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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  
1CHD8Ex1NM_001170629.1:c.27C>Tp.Phe9= | p.F9=NM_001170629.1:c.27C>T, NM_020920.2:c.6+194C>T, NM_020920.3:c.6+194C>T, XM_005267923.1:c.27C>T, XM_005267924.1:c.27C>T, XM_005267925.1:c.27C>T, XM_005267926.1:c.27C>T, XM_005267927.1:c.27C>T, XM_005267928.1:c.-4087C>TBenign03/26/2015 
2CHD8Ex1NM_001170629.1:c.254C>Tp.Pro85Leu | p.P85LNM_001170629.1:c.254C>T, NM_020920.2:c.6+421C>T, NM_020920.3:c.6+421C>T, XM_005267923.1:c.254C>T, XM_005267924.1:c.254C>T, XM_005267925.1:c.254C>T, XM_005267926.1:c.254C>T, XM_005267927.1:c.254C>T, XM_005267928.1:c.-3860C>TVOUS04/19/2016
3CHD8Ex1NM_001170629.1:c.262G>Ap.Glu88Lys | p.E88KNM_001170629.1:c.262G>A, NM_020920.2:c.6+429G>A, NM_020920.3:c.6+429G>A, XM_005267923.1:c.262G>A, XM_005267924.1:c.262G>A, XM_005267925.1:c.262G>A, XM_005267926.1:c.262G>A, XM_005267927.1:c.262G>A, XM_005267928.1:c.-3852G>ALikely benign01/14/2016 
4CHD8Ex1NM_001170629.1:c.341C>Tp.Thr114Met | p.T114MNM_001170629.1:c.341C>T, NM_020920.2:c.6+508C>T, NM_020920.3:c.6+508C>T, XM_005267923.1:c.341C>T, XM_005267924.1:c.341C>T, XM_005267925.1:c.341C>T, XM_005267926.1:c.341C>T, XM_005267927.1:c.341C>T, XM_005267928.1:c.-3773C>TVOUS12/08/2015
5CHD8Ex1NM_001170629.1:c.456A>Gp.Pro152= | p.P152=NM_001170629.1:c.456A>G, NM_020920.2:c.6+623A>G, NM_020920.3:c.6+623A>G, XM_005267923.1:c.456A>G, XM_005267924.1:c.456A>G, XM_005267925.1:c.456A>G, XM_005267926.1:c.456A>G, XM_005267927.1:c.456A>G, XM_005267928.1:c.-3658A>GVOUS02/13/2015
6CHD8Ex1NM_001170629.1:c.621C>Tp.Thr207= | p.T207=NM_001170629.1:c.621C>T, NM_020920.2:c.6+788C>T, NM_020920.3:c.6+788C>T, XM_005267923.1:c.621C>T, XM_005267924.1:c.621C>T, XM_005267925.1:c.621C>T, XM_005267926.1:c.621C>T, XM_005267927.1:c.621C>T, XM_005267928.1:c.-3493C>TVOUS11/24/2015
7CHD8Ex2NM_001170629.1:c.871C>Tp.Leu291Phe | p.L291FNM_001170629.1:c.871C>T, NM_020920.2:c.34C>T, NM_020920.3:c.34C>T, XM_005267923.1:c.871C>T, XM_005267924.1:c.871C>T, XM_005267925.1:c.871C>T, XM_005267926.1:c.871C>T, XM_005267927.1:c.871C>T, XM_005267928.1:c.-1778C>TLikely benign10/06/2015 
8CHD8Ex3NM_001170629.1:c.1293A>Cp.Ser431= | p.S431=NM_001170629.1:c.1293A>C, NM_020920.2:c.456A>C, NM_020920.3:c.456A>C, XM_005267923.1:c.1293A>C, XM_005267924.1:c.1293A>C, XM_005267925.1:c.1293A>C, XM_005267926.1:c.1293A>C, XM_005267927.1:c.1293A>C, XM_005267928.1:c.-647A>CVOUS09/16/2015
9CHD8Ex3NM_001170629.1:c.1325G>Ap.Gly442Glu | p.G442ENM_001170629.1:c.1325G>A, NM_020920.2:c.488G>A, NM_020920.3:c.488G>A, XM_005267923.1:c.1325G>A, XM_005267924.1:c.1325G>A, XM_005267925.1:c.1325G>A, XM_005267926.1:c.1325G>A, XM_005267927.1:c.1325G>A, XM_005267928.1:c.-615G>AVOUS10/30/2015
