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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  
1METEx1NM_001127500.1:c.-14-4G>ALRG_662t1:c.-14-4G>A, NM_000245.2:c.-14-4G>A, NM_001127500.1:c.-14-4G>A, XM_005250353.1:c.44-4G>ABenign06/02/2017 
2METEx2NM_001127500.1:c.-27C>TNM_000245.2:c.-14-13C>T, NM_001127500.1:c.-14-13C>TBenign** 
3METEx2NM_001127500.1:c.144G>Ap.Ala48= | p.A48=Benign11/06/2012 
4METEx2NM_001127500.1:c.147A>Gp.Glu49= | p.E49=NM_000245.2:c.147A>G, NM_001127500.1:c.147A>GVOUS11/07/2013
5METEx2NM_001127500.1:c.289C>Gp.Pro97Ala | p.P97AVOUS12/11/2012
6METEx2NM_001127500.1:c.390C>Tp.Leu130= | p.L130=Benign02/18/2013 
7METEx2NM_001127500.1:c.504G>Tp.Glu168Asp | p.E168DNM_000245.2:c.504G>T, NM_001127500.1:c.504G>TBenign03/01/2013 
8METEx2NM_001127500.1:c.534C>Tp.Ser178= | p.S178=NM_000245.2:c.534C>T, NM_001127500.1:c.534C>TBenign10/09/2012 
9METEx2NM_001127500.1:c.654G>Ap.Arg218= | p.R218=Benign09/26/2012 
10METEx2NM_001127500.1:c.901A>Gp.Thr301Ala | p.T301ANM_000245.2:c.901A>G, NM_001127500.1:c.901A>GVOUS01/15/2014
11METEx2NM_001127500.1:c.948A>Gp.Ile316Met | p.I316MBenign12/06/2012 
12METEx2NM_001127500.1:c.1019A>Gp.Asp340Gly | p.D340GNM_000245.2:c.1019A>G, NM_001127500.1:c.1019A>GVOUS04/24/2013
13METEx2NM_001127500.1:c.1076G>Ap.Arg359Gln | p.R359QNM_000245.2:c.1076G>A, NM_001127500.1:c.1076G>AVOUS10/01/2013
14METEx2NM_001127500.1:c.1085T>Cp.Met362Thr | p.M362TBenign02/18/2013 
15METEx2NM_001127500.1:c.1124A>Gp.Asn375Ser | p.N375SNM_000245.2:c.1124A>G, NM_001127500.1:c.1124A>GBenign10/15/2013 
16METEx2NM_001127500.1:c.1131C>Tp.Ile377= | p.I377=Benign09/26/2012 
17METEx4NM_001127500.1:c.1406G>Ap.Arg469Gln | p.R469QLRG_662t1:c.1406G>A, NM_000245.2:c.1406G>A, NM_001127500.1:c.1406G>A, XM_005250353.1:c.1463G>A, XM_005250354.1:c.116G>AVOUS04/10/2018
18METEx5NM_001127500.1:c.1701+25A>GBenign** 
19METEx7NM_001127500.1:c.1932C>Tp.His644= | p.H644=NM_000245.2:c.1932C>T, NM_001127500.1:c.1932C>T, XM_005250353.1:c.1989C>T, XM_005250354.1:c.642C>TVOUS05/13/2015
20METEx7NM_001127500.1:c.1944A>Gp.Gln648= | p.Q648=NM_000245.2:c.1944A>G, NM_001127500.1:c.1944A>GBenign07/12/2013 
21METEx8NM_001127500.1:c.1988C>Tp.Ser663Leu | p.S663LLRG_662t1:c.1988C>T, NM_000245.2:c.1988C>T, NM_001127500.1:c.1988C>T, XM_005250353.1:c.2045C>T, XM_005250354.1:c.698C>TVOUS03/31/2017
22METEx10NM_001127500.1:c.2265-4dupALRG_662t1:c.2265-4dupA, NM_000245.2:c.2265-58dupA, NM_001127500.1:c.2265-4dupA, XM_005250353.1:c.2322-4dupA, XM_005250354.1:c.975-58dupAVOUS03/09/2018
