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  
1CASREx2NM_000388.3:c.6A>Cp.Ala2= | p.A2=NM_000388.3:c.6A>C, NM_001178065.1:c.6A>C, XM_005247836.1:c.6A>C, XM_005247837.1:c.-171A>CLikely benign01/22/2018 
2CASREx2NM_000388.3:c.60C>Tp.Tyr20= | p.Y20=NM_000388.3:c.60C>T, NM_001178065.1:c.60C>T, XM_005247836.1:c.60C>T, XM_005247837.1:c.-117C>TVOUS01/08/2016
3CASREx2NM_000388.3:c.78C>Gp.Ala26= | p.A26=NM_000388.3:c.78C>G, NM_001178065.1:c.78C>G, XM_005247836.1:c.78C>G, XM_005247837.1:c.-99C>GBenign09/08/2014 
4CASREx2NM_000388.3:c.114T>Cp.Phe38= | p.F38=NM_000388.3:c.114T>C, NM_001178065.1:c.114T>C, XM_005247836.1:c.114T>C, XM_005247837.1:c.-63T>CVOUS11/10/2014
5CASREx3NM_000388.3:c.323delTp.Leu108Trpfs*5 | p.L108WfsX5NM_000388.3:c.323delT, NM_001178065.1:c.323delT, XM_005247836.1:c.323delT, XM_005247837.1:c.9+2844delTPathogenic08/08/2018 
6CASREx3NM_000388.3:c.492+19G>ANM_000388.3:c.492+19G>A, NM_001178065.1:c.492+19G>ABenign08/22/2013 
7CASREx4NM_000388.3:c.493-6C>TVOUS07/28/2020
8CASREx4NM_000388.3:c.537A>Gp.Gln179= | p.Q179=NM_000388.3:c.537A>G, NM_001178065.1:c.537A>G, XM_005247836.1:c.537A>G, XM_005247837.1:c.54A>GLikely benign05/12/2017 
9CASREx4NM_000388.3:c.613C>Tp.Arg205Cys | p.R205CNM_000388.3:c.613C>T, NM_001178065.1:c.613C>T, XM_005247836.1:c.613C>T, XM_005247837.1:c.130C>TVOUS06/23/2017
10CASREx4NM_000388.3:c.748G>Ap.Glu250Lys | p.E250KNM_000388.3:c.748G>A, NM_001178065.1:c.748G>A, XM_005247836.1:c.748G>A, XM_005247837.1:c.265G>ABenign02/05/2015 
11CASREx4NM_000388.3:c.762T>Cp.His254= | p.H254=NM_000388.3:c.762T>C, NM_001178065.1:c.762T>C, XM_005247836.1:c.762T>C, XM_005247837.1:c.279T>CVOUS12/09/2020
12CASREx4NM_000388.3:c.826C>Gp.Leu276Val | p.L276VNM_000388.3:c.826C>G, NM_001178065.1:c.826C>G, XM_005247836.1:c.826C>G, XM_005247837.1:c.343C>GVOUS11/21/2018
13CASREx4NM_000388.3:c.854G>Ap.Arg285Gln | p.R285QNM_000388.3:c.854G>A, NM_001178065.1:c.854G>A, XM_005247836.1:c.854G>A, XM_005247837.1:c.371G>AVOUS11/30/2015
14CASREx4NM_000388.3:c.885C>Tp.Ala295= | p.A295=NM_000388.3:c.885C>T, NM_001178065.1:c.885C>T, XM_005247836.1:c.885C>T, XM_005247837.1:c.402C>TVOUS12/12/2018
15CASREx4NM_000388.3:c.888C>Tp.Ser296= | p.S296=NM_000388.3:c.888C>T, NM_001178065.1:c.888C>T, XM_005247836.1:c.888C>T, XM_005247837.1:c.405C>TVOUS08/29/2017
