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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  
1HCN4Ex1NM_005477.2:c.36C>Gp.Leu12= | p.L12=NM_005477.2:c.36C>GBenign11/12/2013 
2HCN4Ex1NM_005477.2:c.60G>Ap.Gly20= | p.G20=NM_005477.2:c.60G>AVOUS04/22/2020
3HCN4Ex1NM_005477.2:c.107G>Ap.Gly36Glu | p.G36ENM_005477.2:c.107G>ABenign04/07/2016 
4HCN4Ex1NM_005477.2:c.119G>Ap.Arg40His | p.R40HNM_005477.2:c.119G>AVOUS06/13/2019
5HCN4Ex1NM_005477.2:c.321C>Tp.Gly107= | p.G107=NM_005477.2:c.321C>TVOUS01/16/2017
6HCN4Ex1NM_005477.2:c.394A>Cp.Ile132Leu | p.I132LNM_005477.2:c.394A>CVOUS06/11/2018
7HCN4Ex1NM_005477.2:c.433C>Gp.Pro145Ala | p.P145ANM_005477.2:c.433C>GVOUS03/31/2016
8HCN4Ex1NM_005477.2:c.458A>Gp.Glu153Gly | p.E153GNM_005477.2:c.458A>GVOUS02/18/2020
9HCN4Ex1NM_005477.2:c.546C>Gp.Pro182= | p.P182=NM_005477.2:c.546C>GBenign11/24/2015 
10HCN4Ex1NM_005477.2:c.549G>Tp.Ser183= | p.S183=NM_005477.2:c.549G>TVOUS06/19/2019
11HCN4Ex1NM_005477.2:c.581C>Tp.Ala194Val | p.A194VNM_005477.2:c.581C>TVOUS04/25/2019
12HCN4Ex1NM_005477.2:c.621C>Gp.Arg207= | p.R207=NM_005477.2:c.621C>GVOUS07/13/2015
13HCN4Ex1NM_005477.2:c.743A>Gp.Lys248Arg | p.K248RNM_005477.2:c.743A>GVOUS06/10/2016
14HCN4Ex2NM_005477.2:c.1014G>Cp.Leu338= | p.L338=NM_005477.2:c.1014G>CVOUS11/01/2019
15HCN4Ex3NM_005477.2:c.1356C>Tp.Ser452= | p.S452=NM_005477.2:c.1356C>TVOUS08/19/2020
16HCN4Ex3NM_005477.2:c.1371+8C>TNM_005477.2:c.1371+8C>TBenign01/07/2016 
17HCN4Ex3NM_005477.2:c.1371+9G>ANM_005477.2:c.1371+9G>AVOUS09/27/2013
18HCN4Ex4NM_005477.2:c.1444G>Ap.Gly482Arg | p.G482RNM_005477.2:c.1444G>ALikely pathogenic06/09/2016 
19HCN4Ex4NM_005477.2:c.1459G>Ap.Val487Met | p.V487MNM_005477.2:c.1459G>AVOUS04/16/2014
20HCN4Ex4NM_005477.2:c.1462G>Ap.Gly488Ser | p.G488SNM_005477.2:c.1462G>AVOUS11/22/2015
21HCN4Ex4NM_005477.2:c.1518C>Tp.Tyr506= | p.Y506=NM_005477.2:c.1518C>TBenign03/12/2015 
22HCN4Ex4NM_005477.2:c.1590+5G>TNM_005477.2:c.1590+5G>TVOUS02/11/2019
23HCN4Ex5NM_005477.2:c.1641C>Tp.Thr547= | p.T547=NM_005477.2:c.1641C>TVOUS09/21/2017
24HCN4Ex5NM_005477.2:c.1653C>Ap.Ile551= | p.I551=NM_005477.2:c.1653C>ALikely benign04/30/2018 
25HCN4Ex5NM_005477.2:c.1703G>Cp.Ser568Thr | p.S568TNM_005477.2:c.1703G>CLikely benign09/17/2015 
26HCN4Ex6NM_005477.2:c.1738-6C>TVOUS07/14/2020
27HCN4Ex6NM_005477.2:c.1815G>Ap.Thr605= | p.T605=NM_005477.2:c.1815G>AVOUS09/15/2015
28HCN4Ex6NM_005477.2:c.1839C>Tp.Phe613= | p.F613=NM_005477.2:c.1839C>TBenign05/14/2015 
29HCN4Ex6NM_005477.2:c.1915G>Ap.Val639Met | p.V639MNM_005477.2:c.1915G>AVOUS11/30/2014
