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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  
1USH1CEx3NM_005709.3:c.105-16C>TNM_005709.2:c.105-16C>T, NM_005709.3:c.105-16C>T, NM_153676.2:c.105-16C>T, NM_153676.3:c.105-16C>TBenign07/21/2017 
2USH1CEx3NM_005709.3:c.105-4A>GNM_005709.2:c.105-4A>G, NM_005709.3:c.105-4A>G, NM_153676.2:c.105-4A>G, NM_153676.3:c.105-4A>G, XM_005252725.1:c.105-4A>G, XM_005252726.1:c.105-4A>GVOUS04/12/2019
3USH1CEx3NM_005709.3:c.105G>Cp.Gln35His | p.Q35HNM_005709.2:c.105G>C, NM_005709.3:c.105G>C, NM_153676.2:c.105G>C, NM_153676.3:c.105G>C, XM_005252725.1:c.105G>C, XM_005252726.1:c.105G>CVOUS07/21/2017
4USH1CEx3NM_005709.3:c.188G>Ap.Arg63Gln | p.R63QNM_005709.2:c.188G>A, NM_005709.3:c.188G>A, NM_153676.2:c.188G>A, NM_153676.3:c.188G>A, XM_005252725.1:c.188G>A, XM_005252726.1:c.145+43G>AVOUS01/05/2015
5USH1CEx3NM_005709.3:c.216G>Ap.Val72= | p.V72=NM_005709.2:c.216G>A, NM_005709.3:c.216G>A, NM_153676.2:c.216G>A, NM_153676.3:c.216G>A, XM_005252725.1:c.216G>A, XM_005252726.1:c.145+71G>APathogenic06/27/2014 
6USH1CEx3NM_005709.3:c.225T>Cp.Asp75= | p.D75=NM_005709.2:c.225T>C, NM_005709.3:c.225T>C, NM_153676.2:c.225T>C, NM_153676.3:c.225T>C, XM_005252725.1:c.225T>C, XM_005252726.1:c.145+80T>CBenign07/23/2015 
7USH1CEx3NM_005709.3:c.238dupCp.Arg80Profs*69 | p.R80PfsX69NM_005709.2:c.238_239insC, NM_005709.2:c.238dup, NM_005709.2:c.238dupC, NM_005709.3:c.232_233insC, NM_005709.3:c.238_239insC, NM_005709.3:c.238dup, NM_005709.3:c.238dupC, NM_153676.2:c.238_239insC, NM_153676.2:c.238dup, NM_153676.2:c.238dupC, NM_153676.3:c.238_239insC, NM_153676.3:c.238dup, NM_153676.3:c.238dupC, XM_005252725.1:c.238_239insC, XM_005252725.1:c.238dupC, XM_005252726.1:c.145+93_145+94insC, XM_005252726.1:c.145+93dupCPathogenic11/28/2017 
8USH1CEx4NM_005709.3:c.275G>Ap.Arg92His | p.R92HNM_005709.2:c.275G>A, NM_005709.3:c.275G>A, NM_153676.2:c.275G>A, NM_153676.3:c.275G>A, XM_005252725.1:c.275G>A, XM_005252726.1:c.146-75G>AVOUS05/31/2016
9USH1CEx4NM_005709.3:c.360C>Tp.Gly120= | p.G120=NM_005709.2:c.360C>T, NM_005709.3:c.360C>T, NM_153676.2:c.360C>T, NM_153676.3:c.360C>T, XM_005252725.1:c.360C>T, XM_005252726.1:c.156C>TVOUS02/21/2017
10USH1CEx4NM_005709.3:c.381G>Tp.Gly127= | p.G127=NM_005709.2:c.381G>T, NM_005709.3:c.381G>T, NM_153676.2:c.381G>T, NM_153676.3:c.381G>T, XM_005252725.1:c.381G>T, XM_005252726.1:c.177G>TBenign04/03/2017 
