ClinVar Miner

List of variants in gene SMAD4 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NC_000018.10:g.(?_51029921)_(51078477_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)del
NC_000018.10:g.(?_51030213)_(51078477_?)del
NC_000018.10:g.(?_51065417)_(51067193_?)del
NC_000018.10:g.(?_51067019)_(51085042_?)del
NC_000018.10:g.(?_51076628)_(51078477_?)del
NC_000018.9:g.(?_48573411)_(48604843_?)del
NC_000018.9:g.(?_48591783)_(48591986_?)del
NC_000018.9:g.(?_48591783)_(48593567_?)del
NC_000018.9:g.(?_48593383)_(48604842_?)del
NC_000018.9:g.(?_48602988)_(48604837_?)del
NC_000018.9:g.(?_48602998)_(48604837_?)del
NC_000018.9:g.(?_48604616)_(48604837_?)del
NM_005359.5(SMAD4):c.(?_-1)_(*1_?)del
NM_005359.5(SMAD4):c.(?_-538)_1139+?del
NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG rs1064793271
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.6(SMAD4):c.1010del (p.Glu337fs)
NM_005359.6(SMAD4):c.1017dup (p.Lys340Ter) rs2144446798
NM_005359.6(SMAD4):c.1019dup (p.Val341fs)
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) rs1555686469
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter) rs1599195400
NM_005359.6(SMAD4):c.1037del (p.Pro346fs) rs377767343
NM_005359.6(SMAD4):c.1042_1043del (p.Val348fs) rs377767344
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs) rs1599195433
NM_005359.6(SMAD4):c.1051G>A (p.Asp351Asn) rs1057519739
NM_005359.6(SMAD4):c.1051G>C (p.Asp351His) rs1057519739
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1058_1061del (p.Tyr353fs)
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005359.6(SMAD4):c.1065C>A (p.Asp355Glu) rs1057519740
NM_005359.6(SMAD4):c.1067del (p.Pro356fs) rs1599195489
NM_005359.6(SMAD4):c.1067dup (p.Ser357fs) rs1599195489
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter) rs121912576
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) rs80338963
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.6(SMAD4):c.1125_1128dup (p.Glu377delinsHisTer) rs2144447925
NM_005359.6(SMAD4):c.112del (p.Arg38fs) rs2144400967
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) rs1555686503
NM_005359.6(SMAD4):c.1138del (p.Arg380fs) rs1555686506
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.6(SMAD4):c.1140-1G>A rs1555686594
NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter) rs863224507
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.6(SMAD4):c.1158_1159insTG (p.Val387fs)
NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer) rs1555686600
NM_005359.6(SMAD4):c.1176dup (p.Gly393fs) rs2144451929
NM_005359.6(SMAD4):c.1193G>A (p.Trp398Ter) rs377767357
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) rs1599196995
NM_005359.6(SMAD4):c.1198del (p.Arg400fs) rs1060500734
NM_005359.6(SMAD4):c.1201dup (p.Cys401fs) rs1555686604
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) rs878854765
NM_005359.6(SMAD4):c.121G>T (p.Glu41Ter)
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) rs1555686608
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs) rs730881952
NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs)
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter) rs121912577
NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1239C>G (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer) rs1555686610
NM_005359.6(SMAD4):c.1239_1242del (p.Tyr412_Tyr413insTer)
NM_005359.6(SMAD4):c.1241del (p.Tyr413_Leu414insTer) rs1910183166
NM_005359.6(SMAD4):c.1242del (p.Asp415fs) rs377767358
NM_005359.6(SMAD4):c.1242dup (p.Asp415fs) rs786201200
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1249_1250del (p.Glu417fs) rs1599197105
NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs) rs730881956
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) rs1555686616
NM_005359.6(SMAD4):c.1278del (p.His427fs)
