556583)_(48603156_?)dup
NC_000018.9:g.(?_48556583)_(48604847_?)dup
NC_000018.9:g.(?_48603008)_(48611412_?)dup
NM_005359.5(SMAD4):c.1616_1631del16insCA (p.Val539Alafs) rs1568211617
NM_005359.6(SMAD4):c.-9C>G rs864622289
NM_005359.6(SMAD4):c.1002G>T (p.Gln334His) rs773598775
NM_005359.6(SMAD4):c.1006G>C (p.Gly336Arg) rs878854763
NM_005359.6(SMAD4):c.1007G>A (p.Gly336Glu) rs1060500732
NM_005359.6(SMAD4):c.1018A>G (p.Lys340Glu) rs1599195392
NM_005359.6(SMAD4):c.1037C>G (p.Pro346Arg)
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) rs747360831
NM_005359.6(SMAD4):c.1041T>G (p.Ile347Met)
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1060G>A (p.Val354Met)
NM_005359.6(SMAD4):c.1063_1064insGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTATTGATTG (p.Asp355delinsGlyProPheTrpArgArgSerLeuLeuPheGlySerThrLeuGlnCysProGlnAspArgSerHisTer) rs1599195477
NM_005359.6(SMAD4):c.1072G>A (p.Gly358Arg)
NM_005359.6(SMAD4):c.1075G>C (p.Gly359Arg) rs1555686486
NM_005359.6(SMAD4):c.1078G>C (p.Asp360His)
NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.6(SMAD4):c.1098A>G (p.Gln366=) rs990054989
NM_005359.6(SMAD4):c.1103C>T (p.Ser368Phe)
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499
NM_005359.6(SMAD4):c.1126A>G (p.Ile376Val) rs1555686501
NM_005359.6(SMAD4):c.1138A>T (p.Arg380Trp) rs1568208291
NM_005359.6(SMAD4):c.1139+3A>G rs786202607
NM_005359.6(SMAD4):c.1140-10T>A rs186332162
NM_005359.6(SMAD4):c.1140-3A>C rs956212866
NM_005359.6(SMAD4):c.1140-5C>G rs1599196891
NM_005359.6(SMAD4):c.1159G>A (p.Val387Met) rs1010877617
NM_005359.6(SMAD4):c.1160T>G (p.Val387Gly)
NM_005359.6(SMAD4):c.118A>G (p.Ile40Val) rs878854764
NM_005359.6(SMAD4):c.1196T>A (p.Val399Asp)
NM_005359.6(SMAD4):c.119T>C (p.Ile40Thr) rs939612648
NM_005359.6(SMAD4):c.1200G>T (p.Arg400Ser) rs876658516
NM_005359.6(SMAD4):c.1201T>C (p.Cys401Arg)
NM_005359.6(SMAD4):c.1213C>T (p.His405Tyr) rs1179609154
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330
NM_005359.6(SMAD4):c.1226T>C (p.Val409Ala) rs1555686607
NM_005359.6(SMAD4):c.1258C>T (p.Arg420Cys) rs1367209662
NM_005359.6(SMAD4):c.1259G>A (p.Arg420His) rs1064793725
NM_005359.6(SMAD4):c.125G>A (p.Ser42Asn)
NM_005359.6(SMAD4):c.1276G>A (p.Val426Ile) rs1555686617
NM_005359.6(SMAD4):c.127T>G (p.Leu43Val) rs863224731
NM_005359.6(SMAD4):c.1283A>G (p.Lys428Arg)
NM_005359.6(SMAD4):c.1287C>G (p.Ile429Met) rs1555686621
NM_005359.6(SMAD4):c.1295G>A (p.Ser432Asn) rs770301659
NM_005359.6(SMAD4):c.1301A>G (p.Tyr434Cys)
NM_005359.6(SMAD4):c.1321C>T (p.Arg441Cys) rs1599204052
NM_005359.6(SMAD4):c.1322G>A (p.Arg441His) rs1599204057
NM_005359.6(SMAD4):c.1342C>G (p.Gln448Glu) rs377767361
NM_005359.6(SMAD4):c.1352C>A (p.Ala451Glu) rs1275841831
