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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  
1CHRNA2Ex2NM_000742.3:c.24C>Tp.Phe8= | p.F8=NM_000742.3:c.24C>T, XM_005273396.1:c.24C>T, XM_005273397.1:c.-1834C>TVOUS10/29/2014
2CHRNA2Ex2NM_000742.3:c.65C>Tp.Thr22Ile | p.T22INM_000742.3:c.65C>T, XM_005273396.1:c.65C>T, XM_005273397.1:c.-1793C>TBenign07/07/2016 
3CHRNA2Ex3NM_000742.3:c.140C>Tp.Thr47Met | p.T47MNM_000742.3:c.140C>T, XM_005273396.1:c.140C>T, XM_005273397.1:c.-714C>TVOUS01/04/2018
4CHRNA2Ex3NM_000742.3:c.150G>Ap.Pro50= | p.P50=NM_000742.3:c.150G>A, XM_005273396.1:c.150G>A, XM_005273397.1:c.-704G>AVOUS06/21/2018
5CHRNA2Ex3NM_000742.3:c.161C>Tp.Ser54Leu | p.S54LNM_000742.3:c.161C>T, XM_005273396.1:c.161C>T, XM_005273397.1:c.-693C>TVOUS03/26/2019
6CHRNA2Ex3NM_000742.3:c.166A>Tp.Thr56Ser | p.T56SNM_000742.3:c.166A>T, XM_005273396.1:c.166A>T, XM_005273397.1:c.-688A>TVOUS03/07/2019
7CHRNA2Ex3NM_000742.3:c.227C>Tp.Pro76Leu | p.P76LNM_000742.3:c.227C>T, XM_005273396.1:c.227C>T, XM_005273397.1:c.-627C>TVOUS01/15/2015
8CHRNA2Ex4NM_000742.3:c.295G>Ap.Asp99Asn | p.D99NNM_000742.3:c.295G>A, XM_005273396.1:c.250G>A, XM_005273397.1:c.-178G>AVOUS04/24/2019
9CHRNA2Ex4NM_000742.3:c.321C>Tp.Thr107= | p.T107=NM_000742.3:c.321C>T, XM_005273396.1:c.276C>T, XM_005273397.1:c.-152C>TVOUS09/13/2016
10CHRNA2Ex5NM_000742.3:c.351C>Tp.Asp117= | p.D117=NM_000742.3:c.351C>T, XM_005273396.1:c.306C>T, XM_005273397.1:c.-122C>TBenign10/22/2015 
11CHRNA2Ex5NM_000742.3:c.373A>Gp.Thr125Ala | p.T125ANM_000742.3:c.373A>G, XM_005273396.1:c.328A>G, XM_005273397.1:c.-100A>GBenign01/02/2015 
12CHRNA2Ex5NM_000742.3:c.383G>Ap.Gly128Asp | p.G128DNM_000742.3:c.383G>A, XM_005273396.1:c.338G>A, XM_005273397.1:c.-90G>AVOUS06/05/2015
13CHRNA2Ex5NM_000742.3:c.449+12T>CNM_000742.3:c.449+12T>C, XM_005273396.1:c.404+12T>C, XM_005273397.1:c.-24+12T>CBenign10/22/2015 
14CHRNA2Ex6NM_000742.3:c.489C>Tp.Ala163= | p.A163=NM_000742.3:c.489C>T, NM_004103.3:c.*5445G>A, NM_004103.4:c.*5445G>A, NM_173174.1:c.*5445G>A, NM_173174.2:c.*5445G>A, NM_173175.1:c.*5445G>A, NM_173175.2:c.*5445G>A, NM_173176.1:c.*5445G>A, NM_173176.2:c.*5445G>A, XM_005273396.1:c.444C>T, XM_005273397.1:c.12C>T, XM_005273447.1:c.*5445G>A, XM_005273448.1:c.*5445G>ABenign12/18/2014 
15CHRNA2Ex6NM_000742.3:c.576C>Tp.Phe192= | p.F192=NM_000742.3:c.576C>T, NM_004103.3:c.*5358G>A, NM_004103.4:c.*5358G>A, NM_173174.1:c.*5358G>A, NM_173174.2:c.*5358G>A, NM_173175.1:c.*5358G>A, NM_173175.2:c.*5358G>A, NM_173176.1:c.*5358G>A, NM_173176.2:c.*5358G>AVOUS02/27/2014
