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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  
1PDE6BEx1NM_000283.3:c.132C>Gp.Cys44Trp | p.C44WNM_000283.3:c.132C>G, NM_001145291.1:c.132C>GBenign03/30/2015 
2PDE6BEx1NM_000283.3:c.267C>Tp.Ala89= | p.A89=NM_000283.3:c.267C>T, NM_001145291.1:c.267C>TVOUS04/29/2014
3PDE6BEx1NM_000283.3:c.299G>Ap.Arg100His | p.R100HNM_000283.3:c.299G>A, NM_001145291.1:c.299G>AVOUS01/13/2015
4PDE6BEx1NM_000283.3:c.313G>Ap.Glu105Lys | p.E105KNM_000283.3:c.313G>A, NM_001145291.1:c.313G>AVOUS09/19/2013
5PDE6BEx1NM_000283.3:c.373C>Gp.Pro125Ala | p.P125ANM_000283.3:c.373C>G, NM_001145291.1:c.373C>GBenign07/28/2015 
6PDE6BEx1NM_000283.3:c.384C>Tp.Ser128= | p.S128=NM_000283.3:c.384C>T, NM_001145291.1:c.384C>TBenign07/28/2015 
7PDE6BEx2NM_000283.3:c.485C>Tp.Ser162Leu | p.S162LVOUS10/10/2014
8PDE6BEx2NM_000283.3:c.615C>Tp.Asp205= | p.D205=NM_000283.3:c.615C>T, NM_001145291.1:c.615C>TBenign10/02/2013 
9PDE6BEx3NM_000283.3:c.655T>Cp.Tyr219His | p.Y219HNM_000283.3:c.655T>C, NM_001145291.1:c.655T>CBenign02/18/2014 
10PDE6BEx3NM_000283.3:c.711+10C>TNM_000283.3:c.711+10C>T, NM_001145291.1:c.711+10C>TBenign06/07/2016 
11PDE6BEx4NM_000283.3:c.794G>Ap.Arg265Gln | p.R265QNM_000283.3:c.794G>A, NM_001145291.1:c.794G>A, NM_001145292.1:c.-44G>A, XM_005272279.1:c.-44G>A, XM_005272280.1:c.-44G>A, XR_110581.1:n.1300C>T, XR_246615.1:n.817C>TVOUS04/28/2015
12PDE6BEx4NM_000283.3:c.811G>Ap.Glu271Lys | p.E271KNM_000283.3:c.811G>A, NM_001145291.1:c.811G>A, NM_001145292.1:c.-27G>A, XM_005272279.1:c.-27G>A, XM_005272280.1:c.-27G>A, XR_110581.1:n.1283C>T, XR_246615.1:n.800C>TVOUS10/06/2016
13PDE6BEx5NM_000283.3:c.892C>Tp.Gln298* | p.Q298XNM_000283.3:c.892C>T, NM_001145291.1:c.892C>T, NM_001145292.1:c.55C>T, XM_005272279.1:c.55C>T, XM_005272280.1:c.55C>T, XR_110581.1:n.1208G>A, XR_246615.1:n.725G>APathogenic08/04/2014 
14PDE6BEx5NM_000283.3:c.905G>Ap.Gly302Asp | p.G302DNM_000283.3:c.905G>A, NM_001145291.1:c.905G>A, NM_001145292.1:c.68G>A, XM_005272279.1:c.68G>A, XM_005272280.1:c.68G>A, XR_110581.1:n.1195C>T, XR_246615.1:n.712C>TVOUS11/23/2014
15PDE6BEx5NM_000283.3:c.915G>Ap.Thr305= | p.T305=NM_000283.3:c.915G>A, NM_001145291.1:c.915G>A, NM_001145292.1:c.78G>A, XM_005272279.1:c.78G>A, XM_005272280.1:c.78G>A, XR_110581.1:n.1185C>T, XR_246615.1:n.702C>TBenign08/04/2014 
16PDE6BEx6NM_000283.3:c.928-9_940dupGCTTCTCAGGAAATTGTCTTCTNM_000283.3:c.940_941insGCTTCTCAGGAAATTGTCTTCTLikely benign09/30/2016 
17PDE6BEx6NM_000283.3:c.958G>Ap.Val320Ile | p.V320INM_000283.3:c.958G>A, NM_001145291.1:c.958G>A, NM_001145292.1:c.121G>A, XR_110581.1:n.1113+228C>TBenign09/30/2016 
18PDE6BEx10NM_000283.3:c.1258-10T>AVOUS03/17/2014
19PDE6BEx10NM_000283.3:c.1401+4C>TNM_000283.3:c.1401+4C>T, NM_001145291.1:c.1401+4C>T, NM_001145292.1:c.564+4C>T, XR_110581.1:n.-1304G>ABenign12/17/2013 
