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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  
1GH1Ex1NM_000515.3:c.7A>Gp.Thr3Ala | p.T3ANM_000515.3:c.7A>G, NM_022559.2:c.7A>G, NM_022560.2:c.7A>G, NM_022561.2:c.7A>G, NM_022562.2:c.7A>G, XM_005257218.1:c.7A>G, XM_005257219.1:c.7A>GBenign07/27/2016 
2GH1Ex2NM_000515.3:c.15C>Tp.Ser5= | p.S5=NM_000515.3:c.15C>T, NM_022559.2:c.15C>T, NM_022560.2:c.15C>T, NM_022561.2:c.15C>T, NM_022562.2:c.10+265C>T, XM_005257218.1:c.15C>T, XM_005257219.1:c.15C>TVOUS07/25/2018
3GH1Ex2NM_000515.3:c.16C>Ap.Arg6= | p.R6=NM_000515.3:c.16C>A, NM_022559.2:c.16C>A, NM_022560.2:c.16C>A, NM_022561.2:c.16C>A, NM_022562.2:c.10+266C>A, XM_005257218.1:c.16C>A, XM_005257219.1:c.16C>AVOUS04/17/2018
4GH1Ex2NM_000515.3:c.116C>Tp.Ala39Val | p.A39VNM_000515.3:c.116C>T, NM_022559.2:c.116C>T, NM_022560.2:c.116C>T, NM_022561.2:c.116C>T, NM_022562.2:c.10+366C>T, XM_005257218.1:c.116C>T, XM_005257219.1:c.116C>TBenign11/17/2015 
5GH1Ex2NM_000515.3:c.134G>Ap.Arg45His | p.R45HNM_000515.3:c.134G>A, NM_022559.2:c.134G>A, NM_022560.2:c.134G>A, NM_022561.2:c.134G>A, NM_022562.2:c.10+384G>A, XM_005257218.1:c.134G>A, XM_005257219.1:c.134G>AVOUS11/01/2019
6GH1Ex2NM_000515.3:c.150C>Ap.Ala50= | p.A50=NM_000515.3:c.150C>A, NM_022559.2:c.150C>A, NM_022560.2:c.150C>A, NM_022561.2:c.150C>A, NM_022562.2:c.10+400C>A, XM_005257218.1:c.150C>A, XM_005257219.1:c.150C>ABenign10/31/2014 
7GH1Ex2NM_000515.3:c.152T>Ap.Phe51Tyr | p.F51YNM_000515.3:c.152T>A, NM_022559.2:c.152T>A, NM_022560.2:c.152T>A, NM_022561.2:c.152T>A, NM_022562.2:c.10+402T>A, XM_005257218.1:c.152T>A, XM_005257219.1:c.152T>ABenign10/31/2014 
8GH1Ex3NM_000515.3:c.217A>Gp.Asn73Asp | p.N73DNM_000515.3:c.217A>G, NM_022559.2:c.172A>G, NM_022560.2:c.172-167A>G, NM_022561.2:c.171+255A>G, NM_022562.2:c.11-585A>G, XM_005257218.1:c.217A>G, XM_005257219.1:c.217A>GVOUS02/24/2020
9GH1Ex3NM_000515.3:c.291+34G>CVOUS02/11/2020
10GH1Ex4NM_000515.3:c.331T>Cp.Ser111Pro | p.S111PNM_000515.3:c.331T>C, NM_022559.2:c.286T>C, NM_022560.2:c.211T>C, NM_022561.2:c.172-379T>C, NM_022562.2:c.11-379T>C, XM_005257218.1:c.323+8T>C, XM_005257219.1:c.331T>CVOUS01/10/2020
11GH1Ex4NM_000515.3:c.363T>Ap.Ser121Arg | p.S121RNM_000515.3:c.363T>A, NM_022559.2:c.318T>A, NM_022560.2:c.243T>A, NM_022561.2:c.172-347T>A, NM_022562.2:c.11-347T>A, XM_005257218.1:c.323+40T>A, XM_005257219.1:c.351+12T>ABenign06/17/2015 
