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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  
1GABRG2Ex1NM_000816.3:c.-4delABenign03/16/2020 
2GABRG2Ex5NM_000816.3:c.582G>Ap.Leu194= | p.L194=NM_000816.3:c.582G>A, NM_198903.2:c.582G>A, NM_198904.2:c.582G>A, XM_005265870.1:c.582G>AVOUS08/14/2014
3GABRG2Ex5NM_000816.3:c.588C>Tp.Asn196= | p.N196=NM_000816.3:c.588C>T, NM_198903.2:c.588C>T, NM_198904.2:c.588C>TBenign07/03/2013 
4GABRG2Ex6NM_000816.3:c.632-6C>TVOUS05/24/2019
5GABRG2Ex6NM_000816.3:c.691G>Ap.Asp231Asn | p.D231NNM_000816.3:c.691G>A, NM_198903.2:c.811G>A, NM_198904.2:c.691G>A, XM_005265870.1:c.811G>AVOUS08/12/2015
6GABRG2Ex6NM_000816.3:c.768C>Tp.Ser256= | p.S256=NM_000816.3:c.768C>T, NM_198903.2:c.888C>T, NM_198904.2:c.768C>T, XM_005265870.1:c.888C>TLikely benign05/29/2018 
7GABRG2Ex7NM_000816.3:c.798T>Cp.Phe266= | p.F266=NM_000816.3:c.798T>C, NM_198903.2:c.918T>C, NM_198904.2:c.798T>C, XM_005265870.1:c.918T>CVOUS05/05/2020
8GABRG2Ex8NM_000816.3:c.1000G>Ap.Ala334Thr | p.A334TNM_000816.3:c.1000G>A, NM_198903.2:c.1120G>A, NM_198904.2:c.1000G>AVOUS08/09/2013
9GABRG2Ex8NM_000816.3:c.1088G>Ap.Arg363Gln | p.R363QNM_000816.3:c.1088G>A, NM_198903.2:c.1208G>A, NM_198904.2:c.1088G>A, XM_005265870.1:c.1208G>AVOUS09/26/2019
10GABRG2Ex8NM_000816.3:c.1110T>Cp.Asp370= | p.D370=NM_000816.3:c.1110T>C, NM_198903.2:c.1230T>C, NM_198904.2:c.1110T>C, XM_005265870.1:c.1230T>CVOUS08/31/2016
11GABRG2Ex8NM_000816.3:c.1113_1115delAAAp.Lys374del | p.K374delNM_000816.3:c.1113_1115delAAA, NM_198903.2:c.1233_1235delAAA, NM_198904.2:c.1113_1115delAAAVOUS04/03/2014
12GABRG2Ex9NM_000816.3:c.1296G>Ap.Gly432= | p.G432=NM_000816.3:c.1296G>A, NM_198903.2:c.1440G>A, NM_198904.2:c.1320G>A, XM_005265870.1:c.1416G>AVOUS09/09/2016
13GABRG2Ex6NM_198903.2:c.632-10_632-6dupTTTTGBenign07/28/2020 
14GABRG2Ex6NM_198903.2:c.643A>Gp.Ile215Val | p.I215VNM_000816.3:c.631+1248A>G, NM_198903.2:c.643A>G, NM_198904.2:c.631+1248A>G, XM_005265870.1:c.643A>GBenign10/21/2020 
15GABRG2Ex6NM_198903.2:c.678_679delGGinsATp.Ala227Ser | p.A227SNM_000816.3:c.631+1283_631+1284delinsAT, NM_198903.2:c.678_679delinsAT, NM_198904.2:c.631+1283_631+1284delinsAT, XM_005265870.1:c.678_679delinsATBenign10/30/2020 
16GABRG2Ex6NM_198903.2:c.703G>Tp.Gly235Cys | p.G235CNM_000816.3:c.632-1264G>T, NM_198903.2:c.703G>T, NM_198904.2:c.632-1264G>T, XM_005265870.1:c.703G>TBenign06/23/2020 
17GABRG2Ex6NM_198903.2:c.705C>Ap.Gly235= | p.G235=NM_000816.3:c.632-1262C>A, NM_198903.2:c.705C>A, NM_198904.2:c.632-1262C>A, XM_005265870.1:c.705C>ABenign07/28/2020 

* 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.