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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  
1MFN2Ex3NM_014874.3:c.119A>Gp.Asn40Ser | p.N40SLRG_255t1:c.119A>G, NM_001127660.1:c.119A>G, NM_014874.3:c.119A>G, XM_005263543.1:c.119A>G, XM_005263544.1:c.119A>G, XM_005263545.1:c.119A>G, XM_005263546.1:c.119A>G, XM_005263547.1:c.119A>G, XM_005263548.1:c.119A>GVOUS09/28/2017
2MFN2Ex3NM_014874.3:c.175+9G>ALRG_255t1:c.175+9G>A, NM_001127660.1:c.175+9G>A, NM_014874.3:c.175+9G>A, XM_005263543.1:c.175+9G>A, XM_005263544.1:c.175+9G>A, XM_005263545.1:c.175+9G>A, XM_005263546.1:c.175+9G>A, XM_005263547.1:c.175+9G>A, XM_005263548.1:c.175+9G>AVOUS01/25/2017
3MFN2Ex4NM_014874.3:c.227T>Cp.Leu76Pro | p.L76PLRG_255t1:c.227T>C, NM_001127660.1:c.227T>C, NM_014874.3:c.227T>C, XM_005263543.1:c.227T>C, XM_005263544.1:c.227T>C, XM_005263545.1:c.227T>C, XM_005263546.1:c.227T>C, XM_005263547.1:c.227T>C, XM_005263548.1:c.227T>CPathogenic08/28/2017 
4MFN2Ex4NM_014874.3:c.280C>Tp.Arg94Trp | p.R94WLRG_255t1:c.280C>T, NM_001127660.1:c.280C>T, NM_014874.3:c.280C>T, XM_005263543.1:c.280C>T, XM_005263544.1:c.280C>T, XM_005263545.1:c.280C>T, XM_005263546.1:c.280C>T, XM_005263547.1:c.280C>T, XM_005263548.1:c.280C>TPathogenic12/31/2014 
5MFN2Ex4NM_014874.3:c.310C>Tp.Arg104Trp | p.R104WLRG_255t1:c.310C>T, NM_001127660.1:c.310C>T, NM_014874.3:c.310C>T, XM_005263543.1:c.310C>T, XM_005263544.1:c.310C>T, XM_005263545.1:c.310C>T, XM_005263546.1:c.310C>T, XM_005263547.1:c.310C>T, XM_005263548.1:c.310C>TPathogenic03/01/2017 
6MFN2Ex4NM_014874.3:c.311G>Tp.Arg104Leu | p.R104LLRG_255t1:c.311G>T, NM_001127660.1:c.311G>T, NM_014874.3:c.311G>T, XM_005263543.1:c.311G>T, XM_005263544.1:c.311G>T, XM_005263545.1:c.311G>T, XM_005263546.1:c.311G>T, XM_005263547.1:c.311G>T, XM_005263548.1:c.311G>TVOUS04/07/2017
7MFN2Ex5NM_014874.3:c.392A>Gp.Asn131Ser | p.N131SNM_001127660.1:c.392A>G, NM_014874.3:c.392A>G, XM_005263543.1:c.392A>G, XM_005263544.1:c.392A>G, XM_005263545.1:c.392A>G, XM_005263546.1:c.392A>G, XM_005263547.1:c.392A>G, XM_005263548.1:c.392A>GVOUS09/25/2015
8MFN2Ex8NM_014874.3:c.756C>Tp.Asn252= | p.N252=LRG_255t1:c.756C>T, NM_001127660.1:c.756C>T, NM_014874.3:c.756C>T, XM_005263543.1:c.756C>T, XM_005263544.1:c.756C>T, XM_005263545.1:c.756C>T, XM_005263546.1:c.756C>T, XM_005263547.1:c.756C>T, XM_005263548.1:c.756C>TVOUS01/15/2019
9MFN2Ex9NM_014874.3:c.892G>Ap.Gly298Arg | p.G298RNM_001127660.1:c.892G>A, NM_014874.3:c.892G>A, XM_005263543.1:c.892G>A, XM_005263544.1:c.892G>A, XM_005263545.1:c.892G>A, XM_005263546.1:c.892G>A, XM_005263547.1:c.892G>A, XM_005263548.1:c.892G>ALikely benign12/02/2014 
10MFN2Ex10NM_014874.3:c.975C>Tp.Gly325= | p.G325=NM_001127660.1:c.975C>T, NM_014874.3:c.975C>T, XM_005263543.1:c.975C>T, XM_005263544.1:c.975C>T, XM_005263545.1:c.975C>T, XM_005263546.1:c.975C>T, XM_005263547.1:c.975C>T, XM_005263548.1:c.975C>TBenign09/03/2014 
