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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  
1KCNJ10Ex2NM_002241.4:c.21G>Tp.Val7= | p.V7=NM_002241.3:c.21G>T, NM_002241.4:c.21G>T, XM_002342164.1:c.*37C>AVOUS09/28/2015
2KCNJ10Ex2NM_002241.4:c.52C>Tp.Arg18Trp | p.R18WNM_002241.3:c.52C>T, NM_002241.4:c.52C>T, XM_002342164.1:c.*6G>AVOUS10/25/2019
3KCNJ10Ex2NM_002241.4:c.53G>Ap.Arg18Gln | p.R18QNM_002241.3:c.53G>A, NM_002241.4:c.53G>A, XM_002342164.1:c.*5C>TBenign03/18/2014 
4KCNJ10Ex2NM_002241.4:c.124G>Ap.Glu42Lys | p.E42KNM_002241.3:c.124G>A, NM_002241.4:c.124G>A, XM_002342164.1:c.429C>TVOUS03/13/2015
5KCNJ10Ex2NM_002241.4:c.136G>Ap.Asp46Asn | p.D46NNM_002241.3:c.136G>A, NM_002241.4:c.136G>A, XM_002342164.1:c.417C>TVOUS07/14/2020
6KCNJ10Ex2NM_002241.4:c.148C>Tp.Leu50Phe | p.L50FNM_002241.3:c.148C>T, NM_002241.4:c.148C>T, XM_002342164.1:c.405G>AVOUS08/12/2015
7KCNJ10Ex2NM_002241.4:c.219G>Ap.Ala73= | p.A73=NM_002241.3:c.219G>A, NM_002241.4:c.219G>A, XM_002342164.1:c.334C>TVOUS02/22/2017
8KCNJ10Ex2NM_002241.4:c.300C>Tp.Asp100= | p.D100=VOUS12/30/2019
9KCNJ10Ex2NM_002241.4:c.336G>Ap.Val112= | p.V112=NM_002241.3:c.336G>A, NM_002241.4:c.336G>A, XM_002342164.1:c.217C>TVOUS02/01/2017
10KCNJ10Ex2NM_002241.4:c.394G>Ap.Gly132Ser | p.G132SNM_002241.3:c.394G>A, NM_002241.4:c.394G>A, XM_002342164.1:c.159C>TVOUS02/14/2015
11KCNJ10Ex2NM_002241.4:c.435G>Tp.Val145= | p.V145=NM_002241.3:c.435G>T, NM_002241.4:c.435G>T, XM_002342164.1:c.118C>AVOUS12/04/2015
12KCNJ10Ex2NM_002241.4:c.530A>Gp.Glu177Gly | p.E177GNM_002241.3:c.530A>G, NM_002241.4:c.530A>G, XM_002342164.1:c.23T>CVOUS11/10/2014
13KCNJ10Ex2NM_002241.4:c.615A>Gp.Lys205= | p.K205=NM_002241.3:c.615A>G, NM_002241.4:c.615A>G, XM_002342164.1:c.-63T>CVOUS01/19/2021
14KCNJ10Ex2NM_002241.4:c.688C>Tp.Arg230Trp | p.R230WNM_002241.3:c.688C>T, NM_002241.4:c.688C>T, XM_002342164.1:c.-136G>AVOUS09/15/2016
15KCNJ10Ex2NM_002241.4:c.735C>Gp.Asp245Glu | p.D245ENM_002241.3:c.735C>G, NM_002241.4:c.735C>G, XM_002342164.1:c.-183G>CVOUS01/19/2021
16KCNJ10Ex2NM_002241.4:c.811C>Tp.Arg271Cys | p.R271CNM_002241.3:c.811C>T, NM_002241.4:c.811C>T, XM_002342164.1:c.-259G>ABenign07/15/2014 
17KCNJ10Ex2NM_002241.4:c.994C>Gp.Gln332Glu | p.Q332ENM_002241.3:c.994C>G, NM_002241.4:c.994C>G, XM_002342164.1:c.-442G>CVOUS08/03/2016
18KCNJ10Ex2NM_002241.4:c.1042C>Tp.Arg348Cys | p.R348CNM_002241.3:c.1042C>T, NM_002241.4:c.1042C>T, XM_002342164.1:c.-490G>AVOUS03/24/2016
19KCNJ10Ex2NM_002241.4:c.1043G>Ap.Arg348His | p.R348HNM_002241.3:c.1043G>A, NM_002241.4:c.1043G>A, XM_002342164.1:c.-491C>TVOUS01/13/2017
20KCNJ10Ex2NM_002241.4:c.1061A>Gp.Lys354Arg | p.K354RNM_002241.3:c.1061A>G, NM_002241.4:c.1061A>G, XM_002342164.1:c.-509T>CVOUS11/16/2015
21KCNJ10Ex2NM_002241.4:c.1092A>Gp.Gln364= | p.Q364=NM_002241.3:c.1092A>G, NM_002241.4:c.1092A>G, XM_002342164.1:c.-540T>CBenign08/28/2015 
22KCNJ10Ex2NM_002241.4:c.1123C>Tp.Arg375Cys | p.R375CNM_002241.3:c.1123C>T, NM_002241.4:c.1123C>T, XM_002342164.1:c.-571G>AVOUS07/12/2018

* 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.