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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  
1WRNEx2NM_000553.4:c.95A>Gp.Lys32Arg | p.K32RLRG_524t1:c.95A>G, NM_000553.4:c.95A>G, XM_005273632.1:c.95A>GBenign04/24/2015 
2WRNEx3NM_000553.4:c.107G>Ap.Arg36Gln | p.R36QLRG_524t1:c.107G>A, NM_000553.4:c.107G>A, XM_005273632.1:c.107G>AVOUS05/17/2018
3WRNEx3NM_000553.4:c.197C>Tp.Ser66Leu | p.S66LVOUS12/17/2019
4WRNEx4NM_000553.4:c.229G>Cp.Asp77His | p.D77HNM_000553.4:c.229G>C, XM_005273632.1:c.229G>CVOUS11/05/2015
5WRNEx4NM_000553.4:c.340G>Ap.Val114Ile | p.V114ILRG_524t1:c.340G>A, NM_000553.4:c.340G>A, XM_005273632.1:c.340G>ABenign09/28/2016 
6WRNEx4NM_000553.4:c.355+4G>CLRG_524t1:c.355+4G>C, NM_000553.4:c.355+4G>C, XM_005273632.1:c.355+4G>CVOUS01/10/2020
7WRNEx5NM_000553.4:c.504+4A>GLRG_524t1:c.504+4A>G, NM_000553.4:c.504+4A>G, XM_005273632.1:c.504+4A>GVOUS06/05/2018
8WRNEx6NM_000553.4:c.561A>Gp.= | p.=LRG_524t1:c.561A>G, NM_000553.4:c.561A>G, XM_005273632.1:c.561A>GPathogenic10/14/2014 
9WRNEx7NM_000553.4:c.720T>Gp.Asn240Lys | p.N240KNM_000553.4:c.720T>G, XM_005273632.1:c.720T>GLikely benign04/10/2015 
10WRNEx8NM_000553.4:c.747C>Tp.Asp249= | p.D249=LRG_524t1:c.747C>T, NM_000553.4:c.747C>T, XM_005273632.1:c.747C>TVOUS09/06/2016
11WRNEx8NM_000553.4:c.769A>Gp.Ile257Val | p.I257VLRG_524t1:c.769A>G, NM_000553.4:c.769A>G, XM_005273632.1:c.769A>GVOUS09/14/2016
12WRNEx9NM_000553.4:c.970A>Gp.Thr324Ala | p.T324ANM_000553.4:c.970A>G, XM_005273632.1:c.970A>GLikely benign08/26/2014 
13WRNEx9NM_000553.4:c.1005A>Tp.Glu335Asp | p.E335DLRG_524t1:c.1005A>T, NM_000553.4:c.1005A>T, XM_005273632.1:c.1005A>TVOUS03/31/2016
14WRNEx9NM_000553.4:c.1105C>Tp.Arg369* | p.R369XLRG_524t1:c.1105C>T, NM_000553.4:c.1105C>T, XM_005273632.1:c.1105C>TPathogenic01/22/2019 
15WRNEx9NM_000553.4:c.1149G>Tp.Leu383Phe | p.L383FLRG_524t1:c.1149G>T, NM_000553.4:c.1149G>T, XM_005273632.1:c.1149G>TLikely benign05/20/2016 
16WRNEx12NM_000553.4:c.1530_1532delAGANM_000553.4:c.1530_1532delAGA, XM_005273632.1:c.1449_1451delAGAVOUS12/18/2014
17WRNEx12NM_000553.4:c.1530A>Tp.Glu510Asp | p.E510DNM_000553.4:c.1530A>T, XM_005273632.1:c.1449A>TLikely benign08/14/2014 
18WRNEx14NM_000553.4:c.1717A>Gp.Thr573Ala | p.T573ALRG_524t1:c.1717A>G, NM_000553.4:c.1717A>G, XM_005273632.1:c.1636A>GVOUS10/04/2018
19WRNEx16NM_000553.4:c.1879G>Ap.Val627Ile | p.V627ILRG_524t1:c.1879G>A, NM_000553.4:c.1879G>A, XM_005273632.1:c.1798G>AVOUS01/19/2017
20WRNEx17NM_000553.4:c.1909C>Tp.Arg637Trp | p.R637WNM_000553.4:c.1909C>T, XM_005273632.1:c.1828C>TVOUS01/27/2016