16CHRNA2Ex6NM_000742.3:c.589T>Cp.Cys197Arg | p.C197RNM_000742.3:c.589T>C, NM_004103.3:c.*5345A>G, NM_004103.4:c.*5345A>G, NM_173174.1:c.*5345A>G, NM_173174.2:c.*5345A>G, NM_173175.1:c.*5345A>G, NM_173175.2:c.*5345A>G, NM_173176.1:c.*5345A>G, NM_173176.2:c.*5345A>G, XM_005273396.1:c.544T>C, XM_005273397.1:c.112T>C, XM_005273447.1:c.*5345A>G, XM_005273448.1:c.*5345A>GVOUS04/24/2017
17CHRNA2Ex6NM_000742.3:c.684C>Tp.Ser228= | p.S228=NM_000742.3:c.684C>T, NM_004103.3:c.*5250G>A, NM_004103.4:c.*5250G>A, NM_173174.1:c.*5250G>A, NM_173174.2:c.*5250G>A, NM_173175.1:c.*5250G>A, NM_173175.2:c.*5250G>A, NM_173176.1:c.*5250G>A, NM_173176.2:c.*5250G>A, XM_005273396.1:c.639C>T, XM_005273397.1:c.207C>T, XM_005273447.1:c.*5250G>A, XM_005273448.1:c.*5250G>ALikely benign12/29/2017 
18CHRNA2Ex6NM_000742.3:c.745G>Ap.Ala249Thr | p.A249TNM_000742.3:c.745G>A, NM_004103.3:c.*5189C>T, NM_004103.4:c.*5189C>T, NM_173174.1:c.*5189C>T, NM_173174.2:c.*5189C>T, NM_173175.1:c.*5189C>T, NM_173175.2:c.*5189C>T, NM_173176.1:c.*5189C>T, NM_173176.2:c.*5189C>T, XM_005273396.1:c.700G>A, XM_005273397.1:c.268G>A, XM_005273447.1:c.*5189C>T, XM_005273448.1:c.*5189C>TVOUS11/22/2016
19CHRNA2Ex6NM_000742.3:c.859_862delTTCTinsCNM_000742.3:c.859_862delinsC, NM_004103.3:c.*5072_*5075delinsG, NM_004103.4:c.*5072_*5075delinsG, NM_173174.1:c.*5072_*5075delinsG, NM_173174.2:c.*5072_*5075delinsG, NM_173175.1:c.*5072_*5075delinsG, NM_173175.2:c.*5072_*5075delinsG, NM_173176.1:c.*5072_*5075delinsG, NM_173176.2:c.*5072_*5075delinsG, XM_005273396.1:c.814_817delinsC, XM_005273397.1:c.382_385delinsC, XM_005273447.1:c.*5072_*5075delinsG, XM_005273448.1:c.*5072_*5075delinsGVOUS09/29/2016
20CHRNA2Ex6NM_000742.3:c.873C>Tp.Ser291= | p.S291=NM_000742.3:c.873C>T, NM_004103.3:c.*5061G>A, NM_004103.4:c.*5061G>A, NM_173174.1:c.*5061G>A, NM_173174.2:c.*5061G>A, NM_173175.1:c.*5061G>A, NM_173175.2:c.*5061G>A, NM_173176.1:c.*5061G>A, NM_173176.2:c.*5061G>AVOUS04/14/2014
21CHRNA2Ex6NM_000742.3:c.937C>Tp.Leu313Phe | p.L313FNM_000742.3:c.937C>T, NM_004103.3:c.*4997G>A, NM_004103.4:c.*4997G>A, NM_173174.1:c.*4997G>A, NM_173174.2:c.*4997G>A, NM_173175.1:c.*4997G>A, NM_173175.2:c.*4997G>A, NM_173176.1:c.*4997G>A, NM_173176.2:c.*4997G>A, XM_005273396.1:c.892C>T, XM_005273397.1:c.460C>T, XM_005273447.1:c.*4997G>A, XM_005273448.1:c.*4997G>AVOUS05/23/2018
