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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  
1ZNF469Ex1NM_001127464.1:c.248C>Tp.Pro83Leu | p.P83LVOUS10/02/2014
2ZNF469Ex1NM_001127464.1:c.457C>Gp.Pro153Ala | p.P153ANM_001127464.1:c.457C>GVOUS07/14/2014
3ZNF469Ex1NM_001127464.1:c.725_726delGCinsTTp.Ser242Ile | p.S242INM_001127464.1:c.725_726delinsTTVOUS04/26/2018
4ZNF469Ex1NM_001127464.1:c.946G>Ap.Glu316Lys | p.E316KNM_001127464.1:c.946G>ABenign11/10/2015 
5ZNF469Ex1NM_001127464.1:c.1069T>Cp.Ser357Pro | p.S357PNM_001127464.1:c.1069T>CBenign07/14/2014 
6ZNF469Ex1NM_001127464.1:c.1088C>Tp.Ser363Leu | p.S363LNM_001127464.1:c.1088C>TVOUS02/09/2015
7ZNF469Ex1NM_001127464.1:c.1098A>Cp.Arg366Ser | p.R366SNM_001127464.1:c.1098A>CBenign07/14/2014 
8ZNF469Ex1NM_001127464.1:c.1143C>Ap.Pro381= | p.P381=NM_001127464.1:c.1143C>ABenign05/22/2015 
9ZNF469Ex1NM_001127464.1:c.1285G>Ap.Ala429Thr | p.A429TNM_001127464.1:c.1285G>ABenign08/03/2015 
10ZNF469Ex1NM_001127464.1:c.1483C>Tp.Pro495Ser | p.P495SNM_001127464.1:c.1483C>TVOUS08/01/2017
11ZNF469Ex1NM_001127464.1:c.1609G>Ap.Val537Met | p.V537MNM_001127464.1:c.1609G>AVOUS12/13/2016
12ZNF469Ex1NM_001127464.1:c.1615A>Tp.Ser539Cys | p.S539CNM_001127464.1:c.1615A>TVOUS07/19/2017
13ZNF469Ex1NM_001127464.1:c.1697C>Tp.Ala566Val | p.A566VNM_001127464.1:c.1697C>TBenign10/08/2015 
14ZNF469Ex1NM_001127464.1:c.1827G>Ap.Ser609= | p.S609=NM_001127464.1:c.1827G>ABenign12/29/2014 
15ZNF469Ex1NM_001127464.1:c.2017G>Ap.Ala673Thr | p.A673TNM_001127464.1:c.2017G>AVOUS12/24/2019
16ZNF469Ex1NM_001127464.1:c.2270T>Gp.Leu757Arg | p.L757RNM_001127464.1:c.2270T>GVOUS09/22/2015
17ZNF469Ex1NM_001127464.1:c.2297G>Ap.Arg766Gln | p.R766QNM_001127464.1:c.2297G>AVOUS04/04/2016
18ZNF469Ex1NM_001127464.1:c.2717C>Tp.Pro906Leu | p.P906LNM_001127464.1:c.2717C>TVOUS12/29/2014
19ZNF469Ex1NM_001127464.1:c.2814G>Ap.Ala938= | p.A938=NM_001127464.1:c.2814G>ABenign03/03/2016 
20ZNF469Ex1NM_001127464.1:c.2841G>Ap.Arg947= | p.R947=NM_001127464.1:c.2841G>AVOUS12/08/2016
21ZNF469Ex1NM_001127464.1:c.3153T>Cp.Ile1051= | p.I1051=NM_001127464.1:c.3153T>CBenign02/05/2016 
22ZNF469Ex2NM_001127464.1:c.3432T>Cp.Arg1144= | p.R1144=NM_001127464.1:c.3432T>CBenign12/28/2015 
23ZNF469Ex2NM_001127464.1:c.3438G>Ap.Pro1146= | p.P1146=NM_001127464.1:c.3438G>ABenign12/28/2015 
