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EGL's Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by EGL Genetics for that gene.
EGL 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  
1APOBEx7NM_000384.2:c.751G>Ap.Ala251Thr | p.A251TNM_000384.2:c.751G>ALikely benign11/17/2017 
2APOBEx9NM_000384.2:c.1033G>Ap.Ala345Thr | p.A345TNM_000384.2:c.1033G>AVOUS06/13/2018
3APOBEx16NM_000384.2:c.2302A>Gp.Lys768Glu | p.K768ENM_000384.2:c.2302A>GVOUS01/20/2017
4APOBEx22NM_000384.2:c.3383G>Ap.Arg1128His | p.R1128HNM_000384.2:c.3383G>AVOUS08/27/2015
5APOBEx26NM_000384.2:c.5201_5203delAAGp.Glu1734del | p.E1734delNM_000384.2:c.5201_5203delAAGVOUS12/07/2016
6APOBEx26NM_000384.2:c.7696G>Ap.Glu2566Lys | p.E2566KNM_000384.2:c.7696G>ALikely benign05/30/2019 
7APOBEx26NM_000384.2:c.8661T>Cp.Thr2887= | p.T2887=NM_000384.2:c.8661T>CVOUS11/09/2017
8APOBEx26NM_000384.2:c.9639C>Ap.Asn3213Lys | p.N3213KNM_000384.2:c.9639C>AVOUS09/28/2016
9APOBEx26NM_000384.2:c.10132C>Ap.Gln3378Lys | p.Q3378KNM_000384.2:c.10132C>AVOUS05/30/2019
10APOBEx26NM_000384.2:c.10580G>Ap.Arg3527Gln | p.R3527QNM_000384.2:c.10580G>APathogenic05/30/2019 
11APOBEx29NM_000384.2:c.12940A>Gp.Ile4314Val | p.I4314VNM_000384.2:c.12940A>GBenign01/18/2017 
12APOBEx29NM_000384.2:c.13451C>Tp.Thr4484Met | p.T4484MNM_000384.2:c.13451C>TBenign06/13/2018 

* 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


EmVClass data for all genes and variants that have been seen and analyzed by EGL 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.



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 EGL clinical report and should be approached with caution. Only variants identified at EGL are listed in the EmVClass. If you intend to use EGL's classification for publication purposes please contact the laboratory for permission.