22CHRNA2Ex6NM_000742.3:c.984C>Tp.Ile328= | p.I328=NM_000742.3:c.984C>T, NM_004103.3:c.*4950G>A, NM_004103.4:c.*4950G>A, NM_173174.1:c.*4950G>A, NM_173174.2:c.*4950G>A, NM_173175.1:c.*4950G>A, NM_173175.2:c.*4950G>A, NM_173176.1:c.*4950G>A, NM_173176.2:c.*4950G>A, XM_005273396.1:c.939C>T, XM_005273397.1:c.507C>T, XM_005273447.1:c.*4950G>A, XM_005273448.1:c.*4950G>AVOUS01/04/2017
23CHRNA2Ex6NM_000742.3:c.990G>Ap.Glu330= | p.E330=NM_000742.3:c.990G>A, NM_004103.3:c.*4944C>T, NM_004103.4:c.*4944C>T, NM_173174.1:c.*4944C>T, NM_173174.2:c.*4944C>T, NM_173175.1:c.*4944C>T, NM_173175.2:c.*4944C>T, NM_173176.1:c.*4944C>T, NM_173176.2:c.*4944C>T, XM_005273396.1:c.945G>A, XM_005273397.1:c.513G>A, XM_005273447.1:c.*4944C>T, XM_005273448.1:c.*4944C>TVOUS03/13/2015
24CHRNA2Ex6NM_000742.3:c.1050C>Tp.Leu350= | p.L350=NM_000742.3:c.1050C>T, NM_004103.3:c.*4884G>A, NM_004103.4:c.*4884G>A, NM_173174.1:c.*4884G>A, NM_173174.2:c.*4884G>A, NM_173175.1:c.*4884G>A, NM_173175.2:c.*4884G>A, NM_173176.1:c.*4884G>A, NM_173176.2:c.*4884G>A, XM_005273396.1:c.1005C>T, XM_005273397.1:c.573C>T, XM_005273447.1:c.*4884G>A, XM_005273448.1:c.*4884G>AVOUS12/11/2019
25CHRNA2Ex6NM_000742.3:c.1202A>Gp.Tyr401Cys | p.Y401CNM_000742.3:c.1202A>G, NM_004103.3:c.*4732T>C, NM_004103.4:c.*4732T>C, NM_173174.1:c.*4732T>C, NM_173174.2:c.*4732T>C, NM_173175.1:c.*4732T>C, NM_173175.2:c.*4732T>C, NM_173176.1:c.*4732T>C, NM_173176.2:c.*4732T>C, XM_005273396.1:c.1157A>G, XM_005273397.1:c.725A>G, XM_005273447.1:c.*4732T>C, XM_005273448.1:c.*4732T>CVOUS08/26/2020
26CHRNA2Ex6NM_000742.3:c.1234G>Ap.Glu412Lys | p.E412KNM_000742.3:c.1234G>A, NM_004103.3:c.*4700C>T, NM_004103.4:c.*4700C>T, NM_173174.1:c.*4700C>T, NM_173174.2:c.*4700C>T, NM_173175.1:c.*4700C>T, NM_173175.2:c.*4700C>T, NM_173176.1:c.*4700C>T, NM_173176.2:c.*4700C>T, XM_005273396.1:c.1189G>A, XM_005273397.1:c.757G>A, XM_005273447.1:c.*4700C>T, XM_005273448.1:c.*4700C>TVOUS10/14/2016
27CHRNA2Ex6NM_000742.3:c.1260_1262delGGAp.Glu420del | p.E420delNM_000742.3:c.1260_1262delGGA, NM_004103.3:c.*4672_*4674delTCC, NM_004103.4:c.*4672_*4674delTCC, NM_173174.1:c.*4672_*4674delTCC, NM_173174.2:c.*4672_*4674delTCC, NM_173175.1:c.*4672_*4674delTCC, NM_173175.2:c.*4672_*4674delTCC, NM_173176.1:c.*4672_*4674delTCC, NM_173176.2:c.*4672_*4674delTCC, XM_005273396.1:c.1215_1217delGGA, XM_005273397.1:c.783_785delGGA, XM_005273447.1:c.*4672_*4674delTCC, XM_005273448.1:c.*4672_*4674delTCCVOUS06/15/2017
28CHRNA2Ex6NM_000742.3:c.1270G>Ap.Ala424Thr | p.A424TNM_000742.3:c.1270G>A, NM_004103.3:c.*4664C>T, NM_004103.4:c.*4664C>T, NM_173174.1:c.*4664C>T, NM_173174.2:c.*4664C>T, NM_173175.1:c.*4664C>T, NM_173175.2:c.*4664C>T, NM_173176.1:c.*4664C>T, NM_173176.2:c.*4664C>T, XM_005273396.1:c.1225G>A, XM_005273397.1:c.793G>A, XM_005273447.1:c.*4664C>T, XM_005273448.1:c.*4664C>TVOUS06/16/2017
