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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  
1CYP21A2Ex1NM_000500.7:c.29_31delTGCNM_000500.5:c.29_31delTGC, NM_000500.7:c.29_31delTGC, NM_001002029.3:c.*3174_*3176delTGC, NM_001128590.1:c.29_31delTGC, NM_001128590.3:c.29_31delTGC, NM_019105.6:c.*2896_*2898delGCA, NM_032470.3:c.*2896_*2898delGCABenign01/21/2013 
2CYP21A2Ex1NM_000500.7:c.32_34insTGCLRG_138t1:c.*3177_*3179insTGC, LRG_829t1:c.32_34insTGC, NM_000500.5:c.32_34insTGC, NM_000500.7:c.32_34insTGC, NM_001002029.3:c.*3177_*3179insTGC, NM_001128590.1:c.32_34insTGC, NM_001128590.3:c.32_34insTGC, NM_019105.6:c.*2893_*2895insGCA, NM_032470.3:c.*2893_*2895insGCAVOUS**
3CYP21A2Ex1NM_000500.7:c.37_38insGBenign** 
4CYP21A2Ex1NM_000500.7:c.45C>Tp.Gly15= | p.G15=LRG_138t1:c.*3190C>T, LRG_829t1:c.45C>T, NM_000500.5:c.45C>T, NM_000500.7:c.45C>T, NM_001002029.3:c.*3190C>T, NM_001128590.1:c.45C>T, NM_001128590.3:c.45C>T, NM_019105.6:c.*2882G>A, NM_032470.3:c.*2882G>AVOUS03/14/2016
5CYP21A2Ex1NM_000500.7:c.118C>Tp.Leu40= | p.L40=LRG_138t1:c.*3263C>T, LRG_829t1:c.118C>T, NM_000500.5:c.118C>T, NM_000500.7:c.118C>T, NM_001002029.3:c.*3263C>T, NM_001128590.1:c.118C>T, NM_001128590.3:c.118C>T, NM_019105.6:c.*2809G>A, NM_032470.3:c.*2809G>ABenign** 
6CYP21A2Ex1NM_000500.7:c.138C>Ap.Pro46= | p.P46=Benign** 
7CYP21A2Ex1NM_000500.7:c.188A>Tp.His63Leu | p.H63LLRG_138t1:c.*3333A>T, LRG_829t1:c.188A>T, NM_000500.5:c.188A>T, NM_000500.7:c.188A>T, NM_001002029.3:c.*3333A>T, NM_001128590.1:c.188A>T, NM_001128590.3:c.188A>T, NM_019105.6:c.*2739T>A, NM_032470.3:c.*2739T>ABenign02/23/2015 
8CYP21A2Ex2NM_000500.7:c.227G>Ap.Arg76Lys | p.R76KVOUS**
9CYP21A2Ex2NM_000500.7:c.292+9C>TBenign** 
10CYP21A2Ex2NM_000500.7:c.292+33A>CBenign** 
11CYP21A2Ex3NM_000500.7:c.293-13C>ALRG_138t1:c.*3804C>A, NM_000500.5:c.293-13C>A, NM_000500.6:c.293-13C>A, NM_000500.7:c.293-13C>A, NM_001002029.3:c.*3804C>A, NM_001128590.1:c.203-13C>A, NM_001128590.2:c.203-13C>A, NM_001128590.3:c.203-13C>A, NM_001242823.1:c.*3804C>A, NM_001242823.2:c.*3804C>A, NM_019105.6:c.*2268G>T, NM_032470.3:c.*2268G>TBenign09/23/2014 
12CYP21A2Ex3NM_000500.7:c.293-13C>GLRG_138t1:c.*3804C>G, NM_000500.5:c.293-13C>G, NM_000500.7:c.293-13C>G, NM_001002029.3:c.*3804C>G, NM_001128590.1:c.203-13C>G, NM_001128590.3:c.203-13C>G, NM_019105.6:c.*2268G>C, NM_032470.3:c.*2268G>CPathogenic07/24/2015 
13CYP21A2Ex3NM_000500.7:c.293-4G>ALRG_138t1:c.*3813G>A, LRG_829t1:c.293-4G>A, NM_000500.5:c.293-4G>A, NM_000500.7:c.293-4G>A, NM_001002029.3:c.*3813G>A, NM_001128590.1:c.203-4G>A, NM_001128590.3:c.203-4G>A, NM_019105.6:c.*2259C>T, NM_032470.3:c.*2259C>TLikely benign08/15/2016 
