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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  
1CHATEx2NM_001142933.1:c.19G>Ap.Gly7Asn | p.G7NNM_001142929.1:c.-68-431G>A, NM_001142933.1:c.19G>A, NM_001142934.1:c.-90G>A, NM_003055.2:c.*3732G>A, NM_020549.4:c.287-431G>A, NM_020984.3:c.-68-431G>A, NM_020985.3:c.-68-431G>A, NM_020986.3:c.-68-431G>ABenign01/14/2021 
2CHATEx1NM_020549.4:c.-10T>GNM_001142929.1:c.-364T>G, NM_001142933.1:c.-326T>G, NM_001142934.1:c.-434T>G, NM_003055.2:c.*1841T>G, NM_020549.4:c.-10T>G, NM_020984.3:c.-68-2322T>G, NM_020985.3:c.-240-124T>G, NM_020986.3:c.-69+978T>GBenign05/15/2018 
3CHATEx1NM_020549.4:c.-17G>ANM_001142929.1:c.-371G>A, NM_001142933.1:c.-333G>A, NM_001142934.1:c.-441G>A, NM_003055.2:c.*1834G>A, NM_020549.4:c.-17G>A, NM_020984.3:c.-68-2329G>A, NM_020985.3:c.-240-131G>A, NM_020986.3:c.-69+971G>ABenign11/23/2015 
4CHATEx1NM_020549.4:c.59_60delAGp.Glu20Glyfs*60 | p.E20GfsX60NM_001142929.1:c.-296_-295delAG, NM_001142933.1:c.-258_-257delAG, NM_001142934.1:c.-366_-365delAG, NM_003055.2:c.*1909_*1910delAG, NM_020549.4:c.59_60delAG, NM_020984.3:c.-68-2254_-68-2253delAG, NM_020985.3:c.-240-56_-240-55delAG, NM_020986.3:c.-69+1046_-69+1047delAGVOUS05/16/2018
5CHATEx1NM_020549.4:c.85A>Tp.Arg29* | p.R29XNM_001142929.1:c.-270A>T, NM_001142933.1:c.-232A>T, NM_001142934.1:c.-340A>T, NM_003055.2:c.*1935A>T, NM_020549.4:c.85A>T, NM_020984.3:c.-68-2228A>T, NM_020985.3:c.-240-30A>T, NM_020986.3:c.-69+1072A>TPathogenic03/31/2016 
6CHATEx1NM_020549.4:c.127G>Ap.Gly43Arg | p.G43RNM_001142929.1:c.-228G>A, NM_001142933.1:c.-190G>A, NM_001142934.1:c.-298G>A, NM_003055.2:c.*1977G>A, NM_020549.4:c.127G>A, NM_020984.3:c.-68-2186G>A, NM_020985.3:c.-228G>A, NM_020986.3:c.-69+1114G>AVOUS11/30/2016
7CHATEx1NM_020549.4:c.141C>Gp.Asp47Glu | p.D47ENM_001142929.1:c.-214C>G, NM_001142933.1:c.-176C>G, NM_001142934.1:c.-284C>G, NM_003055.2:c.*1991C>G, NM_020549.4:c.141C>G, NM_020984.3:c.-68-2172C>G, NM_020985.3:c.-214C>G, NM_020986.3:c.-69+1128C>GBenign12/09/2014 
8CHATEx1NM_020549.4:c.284C>Ap.Ala95Glu | p.A95ENM_001142929.1:c.-71C>A, NM_001142933.1:c.-33C>A, NM_001142934.1:c.-141C>A, NM_003055.2:c.*2134C>A, NM_020549.4:c.284C>A, NM_020984.3:c.-68-2029C>A, NM_020985.3:c.-71C>A, NM_020986.3:c.-69+1271C>AVOUS06/26/2018
9CHATEx2NM_020549.4:c.327G>Ap.Thr109= | p.T109=NM_001142929.1:c.-28G>A, NM_001142933.1:c.81G>A, NM_001142934.1:c.-28G>A, NM_003055.2:c.*4203G>A, NM_020549.4:c.327G>A, NM_020984.3:c.-28G>A, NM_020985.3:c.-28G>A, NM_020986.3:c.-28G>ALikely benign04/17/2017 
10CHATEx2NM_020549.4:c.358G>Ap.Ala120Thr | p.A120TNM_001142929.1:c.4G>A, NM_001142933.1:c.112G>A, NM_001142934.1:c.4G>A, NM_003055.2:c.*4234G>A, NM_020549.4:c.358G>A, NM_020984.3:c.4G>A, NM_020985.3:c.4G>A, NM_020986.3:c.4G>ABenign08/04/2016 
