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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  
1IGHMBP2Ex1NM_002180.2:c.-2C>TLRG_250t1:c.-2C>T, NM_002180.2:c.-2C>T, NM_181514.1:c.-141G>A, NM_181515.1:c.-409G>A, XM_005273823.1:c.-141G>A, XM_005273974.1:c.-1017C>T, XM_005273976.1:c.-2C>T, XM_005273977.1:c.-2C>T, XR_247190.1:n.-132G>A, XR_247198.1:n.101C>TBenign04/29/2016 
2IGHMBP2Ex1NM_002180.2:c.57T>Cp.Leu19= | p.L19=LRG_250t1:c.57T>C, NM_002180.2:c.57T>C, NM_181514.1:c.-199A>G, NM_181515.1:c.-467A>G, XM_005273823.1:c.-199A>G, XM_005273974.1:c.-959T>C, XM_005273976.1:c.57T>C, XM_005273977.1:c.57T>C, XR_247190.1:n.-190A>G, XR_247198.1:n.159T>CBenign04/29/2016 
3IGHMBP2Ex2NM_002180.2:c.127C>Tp.Arg43* | p.R43XLRG_250t1:c.127C>T, NM_002180.2:c.127C>T, NM_181514.1:c.-2299G>A, NM_181515.1:c.-2567G>A, XM_005273823.1:c.-2299G>A, XM_005273974.1:c.-889C>T, XM_005273976.1:c.127C>T, XM_005273977.1:c.127C>T, XR_247190.1:n.-2290G>A, XR_247198.1:n.229C>TPathogenic09/20/2016 
4IGHMBP2Ex2NM_002180.2:c.132C>Tp.Gly44= | p.G44=NM_002180.2:c.132C>T, NM_181514.1:c.-2304G>A, NM_181515.1:c.-2572G>A, XM_005273823.1:c.-2304G>A, XM_005273974.1:c.-884C>T, XM_005273976.1:c.132C>T, XM_005273977.1:c.132C>T, XR_247190.1:n.-2295G>A, XR_247198.1:n.234C>TBenign03/06/2015 
5IGHMBP2Ex2NM_002180.2:c.151C>Gp.Gln51Glu | p.Q51ENM_002180.2:c.151C>G, NM_181514.1:c.-2323G>C, NM_181515.1:c.-2591G>C, XM_005273823.1:c.-2323G>C, XM_005273974.1:c.-865C>G, XM_005273976.1:c.151C>G, XM_005273977.1:c.151C>G, XR_247190.1:n.-2314G>C, XR_247198.1:n.253C>GBenign12/22/2015 
6IGHMBP2Ex2NM_002180.2:c.229G>Cp.Ala77Pro | p.A77PNM_002180.2:c.229G>C, NM_181514.1:c.-2401C>G, NM_181515.1:c.-2669C>G, XM_005273823.1:c.-2401C>G, XM_005273974.1:c.-787G>C, XM_005273976.1:c.229G>C, XM_005273977.1:c.229G>C, XR_247190.1:n.-2392C>G, XR_247198.1:n.331G>CVOUS12/12/2014
7IGHMBP2Ex2NM_002180.2:c.242delAp.Asn81Thrfs*26 | p.N81TfsX26LRG_250t1:c.242delA, NM_002180.2:c.242delA, NM_181514.1:c.-2414delT, NM_181515.1:c.-2682delT, XM_005273823.1:c.-2414delT, XM_005273974.1:c.-774delA, XM_005273976.1:c.242delA, XM_005273977.1:c.242delA, XR_247190.1:n.-2405delT, XR_247198.1:n.344delAPathogenic08/09/2017 
8IGHMBP2Ex2NM_002180.2:c.256+9G>ANM_002180.2:c.256+9G>A, NM_181514.1:c.-2437C>T, NM_181515.1:c.-2705C>T, XM_005273823.1:c.-2437C>T, XM_005273974.1:c.-756+5G>A, XM_005273976.1:c.256+9G>A, XM_005273977.1:c.256+9G>A, XR_247190.1:n.-2428C>T, XR_247198.1:n.358+9G>ABenign01/07/2016 
