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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  
1CAV3Ex1NM_033337.2:c.-1G>ANM_001234.3:c.-1G>A, NM_001234.4:c.-1G>A, NM_033337.1:c.-1G>A, NM_033337.2:c.-1G>ABenign04/24/2015 
2CAV3Ex1NM_033337.2:c.-2C>TNM_001234.3:c.-2C>T, NM_001234.4:c.-2C>T, NM_033337.1:c.-2C>T, NM_033337.2:c.-2C>T, XM_005265193.1:c.-973+8584G>AVOUS04/24/2015
3CAV3Ex1NM_033337.2:c.10_17delGAAGAGCALRG_329t1:c.10_17delGAAGAGCA, NM_001234.3:c.10_17delGAAGAGCA, NM_001234.4:c.10_17delGAAGAGCA, NM_033337.1:c.10_17delGAAGAGCA, NM_033337.2:c.10_17delGAAGAGCA, XM_005265193.1:c.-973+8566_-973+8573delTGCTCTTCPathogenic08/24/2016 
4CAV3Ex1NM_033337.2:c.27C>Tp.Leu9= | p.L9=LRG_329t1:c.27C>T, NM_001234.3:c.27C>T, NM_001234.4:c.27C>T, NM_033337.1:c.27C>T, NM_033337.2:c.27C>T, XM_005265193.1:c.-973+8556G>ABenign07/29/2013 
5CAV3Ex1NM_033337.2:c.39C>Tp.Ile13= | p.I13=LRG_329t1:c.39C>T, NM_001234.3:c.39C>T, NM_001234.4:c.39C>T, NM_033337.1:c.39C>T, NM_033337.2:c.39C>T, XM_005265193.1:c.-973+8544G>ALikely benign06/03/2016 
6CAV3Ex1NM_033337.2:c.40G>Ap.Val14Ile | p.V14ILRG_329t1:c.40G>A, NM_001234.3:c.40G>A, NM_001234.4:c.40G>A, NM_033337.1:c.40G>A, NM_033337.2:c.40G>A, XM_005265193.1:c.-973+8543C>TVOUS03/08/2017
7CAV3Ex1NM_033337.2:c.80G>Ap.Arg27Gln | p.R27QNM_001234.3:c.80G>A, NM_001234.4:c.80G>A, NM_033337.1:c.80G>A, NM_033337.2:c.80G>A, XM_005265193.1:c.-973+8503C>TPathogenic02/24/2017 
8CAV3Ex1NM_033337.2:c.92A>Tp.Asn31Ile | p.N31INM_001234.3:c.92A>T, NM_001234.4:c.92A>T, NM_033337.1:c.92A>T, NM_033337.2:c.92A>T, XM_005265193.1:c.-973+8491T>AVOUS09/28/2015
9CAV3Ex1NM_033337.2:c.99C>Tp.Asn33= | p.N33=LRG_329t1:c.99C>T, NM_001234.3:c.99C>T, NM_001234.4:c.99C>T, NM_033337.1:c.99C>T, NM_033337.2:c.99C>T, XM_005265193.1:c.-973+8484G>ABenign08/27/2013 
10CAV3Ex1NM_033337.2:c.109G>Cp.Val37Leu | p.V37LLRG_329t1:c.109G>C, NM_001234.3:c.109G>C, NM_001234.4:c.109G>C, NM_033337.1:c.109G>C, NM_033337.2:c.109G>C, XM_005265193.1:c.-973+8474C>GVOUS07/12/2018
11CAV3Ex1NM_033337.2:c.114+26G>ABenign** 
12CAV3Ex2NM_033337.2:c.115-45_115-29delCGGGTGGCTTCTGTGAGBenign** 
13CAV3Ex2NM_033337.2:c.115-23G>CBenign** 
14CAV3Ex2NM_033337.2:c.117G>Cp.Val39= | p.V39=LRG_329t1:c.117G>C, NM_000916.3:c.*7449C>G, NM_001234.3:c.117G>C, NM_001234.4:c.117G>C, NM_033337.1:c.117G>C, NM_033337.2:c.117G>C, XM_005265193.1:c.-1795C>GVOUS08/11/2017
