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EmVClass

EGL's Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by EGL Genetics for that gene.
EGL 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  
1EYSEx1NM_001142800.1:c.-459C>TNM_001142800.1:c.-459C>T, NM_001142801.1:c.-459C>TVOUS12/05/2018
2EYSEx4NM_001142800.1:c.334G>Ap.Val112Ile | p.V112INM_001142800.1:c.334G>A, NM_001142801.1:c.334G>A, NM_198283.1:c.334G>ABenign06/17/2014 
3EYSEx4NM_001142800.1:c.359C>Tp.Thr120Met | p.T120MNM_001142800.1:c.359C>T, NM_001142801.1:c.359C>T, NM_198283.1:c.359C>TBenign06/12/2014 
4EYSEx4NM_001142800.1:c.490C>Tp.Arg164* | p.R164XNM_001142800.1:c.490C>T, NM_001142801.1:c.490C>T, NM_198283.1:c.490C>TPathogenic04/12/2017 
5EYSEx6NM_001142800.1:c.988G>Ap.Glu330Lys | p.E330KNM_001142800.1:c.988G>A, NM_001142801.1:c.988G>A, NM_198283.1:c.988G>ABenign04/14/2016 
6EYSEx7NM_001142800.1:c.1082T>Cp.Ile361Thr | p.I361TNM_001142800.1:c.1082T>C, NM_001142801.1:c.1082T>C, NM_198283.1:c.1082T>CVOUS01/26/2017
7EYSEx11NM_001142800.1:c.1660T>Ap.Cys554Ser | p.C554SNM_001142800.1:c.1660T>A, NM_001142801.1:c.1660T>A, NM_198283.1:c.1660T>AVOUS09/17/2019
8EYSEx12NM_001142800.1:c.1799T>Gp.Leu600Trp | p.L600WNM_001142800.1:c.1799T>GVOUS05/07/2014
9EYSEx12NM_001142800.1:c.1800G>Tp.Leu600Phe | p.L600FNM_001142800.1:c.1800G>TVOUS12/19/2014
10EYSEx12NM_001142800.1:c.1809C>Tp.Val603= | p.V603=NM_001142800.1:c.1809C>TBenign03/17/2014 
11EYSEx12NM_001142800.1:c.1852G>Ap.Gly618Ser | p.G618SNM_001142800.1:c.1852G>AVOUS01/29/2019
12EYSEx12NM_001142800.1:c.1891G>Ap.Gly631Ser | p.G631SNM_001142800.1:c.1891G>ABenign03/17/2014 
13EYSEx12NM_001142800.1:c.1922A>Tp.Glu641Val | p.E641VNM_001142800.1:c.1922A>TBenign03/03/2014 
14EYSEx12NM_001142800.1:c.1985G>Tp.Arg662Met | p.R662MNM_001142800.1:c.1985G>TBenign06/10/2014 
15EYSEx13NM_001142800.1:c.2055T>Ap.Cys685* | p.C685XNM_001142800.1:c.2055T>APathogenic05/08/2015 
16EYSEx14NM_001142800.1:c.2194C>Tp.Gln732* | p.Q732XNM_001142800.1:c.2194C>TPathogenic01/20/2015 
17EYSEx14NM_001142800.1:c.2234A>Gp.Asn745Ser | p.N745SNM_001142800.1:c.2234A>GVOUS08/13/2014
18EYSEx15NM_001142800.1:c.2309A>Cp.Gln770Pro | p.Q770PNM_001142800.1:c.2309A>CVOUS04/15/2019
19EYSEx16NM_001142800.1:c.2500G>Ap.Val834Ile | p.V834INM_001142800.1:c.2500G>ABenign08/21/2014 
20EYSEx16NM_001142800.1:c.2555T>Cp.Leu852Pro | p.L852PNM_001142800.1:c.2555T>CBenign09/19/2013 
21EYSEx18NM_001142800.1:c.2813A>Gp.Lys938Arg | p.K938RNM_001142800.1:c.2813A>GVOUS10/20/2014
22EYSEx19NM_001142800.1:c.2971C>Tp.Leu991Phe | p.L991FNM_001142800.1:c.2971C>TVOUS10/05/2017
23EYSEx22NM_001142800.1:c.3250A>Cp.Thr1084Pro | p.T1084PNM_001142800.1:c.3250A>CVOUS01/20/2015
24EYSEx22NM_001142800.1:c.3443+1G>TNM_001142800.1:c.3443+1G>TPathogenic01/20/2015 
25EYSEx22NM_001142800.1:c.3443+1G>APathogenic07/18/2019 
26EYSEx23NM_001142800.1:c.3568+5T>CNM_001142800.1:c.3568+5T>CVOUS11/20/2014
27EYSEx26NM_001142800.1:c.3906C>Tp.His1302= | p.H1302=NM_001142800.1:c.3906C>TBenign09/19/2013 
