Loading Data . . .

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  
1HPS1Ex4NM_000195.3:c.198G>Ap.Ser66= | p.S66=LRG_562t1:c.198G>A, NM_000195.2:c.198G>A, NM_000195.3:c.198G>A, NM_182639.1:c.198G>A, NM_182639.2:c.198G>A, NR_039833.1:n.-4334G>A, NR_039833.2:n.-4332G>A, XM_005269755.1:c.198G>A, XM_005269756.1:c.198G>A, XM_005269757.1:c.198G>A, XM_005269758.1:c.198G>A, XM_005269759.1:c.-29G>A, XM_005269760.1:c.-719G>A, XM_005269761.1:c.-576G>AVOUS06/14/2017
2HPS1Ex6NM_000195.3:c.483G>Tp.Glu161Asp | p.E161DNM_000195.2:c.483G>T, NM_000195.3:c.483G>T, NM_182639.1:c.483G>T, NM_182639.2:c.483G>T, NR_039833.1:n.-2649G>T, NR_039833.2:n.-2647G>T, XM_005269755.1:c.483G>T, XM_005269756.1:c.483G>T, XM_005269757.1:c.483G>T, XM_005269758.1:c.483G>T, XM_005269759.1:c.114G>T, XM_005269760.1:c.-434G>T, XM_005269761.1:c.-434G>TVOUS02/19/2016
3HPS1Ex7NM_000195.3:c.597C>Tp.Pro199= | p.P199=Benign02/26/2014 
4HPS1Ex7NM_000195.3:c.636C>Tp.Leu212= | p.L212=Benign02/26/2014 
5HPS1Ex8NM_000195.3:c.678_680delCAGinsTGTLRG_562t1:c.678_680delinsTGT, NM_000195.2:c.678_680delinsTGT, NM_000195.3:c.678_680delinsTGT, NM_182639.1:c.678_680delinsTGT, NM_182639.2:c.678_680delinsTGT, NR_039833.1:n.*621_*623delinsTGT, NR_039833.2:n.*631_*633delinsTGT, XM_005269755.1:c.678_680delinsTGT, XM_005269756.1:c.678_680delinsTGT, XM_005269757.1:c.678_680delinsTGT, XM_005269758.1:c.678_680delinsTGT, XM_005269759.1:c.309_311delinsTGT, XM_005269760.1:c.-196_-194delinsTGT, XM_005269761.1:c.-196_-194delinsTGTLikely benign11/04/2016 
6HPS1Ex8NM_000195.3:c.700C>Tp.Leu234= | p.L234=LRG_562t1:c.700C>T, NM_000195.2:c.700C>T, NM_000195.3:c.700C>T, NM_182639.1:c.700C>T, NM_182639.2:c.700C>T, NR_039833.1:n.*643C>T, NR_039833.2:n.*653C>T, XM_005269755.1:c.700C>T, XM_005269756.1:c.700C>T, XM_005269757.1:c.700C>T, XM_005269758.1:c.700C>T, XM_005269759.1:c.331C>T, XM_005269760.1:c.-174C>T, XM_005269761.1:c.-174C>TVOUS04/10/2017
7HPS1Ex11NM_000195.3:c.961G>Tp.Gly321Cys | p.G321CLRG_562t1:c.961G>T, NM_000195.2:c.961G>T, NM_000195.3:c.961G>T, NM_182639.1:c.*2294G>T, NM_182639.2:c.*2294G>T, NR_039833.1:n.*4041G>T, NR_039833.2:n.*4051G>T, XM_005269755.1:c.961G>T, XM_005269756.1:c.961G>T, XM_005269757.1:c.961G>T, XM_005269758.1:c.862G>T, XM_005269759.1:c.592G>T, XM_005269760.1:c.-12G>T, XM_005269761.1:c.-12G>TVOUS06/08/2017
8HPS1Ex12NM_000195.3:c.1067A>Cp.Asn356Thr | p.N356TNM_000195.2:c.1067A>C, NM_000195.3:c.1067A>C, NM_182639.1:c.*3629A>C, NM_182639.2:c.*3629A>C, XM_005269755.1:c.1067A>C, XM_005269756.1:c.1067A>C, XM_005269757.1:c.1067A>C, XM_005269758.1:c.968A>C, XM_005269759.1:c.698A>C, XM_005269760.1:c.95A>C, XM_005269761.1:c.95A>CVOUS08/31/2015
