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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  
1PLEKHG5Ex1NM_001265592.1:c.73+10T>GBenign01/14/2021 
2PLEKHG5Ex3NM_020631.4:c.64G>Ap.Val22Met | p.V22MNM_001042663.1:c.232G>A, NM_001042664.1:c.64G>A, NM_001042665.1:c.64G>A, NM_001265592.1:c.301G>A, NM_001265593.1:c.271G>A, NM_001265594.1:c.64G>A, NM_020631.3:c.64G>A, NM_020631.4:c.64G>A, NM_198681.2:c.295G>A, NM_198681.3:c.295G>A, XM_005263485.1:c.295G>ALikely benign06/25/2015 
3PLEKHG5Ex3NM_020631.4:c.73C>Tp.Arg25Trp | p.R25WNM_001042663.1:c.241C>T, NM_001042664.1:c.73C>T, NM_001042665.1:c.73C>T, NM_001265592.1:c.310C>T, NM_001265593.1:c.280C>T, NM_001265594.1:c.73C>T, NM_020631.3:c.73C>T, NM_020631.4:c.73C>T, NM_198681.2:c.304C>T, NM_198681.3:c.304C>T, XM_005263485.1:c.304C>TVOUS03/13/2015
4PLEKHG5Ex3NM_020631.4:c.88C>Tp.Arg30Cys | p.R30CNM_001042663.1:c.256C>T, NM_001042664.1:c.88C>T, NM_001042665.1:c.88C>T, NM_001265592.1:c.325C>T, NM_001265593.1:c.295C>T, NM_001265594.1:c.88C>T, NM_020631.3:c.88C>T, NM_020631.4:c.88C>T, NM_198681.2:c.319C>T, NM_198681.3:c.319C>T, XM_005263485.1:c.319C>TBenign10/29/2015 
5PLEKHG5Ex5NM_020631.4:c.214C>Ap.Pro72Thr | p.P72TLRG_262t1:c.214C>A, NM_001042663.1:c.382C>A, NM_001042664.1:c.214C>A, NM_001042665.1:c.214C>A, NM_001265592.1:c.451C>A, NM_001265593.1:c.421C>A, NM_001265594.1:c.214C>A, NM_020631.3:c.214C>A, NM_020631.4:c.214C>A, NM_198681.2:c.445C>A, NM_198681.3:c.445C>A, XM_005263485.1:c.445C>AVOUS03/30/2017
6PLEKHG5Ex7NM_020631.4:c.440-10C>TNM_001042663.1:c.608-10C>T, NM_001042664.1:c.440-10C>T, NM_001042665.1:c.440-10C>T, NM_001265592.1:c.677-10C>T, NM_001265593.1:c.647-10C>T, NM_001265594.1:c.440-10C>T, NM_020631.3:c.440-10C>T, NM_020631.4:c.440-10C>T, NM_198681.2:c.671-10C>T, NM_198681.3:c.671-10C>T, XM_005263485.1:c.671-10C>TBenign11/19/2015 
7PLEKHG5Ex7NM_020631.4:c.482T>Cp.Met161Thr | p.M161TLRG_262t1:c.482T>C, NM_001042663.1:c.650T>C, NM_001042664.1:c.482T>C, NM_001042665.1:c.482T>C, NM_001265592.1:c.719T>C, NM_001265593.1:c.689T>C, NM_001265594.1:c.482T>C, NM_020631.3:c.482T>C, NM_020631.4:c.482T>C, NM_198681.2:c.713T>C, NM_198681.3:c.713T>C, XM_005263485.1:c.713T>CLikely benign02/03/2017 
8PLEKHG5Ex7NM_020631.4:c.518G>Ap.Arg173Gln | p.R173QNM_001042663.1:c.686G>A, NM_001042664.1:c.518G>A, NM_001042665.1:c.518G>A, NM_001265592.1:c.755G>A, NM_001265593.1:c.725G>A, NM_001265594.1:c.518G>A, NM_020631.3:c.518G>A, NM_020631.4:c.518G>A, NM_198681.2:c.749G>A, NM_198681.3:c.749G>A, XM_005263485.1:c.749G>AVOUS02/13/2015
9PLEKHG5Ex7NM_020631.4:c.541G>Ap.Ala181Thr | p.A181TLRG_262t1:c.541G>A, NM_001042663.1:c.709G>A, NM_001042664.1:c.541G>A, NM_001042665.1:c.541G>A, NM_001265592.1:c.778G>A, NM_001265593.1:c.748G>A, NM_001265594.1:c.541G>A, NM_020631.3:c.541G>A, NM_020631.4:c.541G>A, NM_198681.2:c.772G>A, NM_198681.3:c.772G>A, XM_005263485.1:c.772G>AVOUS03/02/2017
