ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NC_000018.10:g.(?_51076638)_(51085042_?)dup
NM_005359.5(SMAD4):c.-9C>G rs864622289
NM_005359.5(SMAD4):c.1002G>T (p.Gln334His) rs773598775
NM_005359.5(SMAD4):c.1006G>C (p.Gly336Arg) rs878854763
NM_005359.5(SMAD4):c.1007G>A (p.Gly336Glu) rs1060500732
NM_005359.5(SMAD4):c.1039A>G (p.Ile347Val) rs747360831
NM_005359.5(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927
NM_005359.5(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.5(SMAD4):c.1075G>C (p.Gly359Arg) rs1555686486
NM_005359.5(SMAD4):c.1098A>G (p.Gln366=) rs990054989
NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694
NM_005359.5(SMAD4):c.1126A>G (p.Ile376Val) rs1555686501
NM_005359.5(SMAD4):c.1138A>T (p.Arg380Trp)
NM_005359.5(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.5(SMAD4):c.1140-10T>A rs186332162
NM_005359.5(SMAD4):c.1140-3A>C rs956212866
NM_005359.5(SMAD4):c.118A>G (p.Ile40Val) rs878854764
NM_005359.5(SMAD4):c.1219G>C (p.Val407Leu) rs147621330
NM_005359.5(SMAD4):c.1226T>C (p.Val409Ala) rs1555686607
NM_005359.5(SMAD4):c.1259G>A (p.Arg420His) rs1064793725
NM_005359.5(SMAD4):c.1276G>A (p.Val426Ile) rs1555686617
NM_005359.5(SMAD4):c.127T>G (p.Leu43Val) rs863224731
NM_005359.5(SMAD4):c.1287C>G (p.Ile429Met) rs1555686621
NM_005359.5(SMAD4):c.1295G>A (p.Ser432Asn) rs770301659
NM_005359.5(SMAD4):c.1393G>A (p.Val465Met) rs786201798
NM_005359.5(SMAD4):c.1393G>T (p.Val465Leu) rs786201798
NM_005359.5(SMAD4):c.1423G>C (p.Val475Leu) rs864622428
NM_005359.5(SMAD4):c.1444A>G (p.Ile482Val) rs864622736
NM_005359.5(SMAD4):c.1447+3A>T rs754526507
NM_005359.5(SMAD4):c.1447+4A>G
NM_005359.5(SMAD4):c.1448G>A (p.Ser483Asn) rs786204060
NM_005359.5(SMAD4):c.1449T>G (p.Ser483Arg) rs745598003
NM_005359.5(SMAD4):c.1489C>T (p.Arg497Cys) rs762118751
NM_005359.5(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.5(SMAD4):c.1516G>A (p.Val506Met) rs1060500746
NM_005359.5(SMAD4):c.1534G>A (p.Asp512Asn) rs1555687578
NM_005359.5(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.5(SMAD4):c.1562C>T (p.Thr521Ile) rs876659840
NM_005359.5(SMAD4):c.1591C>T (p.Arg531Trp)
NM_005359.5(SMAD4):c.1597C>T (p.Leu533Phe) rs377767381
NM_005359.5(SMAD4):c.1612G>T (p.Glu538Ter)
NM_005359.5(SMAD4):c.1616_1631del16insCA (p.Val539Alafs)
NM_005359.5(SMAD4):c.1634T>A (p.Ile545Asn) rs730881955
NM_005359.5(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.5(SMAD4):c.1645C>T (p.Gln549Ter) rs1555687613
NM_005359.5(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.5(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.5(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.5(SMAD4):c.181A>C (p.Ile61Leu) rs1064794204
NM_005359.5(SMAD4):c.181A>G (p.Ile61Val) rs1064794204
NM_005359.5(SMAD4):c.20C>T (p.Thr7Met) rs372316981
NM_005359.5(SMAD4):c.249_249+6dup rs1555685040
NM_005359.5(SMAD4):c.260G>C (p.Arg87Pro) rs1060500735
NM_005359.5(SMAD4):c.26C>T (p.Thr9Ile) rs1555684986
NM_005359.5(SMAD4):c.290G>A (p.Arg97His)
NM_005359.5(SMAD4):c.31A>G (p.Thr11Ala) rs587780791
NM_005359.5(SMAD4):c.332A>C (p.His111Pro) rs1064794363
NM_005359.5(SMAD4):c.340T>A (p.Tyr114Asn) rs1555685170
NM_005359.5(SMAD4):c.366A>G (p.Lys122=) rs1057524633
NM_005359.5(SMAD4):c.367T>C (p.Cys123Arg)
NM_005359.5(SMAD4):c.372T>C (p.Asp124=) rs1555685178
NM_005359.5(SMAD4):c.380G>A (p.Cys127Tyr) rs1555685182
NM_005359.5(SMAD4):c.394C>T (p.His132Tyr) rs1060500743
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005359.5(SMAD4):c.427C>T (p.Leu143Phe)
NM_005359.5(SMAD4):c.449G>A (p.Ser150Asn) rs750355699
NM_005359.5(SMAD4):c.460T>G (p.Ser154Ala) rs864622209