11CHATEx3NM_020549.4:c.406G>Ap.Val136Met | p.V136MNM_001142929.1:c.52G>A, NM_001142933.1:c.160G>A, NM_001142934.1:c.52G>A, NM_020549.4:c.406G>A, NM_020984.3:c.52G>A, NM_020985.3:c.52G>A, NM_020986.3:c.52G>AVOUS12/21/2015
12CHATEx3NM_020549.4:c.418C>Tp.Gln140* | p.Q140XNM_001142929.1:c.64C>T, NM_001142933.1:c.172C>T, NM_001142934.1:c.64C>T, NM_020549.4:c.418C>T, NM_020984.3:c.64C>T, NM_020985.3:c.64C>T, NM_020986.3:c.64C>TPathogenic03/31/2015 
13CHATEx3NM_020549.4:c.438C>Tp.Tyr146= | p.Y146=NM_001142929.1:c.84C>T, NM_001142933.1:c.192C>T, NM_001142934.1:c.84C>T, NM_020549.4:c.438C>T, NM_020984.3:c.84C>T, NM_020985.3:c.84C>T, NM_020986.3:c.84C>TLikely benign05/02/2018 
14CHATEx4NM_020549.4:c.605T>Gp.Met202Arg | p.M202RNM_001142929.1:c.251T>G, NM_001142933.1:c.359T>G, NM_001142934.1:c.251T>G, NM_020549.4:c.605T>G, NM_020984.3:c.251T>G, NM_020985.3:c.251T>G, NM_020986.3:c.251T>GVOUS01/09/2020
15CHATEx4NM_020549.4:c.620G>Ap.Arg207His | p.R207HNM_001142929.1:c.266G>A, NM_001142933.1:c.374G>A, NM_001142934.1:c.266G>A, NM_020549.4:c.620G>A, NM_020984.3:c.266G>A, NM_020985.3:c.266G>A, NM_020986.3:c.266G>APathogenic12/27/2018 
16CHATEx6NM_020549.4:c.836_838delCCTNM_001142929.1:c.482_484delCCT, NM_001142933.1:c.590_592delCCT, NM_001142934.1:c.482_484delCCT, NM_020549.4:c.836_838delCCT, NM_020984.3:c.482_484delCCT, NM_020985.3:c.482_484delCCT, NM_020986.3:c.482_484delCCTVOUS10/10/2016
17CHATEx6NM_020549.4:c.867G>Ap.Thr289= | p.T289=NM_001142929.1:c.513G>A, NM_001142933.1:c.621G>A, NM_001142934.1:c.513G>A, NM_020549.4:c.867G>A, NM_020984.3:c.513G>A, NM_020985.3:c.513G>A, NM_020986.3:c.513G>AVOUS04/20/2015
18CHATEx6NM_020549.4:c.909C>Tp.His303= | p.H303=NM_001142929.1:c.555C>T, NM_001142933.1:c.663C>T, NM_001142934.1:c.555C>T, NM_020549.4:c.909C>T, NM_020984.3:c.555C>T, NM_020985.3:c.555C>T, NM_020986.3:c.555C>TVOUS10/21/2016
19CHATEx7NM_020549.4:c.1087G>Ap.Glu363Lys | p.E363KNM_001142929.1:c.733G>A, NM_001142933.1:c.841G>A, NM_001142934.1:c.733G>A, NM_020549.4:c.1087G>A, NM_020984.3:c.733G>A, NM_020985.3:c.733G>A, NM_020986.3:c.733G>AVOUS11/18/2017
20CHATEx8NM_020549.4:c.1135G>Cp.Asp379His | p.D379HNM_001142929.1:c.781G>C, NM_001142933.1:c.889G>C, NM_001142934.1:c.781G>C, NM_020549.4:c.1135G>C, NM_020984.3:c.781G>C, NM_020985.3:c.781G>C, NM_020986.3:c.781G>CBenign07/29/2015 
21CHATEx8NM_020549.4:c.1186G>Ap.Val396Met | p.V396MNM_001142929.1:c.832G>A, NM_001142933.1:c.940G>A, NM_001142934.1:c.832G>A, NM_020549.4:c.1186G>A, NM_020984.3:c.832G>A, NM_020985.3:c.832G>A, NM_020986.3:c.832G>AVOUS06/25/2019
22CHATEx8NM_020549.4:c.1228G>Ap.Gly410Ser | p.G410SNM_001142929.1:c.874G>A, NM_001142933.1:c.982G>A, NM_001142934.1:c.874G>A, NM_020549.4:c.1228G>A, NM_020984.3:c.874G>A, NM_020985.3:c.874G>A, NM_020986.3:c.874G>AVOUS05/31/2018