30HCN4Ex6NM_005477.2:c.1962C>Tp.Asp654= | p.D654=VOUS12/30/2019
31HCN4Ex6NM_005477.2:c.1978+3G>TNM_005477.2:c.1978+3G>TBenign04/19/2016 
32HCN4Ex6NM_005477.2:c.1978+10C>GVOUS01/30/2020
33HCN4Ex7NM_005477.2:c.2025C>Tp.Ala675= | p.A675=NM_005477.2:c.2025C>TVOUS01/09/2017
34HCN4Ex7NM_005477.2:c.2055C>Tp.Ser685= | p.S685=NM_005477.2:c.2055C>TVOUS11/18/2015
35HCN4Ex7NM_005477.2:c.2143+5G>TNM_005477.2:c.2143+5G>TVOUS10/24/2018
36HCN4Ex8NM_005477.2:c.*8C>TNM_005477.2:c.*8C>TVOUS08/30/2016
37HCN4Ex8NM_005477.2:c.2181C>Tp.His727= | p.H727=NM_005477.2:c.2181C>TVOUS07/12/2016
38HCN4Ex8NM_005477.2:c.2197G>Ap.Val733Ile | p.V733INM_005477.2:c.2197G>AVOUS07/20/2015
39HCN4Ex8NM_005477.2:c.2273G>Ap.Arg758His | p.R758HNM_005477.2:c.2273G>AVOUS07/25/2014
40HCN4Ex8NM_005477.2:c.2275G>Ap.Val759Ile | p.V759INM_005477.2:c.2275G>ABenign07/23/2015 
41HCN4Ex8NM_005477.2:c.2313C>Tp.Pro771= | p.P771=NM_005477.2:c.2313C>TVOUS03/17/2020
42HCN4Ex8NM_005477.2:c.2370T>Cp.Ser790= | p.S790=NM_005477.2:c.2370T>CVOUS08/29/2017
43HCN4Ex8NM_005477.2:c.2383C>Tp.Leu795Phe | p.L795FNM_005477.2:c.2383C>TVOUS01/29/2018
44HCN4Ex8NM_005477.2:c.2466G>Ap.Thr822= | p.T822=NM_005477.2:c.2466G>AVOUS11/01/2018
45HCN4Ex8NM_005477.2:c.2523G>Ap.Ser841= | p.S841=NM_005477.2:c.2523G>AVOUS04/16/2015
46HCN4Ex8NM_005477.2:c.2527G>Ap.Ala843Thr | p.A843TNM_005477.2:c.2527G>AVOUS06/28/2018
47HCN4Ex8NM_005477.2:c.2553A>Gp.Thr851= | p.T851=NM_005477.2:c.2553A>GVOUS03/19/2015
48HCN4Ex8NM_005477.2:c.2555C>Tp.Pro852Leu | p.P852LNM_005477.2:c.2555C>TVOUS07/29/2016
49HCN4Ex8NM_005477.2:c.2556G>Ap.Pro852= | p.P852=NM_005477.2:c.2556G>ABenign07/05/2013 
50HCN4Ex8NM_005477.2:c.2601C>Ap.Ala867= | p.A867=NM_005477.2:c.2601C>ABenign11/25/2014 
51HCN4Ex8NM_005477.2:c.2638T>Cp.Ser880Pro | p.S880PNM_005477.2:c.2638T>CVOUS03/26/2019
52HCN4Ex8NM_005477.2:c.2648C>Gp.Pro883Arg | p.P883RNM_005477.2:c.2648C>GBenign05/24/2016 
53HCN4Ex8NM_005477.2:c.2657C>Tp.Ala886Val | p.A886VNM_005477.2:c.2657C>TBenign11/25/2014 
54HCN4Ex8NM_005477.2:c.2668C>Tp.Pro890Ser | p.P890SNM_005477.2:c.2668C>TVOUS10/16/2018
55HCN4Ex8NM_005477.2:c.2673G>Ap.Ser891= | p.S891=NM_005477.2:c.2673G>ABenign11/11/2015 
56HCN4Ex8NM_005477.2:c.2694C>Tp.Gly898= | p.G898=NM_005477.2:c.2694C>TLikely benign02/04/2019 
57HCN4Ex8NM_005477.2:c.2739G>Ap.Ala913= | p.A913=NM_005477.2:c.2739G>AVOUS12/05/2019
58HCN4Ex8NM_005477.2:c.2800C>Tp.Arg934Cys | p.R934CNM_005477.2:c.2800C>TVOUS10/30/2017
59HCN4Ex8NM_005477.2:c.2801G>Ap.Arg934His | p.R934HNM_005477.2:c.2801G>AVOUS11/04/2014