NM_005359.6(SMAD4):c.1352C>T (p.Ala451Val) rs1275841831
NM_005359.6(SMAD4):c.1393G>A (p.Val465Met) rs786201798
NM_005359.6(SMAD4):c.1393G>T (p.Val465Leu) rs786201798
NM_005359.6(SMAD4):c.1403A>G (p.Asn468Ser) rs569981255
NM_005359.6(SMAD4):c.1405A>G (p.Ile469Val) rs876658851
NM_005359.6(SMAD4):c.1423G>C (p.Val475Leu) rs864622428
NM_005359.6(SMAD4):c.1444A>G (p.Ile482Val) rs864622736
NM_005359.6(SMAD4):c.1447+3A>T rs754526507
NM_005359.6(SMAD4):c.1447+4A>G rs778631062
NM_005359.6(SMAD4):c.1448-1G>A
NM_005359.6(SMAD4):c.1448-6T>C rs1085307437
NM_005359.6(SMAD4):c.1448G>A (p.Ser483Asn) rs786204060
NM_005359.6(SMAD4):c.1449T>G (p.Ser483Arg) rs745598003
NM_005359.6(SMAD4):c.1476TGA[1] (p.Asp494del)
NM_005359.6(SMAD4):c.147G>C (p.Glu49Asp)
NM_005359.6(SMAD4):c.1489C>T (p.Arg497Cys) rs762118751
NM_005359.6(SMAD4):c.1490G>A (p.Arg497His)
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.6(SMAD4):c.1516G>A (p.Val506Met) rs1060500746
NM_005359.6(SMAD4):c.1534G>A (p.Asp512Asn) rs1555687578
NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu)
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1562C>T (p.Thr521Ile) rs876659840
NM_005359.6(SMAD4):c.1565C>T (p.Pro522Leu)
NM_005359.6(SMAD4):c.1574T>C (p.Ile525Thr)
NM_005359.6(SMAD4):c.1588C>A (p.His530Asn) rs754393017
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp) rs766833269
NM_005359.6(SMAD4):c.1597C>T (p.Leu533Phe) rs377767381
NM_005359.6(SMAD4):c.1599_1607del (p.Gln534_Leu536del)
NM_005359.6(SMAD4):c.1604_1605delinsAA (p.Leu535Gln) rs1599205540
NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly) rs1555687605
NM_005359.6(SMAD4):c.1610A>T (p.Asp537Val)
NM_005359.6(SMAD4):c.1612G>T (p.Glu538Ter) rs1568211615
NM_005359.6(SMAD4):c.1627A>G (p.Met543Val)
NM_005359.6(SMAD4):c.1634T>A (p.Ile545Asn) rs730881955
NM_005359.6(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.6(SMAD4):c.1645C>T (p.Gln549Ter) rs1555687613
NM_005359.6(SMAD4):c.1648C>T (p.Pro550Ser)
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.6(SMAD4):c.16A>G (p.Ile6Val) rs1376500870
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.6(SMAD4):c.181A>C (p.Ile61Leu) rs1064794204
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204
NM_005359.6(SMAD4):c.191A>G (p.Asn64Ser)
NM_005359.6(SMAD4):c.196G>A (p.Ala66Thr) rs1599181207
NM_005359.6(SMAD4):c.203C>T (p.Pro68Leu) rs1599181216
NM_005359.6(SMAD4):c.209A>C (p.Lys70Thr) rs1555685038
NM_005359.6(SMAD4):c.20C>G (p.Thr7Arg)
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981
NM_005359.6(SMAD4):c.23A>G (p.Asn8Ser) rs876658568
NM_005359.6(SMAD4):c.249+10A>G
NM_005359.6(SMAD4):c.249+6T>A rs1599181264
NM_005359.6(SMAD4):c.249_249+6dup rs1555685040
NM_005359.6(SMAD4):c.250-3T>C rs1555685140