11USH1CEx5NM_005709.3:c.388G>Ap.Val130Ile | p.V130INM_005709.2:c.388G>A, NM_005709.3:c.388G>A, NM_153676.2:c.388G>A, NM_153676.3:c.388G>A, XM_005252725.1:c.388G>A, XM_005252726.1:c.184G>ABenign07/10/2015 
12USH1CEx5NM_005709.3:c.403G>Ap.Val135Ile | p.V135INM_005709.2:c.403G>A, NM_005709.3:c.403G>A, NM_153676.2:c.403G>A, NM_153676.3:c.403G>ALikely benign09/13/2016 
13USH1CEx6NM_005709.3:c.497-2A>CPathogenic03/26/2020 
14USH1CEx6NM_005709.3:c.513C>Tp.Pro171= | p.P171=NM_005709.2:c.513C>T, NM_005709.3:c.513C>T, NM_153676.2:c.513C>T, NM_153676.3:c.513C>T, XM_005252725.1:c.513C>T, XM_005252726.1:c.309C>TVOUS09/03/2014
15USH1CEx8NM_005709.3:c.648G>Ap.Leu216= | p.L216=NM_005709.2:c.648G>A, NM_005709.3:c.648G>A, NM_153676.2:c.648G>A, NM_153676.3:c.648G>A, XM_005252725.1:c.648G>A, XM_005252726.1:c.444G>ALikely benign06/21/2016 
16USH1CEx8NM_005709.3:c.669C>Ap.Gly223= | p.G223=NM_005709.2:c.669C>A, NM_005709.3:c.669C>A, NM_153676.2:c.669C>A, NM_153676.3:c.669C>A, XM_005252725.1:c.669C>A, XM_005252726.1:c.465C>AVOUS02/24/2017
17USH1CEx8NM_005709.3:c.674+4G>ANM_005709.2:c.674+4G>A, NM_005709.3:c.674+4G>A, NM_153676.2:c.674+4G>A, NM_153676.3:c.674+4G>A, XM_005252725.1:c.674+4G>A, XM_005252726.1:c.470+4G>AVOUS09/07/2016
18USH1CEx12NM_005709.3:c.880C>Tp.Arg294Trp | p.R294WNM_005709.2:c.880C>T, NM_005709.3:c.880C>T, NM_153676.2:c.880C>T, NM_153676.3:c.880C>T, XM_005252725.1:c.823C>T, XM_005252726.1:c.676C>TVOUS12/10/2015
19USH1CEx12NM_005709.3:c.946G>Cp.Glu316Gln | p.E316QNM_005709.2:c.946G>C, NM_005709.3:c.946G>C, NM_153676.2:c.946G>C, NM_153676.3:c.946G>C, XM_005252725.1:c.889G>C, XM_005252726.1:c.742G>CBenign03/06/2015 
20USH1CEx12NM_005709.3:c.966G>Cp.Arg322= | p.R322=NM_005709.2:c.966G>C, NM_005709.3:c.966G>C, NM_153676.2:c.966G>C, NM_153676.3:c.966G>C, XM_005252725.1:c.909G>C, XM_005252726.1:c.762G>CVOUS07/25/2017
21USH1CEx13NM_005709.3:c.1039C>Tp.Gln347* | p.Q347XNM_005709.2:c.1039C>T, NM_005709.3:c.1039C>T, NM_153676.2:c.1039C>T, NM_153676.3:c.1039C>T, XM_005252725.1:c.982C>T, XM_005252726.1:c.835C>TLikely pathogenic02/08/2017 
22USH1CEx13NM_005709.3:c.1069C>Tp.Arg357Trp | p.R357WNM_005709.2:c.1069C>T, NM_005709.3:c.1069C>T, NM_153676.2:c.1069C>T, NM_153676.3:c.1069C>T, XM_005252725.1:c.1012C>T, XM_005252726.1:c.865C>TVOUS05/21/2014
