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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  
1CNGB3Ex4NM_019098.4:c.474C>Tp.Pro158= | p.P158=NM_019098.3:c.474C>T, NM_019098.4:c.474C>TVOUS12/30/2015
2CNGB3Ex5NM_019098.4:c.539C>Tp.Pro180Leu | p.P180LNM_019098.3:c.539C>T, NM_019098.4:c.539C>TVOUS11/07/2014
3CNGB3Ex6NM_019098.4:c.670C>Tp.Leu224Phe | p.L224FNM_019098.3:c.670C>T, NM_019098.4:c.670C>TVOUS10/20/2015
4CNGB3Ex6NM_019098.4:c.767C>Ap.Ala256Glu | p.A256ENM_019098.3:c.767C>A, NM_019098.4:c.767C>AVOUS02/17/2017
5CNGB3Ex6NM_019098.4:c.819_826delCAGACTCCp.Arg274Valfs*13 | p.R274VfsX13NM_019098.3:c.819_826delCAGACTCC, NM_019098.4:c.819_826delCAGACTCCPathogenic02/20/2017 
6CNGB3Ex6NM_019098.4:c.843A>Gp.Gly281= | p.G281=NM_019098.3:c.843A>G, NM_019098.4:c.843A>GVOUS01/30/2017
7CNGB3Ex7NM_019098.4:c.892A>Cp.Thr298Pro | p.T298PNM_019098.3:c.892A>C, NM_019098.4:c.892A>CBenign04/29/2014 
8CNGB3Ex8NM_019098.4:c.912C>Tp.Val304= | p.V304=NM_019098.3:c.912C>T, NM_019098.4:c.912C>TLikely benign06/10/2016 
9CNGB3Ex10NM_019098.4:c.1148delCp.Thr383Ilefs*13 | p.T383IfsX13NM_019098.3:c.1148delC, NM_019098.4:c.1148delCPathogenic01/07/2020 
10CNGB3Ex11NM_019098.4:c.1198T>Cp.Trp400Arg | p.W400RNM_019098.3:c.1198T>C, NM_019098.4:c.1198T>CVOUS12/09/2016
11CNGB3Ex11NM_019098.4:c.1208G>Ap.Arg403Gln | p.R403QNM_019098.3:c.1208G>A, NM_019098.4:c.1208G>ALikely benign04/22/2015 
12CNGB3Ex11NM_019098.4:c.1255G>Tp.Glu419* | p.E419XNM_019098.3:c.1255G>T, NM_019098.4:c.1255G>TPathogenic11/15/2016 
13CNGB3Ex12NM_019098.4:c.1405T>Gp.Tyr469Asp | p.Y469DNM_019098.3:c.1405T>G, NM_019098.4:c.1405T>GLikely benign02/22/2016 
14CNGB3Ex12NM_019098.4:c.1433G>Ap.Arg478Gln | p.R478QNM_019098.3:c.1433G>A, NM_019098.4:c.1433G>AVOUS08/28/2015
15CNGB3Ex12NM_019098.4:c.1439G>Ap.Arg480Gln | p.R480QNM_019098.3:c.1439G>A, NM_019098.4:c.1439G>ALikely benign03/30/2018 
16CNGB3Ex13NM_019098.4:c.1510A>Gp.Thr504Ala | p.T504ANM_019098.3:c.1510A>G, NM_019098.4:c.1510A>GVOUS09/21/2016
17CNGB3Ex13NM_019098.4:c.1578+1G>ANM_019098.3:c.1578+1G>A, NM_019098.4:c.1578+1G>APathogenic10/17/2014 
18CNGB3Ex14NM_019098.4:c.1607T>Cp.Met536Thr | p.M536TNM_019098.3:c.1607T>C, NM_019098.4:c.1607T>CVOUS04/24/2015
19CNGB3Ex15NM_019098.4:c.1688T>Cp.Ile563Thr | p.I563TNM_019098.3:c.1688T>C, NM_019098.4:c.1688T>CVOUS05/07/2014
20CNGB3Ex16NM_019098.4:c.1833C>Tp.His611= | p.H611=NM_019098.3:c.1833C>T, NM_019098.4:c.1833C>TVOUS10/20/2015
21CNGB3Ex16NM_019098.4:c.1898A>Gp.Asp633Gly | p.D633GNM_019098.3:c.1898A>G, NM_019098.4:c.1898A>GVOUS03/20/2018
22CNGB3Ex17NM_019098.4:c.2007A>Gp.Lys669= | p.K669=NM_019098.3:c.2007A>G, NM_019098.4:c.2007A>GVOUS07/28/2015
23CNGB3Ex18NM_019098.4:c.2214A>Gp.Glu738= | p.E738=NM_019098.3:c.2214A>G, NM_019098.4:c.2214A>GBenign04/25/2014 
24CNGB3Ex18NM_019098.4:c.2264A>Gp.Glu755Gly | p.E755GNM_019098.3:c.2264A>G, NM_019098.4:c.2264A>GBenign04/25/2014 
25CNGB3Ex18NM_019098.4:c.2415A>Cp.Glu805Asp | p.E805DNM_019098.3:c.2415A>C, NM_019098.4:c.2415A>CBenign11/29/2016 

* 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 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.