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EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1GLI3Ex2NM_000168.5:c.29C>Ap.Thr10Asn | p.T10NNM_000168.5:c.29C>A, XM_005249703.1:c.29C>A, XM_005249704.1:c.29C>A, XM_005249705.1:c.29C>A, XM_005249707.1:c.29C>AVOUS06/20/2017
2GLI3Ex3NM_000168.5:c.223C>Gp.Pro75Ala | p.P75ANM_000168.5:c.223C>G, XM_005249703.1:c.223C>G, XM_005249704.1:c.223C>G, XM_005249705.1:c.223C>G, XM_005249706.1:c.46C>G, XM_005249707.1:c.223C>GVOUS03/02/2016
3GLI3Ex3NM_000168.5:c.245G>Ap.Arg82Lys | p.R82KNM_000168.5:c.245G>A, XM_005249703.1:c.245G>A, XM_005249704.1:c.245G>A, XM_005249705.1:c.245G>A, XM_005249706.1:c.68G>A, XM_005249707.1:c.245G>AVOUS02/26/2020
4GLI3Ex3NM_000168.5:c.341G>Ap.Arg114Lys | p.R114KNM_000168.5:c.341G>A, XM_005249703.1:c.341G>A, XM_005249704.1:c.341G>A, XM_005249705.1:c.341G>A, XM_005249706.1:c.164G>A, XM_005249707.1:c.341G>ALikely benign09/12/2017 
5GLI3Ex3NM_000168.5:c.363C>Tp.His121= | p.H121=NM_000168.5:c.363C>T, XM_005249703.1:c.363C>T, XM_005249704.1:c.363C>T, XM_005249705.1:c.363C>T, XM_005249706.1:c.186C>T, XM_005249707.1:c.363C>TLikely benign07/08/2016 
6GLI3Ex4NM_000168.5:c.368-7T>GNM_000168.5:c.368-7T>G, XM_005249703.1:c.368-7T>G, XM_005249704.1:c.368-7T>G, XM_005249705.1:c.368-7T>G, XM_005249706.1:c.191-7T>G, XM_005249707.1:c.368-7T>GVOUS03/27/2019
7GLI3Ex4NM_000168.5:c.411T>Cp.Ile137= | p.I137=NM_000168.5:c.411T>C, XM_005249703.1:c.411T>C, XM_005249704.1:c.411T>C, XM_005249705.1:c.411T>C, XM_005249706.1:c.234T>C, XM_005249707.1:c.411T>CVOUS10/10/2019
8GLI3Ex5NM_000168.5:c.547A>Gp.Thr183Ala | p.T183ANM_000168.5:c.547A>G, XM_005249703.1:c.547A>G, XM_005249704.1:c.547A>G, XM_005249705.1:c.547A>G, XM_005249706.1:c.370A>G, XM_005249707.1:c.547A>GBenign03/16/2016 
9GLI3Ex5NM_000168.5:c.648C>Tp.Ile216= | p.I216=NM_000168.5:c.648C>T, XM_005249703.1:c.648C>T, XM_005249704.1:c.648C>T, XM_005249705.1:c.648C>T, XM_005249706.1:c.471C>T, XM_005249707.1:c.648C>TVOUS06/23/2016
10GLI3Ex7NM_000168.5:c.840C>Gp.Ser280= | p.S280=NM_000168.5:c.840C>G, XM_005249703.1:c.840C>G, XM_005249704.1:c.840C>G, XM_005249705.1:c.840C>G, XM_005249706.1:c.663C>G, XM_005249707.1:c.840C>GLikely benign09/04/2015 
11GLI3Ex7NM_000168.5:c.1002T>Ap.Tyr334* | p.Y334XNM_000168.5:c.1002T>A, XM_005249703.1:c.1002T>A, XM_005249704.1:c.1002T>A, XM_005249705.1:c.1002T>A, XM_005249706.1:c.825T>A, XM_005249707.1:c.1002T>APathogenic06/21/2018 
12GLI3Ex7NM_000168.5:c.1008C>Ap.His336Gln | p.H336QNM_000168.5:c.1008C>A, XM_005249703.1:c.1008C>A, XM_005249704.1:c.1008C>A, XM_005249705.1:c.1008C>A, XM_005249706.1:c.831C>A, XM_005249707.1:c.1008C>AVOUS06/21/2018
