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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  
1ABCA3Ex6NM_001089.2:c.385G>Ap.Val129Met | p.V129MNM_001089.2:c.385G>A, XM_005255168.1:c.385G>AVOUS04/02/2018
2ABCA3Ex6NM_001089.2:c.447+8G>AVOUS10/30/2020
3ABCA3Ex8NM_001089.2:c.689C>Tp.Ala230Val | p.A230VNM_001089.2:c.689C>T, XM_005255168.1:c.689C>TVOUS01/04/2018
4ABCA3Ex9NM_001089.2:c.875A>Tp.Glu292Val | p.E292VNM_001089.2:c.875A>T, XM_005255168.1:c.875A>TPathogenic09/12/2016 
5ABCA3Ex9NM_001089.2:c.954C>Tp.Ile318= | p.I318=NM_001089.2:c.954C>T, XM_005255168.1:c.954C>TLikely benign07/05/2018 
6ABCA3Ex12NM_001089.2:c.1408A>Cp.Met470Leu | p.M470LNM_001089.2:c.1408A>C, XM_005255168.1:c.1234A>C, XM_005255169.1:c.121A>CVOUS03/10/2019
7ABCA3Ex12NM_001089.2:c.1417G>Ap.Val473Ile | p.V473INM_001089.2:c.1417G>A, XM_005255168.1:c.1243G>A, XM_005255169.1:c.130G>AVOUS09/18/2015
8ABCA3Ex17NM_001089.2:c.2125C>Tp.Arg709Trp | p.R709WNM_001089.2:c.2125C>T, XM_005255168.1:c.1951C>T, XM_005255169.1:c.838C>TVOUS02/28/2020
9ABCA3Ex18NM_001089.2:c.2296C>Tp.Pro766Ser | p.P766SNM_001089.2:c.2296C>T, XM_005255168.1:c.2122C>T, XM_005255169.1:c.1009C>TLikely benign10/14/2016 
10ABCA3Ex18NM_001089.2:c.2309C>Tp.Pro770Leu | p.P770LNM_001089.2:c.2309C>T, XM_005255168.1:c.2135C>T, XM_005255169.1:c.1022C>TVOUS05/18/2018
11ABCA3Ex18NM_001089.2:c.2340C>Tp.His780= | p.H780=NM_001089.2:c.2340C>T, XM_005255168.1:c.2166C>T, XM_005255169.1:c.1053C>TVOUS10/30/2020
12ABCA3Ex20NM_001089.2:c.2614A>Gp.Ser872Gly | p.S872GNM_001089.2:c.2614A>G, XM_005255168.1:c.2440A>G, XM_005255169.1:c.1327A>GVOUS08/20/2019
13ABCA3Ex20NM_001089.2:c.2675G>Ap.Arg892His | p.R892HNM_001089.2:c.2675G>A, XM_005255168.1:c.2501G>A, XM_005255169.1:c.1388G>AVOUS12/08/2014
14ABCA3Ex21NM_001089.2:c.2854G>Ap.Asp952Asn | p.D952NNM_001089.2:c.2854G>A, XM_005255168.1:c.2680G>A, XM_005255169.1:c.1567G>AVOUS11/22/2016
15ABCA3Ex25NM_001089.2:c.3841G>Ap.Ala1281Thr | p.A1281TNM_001089.2:c.3841G>A, XM_005255168.1:c.3667G>A, XM_005255169.1:c.2554G>AVOUS10/17/2017
16ABCA3Ex29NM_001089.2:c.4420C>Tp.Arg1474Trp | p.R1474WNM_001089.2:c.4420C>T, NR_039868.1:n.*4379G>A, XM_005255168.1:c.4246C>T, XM_005255169.1:c.3133C>TLikely benign10/19/2017 
17ABCA3Ex31NM_001089.2:c.4835G>Ap.Arg1612Gln | p.R1612QNM_001089.2:c.4835G>A, NR_039868.1:n.*3262C>T, XM_005255168.1:c.4661G>A, XM_005255169.1:c.3548G>AVOUS05/14/2019

* 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.