16CASREx4NM_000388.3:c.992G>Ap.Arg331Gln | p.R331QNM_000388.3:c.992G>A, NM_001178065.1:c.992G>A, XM_005247836.1:c.992G>A, XM_005247837.1:c.509G>AVOUS05/22/2018
17CASREx4NM_000388.3:c.1011C>Gp.Val337= | p.V337=NM_000388.3:c.1011C>G, NM_001178065.1:c.1011C>G, XM_005247836.1:c.1011C>G, XM_005247837.1:c.528C>GVOUS05/06/2019
18CASREx4NM_000388.3:c.1074C>Tp.Cys358= | p.C358=NM_000388.3:c.1074C>T, NM_001178065.1:c.1074C>T, XM_005247836.1:c.1074C>T, XM_005247837.1:c.591C>TVOUS07/29/2016
19CASREx4NM_000388.3:c.1110G>Ap.Val370= | p.V370=NM_000388.3:c.1110G>A, NM_001178065.1:c.1110G>A, XM_005247836.1:c.1110G>A, XM_005247837.1:c.627G>AVOUS06/26/2018
20CASREx4NM_000388.3:c.1163C>Gp.Ser388Trp | p.S388WNM_000388.3:c.1163C>G, NM_001178065.1:c.1163C>G, XM_005247836.1:c.1163C>G, XM_005247837.1:c.680C>GVOUS04/18/2017
21CASREx4NM_000388.3:c.1188A>Gp.Thr396= | p.T396=NM_000388.3:c.1188A>G, NM_001178065.1:c.1188A>G, XM_005247836.1:c.1188A>G, XM_005247837.1:c.705A>GVOUS05/28/2020
22CASREx4NM_000388.3:c.1192G>Ap.Asp398Asn | p.D398NNM_000388.3:c.1192G>A, NM_001178065.1:c.1192G>A, XM_005247836.1:c.1192G>A, XM_005247837.1:c.709G>AVOUS12/18/2018
23CASREx4NM_000388.3:c.1285C>Tp.His429Tyr | p.H429YNM_000388.3:c.1285C>T, NM_001178065.1:c.1285C>T, XM_005247836.1:c.1285C>T, XM_005247837.1:c.802C>TBenign10/30/2015 
24CASREx4NM_000388.3:c.1287C>Ap.His429Gln | p.H429QNM_000388.3:c.1287C>A, NM_001178065.1:c.1287C>A, XM_005247836.1:c.1287C>A, XM_005247837.1:c.804C>AVOUS08/29/2019
25CASREx4NM_000388.3:c.1287C>Tp.His429= | p.H429=NM_000388.3:c.1287C>T, NM_001178065.1:c.1287C>T, XM_005247836.1:c.1287C>T, XM_005247837.1:c.804C>TVOUS06/16/2017
26CASREx4NM_000388.3:c.1333A>Gp.Thr445Ala | p.T445ANM_000388.3:c.1333A>G, NM_001178065.1:c.1333A>G, XM_005247836.1:c.1333A>G, XM_005247837.1:c.850A>GBenign01/10/2019 
27CASREx5NM_000388.3:c.1491C>Tp.Ser497= | p.S497=NM_000388.3:c.1491C>T, NM_001178065.1:c.1491C>T, XM_005247836.1:c.1491C>T, XM_005247837.1:c.1008C>TVOUS01/15/2019
28CASREx6NM_000388.3:c.1631G>Ap.Arg544Gln | p.R544QNM_000388.3:c.1631G>A, NM_001178065.1:c.1661G>A, XM_005247836.1:c.1631G>A, XM_005247837.1:c.1148G>AVOUS04/14/2017
29CASREx7NM_000388.3:c.1752G>Ap.Lys584= | p.K584=NM_000388.3:c.1752G>A, NM_001178065.1:c.1782G>A, XM_005247836.1:c.1752G>A, XM_005247837.1:c.1269G>AVOUS10/22/2018