13GLI3Ex7NM_000168.5:c.1024A>Gp.Ile342Val | p.I342VNM_000168.5:c.1024A>G, XM_005249703.1:c.1024A>G, XM_005249704.1:c.1024A>G, XM_005249705.1:c.1024A>G, XM_005249706.1:c.847A>G, XM_005249707.1:c.1024A>GVOUS08/08/2019
14GLI3Ex8NM_000168.5:c.1182A>Gp.Pro394= | p.P394=NM_000168.5:c.1182A>G, XM_005249703.1:c.1182A>G, XM_005249704.1:c.1182A>G, XM_005249705.1:c.1182A>G, XM_005249706.1:c.1005A>G, XM_005249707.1:c.1182A>GVOUS12/07/2018
15GLI3Ex9NM_000168.5:c.1346G>Cp.Arg449Pro | p.R449PNM_000168.5:c.1346G>C, XM_005249703.1:c.1346G>C, XM_005249704.1:c.1346G>C, XM_005249705.1:c.1346G>C, XM_005249706.1:c.1169G>C, XM_005249707.1:c.1346G>CVOUS09/10/2015
16GLI3Ex9NM_000168.5:c.1356+11G>CNM_000168.5:c.1356+11G>C, XM_005249703.1:c.1356+11G>C, XM_005249704.1:c.1356+11G>C, XM_005249705.1:c.1356+11G>C, XM_005249706.1:c.1179+11G>C, XM_005249707.1:c.1356+11G>CBenign09/10/2015 
17GLI3Ex10NM_000168.5:c.1357-17C>GNM_000168.5:c.1357-17C>G, XM_005249703.1:c.1357-17C>G, XM_005249704.1:c.1357-17C>G, XM_005249705.1:c.1357-17C>G, XM_005249706.1:c.1180-17C>G, XM_005249707.1:c.1357-17C>GBenign03/23/2017 
18GLI3Ex10NM_000168.5:c.1357-3C>TNM_000168.5:c.1357-3C>T, XM_005249703.1:c.1357-3C>T, XM_005249704.1:c.1357-3C>T, XM_005249705.1:c.1357-3C>T, XM_005249706.1:c.1180-3C>T, XM_005249707.1:c.1357-3C>TVOUS06/01/2016
19GLI3Ex10NM_000168.5:c.1393G>Cp.Gly465Arg | p.G465RNM_000168.5:c.1393G>C, XM_005249703.1:c.1393G>C, XM_005249704.1:c.1393G>C, XM_005249705.1:c.1393G>C, XM_005249706.1:c.1216G>C, XM_005249707.1:c.1393G>CBenign10/14/2016 
20GLI3Ex10NM_000168.5:c.1485G>Ap.Glu495= | p.E495=NM_000168.5:c.1485G>A, XM_005249703.1:c.1485G>A, XM_005249704.1:c.1485G>A, XM_005249705.1:c.1485G>A, XM_005249706.1:c.1308G>A, XM_005249707.1:c.1485G>AVOUS11/05/2015
21GLI3Ex11NM_000168.5:c.1498-6C>ANM_000168.5:c.1498-6C>A, XM_005249703.1:c.1498-6C>A, XM_005249704.1:c.1498-6C>A, XM_005249705.1:c.1498-6C>A, XM_005249706.1:c.1321-6C>A, XM_005249707.1:c.1498-6C>AVOUS05/20/2016
22GLI3Ex12NM_000168.5:c.1671C>Tp.Tyr557= | p.Y557=NM_000168.5:c.1671C>T, XM_005249703.1:c.1671C>T, XM_005249704.1:c.1671C>T, XM_005249705.1:c.1671C>T, XM_005249706.1:c.1494C>T, XM_005249707.1:c.1671C>TLikely benign08/10/2015 
23GLI3Ex13NM_000168.5:c.1959G>Ap.Pro653= | p.P653=NM_000168.5:c.1959G>A, XM_005249703.1:c.1959G>A, XM_005249704.1:c.1959G>A, XM_005249705.1:c.1959G>A, XM_005249706.1:c.1782G>A, XM_005249707.1:c.1813-4559G>AVOUS08/19/2016
24GLI3Ex13NM_000168.5:c.2003C>Gp.Pro668Arg | p.P668RNM_000168.5:c.2003C>G, XM_005249703.1:c.2003C>G, XM_005249704.1:c.2003C>G, XM_005249705.1:c.2003C>G, XM_005249706.1:c.1826C>G, XM_005249707.1:c.1813-4515C>GVOUS09/12/2017
