ClinVar Miner

List of variants in gene EVC2 reported as uncertain significance for Ellis-van Creveld syndrome

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Total variants: 105
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HGVS dbSNP
NM_147127.5(EVC2):c.*105C>T
NM_147127.5(EVC2):c.*141A>G rs565382969
NM_147127.5(EVC2):c.*68T>C rs886059470
NM_147127.5(EVC2):c.*90C>T rs115810595
NM_147127.5(EVC2):c.-29C>A
NM_147127.5(EVC2):c.1079T>A (p.Leu360His)
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129
NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del) rs1553846622
NM_147127.5(EVC2):c.1122G>A (p.Gly374=)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn) rs1553840668
NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp) rs1553840593
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln) rs774976776
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710
NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del) rs1553855096
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser) rs886059491
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu)
NM_147127.5(EVC2):c.1711-20_1711-19dup rs35103377
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys)
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603
NM_147127.5(EVC2):c.1886+11A>G rs61218140
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp)
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242
NM_147127.5(EVC2):c.2130_2132GAG[1] (p.Arg711del) rs1553833065
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val)
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn) rs1191013607
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443
NM_147127.5(EVC2):c.2347_2349del (p.Glu783del) rs1553832710
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val)
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415
NM_147127.5(EVC2):c.2668G>A (p.Val890Met)
NM_147127.5(EVC2):c.2706+13T>C rs200000369
NM_147127.5(EVC2):c.2707-9C>G
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898
NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys) rs761946397
NM_147127.5(EVC2):c.2829+9A>C rs370232376
NM_147127.5(EVC2):c.284-10T>G
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485
NM_147127.5(EVC2):c.2962_2964CTC[1] (p.Leu989del) rs775393091
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val) rs548381022
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu) rs886059493
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln)
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3115_3117CAG[3] (p.Gln1042del) rs774915706
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro)
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val) rs750108569
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys)
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr)
NM_147127.5(EVC2):c.3272+7C>T rs201048030
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu)
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe)
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514
NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del) rs1553813318
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562
NM_147127.5(EVC2):c.3599_3601GAG[1] (p.Gly1201del) rs1227016096
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg)
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr)
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890
NM_147127.5(EVC2):c.3863del (p.Pro1288fs) rs1553811729
NM_147127.5(EVC2):c.3876_3878GAA[1] (p.Lys1293del) rs752839237
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val)
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys)
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132
NM_147127.5(EVC2):c.451-15T>C
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp) rs1560228138
NM_147127.5(EVC2):c.597C>T (p.Asn199=)
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg)
NM_147127.5(EVC2):c.706+13C>T
NM_147127.5(EVC2):c.707T>C (p.Val236Ala) rs764307512
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly)
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly)
NM_147127.5(EVC2):c.889C>G (p.Leu297Val) rs886059492
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg) rs1467471693
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)
NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del) rs1553855115

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