NM_005359.6(SMAD4):c.260G>C (p.Arg87Pro) rs1060500735
NM_005359.6(SMAD4):c.267A>T (p.Gly89=) rs1599182401
NM_005359.6(SMAD4):c.26C>T (p.Thr9Ile) rs1555684986
NM_005359.6(SMAD4):c.290G>A (p.Arg97His) rs1555685159
NM_005359.6(SMAD4):c.29C>T (p.Pro10Leu)
NM_005359.6(SMAD4):c.31A>G (p.Thr11Ala) rs587780791
NM_005359.6(SMAD4):c.332A>C (p.His111Pro) rs1064794363
NM_005359.6(SMAD4):c.340T>A (p.Tyr114Asn) rs1555685170
NM_005359.6(SMAD4):c.358G>C (p.Asp120His)
NM_005359.6(SMAD4):c.366A>G (p.Lys122=) rs1057524633
NM_005359.6(SMAD4):c.367T>C (p.Cys123Arg) rs1568203472
NM_005359.6(SMAD4):c.372T>C (p.Asp124=) rs1555685178
NM_005359.6(SMAD4):c.37A>G (p.Asn13Asp)
NM_005359.6(SMAD4):c.380G>A (p.Cys127Tyr) rs1555685182
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323
NM_005359.6(SMAD4):c.394C>T (p.His132Tyr) rs1060500743
NM_005359.6(SMAD4):c.3G>A (p.Met1Ile)
NM_005359.6(SMAD4):c.3G>C (p.Met1Ile) rs973470216
NM_005359.6(SMAD4):c.422T>C (p.Ile141Thr) rs1599182596
NM_005359.6(SMAD4):c.424+3A>G
NM_005359.6(SMAD4):c.424+5G>A rs200772603
NM_005359.6(SMAD4):c.424+6T>C rs771456293
NM_005359.6(SMAD4):c.425-5T>G
NM_005359.6(SMAD4):c.427C>T (p.Leu143Phe) rs1568203595
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn) rs750355699
NM_005359.6(SMAD4):c.451A>G (p.Asn151Asp) rs1599182920
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser) rs751763157
NM_005359.6(SMAD4):c.460T>G (p.Ser154Ala) rs864622209
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005359.6(SMAD4):c.464G>A (p.Ser155Asn) rs199790852
NM_005359.6(SMAD4):c.464G>C (p.Ser155Thr)
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu) rs534355764
NM_005359.6(SMAD4):c.466_468ATG[1] (p.Met157del) rs786201939
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr) rs756675590
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) rs780716382
NM_005359.6(SMAD4):c.472G>T (p.Val158Leu) rs1555685628
NM_005359.6(SMAD4):c.476A>G (p.Lys159Arg)
NM_005359.6(SMAD4):c.477G>C (p.Lys159Asn)
NM_005359.6(SMAD4):c.478G>A (p.Asp160Asn) rs1599186807
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005359.6(SMAD4):c.47G>A (p.Cys16Tyr)
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser) rs1555684993
NM_005359.6(SMAD4):c.483A>G (p.Glu161=) rs786201120
NM_005359.6(SMAD4):c.491A>G (p.His164Arg) rs876660058
NM_005359.6(SMAD4):c.512C>T (p.Ser171Leu) rs1568205010
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446
NM_005359.6(SMAD4):c.529C>T (p.His177Tyr)
NM_005359.6(SMAD4):c.530A>C (p.His177Pro) rs1568205026
NM_005359.6(SMAD4):c.530A>T (p.His177Leu)
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980
NM_005359.6(SMAD4):c.535A>T (p.Ile179Phe) rs542392980
NM_005359.6(SMAD4):c.538C>G (p.Gln180Glu)
NM_005359.6(SMAD4):c.541A>G (p.Thr181Ala)