28EYSEx26NM_001142800.1:c.3936A>Gp.Thr1312= | p.T1312=NM_001142800.1:c.3936A>GBenign09/19/2013 
29EYSEx26NM_001142800.1:c.3973C>Gp.Gln1325Glu | p.Q1325ENM_001142800.1:c.3973C>GBenign09/19/2013 
30EYSEx26NM_001142800.1:c.4026C>Tp.Ser1342= | p.S1342=NM_001142800.1:c.4026C>TBenign09/19/2013 
31EYSEx26NM_001142800.1:c.4039T>Cp.Ser1347Pro | p.S1347PNM_001142800.1:c.4039T>CVOUS12/17/2013
32EYSEx26NM_001142800.1:c.4081A>Gp.Ile1361Val | p.I1361VNM_001142800.1:c.4081A>GBenign09/19/2013 
33EYSEx26NM_001142800.1:c.4256T>Cp.Leu1419Ser | p.L1419SNM_001142800.1:c.4256T>CBenign08/09/2013 
34EYSEx26NM_001142800.1:c.4350_4356delTATAGCTp.Ile1451Profs*3 | p.I1451PfsX3NM_001142800.1:c.4350_4356delTATAGCTPathogenic06/24/2014 
35EYSEx26NM_001142800.1:c.4352T>Cp.Ile1451Thr | p.I1451TNM_001142800.1:c.4352T>CBenign09/19/2013 
36EYSEx26NM_001142800.1:c.4402G>Cp.Asp1468His | p.D1468HNM_001142800.1:c.4402G>CVOUS01/20/2015
37EYSEx26NM_001142800.1:c.4543C>Tp.Arg1515Trp | p.R1515WNM_001142800.1:c.4543C>TBenign09/19/2013 
38EYSEx26NM_001142800.1:c.4549A>Gp.Ser1517Gly | p.S1517GNM_001142800.1:c.4549A>GBenign09/19/2013 
39EYSEx26NM_001142800.1:c.4593G>Ap.Glu1531= | p.E1531=NM_001142800.1:c.4593G>ABenign09/19/2013 
40EYSEx26NM_001142800.1:c.4610_4611delGAp.Arg1537Thrfs*10 | p.R1537TfsX10NM_001142800.1:c.4610_4611delGAPathogenic10/01/2015 
41EYSEx26NM_001142800.1:c.4829_4832delCATTp.Ser1610Phefs*7 | p.S1610FfsX7NM_001142800.1:c.4829_4832delCATTPathogenic08/02/2016 
42EYSEx26NM_001142800.1:c.4985A>Tp.Asp1662Val | p.D1662VNM_001142800.1:c.4985A>TLikely benign05/02/2014 
43EYSEx26NM_001142800.1:c.5244A>Cp.Leu1748Phe | p.L1748FNM_001142800.1:c.5244A>CBenign10/08/2013 
44EYSEx26NM_001142800.1:c.5335G>Ap.Gly1779Ser | p.G1779SNM_001142800.1:c.5335G>AVOUS07/28/2015
45EYSEx26NM_001142800.1:c.5474C>Ap.Thr1825Asn | p.T1825NNM_001142800.1:c.5474C>AVOUS01/31/2014
46EYSEx26NM_001142800.1:c.5487A>Gp.Lys1829= | p.K1829=NM_001142800.1:c.5487A>GVOUS11/18/2016
47EYSEx26NM_001142800.1:c.5510G>Cp.Trp1837Ser | p.W1837SNM_001142800.1:c.5510G>CLikely benign11/19/2014 
48EYSEx26NM_001142800.1:c.5601T>Cp.Ser1867= | p.S1867=NM_001142800.1:c.5601T>CBenign09/25/2013 
49EYSEx26NM_001142800.1:c.5617C>Gp.Leu1873Val | p.L1873VNM_001142800.1:c.5617C>GBenign09/25/2013 
50EYSEx26NM_001142800.1:c.5644+5G>ANM_001142800.1:c.5644+5G>AVOUS12/29/2016
51EYSEx27NM_001142800.1:c.5645-8C>TNM_001142800.1:c.5645-8C>TVOUS09/21/2016
52EYSEx27NM_001142800.1:c.5743A>Gp.Ser1915Gly | p.S1915GNM_001142800.1:c.5743A>GVOUS12/19/2016
53EYSEx27NM_001142800.1:c.5777A>Gp.Asp1926Gly | p.D1926GVOUS03/11/2014
54EYSEx27NM_001142800.1:c.5830T>Ap.Leu1944Ile | p.L1944INM_001142800.1:c.5830T>AVOUS11/15/2016
55EYSEx29NM_001142800.1:c.5977A>Gp.Thr1993Ala | p.T1993ANM_001142800.1:c.5977A>GBenign09/17/2013 
56EYSEx29NM_001142800.1:c.6025A>Gp.Lys2009Glu | p.K2009ENM_001142800.1:c.6025A>GLikely benign03/30/2015 
57EYSEx30NM_001142800.1:c.6079-4_6079-3delTCNM_001142800.1:c.6079-4_6079-3delTCBenign06/12/2014 