NM_005359.5(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005359.5(SMAD4):c.464G>A (p.Ser155Asn) rs199790852
NM_005359.5(SMAD4):c.466A>T (p.Met156Leu) rs534355764
NM_005359.5(SMAD4):c.469_471delATG (p.Met157del) rs786201939
NM_005359.5(SMAD4):c.471G>A (p.Met157Ile) rs780716382
NM_005359.5(SMAD4):c.472G>T (p.Val158Leu) rs1555685628
NM_005359.5(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005359.5(SMAD4):c.47G>C (p.Cys16Ser) rs1555684993
NM_005359.5(SMAD4):c.512C>T (p.Ser171Leu)
NM_005359.5(SMAD4):c.521C>A (p.Thr174Asn) rs138800446
NM_005359.5(SMAD4):c.535A>G (p.Ile179Val) rs542392980
NM_005359.5(SMAD4):c.535A>T (p.Ile179Phe) rs542392980
NM_005359.5(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.5(SMAD4):c.554C>T (p.Pro185Leu) rs770798845
NM_005359.5(SMAD4):c.560G>A (p.Ser187Asn) rs927620013
NM_005359.5(SMAD4):c.565C>A (p.Arg189Ser) rs140743238
NM_005359.5(SMAD4):c.566G>A (p.Arg189His) rs759288477
NM_005359.5(SMAD4):c.575C>T (p.Thr192Ile) rs587780792
NM_005359.5(SMAD4):c.580A>G (p.Thr194Ala)
NM_005359.5(SMAD4):c.586A>G (p.Ser196Gly) rs946539148
NM_005359.5(SMAD4):c.593C>G (p.Pro198Arg) rs1189715258
NM_005359.5(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.5(SMAD4):c.615G>T (p.Glu205Asp) rs1555685667
NM_005359.5(SMAD4):c.625A>G (p.Thr209Ala) rs1555685670
NM_005359.5(SMAD4):c.628A>G (p.Ser210Gly)
NM_005359.5(SMAD4):c.634G>A (p.Ala212Thr) rs863224732
NM_005359.5(SMAD4):c.638A>G (p.Asn213Ser) rs757977781
NM_005359.5(SMAD4):c.641T>A (p.Phe214Tyr) rs1060500736
NM_005359.5(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005359.5(SMAD4):c.661T>A (p.Ser221Thr)
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.667+6T>C rs1060500745
NM_005359.5(SMAD4):c.667A>G (p.Ser223Gly)
NM_005359.5(SMAD4):c.668-3T>C
NM_005359.5(SMAD4):c.668-6C>G rs748992694
NM_005359.5(SMAD4):c.668G>T (p.Ser223Ile) rs774334251
NM_005359.5(SMAD4):c.671A>T (p.Gln224Leu) rs587780793
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.5(SMAD4):c.688G>C (p.Gly230Arg)
NM_005359.5(SMAD4):c.692G>C (p.Gly231Ala) rs759679579
NM_005359.5(SMAD4):c.698A>G (p.His233Arg) rs1555685910
NM_005359.5(SMAD4):c.707G>A (p.Gly236Glu)
NM_005359.5(SMAD4):c.70A>G (p.Met24Val) rs876659391
NM_005359.5(SMAD4):c.736C>A (p.Pro246Thr) rs876659967
NM_005359.5(SMAD4):c.743A>T (p.Gln248Leu) rs751985298
NM_005359.5(SMAD4):c.745C>G (p.Gln249Glu) rs1370953444
NM_005359.5(SMAD4):c.755G>T (p.Gly252Val) rs878854768
NM_005359.5(SMAD4):c.760A>G (p.Thr254Ala)
NM_005359.5(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.5(SMAD4):c.787A>G (p.Asn263Asp)
NM_005359.5(SMAD4):c.788-3T>C rs1555685949
NM_005359.5(SMAD4):c.812G>A (p.Ser271Asn) rs1343555503
NM_005359.5(SMAD4):c.842C>T (p.Pro281Leu)
NM_005359.5(SMAD4):c.845A>C (p.His282Pro) rs1555685962
NM_005359.5(SMAD4):c.852A>G (p.Gln284=) rs144378484
NM_005359.5(SMAD4):c.856G>A (p.Gly286Ser) rs750111831
NM_005359.5(SMAD4):c.871C>T (p.His291Tyr) rs863224733
NM_005359.5(SMAD4):c.875C>T (p.Pro292Leu) rs786201404
NM_005359.5(SMAD4):c.884C>T (p.Pro295Leu) rs370176106
NM_005359.5(SMAD4):c.890A>G (p.His297Arg) rs1060500737
NM_005359.5(SMAD4):c.899A>G (p.His300Arg) rs1060500731
NM_005359.5(SMAD4):c.8A>G (p.Asn3Ser)
NM_005359.5(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.5(SMAD4):c.917A>G (p.Asn306Ser) rs730881953
NM_005359.5(SMAD4):c.918T>G (p.Asn306Lys) rs1555686075
NM_005359.5(SMAD4):c.935C>G (p.Pro312Arg) rs1555686082
NM_005359.5(SMAD4):c.940A>G (p.Ile314Val) rs748622028
NM_005359.5(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.5(SMAD4):c.956-3T>C rs748283001
NM_005359.5(SMAD4):c.969G>T (p.Trp323Cys)

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