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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  
1WHRNEx1NM_015404.3:c.33C>Gp.Ser11Arg | p.S11RNM_001083885.1:c.-2194C>G, NM_001083885.2:c.-2194C>G, NM_001173425.1:c.33C>G, NM_015404.2:c.33C>G, NM_015404.3:c.33C>G, XM_002342950.1:c.733G>C, XM_005251895.1:c.33C>G, XM_005251896.1:c.33C>G, XM_005251897.1:c.33C>GVOUS10/08/2015
2WHRNEx1NM_015404.3:c.117G>Ap.Val39= | p.V39=NM_001083885.1:c.-2110G>A, NM_001083885.2:c.-2110G>A, NM_001173425.1:c.117G>A, NM_015404.2:c.117G>A, NM_015404.3:c.117G>A, XM_002342950.1:c.673-24C>TBenign06/26/2014 
3WHRNEx1NM_015404.3:c.191C>Ap.Ala64Asp | p.A64DNM_001083885.1:c.-2036C>A, NM_001083885.2:c.-2036C>A, NM_001173425.1:c.191C>A, NM_015404.2:c.191C>A, NM_015404.3:c.191C>A, XM_002342950.1:c.672+5G>TVOUS08/16/2013
4WHRNEx1NM_015404.3:c.229A>Tp.Thr77Ser | p.T77SNM_001083885.1:c.-1998A>T, NM_001083885.2:c.-1998A>T, NM_001173425.1:c.229A>T, NM_015404.2:c.229A>T, NM_015404.3:c.229A>T, XM_002342950.1:c.639T>ABenign01/17/2014 
5WHRNEx1NM_015404.3:c.360C>Tp.Thr120= | p.T120=NM_001083885.1:c.-1867C>T, NM_001083885.2:c.-1867C>T, NM_001173425.1:c.360C>T, NM_015404.2:c.360C>T, NM_015404.3:c.360C>T, XM_002342950.1:c.508G>A, XM_005251895.1:c.360C>T, XM_005251896.1:c.360C>T, XM_005251897.1:c.360C>TVOUS09/06/2016
6WHRNEx1NM_015404.3:c.406G>Ap.Gly136Arg | p.G136RNM_001083885.1:c.-1821G>A, NM_001083885.2:c.-1821G>A, NM_001173425.1:c.406G>A, NM_015404.2:c.406G>A, NM_015404.3:c.406G>A, XM_002342950.1:c.462C>T, XM_005251895.1:c.406G>A, XM_005251896.1:c.406G>A, XM_005251897.1:c.406G>AVOUS01/03/2017
7WHRNEx2NM_015404.3:c.668G>Ap.Arg223His | p.R223HNM_001083885.1:c.-482G>A, NM_001083885.2:c.-482G>A, NM_001173425.1:c.668G>A, NM_015404.2:c.668G>A, NM_015404.3:c.668G>A, XM_005251895.1:c.668G>A, XM_005251896.1:c.668G>A, XM_005251897.1:c.668G>ABenign01/16/2015 
8WHRNEx2NM_015404.3:c.716C>Tp.Pro239Leu | p.P239LNM_001083885.1:c.-434C>T, NM_001083885.2:c.-434C>T, NM_001173425.1:c.716C>T, NM_015404.2:c.716C>T, NM_015404.3:c.716C>T, XM_005251895.1:c.716C>T, XM_005251896.1:c.716C>T, XM_005251897.1:c.716C>TVOUS08/16/2016
9WHRNEx2NM_015404.3:c.827A>Tp.Asp276Val | p.D276VNM_001083885.1:c.-323A>T, NM_001083885.2:c.-323A>T, NM_001173425.1:c.827A>T, NM_015404.2:c.827A>T, NM_015404.3:c.827A>T, XM_005251895.1:c.827A>T, XM_005251896.1:c.827A>T, XM_005251897.1:c.827A>TVOUS07/05/2016
10WHRNEx3NM_015404.3:c.933A>Cp.Pro311= | p.P311=NM_001083885.1:c.-217A>C, NM_001083885.2:c.-217A>C, NM_001173425.1:c.933A>C, NM_015404.2:c.933A>C, NM_015404.3:c.933A>C, XM_005251895.1:c.933A>C, XM_005251896.1:c.933A>C, XM_005251897.1:c.933A>C, XM_005251898.1:c.-188A>CBenign07/14/2016 
