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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  
1PYGMEx1NM_005609.2:c.8G>Ap.Arg3Gln | p.R3QLRG_617t1:c.*5563G>A, LRG_617t2:c.*5927G>A, LRG_617t3:c.*5498G>A, LRG_617t4:c.*5498G>A, NM_001164716.1:c.8G>A, NM_001178030.1:c.*5563G>A, NM_001178031.1:c.*5927G>A, NM_004630.2:c.*5927G>A, NM_004630.3:c.*5927G>A, NM_005609.2:c.8G>A, NM_201995.1:c.*5498G>A, NM_201995.2:c.*5498G>A, NM_201997.2:c.*5498G>A, NM_201998.1:c.*5563G>A, NM_201998.2:c.*5563G>A, NR_033649.1:n.*4713G>A, NR_033650.1:n.*4713G>A, XM_005274233.1:c.*5592G>A, XM_005274234.1:c.*6015G>A, XM_005274235.1:c.*6015G>A, XM_005274236.1:c.*5927G>A, XM_005274237.1:c.*5498G>A, XM_005274238.1:c.*5563G>AVOUS07/15/2016
2PYGMEx1NM_005609.2:c.61G>Ap.Gly21Ser | p.G21SLRG_617t1:c.*5616G>A, LRG_617t2:c.*5980G>A, LRG_617t3:c.*5551G>A, LRG_617t4:c.*5551G>A, NM_001164716.1:c.61G>A, NM_001178030.1:c.*5616G>A, NM_001178031.1:c.*5980G>A, NM_004630.2:c.*5980G>A, NM_004630.3:c.*5980G>A, NM_005609.2:c.61G>A, NM_201995.1:c.*5551G>A, NM_201995.2:c.*5551G>A, NM_201997.2:c.*5551G>A, NM_201998.1:c.*5616G>A, NM_201998.2:c.*5616G>A, NR_033649.1:n.*4766G>A, NR_033650.1:n.*4766G>A, XM_005274233.1:c.*5645G>A, XM_005274234.1:c.*6068G>A, XM_005274235.1:c.*6068G>A, XM_005274236.1:c.*5980G>A, XM_005274237.1:c.*5551G>A, XM_005274238.1:c.*5616G>AVOUS11/16/2016
3PYGMEx1NM_005609.2:c.64G>Ap.Val22Met | p.V22MLRG_617t1:c.*5619G>A, LRG_617t2:c.*5983G>A, LRG_617t3:c.*5554G>A, LRG_617t4:c.*5554G>A, NM_001164716.1:c.64G>A, NM_001178030.1:c.*5619G>A, NM_001178031.1:c.*5983G>A, NM_004630.2:c.*5983G>A, NM_004630.3:c.*5983G>A, NM_005609.2:c.64G>A, NM_201995.1:c.*5554G>A, NM_201995.2:c.*5554G>A, NM_201997.2:c.*5554G>A, NM_201998.1:c.*5619G>A, NM_201998.2:c.*5619G>A, NR_033649.1:n.*4769G>A, NR_033650.1:n.*4769G>A, XM_005274233.1:c.*5648G>A, XM_005274234.1:c.*6071G>A, XM_005274235.1:c.*6071G>A, XM_005274236.1:c.*5983G>A, XM_005274237.1:c.*5554G>A, XM_005274238.1:c.*5619G>AVOUS08/05/2016
4PYGMEx1NM_005609.2:c.131G>Ap.Arg44His | p.R44HNM_001164716.1:c.131G>A, NM_001178030.1:c.*5686G>A, NM_001178031.1:c.*6050G>A, NM_004630.2:c.*6050G>A, NM_004630.3:c.*6050G>A, NM_005609.2:c.131G>A, NM_201995.1:c.*5621G>A, NM_201995.2:c.*5621G>A, NM_201997.2:c.*5621G>A, NM_201998.1:c.*5686G>A, NM_201998.2:c.*5686G>A, NR_033649.1:n.*4836G>A, NR_033650.1:n.*4836G>A, XM_005274233.1:c.*5715G>A, XM_005274234.1:c.*6138G>A, XM_005274235.1:c.*6138G>A, XM_005274236.1:c.*6050G>A, XM_005274237.1:c.*5621G>A, XM_005274238.1:c.*5686G>AVOUS09/16/2015