15CAV3Ex2NM_033337.2:c.123T>Cp.Phe41= | p.F41=LRG_329t1:c.123T>C, NM_000916.3:c.*7443A>G, NM_001234.3:c.123T>C, NM_001234.4:c.123T>C, NM_033337.1:c.123T>C, NM_033337.2:c.123T>C, XM_005265193.1:c.-1801A>GBenign05/21/2019 
16CAV3Ex2NM_033337.2:c.125A>Cp.Glu42Ala | p.E42ALRG_329t1:c.125A>C, NM_000916.3:c.*7441T>G, NM_001234.3:c.125A>C, NM_001234.4:c.125A>C, NM_033337.1:c.125A>C, NM_033337.2:c.125A>C, XM_005265193.1:c.-1803T>GVOUS01/04/2017
17CAV3Ex2NM_033337.2:c.129_140delCGTGATCGCAGALRG_329t1:c.129_140delCGTGATCGCAGA, NM_000916.3:c.*7426_*7437delTCTGCGATCACG, NM_001234.3:c.129_140delCGTGATCGCAGA, NM_001234.4:c.129_140delCGTGATCGCAGA, NM_033337.1:c.129_140delCGTGATCGCAGA, NM_033337.2:c.129_140delCGTGATCGCAGA, XM_005265193.1:c.-1818_-1807delTCTGCGATCACGVOUS10/25/2016
18CAV3Ex2NM_033337.2:c.134T>Ap.Ile45Asn | p.I45NLRG_329t1:c.134T>A, NM_000916.3:c.*7432A>T, NM_001234.3:c.134T>A, NM_001234.4:c.134T>A, NM_033337.1:c.134T>A, NM_033337.2:c.134T>A, XM_005265193.1:c.-1812A>TVOUS05/05/2017
19CAV3Ex2NM_033337.2:c.136G>Ap.Ala46Thr | p.A46TLRG_329t1:c.136G>A, NM_000916.3:c.*7430C>T, NM_001234.3:c.136G>A, NM_001234.4:c.136G>A, NM_033337.1:c.136G>A, NM_033337.2:c.136G>A, XM_005265193.1:c.-1814C>TPathogenic01/06/2017 
20CAV3Ex2NM_033337.2:c.137C>Tp.Ala46Val | p.A46VNM_000916.3:c.*7429G>A, NM_001234.3:c.137C>T, NM_001234.4:c.137C>T, NM_033337.1:c.137C>T, NM_033337.2:c.137C>T, XM_005265193.1:c.-1815G>ALikely pathogenic01/25/2016 
21CAV3Ex2NM_033337.2:c.166G>Ap.Gly56Ser | p.G56SLRG_329t1:c.166G>A, NM_000916.3:c.*7400C>T, NM_001234.3:c.166G>A, NM_001234.4:c.166G>A, NM_033337.1:c.166G>A, NM_033337.2:c.166G>A, XM_005265193.1:c.-1844C>TBenign05/21/2019 
22CAV3Ex2NM_033337.2:c.171G>Ap.Val57= | p.V57=NM_000916.3:c.*7395C>T, NM_001234.3:c.171G>A, NM_001234.4:c.171G>A, NM_033337.1:c.171G>A, NM_033337.2:c.171G>ABenign07/24/2013 
23CAV3Ex2NM_033337.2:c.182G>Ap.Ser61Asn | p.S61NLRG_329t1:c.182G>A, NM_000916.3:c.*7384C>T, NM_001234.3:c.182G>A, NM_001234.4:c.182G>A, NM_033337.1:c.182G>A, NM_033337.2:c.182G>A, XM_005265193.1:c.-1860C>TVOUS09/12/2018
24CAV3Ex2NM_033337.2:c.183C>Gp.Ser61Arg | p.S61RLRG_329t1:c.183C>G, NM_000916.3:c.*7383G>C, NM_001234.3:c.183C>G, NM_001234.4:c.183C>G, NM_033337.1:c.183C>G, NM_033337.2:c.183C>G, XM_005265193.1:c.-1861G>CVOUS05/08/2018
25CAV3Ex2NM_033337.2:c.201C>Ap.Val67= | p.V67=NM_000916.3:c.*7365G>T, NM_001234.3:c.201C>A, NM_001234.4:c.201C>A, NM_033337.1:c.201C>A, NM_033337.2:c.201C>A, XM_005265193.1:c.-1879G>TVOUS01/19/2018
