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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  
1DNAH11Ex1NM_001277115.1:c.100G>Tp.Glu34* | p.E34XNM_003777.3:c.100G>TBenign10/28/2013 
2DNAH11Ex1NM_001277115.1:c.100_101delGAinsTTNP_001264044.1:p.E34LBenign10/28/2013 
3DNAH11Ex1NM_001277115.1:c.101A>Tp.Glu34Val | p.E34VNM_003777.3:c.101A>TBenign10/28/2013 
4DNAH11Ex3NM_001277115.1:c.571C>Tp.His191Tyr | p.H191YNM_001277115.1:c.571C>T, NM_003777.3:c.571C>TVOUS11/13/2015
5DNAH11Ex3NM_001277115.1:c.576A>Gp.Ile192Met | p.I192MNM_001277115.1:c.576A>G, NM_003777.3:c.576A>GBenign06/27/2014 
6DNAH11Ex3NM_001277115.1:c.640A>Gp.Ile214Val | p.I214VNM_003777.3:c.640A>GBenign04/03/2014 
7DNAH11Ex4NM_001277115.1:c.705C>Tp.Asn235= | p.N235=Benign05/09/2013 
8DNAH11Ex5NM_001277115.1:c.939C>Tp.Ser313= | p.S313=NM_001277115.1:c.939C>T, NM_003777.3:c.939C>TBenign02/22/2016 
9DNAH11Ex7NM_001277115.1:c.1220A>Cp.Asp407Ala | p.D407ANM_001277115.1:c.1220A>C, NM_003777.3:c.1220A>CVOUS09/19/2015
10DNAH11Ex8NM_001277115.1:c.1426-9T>CNM_001277115.1:c.1426-9T>C, NM_003777.3:c.1426-9T>CBenign05/31/2016 
11DNAH11Ex9NM_001277115.1:c.1671A>Cp.Glu557Asp | p.E557DNM_001277115.1:c.1671A>C, NM_003777.3:c.1671A>CVOUS02/26/2018
12DNAH11Ex10NM_001277115.1:c.1720A>Gp.Ile574Val | p.I574VNM_001277115.1:c.1720A>G, NM_003777.3:c.1720A>GVOUS07/22/2014
13DNAH11Ex12NM_001277115.1:c.2038G>Ap.Asp680Asn | p.D680NNM_001277115.1:c.2038G>A, NM_003777.3:c.2038G>AVOUS01/23/2018
14DNAH11Ex12NM_001277115.1:c.2166A>Gp.Pro722= | p.P722=NM_001277115.1:c.2166A>G, NM_003777.3:c.2166A>GVOUS06/15/2018
15DNAH11Ex14NM_001277115.1:c.2454A>Gp.Ala818= | p.A818=NM_003777.3:c.2454A>GBenign04/05/2013 
16DNAH11Ex14NM_001277115.1:c.2486G>Ap.Arg829His | p.R829HNM_001277115.1:c.2486G>A, NM_003777.3:c.2486G>AVOUS01/23/2018
17DNAH11Ex14NM_001277115.1:c.2631C>Ap.Ile877= | p.I877=NM_001277115.1:c.2631C>A, NM_003777.3:c.2631C>AVOUS12/29/2016
18DNAH11Ex15NM_001277115.1:c.2682C>Tp.Leu894= | p.L894=NM_001277115.1:c.2682C>T, NM_003777.3:c.2682C>TVOUS03/05/2015
19DNAH11Ex15NM_001277115.1:c.2835A>Gp.Gln945= | p.Q945=NM_001277115.1:c.2835A>G, NM_003777.3:c.2835A>GBenign03/05/2015 
20DNAH11Ex16NM_001277115.1:c.3237T>Cp.Leu1079= | p.L1079=NM_001277115.1:c.3237T>C, NM_003777.3:c.3237T>CLikely benign04/21/2015 
21DNAH11Ex18NM_001277115.1:c.3466G>Ap.Gly1156Arg | p.G1156RNM_001277115.1:c.3466G>A, NM_003777.3:c.3466G>AVOUS06/02/2015
22DNAH11Ex21NM_001277115.1:c.3853-5C>GNM_003777.3:c.3853-5C>GVOUS10/16/2013
23DNAH11Ex21NM_001277115.1:c.4001T>Cp.Ile1334Thr | p.I1334TNM_001277115.1:c.4001T>C, NM_003777.3:c.4001T>CVOUS06/23/2015
24DNAH11Ex24NM_001277115.1:c.4294T>Gp.Leu1432Val | p.L1432VNM_001277115.1:c.4294T>G, NM_003777.3:c.4309T>GVOUS06/03/2015
25DNAH11Ex24NM_001277115.1:c.4377+15A>GBenign05/09/2013 
26DNAH11Ex25NM_001277115.1:c.4378-17_4378-16insATTTABenign05/09/2013 
27DNAH11Ex25NM_001277115.1:c.4430T>Cp.Val1477Ala | p.V1477ANM_001277115.1:c.4430T>C, NM_003777.3:c.4445T>CBenign07/01/2015 