9HPS1Ex14NM_000195.3:c.1397+7G>CBenign02/26/2014 
10HPS1Ex14NM_000195.3:c.1397+8G>TBenign02/26/2014 
11HPS1Ex15NM_000195.3:c.1406A>Gp.Gln469Arg | p.Q469RLRG_562t1:c.1406A>G, NM_000195.2:c.1406A>G, NM_000195.3:c.1406A>G, XM_005269755.1:c.1406A>G, XM_005269756.1:c.1406A>G, XM_005269757.1:c.1406A>G, XM_005269758.1:c.1307A>G, XM_005269759.1:c.1037A>G, XM_005269760.1:c.434A>G, XM_005269761.1:c.434A>GVOUS11/12/2018
12HPS1Ex15NM_000195.3:c.1438G>Ap.Ala480Thr | p.A480TLRG_562t1:c.1438G>A, NM_000195.2:c.1438G>A, NM_000195.3:c.1438G>A, XM_005269755.1:c.1438G>A, XM_005269756.1:c.1438G>A, XM_005269757.1:c.1438G>A, XM_005269758.1:c.1339G>A, XM_005269759.1:c.1069G>A, XM_005269760.1:c.466G>A, XM_005269761.1:c.466G>AVOUS12/29/2017
13HPS1Ex15NM_000195.3:c.1472_1487dupCCAGCAGGGGAGGCCCLRG_562t1:c.1487_1488insCCAGCAGGGGAGGCCC, NM_000195.2:c.1487_1488insCCAGCAGGGGAGGCCC, NM_000195.3:c.1487_1488insCCAGCAGGGGAGGCCC, XM_005269755.1:c.1487_1488insCCAGCAGGGGAGGCCC, XM_005269756.1:c.1487_1488insCCAGCAGGGGAGGCCC, XM_005269757.1:c.1487_1488insCCAGCAGGGGAGGCCC, XM_005269758.1:c.1388_1389insCCAGCAGGGGAGGCCC, XM_005269759.1:c.1118_1119insCCAGCAGGGGAGGCCC, XM_005269760.1:c.515_516insCCAGCAGGGGAGGCCC, XM_005269761.1:c.515_516insCCAGCAGGGGAGGCCCPathogenic09/21/2016 
14HPS1Ex16NM_000195.3:c.1585A>Gp.Ile529Val | p.I529VLRG_562t1:c.1585A>G, NM_000195.2:c.1585A>G, NM_000195.3:c.1585A>G, XM_005269755.1:c.1585A>G, XM_005269756.1:c.1585A>G, XM_005269757.1:c.1585A>G, XM_005269758.1:c.1486A>G, XM_005269759.1:c.1216A>G, XM_005269760.1:c.613A>G, XM_005269761.1:c.613A>GVOUS12/02/2016
15HPS1Ex17NM_000195.3:c.1599-15A>GBenign02/26/2014 
16HPS1Ex17NM_000195.3:c.1653T>Gp.Thr551= | p.T551=LRG_562t1:c.1653T>G, NM_000195.2:c.1653T>G, NM_000195.3:c.1653T>G, XM_005269755.1:c.1653T>G, XM_005269756.1:c.1653T>G, XM_005269757.1:c.1653T>G, XM_005269758.1:c.1554T>G, XM_005269759.1:c.1284T>G, XM_005269760.1:c.681T>G, XM_005269761.1:c.681T>GVOUS08/03/2017
17HPS1Ex17NM_000195.3:c.1683C>Tp.Cys561= | p.C561=Benign02/26/2014 
18HPS1Ex17NM_000195.3:c.1698G>Ap.Ser566= | p.S566=LRG_562t1:c.1698G>A, NM_000195.2:c.1698G>A, NM_000195.3:c.1698G>A, XM_005269755.1:c.1698G>A, XM_005269756.1:c.1698G>A, XM_005269757.1:c.1698G>A, XM_005269758.1:c.1599G>A, XM_005269759.1:c.1329G>A, XM_005269760.1:c.726G>A, XM_005269761.1:c.726G>ABenign05/15/2015 