26CAV3Ex2NM_033337.2:c.204C>Ap.Ser68= | p.S68=LRG_329t1:c.204C>A, NM_000916.3:c.*7362G>T, NM_001234.3:c.204C>A, NM_001234.4:c.204C>A, NM_033337.1:c.204C>A, NM_033337.2:c.204C>A, XM_005265193.1:c.-1882G>TVOUS10/26/2018
27CAV3Ex2NM_033337.2:c.216C>Gp.Cys72Trp | p.C72WNM_000916.3:c.*7350G>C, NM_001234.3:c.216C>G, NM_001234.4:c.216C>G, NM_033337.1:c.216C>G, NM_033337.2:c.216C>G, XM_005265193.1:c.-1894G>CBenign07/07/2014 
28CAV3Ex2NM_033337.2:c.221G>Ap.Arg74His | p.R74HLRG_329t1:c.221G>A, NM_000916.3:c.*7345C>T, NM_001234.3:c.221G>A, NM_001234.4:c.221G>A, NM_033337.1:c.221G>A, NM_033337.2:c.221G>A, XM_005265193.1:c.-1899C>TVOUS07/13/2017
29CAV3Ex2NM_033337.2:c.233C>Tp.Thr78Met | p.T78MNM_000916.3:c.*7333G>A, NM_001234.3:c.233C>T, NM_001234.4:c.233C>T, NM_033337.1:c.233C>T, NM_033337.2:c.233C>T, XM_005265193.1:c.-1911G>ALikely benign07/15/2015 
30CAV3Ex2NM_033337.2:c.234G>Ap.Thr78= | p.T78=LRG_329t1:c.234G>A, NM_000916.3:c.*7332C>T, NM_001234.3:c.234G>A, NM_001234.4:c.234G>A, NM_033337.1:c.234G>A, NM_033337.2:c.234G>A, XM_005265193.1:c.-1912C>TVOUS09/05/2016
31CAV3Ex2NM_033337.2:c.244G>Ap.Val82Ile | p.V82ILRG_329t1:c.244G>A, NM_000916.3:c.*7322C>T, NM_001234.3:c.244G>A, NM_001234.4:c.244G>A, NM_033337.1:c.244G>A, NM_033337.2:c.244G>A, XM_005265193.1:c.-1922C>TVOUS03/27/2018
32CAV3Ex2NM_033337.2:c.276C>Tp.Phe92= | p.F92=NM_000916.3:c.*7290G>A, NM_001234.3:c.276C>T, NM_001234.4:c.276C>T, NM_033337.1:c.276C>T, NM_033337.2:c.276C>T, XM_005265193.1:c.-1954G>AVOUS07/10/2018
33CAV3Ex2NM_033337.2:c.277G>Ap.Ala93Thr | p.A93TLRG_329t1:c.277G>A, NM_000916.3:c.*7289C>T, NM_001234.3:c.277G>A, NM_001234.4:c.277G>A, NM_033337.1:c.277G>A, NM_033337.2:c.277G>A, XM_005265193.1:c.-1955C>TPathogenic07/12/2017 
34CAV3Ex2NM_033337.2:c.290_292delTCTNM_000916.3:c.*7274_*7276delAGA, NM_001234.3:c.290_292delTCT, NM_001234.4:c.290_292delTCT, NM_033337.1:c.290_292delTCT, NM_033337.2:c.290_292delTCT, XM_005265193.1:c.-1970_-1968delAGAVOUS08/26/2015
35CAV3Ex2NM_033337.2:c.301T>Cp.Trp101Arg | p.W101RLRG_329t1:c.301T>C, NM_000916.3:c.*7265A>G, NM_001234.3:c.301T>C, NM_001234.4:c.301T>C, NM_033337.1:c.301T>C, NM_033337.2:c.301T>C, XM_005265193.1:c.-1979A>GPathogenic06/08/2016 
36CAV3Ex2NM_033337.2:c.312G>Ap.Val104= | p.V104=NM_000916.3:c.*7254C>T, NM_001234.3:c.312G>A, NM_001234.4:c.312G>A, NM_033337.1:c.312G>A, NM_033337.2:c.312G>A, XM_005265193.1:c.-1990C>TVOUS12/11/2014