28DNAH11Ex25NM_001277115.1:c.4449T>Cp.Ile1483= | p.I1483=Benign05/09/2013 
29DNAH11Ex28NM_001277115.1:c.4818-2A>GNM_001277115.1:c.4818-2A>G, NM_003777.3:c.4833-2A>GPathogenic07/12/2016 
30DNAH11Ex32NM_001277115.1:c.5490G>Ap.Leu1830= | p.L1830=NM_003777.3:c.5512G>ABenign04/05/2013 
31DNAH11Ex32NM_001277115.1:c.5501G>Ap.Arg1834His | p.R1834HNM_001277115.1:c.5501G>A, NM_003777.3:c.5523G>A, XM_005249899.1:c.374G>AVOUS02/26/2018
32DNAH11Ex32NM_001277115.1:c.5621+11A>TNM_003777.3:c.5643+11A>TBenign04/11/2013 
33DNAH11Ex33NM_001277115.1:c.5622-7C>AVOUS02/18/2014
34DNAH11Ex35NM_001277115.1:c.5936T>Cp.Leu1979Pro | p.L1979PNM_001277115.1:c.5936T>C, NM_003777.3:c.5958T>C, XM_005249899.1:c.809T>CVOUS04/30/2015
35DNAH11Ex39NM_001277115.1:c.6546G>Cp.Lys2182Asn | p.K2182NNM_001277115.1:c.6546G>C, NM_003777.3:c.6568G>C, XM_005249899.1:c.1419G>CLikely pathogenic10/02/2017 
36DNAH11Ex41NM_001277115.1:c.6727C>Tp.Arg2243* | p.R2243XNM_001277115.1:c.6727C>T, NM_003777.3:c.6749C>T, XM_005249899.1:c.1600C>TPathogenic07/12/2016 
37DNAH11Ex43NM_001277115.1:c.7039A>Gp.Thr2347Ala | p.T2347ANM_001277115.1:c.7039A>G, NM_003777.3:c.7061A>G, XM_005249899.1:c.1912A>GVOUS04/21/2015
38DNAH11Ex45NM_001277115.1:c.7290C>Tp.Phe2430= | p.F2430=NM_003777.3:c.7312C>TBenign04/11/2013 
39DNAH11Ex45NM_001277115.1:c.7325A>Gp.Lys2442Arg | p.K2442RNM_003777.3:c.7347A>GVOUS05/07/2014
40DNAH11Ex46NM_001277115.1:c.7442C>Tp.Thr2481Ile | p.T2481INM_001277115.1:c.7442C>T, NM_003777.3:c.7464C>T, XM_005249899.1:c.2315C>TVOUS08/26/2019
41DNAH11Ex47NM_001277115.1:c.7765G>Ap.Val2589Ile | p.V2589INM_001277115.1:c.7765G>A, NM_003777.3:c.7787G>A, XM_005249899.1:c.2638G>AVOUS07/17/2020
42DNAH11Ex50NM_001277115.1:c.8266T>Cp.Cys2756Arg | p.C2756RNM_001277115.1:c.8266T>C, NM_003777.3:c.8288T>C, XM_005249899.1:c.3139T>CBenign01/02/2018 
43DNAH11Ex51NM_001277115.1:c.8362C>Gp.His2788Asp | p.H2788DNM_001277115.1:c.8362C>G, NM_003777.3:c.8384C>G, XM_005249899.1:c.3235C>GBenign01/02/2018 
44DNAH11Ex57NM_001277115.1:c.9468T>Cp.Asp3156= | p.D3156=NM_001277115.1:c.9468T>C, NM_003777.3:c.9490T>C, XM_005249899.1:c.4341T>CBenign09/29/2016 
45DNAH11Ex58NM_001277115.1:c.9499A>Cp.Thr3167Pro | p.T3167PNM_001277115.1:c.9499A>C, NM_003777.3:c.9521A>C, XM_005249899.1:c.4372A>CVOUS06/26/2015
46DNAH11Ex58NM_001277115.1:c.9572C>Tp.Thr3191Ile | p.T3191INM_001277115.1:c.9572C>T, NM_003777.3:c.9594C>T, XM_005249899.1:c.4445C>TVOUS06/13/2016
47DNAH11Ex59NM_001277115.1:c.9640G>Ap.Ala3214Thr | p.A3214TNM_001277115.1:c.9640G>A, NM_003777.3:c.9662G>A, XM_005249899.1:c.4513G>AVOUS05/12/2014
48DNAH11Ex59NM_001277115.1:c.9706C>Tp.Arg3236* | p.R3236XNM_001277115.1:c.9706C>T, NM_003777.3:c.9728C>T, XM_005249899.1:c.4579C>TPathogenic10/08/2015 
49DNAH11Ex62NM_001277115.1:c.10041T>Ap.Asn3347Lys | p.N3347KNM_001277115.1:c.10041T>A, NM_003777.3:c.10063T>A, XM_005249899.1:c.4914T>AVOUS04/05/2017
50DNAH11Ex63NM_001277115.1:c.10221_10222delCTp.Cys3408Trpfs*54 | p.C3408WfsX54NM_001277115.1:c.10221_10222delCT, NM_003777.3:c.10243_10244delCT, XM_005249899.1:c.5094_5095delCTPathogenic10/02/2017 
