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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  
1DNAH5Ex3NM_001369.2:c.271G>Tp.Glu91* | p.E91XNM_001369.2:c.271G>T, XM_005248262.1:c.226G>TPathogenic02/27/2018 
2DNAH5Ex4NM_001369.2:c.297A>Tp.Gly99= | p.G99=NM_001369.2:c.297A>T, XM_005248262.1:c.252A>TVOUS04/01/2015
3DNAH5Ex10NM_001369.2:c.1206T>Ap.Asn402Lys | p.N402KNM_001369.2:c.1206T>A, XM_005248262.1:c.1161T>AVOUS12/23/2014
4DNAH5Ex10NM_001369.2:c.1251C>Tp.Thr417= | p.T417=NM_001369.2:c.1251C>T, XM_005248262.1:c.1206C>TLikely benign10/30/2014 
5DNAH5Ex11NM_001369.2:c.1329G>Ap.Gln443= | p.Q443=NM_001369.2:c.1329G>A, XM_005248262.1:c.1284G>AVOUS08/06/2019
6DNAH5Ex12NM_001369.2:c.1585C>Tp.Arg529Trp | p.R529WNM_001369.2:c.1585C>T, XM_005248262.1:c.1540C>TVOUS02/24/2015
7DNAH5Ex14NM_001369.2:c.1955G>Ap.Ser652Asn | p.S652NNM_001369.2:c.1955G>AVOUS05/07/2014
8DNAH5Ex15NM_001369.2:c.2253C>Ap.Asn751Lys | p.N751KNM_001369.2:c.2253C>A, XM_005248262.1:c.2208C>ABenign12/23/2014 
9DNAH5Ex16NM_001369.2:c.2306C>Tp.Ala769Val | p.A769VNM_001369.2:c.2306C>T, XM_005248262.1:c.2261C>TVOUS08/07/2018
10DNAH5Ex16NM_001369.2:c.2355C>Tp.Leu785= | p.L785=NM_001369.2:c.2355C>T, XM_005248262.1:c.2310C>TLikely benign10/30/2014 
11DNAH5Ex20NM_001369.2:c.3021G>Tp.Leu1007Phe | p.L1007FNM_001369.2:c.3021G>T, XM_005248262.1:c.2976G>TBenign01/15/2019 
12DNAH5Ex22NM_001369.2:c.3363T>Gp.Ser1121= | p.S1121=NM_001369.2:c.3363T>G, XM_005248262.1:c.3318T>GBenign02/24/2015 
13DNAH5Ex24NM_001369.2:c.3650T>Cp.Ile1217Thr | p.I1217TNM_001369.2:c.3650T>C, XM_005248262.1:c.3605T>CLikely benign08/06/2019 
14DNAH5Ex24NM_001369.2:c.3734G>Ap.Arg1245His | p.R1245HNM_001369.2:c.3734G>A, XM_005248262.1:c.3689G>AVOUS03/13/2015
15DNAH5Ex24NM_001369.2:c.3775G>Ap.Ala1259Thr | p.A1259TNM_001369.2:c.3775G>A, XM_005248262.1:c.3730G>AVOUS10/31/2014
16DNAH5Ex24NM_001369.2:c.3792G>Cp.Arg1264Ser | p.R1264SNM_001369.2:c.3792G>C, XM_005248262.1:c.3747G>CVOUS10/18/2017
17DNAH5Ex28NM_001369.2:c.4361G>Ap.Arg1454Gln | p.R1454QNM_001369.2:c.4361G>A, XM_005248262.1:c.4316G>AVOUS06/09/2016
18DNAH5Ex30NM_001369.2:c.4797-1G>CNM_001369.2:c.4797-1G>C, XM_005248262.1:c.4752-1G>CPathogenic11/16/2017 
19DNAH5Ex32NM_001369.2:c.5266G>Ap.Glu1756Lys | p.E1756KNM_001369.2:c.5266G>A, XM_005248262.1:c.5221G>ALikely benign11/09/2016 
20DNAH5Ex33NM_001369.2:c.5396C>Tp.Ser1799Leu | p.S1799LNM_001369.2:c.5396C>T, XM_005248262.1:c.5351C>TVOUS02/18/2014
21DNAH5Ex36NM_001369.2:c.5883-6A>GNM_001369.2:c.5883-6A>G, XM_005248262.1:c.5838-6A>GVOUS07/29/2014
22DNAH5Ex36NM_001369.2:c.5931C>Tp.Ala1977= | p.A1977=NM_001369.2:c.5931C>T, XM_005248262.1:c.5886C>TVOUS01/22/2016
23DNAH5Ex41NM_001369.2:c.6752C>Tp.Thr2251Met | p.T2251MNM_001369.2:c.6752C>T, XM_005248262.1:c.6707C>TVOUS11/09/2016
24DNAH5Ex45NM_001369.2:c.7444C>Tp.Arg2482Trp | p.R2482WNM_001369.2:c.7444C>T, XM_005248262.1:c.7399C>TVOUS12/29/2016
25DNAH5Ex45NM_001369.2:c.7531C>Tp.Arg2511Trp | p.R2511WNM_001369.2:c.7531C>T, XM_005248262.1:c.7486C>TVOUS07/29/2014
26DNAH5Ex45NM_001369.2:c.7609+19C>TNM_001369.2:c.7609+19C>T, XM_005248262.1:c.7564+19C>TBenign03/16/2016 