11MFN2Ex11NM_014874.3:c.1148C>Tp.Ala383Val | p.A383VLRG_255t1:c.1148C>T, NM_001127660.1:c.1148C>T, NM_014874.3:c.1148C>T, XM_005263543.1:c.1148C>T, XM_005263544.1:c.1148C>T, XM_005263545.1:c.1148C>T, XM_005263546.1:c.1148C>T, XM_005263547.1:c.1148C>T, XM_005263548.1:c.1148C>TPathogenic05/22/2017 
12MFN2Ex12NM_014874.3:c.1179G>Ap.Met393Ile | p.M393INM_001127660.1:c.1179G>A, NM_014874.3:c.1179G>A, XM_005263543.1:c.1179G>A, XM_005263544.1:c.1179G>A, XM_005263545.1:c.1179G>A, XM_005263546.1:c.1179G>A, XM_005263547.1:c.1179G>A, XM_005263548.1:c.1179G>ALikely benign06/05/2015 
13MFN2Ex14NM_014874.3:c.1403G>Ap.Arg468His | p.R468HLRG_255t1:c.1403G>A, NM_001127660.1:c.1403G>A, NM_014874.3:c.1403G>A, XM_005263543.1:c.1403G>A, XM_005263544.1:c.1403G>A, XM_005263545.1:c.1403G>A, XM_005263546.1:c.1403G>A, XM_005263547.1:c.1403G>A, XM_005263548.1:c.1403G>ALikely benign10/17/2018 
14MFN2Ex14NM_014874.3:c.1452G>Ap.Thr484= | p.T484=LRG_255t1:c.1452G>A, NM_001127660.1:c.1452G>A, NM_014874.3:c.1452G>A, XM_005263543.1:c.1452G>A, XM_005263544.1:c.1452G>A, XM_005263545.1:c.1452G>A, XM_005263546.1:c.1452G>A, XM_005263547.1:c.1452G>A, XM_005263548.1:c.1452G>ALikely benign05/30/2017 
15MFN2Ex15NM_014874.3:c.1641C>Tp.Leu547= | p.L547=NM_001127660.1:c.1641C>T, NM_014874.3:c.1641C>T, XM_005263543.1:c.1641C>T, XM_005263544.1:c.1641C>T, XM_005263545.1:c.1641C>T, XM_005263546.1:c.1641C>T, XM_005263547.1:c.1641C>T, XM_005263548.1:c.1641C>TVOUS09/23/2015
16MFN2Ex17NM_014874.3:c.1920C>Gp.Leu640= | p.L640=LRG_255t1:c.1920C>G, NM_001127660.1:c.1920C>G, NM_014874.3:c.1920C>G, XM_005263543.1:c.1920C>G, XM_005263544.1:c.1920C>G, XM_005263545.1:c.1920C>G, XM_005263546.1:c.1920C>G, XM_005263547.1:c.1920C>G, XM_005263548.1:c.1920C>GVOUS08/09/2017
17MFN2Ex18NM_014874.3:c.2113G>Ap.Val705Ile | p.V705ILRG_255t1:c.2113G>A, NM_001127660.1:c.2113G>A, NM_014874.3:c.2113G>A, XM_005263543.1:c.2113G>A, XM_005263544.1:c.2113G>A, XM_005263545.1:c.2113G>A, XM_005263546.1:c.2113G>A, XM_005263547.1:c.2113G>A, XM_005263548.1:c.2113G>ABenign08/15/2018 
18MFN2Ex18NM_014874.3:c.2119C>Tp.Arg707Trp | p.R707WLRG_255t1:c.2119C>T, NM_001127660.1:c.2119C>T, NM_014874.3:c.2119C>T, XM_005263543.1:c.2119C>T, XM_005263544.1:c.2119C>T, XM_005263545.1:c.2119C>T, XM_005263546.1:c.2119C>T, XM_005263547.1:c.2119C>T, XM_005263548.1:c.2119C>TPathogenic01/23/2017 
19MFN2Ex18NM_014874.3:c.2146G>Ap.Ala716Thr | p.A716TLRG_255t1:c.2146G>A, NM_001127660.1:c.2146G>A, NM_014874.3:c.2146G>A, XM_005263543.1:c.2146G>A, XM_005263544.1:c.2146G>A, XM_005263545.1:c.2146G>A, XM_005263546.1:c.2146G>A, XM_005263547.1:c.2146G>A, XM_005263548.1:c.2146G>AVOUS02/20/2018

* 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

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.