List of variants reported as benign for Ellis-van Creveld syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 101

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HGVS	dbSNP
NM_147127.5(EVC2):c.*384T>A	rs2287576
NM_147127.5(EVC2):c.*394A>G	rs138063943
NM_147127.5(EVC2):c.-15G>A	rs76269601
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu)	rs199708349
NM_147127.5(EVC2):c.1059C>T (p.Gly353=)	rs77793386
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala)	rs138972736
NM_147127.5(EVC2):c.1311A>G (p.Leu437=)	rs77131452
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)	rs73063795
NM_147127.5(EVC2):c.1437A>G (p.Glu479=)	rs13131655
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)	rs113869406
NM_147127.5(EVC2):c.1845C>T (p.Thr615=)	rs112747818
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)	rs186197620
NM_147127.5(EVC2):c.2046+5A>G	rs6850875
NM_147127.5(EVC2):c.2061T>C (p.Arg687=)	rs73198153
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala)	rs730469
NM_147127.5(EVC2):c.2151C>T (p.His717=)	rs144584049
NM_147127.5(EVC2):c.2235A>G (p.Glu745=)	rs60121553
NM_147127.5(EVC2):c.2394G>A (p.Arg798=)	rs147173201
NM_147127.5(EVC2):c.2395G>C (p.Asp799His)	rs143491078
NM_147127.5(EVC2):c.2487G>A (p.Glu829=)	rs16837501
NM_147127.5(EVC2):c.2707-5T>C	rs186058156
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)	rs116502852
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu)	rs60809236
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)	rs75829835
NM_147127.5(EVC2):c.307T>C (p.Leu103=)	rs140877783
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)	rs73074138
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)	rs112554914
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=)	rs116076068
NM_147127.5(EVC2):c.3507C>T (p.His1169=)	rs12511039
NM_147127.5(EVC2):c.3557+10G>A	rs116218656
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)	rs76523157
NM_147127.5(EVC2):c.519+15G>A	rs17688121
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)	rs6820907
NM_147127.5(EVC2):c.675A>G (p.Gly225=)	rs74930168
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)	rs4689278
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg)	rs114024753
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp)	rs114142742
NM_153717.3(EVC):c.*1060A>C	rs71599848
NM_153717.3(EVC):c.*1083T>G	rs71599850
NM_153717.3(EVC):c.*1185A>G	rs113728951
NM_153717.3(EVC):c.*1218C>T	rs12501119
NM_153717.3(EVC):c.*1318G>C	rs67547790
NM_153717.3(EVC):c.*1375A>G	rs114994758
NM_153717.3(EVC):c.*14G>A	rs2291151
NM_153717.3(EVC):c.*1648T>C	rs371788560
NM_153717.3(EVC):c.*1700C>T	rs74690944
NM_153717.3(EVC):c.*1845del	rs397690241
NM_153717.3(EVC):c.*1849C>G	rs75438311
NM_153717.3(EVC):c.*2009T>C	rs79152885
NM_153717.3(EVC):c.*210C>A	rs16837692
NM_153717.3(EVC):c.*2132A>G	rs11939264
NM_153717.3(EVC):c.*2268G>A	rs4261923
NM_153717.3(EVC):c.*2277G>C	rs28452978
NM_153717.3(EVC):c.*2285C>G	rs145479436
NM_153717.3(EVC):c.*2417T>C	rs6848370
NM_153717.3(EVC):c.*2466G>A
NM_153717.3(EVC):c.*2617G>A	rs3733186
NM_153717.3(EVC):c.*2680G>A	rs3733187
NM_153717.3(EVC):c.*2708G>A	rs79112570
NM_153717.3(EVC):c.*2713C>T	rs3733188
NM_153717.3(EVC):c.*2871C>T	rs3733189
NM_153717.3(EVC):c.*3165T>C	rs3755847
NM_153717.3(EVC):c.*53T>C	rs7676531
NM_153717.3(EVC):c.*615C>T	rs73079505
NM_153717.3(EVC):c.*748T>C	rs62297707
NM_153717.3(EVC):c.*820C>T	rs137860758
NM_153717.3(EVC):c.*908G>A	rs13119698
NM_153717.3(EVC):c.*931T>C	rs6840435
NM_153717.3(EVC):c.1026G>C (p.Leu342=)	rs4688962
NM_153717.3(EVC):c.1068A>G (p.Leu356=)	rs33929747
NM_153717.3(EVC):c.1096C>T (p.Leu366=)	rs6854138
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)	rs28483498
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)	rs60582583
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	rs35953626
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)	rs116952023
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)	rs2302075
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)	rs571637567
NM_153717.3(EVC):c.1464+8A>G	rs116236414
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)	rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=)	rs11737221
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)	rs111293777
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)	rs2291157
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)	rs2279252
NM_153717.3(EVC):c.2305-8T>C	rs1031919
NM_153717.3(EVC):c.2363G>A (p.Arg788His)	rs73795088
NM_153717.3(EVC):c.2373G>A (p.Gln791=)	rs73795089
NM_153717.3(EVC):c.2449+15del	rs398092136
NM_153717.3(EVC):c.249A>G (p.Ser83=)	rs35870680
NM_153717.3(EVC):c.2505G>A (p.Ser835=)	rs115976359
NM_153717.3(EVC):c.2562-4C>G	rs60082311
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)	rs35287723
NM_153717.3(EVC):c.341C>T (p.Ala114Val)	rs16837598
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)	rs150284356
NM_153717.3(EVC):c.769C>T (p.Leu257=)	rs6446393
NM_153717.3(EVC):c.772T>C (p.Tyr258His)	rs6414624
NM_153717.3(EVC):c.780G>A (p.Lys260=)	rs41269555
NM_153717.3(EVC):c.802-15C>T	rs4689313
NM_153717.3(EVC):c.939+10A>G	rs2286342
NM_153717.3(EVC):c.939+11G>T	rs55955937
NM_153717.3(EVC):c.939+4C>T	rs2286343
NM_153717.3(EVC):c.969T>C (p.Asn323=)	rs4688963

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