ClinVar Miner

List of variants in gene EXT2 studied for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP
NC_000011.10:g.(?_44096233)_(44130158_?)del
NC_000011.10:g.(?_44096233)_(44244388_?)del
NC_000011.10:g.(?_44107663)_(44108268_?)del
NC_000011.10:g.(?_44107663)_(44109303_?)del
NC_000011.10:g.(?_44107663)_(44130158_?)del
NC_000011.10:g.(?_44124769)_(44126975_?)del
NC_000011.10:g.(?_44144227)_(44198038_?)del
NC_000011.10:g.(?_44171591)_(44171762_?)del
NC_000011.10:g.(?_44171591)_(44206979_?)del
NC_000011.10:g.(?_44206773)_(44206979_?)del
NC_000011.10:g.(?_44206793)_(44206959_?)del
NC_000011.10:g.44095641G>T
NC_000011.9:g.(?_44146456_44156975del
NM_000401.3(EXT2):c.*101G>C rs117755165
NM_000401.3(EXT2):c.*129C>G rs141864253
NM_000401.3(EXT2):c.*139C>G rs191451519
NM_000401.3(EXT2):c.*368C>T rs886048279
NM_000401.3(EXT2):c.*381T>C rs886048280
NM_000401.3(EXT2):c.*3C>T rs542907948
NM_000401.3(EXT2):c.*472C>T rs74424177
NM_000401.3(EXT2):c.*56G>A rs77554103
NM_000401.3(EXT2):c.*646C>T rs189528648
NM_000401.3(EXT2):c.*731A>G rs886048281
NM_000401.3(EXT2):c.*795C>A rs76505631
NM_000401.3(EXT2):c.*802A>G rs531942530
NM_000401.3(EXT2):c.*93G>A rs886048278
NM_000401.3(EXT2):c.*945G>A rs886048282
NM_000401.3(EXT2):c.1005_1006dup (p.His336fs) rs886041199
NM_000401.3(EXT2):c.1017C>T (p.Phe339=) rs35436405
NM_000401.3(EXT2):c.1027C>T (p.Gln343Ter) rs1555005398
NM_000401.3(EXT2):c.1036C>T (p.Gln346Ter) rs763718818
NM_000401.3(EXT2):c.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.107C>T (p.Ala36Val) rs201185639
NM_000401.3(EXT2):c.1098T>C (p.Asp366=) rs61733300
NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) rs527624522
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) rs371996957
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1122G>A (p.Pro374=) rs757323768
NM_000401.3(EXT2):c.1173G>A (p.Trp391Ter) rs1450980907
NM_000401.3(EXT2):c.1178+1G>A rs1369420640
NM_000401.3(EXT2):c.1179-18T>A rs11037882
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) rs138943091
NM_000401.3(EXT2):c.1208T>C (p.Met403Thr) rs199711832
NM_000401.3(EXT2):c.1209G>T (p.Met403Ile) rs34084767
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) rs369029338
NM_000401.3(EXT2):c.1231C>T (p.Gln411Ter) rs1555006433
NM_000401.3(EXT2):c.1272+2T>A rs1565205890
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.127C>A (p.Arg43=) rs4755228
NM_000401.3(EXT2):c.1286G>A (p.Trp429Ter) rs750542485
NM_000401.3(EXT2):c.1307T>C (p.Ile436Thr) rs530523884
NM_000401.3(EXT2):c.130G>A (p.Gly44Ser) rs886048274
NM_000401.3(EXT2):c.1390G>A (p.Asp464Asn) rs886048276
NM_000401.3(EXT2):c.1404+1G>A rs864309637
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) rs772690312
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1663C>T (p.Arg555Cys) rs145507609
NM_000401.3(EXT2):c.166C>T (p.Arg56Ter) rs754533434
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000401.3(EXT2):c.1740C>T (p.Asp580=) rs75987184
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) rs142565472
NM_000401.3(EXT2):c.1839G>A (p.Trp613Ter) rs1564986609
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.1905+11G>A rs372517964
NM_000401.3(EXT2):c.1905+9del rs372901342
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.2034+11C>G rs764143899
NM_000401.3(EXT2):c.2035-41T>C rs3740878
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.304G>A (p.Val102Ile) rs200809171
NM_000401.3(EXT2):c.343del (p.Asp115fs) rs1555002457
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) rs534539796
NM_000401.3(EXT2):c.344dup (p.Asp115fs) rs1555002460
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.363C>T (p.His121=) rs35455466
NM_000401.3(EXT2):c.382C>T (p.Arg128Cys) rs376292686