10PLEKHG5Ex8NM_020631.4:c.665C>Ap.Thr222Lys | p.T222KNM_001042663.1:c.833C>A, NM_001042664.1:c.665C>A, NM_001042665.1:c.665C>A, NM_001265592.1:c.902C>A, NM_001265593.1:c.872C>A, NM_001265594.1:c.665C>A, NM_020631.3:c.665C>A, NM_020631.4:c.665C>A, NM_198681.2:c.896C>A, NM_198681.3:c.896C>A, XM_005263485.1:c.896C>AVOUS02/04/2016
11PLEKHG5Ex8NM_020631.4:c.691G>Ap.Gly231Ser | p.G231SNM_001042663.1:c.859G>A, NM_001042664.1:c.691G>A, NM_001042665.1:c.691G>A, NM_001265592.1:c.928G>A, NM_001265593.1:c.898G>A, NM_001265594.1:c.691G>A, NM_020631.3:c.691G>A, NM_020631.4:c.691G>A, NM_198681.2:c.922G>A, NM_198681.3:c.922G>A, XM_005263485.1:c.922G>ABenign10/31/2014 
12PLEKHG5Ex8NM_020631.4:c.713C>Gp.Thr238Ser | p.T238SNM_001042663.1:c.881C>G, NM_001042664.1:c.713C>G, NM_001042665.1:c.713C>G, NM_001265592.1:c.950C>G, NM_001265593.1:c.920C>G, NM_001265594.1:c.713C>G, NM_020631.3:c.713C>G, NM_020631.4:c.713C>G, NM_198681.2:c.944C>G, NM_198681.3:c.944C>G, XM_005263485.1:c.944C>GBenign10/31/2014 
13PLEKHG5Ex8NM_020631.4:c.719A>Gp.Asp240Gly | p.D240GNM_001042663.1:c.887A>G, NM_001042664.1:c.719A>G, NM_001042665.1:c.719A>G, NM_001265592.1:c.956A>G, NM_001265593.1:c.926A>G, NM_001265594.1:c.719A>G, NM_020631.3:c.719A>G, NM_020631.4:c.719A>G, NM_198681.2:c.950A>G, NM_198681.3:c.950A>G, XM_005263485.1:c.950A>GVOUS11/14/2014
14PLEKHG5Ex8NM_020631.4:c.753C>Tp.Ser251= | p.S251=LRG_262t1:c.753C>T, NM_001042663.1:c.921C>T, NM_001042664.1:c.753C>T, NM_001042665.1:c.753C>T, NM_001265592.1:c.990C>T, NM_001265593.1:c.960C>T, NM_001265594.1:c.753C>T, NM_020631.3:c.753C>T, NM_020631.4:c.753C>T, NM_198681.2:c.984C>T, NM_198681.3:c.984C>T, XM_005263485.1:c.984C>TVOUS09/20/2016
15PLEKHG5Ex9NM_020631.4:c.796-9T>GLRG_262t1:c.796-9T>G, NM_001042663.1:c.964-9T>G, NM_001042664.1:c.796-9T>G, NM_001042665.1:c.796-9T>G, NM_001265592.1:c.1033-9T>G, NM_001265593.1:c.1003-9T>G, NM_001265594.1:c.796-9T>G, NM_020631.3:c.796-9T>G, NM_020631.4:c.796-9T>G, NM_198681.2:c.1027-9T>G, NM_198681.3:c.1027-9T>G, XM_005263485.1:c.1027-9T>GVOUS09/19/2016
16PLEKHG5Ex9NM_020631.4:c.918C>Tp.Asp306= | p.D306=LRG_262t1:c.918C>T, NM_001042663.1:c.1086C>T, NM_001042664.1:c.918C>T, NM_001042665.1:c.918C>T, NM_001265592.1:c.1155C>T, NM_001265593.1:c.1125C>T, NM_001265594.1:c.918C>T, NM_020631.3:c.918C>T, NM_020631.4:c.918C>T, NM_198681.2:c.1149C>T, NM_198681.3:c.1149C>T, XM_005263485.1:c.1149C>TVOUS01/14/2021
17PLEKHG5Ex10NM_020631.4:c.997C>Ap.Arg333= | p.R333=LRG_262t1:c.997C>A, NM_001042663.1:c.1165C>A, NM_001042664.1:c.997C>A, NM_001042665.1:c.997C>A, NM_001265592.1:c.1234C>A, NM_001265593.1:c.1204C>A, NM_001265594.1:c.997C>A, NM_020631.3:c.997C>A, NM_020631.4:c.997C>A, NM_198681.2:c.1228C>A, NM_198681.3:c.1228C>A, XM_005263485.1:c.1228C>AVOUS08/10/2017
