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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  
1DBTEx1NM_001918.3:c.5C>Tp.Ala2Val | p.A2VNM_001918.2:c.5C>T, NM_001918.3:c.5C>TVOUS06/22/2015
2DBTEx1NM_001918.3:c.51+1G>TNM_001918.2:c.51+1G>T, NM_001918.3:c.51+1G>TPathogenic06/22/2015 
3DBTEx1NM_001918.3:c.51+5G>CNM_001918.2:c.51+5G>C, NM_001918.3:c.51+5G>CVOUS09/04/2013
4DBTEx2NM_001918.3:c.52-27T>ANM_001918.2:c.52-27T>A, NM_001918.3:c.52-27T>AVOUS09/04/2013
5DBTEx2NM_001918.3:c.61C>TNM_001918.2:c.61C>T, NM_001918.3:c.61C>TVOUS09/04/2013
6DBTEx2NM_001918.3:c.75_76delATNM_001918.2:c.75_76delAT, NM_001918.3:c.75_76delATPathogenic** 
7DBTEx2NM_001918.3:c.76T>Cp.Cys26Arg | p.C26RNM_001918.2:c.76T>C, NM_001918.3:c.76T>CBenign03/04/2014 
8DBTEx2NM_001918.3:c.126T>Gp.Tyr42* | p.Y42XNM_001918.2:c.126T>G, NM_001918.3:c.126T>G, XM_005270543.1:c.126T>G, XM_005270544.1:c.126T>G, XM_005270545.1:c.-418T>GPathogenic08/26/2014 
9DBTEx2NM_001918.3:c.137A>Gp.Lys46Arg | p.K46RNM_001918.2:c.137A>G, NM_001918.3:c.137A>G, XM_005270543.1:c.137A>G, XM_005270544.1:c.137A>G, XM_005270545.1:c.-407A>GVOUS02/04/2015
10DBTEx2NM_001918.3:c.175+37G>ANM_001918.2:c.175+37G>A, NM_001918.3:c.175+37G>ABenign09/06/2013 
11DBTEx3NM_001918.3:c.209C>Tp.Ser70Leu | p.S70LNM_001918.2:c.209C>T, NM_001918.3:c.209C>TVOUS09/04/2013
12DBTEx3NM_001918.3:c.251G>Ap.Trp84* | p.W84XNM_001918.2:c.251G>A, NM_001918.3:c.251G>APathogenic08/23/2013 
13DBTEx3NM_001918.3:c.251+19dupANM_001918.2:c.251+19dup, NM_001918.3:c.251+19dupBenign10/30/2013 
14DBTEx4NM_001918.3:c.272_275delCAGTNM_001918.2:c.272_275delCAGT, NM_001918.3:c.272_275delCAGTPathogenic08/23/2013 
15DBTEx4NM_001918.3:c.339_345delTTATGATNM_001918.2:c.339_345delTTATGAT, NM_001918.3:c.339_345delTTATGATPathogenic08/23/2013 
16DBTEx4NM_001918.3:c.360delANM_001918.2:c.360delA, NM_001918.3:c.360delAPathogenic02/05/2015 
17DBTEx4NM_001918.3:c.365A>Gp.Tyr122Cys | p.Y122CNM_001918.2:c.365A>G, NM_001918.3:c.365A>G, XM_005270543.1:c.365A>G, XM_005270544.1:c.365A>G, XM_005270545.1:c.-179A>G, XM_005270546.1:c.-111+4635A>GVOUS02/17/2014
18DBTEx4NM_001918.3:c.433+1G>TNM_001918.2:c.433+1G>T, NM_001918.3:c.433+1G>T, XM_005270543.1:c.433+1G>T, XM_005270544.1:c.433+1G>T, XM_005270545.1:c.-111+1G>T, XM_005270546.1:c.-111+4704G>TPathogenic08/14/2014 
19DBTEx5NM_001918.3:Ex5:Non-amplificationOther Reportable02/10/2014 