9IGHMBP2Ex3NM_002180.2:c.344C>Tp.Thr115Met | p.T115MLRG_250t1:c.344C>T, NM_002180.2:c.344C>T, NM_181514.1:c.-4422G>A, NM_181515.1:c.-4690G>A, XM_005273823.1:c.-4422G>A, XM_005273974.1:c.-668C>T, XM_005273976.1:c.344C>T, XM_005273977.1:c.344C>T, XR_247190.1:n.-4413G>A, XR_247198.1:n.446C>TBenign06/23/2016 
10IGHMBP2Ex6NM_002180.2:c.741C>Tp.Ala247= | p.A247=NM_002180.2:c.741C>T, XM_005273974.1:c.-271C>T, XM_005273976.1:c.741C>T, XM_005273977.1:c.741C>T, XR_247198.1:n.843C>TBenign11/14/2014 
11IGHMBP2Ex6NM_002180.2:c.808C>Tp.Arg270Cys | p.R270CNM_002180.2:c.808C>T, XM_005273974.1:c.-204C>T, XM_005273976.1:c.808C>T, XM_005273977.1:c.808C>T, XR_247198.1:n.910C>TVOUS03/09/2015
12IGHMBP2Ex6NM_002180.2:c.832C>Gp.His278Asp | p.H278DNM_002180.2:c.832C>G, XM_005273974.1:c.-180C>G, XM_005273976.1:c.832C>G, XM_005273977.1:c.832C>G, XR_247198.1:n.934C>GVOUS11/26/2014
13IGHMBP2Ex6NM_002180.2:c.855G>Ap.Ala285= | p.A285=NM_002180.2:c.855G>A, XM_005273974.1:c.-157G>A, XM_005273976.1:c.855G>A, XM_005273977.1:c.855G>A, XR_247198.1:n.957G>AVOUS04/16/2015
14IGHMBP2Ex7NM_002180.2:c.1060G>Ap.Gly354Ser | p.G354SLRG_250t1:c.1060G>A, NM_002180.2:c.1060G>A, XM_005273974.1:c.49G>A, XM_005273976.1:c.1060G>A, XM_005273977.1:c.1060G>A, XR_247198.1:n.1162G>ALikely pathogenic10/12/2016 
15IGHMBP2Ex7NM_002180.2:c.1060+8G>TNM_002180.2:c.1060+8G>T, XM_005273974.1:c.49+8G>T, XM_005273976.1:c.1060+8G>T, XM_005273977.1:c.1060+8G>T, XR_247198.1:n.1162+8G>TVOUS11/06/2015
16IGHMBP2Ex8NM_002180.2:c.1064C>Tp.Ala355Val | p.A355VLRG_250t1:c.1064C>T, NM_002180.2:c.1064C>T, XM_005273974.1:c.53C>T, XM_005273975.1:c.-1142C>T, XM_005273976.1:c.1064C>T, XM_005273977.1:c.1064C>T, XR_247198.1:n.1166C>TVOUS01/26/2017
17IGHMBP2Ex8NM_002180.2:c.1104C>Tp.Tyr368= | p.Y368=NM_002180.2:c.1104C>T, XM_005273974.1:c.93C>T, XM_005273975.1:c.-1102C>T, XM_005273976.1:c.1104C>T, XM_005273977.1:c.1104C>T, XR_247198.1:n.1206C>TBenign11/14/2014 
18IGHMBP2Ex8NM_002180.2:c.1106T>Ap.Phe369Tyr | p.F369YLRG_250t1:c.1106T>A, NM_002180.2:c.1106T>A, XM_005273974.1:c.95T>A, XM_005273975.1:c.-1100T>A, XM_005273976.1:c.1106T>A, XM_005273977.1:c.1106T>A, XR_247198.1:n.1208T>AVOUS04/14/2017
19IGHMBP2Ex8NM_002180.2:c.1193C>Tp.Ala398Val | p.A398VLRG_250t1:c.1193C>T, NM_002180.2:c.1193C>T, XM_005273974.1:c.182C>T, XM_005273975.1:c.-1013C>T, XM_005273976.1:c.1193C>T, XM_005273977.1:c.1193C>T, XR_247198.1:n.1295C>TVOUS09/22/2017
20IGHMBP2Ex9NM_002180.2:c.1334A>Cp.His445Pro | p.H445PLRG_250t1:c.1334A>C, NM_002180.2:c.1334A>C, XM_005273974.1:c.323A>C, XM_005273975.1:c.206A>C, XM_005273976.1:c.*3276A>C, XM_005273977.1:c.*3276A>C, XR_247198.1:n.2137A>CLikely pathogenic02/15/2020 