5PYGMEx1NM_005609.2:c.148C>Tp.Arg50* | p.R50XLRG_617t1:c.*5703C>T, LRG_617t2:c.*6067C>T, LRG_617t3:c.*5638C>T, LRG_617t4:c.*5638C>T, MA R49x, NM_001164716.1:c.148C>T, NM_001178030.1:c.*5703C>T, NM_001178031.1:c.*6067C>T, NM_004630.2:c.*6067C>T, NM_004630.3:c.*6067C>T, NM_005609.2:c.148C>T, NM_201995.1:c.*5638C>T, NM_201995.2:c.*5638C>T, NM_201997.2:c.*5638C>T, NM_201998.1:c.*5703C>T, NM_201998.2:c.*5703C>T, NR_033649.1:n.*4853C>T, NR_033650.1:n.*4853C>T, XM_005274233.1:c.*5732C>T, XM_005274234.1:c.*6155C>T, XM_005274235.1:c.*6155C>T, XM_005274236.1:c.*6067C>T, XM_005274237.1:c.*5638C>T, XM_005274238.1:c.*5703C>TPathogenic02/04/2020 
6PYGMEx1NM_005609.2:c.182G>Ap.Arg61His | p.R61HNM_001164716.1:c.182G>A, NM_001178030.1:c.*5737G>A, NM_001178031.1:c.*6101G>A, NM_004630.2:c.*6101G>A, NM_004630.3:c.*6101G>A, NM_005609.2:c.182G>A, NM_201995.1:c.*5672G>A, NM_201995.2:c.*5672G>A, NM_201997.2:c.*5672G>A, NM_201998.1:c.*5737G>A, NM_201998.2:c.*5737G>A, NR_033649.1:n.*4887G>A, NR_033650.1:n.*4887G>ABenign06/08/2018 
7PYGMEx1NM_005609.2:c.243+48A>GNM_001164716.1:c.243+48A>G, NM_001178030.1:c.*5846A>G, NM_001178031.1:c.*6210A>G, NM_004630.2:c.*6210A>G, NM_004630.3:c.*6210A>G, NM_005609.2:c.243+48A>G, NM_201995.1:c.*5781A>G, NM_201995.2:c.*5781A>G, NM_201997.2:c.*5781A>G, NM_201998.1:c.*5846A>G, NM_201998.2:c.*5846A>G, NR_033649.1:n.*4996A>G, NR_033650.1:n.*4996A>GBenign** 
8PYGMEx2NM_005609.2:c.280C>Tp.Arg94Trp | p.R94WR93WPathogenic** 
9PYGMEx2NM_005609.2:c.330C>Tp.Asp110= | p.D110=NM_001164716.1:c.244-352C>T, NM_005609.2:c.330C>TLikely benign03/14/2017 
10PYGMEx3NM_005609.2:c.352C>Tp.Leu118= | p.L118=NM_001164716.1:c.244-243C>T, NM_005609.2:c.352C>TVOUS08/27/2015
11PYGMEx4NM_005609.2:c.425-22C>TBenign** 
12PYGMEx4NM_005609.2:c.481C>Tp.Arg161Cys | p.R161CPathogenic** 
13PYGMEx4NM_005609.2:c.501dupT** ERROR **Pathogenic03/02/2017 
14PYGMEx4NM_005609.2:c.527A>Cp.Gln176Pro | p.Q176PVOUS**
15PYGMEx5NM_005609.2:c.577G>Tp.Ala193Ser | p.A193SNM_001164716.1:c.313G>T, NM_005609.2:c.577G>TBenign02/06/2013 
16PYGMEx5NM_005609.2:c.613G>Ap.Gly205Ser | p.G205SMA G204s, NM_001164716.1:c.349G>A, NM_005609.2:c.613G>APathogenic07/25/2019 
17PYGMEx5NM_005609.2:c.614G>Ap.Gly205Asp | p.G205DG204D, NM_001164716.1:c.350G>A, NM_005609.2:c.614G>AVOUS**
18PYGMEx5NM_005609.2:c.645G>Ap.Lys215= | p.K215=Benign12/18/2012 