23USH1CEx14NM_005709.3:c.1199G>Ap.Arg400His | p.R400HNM_005709.2:c.1199G>A, NM_005709.3:c.1199G>A, NM_153676.2:c.1199G>A, NM_153676.3:c.1199G>A, XM_005252725.1:c.1142G>A, XM_005252726.1:c.995G>AVOUS09/06/2018
24USH1CEx15NM_005709.3:c.1243G>Ap.Ala415Thr | p.A415TNM_005709.2:c.1243G>A, NM_005709.3:c.1243G>A, NM_153676.2:c.1211-1152G>A, NM_153676.3:c.1211-1152G>A, XM_005252725.1:c.1186G>A, XM_005252726.1:c.1039G>ABenign07/23/2015 
25USH1CEx15NM_005709.3:c.1266G>Ap.Thr422= | p.T422=NM_005709.2:c.1266G>A, NM_005709.3:c.1266G>A, NM_153676.2:c.1211-1129G>A, NM_153676.3:c.1211-1129G>ABenign04/17/2014 
26USH1CEx16NM_005709.3:c.1326+2T>CNM_005709.2:c.1326+2T>C, NM_005709.3:c.1326+2T>C, NM_153676.2:c.2226+2T>C, NM_153676.3:c.2226+2T>C, XM_005252725.1:c.1269+2T>C, XM_005252726.1:c.1122+2T>CLikely pathogenic05/23/2017 
27USH1CEx17NM_005709.3:c.1365C>Tp.Leu455= | p.L455=NM_005709.2:c.1365C>T, NM_005709.3:c.1365C>T, NM_153676.2:c.2265C>T, NM_153676.3:c.2265C>T, XM_005252725.1:c.1308C>T, XM_005252726.1:c.1161C>TVOUS03/31/2017
28USH1CEx19NM_005709.3:c.1491G>Ap.Val497= | p.V497=NM_005709.2:c.1491G>A, NM_005709.3:c.1491G>A, NM_153676.2:c.2391G>A, NM_153676.3:c.2391G>A, XM_005252725.1:c.1434G>A, XM_005252726.1:c.1287G>AVOUS02/14/2015
29USH1CEx19NM_005709.3:c.1543C>Tp.Leu515= | p.L515=NM_005709.2:c.1543C>T, NM_005709.3:c.1543C>T, NM_153676.2:c.2443C>T, NM_153676.3:c.2443C>T, XM_005252725.1:c.1486C>T, XM_005252726.1:c.1339C>TVOUS07/09/2015
30USH1CEx2NM_153676.3:c.91C>Tp.Arg31* | p.R31XNM_005709.2:c.91C>T, NM_005709.3:c.91C>T, NM_153676.2:c.91C>T, NM_153676.3:c.91C>T, XM_005252725.1:c.91C>T, XM_005252726.1:c.91C>TPathogenic10/18/2016 
31USH1CEx4NM_153676.3:c.275G>Ap.Arg92His | p.R92HNM_005709.2:c.275G>A, NM_005709.3:c.275G>A, NM_153676.2:c.275G>A, NM_153676.3:c.275G>A, XM_005252725.1:c.275G>A, XM_005252726.1:c.146-75G>AVOUS05/31/2016
32USH1CEx4NM_153676.3:c.381G>Tp.Gly127= | p.G127=NM_005709.2:c.381G>T, NM_005709.3:c.381G>T, NM_153676.2:c.381G>T, NM_153676.3:c.381G>T, XM_005252725.1:c.381G>T, XM_005252726.1:c.177G>TBenign09/22/2015 
33USH1CEx17NM_153676.3:c.1512T>Cp.Ala504= | p.A504=NM_005709.2:c.1284+6978T>C, NM_005709.3:c.1284+6978T>C, NM_153676.2:c.1512T>C, NM_153676.3:c.1512T>C, XM_005252725.1:c.1227+6978T>C, XM_005252726.1:c.1080+6978T>CVOUS02/17/2016
