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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  
1CLN6Ex1NM_017882.2:c.34G>Ap.Ala12Thr | p.A12TNM_017882.2:c.34G>A, XM_005254524.1:c.34G>A, XM_005254525.1:c.-70G>A, XM_005254526.1:c.34G>A, XR_243110.1:n.137G>ABenign01/29/2015 
2CLN6Ex1NM_017882.2:c.36G>Ap.Ala12= | p.A12=LRG_832t1:c.36G>A, NM_017882.2:c.36G>A, XM_005254524.1:c.36G>A, XM_005254525.1:c.-68G>A, XM_005254526.1:c.36G>A, XR_243110.1:n.139G>AVOUS06/12/2017
3CLN6Ex1NM_017882.2:c.42C>Ap.Gly14= | p.G14=LRG_832t1:c.42C>A, NM_017882.2:c.42C>A, XM_005254524.1:c.42C>A, XM_005254525.1:c.-62C>A, XM_005254526.1:c.42C>A, XR_243110.1:n.145C>ABenign08/29/2019 
4CLN6Ex1NM_017882.2:c.53C>Tp.Ala18Val | p.A18VNM_017882.2:c.53C>T, XM_005254524.1:c.53C>T, XM_005254525.1:c.-51C>T, XM_005254526.1:c.53C>T, XR_243110.1:n.156C>TLikely benign01/08/2017 
5CLN6Ex1NM_017882.2:c.58C>Tp.Leu20= | p.L20=NM_017882.2:c.58C>T, XM_005254524.1:c.58C>T, XM_005254525.1:c.-46C>T, XM_005254526.1:c.58C>T, XR_243110.1:n.161C>TVOUS08/31/2015
6CLN6Ex1NM_017882.2:c.62G>Tp.Gly21Val | p.G21VNM_017882.2:c.62G>T, XM_005254524.1:c.62G>T, XM_005254525.1:c.-42G>T, XM_005254526.1:c.62G>T, XR_243110.1:n.165G>TVOUS10/16/2015
7CLN6Ex1NM_017882.2:c.64G>Tp.Ala22Ser | p.A22SNM_017882.2:c.64G>T, XM_005254524.1:c.64G>T, XM_005254525.1:c.-40G>T, XM_005254526.1:c.64G>T, XR_243110.1:n.167G>TBenign09/14/2016 
8CLN6Ex2NM_017882.2:c.100G>Ap.Ala34Thr | p.A34TLRG_832t1:c.100G>A, NM_017882.2:c.100G>A, XM_005254524.1:c.100G>A, XM_005254525.1:c.-4G>A, XM_005254526.1:c.84-8875G>A, XR_243110.1:n.203G>AVOUS08/25/2017
9CLN6Ex3NM_017882.2:c.214G>Cp.Glu72Gln | p.E72QNM_017882.2:c.214G>C, XM_005254524.1:c.214G>C, XM_005254525.1:c.111G>C, XM_005254526.1:c.84-4614G>C, XR_243110.1:n.317G>CLikely benign11/06/2015 
10CLN6Ex3NM_017882.2:c.214G>Tp.Glu72* | p.E72XLRG_832t1:c.214G>T, NM_017882.2:c.214G>T, XM_005254524.1:c.214G>T, XM_005254525.1:c.111G>T, XM_005254526.1:c.84-4614G>T, XR_243110.1:n.317G>TPathogenic01/10/2018 
11CLN6Ex3NM_017882.2:c.225A>Gp.Pro75= | p.P75=LRG_832t1:c.225A>G, NM_017882.2:c.225A>G, XM_005254524.1:c.225A>G, XM_005254525.1:c.122A>G, XM_005254526.1:c.84-4603A>G, XR_243110.1:n.328A>GVOUS08/21/2019
12CLN6Ex3NM_017882.2:c.270C>Tp.Asn90= | p.N90=NM_017882.2:c.270C>T, XM_005254524.1:c.270C>T, XM_005254525.1:c.167C>T, XM_005254526.1:c.84-4558C>T, XR_243110.1:n.373C>TVOUS01/16/2018
13CLN6Ex4NM_017882.2:c.298-6C>TNM_017882.2:c.298-6C>TBenign04/29/2014 
14CLN6Ex4NM_017882.2:c.307C>Tp.Arg103Trp | p.R103WLRG_832t1:c.307C>T, NM_017882.2:c.307C>T, XM_005254524.1:c.298-536C>T, XM_005254525.1:c.195-2134C>T, XM_005254526.1:c.84-2095C>T, XR_243110.1:n.410C>TVOUS12/02/2016
15CLN6Ex4NM_017882.2:c.316C>Tp.Arg106Cys | p.R106CNM_017882.2:c.316C>T, XM_005254524.1:c.298-527C>T, XM_005254525.1:c.195-2125C>T, XM_005254526.1:c.84-2086C>T, XR_243110.1:n.419C>TVOUS11/05/2014