NM_005359.6(SMAD4):c.544A>G (p.Ile182Val)
NM_005359.6(SMAD4):c.546C>G (p.Ile182Met) rs1599186890
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu) rs770798845
NM_005359.6(SMAD4):c.556C>G (p.Pro186Ala) rs1555685648
NM_005359.6(SMAD4):c.557C>T (p.Pro186Leu)
NM_005359.6(SMAD4):c.560G>A (p.Ser187Asn) rs927620013
NM_005359.6(SMAD4):c.560G>C (p.Ser187Thr)
NM_005359.6(SMAD4):c.565C>A (p.Arg189Ser) rs140743238
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477
NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu) rs752575871
NM_005359.6(SMAD4):c.574A>G (p.Thr192Ala) rs1599186944
NM_005359.6(SMAD4):c.574A>T (p.Thr192Ser)
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792
NM_005359.6(SMAD4):c.580A>G (p.Thr194Ala) rs1432058632
NM_005359.6(SMAD4):c.586A>G (p.Ser196Gly) rs946539148
NM_005359.6(SMAD4):c.593C>G (p.Pro198Arg) rs1189715258
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.6(SMAD4):c.614A>C (p.Glu205Ala) rs748615724
NM_005359.6(SMAD4):c.615G>T (p.Glu205Asp) rs1555685667
NM_005359.6(SMAD4):c.625A>G (p.Thr209Ala) rs1555685670
NM_005359.6(SMAD4):c.626C>T (p.Thr209Ile)
NM_005359.6(SMAD4):c.628A>G (p.Ser210Gly) rs1568205087
NM_005359.6(SMAD4):c.629G>A (p.Ser210Asn) rs1599187043
NM_005359.6(SMAD4):c.631A>G (p.Thr211Ala)
NM_005359.6(SMAD4):c.634G>A (p.Ala212Thr) rs863224732
NM_005359.6(SMAD4):c.635C>T (p.Ala212Val)
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser) rs757977781
NM_005359.6(SMAD4):c.641T>A (p.Phe214Tyr) rs1060500736
NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser) rs1064793270
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005359.6(SMAD4):c.651T>G (p.Ile217Met) rs997151197
NM_005359.6(SMAD4):c.652C>A (p.Pro218Thr) rs1345146274
NM_005359.6(SMAD4):c.653C>T (p.Pro218Leu)
NM_005359.6(SMAD4):c.659C>T (p.Ala220Val)
NM_005359.6(SMAD4):c.661T>A (p.Ser221Thr) rs1568205115
NM_005359.6(SMAD4):c.667+3G>A rs757971589
NM_005359.6(SMAD4):c.667+6T>C rs1060500745
NM_005359.6(SMAD4):c.667A>G (p.Ser223Gly) rs1568205121
NM_005359.6(SMAD4):c.668-3T>C rs1568206021
NM_005359.6(SMAD4):c.668-6C>G rs748992694
NM_005359.6(SMAD4):c.668G>T (p.Ser223Ile) rs774334251
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793
NM_005359.6(SMAD4):c.679A>G (p.Ser227Gly) rs1443767329
NM_005359.6(SMAD4):c.680G>T (p.Ser227Ile)
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) rs1280682459
NM_005359.6(SMAD4):c.686T>G (p.Leu229Arg) rs75667697
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg) rs1568206043
NM_005359.6(SMAD4):c.691G>C (p.Gly231Arg) rs1599189469
NM_005359.6(SMAD4):c.692G>C (p.Gly231Ala) rs759679579
NM_005359.6(SMAD4):c.698A>G (p.His233Arg) rs1555685910
NM_005359.6(SMAD4):c.700A>C (p.Ser234Arg) rs758642067