21WRNEx18NM_000553.4:c.1992C>Tp.Leu664= | p.L664=NM_000553.4:c.1992C>T, XM_005273632.1:c.1911C>TVOUS05/06/2015
22WRNEx18NM_000553.4:c.2067C>Tp.Ser689= | p.S689=LRG_524t1:c.2067C>T, NM_000553.4:c.2067C>T, XM_005273632.1:c.1986C>TVOUS01/23/2017
23WRNEx19NM_000553.4:c.2220G>Ap.Arg740= | p.R740=LRG_524t1:c.2220G>A, NM_000553.4:c.2220G>A, XM_005273632.1:c.2139G>AVOUS06/13/2019
24WRNEx19NM_000553.4:c.2222G>Ap.Arg741Gln | p.R741QLRG_524t1:c.2222G>A, NM_000553.4:c.2222G>A, XM_005273632.1:c.2141G>AVOUS11/01/2019
25WRNEx20NM_000553.4:c.2338G>Ap.Val780Ile | p.V780ILRG_524t1:c.2338G>A, NM_000553.4:c.2338G>A, XM_005273632.1:c.2257G>ALikely benign08/08/2019 
26WRNEx21NM_000553.4:c.2500C>Tp.Arg834Cys | p.R834CNM_000553.4:c.2500C>T, XM_005273632.1:c.2419C>TBenign01/28/2015 
27WRNEx21NM_000553.4:c.2521G>Ap.Ala841Thr | p.A841TNM_000553.4:c.2521G>A, XM_005273632.1:c.2440G>AVOUS04/03/2015
28WRNEx21NM_000553.4:c.2571T>Cp.Arg857= | p.R857=LRG_524t1:c.2571T>C, NM_000553.4:c.2571T>C, XM_005273632.1:c.2490T>CVOUS11/01/2019
29WRNEx23NM_000553.4:c.2784A>Gp.Gly928= | p.G928=LRG_524t1:c.2784A>G, NM_000553.4:c.2784A>G, XM_005273632.1:c.2703A>GVOUS12/14/2017
30WRNEx24NM_000553.4:c.2900dupTLRG_524t1:c.2900_2901insT, NM_000553.4:c.2900_2901insT, XM_005273632.1:c.2819_2820insTPathogenic01/25/2017 
31WRNEx24NM_000553.4:c.2940G>Cp.Gly980= | p.G980=LRG_524t1:c.2940G>C, NM_000553.4:c.2940G>C, XM_005273632.1:c.2859G>CVOUS03/14/2019
32WRNEx24NM_000553.4:c.2950T>Ap.Leu984Ile | p.L984INM_000553.4:c.2950T>A, XM_005273632.1:c.2869T>ABenign04/10/2015 
33WRNEx25NM_000553.4:c.2983G>Ap.Ala995Thr | p.A995TLRG_524t1:c.2983G>A, NM_000553.4:c.2983G>A, XM_005273632.1:c.2902G>ALikely benign05/20/2016 
34WRNEx25NM_000553.4:c.2986G>Ap.Asp996Asn | p.D996NLRG_524t1:c.2986G>A, NM_000553.4:c.2986G>A, XM_005273632.1:c.2905G>AVOUS08/07/2019
35WRNEx25NM_000553.4:c.3058C>Tp.Arg1020Cys | p.R1020CLRG_524t1:c.3058C>T, NM_000553.4:c.3058C>T, XM_005273632.1:c.2977C>TVOUS08/14/2019
36WRNEx25NM_000553.4:c.3091G>Cp.Val1031Leu | p.V1031LNM_000553.4:c.3091G>C, XM_005273632.1:c.3010G>CVOUS03/13/2015
37WRNEx25NM_000553.4:c.3098G>Tp.Arg1033Leu | p.R1033LLRG_524t1:c.3098G>T, NM_000553.4:c.3098G>T, XM_005273632.1:c.3017G>TVOUS07/28/2016
38WRNEx27NM_000553.4:c.3253G>Ap.Gly1085Ser | p.G1085SLRG_524t1:c.3253G>A, NM_000553.4:c.3253G>A, XM_005273632.1:c.3172G>AVOUS12/17/2019
39WRNEx28NM_000553.4:c.3383+5A>CLRG_524t1:c.3383+5A>C, NM_000553.4:c.3383+5A>C, XM_005273632.1:c.3302+5A>CVOUS11/17/2016
40WRNEx29NM_000553.4:c.3422C>Tp.Ser1141Leu | p.S1141LLRG_524t1:c.3422C>T, NM_000553.4:c.3422C>T, XM_005273632.1:c.3341C>TVOUS04/22/2016