29CHRNA2Ex6NM_000742.3:c.1354G>Ap.Glu452Lys | p.E452KNM_000742.3:c.1354G>A, NM_004103.3:c.*4580C>T, NM_004103.4:c.*4580C>T, NM_173174.1:c.*4580C>T, NM_173174.2:c.*4580C>T, NM_173175.1:c.*4580C>T, NM_173175.2:c.*4580C>T, NM_173176.1:c.*4580C>T, NM_173176.2:c.*4580C>T, XM_005273396.1:c.1309G>A, XM_005273397.1:c.877G>A, XM_005273447.1:c.*4580C>T, XM_005273448.1:c.*4580C>TVOUS02/20/2017
30CHRNA2Ex6NM_000742.3:c.1431C>Gp.Ala477= | p.A477=NM_000742.3:c.1431C>G, NM_004103.3:c.*4503G>C, NM_004103.4:c.*4503G>C, NM_173174.1:c.*4503G>C, NM_173174.2:c.*4503G>C, NM_173175.1:c.*4503G>C, NM_173175.2:c.*4503G>C, NM_173176.1:c.*4503G>C, NM_173176.2:c.*4503G>C, XM_005273396.1:c.1386C>G, XM_005273397.1:c.954C>G, XM_005273447.1:c.*4503G>C, XM_005273448.1:c.*4503G>CVOUS09/19/2016
31CHRNA2Ex6NM_000742.3:c.1432G>Cp.Asp478His | p.D478HNM_000742.3:c.1432G>C, NM_004103.3:c.*4502C>G, NM_004103.4:c.*4502C>G, NM_173174.1:c.*4502C>G, NM_173174.2:c.*4502C>G, NM_173175.1:c.*4502C>G, NM_173175.2:c.*4502C>G, NM_173176.1:c.*4502C>G, NM_173176.2:c.*4502C>G, XM_005273396.1:c.1387G>C, XM_005273397.1:c.955G>C, XM_005273447.1:c.*4502C>G, XM_005273448.1:c.*4502C>GVOUS02/23/2018
32CHRNA2Ex6NM_000742.3:c.1434C>Ap.Asp478Glu | p.D478ENM_000742.3:c.1434C>A, NM_004103.3:c.*4500G>T, NM_004103.4:c.*4500G>T, NM_173174.1:c.*4500G>T, NM_173174.2:c.*4500G>T, NM_173175.1:c.*4500G>T, NM_173175.2:c.*4500G>T, NM_173176.1:c.*4500G>T, NM_173176.2:c.*4500G>T, XM_005273396.1:c.1389C>A, XM_005273397.1:c.957C>A, XM_005273447.1:c.*4500G>T, XM_005273448.1:c.*4500G>TLikely benign03/13/2017 
33CHRNA2Ex7NM_000742.3:c.1500C>Tp.Ile500= | p.I500=NM_000742.3:c.1500C>T, NM_004103.3:c.*3210G>A, NM_004103.4:c.*3210G>A, NM_173174.1:c.*3210G>A, NM_173174.2:c.*3210G>A, NM_173175.1:c.*3210G>A, NM_173175.2:c.*3210G>A, NM_173176.1:c.*3210G>A, NM_173176.2:c.*3210G>A, XM_005273396.1:c.1455C>T, XM_005273397.1:c.1023C>T, XM_005273447.1:c.*3210G>A, XM_005273448.1:c.*3210G>ABenign07/19/2016 
34CHRNA2Ex7NM_000742.3:c.1530C>Tp.Ile510= | p.I510=NM_000742.3:c.1530C>T, NM_004103.3:c.*3180G>A, NM_004103.4:c.*3180G>A, NM_173174.1:c.*3180G>A, NM_173174.2:c.*3180G>A, NM_173175.1:c.*3180G>A, NM_173175.2:c.*3180G>A, NM_173176.1:c.*3180G>A, NM_173176.2:c.*3180G>A, XM_005273396.1:c.1485C>T, XM_005273397.1:c.1053C>T, XM_005273447.1:c.*3180G>A, XM_005273448.1:c.*3180G>AVOUS05/18/2018

* 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.