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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  
1IFT140Ex3NM_014714.3:c.-4C>TLikely benign06/11/2019 
2IFT140Ex4NM_014714.3:c.157G>Ap.Val53Met | p.V53MNM_014714.3:c.157G>A, XM_005255724.1:c.157G>A, XM_005255725.1:c.157G>A, XM_005255726.1:c.157G>A, XR_109241.1:n.60-1833C>T, XR_243333.1:n.-1833C>TVOUS08/02/2018
3IFT140Ex4NM_014714.3:c.322G>Ap.Val108Met | p.V108MNM_014714.3:c.322G>A, XM_005255724.1:c.322G>A, XM_005255725.1:c.322G>A, XM_005255726.1:c.322G>A, XR_109241.1:n.60-1998C>T, XR_243333.1:n.-1998C>TBenign02/28/2017 
4IFT140Ex6NM_014714.3:c.497T>Cp.Leu166Pro | p.L166PNM_014714.3:c.497T>C, XM_005255724.1:c.497T>C, XM_005255725.1:c.497T>C, XM_005255726.1:c.497T>C, XR_109241.1:n.59+11728A>GVOUS08/24/2015
5IFT140Ex7NM_014714.3:c.758G>Ap.Arg253Gln | p.R253QNM_014714.3:c.758G>A, XM_005255724.1:c.758G>A, XM_005255725.1:c.758G>A, XM_005255726.1:c.758G>A, XR_109241.1:n.59+9072C>TLikely benign09/24/2015 
6IFT140Ex11NM_014714.3:c.1272G>Ap.Pro424= | p.P424=NM_014714.3:c.1272G>A, XM_005255724.1:c.1272G>A, XM_005255725.1:c.1272G>A, XM_005255726.1:c.1272G>A, XR_109241.1:n.59+3719C>TVOUS09/16/2015
7IFT140Ex11NM_014714.3:c.1336A>Gp.Ile446Val | p.I446VNM_014714.3:c.1336A>G, XM_005255724.1:c.1336A>G, XM_005255725.1:c.1336A>G, XM_005255726.1:c.1336A>G, XR_109241.1:n.59+3655T>CLikely benign04/13/2015 
8IFT140Ex14NM_014714.3:c.1541T>Ap.Leu514His | p.L514HNM_014714.3:c.1541T>A, XM_005255724.1:c.1541T>A, XM_005255725.1:c.1541T>A, XM_005255726.1:c.1541T>ABenign09/08/2016 
9IFT140Ex14NM_014714.3:c.1541_1542delTCinsAANM_014714.3:c.1541_1542delinsAA, XM_005255724.1:c.1541_1542delinsAA, XM_005255725.1:c.1541_1542delinsAA, XM_005255726.1:c.1541_1542delinsAABenign05/16/2016 
10IFT140Ex14NM_014714.3:c.1542C>Ap.Leu514= | p.L514=NM_014714.3:c.1542C>A, XM_005255724.1:c.1542C>A, XM_005255725.1:c.1542C>A, XM_005255726.1:c.1542C>ABenign09/08/2016 
11IFT140Ex14NM_014714.3:c.1559C>Tp.Thr520Ile | p.T520INM_014714.3:c.1559C>T, XM_005255724.1:c.1559C>T, XM_005255725.1:c.1559C>T, XM_005255726.1:c.1559C>TVOUS10/21/2016
12IFT140Ex15NM_014714.3:c.1667A>Gp.His556Arg | p.H556RNM_014714.3:c.1667A>G, XM_005255724.1:c.1667A>G, XM_005255725.1:c.1667A>G, XM_005255726.1:c.1667A>GVOUS05/02/2016
13IFT140Ex15NM_014714.3:c.1727G>Ap.Arg576Gln | p.R576QNM_014714.3:c.1727G>A, XM_005255724.1:c.1727G>A, XM_005255725.1:c.1727G>A, XM_005255726.1:c.1727G>AVOUS07/25/2019
14IFT140Ex19NM_014714.3:c.2360A>Gp.Asp787Gly | p.D787GNM_001256541.1:c.*2948T>C, NM_014714.3:c.2360A>G, NM_024600.4:c.*2948T>C, NM_024600.5:c.*2948T>C, XM_005255724.1:c.2360A>G, XM_005255725.1:c.2360A>G, XM_005255726.1:c.2360A>GVOUS07/26/2017
15IFT140Ex20NM_014714.3:c.2504C>Tp.Ala835Val | p.A835VNM_001256541.1:c.-2447G>A, NM_014714.3:c.2504C>T, XM_005255724.1:c.2504C>TVOUS06/28/2018