21IGHMBP2Ex9NM_002180.2:c.1398C>Tp.Ser466= | p.S466=LRG_250t1:c.1398C>T, NM_002180.2:c.1398C>T, XM_005273974.1:c.387C>T, XM_005273975.1:c.270C>T, XM_005273976.1:c.*3340C>T, XM_005273977.1:c.*3340C>T, XR_247198.1:n.*63C>TVOUS12/29/2016
22IGHMBP2Ex10NM_002180.2:c.1488C>Ap.Cys496* | p.C496XNM_002180.2:c.1488C>A, XM_005273974.1:c.477C>A, XM_005273975.1:c.360C>A, XM_005273976.1:c.*3743C>A, XM_005273977.1:c.*3743C>A, XR_247198.1:n.*466C>APathogenic10/26/2015 
23IGHMBP2Ex11NM_002180.2:c.1546C>Tp.Arg516Cys | p.R516CNM_002180.2:c.1546C>T, XM_005273974.1:c.535C>T, XM_005273975.1:c.418C>T, XM_005273976.1:c.*4351C>T, XM_005273977.1:c.*4351C>T, XR_247198.1:n.*1074C>TVOUS11/17/2014
24IGHMBP2Ex11NM_002180.2:c.1581C>Tp.Asp527= | p.D527=LRG_250t1:c.1581C>T, NM_002180.2:c.1581C>T, XM_005273974.1:c.570C>T, XM_005273975.1:c.453C>T, XM_005273976.1:c.*4386C>T, XM_005273977.1:c.*4386C>T, XR_247198.1:n.*1109C>TBenign09/30/2016 
25IGHMBP2Ex11NM_002180.2:c.1603A>Gp.Ile535Val | p.I535VLRG_250t1:c.1603A>G, NM_002180.2:c.1603A>G, XM_005273974.1:c.592A>G, XM_005273975.1:c.475A>G, XM_005273976.1:c.*4408A>G, XM_005273977.1:c.*4408A>G, XR_247198.1:n.*1131A>GVOUS05/15/2018
26IGHMBP2Ex12NM_002180.2:c.1737C>Tp.Phe579= | p.F579=NM_002180.2:c.1737C>T, XM_005273974.1:c.726C>T, XM_005273975.1:c.609C>T, XM_005273976.1:c.*5282C>T, XM_005273977.1:c.*5282C>T, XR_247198.1:n.*2005C>TVOUS02/04/2016
27IGHMBP2Ex13NM_002180.2:c.1813C>Tp.Arg605* | p.R605XLRG_250t1:c.1813C>T, NM_002180.2:c.1813C>T, XM_005273974.1:c.802C>T, XM_005273975.1:c.685C>T, XR_247198.1:n.*2895C>TPathogenic02/08/2019 
28IGHMBP2Ex13NM_002180.2:c.2080C>Tp.Arg694Trp | p.R694WNM_002180.2:c.2080C>T, XM_005273974.1:c.1069C>T, XM_005273975.1:c.952C>T, XR_247198.1:n.*3162C>TBenign07/17/2015 
29IGHMBP2Ex13NM_002180.2:c.2090C>Tp.Pro697Leu | p.P697LLRG_250t1:c.2090C>T, NM_002180.2:c.2090C>T, XM_005273974.1:c.1079C>T, XM_005273975.1:c.962C>T, XR_247198.1:n.*3172C>TVOUS04/19/2017
30IGHMBP2Ex13NM_002180.2:c.2091G>Ap.Pro697= | p.P697=LRG_250t1:c.2091G>A, NM_002180.2:c.2091G>A, XM_005273974.1:c.1080G>A, XM_005273975.1:c.963G>A, XR_247198.1:n.*3173G>ABenign07/21/2016 
31IGHMBP2Ex13NM_002180.2:c.2176G>Ap.Val726Met | p.V726MLRG_250t1:c.2176G>A, NM_002180.2:c.2176G>A, XM_005273974.1:c.1165G>A, XM_005273975.1:c.1048G>A, XR_247198.1:n.*3258G>AVOUS06/03/2016
32IGHMBP2Ex13NM_002180.2:c.2197_2203delATAGTGGinsCANM_002180.2:c.2197_2203delinsCA, XM_005273974.1:c.1186_1192delinsCA, XM_005273975.1:c.1069_1075delinsCA, XR_247198.1:n.*3279_*3285delinsCAPathogenic07/17/2015 
33IGHMBP2Ex13NM_002180.2:c.2295C>Tp.His765= | p.H765=NM_002180.2:c.2295C>T, XM_005273974.1:c.1284C>T, XM_005273975.1:c.1167C>T, XR_247198.1:n.*3377C>TLikely benign11/19/2015 