60HCN4Ex8NM_005477.2:c.2804C>Tp.Ser935Phe | p.S935FNM_005477.2:c.2804C>TVOUS06/10/2016
61HCN4Ex8NM_005477.2:c.2831C>Tp.Ala944Val | p.A944VNM_005477.2:c.2831C>TBenign03/02/2015 
62HCN4Ex8NM_005477.2:c.2864C>Tp.Pro955Leu | p.P955LNM_005477.2:c.2864C>TVOUS04/19/2016
63HCN4Ex8NM_005477.2:c.2900C>Tp.Ser967Phe | p.S967FNM_005477.2:c.2900C>TVOUS07/08/2020
64HCN4Ex8NM_005477.2:c.2904G>Ap.Pro968= | p.P968=NM_005477.2:c.2904G>AVOUS07/13/2020
65HCN4Ex8NM_005477.2:c.2979G>Ap.Thr993= | p.T993=NM_005477.2:c.2979G>ABenign08/06/2014 
66HCN4Ex8NM_005477.2:c.3010C>Tp.Pro1004Ser | p.P1004SNM_005477.2:c.3010C>TVOUS09/06/2016
67HCN4Ex8NM_005477.2:c.3033T>Gp.Ser1011= | p.S1011=NM_005477.2:c.3033T>GBenign06/02/2015 
68HCN4Ex8NM_005477.2:c.3049G>Ap.Val1017Ile | p.V1017INM_005477.2:c.3049G>AVOUS11/21/2018
69HCN4Ex8NM_005477.2:c.3116C>Gp.Pro1039Arg | p.P1039RNM_005477.2:c.3116C>GVOUS08/29/2017
70HCN4Ex8NM_005477.2:c.3117G>Ap.Pro1039= | p.P1039=NM_005477.2:c.3117G>AVOUS10/13/2016
71HCN4Ex8NM_005477.2:c.3130C>Tp.Arg1044Trp | p.R1044WNM_005477.2:c.3130C>TVOUS08/29/2019
72HCN4Ex8NM_005477.2:c.3131G>Ap.Arg1044Gln | p.R1044QNM_005477.2:c.3131G>AVOUS09/01/2014
73HCN4Ex8NM_005477.2:c.3147C>Tp.His1049= | p.H1049=NM_005477.2:c.3147C>TVOUS04/02/2019
74HCN4Ex8NM_005477.2:c.3197C>Ap.Pro1066His | p.P1066HNM_005477.2:c.3197C>AVOUS06/24/2014
75HCN4Ex8NM_005477.2:c.3288C>Tp.Asp1096= | p.D1096=NM_005477.2:c.3288C>TBenign04/19/2016 
76HCN4Ex8NM_005477.2:c.3304C>Tp.Arg1102Cys | p.R1102CNM_005477.2:c.3304C>TVOUS10/25/2016
77HCN4Ex8NM_005477.2:c.3337A>Gp.Met1113Val | p.M1113VNM_005477.2:c.3337A>GBenign01/26/2016 
78HCN4Ex8NM_005477.2:c.3350C>Tp.Pro1117Leu | p.P1117LNM_005477.2:c.3350C>TBenign01/19/2015 
79HCN4Ex8NM_005477.2:c.3363G>Cp.Arg1121Ser | p.R1121SNM_005477.2:c.3363G>CVOUS05/27/2015
80HCN4Ex8NM_005477.2:c.3383G>Tp.Gly1128Val | p.G1128VVOUS02/17/2014
81HCN4Ex8NM_005477.2:c.3577G>Cp.Glu1193Gln | p.E1193QNM_005477.2:c.3577G>CLikely benign11/18/2019 
82HCN4Ex8NM_005477.2:c.3581C>Tp.Pro1194Leu | p.P1194LNM_005477.2:c.3581C>TVOUS04/11/2019
83HCN4Ex8NM_005477.2:c.3586C>Ap.Arg1196Ser | p.R1196SNM_005477.2:c.3586C>AVOUS08/19/2020
84HCN4Ex8NM_005477.2:c.3587G>Ap.Arg1196His | p.R1196HNM_005477.2:c.3587G>ABenign02/10/2015 
85HCN4Ex8NM_005477.2:c.3596T>Ap.Leu1199Gln | p.L1199QNM_005477.2:c.3596T>AVOUS06/13/2017
86HCN4Ex8NM_005477.2:c.3600A>Gp.Pro1200= | p.P1200=NM_005477.2:c.3600A>GBenign01/26/2016 

* 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.