Loading Data . . .

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  
1CHRNB2Ex1NM_000748.2:c.-4C>TVOUS07/19/2019
2CHRNB2Ex2NM_000748.2:c.150C>Tp.Thr50= | p.T50=NM_000748.2:c.150C>TVOUS08/07/2020
3CHRNB2Ex3NM_000748.2:c.255+7G>ANM_000748.2:c.255+7G>AVOUS11/12/2015
4CHRNB2Ex5NM_000748.2:c.547A>Tp.Ile183Phe | p.I183FNM_000748.2:c.547A>TVOUS04/23/2015
5CHRNB2Ex5NM_000748.2:c.598A>Tp.Ser200Cys | p.S200CNM_000748.2:c.598A>TVOUS06/19/2019
6CHRNB2Ex5NM_000748.2:c.844C>Tp.Leu282Phe | p.L282FNM_000748.2:c.844C>TVOUS09/06/2018
7CHRNB2Ex5NM_000748.2:c.1046T>Cp.Met349Thr | p.M349TNM_000748.2:c.1046T>CVOUS06/24/2014
8CHRNB2Ex5NM_000748.2:c.1157C>Gp.Ser386Cys | p.S386CNM_000748.2:c.1157C>GVOUS06/15/2020
9CHRNB2Ex5NM_000748.2:c.1191G>Cp.Gln397His | p.Q397HNM_000748.2:c.1191G>CLikely benign05/14/2015 
10CHRNB2Ex5NM_000748.2:c.1233G>Ap.Ala411= | p.A411=NM_000748.2:c.1233G>ABenign05/18/2017 
11CHRNB2Ex5NM_000748.2:c.1235G>Ap.Gly412Asp | p.G412DNM_000748.2:c.1235G>ALikely benign10/26/2018 
12CHRNB2Ex5NM_000748.2:c.1236C>Tp.Gly412= | p.G412=NM_000748.2:c.1236C>TVOUS04/09/2018
13CHRNB2Ex5NM_000748.2:c.1273C>Tp.Arg425Trp | p.R425WNM_000748.2:c.1273C>TVOUS07/23/2020
14CHRNB2Ex5NM_000748.2:c.1338+14G>TNM_000748.2:c.1338+14G>TBenign03/16/2016 
15CHRNB2Ex6NM_000748.2:c.1432T>Cp.Phe478Leu | p.F478LNM_000748.2:c.1432T>CLikely benign10/10/2014 
16CHRNB2Ex6NM_000748.2:c.1482A>Gp.Ser494= | p.S494=NM_000748.2:c.1482A>GLikely benign06/15/2018 
17CHRNB2Ex6NM_000748.2:c.1485C>Tp.Asp495= | p.D495=NM_000748.2:c.1485C>TVOUS05/07/2014

* 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.