Loading Data . . .

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  
1KCNQ1Ex1NM_000218.2:c.-5T>CNM_000218.2:c.-5T>CVOUS09/21/2015
2KCNQ1Ex1NM_000218.2:c.160_168dupATCGCGCCCp.Ile54_Pro56dup | p.I54_P56dupLRG_287t1:c.160_168dupATCGCGCCC, LRG_287t1:c.168_169insATCGCGCCC, NM_000218.2:c.160_168dupATCGCGCCC, NM_000218.2:c.168_169insATCGCGCCCBenign11/02/2017 
3KCNQ1Ex1NM_000218.2:c.190C>Tp.Pro64Ser | p.P64SLRG_287t1:c.190C>T, NM_000218.2:c.190C>TVOUS05/26/2017
4KCNQ1Ex1NM_000218.2:c.386+14C>TLRG_287t1:c.386+14C>T, NM_000218.2:c.386+14C>TVOUS12/22/2016
5KCNQ1Ex2NM_000218.2:c.447C>Tp.Ala149= | p.A149=LRG_287t1:c.447C>T, LRG_287t2:c.66C>T, NM_000218.2:c.447C>T, NM_181798.1:c.66C>T, NR_040711.1:n.322C>T, NR_040711.2:n.340C>TLikely benign07/19/2016 
6KCNQ1Ex2NM_000218.2:c.448G>Ap.Ala150Thr | p.A150TLRG_287t1:c.448G>A, LRG_287t2:c.67G>A, NM_000218.2:c.448G>A, NM_181798.1:c.67G>A, NR_040711.1:n.323G>A, NR_040711.2:n.341G>AVOUS06/28/2019
7KCNQ1Ex2NM_000218.2:c.477+5G>ALRG_287t1:c.477+5G>A, LRG_287t2:c.96+5G>A, NM_000218.2:c.477+5G>A, NM_181798.1:c.96+5G>A, NR_040711.1:n.352+5G>A, NR_040711.2:n.370+5G>ALikely pathogenic04/30/2019 
8KCNQ1Ex3NM_000218.2:c.478-8C>TLRG_287t1:c.478-8C>T, LRG_287t2:c.97-8C>T, NM_000218.2:c.478-8C>T, NM_181798.1:c.97-8C>T, NR_040711.1:n.353-8C>T, NR_040711.2:n.371-8C>TLikely benign11/02/2018 
9KCNQ1Ex3NM_000218.2:c.535G>Ap.Gly179Ser | p.G179SLRG_287t1:c.535G>A, LRG_287t2:c.154G>A, NM_000218.2:c.535G>A, NM_181798.1:c.154G>A, NR_040711.1:n.410G>A, NR_040711.2:n.428G>APathogenic11/22/2019 
10KCNQ1Ex5NM_000218.2:c.759C>Tp.Ser253= | p.S253=LRG_287t1:c.759C>T, LRG_287t2:c.378C>T, NM_000218.2:c.759C>T, NM_181798.1:c.378C>T, NR_040711.1:n.634C>T, NR_040711.2:n.652C>TVOUS08/01/2016
11KCNQ1Ex6NM_000218.2:c.879C>Ap.Arg293= | p.R293=LRG_287t1:c.879C>A, LRG_287t2:c.498C>A, NM_000218.2:c.879C>A, NM_181798.1:c.498C>A, NR_040711.1:n.754C>A, NR_040711.2:n.772C>AVOUS08/01/2016
12KCNQ1Ex8NM_000218.2:c.1085A>Gp.Lys362Arg | p.K362RLRG_287t1:c.1085A>G, LRG_287t2:c.704A>G, NM_000218.2:c.1085A>G, NM_181798.1:c.704A>G, NR_040711.1:n.960A>G, NR_040711.2:n.978A>GLikely pathogenic06/26/2019 
13KCNQ1Ex8NM_000218.2:c.1128+5G>TLRG_287t1:c.1128+5G>T, LRG_287t2:c.747+5G>T, NM_000218.2:c.1128+5G>T, NM_181798.1:c.747+5G>T, NR_040711.1:n.1003+5G>T, NR_040711.2:n.1021+5G>TVOUS10/27/2017
14KCNQ1Ex9NM_000218.2:c.1179G>Tp.Lys393Asn | p.K393NLRG_287t1:c.1179G>T, NM_000218.2:c.1179G>T, NM_181798.1:c.798G>T, NR_040711.1:n.1054G>T, NR_040711.2:n.1072G>TVOUS01/16/2015
15KCNQ1Ex9NM_000218.2:c.1201C>Tp.Arg401Trp | p.R401WLRG_287t1:c.1201C>T, LRG_287t2:c.820C>T, NM_000218.2:c.1201C>T, NM_181798.1:c.820C>T, NR_040711.1:n.1076C>T, NR_040711.2:n.1094C>TVOUS12/16/2016