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
NM_000401.3(EXT2):c.497_500dup (p.Met168fs) rs886041272
NM_000401.3(EXT2):c.528C>A (p.Tyr176Ter) rs1555002543
NM_000401.3(EXT2):c.613C>T (p.Gln205Ter) rs121918279
NM_000401.3(EXT2):c.618G>C (p.Ala206=) rs148121594
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.643C>T (p.Arg215Ter) rs886039358
NM_000401.3(EXT2):c.652_657del (p.Asn218_His219del) rs761364688
NM_000401.3(EXT2):c.670A>G (p.Met224Val) rs1324170921
NM_000401.3(EXT2):c.725+1G>A rs1057521132
NM_000401.3(EXT2):c.726-2A>G rs1064793854
NM_000401.3(EXT2):c.74G>T (p.Cys25Phe) rs369437823
NM_000401.3(EXT2):c.755C>T (p.Thr252Met) rs202208526
NM_000401.3(EXT2):c.765C>G (p.Tyr255Ter) rs121918281
NM_000401.3(EXT2):c.767G>C (p.Arg256Pro) rs764379119
NM_000401.3(EXT2):c.769C>T (p.Gln257Ter) rs1565199251
NM_000401.3(EXT2):c.778G>A (p.Asp260Asn) rs121918280
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.842+1G>A rs886039567
NM_000401.3(EXT2):c.843-10T>G rs200943294
NM_000401.3(EXT2):c.843-2A>C rs864309638
NM_000401.3(EXT2):c.871C>T (p.Gln291Ter) rs267606786
NM_000401.3(EXT2):c.904C>T (p.Leu302=) rs773486418
NM_000401.3(EXT2):c.948C>T (p.Leu316=) rs749093709
NM_000401.3(EXT2):c.959C>A (p.Thr320Asn) rs886048275
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_207122.1(EXT2):c.-148G>A rs115238130
NM_207122.1(EXT2):c.-197C>G rs78395259
NM_207122.1(EXT2):c.-307G>T rs569630494
NM_207122.1(EXT2):c.-31+7G>T rs58861092
NM_207122.1(EXT2):c.-311G>A rs3923808
NM_207122.1(EXT2):c.-331T>C rs10458911
NM_207122.1(EXT2):c.-61C>G rs12800404
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.*1153A>T rs185285766
NM_207122.2(EXT2):c.*339C>T
NM_207122.2(EXT2):c.*440A>G
NM_207122.2(EXT2):c.*672G>C
NM_207122.2(EXT2):c.*838T>G
NM_207122.2(EXT2):c.*862T>G
NM_207122.2(EXT2):c.*882G>T
NM_207122.2(EXT2):c.-45G>T
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter)
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr)
NM_207122.2(EXT2):c.1024del (p.Val342fs)
NM_207122.2(EXT2):c.1032del (p.Ile344fs) rs1590570953
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)
NM_207122.2(EXT2):c.1079+1G>C
NM_207122.2(EXT2):c.1079+1G>T
NM_207122.2(EXT2):c.1117G>A (p.Val373Met)
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs)
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter)
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter)
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs)
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
NM_207122.2(EXT2):c.1179del (p.Trp394fs)
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr)
NM_207122.2(EXT2):c.1195del (p.Tyr399fs)
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu)
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter)
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys)
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter)
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys)
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer)
NM_207122.2(EXT2):c.1306-7C>G
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=)
NM_207122.2(EXT2):c.1495+7dup
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys)
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys)
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534
NM_207122.2(EXT2):c.1575T>A (p.Pro525=)
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter)
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp)
NM_207122.2(EXT2):c.1627dup (p.Met543fs) rs1590647371
NM_207122.2(EXT2):c.1681G>C (p.Asp561His)
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
NM_207122.2(EXT2):c.1704T>A (p.Gly568=)
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys)
NM_207122.2(EXT2):c.1743G>A (p.Lys581=)
NM_207122.2(EXT2):c.1764T>C (p.Asn588=)