23METEx11NM_001127500.1:c.2488C>Gp.Gln830Glu | p.Q830ENM_000245.2:c.2434C>G, NM_001127500.1:c.2488C>GVOUS03/14/2013
24METEx12NM_001127500.1:c.2638-7delCNM_000245.2:c.2584-7delC, NM_001127500.1:c.2638-7delC, XM_005250353.1:c.2695-7delC, XM_005250354.1:c.1294-7delCVOUS10/28/2014
25METEx12NM_001127500.1:c.2716C>Tp.His906Tyr | p.H906YLRG_662t1:c.2716C>T, NM_000245.2:c.2662C>T, NM_001127500.1:c.2716C>T, XM_005250353.1:c.2773C>T, XM_005250354.1:c.1372C>TLikely benign03/13/2018 
26METEx14NM_001127500.1:c.2942-36G>ABenign** 
27METEx14NM_001127500.1:c.2962C>Tp.Arg988Cys | p.R988CNM_000245.2:c.2908C>T, NM_001127500.1:c.2962C>TVOUS02/18/2015
28METEx14NM_001127500.1:c.3029C>Tp.Thr1010Ile | p.T1010ILRG_662t1:c.3029C>T, NM_000245.2:c.2975C>T, NM_001127500.1:c.3029C>T, XM_005250353.1:c.3086C>TBenign03/26/2018 
29METEx15NM_001127500.1:c.3271C>Tp.Pro1091Ser | p.P1091SNM_000245.2:c.3217C>T, NM_001127500.1:c.3271C>TVOUS04/30/2013
30METEx15NM_001127500.1:c.3272C>Tp.Pro1091Leu | p.P1091LVOUS**
31METEx16NM_001127500.1:c.3335A>Gp.His1112Arg | p.H1112RLRG_662t1:c.3335A>G, NM_000245.2:c.3281A>G, NM_001127500.1:c.3335A>G, XM_005250353.1:c.3392A>GPathogenic10/15/2013 
32METEx18NM_001127500.1:c.3667T>Gp.Leu1223Val | p.L1223VNM_000245.2:c.3613T>G, NM_001127500.1:c.3667T>G, XM_005250353.1:c.3724T>G, XM_005250354.1:c.2323T>GVOUS07/28/2015
33METEx19NM_001127500.1:c.3742T>Cp.Tyr1248His | p.Y1248HNM_000245.2:c.3688T>C, NM_001127500.1:c.3742T>C, XM_005250353.1:c.3799T>C, XM_005250354.1:c.2398T>CVOUS09/22/2014
34METEx20NM_001127500.1:c.3862G>Ap.Gly1288Ser | p.G1288SVOUS03/03/2014
35METEx20NM_001127500.1:c.3912C>Tp.Asp1304= | p.D1304=NM_000245.2:c.3858C>T, NM_001127500.1:c.3912C>TBenign07/30/2014 
36METEx21NM_001127500.1:c.4071G>Ap.Ala1357= | p.A1357=NM_000245.2:c.4017G>A, NM_001127500.1:c.4071G>ABenign07/30/2014 
37METEx21NM_001127500.1:c.4146G>Ap.Pro1382= | p.P1382=NM_000245.2:c.4092G>A, NM_001127500.1:c.4146G>ABenign07/30/2014 
38METEx21NM_001127500.1:c.4171G>Cp.Asp1391His | p.D1391HNM_000245.2:c.4117G>C, NM_001127500.1:c.4171G>C, XM_005250353.1:c.4228G>C, XM_005250354.1:c.2827G>CVOUS03/16/2015
39METEx2NM_001127500.2:c.959C>Tp.Ala320Val | p.A320VLRG_662t1:c.959C>T, NM_000245.2:c.959C>T, NM_001127500.1:c.959C>T, XM_005250353.1:c.1016C>TVOUS04/24/2019

* 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.