30CASREx7NM_000388.3:c.2034C>Tp.Arg678= | p.R678=VOUS04/02/2019
31CASREx7NM_000388.3:c.2064C>Tp.Phe688= | p.F688=NM_000388.3:c.2064C>T, NM_001178065.1:c.2094C>T, XM_005247836.1:c.2064C>T, XM_005247837.1:c.1581C>TVOUS11/11/2015
32CASREx7NM_000388.3:c.2108T>Cp.Leu703Pro | p.L703PNM_000388.3:c.2108T>C, NM_001178065.1:c.2138T>C, XM_005247836.1:c.2108T>C, XM_005247837.1:c.1625T>CVOUS06/02/2016
33CASREx7NM_000388.3:c.2229C>Tp.Leu743= | p.L743=NM_000388.3:c.2229C>T, NM_001178065.1:c.2259C>T, XM_005247836.1:c.2229C>T, XM_005247837.1:c.1746C>TVOUS12/06/2016
34CASREx7NM_000388.3:c.2244G>Cp.Pro748= | p.P748=NM_000388.3:c.2244G>C, NM_001178065.1:c.2274G>CBenign08/22/2013 
35CASREx7NM_000388.3:c.2570T>Cp.Ile857Thr | p.I857TNM_000388.3:c.2570T>C, NM_001178065.1:c.2600T>C, XM_005247836.1:c.2570T>C, XM_005247837.1:c.2087T>CVOUS05/25/2018
36CASREx7NM_000388.3:c.2610G>Ap.Glu870= | p.E870=NM_000388.3:c.2610G>A, NM_001178065.1:c.2640G>A, XM_005247836.1:c.2610G>A, XM_005247837.1:c.2127G>ABenign05/01/2015 
37CASREx7NM_000388.3:c.2730C>Ap.Pro910= | p.P910=NM_000388.3:c.2730C>A, NM_001178065.1:c.2760C>A, XM_005247836.1:c.2730C>A, XM_005247837.1:c.2247C>ABenign12/29/2014 
38CASREx7NM_000388.3:c.2901C>Ap.Ile967= | p.I967=NM_000388.3:c.2901C>A, NM_001178065.1:c.2931C>A, XM_005247836.1:c.2901C>A, XM_005247837.1:c.2418C>AVOUS05/05/2015
39CASREx7NM_000388.3:c.2956G>Tp.Ala986Ser | p.A986SNM_000388.3:c.2956G>T, NM_001178065.1:c.2986G>TBenign04/07/2014 
40CASREx7NM_000388.3:c.2968A>Gp.Arg990Gly | p.R990GNM_000388.3:c.2968A>G, NM_001178065.1:c.2998A>G, XM_005247836.1:c.2968A>G, XM_005247837.1:c.2485A>GBenign01/21/2015 
41CASREx7NM_000388.3:c.3016A>Tp.Thr1006Ser | p.T1006SNM_000388.3:c.3016A>T, NM_001178065.1:c.3046A>T, XM_005247836.1:c.3016A>T, XM_005247837.1:c.2533A>TVOUS10/29/2018
42CASREx7NM_000388.3:c.3031G>Cp.Glu1011Gln | p.E1011QNM_000388.3:c.3031G>C, NM_001178065.1:c.3061G>CBenign08/22/2013 
43CASREx7NM_000388.3:c.3091G>Ap.Gly1031Ser | p.G1031SNM_000388.3:c.3091G>A, NM_001178065.1:c.3121G>A, XM_005247836.1:c.3091G>A, XM_005247837.1:c.2608G>AVOUS02/16/2021
44CASREx7NM_000388.3:c.3132G>Ap.Val1044= | p.V1044=NM_000388.3:c.3132G>A, NM_001178065.1:c.3162G>A, XM_005247836.1:c.3132G>A, XM_005247837.1:c.2649G>AVOUS11/18/2015

* 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.