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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  
1G6PDEx2NM_001042351.1:c.98T>Cp.Ile33Thr | p.I33TLRG_148t1:c.188T>C, NM_000402.3:c.188T>C, NM_001042351.1:c.98T>C, NM_001099856.2:c.189+3606A>G, NM_001099857.1:c.-1703A>G, NM_001145255.1:c.-1703A>G, NM_003639.3:c.-2047A>G, XM_005274657.1:c.188T>CPathogenic09/06/2012 
2G6PDEx2NM_001042351.1:c.120+9C>TLRG_148t1:c.210+9C>T, LRG_70t1:c.-2078G>A, NM_000402.3:c.210+9C>T, NM_001042351.1:c.120+9C>T, NM_001099856.2:c.189+3575G>A, NM_001099857.1:c.-1734G>A, NM_001145255.1:c.-1734G>A, NM_003639.3:c.-2078G>A, XM_005274657.1:c.210+9C>T, XM_005274658.1:c.120+9C>T, XM_005274760.1:c.189+3575G>A, XM_005274761.1:c.189+3575G>A, XM_005274762.1:c.-16+4636G>A, XM_005274763.1:c.-16+4641G>A, XM_005274764.1:c.-1734G>AVOUS03/03/2016
3G6PDEx3NM_001042351.1:c.121-46G>ANM_000402.3:c.211-46G>A, NM_001042351.1:c.121-46G>A, XM_005274657.1:c.211-46G>A, XM_005274658.1:c.121-46G>A, XM_005274762.1:c.-5183C>T, XM_005274763.1:c.-5178C>TVOUS09/14/2012
4G6PDEx3NM_001042351.1:c.158+13C>TLRG_148t1:c.248+13C>T, NM_000402.3:c.248+13C>T, NM_001042351.1:c.158+13C>T, XM_005274657.1:c.248+13C>T, XM_005274658.1:c.158+13C>TVOUS11/30/2016
5G6PDEx4NM_001042351.1:c.202G>Ap.Val68Met | p.V68MLRG_148t1:c.292G>A, NM_000402.3:c.292G>A, NM_001042351.1:c.202G>A, XM_005274657.1:c.292G>A, XM_005274658.1:c.202G>APathogenic12/04/2018 
6G6PDEx4NM_001042351.1:c.220C>Gp.Arg74Gly | p.R74GLRG_148t1:c.310C>G, NM_000402.3:c.310C>G, NM_001042351.1:c.220C>G, XM_005274657.1:c.310C>G, XM_005274658.1:c.220C>GVOUS03/31/2016
7G6PDEx5NM_001042351.1:c.305T>Cp.Phe102Ser | p.F102SNM_000402.3:c.395T>C, NM_001042351.1:c.305T>C, XM_005274657.1:c.395T>C, XM_005274658.1:c.305T>CVOUS02/02/2016
8G6PDEx5NM_001042351.1:c.337G>Ap.Asp113Asn | p.D113NNM_000402.3:c.427G>A, NM_001042351.1:c.337G>A, XM_005274657.1:c.427G>A, XM_005274658.1:c.337G>AVOUS07/09/2015
9G6PDEx5NM_001042351.1:c.376A>Gp.Asn126Asp | p.N126DLRG_148t1:c.466A>G, NM_000402.3:c.466A>G, NM_001042351.1:c.376A>G, XM_005274657.1:c.466A>G, XM_005274658.1:c.376A>GOther Reportable10/29/2019 
10G6PDEx5NM_001042351.1:c.383T>Cp.Leu128Pro | p.L128PNM_000402.3:c.473T>C, NM_001042351.1:c.383T>CPathogenic10/29/2013 
11G6PDEx5NM_001042351.1:c.392G>Tp.Gly131Val | p.G131VNM_000402.3:c.482G>T, NM_001042351.1:c.392G>T, XM_005274657.1:c.482G>T, XM_005274658.1:c.392G>TPathogenic** 
12G6PDEx6NM_001042351.1:c.486-14C>TNM_000402.3:c.576-14C>T, NM_001042351.1:c.486-14C>T, XM_005274657.1:c.576-11C>T, XM_005274658.1:c.486-11C>TVOUS01/08/2015