18PLEKHG5Ex12NM_020631.4:c.1254C>Gp.Pro418= | p.P418=NM_001042663.1:c.1422C>G, NM_001042664.1:c.1254C>G, NM_001042665.1:c.1254C>G, NM_001265592.1:c.1491C>G, NM_001265593.1:c.1461C>G, NM_001265594.1:c.1254C>G, NM_020631.3:c.1254C>G, NM_020631.4:c.1254C>G, NM_198681.2:c.1485C>G, NM_198681.3:c.1485C>G, XM_005263485.1:c.1485C>G, XM_005263516.1:c.-5030C>G, XM_005263517.1:c.-5030C>GBenign07/02/2015 
19PLEKHG5Ex13NM_020631.4:c.1371C>Tp.Asp457= | p.D457=NM_001039664.1:c.-4904C>T, NM_001042663.1:c.1539C>T, NM_001042664.1:c.1371C>T, NM_001042665.1:c.1371C>T, NM_001265592.1:c.1608C>T, NM_001265593.1:c.1578C>T, NM_001265594.1:c.1371C>T, NM_003790.2:c.-4904C>T, NM_020631.3:c.1371C>T, NM_020631.4:c.1371C>T, NM_148965.1:c.-4904C>T, NM_148966.1:c.-4904C>T, NM_148967.1:c.-4904C>T, NM_148970.1:c.-4904C>T, NM_198681.2:c.1602C>T, NM_198681.3:c.1602C>T, XM_005263485.1:c.1602C>T, XM_005263516.1:c.-4526C>T, XM_005263517.1:c.-4526C>T, XM_005263518.1:c.-5412C>TVOUS08/27/2015
20PLEKHG5Ex15NM_020631.4:c.1572C>Tp.His524= | p.H524=NM_001039664.1:c.-4507C>T, NM_001042663.1:c.1740C>T, NM_001042664.1:c.1572C>T, NM_001042665.1:c.1572C>T, NM_001265592.1:c.1809C>T, NM_001265593.1:c.1779C>T, NM_001265594.1:c.1572C>T, NM_003790.2:c.-4507C>T, NM_020631.3:c.1572C>T, NM_020631.4:c.1572C>T, NM_148965.1:c.-4507C>T, NM_148966.1:c.-4507C>T, NM_148967.1:c.-4507C>T, NM_148970.1:c.-4507C>T, NM_198681.2:c.1803C>T, NM_198681.3:c.1803C>T, XM_005263485.1:c.1803C>T, XM_005263516.1:c.-4129C>T, XM_005263517.1:c.-4129C>T, XM_005263518.1:c.-5015C>T, XM_005263519.1:c.-5523C>TVOUS12/11/2014
21PLEKHG5Ex15NM_020631.4:c.1616C>Tp.Ala539Val | p.A539VNM_001039664.1:c.-4463C>T, NM_001042663.1:c.1784C>T, NM_001042664.1:c.1616C>T, NM_001042665.1:c.1616C>T, NM_001265592.1:c.1853C>T, NM_001265593.1:c.1823C>T, NM_001265594.1:c.1616C>T, NM_003790.2:c.-4463C>T, NM_020631.3:c.1616C>T, NM_020631.4:c.1616C>T, NM_148965.1:c.-4463C>T, NM_148966.1:c.-4463C>T, NM_148967.1:c.-4463C>T, NM_148970.1:c.-4463C>T, NM_198681.2:c.1847C>T, NM_198681.3:c.1847C>T, XM_005263485.1:c.1847C>T, XM_005263516.1:c.-4085C>T, XM_005263517.1:c.-4085C>T, XM_005263518.1:c.-4971C>T, XM_005263519.1:c.-5479C>TVOUS07/20/2017
22PLEKHG5Ex16NM_020631.4:c.1729G>Ap.Ala577Thr | p.A577TNM_001039664.1:c.-4200G>A, NM_001042663.1:c.1897G>A, NM_001042664.1:c.1729G>A, NM_001042665.1:c.1729G>A, NM_001265592.1:c.1966G>A, NM_001265593.1:c.1936G>A, NM_001265594.1:c.1729G>A, NM_003790.2:c.-4200G>A, NM_020631.3:c.1729G>A, NM_020631.4:c.1729G>A, NM_148965.1:c.-4200G>A, NM_148966.1:c.-4200G>A, NM_148967.1:c.-4200G>A, NM_148970.1:c.-4200G>A, NM_198681.2:c.1960G>A, NM_198681.3:c.1960G>A, XM_005263485.1:c.1960G>A, XM_005263516.1:c.-3822G>A, XM_005263517.1:c.-3822G>A, XM_005263518.1:c.-4708G>A, XM_005263519.1:c.-5216G>AVOUS06/27/2014