NM_207122.2(EXT2):c.1806+10C>T
NM_207122.2(EXT2):c.1807-51T>C
NM_207122.2(EXT2):c.182G>A (p.Arg61His)
NM_207122.2(EXT2):c.1935G>A (p.Lys645=)
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
NM_207122.2(EXT2):c.198G>C (p.Val66=)
NM_207122.2(EXT2):c.2013G>A (p.Val671=) rs371019537
NM_207122.2(EXT2):c.2019-14T>C
NM_207122.2(EXT2):c.201G>A (p.Pro67=)
NM_207122.2(EXT2):c.203_258del (p.Val68fs)
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu)
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) rs746317053
NM_207122.2(EXT2):c.211del (p.Leu71fs)
NM_207122.2(EXT2):c.2136C>T (p.Phe712=)
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val)
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr)
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp)
NM_207122.2(EXT2):c.238del (p.Arg80fs) rs1565196333
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln)
NM_207122.2(EXT2):c.246T>C (p.Asp82=)
NM_207122.2(EXT2):c.257_263del (p.Arg86fs)
NM_207122.2(EXT2):c.261G>A (p.Met87Ile)
NM_207122.2(EXT2):c.267G>A (p.Thr89=)
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter)
NM_207122.2(EXT2):c.306C>T (p.Asn102=)
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr)
NM_207122.2(EXT2):c.314del (p.Lys105fs)
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter)
NM_207122.2(EXT2):c.343G>A (p.Val115Met)
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) rs1565196489
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter)
NM_207122.2(EXT2):c.423C>T (p.Asp141=) rs199916419
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter)
NM_207122.2(EXT2):c.444C>T (p.Asn148=)
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.459_462del (p.Val154fs)
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly)
NM_207122.2(EXT2):c.482del (p.Asn161fs)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile)
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)
NM_207122.2(EXT2):c.520A>T (p.Met174Leu)
NM_207122.2(EXT2):c.536+1G>C
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del)
NM_207122.2(EXT2):c.590del (p.Pro197fs) rs1565197245
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser)
NM_207122.2(EXT2):c.602_603del (p.Thr201fs)
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
NM_207122.2(EXT2):c.626+2T>G
NM_207122.2(EXT2):c.626+2_626+5del
NM_207122.2(EXT2):c.64_68del (p.His22fs)
NM_207122.2(EXT2):c.65A>G (p.His22Arg)
NM_207122.2(EXT2):c.687C>T (p.Ser229=)
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter)
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg)
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg)
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-1G>A
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp)
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter)
NM_207122.2(EXT2):c.782_783del (p.Leu261fs)
NM_207122.2(EXT2):c.783_784del (p.His262fs)
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter)
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys)
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
NM_207122.2(EXT2):c.886G>C (p.Val296Leu)
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
NM_207122.2(EXT2):c.890G>A (p.Arg297His)
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)
NM_207122.2(EXT2):c.913del (p.Val305fs)
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly)
NM_207122.2(EXT2):c.936A>G (p.Leu312=)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu)
NM_207122.2(EXT2):c.93C>T (p.Ser31=)
NM_207122.2(EXT2):c.940-2A>G
NM_207122.2(EXT2):c.952_964del (p.Cys318fs)
NM_207122.2(EXT2):c.956_957del (p.Val319fs) rs1590570665
NM_207122.2(EXT2):c.960del (p.Leu321fs)
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)

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