13G6PDEx6NM_001042351.1:c.487G>Ap.Gly163Ser | p.G163SNM_000402.3:c.577G>A, NM_001042351.1:c.487G>A, XM_005274657.1:c.580G>A, XM_005274658.1:c.490G>APathogenic06/02/2016 
14G6PDEx6NM_001042351.1:c.493A>Gp.Asn165Asp | p.N165DNM_000402.3:c.583A>G, NM_001042351.1:c.493A>GPathogenic05/14/2014 
15G6PDEx6NM_001042351.1:c.542A>Tp.Asp181Val | p.D181VLRG_148t1:c.632A>T, NM_000402.3:c.632A>T, NM_001042351.1:c.542A>T, XM_005274657.1:c.635A>T, XM_005274658.1:c.545A>TPathogenic11/05/2012 
16G6PDEx6NM_001042351.1:c.545G>Cp.Arg182Pro | p.R182PVOUS09/14/2012
17G6PDEx6NM_001042351.1:c.563C>Tp.Ser188Phe | p.S188FLRG_148t1:c.653C>T, NM_000402.3:c.653C>T, NM_001042351.1:c.563C>T, S188F, XM_005274657.1:c.656C>TPathogenic05/15/2017 
18G6PDEx6NM_001042351.1:c.637G>Tp.Val213Leu | p.V213LNM_000402.3:c.727G>T, NM_001042351.1:c.637G>TPathogenic08/21/2012 
19G6PDEx7NM_001042351.1:c.645-17C>TNM_000402.3:c.735-17C>T, NM_001042351.1:c.645-17C>T, XM_005274657.1:c.738-17C>T, XM_005274658.1:c.648-17C>TBenign03/31/2016 
20G6PDEx7NM_001042351.1:c.675G>Cp.Trp225Cys | p.W225CVOUS09/14/2012
21G6PDEx7NM_001042351.1:c.769C>Gp.Arg257Gly | p.R257GNM_000402.3:c.859C>G, NM_001042351.1:c.769C>G, XM_005274657.1:c.862C>G, XM_005274658.1:c.772C>GPathogenic** 
22G6PDEx8NM_001042351.1:c.771-3C>TVOUS09/14/2012
23G6PDEx8NM_001042351.1:c.844G>Cp.Asp282His | p.D282HLRG_148t1:c.934G>C, NM_000402.3:c.934G>C, NM_001042351.1:c.844G>C, XM_005274657.1:c.937G>CPathogenic02/15/2019 
24G6PDEx8NM_001042351.1:c.864+17A>TVOUS09/14/2012
25G6PDEx9NM_001042351.1:c.865-16C>TNM_000402.3:c.955-16C>T, NM_001042351.1:c.865-16C>T, XM_005274657.1:c.958-16C>T, XM_005274658.1:c.868-16C>TVOUS04/01/2015
26G6PDEx9NM_001042351.1:c.871G>Ap.Val291Met | p.V291MNM_000402.3:c.961G>A, NM_001042351.1:c.871G>A, XM_005274657.1:c.964G>APathogenic08/05/2015 
27G6PDEx9NM_001042351.1:c.949G>Ap.Glu317Lys | p.E317KPathogenic** 
28G6PDEx9NM_001042351.1:c.968T>Cp.Leu323Pro | p.L323PL323P, LRG_148t1:c.1058T>C, NM_000402.3:c.1058T>C, NM_001042351.1:c.968T>C, XM_005274657.1:c.1061T>C, XM_005274658.1:c.971T>CPathogenic02/10/2014 
29G6PDEx9NM_001042351.1:c.1003G>Ap.Ala335Thr | p.A335TNM_000402.3:c.1093G>A, NM_001042351.1:c.1003G>APathogenic02/10/2014 
30G6PDEx9NM_001042351.1:c.1024C>Tp.Leu342Phe | p.L342FVOUS12/17/2012
31G6PDEx9NM_001042351.1:c.1037A>Tp.Asn346Ile | p.N346IVOUS09/14/2012
32G6PDEx9NM_001042351.1:c.1048G>Cp.Asp350His | p.D350HLRG_148t1:c.1138G>C, Mira d'Aire, NM_000402.3:c.1138G>C, NM_001042351.1:c.1048G>C, XM_005274657.1:c.1141G>C, XM_005274658.1:c.1051G>CPathogenic05/13/2013 