23PLEKHG5Ex17NM_020631.4:c.1932T>Cp.Pro644= | p.P644=NM_001039664.1:c.-3438T>C, NM_001042663.1:c.2100T>C, NM_001042664.1:c.1932T>C, NM_001042665.1:c.1932T>C, NM_001265592.1:c.2169T>C, NM_001265593.1:c.2139T>C, NM_001265594.1:c.1932T>C, NM_003790.2:c.-3438T>C, NM_020631.3:c.1932T>C, NM_020631.4:c.1932T>C, NM_148965.1:c.-3438T>C, NM_148966.1:c.-3438T>C, NM_148967.1:c.-3438T>C, NM_148970.1:c.-3438T>C, NM_198681.2:c.2163T>C, NM_198681.3:c.2163T>C, XM_005263485.1:c.2163T>C, XM_005263516.1:c.-3060T>C, XM_005263517.1:c.-3060T>C, XM_005263518.1:c.-3946T>C, XM_005263519.1:c.-4454T>CVOUS02/12/2015
24PLEKHG5Ex18NM_020631.4:c.2001T>Cp.Ser667= | p.S667=NM_001039664.1:c.-3276T>C, NM_001042663.1:c.2169T>C, NM_001042664.1:c.2001T>C, NM_001042665.1:c.2001T>C, NM_001265592.1:c.2238T>C, NM_001265593.1:c.2208T>C, NM_001265594.1:c.2001T>C, NM_003790.2:c.-3276T>C, NM_020631.3:c.2001T>C, NM_020631.4:c.2001T>C, NM_148965.1:c.-3276T>C, NM_148966.1:c.-3276T>C, NM_148967.1:c.-3276T>C, NM_148970.1:c.-3276T>C, NM_198681.2:c.2232T>C, NM_198681.3:c.2232T>C, XM_005263485.1:c.2232T>C, XM_005263516.1:c.-2898T>C, XM_005263517.1:c.-2898T>C, XM_005263518.1:c.-3784T>C, XM_005263519.1:c.-4292T>CBenign01/06/2015 
25PLEKHG5Ex19NM_020631.4:c.2160G>Ap.Glu720= | p.E720=NM_001039664.1:c.-3024G>A, NM_001042663.1:c.2328G>A, NM_001042664.1:c.2160G>A, NM_001042665.1:c.2160G>A, NM_001265592.1:c.2397G>A, NM_001265593.1:c.2367G>A, NM_001265594.1:c.2160G>A, NM_003790.2:c.-3024G>A, NM_020631.3:c.2160G>A, NM_020631.4:c.2160G>A, NM_148965.1:c.-3024G>A, NM_148966.1:c.-3024G>A, NM_148967.1:c.-3024G>A, NM_148970.1:c.-3024G>A, NM_198681.2:c.2391G>A, NM_198681.3:c.2391G>A, XM_005263485.1:c.2391G>A, XM_005263516.1:c.-2646G>A, XM_005263517.1:c.-2646G>A, XM_005263518.1:c.-3532G>A, XM_005263519.1:c.-4040G>AVOUS07/26/2016
26PLEKHG5Ex19NM_020631.4:c.2163G>Ap.Glu721= | p.E721=NM_001039664.1:c.-3021G>A, NM_001042663.1:c.2331G>A, NM_001042664.1:c.2163G>A, NM_001042665.1:c.2163G>A, NM_001265592.1:c.2400G>A, NM_001265593.1:c.2370G>A, NM_001265594.1:c.2163G>A, NM_003790.2:c.-3021G>A, NM_020631.3:c.2163G>A, NM_020631.4:c.2163G>A, NM_148965.1:c.-3021G>A, NM_148966.1:c.-3021G>A, NM_148967.1:c.-3021G>A, NM_148970.1:c.-3021G>A, NM_198681.2:c.2394G>A, NM_198681.3:c.2394G>A, XM_005263485.1:c.2394G>A, XM_005263516.1:c.-2643G>A, XM_005263517.1:c.-2643G>A, XM_005263518.1:c.-3529G>A, XM_005263519.1:c.-4037G>ABenign06/22/2015 
27PLEKHG5Ex19NM_020631.4:c.2163_2168delGGAGGANM_001039664.1:c.-3021_-3016delGGAGGA, NM_001042663.1:c.2331_2336delGGAGGA, NM_001042664.1:c.2163_2168delGGAGGA, NM_001042665.1:c.2163_2168delGGAGGA, NM_001265592.1:c.2400_2405delGGAGGA, NM_001265593.1:c.2370_2375delGGAGGA, NM_001265594.1:c.2163_2168delGGAGGA, NM_003790.2:c.-3021_-3016delGGAGGA, NM_020631.3:c.2143_2148delGAGGAG, NM_020631.3:c.2163_2168delGGAGGA, NM_020631.4:c.2163_2168delGGAGGA, NM_148965.1:c.-3021_-3016delGGAGGA, NM_148966.1:c.-3021_-3016delGGAGGA, NM_148967.1:c.-3021_-3016delGGAGGA, NM_148970.1:c.-3021_-3016delGGAGGA, NM_198681.2:c.2394_2399delGGAGGA, NM_198681.3:c.2394_2399delGGAGGABenign03/31/2015 