16KCNQ1Ex10NM_000218.2:c.1252-3delTLRG_287t1:c.1252-3delT, LRG_287t2:c.871-3delT, NM_000218.2:c.1252-3delT, NM_181798.1:c.871-3delT, NR_040711.1:n.1127-3delT, NR_040711.2:n.1145-3delTLikely benign08/23/2017 
17KCNQ1Ex10NM_000218.2:c.1256A>Cp.Lys419Thr | p.K419TLRG_287t1:c.1256A>C, LRG_287t2:c.875A>C, NM_000218.2:c.1256A>C, NM_181798.1:c.875A>C, NR_040711.1:n.1131A>C, NR_040711.2:n.1149A>CVOUS05/01/2017
18KCNQ1Ex10NM_000218.2:c.1343C>Gp.Pro448Arg | p.P448RLRG_287t1:c.1343C>G, LRG_287t2:c.962C>G, NM_000218.2:c.1343C>G, NM_181798.1:c.962C>G, NR_040711.1:n.1218C>G, NR_040711.2:n.1236C>GBenign06/20/2018 
19KCNQ1Ex10NM_000218.2:c.1343C>Tp.Pro448Leu | p.P448LLRG_287t1:c.1343C>T, LRG_287t2:c.962C>T, NM_000218.2:c.1343C>T, NM_181798.1:c.962C>T, NR_040711.1:n.1218C>T, NR_040711.2:n.1236C>TVOUS08/21/2019
20KCNQ1Ex11NM_000218.2:c.1394-6C>TNM_000218.2:c.1394-6C>T, NM_181798.1:c.1013-6C>T, NR_002728.2:n.38044G>A, NR_002728.3:n.38044G>A, NR_040711.1:n.1269-6C>T, NR_040711.2:n.1287-6C>TVOUS03/12/2015
21KCNQ1Ex12NM_000218.2:c.1556G>Ap.Arg519His | p.R519HLRG_287t1:c.1556G>A, LRG_287t2:c.1175G>A, NM_000218.2:c.1556G>A, NM_181798.1:c.1175G>A, NR_040711.1:n.1431G>A, NR_040711.2:n.1449G>AVOUS08/24/2018
22KCNQ1Ex13NM_000218.2:c.1637C>Tp.Ser546Leu | p.S546LLRG_287t1:c.1637C>T, LRG_287t2:c.1256C>T, NM_000218.2:c.1637C>T, NM_181798.1:c.1256C>T, NR_040711.1:n.1512C>T, NR_040711.2:n.1530C>TPathogenic11/10/2014 
23KCNQ1Ex13NM_000218.2:c.1660G>Ap.Val554Met | p.V554MLRG_287t1:c.1660G>A, LRG_287t2:c.1279G>A, NM_000218.2:c.1660G>A, NM_181798.1:c.1279G>A, NR_040711.1:n.1535G>A, NR_040711.2:n.1553G>AVOUS09/20/2019
24KCNQ1Ex13NM_000218.2:c.1685+9G>ALRG_287t1:c.1685+9G>A, LRG_287t2:c.1304+9G>A, NM_000218.2:c.1685+9G>A, NM_181798.1:c.1304+9G>A, NR_040711.1:n.1560+9G>A, NR_040711.2:n.1578+9G>AVOUS09/07/2016
25KCNQ1Ex15NM_000218.2:c.1768G>Ap.Ala590Thr | p.A590TLRG_287t1:c.1768G>A, LRG_287t2:c.1387G>A, NM_000218.2:c.1768G>A, NM_181798.1:c.1387G>A, NR_040711.1:n.1643G>A, NR_040711.2:n.1661G>APathogenic11/15/2019 
26KCNQ1Ex16NM_000218.2:c.1861G>Ap.Gly621Ser | p.G621SLRG_287t1:c.1861G>A, LRG_287t2:c.1480G>A, NM_000218.2:c.1861G>A, NM_181798.1:c.1480G>A, NR_040711.1:n.1736G>A, NR_040711.2:n.1754G>AVOUS12/10/2018
27KCNQ1Ex16NM_000218.2:c.1875C>Tp.Pro625= | p.P625=NM_000218.2:c.1875C>T, NM_181798.1:c.1494C>T, NR_040711.1:n.1750C>T, NR_040711.2:n.1768C>TVOUS07/24/2015
28KCNQ1Ex16NM_000218.2:c.1927G>Ap.Gly643Ser | p.G643SLRG_287t1:c.1927G>A, LRG_287t2:c.1546G>A, NM_000218.2:c.1927G>A, NM_181798.1:c.1546G>A, NR_040711.1:n.1802G>A, NR_040711.2:n.1820G>ABenign05/31/2016 
29KCNQ1Ex16NM_000218.2:c.1942G>Ap.Val648Ile | p.V648INM_000218.2:c.1942G>A, NM_181798.1:c.1561G>A, NR_040711.1:n.1817G>A, NR_040711.2:n.1835G>ABenign02/08/2016 

* 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.