19PYGMEx5NM_005609.2:c.660G>Ap.Gln220= | p.Q220=NM_001164716.1:c.396G>A, NM_005609.2:c.660G>AVOUS01/06/2015
20PYGMEx5NM_005609.2:c.660+35G>ABenign** 
21PYGMEx6NM_005609.2:c.661-9C>TNM_001164716.1:c.397-9C>T, NM_005609.2:c.661-9C>TVOUS03/09/2017
22PYGMEx6NM_005609.2:c.661-5C>GNM_001164716.1:c.397-5C>G, NM_005609.2:c.661-5C>GBenign05/28/2013 
23PYGMEx7NM_005609.2:c.773T>Gp.Phe258Cys | p.F258CVOUS12/19/2019
24PYGMEx7NM_005609.2:c.828_831delCTCTinsGAp.Ile276Metfs*8 | p.I276MfsX8NM_001164716.1:c.564_567delinsGA, NM_005609.2:c.828_831delinsGAPathogenic09/25/2018 
25PYGMEx7NM_005609.2:c.832C>Tp.Arg278Cys | p.R278CVOUS**
26PYGMEx7NM_005609.2:c.848A>Gp.Asn283Ser | p.N283SNM_001164716.1:c.584A>G, NM_005609.2:c.848A>GVOUS12/09/2014
27PYGMEx7NM_005609.2:c.855+5G>ANM_001164716.1:c.591+5G>A, NM_005609.2:c.855+5G>AVOUS02/02/2018
28PYGMEx8NM_005609.2:c.924C>Tp.Ile308= | p.I308=NM_001164716.1:c.660C>T, NM_005609.2:c.924C>TVOUS03/25/2015
29PYGMEx8NM_005609.2:c.999+20C>TNM_001164716.1:c.735+20C>T, NM_005609.2:c.999+20C>TVOUS11/28/2017
30PYGMEx9NM_005609.2:c.1015A>Tp.Asn339Tyr | p.N339YVOUS**
31PYGMEx9NM_005609.2:c.1045G>Ap.Glu349Lys | p.E349KNM_001164716.1:c.781G>A, NM_005609.2:c.1045G>AVOUS09/25/2018
32PYGMEx9NM_005609.2:c.1083C>Tp.Asp361= | p.D361=NM_001164716.1:c.819C>T, NM_005609.2:c.1083C>TVOUS01/11/2017
33PYGMEx9NM_005609.2:c.1092+6dupCNM_001164716.1:c.828+6_828+7insC, NM_001164716.1:c.828+6dupC, NM_005609.2:c.1092+6_1092+7insC, NM_005609.2:c.1092+6dupCVOUS04/12/2017
34PYGMEx10NM_005609.2:c.1094C>Tp.Ala365Val | p.A365VNM_001164716.1:c.830C>T, NM_005609.2:c.1094C>TVOUS10/26/2015
35PYGMEx10NM_005609.2:c.1143G>Ap.Leu381= | p.L381=NM_001164716.1:c.879G>A, NM_005609.2:c.1143G>AVOUS08/27/2015
36PYGMEx10NM_005609.2:c.1160G>Ap.Arg387His | p.R387HNM_001164716.1:c.896G>A, NM_005609.2:c.1160G>AVOUS05/19/2017
37PYGMEx10NM_005609.2:c.1184C>Tp.Thr395Met | p.T395MNM_001164716.1:c.920C>T, NM_005609.2:c.1184C>TBenign05/25/2016 
38PYGMEx10NM_005609.2:c.1237A>Tp.Asn413Tyr | p.N413YNM_001164716.1:c.973A>T, NM_005609.2:c.1237A>TVOUS05/15/2014
39PYGMEx11NM_005609.2:c.1240C>Gp.Arg414Gly | p.R414GNM_001164716.1:c.976C>G, NM_005609.2:c.1240C>GBenign11/13/2014 
40PYGMEx11NM_005609.2:c.1272C>Ap.Asp424Glu | p.D424ENM_001164716.1:c.1008C>A, NM_005609.2:c.1272C>AVOUS03/09/2017
41PYGMEx11NM_005609.2:c.1343C>Tp.Ala448Val | p.A448VNM_001164716.1:c.1079C>T, NM_005609.2:c.1343C>TVOUS03/06/2015
42PYGMEx11NM_005609.2:c.1345G>Ap.Gly449Arg | p.G449RPathogenic** 