28PLEKHG5Ex19NM_020631.4:c.2166_2168delGGANM_001039664.1:c.-3018_-3016delGGA, NM_001042663.1:c.2334_2336delGGA, NM_001042664.1:c.2166_2168delGGA, NM_001042665.1:c.2166_2168delGGA, NM_001265592.1:c.2403_2405delGGA, NM_001265593.1:c.2373_2375delGGA, NM_001265594.1:c.2166_2168delGGA, NM_003790.2:c.-3018_-3016delGGA, NM_020631.3:c.2166_2168delGGA, NM_020631.4:c.2166_2168delGGA, NM_148965.1:c.-3018_-3016delGGA, NM_148966.1:c.-3018_-3016delGGA, NM_148967.1:c.-3018_-3016delGGA, NM_148970.1:c.-3018_-3016delGGA, NM_198681.2:c.2397_2399delGGA, NM_198681.3:c.2397_2399delGGA, XM_005263485.1:c.2397_2399delGGA, XM_005263516.1:c.-2640_-2638delGGA, XM_005263517.1:c.-2640_-2638delGGA, XM_005263518.1:c.-3526_-3524delGGA, XM_005263519.1:c.-4034_-4032delGGABenign11/23/2015 
29PLEKHG5Ex20NM_020631.4:c.2293G>Cp.Glu765Gln | p.E765QLRG_262t1:c.2293G>C, NM_001039664.1:c.-2436G>C, NM_001042663.1:c.2461G>C, NM_001042664.1:c.2293G>C, NM_001042665.1:c.2293G>C, NM_001265592.1:c.2530G>C, NM_001265593.1:c.2500G>C, NM_001265594.1:c.2293G>C, NM_003790.2:c.-2436G>C, NM_020631.3:c.2293G>C, NM_020631.4:c.2293G>C, NM_148965.1:c.-2436G>C, NM_148966.1:c.-2436G>C, NM_148967.1:c.-2436G>C, NM_148970.1:c.-2436G>C, NM_198681.2:c.2524G>C, NM_198681.3:c.2524G>C, XM_005263485.1:c.2480+499G>C, XM_005263516.1:c.-2058G>C, XM_005263517.1:c.-2058G>C, XM_005263518.1:c.-2944G>C, XM_005263519.1:c.-3452G>CVOUS08/16/2018
30PLEKHG5Ex20NM_020631.4:c.2307G>Ap.Thr769= | p.T769=NM_001039664.1:c.-2422G>A, NM_001042663.1:c.2475G>A, NM_001042664.1:c.2307G>A, NM_001042665.1:c.2307G>A, NM_001265592.1:c.2544G>A, NM_001265593.1:c.2514G>A, NM_001265594.1:c.2307G>A, NM_003790.2:c.-2422G>A, NM_020631.3:c.2307G>A, NM_020631.4:c.2307G>A, NM_148965.1:c.-2422G>A, NM_148966.1:c.-2422G>A, NM_148967.1:c.-2422G>A, NM_148970.1:c.-2422G>A, NM_198681.2:c.2538G>A, NM_198681.3:c.2538G>A, XM_005263485.1:c.2480+513G>A, XM_005263516.1:c.-2044G>A, XM_005263517.1:c.-2044G>A, XM_005263518.1:c.-2930G>A, XM_005263519.1:c.-3438G>ABenign01/08/2016 
31PLEKHG5Ex20NM_020631.4:c.2319C>Tp.Pro773= | p.P773=LRG_262t1:c.2319C>T, NM_001039664.1:c.-2410C>T, NM_001042663.1:c.2487C>T, NM_001042664.1:c.2319C>T, NM_001042665.1:c.2319C>T, NM_001265592.1:c.2556C>T, NM_001265593.1:c.2526C>T, NM_001265594.1:c.2319C>T, NM_003790.2:c.-2410C>T, NM_020631.3:c.2319C>T, NM_020631.4:c.2319C>T, NM_148965.1:c.-2410C>T, NM_148966.1:c.-2410C>T, NM_148967.1:c.-2410C>T, NM_148970.1:c.-2410C>T, NM_198681.2:c.2550C>T, NM_198681.3:c.2550C>T, XM_005263485.1:c.2480+525C>T, XM_005263516.1:c.-2032C>T, XM_005263517.1:c.-2032C>T, XM_005263518.1:c.-2918C>T, XM_005263519.1:c.-3426C>TBenign09/22/2016 