NM_005359.6(SMAD4):c.1287del (p.Tyr430fs)
NM_005359.6(SMAD4):c.1289dup (p.Tyr430Ter)
NM_005359.6(SMAD4):c.1304_1305dup (p.Lys436Ter) rs1910186100
NM_005359.6(SMAD4):c.1308+1704_1565del
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1308+2T>C rs1555686624
NM_005359.6(SMAD4):c.1309-1G>A rs1555687377
NM_005359.6(SMAD4):c.1311del (p.Phe438fs) rs1599204042
NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter) rs1555687378
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs) rs730881957
NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs) rs1568211187
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter) rs587781359
NM_005359.6(SMAD4):c.1348C>T (p.Gln450Ter) rs1910478581
NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) rs876660720
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs) rs876660720
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs) rs786204125
NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs) rs377767363
NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter) rs1599204121
NM_005359.6(SMAD4):c.1373dup (p.Ala459fs) rs2144474088
NM_005359.6(SMAD4):c.137_155del (p.Lys46fs)
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter) rs1599204140
NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs) rs1555687386
NM_005359.6(SMAD4):c.1409del (p.Pro470fs) rs1555687387
NM_005359.6(SMAD4):c.1410_1413dup (p.Pro472fs)
NM_005359.6(SMAD4):c.1415dup (p.Gly473fs) rs2144474485
NM_005359.6(SMAD4):c.1418del (p.Gly473fs) rs1555687388
NM_005359.6(SMAD4):c.1447+2T>C rs1060500740
NM_005359.6(SMAD4):c.1470del (p.Ile490fs)
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His) rs121912578
NM_005359.6(SMAD4):c.1494dup (p.Cys499fs) rs2144478377
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.1507_1508insATCC (p.Met503fs)
NM_005359.6(SMAD4):c.1515del (p.Phe505fs) rs864622252
NM_005359.6(SMAD4):c.1523del (p.Gly508fs) rs2144478656
NM_005359.6(SMAD4):c.1529del (p.Gly510fs) rs1060500744
NM_005359.6(SMAD4):c.153del (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.153dup (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter) rs121912579
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) rs587783060
NM_005359.6(SMAD4):c.1548del (p.Ser517fs) rs2144478902
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.1552dup (p.Ile518fs)
NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter) rs1568211588
NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs) rs876660150
NM_005359.6(SMAD4):c.1586T>G (p.Leu529Ter)
NM_005359.6(SMAD4):c.1587dup (p.His530fs) rs377767376
NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs) rs377767379
NM_005359.6(SMAD4):c.1600C>T (p.Gln534Ter) rs377767383
NM_005359.6(SMAD4):c.1609G>T (p.Asp537Tyr) rs1057519741
NM_005359.6(SMAD4):c.1612_1625del (p.Glu538fs) rs377767385
NM_005359.6(SMAD4):c.170_173del (p.Ser56_Leu57insTer)
NM_005359.6(SMAD4):c.208_215del (p.Lys70fs)
NM_005359.6(SMAD4):c.217dup (p.Thr73fs) rs1909571836
NM_005359.6(SMAD4):c.223C>T (p.Gln75Ter)
NM_005359.6(SMAD4):c.223del (p.Gln75fs) rs2144401809
NM_005359.6(SMAD4):c.237_241dup (p.Arg81fs) rs2144401899
NM_005359.6(SMAD4):c.23del (p.Asn8fs) rs2144400284
NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter) rs1599181251
NM_005359.6(SMAD4):c.250-1G>A rs1555685149
NM_005359.6(SMAD4):c.263_267del (p.Lys88fs) rs1060500739
NM_005359.6(SMAD4):c.263_287dup (p.Leu98fs)
NM_005359.6(SMAD4):c.275_276del (p.His92fs) rs1555685156
NM_005359.6(SMAD4):c.282_283del (p.Tyr95fs)
NM_005359.6(SMAD4):c.296G>A (p.Trp99Ter) rs2144405369
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter) rs1909619442
NM_005359.6(SMAD4):c.320del (p.Asn107fs)
NM_005359.6(SMAD4):c.321_330dup (p.His111Ter) rs1909619692
NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer) rs727504151