43PYGMEx11NM_005609.2:c.1349C>Tp.Ser450Leu | p.S450LNM_001164716.1:c.1085C>T, NM_005609.2:c.1349C>TVOUS09/16/2015
44PYGMEx11NM_005609.2:c.1366G>Ap.Val456Met | p.V456MNM_001164716.1:c.1102G>A, NM_005609.2:c.1366G>APathogenic09/20/2013 
45PYGMEx11NM_005609.2:c.1403+49C>ABenign** 
46PYGMEx12NM_005609.2:c.1466C>Gp.Pro489Arg | p.P489RNM_001164716.1:c.1202C>G, NM_005609.2:c.1466C>GPathogenic09/20/2013 
47PYGMEx12NM_005609.2:c.1494C>Tp.Pro498= | p.P498=NM_001164716.1:c.1230C>T, NM_005609.2:c.1494C>TBenign05/06/2013 
48PYGMEx13NM_005609.2:c.1537A>Gp.Ile513Val | p.I513VNM_001164716.1:c.1273A>G, NM_005609.2:c.1537A>GVOUS08/16/2018
49PYGMEx13NM_005609.2:c.1569C>Gp.Leu523= | p.L523=Benign10/09/2012 
50PYGMEx14NM_005609.2:c.1628A>Cp.Lys543Thr | p.K543TMA K542t, NM_001164716.1:c.1364A>C, NM_005609.2:c.1628A>CPathogenic05/13/2014 
51PYGMEx14NM_005609.2:c.1692C>Tp.Phe564= | p.F564=VOUS**
52PYGMEx14NM_005609.2:c.1768+1G>ANM_001164716.1:c.1504+1G>A, NM_005609.2:c.1768+1G>APathogenic12/03/2014 
53PYGMEx15NM_005609.2:c.1787A>Gp.Asn596Ser | p.N596SNM_001164716.1:c.1523A>G, NM_005609.2:c.1787A>GVOUS09/20/2016
54PYGMEx15NM_005609.2:c.1805G>Ap.Arg602Gln | p.R602QNM_001164716.1:c.1541G>A, NM_005609.2:c.1805G>AVOUS04/23/2018
55PYGMEx15NM_005609.2:c.1827G>Ap.Lys609= | p.K609=Pathogenic** 
56PYGMEx15NM_005609.2:c.1827+7A>GNM_001164716.1:c.1563+7A>G, NM_005609.2:c.1827+7A>GBenign06/07/2016 
57PYGMEx16NM_005609.2:c.1888G>Ap.Val630Met | p.V630MNM_001164716.1:c.1624G>A, NM_005609.2:c.1888G>ALikely benign06/30/2017 
58PYGMEx16NM_005609.2:c.1918C>Tp.Arg640Cys | p.R640CNM_001164716.1:c.1654C>T, NM_005609.2:c.1918C>TVOUS08/27/2015
59PYGMEx16NM_005609.2:c.1924C>Tp.Arg642Cys | p.R642CNM_001164716.1:c.1660C>T, NM_005609.2:c.1924C>TLikely benign07/17/2015 
60PYGMEx16NM_005609.2:c.1957C>Gp.Leu653Val | p.L653VVOUS03/11/2013
61PYGMEx17NM_005609.2:c.2009C>Tp.Ala670Val | p.A670VNM_001164716.1:c.1745C>T, NM_005609.2:c.2009C>TLikely benign12/11/2014 
62PYGMEx17NM_005609.2:c.2024C>Tp.Ser675Leu | p.S675LNM_001164716.1:c.1760C>T, NM_005609.2:c.2024C>TVOUS05/01/2017
63PYGMEx17NM_005609.2:c.2083G>Ap.Gly695Arg | p.G695RNM_001164716.1:c.1819G>A, NM_005609.2:c.2083G>ALikely pathogenic10/23/2020 
64PYGMEx17NM_005609.2:c.2135T>Cp.Phe712Ser | p.F712SVOUS**
65PYGMEx17NM_005609.2:c.2147T>Gp.Val716Gly | p.V716GLRG_100t1:c.-5203T>G, NM_001164716.1:c.1883T>G, NM_005609.2:c.2147T>G, NM_153819.1:c.-5203T>GVOUS10/10/2014