32PLEKHG5Ex20NM_020631.4:c.2377dupGNM_001039664.1:c.-2352_-2351insG, NM_001042663.1:c.2545_2546insG, NM_001042664.1:c.2377_2378insG, NM_001042665.1:c.2377_2378insG, NM_001265592.1:c.2614_2615insG, NM_001265593.1:c.2584_2585insG, NM_001265594.1:c.2377_2378insG, NM_003790.2:c.-2352_-2351insG, NM_020631.3:c.2377_2378insG, NM_020631.4:c.2377_2378insG, NM_148965.1:c.-2352_-2351insG, NM_148966.1:c.-2352_-2351insG, NM_148967.1:c.-2352_-2351insG, NM_148970.1:c.-2352_-2351insG, NM_198681.2:c.2608_2609insG, NM_198681.3:c.2608_2609insG, XM_005263485.1:c.2481-566_2481-565insG, XM_005263516.1:c.-1974_-1973insG, XM_005263517.1:c.-1974_-1973insG, XM_005263518.1:c.-2860_-2859insG, XM_005263519.1:c.-3368_-3367insGVOUS11/24/2015
33PLEKHG5Ex20NM_020631.4:c.2428G>Ap.Gly810Ser | p.G810SNM_001039664.1:c.-2301G>A, NM_001042663.1:c.2596G>A, NM_001042664.1:c.2428G>A, NM_001042665.1:c.2428G>A, NM_001265592.1:c.2665G>A, NM_001265593.1:c.2635G>A, NM_001265594.1:c.2428G>A, NM_003790.2:c.-2301G>A, NM_020631.3:c.2428G>A, NM_020631.4:c.2428G>A, NM_148965.1:c.-2301G>A, NM_148966.1:c.-2301G>A, NM_148967.1:c.-2301G>A, NM_148970.1:c.-2301G>A, NM_198681.2:c.2659G>A, NM_198681.3:c.2659G>A, XM_005263485.1:c.2481-515G>A, XM_005263516.1:c.-1923G>A, XM_005263517.1:c.-1923G>A, XM_005263518.1:c.-2809G>A, XM_005263519.1:c.-3317G>ABenign02/04/2016 
34PLEKHG5Ex20NM_020631.4:c.2431C>Tp.Arg811Cys | p.R811CLRG_262t1:c.2431C>T, NM_001039664.1:c.-2298C>T, NM_001042663.1:c.2599C>T, NM_001042664.1:c.2431C>T, NM_001042665.1:c.2431C>T, NM_001265592.1:c.2668C>T, NM_001265593.1:c.2638C>T, NM_001265594.1:c.2431C>T, NM_003790.2:c.-2298C>T, NM_020631.3:c.2431C>T, NM_020631.4:c.2431C>T, NM_148965.1:c.-2298C>T, NM_148966.1:c.-2298C>T, NM_148967.1:c.-2298C>T, NM_148970.1:c.-2298C>T, NM_198681.2:c.2662C>T, NM_198681.3:c.2662C>T, XM_005263485.1:c.2481-512C>T, XM_005263516.1:c.-1920C>T, XM_005263517.1:c.-1920C>T, XM_005263518.1:c.-2806C>T, XM_005263519.1:c.-3314C>TVOUS08/04/2016
35PLEKHG5Ex20NM_020631.4:c.2433C>Tp.Arg811= | p.R811=LRG_262t1:c.2433C>T, NM_001039664.1:c.-2296C>T, NM_001042663.1:c.2601C>T, NM_001042664.1:c.2433C>T, NM_001042665.1:c.2433C>T, NM_001265592.1:c.2670C>T, NM_001265593.1:c.2640C>T, NM_001265594.1:c.2433C>T, NM_003790.2:c.-2296C>T, NM_020631.3:c.2433C>T, NM_020631.4:c.2433C>T, NM_148965.1:c.-2296C>T, NM_148966.1:c.-2296C>T, NM_148967.1:c.-2296C>T, NM_148970.1:c.-2296C>T, NM_198681.2:c.2664C>T, NM_198681.3:c.2664C>T, XM_005263485.1:c.2481-510C>T, XM_005263516.1:c.-1918C>T, XM_005263517.1:c.-1918C>T, XM_005263518.1:c.-2804C>T, XM_005263519.1:c.-3312C>TVOUS06/21/2016