NM_005359.6(SMAD4):c.332_333del (p.His111fs) rs2144405621
NM_005359.6(SMAD4):c.337_343del (p.Lys113fs)
NM_005359.6(SMAD4):c.348_349del (p.Tyr117fs) rs2144405750
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
NM_005359.6(SMAD4):c.383_384del (p.Val128fs)
NM_005359.6(SMAD4):c.391dup (p.Tyr131fs)
NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter) rs779069779
NM_005359.6(SMAD4):c.399C>G (p.Tyr133Ter) rs779069779
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.6(SMAD4):c.413C>G (p.Ser138Ter) rs1599182571
NM_005359.6(SMAD4):c.415_416del (p.Pro139fs) rs1599182586
NM_005359.6(SMAD4):c.424+1G>A rs377767386
NM_005359.6(SMAD4):c.425-9A>G
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) rs377767328
NM_005359.6(SMAD4):c.443del (p.Leu148fs) rs1599182906
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.6(SMAD4):c.472del (p.Met157_Val158insTer) rs2144417880
NM_005359.6(SMAD4):c.479dup (p.Asp160fs)
NM_005359.6(SMAD4):c.498del (p.Phe166fs) rs1909795937
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) rs1449334786
NM_005359.6(SMAD4):c.513_514del (p.Leu172fs)
NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter) rs377767332
NM_005359.6(SMAD4):c.547C>T (p.Gln183Ter) rs1555685645
NM_005359.6(SMAD4):c.563del (p.Asn188fs) rs2144418764
NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter)
NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) rs1316902116
NM_005359.6(SMAD4):c.620del (p.Asn207fs) rs2144419362
NM_005359.6(SMAD4):c.633dup (p.Ala212fs)
NM_005359.6(SMAD4):c.667+1G>C
NM_005359.6(SMAD4):c.692del (p.Gly231fs)
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.699dup (p.Ser234Ter)
NM_005359.6(SMAD4):c.69del (p.Met24fs) rs1599181081
NM_005359.6(SMAD4):c.700dup (p.Ser234fs)
NM_005359.6(SMAD4):c.713_719del (p.Leu237_Leu238insTer) rs2144427004
NM_005359.6(SMAD4):c.714dup (p.Gln239fs) rs2144427024
NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter)
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) rs1060500742
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter) rs2144427253
NM_005359.6(SMAD4):c.742C>T (p.Gln248Ter) rs2144427357
NM_005359.6(SMAD4):c.752del (p.Asn251fs) rs1555685925
NM_005359.6(SMAD4):c.766C>T (p.Gln256Ter)
NM_005359.6(SMAD4):c.778_779dup (p.His261fs)
NM_005359.6(SMAD4):c.779dup (p.Tyr260Ter) rs2144427739
NM_005359.6(SMAD4):c.794dup (p.Thr266fs)
NM_005359.6(SMAD4):c.803G>A (p.Trp268Ter)
NM_005359.6(SMAD4):c.819dup (p.Ala274fs)
NM_005359.6(SMAD4):c.828C>G (p.Tyr276Ter) rs1909901558
NM_005359.6(SMAD4):c.831_832del (p.Thr277_Pro278insTer) rs377767336
NM_005359.6(SMAD4):c.850C>T (p.Gln284Ter)
NM_005359.6(SMAD4):c.860_861insGATA (p.His287fs)
NM_005359.6(SMAD4):c.860dup (p.His287fs)
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs) rs869312781
NM_005359.6(SMAD4):c.894del (p.Gly299fs) rs2144429392
NM_005359.6(SMAD4):c.895_896del (p.Gly299fs)
NM_005359.6(SMAD4):c.898_904+1dup rs1555685974
NM_005359.6(SMAD4):c.902dup (p.Tyr301Ter) rs2144429483
NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter) rs746084369
NM_005359.6(SMAD4):c.903del (p.Trp302fs) rs1555685978
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA rs771084683
NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter) rs1555686071
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter) rs878854769
NM_005359.6(SMAD4):c.915del (p.His305fs)
NM_005359.6(SMAD4):c.917del (p.Asn306fs)
NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter) rs876658694
NM_005359.6(SMAD4):c.936_939del (p.Pro313fs)
NM_005359.6(SMAD4):c.939dup (p.Ile314fs) rs1568206602
NM_005359.6(SMAD4):c.968G>A (p.Trp323Ter) rs2144446385
NM_005359.6(SMAD4):c.969G>A (p.Trp323Ter)
NM_005359.6(SMAD4):c.989A>C (p.Glu330Ala) rs281875324
NM_005359.6:c.1309_1447del

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