25GLI3Ex13NM_000168.5:c.2006C>Tp.Thr669Ile | p.T669INM_000168.5:c.2006C>T, XM_005249703.1:c.2006C>T, XM_005249704.1:c.2006C>T, XM_005249705.1:c.2006C>T, XM_005249706.1:c.1829C>T, XM_005249707.1:c.1813-4512C>TLikely benign11/03/2017 
26GLI3Ex13NM_000168.5:c.2032G>Tp.Asp678Tyr | p.D678YNM_000168.5:c.2032G>T, XM_005249703.1:c.2032G>T, XM_005249704.1:c.2032G>T, XM_005249705.1:c.2032G>T, XM_005249706.1:c.1855G>T, XM_005249707.1:c.1813-4486G>TVOUS03/02/2016
27GLI3Ex13NM_000168.5:c.2074G>Cp.Val692Leu | p.V692LNM_000168.5:c.2074G>C, XM_005249703.1:c.2074G>C, XM_005249704.1:c.2074G>C, XM_005249705.1:c.2074G>C, XM_005249706.1:c.1897G>C, XM_005249707.1:c.1813-4444G>CVOUS09/26/2019
28GLI3Ex14NM_000168.5:c.2174A>Cp.Asn725Thr | p.N725TNM_000168.5:c.2174A>C, XM_005249703.1:c.2174A>C, XM_005249704.1:c.2174A>C, XM_005249705.1:c.2174A>C, XM_005249706.1:c.1997A>C, XM_005249707.1:c.1883A>CVOUS02/05/2018
29GLI3Ex14NM_000168.5:c.2179G>Ap.Gly727Arg | p.G727RNM_000168.5:c.2179G>A, XM_005249703.1:c.2179G>A, XM_005249704.1:c.2179G>A, XM_005249705.1:c.2179G>A, XM_005249706.1:c.2002G>A, XM_005249707.1:c.1888G>ABenign11/22/2014 
30GLI3Ex14NM_000168.5:c.2200G>Ap.Asp734Asn | p.D734NNM_000168.5:c.2200G>A, XM_005249703.1:c.2200G>A, XM_005249704.1:c.2200G>A, XM_005249705.1:c.2200G>A, XM_005249706.1:c.2023G>A, XM_005249707.1:c.1909G>AVOUS01/06/2017
31GLI3Ex14NM_000168.5:c.2224A>Gp.Ser742Gly | p.S742GNM_000168.5:c.2224A>G, XM_005249703.1:c.2224A>G, XM_005249704.1:c.2224A>G, XM_005249705.1:c.2224A>G, XM_005249706.1:c.2047A>G, XM_005249707.1:c.1933A>GVOUS05/06/2019
32GLI3Ex14NM_000168.5:c.2245A>Gp.Ile749Val | p.I749VNM_000168.5:c.2245A>G, XM_005249703.1:c.2245A>G, XM_005249704.1:c.2245A>G, XM_005249705.1:c.2245A>G, XM_005249706.1:c.2068A>G, XM_005249707.1:c.1954A>GVOUS12/07/2015
33GLI3Ex14NM_000168.5:c.2309C>Tp.Ala770Val | p.A770VNM_000168.5:c.2309C>T, XM_005249703.1:c.2309C>T, XM_005249704.1:c.2309C>T, XM_005249705.1:c.2309C>T, XM_005249706.1:c.2132C>T, XM_005249707.1:c.2018C>TVOUS10/20/2017
34GLI3Ex14NM_000168.5:c.2373G>Ap.Pro791= | p.P791=NM_000168.5:c.2373G>A, XM_005249703.1:c.2373G>A, XM_005249704.1:c.2373G>A, XM_005249705.1:c.2373G>A, XM_005249706.1:c.2196G>A, XM_005249707.1:c.2082G>ABenign09/14/2017 
35GLI3Ex14NM_000168.5:c.2424A>Gp.Ile808Met | p.I808MNM_000168.5:c.2424A>G, XM_005249703.1:c.2424A>G, XM_005249704.1:c.2424A>G, XM_005249705.1:c.2424A>G, XM_005249706.1:c.2247A>G, XM_005249707.1:c.2133A>GBenign02/07/2017 
36GLI3Ex15NM_000168.5:c.2540G>Ap.Arg847Lys | p.R847KNM_000168.5:c.2540G>A, XM_005249703.1:c.2540G>A, XM_005249704.1:c.2540G>A, XM_005249705.1:c.2540G>A, XM_005249706.1:c.2363G>A, XM_005249707.1:c.2249G>AVOUS10/06/2016