27DNAH5Ex46NM_001369.2:c.7752+10T>CNM_001369.2:c.7752+10T>C, XM_005248262.1:c.7707+10T>CBenign02/24/2015 
28DNAH5Ex48NM_001369.2:c.7888-6dupTNM_001369.2:c.7888-6_7888-5insT, XM_005248262.1:c.7843-6_7843-5insTLikely benign07/10/2015 
29DNAH5Ex48NM_001369.2:c.7998G>Tp.Glu2666Asp | p.E2666DNM_001369.2:c.7998G>T, XM_005248262.1:c.7953G>TVOUS04/18/2019
30DNAH5Ex48NM_001369.2:c.8002G>Ap.Gly2668Arg | p.G2668RNM_001369.2:c.8002G>A, XM_005248262.1:c.7957G>AVOUS11/09/2016
31DNAH5Ex49NM_001369.2:c.8030G>Ap.Arg2677Gln | p.R2677QNM_001369.2:c.8030G>A, XM_005248262.1:c.7985G>AVOUS03/22/2016
32DNAH5Ex52NM_001369.2:c.8757G>Cp.Glu2919Asp | p.E2919DNM_001369.2:c.8757G>C, XM_005248262.1:c.8712G>CBenign07/22/2014 
33DNAH5Ex53NM_001369.2:c.8845C>Gp.Gln2949Glu | p.Q2949ENM_001369.2:c.8845C>GVOUS12/29/2015
34DNAH5Ex53NM_001369.2:c.8925C>Tp.Tyr2975= | p.Y2975=NM_001369.2:c.8925C>T, XM_005248262.1:c.8880C>TVOUS02/11/2016
35DNAH5Ex55NM_001369.2:c.9203A>Gp.Glu3068Gly | p.E3068GNM_001369.2:c.9203A>G, XM_005248262.1:c.9158A>GVOUS03/06/2018
36DNAH5Ex55NM_001369.2:c.9355A>Gp.Lys3119Glu | p.K3119ENM_001369.2:c.9355A>G, XM_005248262.1:c.9310A>GBenign05/27/2014 
37DNAH5Ex58NM_001369.2:c.9721-12A>TBenign02/18/2014 
38DNAH5Ex58NM_001369.2:c.9896A>Gp.Gln3299Arg | p.Q3299RNM_001369.2:c.9896A>G, XM_005248262.1:c.9851A>GVOUS02/18/2014
39DNAH5Ex59NM_001369.2:c.9898-6C>TNM_001369.2:c.9898-6C>T, XM_005248262.1:c.9853-6C>TVOUS10/22/2016
40DNAH5Ex61NM_001369.2:c.10294G>Tp.Val3432Leu | p.V3432LNM_001369.2:c.10294G>T, XM_005248262.1:c.10249G>TLikely benign05/16/2018 
41DNAH5Ex61NM_001369.2:c.10323G>Ap.Met3441Ile | p.M3441INM_001369.2:c.10323G>A, XM_005248262.1:c.10278G>ALikely benign05/16/2018 
42DNAH5Ex63NM_001369.2:c.10784C>Tp.Thr3595Met | p.T3595MNM_001369.2:c.10784C>T, XM_005248262.1:c.10739C>TVOUS06/23/2016
43DNAH5Ex63NM_001369.2:c.10815delTp.Pro3606Hisfs*23 | p.P3606HfsX23NM_001369.2:c.10815delT, XM_005248262.1:c.10770delTPathogenic03/24/2020 
44DNAH5Ex64NM_001369.2:c.11028+5G>AVOUS03/24/2020
45DNAH5Ex65NM_001369.2:c.11140A>Gp.Ile3714Val | p.I3714VNM_001369.2:c.11140A>G, XM_005248262.1:c.11095A>GVOUS03/06/2018
46DNAH5Ex66NM_001369.2:c.11234A>Gp.His3745Arg | p.H3745RNM_001369.2:c.11234A>G, XM_005248262.1:c.11189A>GVOUS06/06/2014
47DNAH5Ex66NM_001369.2:c.11322C>Tp.Ser3774= | p.S3774=NM_001369.2:c.11322C>T, XM_005248262.1:c.11277C>TVOUS07/29/2014
48DNAH5Ex67NM_001369.2:c.11456-3C>TNM_001369.2:c.11456-3C>T, XM_005248262.1:c.11411-3C>TVOUS01/30/2017
49DNAH5Ex72NM_001369.2:c.12346A>Gp.Ile4116Val | p.I4116VNM_001369.2:c.12346A>G, XM_005248262.1:c.12301A>GLikely benign05/16/2018 
50DNAH5Ex73NM_001369.2:c.12655G>Ap.Ala4219Thr | p.A4219TNM_001369.2:c.12655G>A, XM_005248262.1:c.12610G>AVOUS07/22/2014
51DNAH5Ex75NM_001369.2:c.13070C>Gp.Ala4357Gly | p.A4357GNM_001369.2:c.13070C>G, XM_005248262.1:c.13025C>GVOUS11/09/2016
52DNAH5Ex79NM_001369.2:c.13753C>Ap.Pro4585Thr | p.P4585TNM_001369.2:c.13753C>A, XM_005248262.1:c.13708C>AVOUS08/07/2018

* 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.