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  
1PCCAEx1NM_000282.3:c.-14C>TVOUS**
2PCCAEx1NM_000282.3:c.85delGp.Ala29Argfs*6 | p.A29RfsX6NM_000282.2:c.85delG, NM_000282.3:c.85delG, NM_001127692.1:c.85delG, NM_001127692.2:c.85delG, NM_001178004.1:c.85delG, XM_005254059.1:c.85delG, XR_109151.1:n.-262delCPathogenic** 
3PCCAEx2NM_000282.3:c.183+3A>TVOUS**
4PCCAEx3NM_000282.3:c.184-17_184-16delTGNM_000282.2:c.184-17_184-16delTG, NM_000282.3:c.184-17_184-16delTG, NM_001127692.1:c.106-17_106-16delTG, NM_001127692.2:c.106-17_106-16delTG, NM_001178004.1:c.184-17_184-16delTG, XM_005254059.1:c.184-17_184-16delTGBenign06/11/2014 
5PCCAEx3NM_000282.3:c.184-17_184-16delGTNM_000282.2:c.184-17_184-16delGT, NM_000282.3:c.184-17_184-16delGT, NM_001127692.1:c.106-17_106-16delGT, NM_001127692.2:c.106-17_106-16delGT, NM_001178004.1:c.184-17_184-16delGT, XM_005254059.1:c.184-17_184-16delGTBenign12/02/2014 
6PCCAEx3NM_000282.3:c.223G>Cp.Ala75Pro | p.A75PNM_000282.2:c.223G>C, NM_000282.3:c.223G>C, NM_001127692.1:c.145G>C, NM_001127692.2:c.145G>C, NM_001178004.1:c.223G>C, XM_005254059.1:c.223G>CVOUS12/02/2014
7PCCAEx3NM_000282.3:c.231+15C>TNM_000282.2:c.231+15C>T, NM_000282.3:c.231+15C>T, NM_001127692.1:c.153+15C>T, NM_001127692.2:c.153+15C>T, NM_001178004.1:c.231+15C>T, XM_005254059.1:c.231+15C>TBenign01/31/2017 
8PCCAEx3NM_000282.3:c.231+29T>AVOUS**
9PCCAEx3NM_000282.3:c.231+42_231+45delTTATBenign11/15/2012 
10PCCAEx4NM_000282.3:c.232-1G>ANM_000282.2:c.232-1G>A, NM_000282.3:c.232-1G>A, NM_001127692.1:c.154-1G>A, NM_001127692.2:c.154-1G>A, NM_001178004.1:c.232-1G>A, XM_005254059.1:c.232-1G>APathogenic12/02/2014 
11PCCAEx4NM_000282.3:c.300+20G>TNM_000282.2:c.300+20G>T, NM_000282.3:c.300+20G>T, NM_001127692.1:c.222+20G>T, NM_001127692.2:c.222+20G>T, NM_001178004.1:c.300+20G>T, XM_005254059.1:c.300+20G>TVOUS09/14/2012
12PCCAEx6NM_000282.3:c.419A>Gp.His140Arg | p.H140RVOUS**
13PCCAEx8NM_000282.3:c.627A>Gp.Ala209= | p.A209=NM_000282.2:c.627A>G, NM_000282.3:c.627A>G, NM_001127692.1:c.549A>G, NM_001127692.2:c.549A>G, NM_001178004.1:c.627A>G, XM_005254059.1:c.627A>GBenign06/11/2014 
14PCCAEx9NM_000282.3:c.686T>Ap.Met229Lys | p.M229KNM_000282.2:c.686T>A, NM_000282.3:c.686T>A, NM_001127692.1:c.608T>A, NM_001127692.2:c.608T>A, NM_001178004.1:c.686T>A, XM_005254059.1:c.686T>AVOUS12/02/2014
15PCCAEx10NM_000282.3:c.775_779delCTAATNM_000282.2:c.775_779delCTAAT, NM_000282.3:c.775_779delCTAAT, NM_001127692.1:c.697_701delCTAAT, NM_001127692.2:c.697_701delCTAAT, NM_001178004.1:c.775_779delCTAAT, XM_005254059.1:c.775_779delCTAATPathogenic12/02/2014 
16PCCAEx10NM_000282.3:c.802C>Tp.Arg268Cys | p.R268CNM_000282.2:c.802C>T, NM_000282.3:c.802C>T, NM_001127692.1:c.724C>T, NM_001127692.2:c.724C>T, NM_001178004.1:c.802C>T, XM_005254059.1:c.802C>TLikely pathogenic07/28/2016 
17PCCAEx11NM_000282.3:c.828T>Cp.Gly276= | p.G276=VOUS**
18PCCAEx11NM_000282.3:c.914+19A>GNM_000282.2:c.914+19A>G, NM_000282.3:c.914+19A>G, NM_001127692.1:c.836+19A>G, NM_001127692.2:c.836+19A>G, NM_001178004.1:c.914+19A>GBenign06/11/2014 
19PCCAEx12NM_000282.3:c.937C>Tp.Arg313* | p.R313XNM_000282.2:c.937C>T, NM_000282.3:c.937C>T, NM_001127692.1:c.859C>T, NM_001127692.2:c.859C>T, NM_001178004.1:c.937C>TPathogenic07/03/2013 
20PCCAEx12NM_000282.3:c.947T>Gp.Met316Arg | p.M316RNM_000282.2:c.947T>G, NM_000282.3:c.947T>G, NM_001127692.1:c.869T>G, NM_001127692.2:c.869T>G, NM_001178004.1:c.947T>G, XM_005254059.1:c.947T>GLikely pathogenic01/12/2017 