12GH1Ex4NM_000515.3:c.370G>Ap.Ala124Thr | p.A124TNM_000515.3:c.370G>A, NM_022559.2:c.325G>A, NM_022560.2:c.250G>A, NM_022561.2:c.172-340G>A, NM_022562.2:c.11-340G>A, XM_005257218.1:c.323+47G>A, XM_005257219.1:c.351+19G>AVOUS12/18/2014
13GH1Ex4NM_000515.3:c.387C>Tp.Tyr129= | p.Y129=NM_000515.3:c.387C>T, NM_022559.2:c.342C>T, NM_022560.2:c.267C>T, NM_022561.2:c.172-323C>T, NM_022562.2:c.11-323C>T, XM_005257218.1:c.324-51C>T, XM_005257219.1:c.351+36C>TVOUS02/17/2015
14GH1Ex4NM_000515.3:c.406G>Ap.Val136Ile | p.V136INM_000515.3:c.406G>A, NM_022559.2:c.361G>A, NM_022560.2:c.286G>A, NM_022561.2:c.172-304G>A, NM_022562.2:c.11-304G>A, XM_005257218.1:c.324-32G>A, XM_005257219.1:c.351+55G>ABenign03/30/2015 
15GH1Ex5NM_000515.3:c.547C>Tp.Leu183Phe | p.L183FNM_000515.3:c.547C>T, NM_022559.2:c.502C>T, NM_022560.2:c.427C>T, NM_022561.2:c.262C>T, NM_022562.2:c.*8C>T, XM_005257218.1:c.433C>T, XM_005257219.1:c.409C>TVOUS11/17/2015
16GH1Ex5NM_000515.3:c.597C>Gp.Val199= | p.V199=NM_000515.3:c.597C>G, NM_022559.2:c.552C>G, NM_022560.2:c.477C>G, NM_022561.2:c.312C>G, NM_022562.2:c.*58C>G, XM_005257218.1:c.483C>G, XM_005257219.1:c.459C>GVOUS09/17/2019
17GH1Ex5NM_000515.3:c.615C>Gp.Ile205Met | p.I205MNM_000515.3:c.615C>G, NM_022559.2:c.570C>G, NM_022560.2:c.495C>G, NM_022561.2:c.330C>G, NM_022562.2:c.*76C>G, XM_005257218.1:c.501C>G, XM_005257219.1:c.477C>GVOUS04/30/2018
18GH1Ex2NM_000515.4:c.15C>Tp.Ser5= | p.S5=NM_000515.3:c.15C>T, NM_022559.2:c.15C>T, NM_022560.2:c.15C>T, NM_022561.2:c.15C>T, NM_022562.2:c.10+265C>T, XM_005257218.1:c.15C>T, XM_005257219.1:c.15C>TVOUS03/15/2021
19GH1Ex2NM_000515.4:c.121C>Tp.Leu41Phe | p.L41FNM_000515.3:c.121C>T, NM_022559.2:c.121C>T, NM_022560.2:c.121C>T, NM_022561.2:c.121C>T, NM_022562.2:c.10+371C>T, XM_005257218.1:c.121C>T, XM_005257219.1:c.121C>TVOUS02/04/2021
20GH1Ex2NM_000515.4:c.158C>Tp.Thr53Ile | p.T53INM_000515.3:c.158C>T, NM_022559.2:c.158C>T, NM_022560.2:c.158C>T, NM_022561.2:c.158C>T, NM_022562.2:c.10+408C>T, XM_005257218.1:c.158C>T, XM_005257219.1:c.158C>TVOUS03/21/2019
21GH1Ex4NM_000515.4:c.406G>Ap.Val136Ile | p.V136INM_000515.3:c.406G>A, NM_022559.2:c.361G>A, NM_022560.2:c.286G>A, NM_022561.2:c.172-304G>A, NM_022562.2:c.11-304G>A, XM_005257218.1:c.324-32G>A, XM_005257219.1:c.351+55G>ABenign11/02/2020 
22GH1Ex5NM_000515.4:c.597C>Gp.Val199= | p.V199=NM_000515.3:c.597C>G, NM_022559.2:c.552C>G, NM_022560.2:c.477C>G, NM_022561.2:c.312C>G, NM_022562.2:c.*58C>G, XM_005257218.1:c.483C>G, XM_005257219.1:c.459C>GVOUS01/20/2021

* 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.