10CHD8Ex3NM_001170629.1:c.1407T>Cp.Ile469= | p.I469=NM_001170629.1:c.1407T>C, NM_020920.2:c.570T>C, NM_020920.3:c.570T>C, XM_005267923.1:c.1407T>C, XM_005267924.1:c.1407T>C, XM_005267925.1:c.1407T>C, XM_005267926.1:c.1407T>C, XM_005267927.1:c.1407T>C, XM_005267928.1:c.-533T>CVOUS04/08/2015
11CHD8Ex5NM_001170629.1:c.1717-4A>GNM_001170629.1:c.1717-4A>G, NM_020920.2:c.880-4A>G, NM_020920.3:c.880-4A>G, XM_005267923.1:c.1717-4A>G, XM_005267924.1:c.1717-4A>G, XM_005267925.1:c.1717-4A>G, XM_005267926.1:c.1717-4A>G, XM_005267927.1:c.1717-4A>G, XM_005267928.1:c.46-4A>GLikely benign07/12/2018 
12CHD8Ex12NM_001170629.1:c.2691G>Ap.Gln897= | p.Q897=NM_001170629.1:c.2691G>A, NM_020920.2:c.1854G>A, NM_020920.3:c.1854G>A, XM_005267923.1:c.2691G>A, XM_005267924.1:c.2691G>A, XM_005267925.1:c.2691G>A, XM_005267926.1:c.2691G>A, XM_005267927.1:c.2691G>A, XM_005267928.1:c.1020G>AVOUS07/10/2018
13CHD8Ex15NM_001170629.1:c.3152T>Gp.Val1051Gly | p.V1051GNM_001170629.1:c.3152T>G, NM_020920.2:c.2315T>G, NM_020920.3:c.2315T>G, XM_005267923.1:c.3152T>G, XM_005267924.1:c.3152T>G, XM_005267925.1:c.3152T>G, XM_005267926.1:c.3152T>G, XM_005267927.1:c.3152T>G, XM_005267928.1:c.1481T>GVOUS05/26/2015
14CHD8Ex21NM_001170629.1:c.4304A>Tp.His1435Leu | p.H1435LNM_001170629.1:c.4304A>T, NM_020920.2:c.3467A>T, NM_020920.3:c.3467A>T, NR_002916.2:n.-3540A>T, XM_005267923.1:c.4304A>T, XM_005267924.1:c.4304A>T, XM_005267925.1:c.4304A>T, XM_005267926.1:c.4304A>T, XM_005267927.1:c.4304A>T, XM_005267928.1:c.2633A>TVOUS08/08/2017
15CHD8Ex23NM_001170629.1:c.4581C>Tp.Ile1527= | p.I1527=NM_001170629.1:c.4581C>T, NM_020920.2:c.3744C>T, NM_020920.3:c.3744C>T, NR_002916.2:n.-2896C>T, XM_005267923.1:c.4605C>T, XM_005267924.1:c.4605C>T, XM_005267925.1:c.4605C>T, XM_005267926.1:c.4581C>T, XM_005267927.1:c.4605C>T, XM_005267928.1:c.2934C>TVOUS04/03/2018
16CHD8Ex25NM_001170629.1:c.4921+5G>ANM_001170629.1:c.4921+5G>A, NM_020920.2:c.4084+5G>A, NM_020920.3:c.4084+5G>A, NR_002916.2:n.-2196G>A, XM_005267923.1:c.4945+5G>A, XM_005267924.1:c.4945+5G>A, XM_005267925.1:c.4945+5G>A, XM_005267926.1:c.4921+5G>A, XM_005267927.1:c.4945+5G>A, XM_005267928.1:c.3274+5G>ABenign06/06/2019 
17CHD8Ex27NM_001170629.1:c.5127+1G>ANM_001170629.1:c.5127+1G>A, NM_020920.2:c.4290+1G>A, NM_020920.3:c.4290+1G>A, NR_002916.2:n.*1477G>A, NR_003029.2:n.-3563G>A, XM_005267923.1:c.5151+1G>A, XM_005267924.1:c.5151+1G>A, XM_005267925.1:c.5151+1G>A, XM_005267926.1:c.5127+1G>A, XM_005267927.1:c.5151+1G>A, XM_005267928.1:c.3480+1G>ALikely pathogenic09/22/2014 
