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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