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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  
1CYP4V2Ex1NM_207352.3:c.64C>Gp.Leu22Val | p.L22VNM_207352.3:c.64C>G, NR_046264.1:n.-397G>C, XR_078304.1:n.235G>CBenign07/25/2013 
2CYP4V2Ex1NM_207352.3:c.99G>Ap.Leu33= | p.L33=NM_207352.3:c.99G>A, NR_046264.1:n.-432C>T, XM_005262935.1:c.99G>A, XR_078304.1:n.200C>TLikely benign03/15/2019 
3CYP4V2Ex1NM_207352.3:c.169T>Cp.Tyr57His | p.Y57HNM_207352.3:c.169T>C, NR_046264.1:n.-502A>G, XR_078304.1:n.130A>GVOUS07/25/2013
4CYP4V2Ex2NM_207352.3:c.221_222delTTp.Phe74Serfs*5 | p.F74SfsX5NM_207352.3:c.221_222delTT, NR_046264.1:n.-3017_-3016delAA, XM_005262935.1:c.221_222delTT, XR_078304.1:n.-2386_-2385delAAPathogenic03/08/2018 
5CYP4V2Ex2NM_207352.3:c.327+11G>CNM_207352.3:c.327+11G>C, NR_046264.1:n.-3133C>G, XM_005262935.1:c.327+11G>C, XR_078304.1:n.-2502C>GBenign03/12/2018 
6CYP4V2Ex3NM_207352.3:c.332T>Cp.Ile111Thr | p.I111TNM_207352.3:c.332T>C, NR_046264.1:n.-4517A>G, XM_005262935.1:c.332T>C, XR_078304.1:n.-3886A>GPathogenic02/28/2020 
7CYP4V2Ex4NM_207352.3:c.541A>Gp.Ile181Val | p.I181VNM_207352.3:c.541A>G, XM_005262935.1:c.541A>G, XR_078304.1:n.-4946T>CVOUS11/07/2015
9CYP4V2Ex7NM_207352.3:c.802-7C>TNM_207352.3:c.802-7C>T, XM_005262935.1:c.802-7C>TBenign03/17/2014 
10CYP4V2Ex7NM_207352.3:c.810T>Gp.Ala270= | p.A270=NM_207352.3:c.810T>G, XM_005262935.1:c.810T>GBenign03/17/2014 
11CYP4V2Ex7NM_207352.3:c.846T>Cp.Cys282= | p.C282=NM_207352.3:c.846T>CBenign04/28/2014 
12CYP4V2Ex9NM_207352.3:c.1198C>Tp.Arg400Cys | p.R400CNM_207352.3:c.1198C>T, XM_005262935.1:c.1198C>TVOUS06/21/2016
13CYP4V2Ex10NM_207352.3:c.1328G>Ap.Arg443Gln | p.R443QNM_207352.3:c.1328G>A, XM_005262935.1:c.1325G>ABenign09/29/2016 
14CYP4V2Ex10NM_207352.3:c.1393A>Gp.Arg465Gly | p.R465GNM_207352.3:c.1393A>GPathogenic04/11/2014 
16CYP4V2Ex11NM_207352.3:c.1446G>Ap.Ser482= | p.S482=NM_207352.3:c.1446G>A, XM_005262935.1:c.1443G>ABenign02/25/2015 
17CYP4V2Ex11NM_207352.3:c.1479C>Tp.Asn493= | p.N493=NM_207352.3:c.1479C>TVOUS01/09/2014

* 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


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.



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.