23CHATEx8NM_020549.4:c.1248C>Tp.Asn416= | p.N416=NM_001142929.1:c.894C>T, NM_001142933.1:c.1002C>T, NM_001142934.1:c.894C>T, NM_020549.4:c.1248C>T, NM_020984.3:c.894C>T, NM_020985.3:c.894C>T, NM_020986.3:c.894C>TVOUS12/08/2014
24CHATEx9NM_020549.4:c.1372C>Tp.Leu458Phe | p.L458FNM_001142929.1:c.1018C>T, NM_001142933.1:c.1126C>T, NM_001142934.1:c.1018C>T, NM_020549.4:c.1372C>T, NM_020984.3:c.1018C>T, NM_020985.3:c.1018C>T, NM_020986.3:c.1018C>TBenign11/23/2014 
25CHATEx9NM_020549.4:c.1381G>Ap.Val461Met | p.V461MNM_001142929.1:c.1027G>A, NM_001142933.1:c.1135G>A, NM_001142934.1:c.1027G>A, NM_020549.4:c.1381G>A, NM_020984.3:c.1027G>A, NM_020985.3:c.1027G>A, NM_020986.3:c.1027G>ABenign11/21/2014 
26CHATEx10NM_020549.4:c.1511G>Ap.Arg504Gln | p.R504QNM_001142929.1:c.1157G>A, NM_001142933.1:c.1265G>A, NM_001142934.1:c.1157G>A, NM_020549.4:c.1511G>A, NM_020984.3:c.1157G>A, NM_020985.3:c.1157G>A, NM_020986.3:c.1157G>AVOUS11/30/2016
27CHATEx12NM_020549.4:c.1641T>Cp.His547= | p.H547=NM_001142929.1:c.1287T>C, NM_001142933.1:c.1395T>C, NM_001142934.1:c.1287T>C, NM_020549.4:c.1641T>C, NM_020984.3:c.1287T>C, NM_020985.3:c.1287T>C, NM_020986.3:c.1287T>CBenign11/17/2014 
28CHATEx12NM_020549.4:c.1668C>Tp.Ser556= | p.S556=NM_001142929.1:c.1314C>T, NM_001142933.1:c.1422C>T, NM_001142934.1:c.1314C>T, NM_020549.4:c.1668C>T, NM_020984.3:c.1314C>T, NM_020985.3:c.1314C>T, NM_020986.3:c.1314C>TVOUS12/09/2015
29CHATEx12NM_020549.4:c.1771G>Ap.Val591Met | p.V591MNM_001142929.1:c.1417G>A, NM_001142933.1:c.1525G>A, NM_001142934.1:c.1417G>A, NM_020549.4:c.1771G>A, NM_020984.3:c.1417G>A, NM_020985.3:c.1417G>A, NM_020986.3:c.1417G>AVOUS11/17/2014
30CHATEx13NM_020549.4:c.1823C>Ap.Thr608Asn | p.T608NNM_001142929.1:c.1469C>A, NM_001142933.1:c.1577C>A, NM_001142934.1:c.1469C>A, NM_020549.4:c.1823C>A, NM_020984.3:c.1469C>A, NM_020985.3:c.1469C>A, NM_020986.3:c.1469C>AVOUS06/04/2015
31CHATEx14NM_020549.4:c.1883G>Ap.Arg628Gln | p.R628QNM_001142929.1:c.1529G>A, NM_001142933.1:c.1637G>A, NM_001142934.1:c.1529G>A, NM_020549.4:c.1883G>A, NM_020984.3:c.1529G>A, NM_020985.3:c.1529G>A, NM_020986.3:c.1529G>AVOUS01/28/2015
32CHATEx15NM_020549.4:c.2067C>Tp.Ile689= | p.I689=NM_001142929.1:c.1713C>T, NM_001142933.1:c.1821C>T, NM_001142934.1:c.1713C>T, NM_020549.4:c.2067C>T, NM_020984.3:c.1713C>T, NM_020985.3:c.1713C>T, NM_020986.3:c.1713C>TBenign03/09/2015 
33CHATEx15NM_020549.4:c.2171T>Cp.Leu724Pro | p.L724PNM_001142929.1:c.1817T>C, NM_001142933.1:c.1925T>C, NM_001142934.1:c.1817T>C, NM_020549.4:c.2171T>C, NM_020984.3:c.1817T>C, NM_020985.3:c.1817T>C, NM_020986.3:c.1817T>CVOUS08/16/2018
34CHATEx15NM_020549.4:c.2222G>Ap.Arg741Lys | p.R741KNM_001142929.1:c.1868G>A, NM_001142933.1:c.1976G>A, NM_001142934.1:c.1868G>A, NM_020549.4:c.2222G>A, NM_020984.3:c.1868G>A, NM_020985.3:c.1868G>A, NM_020986.3:c.1868G>AVOUS06/21/2016

* 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.