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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  
1GABRA1Ex3NM_000806.5:c.27C>Ap.Asp9Glu | p.D9ENM_000806.5:c.27C>A, NM_001127643.1:c.27C>A, NM_001127644.1:c.27C>A, NM_001127645.1:c.27C>A, NM_001127646.1:c.27C>A, NM_001127647.1:c.27C>A, NM_001127648.1:c.27C>A, XM_002342592.1:c.167G>TLikely benign05/15/2018 
2GABRA1Ex3NM_000806.5:c.28T>Cp.Cys10Arg | p.C10RNM_000806.5:c.28T>C, NM_001127643.1:c.28T>C, NM_001127644.1:c.28T>C, NM_001127645.1:c.28T>C, NM_001127646.1:c.28T>C, NM_001127647.1:c.28T>C, NM_001127648.1:c.28T>C, XM_002342592.1:c.166A>GVOUS06/28/2019
3GABRA1Ex3NM_000806.5:c.74+5G>AVOUS11/15/2019
4GABRA1Ex4NM_000806.5:c.75-4delTNM_000806.5:c.75-4delT, NM_001127643.1:c.75-4delT, NM_001127644.1:c.75-4delT, NM_001127645.1:c.75-4delT, NM_001127646.1:c.75-4delT, NM_001127647.1:c.75-4delT, NM_001127648.1:c.75-4delT, XM_002342592.1:c.111-3261delAVOUS09/23/2016
5GABRA1Ex4NM_000806.5:c.85C>Tp.Pro29Ser | p.P29SNM_000806.5:c.85C>T, NM_001127643.1:c.85C>T, NM_001127644.1:c.85C>T, NM_001127645.1:c.85C>T, NM_001127646.1:c.85C>T, NM_001127647.1:c.85C>T, NM_001127648.1:c.85C>T, XM_002342592.1:c.111-3275G>AVOUS05/27/2015
6GABRA1Ex4NM_000806.5:c.156T>Cp.Gly52= | p.G52=NM_000806.5:c.156T>C, NM_001127643.1:c.156T>C, NM_001127644.1:c.156T>C, NM_001127645.1:c.156T>C, NM_001127646.1:c.156T>C, NM_001127647.1:c.156T>C, NM_001127648.1:c.156T>C, XM_002342592.1:c.111-3346A>GBenign09/29/2016 
7GABRA1Ex6NM_000806.5:c.335G>Ap.Arg112Gln | p.R112QNM_000806.5:c.335G>A, NM_001127643.1:c.335G>A, NM_001127644.1:c.335G>A, NM_001127645.1:c.335G>A, NM_001127646.1:c.335G>A, NM_001127647.1:c.335G>A, NM_001127648.1:c.335G>A, XM_002342592.1:c.111-22303C>TVOUS04/16/2014
8GABRA1Ex6NM_000806.5:c.441G>Tp.Arg147= | p.R147=NM_000806.5:c.441G>T, NM_001127643.1:c.441G>T, NM_001127644.1:c.441G>T, NM_001127645.1:c.441G>T, NM_001127646.1:c.441G>T, NM_001127647.1:c.441G>T, NM_001127648.1:c.441G>T, XM_002342592.1:c.111-22409C>AVOUS11/12/2015
9GABRA1Ex7NM_000806.5:c.501G>Ap.Pro167= | p.P167=NM_000806.5:c.501G>A, NM_001127643.1:c.501G>A, NM_001127644.1:c.501G>A, NM_001127645.1:c.501G>A, NM_001127646.1:c.501G>A, NM_001127647.1:c.501G>A, NM_001127648.1:c.501G>A, XM_002342592.1:c.111-24691C>TVOUS08/26/2015
10GABRA1Ex8NM_000806.5:c.612C>Tp.Arg204= | p.R204=NM_000806.5:c.612C>T, NM_001127643.1:c.612C>T, NM_001127644.1:c.612C>T, NM_001127645.1:c.612C>T, NM_001127646.1:c.612C>T, NM_001127647.1:c.612C>T, NM_001127648.1:c.612C>T, XM_002342592.1:c.111-31717G>AVOUS04/23/2015
11GABRA1Ex8NM_000806.5:c.640C>Ap.Arg214Ser | p.R214SNM_000806.5:c.640C>A, NM_001127643.1:c.640C>A, NM_001127644.1:c.640C>A, NM_001127645.1:c.640C>A, NM_001127646.1:c.640C>A, NM_001127647.1:c.640C>A, NM_001127648.1:c.640C>A, XM_002342592.1:c.111-31745G>TLikely pathogenic08/29/2014 
12GABRA1Ex9NM_000806.5:c.704-10T>CNM_000806.5:c.704-10T>C, NM_001127643.1:c.704-10T>C, NM_001127644.1:c.704-10T>C, NM_001127645.1:c.704-10T>C, NM_001127646.1:c.704-10T>C, NM_001127647.1:c.704-10T>C, NM_001127648.1:c.704-10T>C, XM_002342592.1:c.111-39995A>GVOUS04/20/2018