11WHRNEx4NM_015404.3:c.1049G>Ap.Arg350Gln | p.R350QNM_001083885.1:c.-101G>A, NM_001083885.2:c.-101G>A, NM_001173425.1:c.1049G>A, NM_015404.2:c.1049G>A, NM_015404.3:c.1049G>A, XM_005251895.1:c.1049G>A, XM_005251896.1:c.1049G>A, XM_005251897.1:c.964-18310G>A, XM_005251898.1:c.-157-1304G>AVOUS03/20/2018
12WHRNEx4NM_015404.3:c.1075G>Ap.Val359Ile | p.V359INM_001083885.1:c.-75G>A, NM_001083885.2:c.-75G>A, NM_001173425.1:c.1075G>A, NM_015404.2:c.1075G>A, NM_015404.3:c.1075G>A, XM_005251895.1:c.1075G>A, XM_005251896.1:c.1075G>A, XM_005251897.1:c.964-18284G>A, XM_005251898.1:c.-157-1278G>ALikely benign07/15/2016 
13WHRNEx6NM_015404.3:c.1318G>Ap.Ala440Thr | p.A440TNM_001083885.1:c.169G>A, NM_001083885.2:c.169G>A, NM_001173425.1:c.1318G>A, NM_015404.2:c.1318G>A, NM_015404.3:c.1318G>ABenign11/11/2013 
14WHRNEx6NM_015404.3:c.1353T>Cp.Gly451= | p.G451=NM_001083885.1:c.204T>C, NM_001083885.2:c.204T>C, NM_001173425.1:c.1353T>C, NM_015404.2:c.1353T>C, NM_015404.3:c.1353T>CBenign11/11/2013 
15WHRNEx6NM_015404.3:c.1365T>Cp.Ser455= | p.S455=NM_001083885.1:c.216T>C, NM_001083885.2:c.216T>C, NM_001173425.1:c.1365T>C, NM_015404.2:c.1365T>C, NM_015404.3:c.1365T>C, XM_005251898.1:c.42T>CVOUS01/30/2018
16WHRNEx7NM_015404.3:c.1417-8G>ANM_001083885.1:c.268-8G>A, NM_001083885.2:c.268-8G>A, NM_001173425.1:c.1417-8G>A, NM_015404.2:c.1417-8G>A, NM_015404.3:c.1417-8G>A, XM_005251895.1:c.1417-8G>A, XM_005251896.1:c.1416+803G>A, XM_005251897.1:c.964-15513G>A, XM_005251898.1:c.94-8G>AVOUS05/05/2017
17WHRNEx7NM_015404.3:c.1417-1G>ANM_001083885.1:c.268-1G>A, NM_001083885.2:c.268-1G>A, NM_001173425.1:c.1417-1G>A, NM_015404.2:c.1417-1G>A, NM_015404.3:c.1417-1G>A, XM_005251895.1:c.1417-1G>A, XM_005251896.1:c.1416+810G>A, XM_005251897.1:c.964-15506G>A, XM_005251898.1:c.94-1G>APathogenic08/19/2014 
18WHRNEx7NM_015404.3:c.1454C>Tp.Pro485Leu | p.P485LNM_001083885.1:c.305C>T, NM_001083885.2:c.305C>T, NM_001173425.1:c.1454C>T, NM_015404.2:c.1454C>T, NM_015404.3:c.1454C>T, XM_005251895.1:c.1454C>T, XM_005251896.1:c.1416+848C>T, XM_005251897.1:c.964-15468C>T, XM_005251898.1:c.131C>TBenign11/07/2014 
19WHRNEx7NM_015404.3:c.1455G>Ap.Pro485= | p.P485=NM_001083885.1:c.306G>A, NM_001083885.2:c.306G>A, NM_001173425.1:c.1455G>A, NM_015404.2:c.1455G>A, NM_015404.3:c.1455G>A, XM_005251895.1:c.1455G>A, XM_005251896.1:c.1416+849G>A, XM_005251897.1:c.964-15467G>A, XM_005251898.1:c.132G>AVOUS06/07/2016
20WHRNEx7NM_015404.3:c.1473C>Tp.Phe491= | p.F491=NM_001083885.1:c.324C>T, NM_001083885.2:c.324C>T, NM_001173425.1:c.1473C>T, NM_015404.2:c.1473C>T, NM_015404.3:c.1473C>T, XM_005251895.1:c.1473C>T, XM_005251896.1:c.1416+867C>T, XM_005251897.1:c.964-15449C>T, XM_005251898.1:c.150C>TVOUS08/10/2016