14CYP21A2Ex3NM_000500.7:c.308G>Ap.Arg103Lys | p.R103KBenign** 
15CYP21A2Ex3NM_000500.7:c.318G>Cp.Pro106= | p.P106=LRG_138t1:c.*3842G>C, LRG_829t1:c.318G>C, NM_000500.5:c.318G>C, NM_000500.7:c.318G>C, NM_001002029.3:c.*3842G>C, NM_001128590.1:c.228G>C, NM_001128590.3:c.228G>C, NM_019105.6:c.*2230C>G, NM_032470.3:c.*2230C>GBenign** 
16CYP21A2Ex3NM_000500.7:c.327C>Gp.Ser109= | p.S109=VOUS**
17CYP21A2Ex3NM_000500.7:c.332_339delGAGACTALRG_138t1:c.*3856_*3863delGAGACTA, LRG_829t1:c.332_339delGAGACTA, NM_000500.5:c.332_339delGAGACTA, NM_000500.7:c.332_339delGAGACTA, NM_001002029.3:c.*3856_*3863delGAGACTA, NM_001128590.1:c.242_249delGAGACTA, NM_001128590.3:c.242_249delGAGACTA, NM_019105.6:c.*2209_*2216delTAGTCTC, NM_032470.3:c.*2209_*2216delTAGTCTCPathogenic** 
18CYP21A2Ex3NM_000500.7:c.342C>Tp.Ser114= | p.S114=LRG_138t1:c.*3866C>T, LRG_829t1:c.342C>T, NM_000500.5:c.342C>T, NM_000500.7:c.342C>T, NM_001002029.3:c.*3866C>T, NM_001128590.1:c.252C>T, NM_001128590.3:c.252C>T, NM_019105.6:c.*2206G>A, NM_032470.3:c.*2206G>AVOUS**
19CYP21A2Ex3NM_000500.7:c.447+38C>TBenign** 
20CYP21A2Ex4NM_000500.7:c.518T>Ap.Ile173Asn | p.I173NLRG_138t1:c.*4149T>A, LRG_829t1:c.518T>A, NM_000500.5:c.518T>A, NM_000500.7:c.518T>A, NM_001002029.3:c.*4149T>A, NM_001128590.1:c.428T>A, NM_001128590.3:c.428T>A, NM_019105.6:c.*1923A>T, NM_032470.3:c.*1923A>TPathogenic07/20/2018 
21CYP21A2Ex4NM_000500.7:c.549+17C>AVOUS**
22CYP21A2Ex5NM_000500.7:c.550-15C>ABenign** 
23CYP21A2Ex5NM_000500.7:c.550-8T>CBenign** 
24CYP21A2Ex5NM_000500.7:c.552C>Gp.Asp184Glu | p.D184EBenign** 
25CYP21A2Ex6NM_000500.7:c.729G>Ap.Arg243= | p.R243=VOUS**
26CYP21A2Ex6NM_000500.7:c.730C>Tp.Gln244* | p.Q244XLRG_138t1:c.*4550C>T, LRG_829t1:c.730C>T, NM_000500.5:c.730C>T, NM_000500.7:c.730C>T, NM_001002029.3:c.*4550C>T, NM_001128590.1:c.640C>T, NM_001128590.3:c.640C>T, NM_019105.6:c.*1522G>A, NM_032470.3:c.*1522G>APathogenic** 
27CYP21A2Ex6NM_000500.7:c.738+12A>GBenign** 
28CYP21A2Ex6NM_000500.7:c.738+13C>TBenign** 
29CYP21A2Ex7NM_000500.7:c.739-21C>TBenign** 
30CYP21A2Ex7NM_000500.7:c.747C>Gp.Leu249= | p.L249=LRG_138t1:c.*4736C>G, LRG_829t1:c.747C>G, NM_000500.5:c.747C>G, NM_000500.7:c.747C>G, NM_001002029.3:c.*4736C>G, NM_001128590.1:c.657C>G, NM_001128590.3:c.657C>G, NM_019105.6:c.*1336G>C, NM_032470.3:c.*1336G>CBenign** 
31CYP21A2Ex7NM_000500.7:c.797C>Tp.Ala266Val | p.A266VVOUS**