33G6PDEx9NM_001042351.1:c.1051+16G>ALRG_148t1:c.1141+16G>A, NM_000402.3:c.1141+16G>A, NM_001042351.1:c.1051+16G>A, XM_005274657.1:c.1144+16G>A, XM_005274658.1:c.1054+16G>AVOUS03/10/2017
34G6PDEx10NM_001042351.1:c.1116G>Ap.Gln372= | p.Q372=LRG_148t1:c.1206G>A, NM_000402.3:c.1206G>A, NM_001042351.1:c.1116G>A, XM_005274657.1:c.1209G>ABenign04/01/2015 
35G6PDEx10NM_001042351.1:c.1156A>Gp.Lys386Glu | p.K386ELRG_148t1:c.1246A>G, NM_000402.3:c.1246A>G, NM_001042351.1:c.1156A>G, XM_005274657.1:c.1249A>G, XM_005274658.1:c.1159A>GPathogenic01/29/2019 
36G6PDEx10NM_001042351.1:c.1160G>Ap.Arg387His | p.R387HLRG_148t1:c.1250G>A, NM_000402.3:c.1250G>A, NM_001042351.1:c.1160G>A, XM_005274657.1:c.1253G>A, XM_005274658.1:c.1163G>APathogenic** 
37G6PDEx10NM_001042351.1:c.1245C>Tp.Pro415= | p.P415=NM_000402.3:c.1335C>T, NM_001042351.1:c.1245C>T, XM_005274657.1:c.1338C>T, XM_005274658.1:c.1248C>TVOUS04/14/2015
38G6PDEx10NM_001042351.1:c.1287+20C>TLRG_148t1:c.1377+20C>T, NM_000402.3:c.1377+20C>T, NM_001042351.1:c.1287+20C>T, XM_005274657.1:c.1380+20C>T, XM_005274658.1:c.1290+20C>TVOUS03/29/2017
39G6PDEx11NM_001042351.1:c.1288-10_1288-9delTCNM_000402.3:c.1378-10_1378-9delTC, NM_001042351.1:c.1288-10_1288-9delTC, XM_005274657.1:c.1381-10_1381-9delTC, XM_005274658.1:c.1291-10_1291-9delTCBenign04/14/2015 
40G6PDEx11NM_001042351.1:c.1311C>Tp.Tyr437= | p.Y437=LRG_148t1:c.1401C>T, NM_000402.3:c.1401C>T, NM_001042351.1:c.1311C>T, XM_005274657.1:c.1404C>T, XM_005274658.1:c.1314C>TBenign01/29/2019 
41G6PDEx11NM_001042351.1:c.1316G>Cp.Arg439Pro | p.R439PLRG_148t1:c.1406G>C, NM_000402.3:c.1406G>C, NM_001042351.1:c.1316G>C, XM_005274657.1:c.1409G>C, XM_005274658.1:c.1319G>CPathogenic01/06/2017 
42G6PDEx11NM_001042351.1:c.1329C>Tp.Asp443= | p.D443=LRG_148t1:c.1419C>T, NM_000402.3:c.1419C>T, NM_001042351.1:c.1329C>T, XM_005274657.1:c.1422C>T, XM_005274658.1:c.1332C>TVOUS07/13/2016
43G6PDEx11NM_001042351.1:c.1339G>Ap.Gly447Arg | p.G447RNM_000402.3:c.1429G>A, NM_001042351.1:c.1339G>APathogenic10/18/2013 
44G6PDEx11NM_001042351.1:c.1360C>Tp.Arg454Cys | p.R454CLRG_148t1:c.1450C>T, NM_000402.3:c.1450C>T, NM_001042351.1:c.1360C>T, XM_005274657.1:c.1453C>T, XM_005274658.1:c.1363C>TPathogenic04/16/2019 
45G6PDEx12NM_001042351.1:c.1365-13T>CNM_000402.3:c.1455-13T>C, NM_001042351.1:c.1365-13T>C, XM_005274657.1:c.1458-13T>CBenign11/17/2015 