51DNAH11Ex64NM_001277115.1:c.10399G>Ap.Ala3467Thr | p.A3467TNM_001277115.1:c.10399G>A, NM_003777.3:c.10421G>A, XM_005249899.1:c.5272G>ABenign07/18/2014 
52DNAH11Ex64NM_001277115.1:c.10472G>Ap.Arg3491His | p.R3491HNM_001277115.1:c.10472G>A, NM_003777.3:c.10494G>A, XM_005249899.1:c.5345G>AVOUS07/18/2014
53DNAH11Ex65NM_001277115.1:c.10631A>Gp.Glu3544Gly | p.E3544GNM_001277115.1:c.10631A>G, NM_003777.3:c.10653A>G, XM_005249899.1:c.5504A>GVOUS07/18/2018
54DNAH11Ex66NM_001277115.1:c.10739G>Ap.Arg3580His | p.R3580HNM_001277115.1:c.10739G>A, NM_003777.3:c.10761G>A, XM_005249899.1:c.5612G>ABenign06/01/2017 
55DNAH11Ex67NM_001277115.1:c.10976C>Tp.Ala3659Val | p.A3659VNM_003777.3:c.10998C>TBenign04/03/2014 
56DNAH11Ex69NM_001277115.1:c.11277C>Gp.Ile3759Met | p.I3759MNM_001277115.1:c.11277C>G, NM_003777.3:c.11299C>G, XM_005249899.1:c.6150C>GVOUS08/26/2019
57DNAH11Ex70NM_001277115.1:c.11402C>Gp.Pro3801Arg | p.P3801RNM_003777.3:c.11424C>GBenign04/03/2014 
58DNAH11Ex72NM_001277115.1:c.11691-20dupTNM_001277115.1:c.11691-20_11691-19insT, NM_003777.3:c.11713-20_11713-19insT, XM_005249899.1:c.6564-20_6564-19insTBenign02/09/2017 
59DNAH11Ex72NM_001277115.1:c.11691-19delAinsTGNM_001277115.1:c.11691-19delinsTG, NM_003777.3:c.11713-19delinsTG, XM_005249899.1:c.6564-19delinsTGVOUS05/29/2014
60DNAH11Ex72NM_001277115.1:c.11717C>Gp.Ala3906Gly | p.A3906GNM_001277115.1:c.11717C>G, NM_003777.3:c.11739C>G, XM_005249899.1:c.6590C>GVOUS05/29/2014
61DNAH11Ex72NM_001277115.1:c.11805G>Ap.Pro3935= | p.P3935=NM_001277115.1:c.11805G>A, NM_003777.3:c.11827G>A, XM_005249899.1:c.6678G>ALikely benign07/09/2015 
62DNAH11Ex77NM_001277115.1:c.12509C>Gp.Thr4170Ser | p.T4170SNM_001277115.1:c.12509C>G, NM_003777.3:c.12531C>G, XM_005249899.1:c.7382C>GVOUS07/09/2015
63DNAH11Ex77NM_001277115.1:c.12632C>Tp.Pro4211Leu | p.P4211LNM_001277115.1:c.12632C>T, NM_003777.3:c.12654C>T, XM_005249899.1:c.7505C>TVOUS03/15/2018
64DNAH11Ex80NM_001277115.1:c.13076G>Ap.Arg4359Gln | p.R4359QNM_001127370.1:c.*2960C>T, NM_001127370.2:c.*2960C>T, NM_001127371.1:c.*2960C>T, NM_001127371.2:c.*2960C>T, NM_001277115.1:c.13076G>A, NM_003777.3:c.13098G>A, NM_018719.3:c.*2960C>T, NM_018719.4:c.*2960C>T, XM_005249797.1:c.*2960C>T, XM_005249899.1:c.7949G>ABenign10/01/2015 
65DNAH11Ex82NM_001277115.1:c.13305C>Tp.Gly4435= | p.G4435=NM_001127370.1:c.*1314G>A, NM_001127370.2:c.*1314G>A, NM_001127371.1:c.*1314G>A, NM_001127371.2:c.*1314G>A, NM_001277115.1:c.13305C>T, NM_003777.3:c.13327C>T, NM_018719.3:c.*1314G>A, NM_018719.4:c.*1314G>A, XM_005249797.1:c.*1314G>A, XM_005249899.1:c.8178C>TVOUS10/22/2016
66DNAH11Ex82NM_001277115.1:c.13548G>Ap.Ala4516= | p.A4516=NM_001127370.1:c.*1071C>T, NM_001127370.2:c.*1071C>T, NM_001127371.1:c.*1071C>T, NM_001127371.2:c.*1071C>T, NM_001277115.1:c.13548G>A, NM_003777.3:c.13570G>A, NM_018719.3:c.*1071C>T, NM_018719.4:c.*1071C>T, XM_005249797.1:c.*1071C>T, XM_005249899.1:c.8421G>AVOUS07/17/2020

* 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.