34USH1CEx18NM_153676.3:c.1531A>Cp.Met511Leu | p.M511LNM_005709.2:c.1284+7563A>C, NM_005709.3:c.1284+7563A>C, NM_153676.2:c.1531A>C, NM_153676.3:c.1531A>C, XM_005252725.1:c.1227+7563A>C, XM_005252726.1:c.1080+7563A>CVOUS09/20/2016
35USH1CEx18NM_153676.3:c.1570C>Tp.Pro524Ser | p.P524SNM_005709.2:c.1284+7602C>T, NM_005709.3:c.1284+7602C>T, NM_153676.2:c.1570C>T, NM_153676.3:c.1570C>T, XM_005252725.1:c.1227+7602C>T, XM_005252726.1:c.1080+7602C>TVOUS07/10/2018
36USH1CEx18NM_153676.3:c.1770C>Tp.Ala590= | p.A590=NM_005709.2:c.1285-7619C>T, NM_005709.3:c.1285-7619C>T, NM_153676.2:c.1770C>T, NM_153676.3:c.1770C>T, XM_005252725.1:c.1228-7619C>T, XM_005252726.1:c.1081-7619C>TBenign05/25/2016 
37USH1CEx18NM_153676.3:c.1859G>Tp.Arg620Leu | p.R620LNM_005709.2:c.1285-7530G>T, NM_005709.3:c.1285-7530G>T, NM_153676.2:c.1859G>T, NM_153676.3:c.1859G>T, XM_005252725.1:c.1228-7530G>T, XM_005252726.1:c.1081-7530G>TBenign01/20/2016 
38USH1CEx18NM_153676.3:c.1906C>Tp.Arg636Cys | p.R636CNM_005709.2:c.1285-7483C>T, NM_005709.3:c.1285-7483C>T, NM_153676.2:c.1906C>T, NM_153676.3:c.1906C>T, XM_005252725.1:c.1228-7483C>T, XM_005252726.1:c.1081-7483C>TVOUS05/03/2016
39USH1CEx18NM_153676.3:c.1942G>Ap.Glu648Lys | p.E648KNM_005709.2:c.1285-7447G>A, NM_005709.3:c.1285-7447G>A, NM_153676.2:c.1942G>A, NM_153676.3:c.1942G>A, XM_005252725.1:c.1228-7447G>A, XM_005252726.1:c.1081-7447G>AVOUS07/13/2016
40USH1CEx19NM_153676.3:c.2014-1G>ANM_005709.2:c.1285-3970G>A, NM_005709.3:c.1285-3970G>A, NM_153676.2:c.2014-1G>A, NM_153676.3:c.2014-1G>A, XM_005252725.1:c.1228-3970G>A, XM_005252726.1:c.1081-3970G>AVOUS01/20/2016
41USH1CEx19NM_153676.3:c.2124T>Cp.Ser708= | p.S708=NM_005709.2:c.1285-3859T>C, NM_005709.3:c.1285-3859T>C, NM_153676.2:c.2124T>C, NM_153676.3:c.2124T>C, XM_005252725.1:c.1228-3859T>C, XM_005252726.1:c.1081-3859T>CVOUS09/22/2015
42USH1CEx20NM_153676.3:c.2167C>Tp.Gln723* | p.Q723XNM_005709.2:c.1285-2684C>T, NM_005709.3:c.1285-2684C>T, NM_153676.2:c.2167C>T, NM_153676.3:c.2167C>T, XM_005252725.1:c.1228-2684C>T, XM_005252726.1:c.1081-2684C>TLikely pathogenic04/08/2016 
43USH1CEx26NM_153676.3:c.2611G>Ap.Ala871Thr | p.A871TNM_005709.2:c.1646+1145G>A, NM_005709.3:c.1646+1145G>A, NM_153676.2:c.2611G>A, NM_153676.3:c.2611G>A, XM_005252725.1:c.1589+1145G>A, XM_005252726.1:c.1442+1145G>ABenign09/19/2016 

* 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.