20DBTEx5NM_001918.3:c.434-15_434-4delTTACCTTGTTACNM_001918.2:c.434-15_434-4delTTACCTTGTTAC, NM_001918.3:c.434-15_434-4delTTACCTTGTTAC, XM_005270543.1:c.434-15_434-4delTTACCTTGTTAC, XM_005270544.1:c.434-15_434-4delTTACCTTGTTAC, XM_005270545.1:c.-110-15_-110-4delTTACCTTGTTAC, XM_005270546.1:c.-110-15_-110-4delTTACCTTGTTACPathogenic02/24/2014 
21DBTEx6NM_001918.3:c.577G>Ap.Gly193Ser | p.G193SNM_001918.2:c.577G>A, NM_001918.3:c.577G>AVOUS09/04/2013
22DBTEx6NM_001918.3:c.670G>Tp.Glu224* | p.E224XNM_001918.2:c.670G>T, NM_001918.3:c.670G>TPathogenic08/23/2013 
23DBTEx6NM_001918.3:c.715A>Gp.Ile239Val | p.I239VNM_001918.2:c.715A>G, NM_001918.3:c.715A>GBenign08/23/2013 
24DBTEx6NM_001918.3:c.724T>Cp.Ser242Pro | p.S242PNM_001918.2:c.724T>C, NM_001918.3:c.724T>CBenign10/30/2013 
25DBTEx6NM_001918.3:c.726_733delAAAACCTNM_001918.2:c.726_733delAAAACCT, NM_001918.3:c.726_733delAAAACCTPathogenic** 
26DBTEx6NM_001918.3:c.753C>Tp.Asp251= | p.D251=NM_001918.2:c.753C>T, NM_001918.3:c.753C>TBenign09/18/2013 
27DBTEx7NM_001918.3:c.773-2A>GNM_001918.2:c.773-2A>G, NM_001918.3:c.773-2A>GPathogenic08/23/2013 
28DBTEx7NM_001918.3:c.827T>Gp.Phe276Cys | p.F276CNM_001918.2:c.827T>G, NM_001918.3:c.827T>GPathogenic08/23/2013 
29DBTEx7NM_001918.3:c.871C>Tp.Arg291* | p.R291XNM_001918.2:c.871C>T, NM_001918.3:c.871C>TPathogenic10/11/2013 
30DBTEx7NM_001918.3:c.901C>Tp.Arg301Cys | p.R301CNM_001918.2:c.901C>T, NM_001918.3:c.901C>TPathogenic11/26/2012 
31DBTEx7NM_001918.3:c.917C>Gp.Ser306Cys | p.S306CNM_001918.2:c.917C>G, NM_001918.3:c.917C>G, XM_005270543.1:c.917C>G, XM_005270544.1:c.917C>G, XM_005270545.1:c.374C>G, XM_005270546.1:c.374C>GVOUS08/21/2019
32DBTEx7NM_001918.3:c.939G>Cp.Lys313Asn | p.K313NK252N, NM_001918.2:c.939G>C, NM_001918.3:c.939G>CPathogenic09/04/2013 
33DBTEx9NM_001918.3:c.1024C>Gp.His342Asp | p.H342DNM_001918.2:c.1024C>G, NM_001918.3:c.1024C>GVOUS09/04/2013
34DBTEx9NM_001918.3:c.1024C>Tp.His342Tyr | p.H342YNM_001918.2:c.1024C>T, NM_001918.3:c.1024C>T, XM_005270543.1:c.1024C>T, XM_005270544.1:c.*4471C>T, XM_005270545.1:c.481C>T, XM_005270546.1:c.481C>TVOUS02/27/2014
35DBTEx9NM_001918.3:c.1096T>Cp.Ser366Pro | p.S366PNM_001918.2:c.1096T>C, NM_001918.3:c.1096T>CVOUS09/04/2013
36DBTEx9NM_001918.3:c.1127G>Ap.Arg376His | p.R376HNM_001918.2:c.1127G>A, NM_001918.3:c.1127G>AVOUS09/04/2013
37DBTEx9NM_001918.3:c.1133A>Cp.Gln378Pro | p.Q378PNM_001918.2:c.1133A>C, NM_001918.3:c.1133A>CVOUS09/04/2013
38DBTEx9NM_001918.3:c.1133A>Gp.Gln378Pro | p.Q378PNM_001918.2:c.1133A>G, NM_001918.3:c.1133A>GVOUS09/04/2013
39DBTEx9NM_001918.3:c.1150A>Gp.Ser384Gly | p.S384GNM_001918.2:c.1150A>G, NM_001918.3:c.1150A>GBenign08/24/2015 