20PDE6BEx10NM_000283.3:c.1401+7_1401+8insANM_000283.3:c.1401+7_1401+8insA, NM_001145291.1:c.1401+7_1401+8insA, NM_001145292.1:c.564+7_564+8insA, XR_110581.1:n.-1308_-1307insTBenign12/17/2013 
21PDE6BEx11NM_000283.3:c.1415G>Ap.Arg472His | p.R472HNM_000283.3:c.1415G>A, NM_001145291.1:c.1415G>A, NM_001145292.1:c.578G>A, XM_005272279.1:c.578G>A, XM_005272280.1:c.578G>A, XR_110581.1:n.-2771C>T, XR_246614.1:n.*3406C>T, XR_246615.1:n.-3254C>TVOUS03/12/2018
22PDE6BEx12NM_000283.3:c.1540delCNM_000283.3:c.1540delC, NM_001145291.1:c.1540delC, NM_001145292.1:c.703delC, XR_110581.1:n.-4345delGPathogenic10/08/2013 
23PDE6BEx13NM_000283.3:c.1685G>Ap.Gly562Asp | p.G562DNM_000283.3:c.1685G>A, NM_001145291.1:c.1685G>A, NM_001145292.1:c.848G>A, XM_005272279.1:c.848G>A, XM_005272280.1:c.848G>A, XR_246614.1:n.*167C>TVOUS01/20/2015
24PDE6BEx14NM_000283.3:c.1781G>Tp.Gly594Val | p.G594VNM_000283.3:c.1781G>T, NM_001145291.1:c.1781G>T, NM_001145292.1:c.944G>T, XM_005272279.1:c.944G>T, XM_005272280.1:c.944G>T, XR_246614.1:n.453C>AVOUS05/22/2017
25PDE6BEx15NM_000283.3:c.1860delCp.His620Glnfs*23 | p.H620QfsX23NM_000283.3:c.1860delC, NM_001145291.1:c.1860delC, NM_001145292.1:c.1023delC, XM_005272279.1:c.1023delC, XM_005272280.1:c.1023delC, XR_246614.1:n.415+75delGPathogenic01/02/2018 
26PDE6BEx17NM_000283.3:c.2061G>Cp.Lys687Asn | p.K687NNM_000283.3:c.2061G>C, NM_001145291.1:c.2061G>C, NM_001145292.1:c.1224G>C, XM_005272279.1:c.1224G>C, XM_005272280.1:c.1224G>C, XR_246614.1:n.-390C>GVOUS03/29/2018
27PDE6BEx18NM_000283.3:c.2152G>Ap.Asp718Asn | p.D718NNM_000283.3:c.2152G>A, NM_001145291.1:c.2152G>A, NM_001145292.1:c.1315G>A, XM_005272279.1:c.1315G>A, XM_005272280.1:c.1315G>A, XR_246614.1:n.-1140C>TVOUS03/23/2016
28PDE6BEx18NM_000283.3:c.2193+1G>ANM_000283.3:c.2193+1G>A, NM_001145291.1:c.2193+1G>A, NM_001145292.1:c.1356+1G>APathogenic03/11/2019 
29PDE6BEx18NM_000283.3:c.2193+15C>TNM_000283.3:c.2193+15C>T, NM_001145291.1:c.2193+15C>T, NM_001145292.1:c.1356+15C>T, XM_005272279.1:c.1356+15C>T, XM_005272280.1:c.1356+15C>T, XR_246614.1:n.-1196G>AVOUS09/12/2016
30PDE6BEx20NM_000283.3:c.2344G>Ap.Val782Met | p.V782MNM_000283.3:c.2344G>A, NM_001145291.1:c.2344G>A, NM_001145292.1:c.1507G>A, XM_005272279.1:c.1507G>A, XM_005272280.1:c.1507G>A, XR_246614.1:n.-2843C>TVOUS12/31/2014
31PDE6BEx22NM_000283.3:c.2504-1G>CNM_000283.3:c.2504-1G>C, NM_001145291.1:c.2504-4G>C, NM_001145292.1:c.1667-1G>C, NM_007100.2:c.*2455C>G, NM_007100.3:c.*2455C>G, NR_033743.1:n.*2391C>G, XM_005272279.1:c.1602-1G>C, XM_005272280.1:c.1602-1G>CVOUS06/22/2016
32PDE6BEx22NM_000283.3:c.2548A>Gp.Thr850Ala | p.T850ANM_000283.3:c.2548A>G, NM_001145291.1:c.2545A>G, NM_001145292.1:c.1711A>G, NM_007100.2:c.*2410T>C, NM_007100.3:c.*2410T>C, NR_033743.1:n.*2346T>C, XM_005272279.1:c.1646A>G, XM_005272280.1:c.1646A>GVOUS12/01/2016

* 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.2019-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 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.