37GLI3Ex15NM_000168.5:c.2652C>Tp.Gly884= | p.G884=NM_000168.5:c.2652C>T, XM_005249703.1:c.2652C>T, XM_005249704.1:c.2652C>T, XM_005249705.1:c.2652C>T, XM_005249706.1:c.2475C>T, XM_005249707.1:c.2361C>TVOUS08/24/2015
38GLI3Ex15NM_000168.5:c.2826G>Tp.Pro942= | p.P942=NM_000168.5:c.2826G>T, XM_005249703.1:c.2826G>T, XM_005249704.1:c.2826G>T, XM_005249705.1:c.2826G>T, XM_005249706.1:c.2649G>T, XM_005249707.1:c.2535G>TVOUS10/08/2015
39GLI3Ex15NM_000168.5:c.2826G>Cp.Pro942= | p.P942=NM_000168.5:c.2826G>C, XM_005249703.1:c.2826G>C, XM_005249704.1:c.2826G>C, XM_005249705.1:c.2826G>C, XM_005249706.1:c.2649G>C, XM_005249707.1:c.2535G>CBenign10/08/2014 
40GLI3Ex15NM_000168.5:c.2835G>Cp.Leu945= | p.L945=NM_000168.5:c.2835G>C, XM_005249703.1:c.2835G>C, XM_005249704.1:c.2835G>C, XM_005249705.1:c.2835G>C, XM_005249706.1:c.2658G>C, XM_005249707.1:c.2544G>CBenign05/20/2015 
41GLI3Ex15NM_000168.5:c.2993C>Tp.Pro998Leu | p.P998LNM_000168.5:c.2993C>T, XM_005249705.1:c.2993C>T, XM_005249706.1:c.2816C>TBenign02/23/2016 
42GLI3Ex15NM_000168.5:c.3083_3084delGCinsTTNM_000168.5:c.3083_3084delinsTT, XM_005249703.1:c.3083_3084delinsTT, XM_005249704.1:c.3083_3084delinsTT, XM_005249705.1:c.3083_3084delinsTT, XM_005249706.1:c.2906_2907delinsTT, XM_005249707.1:c.2792_2793delinsTTBenign04/28/2016 
43GLI3Ex15NM_000168.5:c.3119A>Tp.Glu1040Val | p.E1040VNM_000168.5:c.3119A>T, XM_005249703.1:c.3119A>T, XM_005249704.1:c.3119A>T, XM_005249705.1:c.3119A>T, XM_005249706.1:c.2942A>T, XM_005249707.1:c.2828A>TLikely benign11/16/2016 
44GLI3Ex15NM_000168.5:c.3598C>Gp.His1200Asp | p.H1200DNM_000168.5:c.3598C>G, XM_005249703.1:c.3598C>G, XM_005249704.1:c.3598C>G, XM_005249705.1:c.3598C>G, XM_005249706.1:c.3421C>G, XM_005249707.1:c.3307C>GBenign06/17/2019 
45GLI3Ex15NM_000168.5:c.3664C>Tp.Pro1222Ser | p.P1222SNM_000168.5:c.3664C>T, XM_005249703.1:c.3664C>T, XM_005249704.1:c.3664C>T, XM_005249705.1:c.3664C>T, XM_005249706.1:c.3487C>T, XM_005249707.1:c.3373C>TLikely benign02/04/2015 
46GLI3Ex15NM_000168.5:c.3756G>Ap.Pro1252= | p.P1252=NM_000168.5:c.3756G>A, XM_005249703.1:c.3756G>A, XM_005249704.1:c.3756G>A, XM_005249705.1:c.3756G>A, XM_005249706.1:c.3579G>A, XM_005249707.1:c.3465G>AVOUS03/01/2018
47GLI3Ex15NM_000168.5:c.3762T>Cp.Tyr1254= | p.Y1254=NM_000168.5:c.3762T>C, XM_005249703.1:c.3762T>C, XM_005249704.1:c.3762T>C, XM_005249705.1:c.3762T>C, XM_005249706.1:c.3585T>C, XM_005249707.1:c.3471T>CVOUS11/17/2015
48GLI3Ex15NM_000168.5:c.3829C>Gp.Gln1277Glu | p.Q1277ENM_000168.5:c.3829C>G, XM_005249703.1:c.3829C>G, XM_005249704.1:c.3829C>G, XM_005249705.1:c.3829C>G, XM_005249706.1:c.3652C>G, XM_005249707.1:c.3538C>GVOUS10/09/2015