19HPS1Ex19NM_000195.3:c.1915G>Ap.Gly639Ser | p.G639SLRG_562t1:c.1915G>A, NM_000195.2:c.1915G>A, NM_000195.3:c.1915G>A, NM_032709.1:c.-3065G>A, NM_032709.2:c.-3065G>A, XM_005269755.1:c.1915G>A, XM_005269756.1:c.1915G>A, XM_005269757.1:c.1915G>A, XM_005269758.1:c.1816G>A, XM_005269759.1:c.1546G>A, XM_005269760.1:c.943G>A, XM_005269761.1:c.943G>AVOUS08/19/2016
20HPS1Ex19NM_000195.3:c.1940+6G>ALRG_562t1:c.1940+6G>A, NM_000195.2:c.1940+6G>A, NM_000195.3:c.1940+6G>A, NM_032709.1:c.-3034G>A, NM_032709.2:c.-3034G>A, XM_005269755.1:c.1940+6G>A, XM_005269756.1:c.1940+6G>A, XM_005269757.1:c.1940+6G>A, XM_005269758.1:c.1841+6G>A, XM_005269759.1:c.1571+6G>A, XM_005269760.1:c.968+6G>A, XM_005269761.1:c.968+6G>AVOUS05/19/2016
21HPS1Ex20NM_000195.3:c.*12C>TNM_000195.2:c.*12C>T, NM_000195.3:c.*12C>T, NM_032709.1:c.-2417C>T, NM_032709.2:c.-2417C>T, XM_005269755.1:c.*12C>T, XM_005269756.1:c.*12C>T, XM_005269757.1:c.*12C>T, XM_005269758.1:c.*12C>T, XM_005269759.1:c.*12C>T, XM_005269760.1:c.*12C>T, XM_005269761.1:c.*12C>TBenign03/12/2016 
22HPS1Ex4NM_000195.4:c.198G>Ap.Ser66= | p.S66=LRG_562t1:c.198G>A, NM_000195.2:c.198G>A, NM_000195.3:c.198G>A, NM_182639.1:c.198G>A, NM_182639.2:c.198G>A, NR_039833.1:n.-4334G>A, NR_039833.2:n.-4332G>A, XM_005269755.1:c.198G>A, XM_005269756.1:c.198G>A, XM_005269757.1:c.198G>A, XM_005269758.1:c.198G>A, XM_005269759.1:c.-29G>A, XM_005269760.1:c.-719G>A, XM_005269761.1:c.-576G>AVOUS07/17/2020
23HPS1Ex15NM_000195.4:c.1406A>Gp.Gln469Arg | p.Q469RLRG_562t1:c.1406A>G, NM_000195.2:c.1406A>G, NM_000195.3:c.1406A>G, XM_005269755.1:c.1406A>G, XM_005269756.1:c.1406A>G, XM_005269757.1:c.1406A>G, XM_005269758.1:c.1307A>G, XM_005269759.1:c.1037A>G, XM_005269760.1:c.434A>G, XM_005269761.1:c.434A>GVOUS02/18/2020
24HPS1Ex15NM_000195.4:c.1531C>Ap.Arg511= | p.R511=LRG_562t1:c.1531C>A, NM_000195.2:c.1531C>A, NM_000195.3:c.1531C>A, XM_005269755.1:c.1531C>A, XM_005269756.1:c.1531C>A, XM_005269757.1:c.1531C>A, XM_005269758.1:c.1432C>A, XM_005269759.1:c.1162C>A, XM_005269760.1:c.559C>A, XM_005269761.1:c.559C>AVOUS01/08/2020
25HPS1Ex16NM_000195.4:c.1585A>Gp.Ile529Val | p.I529VLRG_562t1:c.1585A>G, NM_000195.2:c.1585A>G, NM_000195.3:c.1585A>G, XM_005269755.1:c.1585A>G, XM_005269756.1:c.1585A>G, XM_005269757.1:c.1585A>G, XM_005269758.1:c.1486A>G, XM_005269759.1:c.1216A>G, XM_005269760.1:c.613A>G, XM_005269761.1:c.613A>GVOUS03/14/2019
26HPS1Ex17NM_000195.4:c.1698G>Ap.Ser566= | p.S566=LRG_562t1:c.1698G>A, NM_000195.2:c.1698G>A, NM_000195.3:c.1698G>A, XM_005269755.1:c.1698G>A, XM_005269756.1:c.1698G>A, XM_005269757.1:c.1698G>A, XM_005269758.1:c.1599G>A, XM_005269759.1:c.1329G>A, XM_005269760.1:c.726G>A, XM_005269761.1:c.726G>ABenign09/02/2020 

* 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.