18CHD8Ex28NM_001170629.1:c.5141T>Cp.Met1714Thr | p.M1714TNM_001170629.1:c.5141T>C, NM_020920.2:c.4304T>C, NM_020920.3:c.4304T>C, NR_002916.2:n.*1954T>C, NR_003029.2:n.-3086T>C, XM_005267923.1:c.5165T>C, XM_005267924.1:c.5165T>C, XM_005267925.1:c.5165T>C, XM_005267926.1:c.5141T>C, XM_005267927.1:c.5165T>C, XM_005267928.1:c.3494T>CVOUS12/15/2016
19CHD8Ex29NM_001170629.1:c.5266dupTp.Tyr1756Leufs*26 | p.Y1756LfsX26NM_001170629.1:c.5266_5267insT, NM_001170629.1:c.5266dupT, NM_020920.2:c.4429_4430insT, NM_020920.2:c.4429dupT, NM_020920.3:c.4429_4430insT, NM_020920.3:c.4429dupT, NR_002916.2:n.*2257_*2258insT, NR_002916.2:n.*2257dupT, NR_003029.2:n.-2783_-2782insT, NR_003029.2:n.-2783dupT, XM_005267923.1:c.5290_5291insT, XM_005267923.1:c.5290dupT, XM_005267924.1:c.5290_5291insT, XM_005267924.1:c.5290dupT, XM_005267925.1:c.5290_5291insT, XM_005267925.1:c.5290dupT, XM_005267926.1:c.5266_5267insT, XM_005267926.1:c.5266dupT, XM_005267927.1:c.5290_5291insT, XM_005267927.1:c.5290dupT, XM_005267928.1:c.3619_3620insT, XM_005267928.1:c.3619dupTPathogenic08/23/2018 
20CHD8Ex29NM_001170629.1:c.5346A>Gp.Ala1782= | p.A1782=NM_001170629.1:c.5346A>G, NM_020920.2:c.4509A>G, NM_020920.3:c.4509A>G, NR_002916.2:n.*2337A>G, NR_003029.2:n.-2703A>G, XM_005267923.1:c.5370A>G, XM_005267924.1:c.5370A>G, XM_005267925.1:c.5370A>G, XM_005267926.1:c.5346A>G, XM_005267927.1:c.5370A>G, XM_005267928.1:c.3699A>GVOUS04/08/2015
21CHD8Ex29NM_001170629.1:c.5390+10A>TNM_001170629.1:c.5390+10A>T, NM_020920.2:c.4553+10A>T, NM_020920.3:c.4553+10A>T, NR_002916.2:n.*2391A>T, NR_003029.2:n.-2649A>T, XM_005267923.1:c.5414+10A>T, XM_005267924.1:c.5414+10A>T, XM_005267925.1:c.5414+10A>T, XM_005267926.1:c.5390+10A>T, XM_005267927.1:c.5414+10A>T, XM_005267928.1:c.3743+10A>TVOUS05/12/2016
22CHD8Ex30NM_001170629.1:c.5402G>Ap.Arg1801His | p.R1801HNM_001170629.1:c.5402G>A, NM_020920.2:c.4565G>A, NM_020920.3:c.4565G>A, NR_002916.2:n.*2819G>A, NR_003029.2:n.-2221G>A, XM_005267923.1:c.5426G>A, XM_005267924.1:c.5426G>A, XM_005267925.1:c.5426G>A, XM_005267926.1:c.5402G>A, XM_005267927.1:c.5426G>A, XM_005267928.1:c.3755G>AVOUS07/26/2016
23CHD8Ex31NM_001170629.1:c.5659C>Gp.Leu1887Val | p.L1887VNM_001170629.1:c.5659C>G, NM_020920.2:c.4822C>G, NM_020920.3:c.4822C>G, NR_002916.2:n.*3157C>G, NR_003029.2:n.-1883C>G, XM_005267923.1:c.5683C>G, XM_005267924.1:c.5683C>G, XM_005267925.1:c.5683C>G, XM_005267926.1:c.5659C>G, XM_005267927.1:c.5683C>G, XM_005267928.1:c.4012C>GVOUS02/11/2016