36PLEKHG5Ex20NM_020631.4:c.2525G>Ap.Arg842Gln | p.R842QNM_001039664.1:c.-2204G>A, NM_001042663.1:c.2693G>A, NM_001042664.1:c.2525G>A, NM_001042665.1:c.2525G>A, NM_001265592.1:c.2762G>A, NM_001265593.1:c.2732G>A, NM_001265594.1:c.2525G>A, NM_003790.2:c.-2204G>A, NM_020631.3:c.2525G>A, NM_020631.4:c.2525G>A, NM_148965.1:c.-2204G>A, NM_148966.1:c.-2204G>A, NM_148967.1:c.-2204G>A, NM_148970.1:c.-2204G>A, NM_198681.2:c.2756G>A, NM_198681.3:c.2756G>A, XM_005263485.1:c.2481-418G>A, XM_005263516.1:c.-1826G>A, XM_005263517.1:c.-1826G>A, XM_005263518.1:c.-2712G>A, XM_005263519.1:c.-3220G>AVOUS06/22/2017
37PLEKHG5Ex20NM_020631.4:c.2564C>Tp.Ser855Leu | p.S855LNM_001039664.1:c.-2165C>T, NM_001042663.1:c.2732C>T, NM_001042664.1:c.2564C>T, NM_001042665.1:c.2564C>T, NM_001265592.1:c.2801C>T, NM_001265593.1:c.2771C>T, NM_001265594.1:c.2564C>T, NM_003790.2:c.-2165C>T, NM_020631.3:c.2564C>T, NM_020631.4:c.2564C>T, NM_148965.1:c.-2165C>T, NM_148966.1:c.-2165C>T, NM_148967.1:c.-2165C>T, NM_148970.1:c.-2165C>T, NM_198681.2:c.2795C>T, NM_198681.3:c.2795C>T, XM_005263485.1:c.2481-379C>T, XM_005263516.1:c.-1787C>T, XM_005263517.1:c.-1787C>T, XM_005263518.1:c.-2673C>T, XM_005263519.1:c.-3181C>TVOUS04/14/2015
38PLEKHG5Ex20NM_020631.4:c.2576G>Ap.Arg859His | p.R859HLRG_262t1:c.2576G>A, NM_001039664.1:c.-2153G>A, NM_001042663.1:c.2744G>A, NM_001042664.1:c.2576G>A, NM_001042665.1:c.2576G>A, NM_001265592.1:c.2813G>A, NM_001265593.1:c.2783G>A, NM_001265594.1:c.2576G>A, NM_003790.2:c.-2153G>A, NM_020631.3:c.2576G>A, NM_020631.4:c.2576G>A, NM_148965.1:c.-2153G>A, NM_148966.1:c.-2153G>A, NM_148967.1:c.-2153G>A, NM_148970.1:c.-2153G>A, NM_198681.2:c.2807G>A, NM_198681.3:c.2807G>A, XM_005263485.1:c.2481-367G>A, XM_005263516.1:c.-1775G>A, XM_005263517.1:c.-1775G>A, XM_005263518.1:c.-2661G>A, XM_005263519.1:c.-3169G>ABenign05/13/2016 
39PLEKHG5Ex20NM_020631.4:c.2594A>Gp.Gln865Arg | p.Q865RLRG_262t1:c.2594A>G, NM_001039664.1:c.-2135A>G, NM_001042663.1:c.2762A>G, NM_001042664.1:c.2594A>G, NM_001042665.1:c.2594A>G, NM_001265592.1:c.2831A>G, NM_001265593.1:c.2801A>G, NM_001265594.1:c.2594A>G, NM_003790.2:c.-2135A>G, NM_020631.3:c.2594A>G, NM_020631.4:c.2594A>G, NM_148965.1:c.-2135A>G, NM_148966.1:c.-2135A>G, NM_148967.1:c.-2135A>G, NM_148970.1:c.-2135A>G, NM_198681.2:c.2825A>G, NM_198681.3:c.2825A>G, XM_005263485.1:c.2481-349A>G, XM_005263516.1:c.-1757A>G, XM_005263517.1:c.-1757A>G, XM_005263518.1:c.-2643A>G, XM_005263519.1:c.-3151A>GBenign07/21/2016 
40PLEKHG5Ex20NM_020631.4:c.2610G>Ap.Pro870= | p.P870=LRG_262t1:c.2610G>A, NM_001039664.1:c.-2119G>A, NM_001042663.1:c.2778G>A, NM_001042664.1:c.2610G>A, NM_001042665.1:c.2610G>A, NM_001265592.1:c.2847G>A, NM_001265593.1:c.2817G>A, NM_001265594.1:c.2610G>A, NM_003790.2:c.-2119G>A, NM_020631.3:c.2610G>A, NM_020631.4:c.2610G>A, NM_148965.1:c.-2119G>A, NM_148966.1:c.-2119G>A, NM_148967.1:c.-2119G>A, NM_148970.1:c.-2119G>A, NM_198681.2:c.2841G>A, NM_198681.3:c.2841G>A, XM_005263485.1:c.2481-333G>A, XM_005263516.1:c.-1741G>A, XM_005263517.1:c.-1741G>A, XM_005263518.1:c.-2627G>A, XM_005263519.1:c.-3135G>AVOUS12/21/2016