66PYGMEx18NM_005609.2:c.2262delAp.Lys754Asnfs*49 | p.K754NfsX49LRG_100t1:c.-2071delA, NM_001098670.1:c.-2604delA, NM_001098671.1:c.-3343delA, NM_001164716.1:c.1998delA, NM_005609.2:c.2262delA, NM_153819.1:c.-2071delA, XM_005273707.1:c.-2948delA, XM_005273708.1:c.-2604delAPathogenic05/01/2017 
67PYGMEx18NM_005609.2:c.2311C>Gp.Arg771Gly | p.R771GLRG_100t1:c.-2022C>G, NM_001098670.1:c.-2555C>G, NM_001098671.1:c.-3294C>G, NM_001164716.1:c.2047C>G, NM_005609.2:c.2311C>G, NM_153819.1:c.-2022C>G, XM_005273707.1:c.-2899C>G, XM_005273708.1:c.-2555C>GVOUS08/05/2016
68PYGMEx19NM_005609.2:c.2313-47T>CBenign** 
69PYGMEx20NM_005609.2:c.*31G>AVOUS**
70PYGMEx20NM_005609.2:c.2382C>Tp.Asn794= | p.N794=NM_001098670.1:c.-2136C>T, NM_001098671.1:c.-2875C>T, NM_001164716.1:c.2118C>T, NM_005609.2:c.2382C>T, NM_153819.1:c.-1603C>T, XM_005273707.1:c.-2480C>T, XM_005273708.1:c.-2136C>TLikely benign04/28/2015 
71PYGMEx20NM_005609.2:c.2392T>Cp.Trp798Arg | p.W798RPathogenic07/11/2012 
72PYGMEx20NM_005609.2:c.2446C>Tp.Arg816Cys | p.R816CNM_001098670.1:c.-2072C>T, NM_001098671.1:c.-2811C>T, NM_001164716.1:c.2182C>T, NM_005609.2:c.2446C>T, NM_153819.1:c.-1539C>T, XM_005273707.1:c.-2416C>T, XM_005273708.1:c.-2072C>TVOUS06/11/2015
73PYGMEx20NM_005609.2:c.2447G>Ap.Arg816His | p.R816HLRG_100t1:c.-1538G>A, NM_001098670.1:c.-2071G>A, NM_001098671.1:c.-2810G>A, NM_001164716.1:c.2183G>A, NM_005609.2:c.2447G>A, NM_153819.1:c.-1538G>A, XM_005273707.1:c.-2415G>A, XM_005273708.1:c.-2071G>AVOUS04/06/2018
74PYGMEx1NM_005609.3:c.148C>Tp.Arg50* | p.R50XLRG_617t1:c.*5703C>T, LRG_617t2:c.*6067C>T, LRG_617t3:c.*5638C>T, LRG_617t4:c.*5638C>T, NM_001164716.1:c.148C>T, NM_001178030.1:c.*5703C>T, NM_001178031.1:c.*6067C>T, NM_004630.2:c.*6067C>T, NM_004630.3:c.*6067C>T, NM_005609.2:c.148C>T, NM_201995.1:c.*5638C>T, NM_201995.2:c.*5638C>T, NM_201997.2:c.*5638C>T, NM_201998.1:c.*5703C>T, NM_201998.2:c.*5703C>T, NR_033649.1:n.*4853C>T, NR_033650.1:n.*4853C>T, XM_005274233.1:c.*5732C>T, XM_005274234.1:c.*6155C>T, XM_005274235.1:c.*6155C>T, XM_005274236.1:c.*6067C>T, XM_005274237.1:c.*5638C>T, XM_005274238.1:c.*5703C>TPathogenic02/25/2020 
75PYGMEx8NM_005609.3:c.875T>Cp.Leu292Pro | p.L292PNM_001164716.1:c.611T>C, NM_005609.2:c.875T>CVOUS02/25/2020
76PYGMEx8NM_005609.3:c.924C>Tp.Ile308= | p.I308=NM_001164716.1:c.660C>T, NM_005609.2:c.924C>TVOUS01/22/2021
77PYGMEx15NM_005609.3:c.1827+7A>GBenign09/16/2020 

* 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.