13GABRA1Ex9NM_000806.5:c.851T>Cp.Val284Ala | p.V284ANM_000806.5:c.851T>C, NM_001127643.1:c.851T>C, NM_001127644.1:c.851T>C, NM_001127645.1:c.851T>C, NM_001127646.1:c.851T>C, NM_001127647.1:c.851T>C, NM_001127648.1:c.851T>C, XM_002342592.1:c.111-40152A>GVOUS03/13/2020
14GABRA1Ex10NM_000806.5:c.857-9delTNM_000806.5:c.857-9delT, NM_001127643.1:c.857-9delT, NM_001127644.1:c.857-9delT, NM_001127645.1:c.857-9delT, NM_001127646.1:c.857-9delT, NM_001127647.1:c.857-9delT, NM_001127648.1:c.857-9delT, XM_002342592.1:c.111-44764delABenign01/07/2015 
15GABRA1Ex10NM_000806.5:c.857-9dupTNM_000806.5:c.857-9_857-8insT, NM_001127643.1:c.857-9_857-8insT, NM_001127644.1:c.857-9_857-8insT, NM_001127645.1:c.857-9_857-8insT, NM_001127646.1:c.857-9_857-8insT, NM_001127647.1:c.857-9_857-8insT, NM_001127648.1:c.857-9_857-8insT, XM_002342592.1:c.111-44765_111-44764insALikely benign11/14/2014 
16GABRA1Ex10NM_000806.5:c.1059+15G>ANM_000806.5:c.1059+15G>A, NM_001127643.1:c.1059+15G>A, NM_001127644.1:c.1059+15G>A, NM_001127645.1:c.1059+15G>A, NM_001127646.1:c.1059+15G>A, NM_001127647.1:c.1059+15G>A, NM_001127648.1:c.1059+15G>A, XM_002342592.1:c.111-44990C>TBenign07/03/2013 
17GABRA1Ex11NM_000806.5:c.*2T>ANM_000806.5:c.*2T>A, NM_001127643.1:c.*2T>A, NM_001127644.1:c.*2T>A, NM_001127645.1:c.*2T>A, NM_001127646.1:c.*2T>A, NM_001127647.1:c.*2T>A, NM_001127648.1:c.*2T>A, XM_002342592.1:c.111-46531A>TVOUS06/06/2017
18GABRA1Ex11NM_000806.5:c.1086T>Cp.Ile362= | p.I362=NM_000806.5:c.1086T>C, NM_001127643.1:c.1086T>C, NM_001127644.1:c.1086T>C, NM_001127645.1:c.1086T>C, NM_001127646.1:c.1086T>C, NM_001127647.1:c.1086T>C, NM_001127648.1:c.1086T>C, XM_002342592.1:c.111-46244A>GVOUS08/11/2020
19GABRA1Ex11NM_000806.5:c.1155C>Ap.Gly385= | p.G385=NM_000806.5:c.1155C>A, NM_001127643.1:c.1155C>A, NM_001127644.1:c.1155C>A, NM_001127645.1:c.1155C>A, NM_001127646.1:c.1155C>A, NM_001127647.1:c.1155C>A, NM_001127648.1:c.1155C>A, XM_002342592.1:c.111-46313G>TVOUS08/26/2015
20GABRA1Ex11NM_000806.5:c.1225C>Tp.Pro409Ser | p.P409SNM_000806.5:c.1225C>T, NM_001127643.1:c.1225C>T, NM_001127644.1:c.1225C>T, NM_001127645.1:c.1225C>T, NM_001127646.1:c.1225C>T, NM_001127647.1:c.1225C>T, NM_001127648.1:c.1225C>T, XM_002342592.1:c.111-46383G>AVOUS12/28/2016
21GABRA1Ex11NM_000806.5:c.1229A>Gp.Lys410Arg | p.K410RNM_000806.5:c.1229A>G, NM_001127643.1:c.1229A>G, NM_001127644.1:c.1229A>G, NM_001127645.1:c.1229A>G, NM_001127646.1:c.1229A>G, NM_001127647.1:c.1229A>G, NM_001127648.1:c.1229A>G, XM_002342592.1:c.111-46387T>CVOUS10/11/2016
22GABRA1Ex11NM_000806.5:c.1323G>Ap.Thr441= | p.T441=NM_000806.5:c.1323G>A, NM_001127643.1:c.1323G>A, NM_001127644.1:c.1323G>A, NM_001127645.1:c.1323G>A, NM_001127646.1:c.1323G>A, NM_001127647.1:c.1323G>A, NM_001127648.1:c.1323G>A, XM_002342592.1:c.111-46481C>TBenign07/03/2013 

* 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.