40DBTEx10NM_001918.3:c.1210-22delTNM_001918.2:c.1210-22delT, NM_001918.3:c.1210-22delTBenign08/25/2013 
41DBTEx10NM_001918.3:c.1210-10T>ANM_001918.2:c.1210-10T>A, NM_001918.3:c.1210-10T>ABenign10/30/2013 
42DBTEx10NM_001918.3:c.1210-10_1210-9delTANM_001918.2:c.1210-10_1210-9delTA, NM_001918.3:c.1210-10_1210-9delTA, XM_005270543.1:c.1209+134_1209+135delTA, XM_005270544.1:c.*4790_*4791delTA, XM_005270545.1:c.667-10_667-9delTA, XM_005270546.1:c.667-10_667-9delTABenign01/06/2015 
43DBTEx10NM_001918.3:c.1210-10dupTNM_001918.2:c.1210-10_1210-9insT, NM_001918.3:c.1210-10_1210-9insT, XM_005270543.1:c.1209+134_1209+135insT, XM_005270544.1:c.*4790_*4791insT, XM_005270545.1:c.667-10_667-9insT, XM_005270546.1:c.667-10_667-9insTBenign02/14/2017 
44DBTEx10NM_001918.3:c.1210-9A>TNM_001918.2:c.1210-9A>T, NM_001918.3:c.1210-9A>TBenign09/18/2013 
45DBTEx10NM_001918.3:c.1210-4delANM_001918.2:c.1210-4delA, NM_001918.3:c.1210-4delABenign02/10/2014 
46DBTEx10NM_001918.3:c.1258A>Gp.Ile420Val | p.I420VNM_001918.2:c.1258A>G, NM_001918.3:c.1258A>GVOUS09/04/2013
47DBTEx10NM_001918.3:c.1281+6T>GNM_001918.2:c.1281+6T>G, NM_001918.3:c.1281+6T>GLikely benign09/04/2013 
48DBTEx10NM_001918.3:c.1281+31T>GNM_001918.2:c.1281+31T>G, NM_001918.3:c.1281+31T>GBenign08/23/2013 
49DBTEx11NM_001918.3:c.1282-14_1282-10delTTTTTNM_001918.2:c.1282-14_1282-10delTTTTT, NM_001918.3:c.1282-14_1282-10delTTTTT, XM_005270543.1:c.1210-14_1210-10delTTTTT, XM_005270545.1:c.739-14_739-10delTTTTT, XM_005270546.1:c.739-14_739-10delTTTTTBenign08/28/2015 
50DBTEx11NM_001918.3:c.1282-11_1282-5delTTCATTTNM_001918.2:c.1282-11_1282-5delTTCATTT, NM_001918.3:c.1282-11_1282-5delTTCATTT, XM_005270543.1:c.1210-11_1210-5delTTCATTT, XM_005270545.1:c.739-11_739-5delTTCATTT, XM_005270546.1:c.739-11_739-5delTTCATTTVOUS04/22/2016
51DBTEx11NM_001918.3:c.1291C>Tp.Arg431* | p.R431XNM_001918.2:c.1291C>T, NM_001918.3:c.1291C>TPathogenic08/23/2013 
52DBTEx11NM_001918.3:c.1348G>Ap.Ala450Thr | p.A450TNM_001918.2:c.1348G>A, NM_001918.3:c.1348G>AVOUS09/04/2013
53DBTEx11NM_001918.3:c.1418A>Gp.Asn473Ser | p.N473SNM_001918.2:c.1418A>G, NM_001918.3:c.1418A>GVOUS09/04/2013
54DBTEx11NM_001918.3:c.1430T>Gp.Met477Arg | p.M477RNM_001918.2:c.1430T>G, NM_001918.3:c.1430T>G, XM_005270543.1:c.1358T>G, XM_005270545.1:c.887T>G, XM_005270546.1:c.887T>GPathogenic02/21/2019 
55DBTEx11NM_001918.3:c.1447T>Cp.*483Arg | p.X483RNM_001918.2:c.1447T>C, NM_001918.3:c.1447T>CLikely pathogenic03/26/2013 

* 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.