24CHD8Ex31NM_001170629.1:c.5894T>Ap.Met1965Lys | p.M1965KNM_001170629.1:c.5894T>A, NM_020920.2:c.5057T>A, NM_020920.3:c.5057T>A, NR_002916.2:n.*3392T>A, NR_003029.2:n.-1648T>A, XM_005267923.1:c.5918T>A, XM_005267924.1:c.5918T>A, XM_005267925.1:c.5918T>A, XM_005267926.1:c.5894T>A, XM_005267927.1:c.5918T>A, XM_005267928.1:c.4247T>AVOUS10/15/2019
25CHD8Ex31NM_001170629.1:c.6008C>Gp.Ala2003Gly | p.A2003GNM_001170629.1:c.6008C>G, NM_020920.2:c.5171C>G, NM_020920.3:c.5171C>G, NR_002916.2:n.*3506C>G, NR_003029.2:n.-1534C>G, XM_005267923.1:c.6032C>G, XM_005267924.1:c.6032C>G, XM_005267925.1:c.6032C>G, XM_005267926.1:c.6008C>G, XM_005267927.1:c.6032C>G, XM_005267928.1:c.4361C>GVOUS03/01/2016
26CHD8Ex31NM_001170629.1:c.6035C>Tp.Thr2012Ile | p.T2012INM_001170629.1:c.6035C>T, NM_020920.2:c.5198C>T, NM_020920.3:c.5198C>T, NR_002916.2:n.*3533C>T, NR_003029.2:n.-1507C>T, XM_005267923.1:c.6059C>T, XM_005267924.1:c.6059C>T, XM_005267925.1:c.6059C>T, XM_005267926.1:c.6035C>T, XM_005267927.1:c.6059C>T, XM_005267928.1:c.4388C>TVOUS02/02/2016
27CHD8Ex31NM_001170629.1:c.6085G>Ap.Glu2029Lys | p.E2029KNM_001170629.1:c.6085G>A, NM_020920.2:c.5248G>A, NM_020920.3:c.5248G>A, NR_002916.2:n.*3583G>A, NR_003029.2:n.-1457G>A, XM_005267923.1:c.6109G>A, XM_005267924.1:c.6109G>A, XM_005267925.1:c.6109G>A, XM_005267926.1:c.6085G>A, XM_005267927.1:c.6109G>A, XM_005267928.1:c.4438G>AVOUS02/17/2015
28CHD8Ex31NM_001170629.1:c.6119A>Gp.Asp2040Gly | p.D2040GNM_001170629.1:c.6119A>G, NM_020920.2:c.5282A>G, NM_020920.3:c.5282A>G, NR_002916.2:n.*3617A>G, NR_003029.2:n.-1423A>G, XM_005267923.1:c.6143A>G, XM_005267924.1:c.6143A>G, XM_005267925.1:c.6143A>G, XM_005267926.1:c.6119A>G, XM_005267927.1:c.6143A>G, XM_005267928.1:c.4472A>GBenign04/24/2015 
29CHD8Ex31NM_001170629.1:c.6232C>Tp.Leu2078= | p.L2078=NM_001170629.1:c.6232C>T, NM_020920.2:c.5395C>T, NM_020920.3:c.5395C>T, NR_002916.2:n.*3730C>T, NR_003029.2:n.-1310C>T, XM_005267923.1:c.6256C>T, XM_005267924.1:c.6256C>T, XM_005267925.1:c.6256C>T, XM_005267926.1:c.6232C>T, XM_005267927.1:c.6256C>T, XM_005267928.1:c.4585C>TBenign04/28/2015 
30CHD8Ex32NM_001170629.1:c.6392C>Tp.Pro2131Leu | p.P2131LNM_001170629.1:c.6392C>T, NM_020920.2:c.5555C>T, NM_020920.3:c.5555C>T, NR_002916.2:n.*4111C>T, NR_003029.2:n.-929C>T, XM_005267923.1:c.6416C>T, XM_005267924.1:c.6416C>T, XM_005267925.1:c.6416C>T, XM_005267926.1:c.6392C>T, XM_005267927.1:c.6416C>T, XM_005267928.1:c.4745C>TVOUS03/31/2015
31CHD8Ex32NM_001170629.1:c.6447A>Gp.Gln2149= | p.Q2149=NM_001170629.1:c.6447A>G, NM_020920.2:c.5610A>G, NM_020920.3:c.5610A>G, NR_002916.2:n.*4166A>G, NR_003029.2:n.-874A>G, XM_005267923.1:c.6471A>G, XM_005267924.1:c.6471A>G, XM_005267925.1:c.6471A>G, XM_005267926.1:c.6447A>G, XM_005267927.1:c.6471A>G, XM_005267928.1:c.4800A>GVOUS01/30/2015