NM_005359.6(SMAD4):c.707G>A (p.Gly236Glu) rs1568206062
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391
NM_005359.6(SMAD4):c.715C>G (p.Gln239Glu) rs1163381283
NM_005359.6(SMAD4):c.717G>C (p.Gln239His) rs1599189519
NM_005359.6(SMAD4):c.722C>T (p.Ala241Val)
NM_005359.6(SMAD4):c.731C>T (p.Pro244Leu) rs764421512
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) rs751985298
NM_005359.6(SMAD4):c.745C>G (p.Gln249Glu) rs1370953444
NM_005359.6(SMAD4):c.745_746delinsAG (p.Gln249Arg) rs1599189560
NM_005359.6(SMAD4):c.755G>T (p.Gly252Val) rs878854768
NM_005359.6(SMAD4):c.760A>G (p.Thr254Ala) rs1284924848
NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.6(SMAD4):c.775A>G (p.Thr259Ala) rs1599189628
NM_005359.6(SMAD4):c.787A>G (p.Asn263Asp) rs1568206105
NM_005359.6(SMAD4):c.788-3T>C rs1555685949
NM_005359.6(SMAD4):c.793A>G (p.Thr265Ala)
NM_005359.6(SMAD4):c.796A>G (p.Thr266Ala)
NM_005359.6(SMAD4):c.802T>C (p.Trp268Arg)
NM_005359.6(SMAD4):c.805A>C (p.Thr269Pro)
NM_005359.6(SMAD4):c.806C>G (p.Thr269Ser)
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn) rs1343555503
NM_005359.6(SMAD4):c.817A>G (p.Thr273Ala)
NM_005359.6(SMAD4):c.842C>T (p.Pro281Leu) rs1568206174
NM_005359.6(SMAD4):c.844C>T (p.His282Tyr)
NM_005359.6(SMAD4):c.845A>C (p.His282Pro) rs1555685962
NM_005359.6(SMAD4):c.856G>A (p.Gly286Ser) rs750111831
NM_005359.6(SMAD4):c.860A>G (p.His287Arg) rs1568206180
NM_005359.6(SMAD4):c.871C>T (p.His291Tyr) rs863224733
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu) rs370176106
NM_005359.6(SMAD4):c.887C>T (p.Pro296Leu)
NM_005359.6(SMAD4):c.890A>G (p.His297Arg) rs1060500737
NM_005359.6(SMAD4):c.899A>G (p.His300Arg) rs1060500731
NM_005359.6(SMAD4):c.8A>G (p.Asn3Ser) rs757702252
NM_005359.6(SMAD4):c.903C>T (p.Tyr301=)
NM_005359.6(SMAD4):c.904+6C>G
NM_005359.6(SMAD4):c.905-3T>C rs746836038
NM_005359.6(SMAD4):c.907C>G (p.Pro303Ala) rs1568206575
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.6(SMAD4):c.915C>A (p.His305Gln)
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953
NM_005359.6(SMAD4):c.918T>G (p.Asn306Lys) rs1555686075
NM_005359.6(SMAD4):c.922C>G (p.Leu308Val) rs1383128743
NM_005359.6(SMAD4):c.923T>C (p.Leu308Pro) rs1599191222
NM_005359.6(SMAD4):c.925G>A (p.Ala309Thr)
NM_005359.6(SMAD4):c.935C>G (p.Pro312Arg) rs1555686082
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val) rs748622028
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.6(SMAD4):c.952C>G (p.Pro318Ala)
NM_005359.6(SMAD4):c.955+4A>G
NM_005359.6(SMAD4):c.956-3T>C rs748283001
NM_005359.6(SMAD4):c.969G>T (p.Trp323Cys) rs772575670
NM_005359.6(SMAD4):c.976A>G (p.Ile326Val)
NM_005359.6(SMAD4):c.997G>A (p.Val333Ile) rs1274926456

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