ClinVar Miner

List of variants in gene SMAD4 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NM_005359.5(SMAD4):c.*4C>A rs1555687625
NM_005359.5(SMAD4):c.-3C>G rs886053892
NM_005359.5(SMAD4):c.1009G>C (p.Glu337Gln) rs1555686464
NM_005359.5(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927
NM_005359.5(SMAD4):c.104T>C (p.Phe35Ser) rs786202127
NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694
NM_005359.5(SMAD4):c.1139+2dupT rs1555686510
NM_005359.5(SMAD4):c.1139+3A>G rs786202607
NM_005359.5(SMAD4):c.1159G>A (p.Val387Met) rs1010877617
NM_005359.5(SMAD4):c.1200G>T (p.Arg400Ser) rs876658516
NM_005359.5(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.5(SMAD4):c.1219G>C (p.Val407Leu) rs147621330
NM_005359.5(SMAD4):c.1259G>A (p.Arg420His) rs1064793725
NM_005359.5(SMAD4):c.1283A>C (p.Lys428Thr) rs1555686620
NM_005359.5(SMAD4):c.1310T>G (p.Val437Gly) rs786203940
NM_005359.5(SMAD4):c.1393G>A (p.Val465Met) rs786201798
NM_005359.5(SMAD4):c.1403A>G (p.Asn468Ser) rs569981255
NM_005359.5(SMAD4):c.1405A>G (p.Ile469Val) rs876658851
NM_005359.5(SMAD4):c.1447+4dupA rs1555687399
NM_005359.5(SMAD4):c.1448-5G>C rs587781640
NM_005359.5(SMAD4):c.1487G>A (p.Arg496His) rs876660045
NM_005359.5(SMAD4):c.1501C>A (p.Leu501Ile) rs1555687568
NM_005359.5(SMAD4):c.1532C>T (p.Pro511Leu) rs773367516
NM_005359.5(SMAD4):c.1547A>G (p.Gln516Arg) rs786202496
NM_005359.5(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.5(SMAD4):c.1561A>C (p.Thr521Pro) rs786203930
NM_005359.5(SMAD4):c.1562C>T (p.Thr521Ile) rs876659840
NM_005359.5(SMAD4):c.1571_1574delGGATins19 (p.?)
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.1642C>G (p.Pro548Ala) rs876658866
NM_005359.5(SMAD4):c.16A>G (p.Ile6Val) rs1376500870
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.20C>T (p.Thr7Met) rs372316981
NM_005359.5(SMAD4):c.23A>G (p.Asn8Ser) rs876658568
NM_005359.5(SMAD4):c.250-3T>C rs1555685140
NM_005359.5(SMAD4):c.250-5T>C rs1232598459
NM_005359.5(SMAD4):c.289C>T (p.Arg97Cys) rs1555685158
NM_005359.5(SMAD4):c.319A>G (p.Asn107Asp) rs1555685162
NM_005359.5(SMAD4):c.320A>G (p.Asn107Ser) rs1555685163
NM_005359.5(SMAD4):c.344G>A (p.Cys115Tyr) rs876659844
NM_005359.5(SMAD4):c.380G>A (p.Cys127Tyr) rs1555685182
NM_005359.5(SMAD4):c.38A>G (p.Asn13Ser) rs281875323
NM_005359.5(SMAD4):c.424+5G>A rs200772603
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.484T>C (p.Tyr162His) rs786203155
NM_005359.5(SMAD4):c.491A>G (p.His164Arg) rs876660058
NM_005359.5(SMAD4):c.4G>A (p.Asp2Asn) rs1555684979
NM_005359.5(SMAD4):c.503G>A (p.Gly168Glu) rs1555685631
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.547C>G (p.Gln183Glu) rs1555685645
NM_005359.5(SMAD4):c.554C>T (p.Pro185Leu) rs770798845
NM_005359.5(SMAD4):c.556C>G (p.Pro186Ala) rs1555685648
NM_005359.5(SMAD4):c.565C>G (p.Arg189Gly) rs140743238
NM_005359.5(SMAD4):c.566G>T (p.Arg189Leu) rs759288477
NM_005359.5(SMAD4):c.575C>T (p.Thr192Ile) rs587780792
NM_005359.5(SMAD4):c.584A>G (p.Tyr195Cys) rs1555685656
NM_005359.5(SMAD4):c.599T>C (p.Leu200Pro) rs786203737
NM_005359.5(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.5(SMAD4):c.62A>G (p.His21Arg) rs1280706054
NM_005359.5(SMAD4):c.632C>G (p.Thr211Ser) rs1555685671
NM_005359.5(SMAD4):c.638A>G (p.Asn213Ser) rs757977781
NM_005359.5(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005359.5(SMAD4):c.650T>G (p.Ile217Ser) rs1555685674
NM_005359.5(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.5(SMAD4):c.667+3G>A rs757971589
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.697C>A (p.His233Asn) rs552880257
NM_005359.5(SMAD4):c.706G>A (p.Gly236Arg) rs876658788
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.746_747delAGinsCC (p.Gln249Pro) rs587782209
NM_005359.5(SMAD4):c.763G>T (p.Gly255Cys) rs1555685930
NM_005359.5(SMAD4):c.776C>T (p.Thr259Ile) rs786202113
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.917A>G (p.Asn306Ser) rs730881953
NM_005359.5(SMAD4):c.930C>G (p.Phe310Leu) rs876658257
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.956-4A>G rs1295343500

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