21WHRNEx7NM_015404.3:c.1608C>Gp.Thr536= | p.T536=NM_001083885.1:c.459C>G, NM_001083885.2:c.459C>G, NM_001173425.1:c.1608C>G, NM_015404.2:c.1608C>G, NM_015404.3:c.1608C>G, XM_005251895.1:c.1608C>G, XM_005251896.1:c.1416+1002C>G, XM_005251897.1:c.964-15314C>G, XM_005251898.1:c.285C>GBenign08/03/2016 
22WHRNEx8NM_015404.3:c.1627-12G>ANM_001083885.1:c.478-12G>A, NM_001083885.2:c.478-12G>A, NM_001173425.1:c.1627-12G>A, NM_015404.2:c.1627-12G>A, NM_015404.3:c.1627-12G>ABenign04/28/2014 
23WHRNEx8NM_015404.3:c.1627-5T>ANM_001083885.1:c.478-5T>A, NM_001083885.2:c.478-5T>A, NM_001173425.1:c.1627-5T>A, NM_015404.2:c.1627-5T>A, NM_015404.3:c.1627-5T>A, XM_005251898.1:c.304-5T>AVOUS04/21/2017
24WHRNEx8NM_015404.3:c.1632T>Cp.Thr544= | p.T544=NM_001083885.1:c.483T>C, NM_001083885.2:c.483T>C, NM_001173425.1:c.1632T>C, NM_015404.2:c.1632T>C, NM_015404.3:c.1632T>C, XM_005251895.1:c.1632T>C, XM_005251896.1:c.1422T>C, XM_005251897.1:c.969T>C, XM_005251898.1:c.309T>CVOUS01/03/2017
25WHRNEx9NM_015404.3:c.1757C>Tp.Pro586Leu | p.P586LNM_001083885.1:c.608C>T, NM_001083885.2:c.608C>T, NM_001173425.1:c.1757C>T, NM_015404.2:c.1757C>T, NM_015404.3:c.1757C>T, XM_005251895.1:c.1757C>T, XM_005251896.1:c.1547C>T, XM_005251897.1:c.1094C>T, XM_005251898.1:c.434C>TVOUS07/11/2018
26WHRNEx9NM_015404.3:c.1838T>Cp.Met613Thr | p.M613TNM_001083885.1:c.689T>C, NM_001083885.2:c.689T>C, NM_001173425.1:c.1838T>C, NM_015404.2:c.1838T>C, NM_015404.3:c.1838T>C, XM_005251898.1:c.515T>CBenign05/31/2016 
27WHRNEx9NM_015404.3:c.1850C>Tp.Ser617Leu | p.S617LNM_001083885.1:c.701C>T, NM_001083885.2:c.701C>T, NM_001173425.1:c.1850C>T, NM_015404.2:c.1850C>T, NM_015404.3:c.1850C>T, XM_005251895.1:c.1850C>T, XM_005251896.1:c.1640C>T, XM_005251897.1:c.1187C>T, XM_005251898.1:c.527C>TVOUS08/17/2018
28WHRNEx9NM_015404.3:c.1943C>Ap.Ser648Tyr | p.S648YNM_001083885.1:c.794C>A, NM_001083885.2:c.794C>A, NM_001173425.1:c.1943C>A, NM_015404.2:c.1943C>A, NM_015404.3:c.1943C>A, XM_005251895.1:c.1943C>A, XM_005251896.1:c.1733C>A, XM_005251897.1:c.1280C>A, XM_005251898.1:c.620C>AVOUS12/19/2014
29WHRNEx9NM_015404.3:c.1969G>Cp.Ala657Pro | p.A657PNM_001083885.1:c.820G>C, NM_001083885.2:c.820G>C, NM_001173425.1:c.1969G>C, NM_015404.2:c.1969G>C, NM_015404.3:c.1969G>C, XM_005251895.1:c.1969G>C, XM_005251896.1:c.1759G>C, XM_005251897.1:c.1306G>C, XM_005251898.1:c.646G>CVOUS02/24/2017
30WHRNEx9NM_015404.3:c.2060C>Tp.Pro687Leu | p.P687LNM_001083885.1:c.911C>T, NM_001083885.2:c.911C>T, NM_001173425.1:c.2060C>T, NM_015404.2:c.2060C>T, NM_015404.3:c.2060C>T, XM_005251895.1:c.2060C>T, XM_005251896.1:c.1850C>T, XM_005251897.1:c.1397C>T, XM_005251898.1:c.737C>TVOUS03/20/2018
31WHRNEx9NM_015404.3:c.2101G>Cp.Gly701Arg | p.G701RNM_001083885.1:c.952G>C, NM_001083885.2:c.952G>C, NM_001173425.1:c.2101G>C, NM_015404.2:c.2101G>C, NM_015404.3:c.2101G>C, XM_005251895.1:c.2101G>C, XM_005251896.1:c.1891G>C, XM_005251897.1:c.1438G>C, XM_005251898.1:c.778G>CVOUS03/21/2016