41PLEKHG5Ex20NM_020631.4:c.2720T>Cp.Leu907Pro | p.L907PNM_001039664.1:c.-2009T>C, NM_001042663.1:c.2888T>C, NM_001042664.1:c.2720T>C, NM_001042665.1:c.2720T>C, NM_001265592.1:c.2957T>C, NM_001265593.1:c.2927T>C, NM_001265594.1:c.2720T>C, NM_003790.2:c.-2009T>C, NM_020631.3:c.2720T>C, NM_020631.4:c.2720T>C, NM_148965.1:c.-2009T>C, NM_148966.1:c.-2009T>C, NM_148967.1:c.-2009T>C, NM_148970.1:c.-2009T>C, NM_198681.2:c.2951T>C, NM_198681.3:c.2951T>C, XM_005263485.1:c.2481-223T>C, XM_005263516.1:c.-1631T>C, XM_005263517.1:c.-1631T>C, XM_005263518.1:c.-2517T>C, XM_005263519.1:c.-3025T>CVOUS04/15/2015
42PLEKHG5Ex20NM_020631.4:c.2802C>Tp.Ser934= | p.S934=NM_001039664.1:c.-1927C>T, NM_001042663.1:c.2970C>T, NM_001042664.1:c.2802C>T, NM_001042665.1:c.2802C>T, NM_001265592.1:c.3039C>T, NM_001265593.1:c.3009C>T, NM_001265594.1:c.2737+65C>T, NM_003790.2:c.-1927C>T, NM_020631.3:c.2802C>T, NM_020631.4:c.2802C>T, NM_148965.1:c.-1927C>T, NM_148966.1:c.-1927C>T, NM_148967.1:c.-1927C>T, NM_148970.1:c.-1927C>T, NM_198681.2:c.3033C>T, NM_198681.3:c.3033C>T, XM_005263485.1:c.2481-141C>T, XM_005263516.1:c.-1549C>T, XM_005263517.1:c.-1549C>T, XM_005263518.1:c.-2435C>T, XM_005263519.1:c.-2943C>TVOUS07/28/2015
43PLEKHG5Ex20NM_020631.4:c.2827G>Cp.Gly943Arg | p.G943RLRG_262t1:c.2827G>C, NM_001039664.1:c.-1902G>C, NM_001042663.1:c.2995G>C, NM_001042664.1:c.2827G>C, NM_001042665.1:c.2827G>C, NM_001265592.1:c.3064G>C, NM_001265593.1:c.3034G>C, NM_001265594.1:c.2737+90G>C, NM_003790.2:c.-1902G>C, NM_020631.3:c.2827G>C, NM_020631.4:c.2827G>C, NM_148965.1:c.-1902G>C, NM_148966.1:c.-1902G>C, NM_148967.1:c.-1902G>C, NM_148970.1:c.-1902G>C, NM_198681.2:c.3058G>C, NM_198681.3:c.3058G>C, XM_005263485.1:c.2481-116G>C, XM_005263516.1:c.-1524G>C, XM_005263517.1:c.-1524G>C, XM_005263518.1:c.-2410G>C, XM_005263519.1:c.-2918G>CBenign05/13/2016 
44PLEKHG5Ex20NM_020631.4:c.2867G>Ap.Arg956Lys | p.R956KNM_001039664.1:c.-1862G>A, NM_001042663.1:c.3035G>A, NM_001042664.1:c.2867G>A, NM_001042665.1:c.2867G>A, NM_001265592.1:c.3104G>A, NM_001265593.1:c.3074G>A, NM_001265594.1:c.2738-71G>A, NM_003790.2:c.-1862G>A, NM_020631.3:c.2867G>A, NM_020631.4:c.2867G>A, NM_148965.1:c.-1862G>A, NM_148966.1:c.-1862G>A, NM_148967.1:c.-1862G>A, NM_148970.1:c.-1862G>A, NM_198681.2:c.3098G>A, NM_198681.3:c.3098G>A, XM_005263485.1:c.2481-76G>A, XM_005263516.1:c.-1484G>A, XM_005263517.1:c.-1484G>A, XM_005263518.1:c.-2370G>A, XM_005263519.1:c.-2878G>AVOUS02/13/2015

* 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.