24ZNF469Ex2NM_001127464.1:c.3484A>Gp.Lys1162Glu | p.K1162ENM_001127464.1:c.3484A>GBenign12/28/2015 
25ZNF469Ex2NM_001127464.1:c.4259C>Tp.Pro1420Leu | p.P1420LNM_001127464.1:c.4259C>TBenign11/20/2015 
26ZNF469Ex2NM_001127464.1:c.4335T>Gp.Ser1445= | p.S1445=NM_001127464.1:c.4335T>GBenign11/20/2015 
27ZNF469Ex2NM_001127464.1:c.4337C>Tp.Ala1446Val | p.A1446VNM_001127464.1:c.4337C>TBenign10/08/2015 
28ZNF469Ex2NM_001127464.1:c.4338G>Ap.Ala1446= | p.A1446=NM_001127464.1:c.4338G>AVOUS03/09/2015
29ZNF469Ex2NM_001127464.1:c.4343G>Ap.Arg1448Lys | p.R1448KNM_001127464.1:c.4343G>AVOUS08/05/2015
30ZNF469Ex2NM_001127464.1:c.4388C>Tp.Thr1463Met | p.T1463MNM_001127464.1:c.4388C>TLikely benign08/22/2019 
31ZNF469Ex2NM_001127464.1:c.4472C>Tp.Ser1491Leu | p.S1491LNM_001127464.1:c.4472C>TVOUS08/19/2016
32ZNF469Ex2NM_001127464.1:c.4745G>Ap.Arg1582His | p.R1582HNM_001127464.1:c.4745G>AVOUS12/09/2015
33ZNF469Ex2NM_001127464.1:c.4868A>Gp.Gln1623Arg | p.Q1623RNM_001127464.1:c.4868A>GVOUS04/02/2015
34ZNF469Ex2NM_001127464.1:c.5256C>Gp.Pro1752= | p.P1752=NM_001127464.1:c.5256C>GVOUS09/22/2015
35ZNF469Ex2NM_001127464.1:c.6360delGNM_001127464.1:c.6360delGPathogenic09/15/2016 
36ZNF469Ex2NM_001127464.1:c.7183C>Ap.Pro2395Thr | p.P2395TNM_001127464.1:c.7183C>AVOUS07/09/2015
37ZNF469Ex2NM_001127464.1:c.7554delCNM_001127464.1:c.7554delCPathogenic10/12/2016 
38ZNF469Ex2NM_001127464.1:c.7591A>Gp.Lys2531Glu | p.K2531ENM_001127464.1:c.7591A>GBenign12/20/2016 
39ZNF469Ex2NM_001127464.1:c.7897G>Ap.Gly2633Ser | p.G2633SNM_001127464.1:c.7897G>AVOUS07/14/2014
40ZNF469Ex2NM_001127464.1:c.7992G>Ap.Pro2664= | p.P2664=NM_001127464.1:c.7992G>ABenign07/14/2014 
41ZNF469Ex2NM_001127464.1:c.8009T>Ap.Leu2670Gln | p.L2670QNM_001127464.1:c.8009T>ABenign06/24/2016 
42ZNF469Ex2NM_001127464.1:c.8341C>Gp.Pro2781Ala | p.P2781ANM_001127464.1:c.8341C>GVOUS03/18/2015
43ZNF469Ex2NM_001127464.1:c.8393A>Gp.Asp2798Gly | p.D2798GNM_001127464.1:c.8393A>GVOUS04/04/2016
44ZNF469Ex2NM_001127464.1:c.8405G>Cp.Gly2802Ala | p.G2802ANM_001127464.1:c.8405G>CVOUS07/14/2014
45ZNF469Ex2NM_001127464.1:c.8520C>Tp.Arg2840= | p.R2840=NM_001127464.1:c.8520C>TBenign06/24/2016 
46ZNF469Ex2NM_001127464.1:c.8543A>Gp.His2848Arg | p.H2848RNM_001127464.1:c.8543A>GBenign07/14/2014 