49GLI3Ex15NM_000168.5:c.3855delCp.Met1286Cysfs*8 | p.M1286CfsX8NM_000168.5:c.3855delC, XM_005249703.1:c.3855delC, XM_005249704.1:c.3855delC, XM_005249705.1:c.3855delC, XM_005249706.1:c.3678delC, XM_005249707.1:c.3564delCPathogenic01/23/2020 
50GLI3Ex15NM_000168.5:c.3903A>Gp.Pro1301= | p.P1301=NM_000168.5:c.3903A>G, XM_005249703.1:c.3903A>G, XM_005249704.1:c.3903A>G, XM_005249705.1:c.3903A>G, XM_005249706.1:c.3726A>G, XM_005249707.1:c.3612A>GVOUS06/30/2016
51GLI3Ex15NM_000168.5:c.3935T>Gp.Met1312Arg | p.M1312RNM_000168.5:c.3935T>G, XM_005249703.1:c.3935T>G, XM_005249704.1:c.3935T>G, XM_005249705.1:c.3935T>G, XM_005249706.1:c.3758T>G, XM_005249707.1:c.3644T>GVOUS09/28/2015
52GLI3Ex15NM_000168.5:c.4005G>Ap.Pro1335= | p.P1335=NM_000168.5:c.4005G>A, XM_005249703.1:c.4005G>A, XM_005249704.1:c.4005G>A, XM_005249705.1:c.4005G>A, XM_005249706.1:c.3828G>A, XM_005249707.1:c.3714G>ALikely benign03/29/2017 
53GLI3Ex15NM_000168.5:c.4071C>Tp.Tyr1357= | p.Y1357=NM_000168.5:c.4071C>T, XM_005249703.1:c.4071C>T, XM_005249704.1:c.4071C>T, XM_005249705.1:c.4071C>T, XM_005249706.1:c.3894C>T, XM_005249707.1:c.3780C>TBenign02/12/2016 
54GLI3Ex15NM_000168.5:c.4349T>Gp.Phe1450Cys | p.F1450CNM_000168.5:c.4349T>G, XM_005249703.1:c.4349T>G, XM_005249704.1:c.4349T>G, XM_005249705.1:c.4349T>G, XM_005249706.1:c.4172T>G, XM_005249707.1:c.4058T>GVOUS08/19/2015
55GLI3Ex15NM_000168.5:c.4431dupTp.Glu1478* | p.E1478XNM_000168.5:c.4431dupT, XM_005249703.1:c.4431dupT, XM_005249704.1:c.4431dupT, XM_005249705.1:c.4431dupT, XM_005249706.1:c.4254dupT, XM_005249707.1:c.4140dupTPathogenic05/24/2019 
56GLI3Ex15NM_000168.5:c.4560G>Ap.Ser1520= | p.S1520=NM_000168.5:c.4560G>A, XM_005249703.1:c.4560G>A, XM_005249704.1:c.4560G>A, XM_005249705.1:c.4560G>A, XM_005249706.1:c.4383G>A, XM_005249707.1:c.4269G>AVOUS04/08/2016
57GLI3Ex15NM_000168.5:c.4609C>Tp.Arg1537Cys | p.R1537CNM_000168.5:c.4609C>T, XM_005249703.1:c.4609C>T, XM_005249704.1:c.4609C>T, XM_005249705.1:c.4609C>T, XM_005249706.1:c.4432C>T, XM_005249707.1:c.4318C>TBenign12/30/2019 
58GLI3Ex15NM_000168.5:c.4619C>Ap.Thr1540Lys | p.T1540KNM_000168.5:c.4619C>A, XM_005249703.1:c.4619C>A, XM_005249704.1:c.4619C>A, XM_005249705.1:c.4619C>A, XM_005249706.1:c.4442C>A, XM_005249707.1:c.4328C>AVOUS11/22/2016
59GLI3Ex15NM_000168.5:c.4642_4649dupCCAGCGCTp.Ser1551Glnfs*5 | p.S1551QfsX5NM_000168.5:c.4642_4649dupCCAGCGCT, XM_005249703.1:c.4642_4649dupCCAGCGCT, XM_005249704.1:c.4642_4649dupCCAGCGCT, XM_005249705.1:c.4642_4649dupCCAGCGCT, XM_005249706.1:c.4465_4472dupCCAGCGCT, XM_005249707.1:c.4351_4358dupCCAGCGCTLikely pathogenic04/17/2020 

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.