37CAV3Ex2NM_033337.2:c.336C>Tp.Ile112= | p.I112=NM_000916.3:c.*7230G>A, NM_001234.3:c.336C>T, NM_001234.4:c.336C>T, NM_033337.1:c.336C>T, NM_033337.2:c.336C>T, XM_005265193.1:c.-2014G>ALikely benign07/08/2015 
38CAV3Ex2NM_033337.2:c.366dupAp.Leu123Thrfs*77 | p.L123TfsX77LRG_329t1:c.366_367insA, LRG_329t1:c.366dupA, NM_000916.3:c.*7199_*7200insT, NM_000916.3:c.*7200dupT, NM_001234.3:c.366_367insA, NM_001234.3:c.366dupA, NM_001234.4:c.366_367insA, NM_001234.4:c.366dupA, NM_033337.1:c.366_367insA, NM_033337.1:c.366dupA, NM_033337.2:c.366_367insA, NM_033337.2:c.366dupA, XM_005265193.1:c.-2044dupT, XM_005265193.1:c.-2045_-2044insTLikely pathogenic12/29/2016 
39CAV3Ex2NM_033337.2:c.377G>Ap.Arg126His | p.R126HLRG_329t1:c.377G>A, NM_000916.3:c.*7189C>T, NM_001234.3:c.377G>A, NM_001234.4:c.377G>A, NM_033337.1:c.377G>A, NM_033337.2:c.377G>A, XM_005265193.1:c.-2055C>TVOUS12/19/2018
40CAV3Ex2NM_033337.2:c.384C>Tp.Phe128= | p.F128=LRG_329t1:c.384C>T, NM_000916.3:c.*7182G>A, NM_001234.3:c.384C>T, NM_001234.4:c.384C>T, NM_033337.1:c.384C>T, NM_033337.2:c.384C>T, XM_005265193.1:c.-2062G>AVOUS09/28/2016
41CAV3Ex2NM_033337.2:c.399C>Tp.Phe133= | p.F133=LRG_329t1:c.399C>T, NM_000916.3:c.*7167G>A, NM_001234.3:c.399C>T, NM_001234.4:c.399C>T, NM_033337.1:c.399C>T, NM_033337.2:c.399C>T, XM_005265193.1:c.-2077G>AVOUS09/21/2021
42CAV3Ex2NM_033337.2:c.400G>Ap.Ala134Thr | p.A134TLRG_329t1:c.400G>A, NM_000916.3:c.*7166C>T, NM_001234.3:c.400G>A, NM_001234.4:c.400G>A, NM_033337.1:c.400G>A, NM_033337.2:c.400G>A, XM_005265193.1:c.-2078C>TVOUS05/17/2016
43CAV3Ex2NM_033337.2:c.402G>Cp.Ala134= | p.A134=LRG_329t1:c.402G>C, NM_000916.3:c.*7164C>G, NM_001234.3:c.402G>C, NM_001234.4:c.402G>C, NM_033337.1:c.402G>C, NM_033337.2:c.402G>C, XM_005265193.1:c.-2080C>GVOUS07/12/2018
44CAV3Ex2NM_033337.2:c.417C>Tp.Val139= | p.V139=NM_000916.3:c.*7149G>A, NM_001234.3:c.417C>T, NM_001234.4:c.417C>T, NM_033337.1:c.417C>T, NM_033337.2:c.417C>T, XM_005265193.1:c.-2095G>AVOUS07/02/2018
45CAV3Ex2NM_033337.2:c.433G>Ap.Val145Met | p.V145MLRG_329t1:c.433G>A, NM_000916.3:c.*7133C>T, NM_001234.3:c.433G>A, NM_001234.4:c.433G>A, NM_033337.1:c.433G>A, NM_033337.2:c.433G>A, XM_005265193.1:c.-2111C>TVOUS09/30/2017
46CAV3Ex2NM_033337.2:c.443G>Ap.Arg148Gln | p.R148QLRG_329t1:c.443G>A, NM_000916.3:c.*7123C>T, NM_001234.3:c.443G>A, NM_001234.4:c.443G>A, NM_033337.1:c.443G>A, NM_033337.2:c.443G>A, XM_005265193.1:c.-2121C>TVOUS10/15/2015

* 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.