58EYSEx30NM_001142800.1:c.6119T>Ap.Val2040Asp | p.V2040DNM_001142800.1:c.6119T>ALikely benign06/17/2014 
59EYSEx31NM_001142800.1:c.6229G>Ap.Val2077Ile | p.V2077INM_001142800.1:c.6229G>AVOUS04/15/2019
60EYSEx31NM_001142800.1:c.6416G>Ap.Cys2139Tyr | p.C2139YNM_001142800.1:c.6416G>APathogenic12/29/2016 
61EYSEx32NM_001142800.1:c.6475C>Tp.Pro2159Ser | p.P2159SNM_001142800.1:c.6475C>TVOUS04/17/2014
62EYSEx34NM_001142800.1:c.6794delCp.Pro2265Glnfs*46 | p.P2265QfsX46NM_001142800.1:c.6794delCPathogenic06/12/2015 
63EYSEx35NM_001142800.1:c.6977G>Ap.Arg2326Gln | p.R2326QNM_001142800.1:c.6977G>ABenign09/19/2013 
64EYSEx36NM_001142800.1:c.7095T>Gp.Tyr2365* | p.Y2365XNM_001142800.1:c.7095T>GPathogenic09/10/2013 
65EYSEx38NM_001142800.1:c.7422_7423delCGNM_001142800.1:c.7422_7423delCGPathogenic11/14/2016 
66EYSEx39NM_001142800.1:c.7666A>Tp.Ser2556Cys | p.S2556CNM_001142800.1:c.7666A>TBenign02/19/2014 
67EYSEx40NM_001142800.1:c.7737T>Cp.Thr2579= | p.T2579=NM_001142800.1:c.7737T>CVOUS09/28/2017
68EYSEx41NM_001142800.1:c.8003G>Tp.Cys2668Phe | p.C2668FNM_001142800.1:c.8003G>TVOUS07/27/2018
69EYSEx42NM_001142800.1:c.8080A>Gp.Ile2694Val | p.I2694VNM_001142800.1:c.8080A>GVOUS06/12/2014
70EYSEx42NM_001142800.1:c.8133_8137delCTTTCp.Phe2712Cysfs*33 | p.F2712CfsX33NM_001142800.1:c.8133_8137delCTTTCPathogenic05/24/2019 
71EYSEx42NM_001142800.1:c.8138A>Gp.His2713Arg | p.H2713RNM_001142800.1:c.8138A>GVOUS08/25/2014
72EYSEx43NM_001142800.1:c.8314delAp.Thr2772Leufs*5 | p.T2772LfsX5NM_001142800.1:c.8314delAPathogenic09/06/2017 
73EYSEx43NM_001142800.1:c.8408dupANM_001142800.1:c.8408dupPathogenic09/10/2013 
74EYSEx43NM_001142800.1:c.8422G>Ap.Ala2808Thr | p.A2808TNM_001142800.1:c.8422G>ALikely benign05/24/2016 
75EYSEx43NM_001142800.1:c.8429C>Tp.Thr2810Ile | p.T2810INM_001142800.1:c.8429C>TBenign04/13/2016 
76EYSEx43NM_001142800.1:c.8789A>Gp.Asp2930Gly | p.D2930GNM_001142800.1:c.8789A>GVOUS07/14/2015
77EYSEx43NM_001142800.1:c.9030A>Gp.Ala3010= | p.A3010=NM_001142800.1:c.9030A>GBenign04/29/2014 
78EYSEx43NM_001142800.1:c.9130T>Cp.Trp3044Arg | p.W3044RNM_001142800.1:c.9130T>CVOUS03/21/2017
79EYSEx43NM_001142800.1:c.9186_9187delCAp.Asn3062Lysfs*9 | p.N3062KfsX9NM_001142800.1:c.9186_9187delCAPathogenic08/25/2016 
80EYSEx43NM_001142800.1:c.9286_9295delGTAAATATCGNM_001142800.1:c.9286_9295delGTAAATATCGPathogenic08/02/2016 
81EYSEx43NM_001142800.1:c.9345_9347delTGTNM_001142800.1:c.9345_9347delTGTBenign07/28/2015 
82EYSEx43NM_001142800.1:c.9400delGNM_001142800.1:c.9400delGLikely pathogenic10/01/2015 

* 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 EGL 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.2020-Q1.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 EGL clinical report and should be approached with caution. Only variants identified at EGL are listed in the EmVClass. If you intend to use EGL's classification for publication purposes please contact the laboratory for permission.