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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  
1ACAT1Ex1NM_000019.3:c.-9T>ANM_000019.3:c.-9T>ABenign02/05/2016 
2ACAT1Ex1NM_000019.3:c.13G>Cp.Ala5Pro | p.A5PNM_000019.3:c.13G>CBenign02/05/2016 
3ACAT1Ex1NM_000019.3:c.-15C>GNM_000019.3:c.-15C>GBenign06/09/2014 
4ACAT1Ex1NM_000019.3:c.-22C>GBenign** 
5ACAT1Ex1NM_000019.3:c.60G>Cp.Arg20= | p.R20=NM_000019.3:c.60G>CVOUS07/08/2014
6ACAT1Ex2NM_000019.3:c.91C>Tp.Arg31Trp | p.R31WNM_000019.3:c.91C>TVOUS06/06/2013
7ACAT1Ex2NM_000019.3:c.99T>Ap.Tyr33* | p.Y33XPathogenic** 
8ACAT1Ex3NM_000019.3:c.155T>Cp.Ile52Thr | p.I52TVOUS**
9ACAT1Ex3NM_000019.3:c.203G>Tp.Gly68Val | p.G68VNM_000019.3:c.203G>TLikely pathogenic03/03/2015 
10ACAT1Ex3NM_000019.3:c.238+23G>ABenign** 
11ACAT1Ex4NM_000019.3:c.286C>Tp.Gln96* | p.Q96XPathogenic** 
12ACAT1Ex4NM_000019.3:c.320C>Ap.Ala107Glu | p.A107EVOUS**
13ACAT1Ex5NM_000019.3:c.410_417delCTCAAAGTCNM_000019.3:c.410_417delCTCAAAGTCPathogenic** 
14ACAT1Ex5NM_000019.3:c.410_417delCTCAAAGTNM_000019.3:c.410_417delCTCAAAGTPathogenic** 
15ACAT1Ex6NM_000019.3:c.436-4G>ANM_000019.3:c.436-4G>ABenign04/13/2015 
16ACAT1Ex6NM_000019.3:c.444_445delGGNM_000019.3:c.444_445delGGPathogenic12/16/2013 
17ACAT1Ex6NM_000019.3:c.455G>Cp.Gly152Ala | p.G152ANM_000019.3:c.455G>CLikely pathogenic02/04/2015 
18ACAT1Ex6NM_000019.3:c.471C>Ap.Ser157= | p.S157=NM_000019.3:c.471C>ABenign09/17/2014 
19ACAT1Ex6NM_000019.3:c.472A>Gp.Asn158Asp | p.N158DNM_000019.3:c.472A>GPathogenic08/09/2013 
20ACAT1Ex6NM_000019.3:c.473A>Gp.Asn158Ser | p.N158SNM_000019.3:c.473A>GPathogenic11/18/2014 
21ACAT1Ex7NM_000019.3:c.622C>Tp.Arg208* | p.R208XNM_000019.3:c.622C>TPathogenic** 
22ACAT1Ex7NM_000019.3:c.623G>Ap.Arg208Gln | p.R208QNM_000019.3:c.623G>AVOUS09/22/2014
23ACAT1Ex7NM_000019.3:c.653C>Ap.Ser218Tyr | p.S218YVOUS**
24ACAT1Ex7NM_000019.3:c.730+2T>CPathogenic12/26/2012 
25ACAT1Ex8NM_000019.3:c.765A>Tp.Glu255Asp | p.E255DNM_000019.3:c.765A>TVOUS09/22/2014
26ACAT1Ex8NM_000019.3:c.766T>Ap.Tyr256Asn | p.Y256NNM_000019.3:c.766T>AVOUS09/22/2014
27ACAT1Ex8NM_000019.3:c.814C>Tp.Gln272* | p.Q272XNM_000019.3:c.814C>TPathogenic08/09/2013 
28ACAT1Ex8NM_000019.3:c.826+1G>TNM_000019.3:c.826+1G>TPathogenic12/16/2013 
29ACAT1Ex9NM_000019.3:c.854C>Tp.Thr285Ile | p.T285IVOUS**
30ACAT1Ex9NM_000019.3:c.905delAPathogenic12/26/2012 
31ACAT1Ex10NM_000019.3:c.941-15_941-14delCCNM_000019.3:c.941-15_941-14delCCBenign01/17/2014 
32ACAT1Ex10NM_000019.3:c.941-14C>TNM_000019.3:c.941-14C>TVOUS11/07/2014
33ACAT1Ex10NM_000019.3:c.941-7delTNM_000019.3:c.941-7delTVOUS11/07/2014
34ACAT1Ex10NM_000019.3:c.1005+25C>TBenign** 
35ACAT1Ex11NM_000019.3:c.1006-4_1006-1delinsAAANM_000019.3:c.1006-4_1006-1delinsAAAPathogenic01/12/2015 
36ACAT1Ex12NM_000019.3:c.*6dupCNM_000019.3:c.*6_*7insCBenign10/13/2015 
37ACAT1Ex12NM_000019.3:c.*38_*64delCAGAAGGCCTGCTGTAATCAGTGTGACVOUS**
38ACAT1Ex12NM_000019.3:c.1214_1216delGAGVOUS**
39ACAT1Ex12NM_000019.3:c.1217A>Gp.Glu406Gly | p.E406GNM_000019.3:c.1217A>GVOUS07/17/2019
40ACAT1Ex12NM_000019.3:c.1253G>Ap.Gly418Asp | p.G418DNM_000019.3:c.1253G>AVOUS05/02/2016

* 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.