34IGHMBP2Ex13NM_002180.2:c.2316C>Tp.Ser772= | p.S772=LRG_250t1:c.2316C>T, NM_002180.2:c.2316C>T, XR_247198.1:n.*3398C>TBenign09/28/2016 
35IGHMBP2Ex13NM_002180.2:c.2439G>Ap.Ala813= | p.A813=NM_002180.2:c.2439G>A, XM_005273974.1:c.1428G>A, XM_005273975.1:c.1311G>A, XR_247198.1:n.*3521G>ABenign12/09/2014 
36IGHMBP2Ex13NM_002180.2:c.2458A>Gp.Arg820Gly | p.R820GLRG_250t1:c.2458A>G, NM_002180.2:c.2458A>G, XM_005273974.1:c.1447A>G, XM_005273975.1:c.1330A>G, XR_247198.1:n.*3540A>GVOUS11/30/2017
37IGHMBP2Ex13NM_002180.2:c.2560C>Tp.Gln854* | p.Q854XNM_002180.2:c.2560C>T, XM_005273974.1:c.1549C>T, XM_005273975.1:c.1432C>T, XR_247198.1:n.*3642C>TPathogenic08/13/2015 
38IGHMBP2Ex13NM_002180.2:c.2598_2599delGAp.Lys868Serfs*16 | p.K868SfsX16LRG_250t1:c.2598_2599delGA, NM_002180.2:c.2598_2599delGA, XM_005273974.1:c.1587_1588delGA, XM_005273975.1:c.1470_1471delGA, XR_247198.1:n.*3680_*3681delGAPathogenic06/23/2016 
39IGHMBP2Ex14NM_002180.2:c.2618C>Tp.Pro873Leu | p.P873LNM_002180.2:c.2618C>T, XM_005273974.1:c.1607C>T, XM_005273975.1:c.1490C>T, XR_247198.1:n.*4790C>TVOUS04/16/2015
40IGHMBP2Ex14NM_002180.2:c.2636C>Ap.Thr879Lys | p.T879KNM_002180.2:c.2636C>A, XM_005273974.1:c.1625C>A, XM_005273975.1:c.1508C>A, XR_247198.1:n.*4808C>ABenign01/13/2015 
41IGHMBP2Ex14NM_002180.2:c.2643G>Ap.Glu881= | p.E881=LRG_250t1:c.2643G>A, NM_002180.2:c.2643G>A, XM_005273974.1:c.1632G>A, XM_005273975.1:c.1515G>A, XR_247198.1:n.*4815G>AVOUS10/11/2016
42IGHMBP2Ex14NM_002180.2:c.2730C>Gp.Gly910= | p.G910=NM_002180.2:c.2730C>G, XM_005273974.1:c.1719C>G, XM_005273975.1:c.1602C>G, XR_247198.1:n.*4902C>GBenign03/06/2015 
43IGHMBP2Ex15NM_002180.2:c.2793C>Tp.Gly931= | p.G931=NM_002180.2:c.2793C>T, XM_005273974.1:c.1782C>T, XM_005273975.1:c.1665C>TVOUS01/30/2015
44IGHMBP2Ex15NM_002180.2:c.2796C>Tp.Cys932= | p.C932=NM_002180.2:c.2796C>T, XM_005273974.1:c.1785C>T, XM_005273975.1:c.1668C>TVOUS04/07/2015
45IGHMBP2Ex15NM_002180.2:c.2818G>Ap.Ala940Thr | p.A940TLRG_250t1:c.2818G>A, NM_002180.2:c.2818G>A, XM_005273974.1:c.1807G>A, XM_005273975.1:c.1690G>AVOUS03/04/2016
46IGHMBP2Ex15NM_002180.2:c.2844G>Ap.Gly948= | p.G948=LRG_250t1:c.2844G>A, NM_002180.2:c.2844G>A, XM_005273974.1:c.1833G>A, XM_005273975.1:c.1716G>AVOUS08/08/2017
47IGHMBP2Ex15NM_002180.2:c.2868C>Tp.Thr956= | p.T956=LRG_250t1:c.2868C>T, NM_002180.2:c.2868C>T, XM_005273974.1:c.1857C>T, XM_005273975.1:c.1740C>TVOUS01/26/2017
48IGHMBP2Ex15NM_002180.2:c.2922T>Gp.Asp974Glu | p.D974ELRG_250t1:c.2922T>G, NM_002180.2:c.2922T>G, XM_005273974.1:c.1911T>G, XM_005273975.1:c.1794T>GVOUS08/12/2019

* 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.