46G6PDEx12NM_001042351.1:c.1365-5C>TLRG_148t1:c.1455-5C>T, NM_000402.3:c.1455-5C>T, NM_001042351.1:c.1365-5C>T, XM_005274657.1:c.1458-5C>T, XM_005274658.1:c.1368-5C>TVOUS08/24/2016
47G6PDEx12NM_001042351.1:c.1376G>Tp.Arg459Leu | p.R459LLRG_148t1:c.1466G>T, NM_000402.3:c.1466G>T, NM_001042351.1:c.1376G>T, XM_005274657.1:c.1469G>T, XM_005274658.1:c.1379G>TPathogenic02/06/2020 
48G6PDEx12NM_001042351.1:c.1376G>Cp.Arg459Pro | p.R459PLRG_148t1:c.1466G>C, NM_000402.3:c.1466G>C, NM_001042351.1:c.1376G>C, XM_005274657.1:c.1469G>C, XM_005274658.1:c.1379G>CPathogenic08/31/2015 
49G6PDEx12NM_001042351.1:c.1388G>Ap.Arg463His | p.R463HLRG_148t1:c.1478G>A, NM_000402.3:c.1478G>A, NM_001042351.1:c.1388G>A, XM_005274657.1:c.1481G>APathogenic04/03/2018 
50G6PDEx12NM_001042351.1:c.1398C>Tp.Thr466= | p.T466=NM_000402.3:c.1488C>T, NM_001042351.1:c.1398C>T, XM_005274657.1:c.1491C>T, XM_005274658.1:c.1401C>TVOUS02/28/2013
51G6PDEx12NM_001042351.1:c.1431C>Tp.Pro477= | p.P477=LRG_148t1:c.1521C>T, NM_000402.3:c.1521C>T, NM_001042351.1:c.1431C>T, XM_005274657.1:c.1524C>TBenign07/10/2012 
52G6PDEx12NM_001042351.1:c.1457+34A>GNM_000402.3:c.1547+34A>G, NM_001042351.1:c.1457+34A>G, XM_005274657.1:c.1550+34A>G, XM_005274658.1:c.1460+34A>GVOUS09/14/2012
53G6PDEx13NM_001042351.1:c.*47G>AVOUS09/14/2012
54G6PDEx13NM_001042351.1:c.*50G>AVOUS09/14/2012
55G6PDEx13NM_001042351.1:c.1458-13C>GNM_000402.3:c.1548-13C>G, NM_001042351.1:c.1458-13C>G, XM_005274657.1:c.1551-13C>G, XM_005274658.1:c.1461-13C>GVOUS08/05/2015
56G6PDEx5NM_001042351.2:c.376A>Gp.Asn126Asp | p.N126DLRG_148t1:c.466A>G, NM_000402.3:c.466A>G, NM_001042351.1:c.376A>G, XM_005274657.1:c.466A>G, XM_005274658.1:c.376A>GOther Reportable01/20/2020 
57G6PDEx9NM_001042351.2:c.968T>Cp.Leu323Pro | p.L323PA- 968, Betica,Selma or Guantanamo, LRG_148t1:c.1058T>C, NM_000402.3:c.1058T>C, NM_001042351.1:c.968T>C, XM_005274657.1:c.1061T>C, XM_005274658.1:c.971T>CPathogenic10/01/2019 
58G6PDEx11NM_001042351.2:c.1360C>Tp.Arg454Cys | p.R454CLRG_148t1:c.1450C>T, NM_000402.3:c.1450C>T, NM_001042351.1:c.1360C>T, XM_005274657.1:c.1453C>T, XM_005274658.1:c.1363C>TPathogenic11/13/2020 
59G6PDEx12NM_001042351.2:c.1376G>Cp.Arg459Pro | p.R459PLRG_148t1:c.1466G>C, NM_000402.3:c.1466G>C, NM_001042351.1:c.1376G>C, XM_005274657.1:c.1469G>C, XM_005274658.1:c.1379G>CPathogenic03/27/2020 
60G6PDEx12NM_001042351.2:c.1376G>Tp.Arg459Leu | p.R459LLRG_148t1:c.1466G>T, NM_000402.3:c.1466G>T, NM_001042351.1:c.1376G>T, XM_005274657.1:c.1469G>T, XM_005274658.1:c.1379G>TPathogenic08/03/2020 

* 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.