32CHD8Ex33NM_001170629.1:c.6473G>Ap.Arg2158His | p.R2158HNM_001170629.1:c.6473G>A, NM_020920.2:c.5636G>A, NM_020920.3:c.5636G>A, NR_002916.2:n.*4488G>A, NR_003029.2:n.-552G>A, XM_005267923.1:c.6497G>A, XM_005267924.1:c.6497G>A, XM_005267925.1:c.6497G>A, XM_005267926.1:c.6473G>A, XM_005267927.1:c.6497G>A, XM_005267928.1:c.4826G>AVOUS11/15/2016
33CHD8Ex33NM_001170629.1:c.6650G>Ap.Arg2217Gln | p.R2217QNM_001170629.1:c.6650G>A, NM_020920.2:c.5813G>A, NM_020920.3:c.5813G>A, NR_002916.2:n.*4665G>A, NR_003029.2:n.-375G>A, XM_005267923.1:c.6674G>A, XM_005267924.1:c.6674G>A, XM_005267925.1:c.6674G>A, XM_005267926.1:c.6650G>A, XM_005267927.1:c.6674G>A, XM_005267928.1:c.5003G>ABenign01/27/2017 
34CHD8Ex34NM_001170629.1:c.6870A>Cp.Arg2290Ser | p.R2290SNM_001170629.1:c.6870A>C, NM_020920.2:c.6033A>C, NM_020920.3:c.6033A>C, NR_003029.2:n.*303A>C, XM_005267923.1:c.6894A>C, XM_005267924.1:c.6894A>C, XM_005267925.1:c.6894A>C, XM_005267926.1:c.6870A>C, XM_005267927.1:c.6894A>C, XM_005267928.1:c.5223A>CVOUS07/10/2018
35CHD8Ex35NM_001170629.1:c.7036G>Ap.Glu2346Lys | p.E2346KNM_001170629.1:c.7036G>A, NM_020920.2:c.6199G>A, NM_020920.3:c.6199G>A, NR_003029.2:n.*659G>A, XM_005267923.1:c.7060G>A, XM_005267924.1:c.7060G>A, XM_005267925.1:c.7060G>A, XM_005267926.1:c.7036G>A, XM_005267927.1:c.6909+341G>A, XM_005267928.1:c.5389G>ABenign07/21/2017 
36CHD8Ex37NM_001170629.1:c.7199C>Tp.Thr2400Met | p.T2400MNM_001170629.1:c.7199C>T, NM_007192.3:c.-2233C>T, NM_020920.2:c.6362C>T, NM_020920.3:c.6362C>T, XM_005267923.1:c.7223C>T, XM_005267924.1:c.7223C>T, XM_005267925.1:c.7223C>T, XM_005267926.1:c.7199C>T, XM_005267927.1:c.7043C>T, XM_005267928.1:c.5552C>T, XR_041035.2:n.*1235G>AVOUS08/09/2019
37CHD8Ex37NM_001170629.1:c.7228A>Gp.Ile2410Val | p.I2410VNM_001170629.1:c.7228A>G, NM_007192.3:c.-2204A>G, NM_020920.2:c.6391A>G, NM_020920.3:c.6391A>G, XM_005267923.1:c.7252A>G, XM_005267924.1:c.7252A>G, XM_005267925.1:c.7252A>G, XM_005267926.1:c.7228A>G, XM_005267927.1:c.7072A>G, XM_005267928.1:c.5581A>G, XR_041035.2:n.*1206T>CVOUS08/28/2019
38CHD8Ex37NM_001170629.1:c.7620C>Tp.Asp2540= | p.D2540=NM_001170629.1:c.7620C>T, NM_007192.3:c.-1812C>T, NM_020920.2:c.6783C>T, NM_020920.3:c.6783C>T, XM_005267923.1:c.7644C>T, XM_005267924.1:c.7644C>T, XM_005267925.1:c.7644C>T, XM_005267926.1:c.7620C>T, XM_005267927.1:c.7464C>T, XM_005267928.1:c.5973C>T, XR_041035.2:n.*814G>AVOUS05/28/2015

* 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.