16IFT140Ex20NM_014714.3:c.2509C>Gp.Arg837Gly | p.R837GNM_001256541.1:c.-2452G>C, NM_014714.3:c.2509C>G, XM_005255724.1:c.2509C>GVOUS01/23/2018
17IFT140Ex20NM_014714.3:c.2542C>Tp.Arg848Cys | p.R848CNM_001256541.1:c.-2485G>A, NM_014714.3:c.2542C>T, XM_005255724.1:c.2542C>TVOUS11/06/2015
18IFT140Ex20NM_014714.3:c.2551G>Ap.Val851Met | p.V851MNM_001256541.1:c.-2494C>T, NM_014714.3:c.2551G>A, XM_005255724.1:c.2551G>AVOUS12/04/2014
19IFT140Ex21NM_014714.3:c.2617G>Ap.Asp873Asn | p.D873NNM_001256541.1:c.-3101C>T, NM_014714.3:c.2617G>A, XM_005255724.1:c.2617G>AVOUS04/13/2017
20IFT140Ex21NM_014714.3:c.2755C>Gp.Arg919Gly | p.R919GNM_001256541.1:c.-3239G>C, NM_014714.3:c.2755C>G, XM_005255724.1:c.2755C>GVOUS08/30/2019
21IFT140Ex21NM_014714.3:c.2756G>Ap.Arg919Gln | p.R919QNM_001256541.1:c.-3240C>T, NM_014714.3:c.2756G>A, XM_005255724.1:c.2756G>AVOUS06/15/2017
22IFT140Ex22NM_014714.3:c.2773G>Ap.Glu925Lys | p.E925KNM_001256541.1:c.-3817C>T, NM_014714.3:c.2773G>A, XM_005255724.1:c.2773G>AVOUS05/18/2018
23IFT140Ex22NM_014714.3:c.2787G>Ap.Thr929= | p.T929=NM_001256541.1:c.-3831C>T, NM_014714.3:c.2787G>A, XM_005255724.1:c.2787G>AVOUS10/05/2018
24IFT140Ex22NM_014714.3:c.2829G>Ap.Pro943= | p.P943=NM_001256541.1:c.-3873C>T, NM_014714.3:c.2829G>A, XM_005255724.1:c.2829G>AVOUS12/09/2014
25IFT140Ex25NM_014714.3:c.3210G>Ap.Ala1070= | p.A1070=NM_001256541.1:c.-5251C>T, NM_014714.3:c.3210G>A, XM_005255724.1:c.3210G>AVOUS11/03/2014
26IFT140Ex28NM_014714.3:c.3675G>Tp.Leu1225= | p.L1225=NM_014714.3:c.3675G>T, XM_005255724.1:c.3675G>TVOUS06/08/2015
27IFT140Ex28NM_014714.3:c.3711C>Tp.Phe1237= | p.F1237=NM_014714.3:c.3711C>T, XM_005255724.1:c.3711C>TLikely benign06/28/2018 
28IFT140Ex28NM_014714.3:c.3830G>Ap.Arg1277Gln | p.R1277QNM_014714.3:c.3830G>A, XM_005255724.1:c.3830G>AVOUS07/28/2015
29IFT140Ex29NM_014714.3:c.3874-10A>CNM_014714.3:c.3874-10A>C, XM_005255724.1:c.3874-10A>CVOUS01/02/2018
30IFT140Ex29NM_014714.3:c.3988G>Ap.Ala1330Thr | p.A1330TNM_014714.3:c.3988G>A, XM_005255724.1:c.3988G>ABenign09/24/2015 
31IFT140Ex29NM_014714.3:c.3991C>Tp.Gln1331* | p.Q1331XNM_014714.3:c.3991C>T, XM_005255724.1:c.3991C>TPathogenic07/25/2019 
32IFT140Ex29NM_014714.3:c.3993G>Cp.Gln1331His | p.Q1331HNM_014714.3:c.3993G>C, XM_005255724.1:c.3993G>CLikely benign12/16/2016 
33IFT140Ex29NM_014714.3:c.4036C>Tp.Arg1346Cys | p.R1346CNM_014714.3:c.4036C>T, XM_005255724.1:c.4036C>TVOUS07/11/2017
34IFT140Ex29NM_014714.3:c.4040+10C>TNM_014714.3:c.4040+10C>T, XM_005255724.1:c.4040+10C>TBenign12/09/2014 
35IFT140Ex31NM_014714.3:c.*2G>ANM_014714.3:c.*2G>A, NM_016111.2:c.*1006C>T, NM_016111.3:c.*1006C>T, XM_005255724.1:c.*2G>A, XR_243325.1:n.*985C>TLikely benign06/18/2015 
36IFT140Ex31NM_014714.3:c.4208G>Ap.Arg1403Gln | p.R1403QNM_014714.3:c.4208G>A, NM_016111.2:c.*1189C>T, NM_016111.3:c.*1189C>T, XM_005255724.1:c.4208G>A, XR_243325.1:n.*1168C>TVOUS01/26/2017

* 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.