32CYP21A2Ex7NM_000500.7:c.806G>Cp.Ser269Thr | p.S269TLRG_138t1:c.*4795G>C, LRG_829t1:c.806G>C, NM_000500.5:c.806G>C, NM_000500.7:c.806G>C, NM_001002029.3:c.*4795G>C, NM_001128590.1:c.716G>C, NM_001128590.3:c.716G>C, NM_019105.6:c.*1277C>G, NM_032470.3:c.*1277C>GBenign** 
33CYP21A2Ex7NM_000500.7:c.844G>Tp.Val282Leu | p.V282LLRG_138t1:c.*4833G>T, LRG_829t1:c.844G>T, NM_000500.5:c.844G>T, NM_000500.7:c.844G>T, NM_001002029.3:c.*4833G>T, NM_001128590.1:c.754G>T, NM_001128590.3:c.754G>T, NM_019105.6:c.*1239C>A, NM_032470.3:c.*1239C>APathogenic04/23/2018 
34CYP21A2Ex7NM_000500.7:c.939+11G>CBenign** 
35CYP21A2Ex8NM_000500.7:c.955C>Tp.Gln319* | p.Q319XLRG_829t1:c.955C>T, NM_000500.5:c.955C>T, NM_000500.7:c.955C>T, NM_001128590.1:c.865C>T, NM_001128590.3:c.865C>T, NM_019105.6:c.*928G>A, NM_032470.3:c.*928G>APathogenic08/03/2017 
36CYP21A2Ex8NM_000500.7:c.1069C>Tp.Arg357Trp | p.R357WPathogenic** 
37CYP21A2Ex8NM_000500.7:c.1070G>Ap.Arg357Gln | p.R357QPathogenic** 
38CYP21A2Ex9NM_000500.7:c.1119-34G>ABenign** 
39CYP21A2Ex9NM_000500.7:c.1125C>Tp.Ser375= | p.S375=Benign** 
40CYP21A2Ex10NM_000500.7:c.1306C>Tp.Arg436Cys | p.R436CLRG_829t1:c.1306C>T, NM_000500.5:c.1306C>T, NM_000500.7:c.1306C>T, NM_001128590.1:c.1216C>T, NM_001128590.3:c.1216C>T, NM_019105.6:c.*397G>A, NM_032470.3:c.*397G>AVOUS02/14/2017
41CYP21A2Ex10NM_000500.7:c.1360C>Tp.Pro454Ser | p.P454SLRG_829t1:c.1360C>T, NM_000500.5:c.1360C>T, NM_000500.7:c.1360C>T, NM_001128590.1:c.1270C>T, NM_001128590.3:c.1270C>T, NM_019105.6:c.*343G>A, NM_032470.3:c.*343G>APathogenic11/27/2018 
42CYP21A2Ex10NM_000500.7:c.1439G>Tp.Arg480Leu | p.R480LLRG_829t1:c.1439G>T, NM_000500.5:c.1439G>T, NM_000500.7:c.1439G>T, NM_001128590.1:c.1349G>T, NM_001128590.3:c.1349G>T, NM_019105.6:c.*264C>A, NM_032470.3:c.*264C>AVOUS02/16/2017
43CYP21A2Ex10NM_000500.7:c.1447C>Tp.Pro483Ser | p.P483SLRG_829t1:c.1447C>T, NM_000500.5:c.1447C>T, NM_000500.7:c.1447C>T, NM_001128590.1:c.1357C>T, NM_001128590.3:c.1357C>T, NM_019105.6:c.*256G>A, NM_032470.3:c.*256G>APathogenic05/08/2018 
44CYP21A2Ex10NM_000500.7:c.1473G>Ap.Pro491= | p.P491=LRG_829t1:c.1473G>A, NM_000500.5:c.1473G>A, NM_000500.7:c.1473G>A, NM_001128590.1:c.1383G>A, NM_001128590.3:c.1383G>A, NM_019105.6:c.*230C>T, NM_032470.3:c.*230C>TBenign** 
45CYP21A2Ex10NM_000500.7:c.1481G>Ap.Ser494Asn | p.S494NLRG_829t1:c.1481G>A, NM_000500.5:c.1481G>A, NM_000500.7:c.1481G>A, NM_001128590.1:c.1391G>A, NM_001128590.3:c.1391G>A, NM_019105.6:c.*222C>T, NM_032470.3:c.*222C>TBenign07/06/2017 

* 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.2022-Q1.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.