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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  
1CYP1B1Ex2NM_000104.3:c.-13C>TNM_000104.3:c.-1-12C>T, XM_002342214.1:c.*85G>ABenign08/14/2013 
2CYP1B1Ex2NM_000104.3:c.45G>Tp.Pro15= | p.P15=NM_000104.3:c.45G>T, XM_002342214.1:c.*28C>AVOUS10/24/2014
3CYP1B1Ex2NM_000104.3:c.46C>Tp.Leu16= | p.L16=NM_000104.3:c.46C>T, XM_002342214.1:c.*27G>AVOUS05/24/2016
4CYP1B1Ex2NM_000104.3:c.141C>Gp.Leu47= | p.L47=NM_000104.3:c.141C>G, XM_002342214.1:c.1156G>CVOUS01/30/2017
5CYP1B1Ex2NM_000104.3:c.142C>Gp.Arg48Gly | p.R48GNM_000104.3:c.142C>G, XM_002342214.1:c.1155G>CBenign08/14/2013 
6CYP1B1Ex2NM_000104.3:c.155C>Tp.Pro52Leu | p.P52LNM_000104.3:c.155C>T, XM_002342214.1:c.1142G>AVOUS04/23/2019
7CYP1B1Ex2NM_000104.3:c.241T>Ap.Tyr81Asn | p.Y81NNM_000104.3:c.241T>A, XM_002342214.1:c.1056A>TBenign08/14/2013 
8CYP1B1Ex2NM_000104.3:c.349_350insCGGCp.Arg117Profs*108 | p.R117PfsX108NM_000104.3:c.349_350insCGGC, XM_002342214.1:c.947_948insGCCGPathogenic03/12/2019 
9CYP1B1Ex2NM_000104.3:c.355G>Tp.Ala119Ser | p.A119SNM_000104.3:c.355G>T, XM_002342214.1:c.942C>ABenign08/14/2013 
10CYP1B1Ex2NM_000104.3:c.415G>Ap.Glu139Lys | p.E139KNM_000104.3:c.415G>A, XM_002342214.1:c.882C>TVOUS01/12/2016
11CYP1B1Ex2NM_000104.3:c.564C>Ap.Gly188= | p.G188=NM_000104.3:c.564C>A, XM_002342214.1:c.733G>TBenign04/24/2014 
12CYP1B1Ex2NM_000104.3:c.685G>Ap.Glu229Lys | p.E229KNM_000104.3:c.685G>A, XM_002342214.1:c.612C>TOther Reportable08/11/2014 
13CYP1B1Ex2NM_000104.3:c.729G>Cp.Val243= | p.V243=NM_000104.3:c.729G>C, XM_002342214.1:c.568C>GBenign04/24/2014 
14CYP1B1Ex2NM_000104.3:c.868dupCp.Arg290Profs*37 | p.R290PfsX37NM_000104.3:c.868dupC, XM_002342214.1:c.429dupGPathogenic02/07/2018 
15CYP1B1Ex2NM_000104.3:c.958G>Tp.Val320Leu | p.V320LNM_000104.3:c.958G>T, XM_002342214.1:c.339C>AVOUS05/17/2016
16CYP1B1Ex3NM_000104.3:c.1064_1076delGAGTGCAGGCAGANM_000104.3:c.1064_1076delGAGTGCAGGCAGA, NM_144713.2:c.*4288_*4300delTCTGCCTGCACTC, NM_144713.3:c.*4288_*4300delTCTGCCTGCACTC, XM_002342214.1:c.212_224delTCTGCCTGCACTCPathogenic08/31/2015 
17CYP1B1Ex3NM_000104.3:c.1103G>Ap.Arg368His | p.R368HNM_000104.3:c.1103G>A, NM_144713.2:c.*4261C>T, NM_144713.3:c.*4261C>T, XM_002342214.1:c.185C>TOther Reportable01/10/2020 
18CYP1B1Ex3NM_000104.3:c.1159G>Ap.Glu387Lys | p.E387KNM_000104.3:c.1159G>A, NM_144713.2:c.*4205C>T, NM_144713.3:c.*4205C>T, XM_002342214.1:c.129C>TPathogenic08/02/2018 
19CYP1B1Ex3NM_000104.3:c.1169G>Ap.Arg390His | p.R390HNM_000104.3:c.1169G>A, NM_144713.2:c.*4195C>T, NM_144713.3:c.*4195C>T, XM_002342214.1:c.119C>TPathogenic08/03/2018 
20CYP1B1Ex3NM_000104.3:c.1200_1209dupTCATGCCACCp.Thr404Serfs*30 | p.T404SfsX30NM_000104.3:c.1200_1209dupTCATGCCACC, NM_000104.3:c.1209_1210insTCATGCCACC, NM_144713.2:c.*4154_*4155insGGTGGCATGA, NM_144713.2:c.*4155_*4164dupGGTGGCATGA, NM_144713.3:c.*4154_*4155insGGTGGCATGA, NM_144713.3:c.*4155_*4164dupGGTGGCATGA, XM_002342214.1:c.78_79insGGTGGCATGA, XM_002342214.1:c.79_88dupGGTGGCATGAPathogenic01/15/2016 
21CYP1B1Ex3NM_000104.3:c.1290C>Gp.Asp430Glu | p.D430ENM_000104.3:c.1290C>G, NM_144713.2:c.*4074G>C, NM_144713.3:c.*4074G>C, XM_002342214.1:c.-3G>CVOUS06/09/2014
22CYP1B1Ex3NM_000104.3:c.1294G>Cp.Val432Leu | p.V432LNM_000104.3:c.1294G>C, NM_144713.2:c.*4070C>G, NM_144713.3:c.*4070C>G, XM_002342214.1:c.-7C>GBenign11/05/2013 
23CYP1B1Ex3NM_000104.3:c.1328C>Gp.Ala443Gly | p.A443GNM_000104.3:c.1328C>G, NM_144713.2:c.*4036G>C, NM_144713.3:c.*4036G>C, XM_002342214.1:c.-41G>CBenign08/02/2013 
24CYP1B1Ex3NM_000104.3:c.1347T>Cp.Asp449= | p.D449=NM_000104.3:c.1347T>C, NM_144713.2:c.*4017A>G, NM_144713.3:c.*4017A>G, XM_002342214.1:c.-60A>GBenign11/05/2013 
25CYP1B1Ex3NM_000104.3:c.1358A>Gp.Asn453Ser | p.N453SBenign03/03/2014 
26CYP1B1Ex3NM_000104.3:c.1590T>Cp.Asp530= | p.D530=NM_000104.3:c.1590T>C, NM_144713.2:c.*3774A>G, NM_144713.3:c.*3774A>G, XM_002342214.1:c.-303A>GVOUS03/30/2017

* 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.