32WHRNEx9NM_015404.3:c.2112G>Tp.Leu704= | p.L704=NM_001083885.1:c.963G>T, NM_001083885.2:c.963G>T, NM_001173425.1:c.2112G>T, NM_015404.2:c.2112G>T, NM_015404.3:c.2112G>T, XM_005251895.1:c.2112G>T, XM_005251896.1:c.1902G>T, XM_005251897.1:c.1449G>T, XM_005251898.1:c.789G>TVOUS12/12/2014
33WHRNEx9NM_015404.3:c.2183G>Ap.Arg728His | p.R728HNM_001083885.1:c.1034G>A, NM_001083885.2:c.1034G>A, NM_001173425.1:c.2183G>A, NM_015404.2:c.2183G>A, NM_015404.3:c.2183G>A, XM_005251898.1:c.860G>AVOUS03/21/2016
34WHRNEx9NM_015404.3:c.2203G>Ap.Val735Ile | p.V735INM_001083885.1:c.1054G>A, NM_001083885.2:c.1054G>A, NM_001173425.1:c.2203G>A, NM_015404.2:c.2203G>A, NM_015404.3:c.2203G>A, XM_005251895.1:c.2203G>A, XM_005251896.1:c.1993G>A, XM_005251897.1:c.1540G>A, XM_005251898.1:c.880G>AVOUS01/16/2015
35WHRNEx10NM_015404.3:c.2237-10C>GNM_001083885.1:c.1088-10C>G, NM_001083885.2:c.1088-10C>G, NM_001173425.1:c.2237-13C>G, NM_015404.2:c.2237-10C>G, NM_015404.3:c.2237-10C>G, XM_005251895.1:c.2237-10C>G, XM_005251896.1:c.2027-10C>G, XM_005251897.1:c.1574-10C>G, XM_005251898.1:c.914-10C>GVOUS11/19/2014
36WHRNEx10NM_015404.3:c.2322C>Tp.Ser774= | p.S774=NM_001083885.1:c.1173C>T, NM_001083885.2:c.1173C>T, NM_001173425.1:c.2319C>T, NM_015404.2:c.2322C>T, NM_015404.3:c.2322C>T, XM_005251895.1:c.2322C>T, XM_005251896.1:c.2112C>T, XM_005251897.1:c.1659C>T, XM_005251898.1:c.999C>TVOUS02/28/2019
37WHRNEx11NM_015404.3:c.2419C>Gp.Pro807Ala | p.P807ANM_001083885.1:c.1270C>G, NM_001083885.2:c.1270C>G, NM_001173425.1:c.2416C>G, NM_015404.2:c.2419C>G, NM_015404.3:c.2419C>G, XM_005251895.1:c.2419C>G, XM_005251896.1:c.2209C>G, XM_005251897.1:c.1756C>G, XM_005251898.1:c.1096C>G, XM_005252244.1:c.-5175C>G, XM_005252245.1:c.-5067C>GVOUS07/25/2017
38WHRNEx11NM_015404.3:c.2510G>Ap.Arg837His | p.R837HNM_001083885.1:c.1361G>A, NM_001083885.2:c.1361G>A, NM_001173425.1:c.2507G>A, NM_015404.2:c.2510G>A, NM_015404.3:c.2510G>A, XM_005251895.1:c.2510G>A, XM_005251896.1:c.2300G>A, XM_005251897.1:c.1847G>A, XM_005251898.1:c.1187G>A, XM_005252244.1:c.-5084G>A, XM_005252245.1:c.-4976G>AVOUS10/04/2016
39WHRNEx12NM_015404.3:c.2586C>Ap.His862Gln | p.H862QNM_001083885.1:c.1437C>A, NM_001083885.2:c.1437C>A, NM_001173425.1:c.2583C>A, NM_015404.2:c.2586C>A, NM_015404.3:c.2586C>ABenign01/30/2014 
40WHRNEx12NM_015404.3:c.2644C>Ap.Arg882Ser | p.R882SNM_001083885.1:c.1495C>A, NM_001083885.2:c.1495C>A, NM_001173425.1:c.2641C>A, NM_015404.2:c.2644C>A, NM_015404.3:c.2644C>A, XM_005251895.1:c.2644C>A, XM_005251896.1:c.2434C>A, XM_005251897.1:c.1981C>A, XM_005251898.1:c.1321C>A, XM_005252244.1:c.-4670C>A, XM_005252245.1:c.-4562C>AVOUS12/19/2014

* 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.