16CLN6Ex4NM_017882.2:c.339G>Ap.Thr113= | p.T113=NM_017882.2:c.339G>A, XM_005254524.1:c.298-504G>A, XM_005254525.1:c.195-2102G>A, XM_005254526.1:c.84-2063G>A, XR_243110.1:n.442G>ALikely benign07/08/2015 
17CLN6Ex4NM_017882.2:c.486+8C>TNM_017882.2:c.486+8C>T, XM_005254524.1:c.298-349C>T, XM_005254525.1:c.195-1947C>T, XM_005254526.1:c.84-1908C>T, XR_243110.1:n.597C>TBenign05/17/2016 
18CLN6Ex6NM_017882.2:c.564C>Ap.Ile188= | p.I188=LRG_832t1:c.564C>A, NM_001031733.2:c.-4362C>A, NM_017882.2:c.564C>A, NM_033429.2:c.-4362C>A, XM_005254524.1:c.375C>A, XM_005254525.1:c.195-18C>A, XM_005254526.1:c.105C>A, XM_005254777.1:c.-4559C>A, XR_243110.1:n.786C>AVOUS04/16/2020
19CLN6Ex7NM_017882.2:c.721A>Gp.Met241Val | p.M241VLRG_832t1:c.721A>G, NM_001031733.2:c.-2979A>G, NM_017882.2:c.721A>G, NM_033429.2:c.-2979A>G, XM_005254524.1:c.532A>G, XM_005254525.1:c.334A>G, XM_005254526.1:c.262A>G, XM_005254777.1:c.-3176A>G, XR_243110.1:n.*42A>GVOUS01/10/2018
20CLN6Ex7NM_017882.2:c.769A>GLRG_832t1:c.769A>G, NM_001031733.2:c.-2931A>G, NM_017882.2:c.769A>G, NM_033429.2:c.-2931A>G, XM_005254524.1:c.580A>G, XM_005254525.1:c.382A>G, XM_005254526.1:c.310A>G, XM_005254777.1:c.-3128A>G, XR_243110.1:n.*90A>GBenign06/02/2016 
21CLN6Ex7NM_017882.2:c.794_796delCCTp.Ser265del | p.S265delLRG_832t1:c.794_796delCCT, NM_001031733.2:c.-2906_-2904delCCT, NM_017882.2:c.794_796delCCT, NM_033429.2:c.-2906_-2904delCCT, XM_005254524.1:c.605_607delCCT, XM_005254525.1:c.407_409delCCT, XM_005254526.1:c.335_337delCCT, XM_005254777.1:c.-3103_-3101delCCT, XR_243110.1:n.*115_*117delCCTVOUS06/13/2017
22CLN6Ex7NM_017882.2:c.798C>Tp.Phe266= | p.F266=LRG_832t1:c.798C>T, NM_001031733.2:c.-2902C>T, NM_017882.2:c.798C>T, NM_033429.2:c.-2902C>T, XM_005254524.1:c.609C>T, XM_005254525.1:c.411C>T, XM_005254526.1:c.339C>T, XM_005254777.1:c.-3099C>T, XR_243110.1:n.*119C>TVOUS11/01/2019
23CLN6Ex7NM_017882.2:c.840G>Ap.Leu280= | p.L280=LRG_832t1:c.840G>A, NM_001031733.2:c.-2860G>A, NM_017882.2:c.840G>A, NM_033429.2:c.-2860G>A, XM_005254524.1:c.651G>A, XM_005254525.1:c.453G>A, XM_005254526.1:c.381G>A, XM_005254777.1:c.-3057G>A, XR_243110.1:n.*161G>ALikely benign09/20/2018 
24CLN6Ex7NM_017882.2:c.923G>Cp.Ser308Thr | p.S308TLRG_832t1:c.923G>C, NM_001031733.2:c.-2777G>C, NM_017882.2:c.923G>C, NM_033429.2:c.-2777G>C, XM_005254524.1:c.734G>C, XM_005254525.1:c.536G>C, XM_005254526.1:c.464G>C, XM_005254777.1:c.-2974G>C, XR_243110.1:n.*244G>CVOUS02/22/2021
25CLN6Ex7NM_017882.2:c.933C>Tp.His311= | p.H311=LRG_832t1:c.933C>T, NM_001031733.2:c.-2767C>T, NM_017882.2:c.933C>T, NM_033429.2:c.-2767C>T, XM_005254524.1:c.744C>T, XM_005254525.1:c.546C>T, XM_005254526.1:c.474C>T, XM_005254777.1:c.-2964C>T, XR_243110.1:n.*254C>TVOUS12/17/2019

* 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.