21PCCAEx12NM_000282.3:c.1023dupTPathogenic01/21/2013 
22PCCAEx13NM_000282.3:c.1118T>Ap.Met373Lys | p.M373KPathogenic** 
23PCCAEx13NM_000282.3:c.1136G>Tp.Gly379Val | p.G379VNM_000282.2:c.1136G>T, NM_000282.3:c.1136G>T, NM_001127692.1:c.1058G>T, NM_001127692.2:c.1058G>T, NM_001178004.1:c.1136G>T, XM_005254059.1:c.1136G>TVOUS12/02/2014
24PCCAEx14NM_000282.3:c.1226_1227delTTPathogenic** 
25PCCAEx14NM_000282.3:c.1284+1G>APathogenic** 
26PCCAEx14NM_000282.3:c.1284+16G>ANM_000282.2:c.1284+16G>A, NM_000282.3:c.1284+16G>A, NM_001127692.1:c.1206+16G>A, NM_001127692.2:c.1206+16G>A, NM_001178004.1:c.1284+16G>A, XM_005254059.1:c.1284+16G>ABenign01/31/2017 
27PCCAEx16NM_000282.3:c.1423A>Gp.Ile475Val | p.I475VBenign09/14/2012 
28PCCAEx16NM_000282.3:c.1429+7A>GNM_000282.2:c.1429+7A>G, NM_000282.3:c.1429+7A>G, NM_001127692.1:c.1351+7A>G, NM_001127692.2:c.1351+7A>G, NM_001178004.1:c.1429+7A>G, XM_005254059.1:c.1429+7A>GBenign01/13/2015 
29PCCAEx18NM_000282.3:c.1558A>Tp.Ser520Cys | p.S520CVOUS**
30PCCAEx18NM_000282.3:c.1561_1566delGAGAAGinsTATTGCCAATAACCPathogenic12/02/2014 
31PCCAEx18NM_000282.3:c.1576T>Cp.Leu526= | p.L526=Benign** 
32PCCAEx18NM_000282.3:c.1598_1601delTTGTPathogenic** 
33PCCAEx19NM_000282.3:c.1644-31A>GNM_000282.2:c.1644-31A>G, NM_000282.3:c.1644-31A>G, NM_001127692.1:c.1566-31A>G, NM_001127692.2:c.1566-31A>G, NM_001178004.1:c.1644-31A>G, XM_005254059.1:c.1644-31A>GBenign08/25/2016 
34PCCAEx19NM_000282.3:c.1745C>Tp.Ser582Leu | p.S582LBenign** 
35PCCAEx20NM_000282.3:c.1747-3C>GNM_000282.2:c.1747-3C>G, NM_000282.3:c.1747-3C>G, NM_001127692.1:c.1669-3C>G, NM_001127692.2:c.1669-3C>G, NM_001178004.1:c.1747-3C>G, XM_005254059.1:c.1747-3C>GLikely pathogenic01/12/2017 
36PCCAEx20NM_000282.3:c.1788G>Ap.Trp596* | p.W596XNM_000282.2:c.1788G>A, NM_000282.3:c.1788G>A, NM_001127692.1:c.1710G>A, NM_001127692.2:c.1710G>A, NM_001178004.1:c.1788G>A, XM_005254059.1:c.1788G>APathogenic12/02/2014 
37PCCAEx21NM_000282.3:Ex21:Non-amplificationOther Reportable10/15/2014 
38PCCAEx21NM_000282.3:c.1846-40_1846-39insAGATBenign** 
39PCCAEx21NM_000282.3:c.1846-9G>TBenign** 
40PCCAEx21NM_000282.3:c.1896A>Gp.Thr632= | p.T632=VOUS**
41PCCAEx21NM_000282.3:c.1899+4_1899+7delAGTANM_000282.2:c.1899+4_1899+7delAGTA, NM_000282.3:c.1899+4_1899+7delAGTA, NM_001127692.1:c.1821+4_1821+7delAGTA, NM_001127692.2:c.1821+4_1821+7delAGTA, NM_001178004.1:c.1899+4_1899+7delAGTA, XM_005254059.1:c.1899+4_1899+7delAGTAPathogenic12/02/2014 
42PCCAEx23NM_000282.3:c.2106delGPathogenic** 
43PCCAEx23NM_000282.3:c.2118+1G>ANM_000282.2:c.2118+1G>A, NM_000282.3:c.2118+1G>A, NM_001127692.1:c.2040+1G>A, NM_001127692.2:c.2040+1G>A, NM_001178004.1:c.1977+1G>A, NM_001195087.1:c.*4377C>T, NM_033110.1:c.*4377C>T, NM_033110.2:c.*4377C>T, XM_005254083.1:c.*4377C>TLikely pathogenic12/18/2015 
44PCCAEx24NM_000282.3:c.2119-43T>CNM_000282.2:c.2119-43T>C, NM_000282.3:c.2119-43T>C, NM_001127692.1:c.2041-43T>C, NM_001127692.2:c.2041-43T>C, NM_001178004.1:c.1978-43T>C, NM_001195087.1:c.*2075A>G, NM_033110.1:c.*2075A>G, NM_033110.2:c.*2075A>G, XM_005254083.1:c.*2075A>GBenign01/31/2017 
45PCCAEx24NM_000282.3:c.2119-9A>GVOUS**

* 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-Q3.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.