41WRNEx29NM_000553.4:c.3453G>Ap.Glu1151= | p.E1151=LRG_524t1:c.3453G>A, NM_000553.4:c.3453G>A, XM_005273632.1:c.3372G>AVOUS03/24/2016
42WRNEx31NM_000553.4:c.3627T>Ap.Ala1209= | p.A1209=LRG_524t1:c.3627T>A, NM_000553.4:c.3627T>A, XM_005273632.1:c.3546T>ALikely benign11/07/2016 
43WRNEx32NM_000553.4:c.3785C>Gp.Thr1262Arg | p.T1262RLRG_524t1:c.3785C>G, NM_000553.4:c.3785C>G, XM_005273632.1:c.3704C>GBenign03/08/2017 
44WRNEx33NM_000553.4:c.3875C>Ap.Ser1292Tyr | p.S1292YLRG_524t1:c.3875C>A, NM_000553.4:c.3875C>A, XM_005273632.1:c.3794C>AVOUS02/26/2020
45WRNEx34NM_000553.4:c.4035G>Ap.Thr1345= | p.T1345=LRG_524t1:c.4035G>A, NM_000553.4:c.4035G>A, XM_005273632.1:c.3954G>AVOUS09/14/2016
46WRNEx34NM_000553.4:c.4099T>Cp.Cys1367Arg | p.C1367RNM_000553.4:c.4099T>C, XM_005273632.1:c.4018T>CBenign10/14/2014 
47WRNEx34NM_000553.4:c.4178delGp.Gly1393Alafs*29 | p.G1393AfsX29LRG_524t1:c.4178delG, NM_000553.4:c.4178delG, XM_005273632.1:c.4097delGLikely pathogenic08/22/2019 
48WRNEx35NM_000553.4:c.4216C>Tp.Arg1406* | p.R1406XLRG_524t1:c.4216C>T, NM_000553.4:c.4216C>T, XM_005273632.1:c.4135C>TBenign12/30/2014 
49WRNEx2NM_000553.5:c.95A>Gp.Lys32Arg | p.K32RLRG_524t1:c.95A>G, NM_000553.4:c.95A>G, XM_005273632.1:c.95A>GBenign08/11/2020 
50WRNEx3NM_000553.5:c.130C>Gp.Leu44Val | p.L44VLRG_524t1:c.130C>G, NM_000553.4:c.130C>G, XM_005273632.1:c.130C>GVOUS09/04/2020
51WRNEx5NM_000553.5:c.502_503delAAp.Lys168Alafs*10 | p.K168AfsX10LRG_524t1:c.502_503delAA, NM_000553.4:c.502_503delAA, XM_005273632.1:c.502_503delAAPathogenic09/18/2020 
52WRNEx9NM_000553.5:c.970A>Gp.Thr324Ala | p.T324ALRG_524t1:c.970A>G, NM_000553.4:c.970A>G, XM_005273632.1:c.970A>GLikely benign03/12/2021 
53WRNEx12NM_000553.5:c.1566T>Gp.Asp522Glu | p.D522ELRG_524t1:c.1566T>G, NM_000553.4:c.1566T>G, XM_005273632.1:c.1485T>GVOUS02/27/2020
54WRNEx20NM_000553.5:c.2371T>Gp.Cys791Gly | p.C791GLRG_524t1:c.2371T>G, NM_000553.4:c.2371T>G, XM_005273632.1:c.2290T>GVOUS05/05/2020
55WRNEx29NM_000553.5:c.3418T>Gp.Ser1140Ala | p.S1140ALRG_524t1:c.3418T>G, NM_000553.4:c.3418T>G, XM_005273632.1:c.3337T>GVOUS02/26/2021
56WRNEx29NM_000553.5:c.3427C>Gp.Pro1143Ala | p.P1143ALRG_524t1:c.3427C>G, NM_000553.4:c.3427C>G, XM_005273632.1:c.3346C>GVOUS04/02/2020
57WRNEx32NM_000553.5:c.3785C>Gp.Thr1262Arg | p.T1262RLRG_524t1:c.3785C>G, NM_000553.4:c.3785C>G, XM_005273632.1:c.3704C>GBenign11/02/2020 
58WRNEx33NM_000553.5:c.3900C>Ap.Pro1300= | p.P1300=LRG_524t1:c.3900C>A, NM_000553.4:c.3900C>A, XM_005273632.1:c.3819C>AVOUS04/13/2020

* 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.