47ZNF469Ex2NM_001127464.1:c.8704G>Tp.Asp2902Tyr | p.D2902YNM_001127464.1:c.8704G>TVOUS01/23/2017
48ZNF469Ex2NM_001127464.1:c.9041G>Ap.Arg3014His | p.R3014HNM_001127464.1:c.9041G>ABenign02/11/2016 
49ZNF469Ex2NM_001127464.1:c.9047C>Tp.Thr3016Met | p.T3016MNM_001127464.1:c.9047C>TVOUS09/06/2016
50ZNF469Ex2NM_001127464.1:c.9184C>Tp.Arg3062* | p.R3062XNM_001127464.1:c.9184C>TPathogenic06/08/2015 
51ZNF469Ex2NM_001127464.1:c.9432C>Tp.Ala3144= | p.A3144=NM_001127464.1:c.9432C>TVOUS10/17/2017
52ZNF469Ex2NM_001127464.1:c.9579C>Tp.Ser3193= | p.S3193=NM_001127464.1:c.9579C>TVOUS06/06/2017
53ZNF469Ex2NM_001127464.1:c.10242G>Cp.Arg3414Ser | p.R3414SNM_001127464.1:c.10242G>CBenign04/02/2015 
54ZNF469Ex2NM_001127464.1:c.10277G>Ap.Arg3426Gln | p.R3426QNM_001127464.1:c.10277G>ALikely benign12/16/2016 
55ZNF469Ex2NM_001127464.1:c.10498G>Ap.Glu3500Lys | p.E3500KNM_001127464.1:c.10498G>AVOUS12/09/2016
56ZNF469Ex2NM_001127464.1:c.10599C>Tp.Ala3533= | p.A3533=NM_001127464.1:c.10599C>TVOUS12/29/2014
57ZNF469Ex2NM_001127464.1:c.10616G>Ap.Gly3539Glu | p.G3539ENM_001127464.1:c.10616G>AVOUS09/15/2016
58ZNF469Ex2NM_001127464.1:c.10711G>Tp.Ala3571Ser | p.A3571SNM_001127464.1:c.10711G>TBenign06/03/2015 
59ZNF469Ex2NM_001127464.1:c.10891G>Ap.Gly3631Arg | p.G3631RNM_001127464.1:c.10891G>ABenign05/22/2015 
60ZNF469Ex2NM_001127464.1:c.10906A>Gp.Thr3636Ala | p.T3636ANM_001127464.1:c.10906A>GBenign05/22/2015 
61ZNF469Ex2NM_001127464.1:c.11064G>Tp.Glu3688Asp | p.E3688DNM_001127464.1:c.11064G>TVOUS08/22/2019
62ZNF469Ex2NM_001127464.1:c.11193C>Tp.Ser3731= | p.S3731=NM_001127464.1:c.11193C>TVOUS02/11/2016
63ZNF469Ex2NM_001127464.1:c.11194G>Ap.Glu3732Lys | p.E3732KNM_001127464.1:c.11194G>AVOUS10/08/2015
64ZNF469Ex2NM_001127464.1:c.11412_11421delGAGCTTCGGGp.Ser3805Glufs*105 | p.S3805EfsX105NM_001127464.1:c.11412_11421delGAGCTTCGGGLikely pathogenic12/05/2017 
65ZNF469Ex2NM_001127464.1:c.11687C>Tp.Thr3896Met | p.T3896MNM_001127464.1:c.11687C>TVOUS12/24/2019
66ZNF469Ex1NM_001127464.2:c.1615A>Tp.Ser539Cys | p.S539CVOUS12/28/2020
67ZNF469Ex1NM_001127464.2:c.2717C>Tp.Pro906Leu | p.P906LNM_001127464.1:c.2717C>TLikely benign01/19/2021 
68ZNF469Ex2NM_001127464.2:c.5321A>Gp.His1774Arg | p.H1774RNM_001127464.1:c.5321A>GVOUS03/26/2020

* 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.