ClinVar Miner

List of variants reported as pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome by Invitae

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Total variants: 77
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HGVS dbSNP
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter)
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs)
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter)
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs)
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs)
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015
NM_147127.5(EVC2):c.3446_3453CAGCCTCA[3] (p.Gln1154fs)
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs)
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.519+2T>C
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter)
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
NM_147127.5(EVC2):c.824_825CA[1] (p.Gln276fs)
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1387dup (p.Thr463fs)
NM_153717.3(EVC):c.155del (p.Arg52fs)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.1777-2A>G rs909612975
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)

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