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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  
1SLC26A4Ex2NM_000441.1:c.15C>Ap.Gly5= | p.G5=NM_000441.1:c.15C>A, NR_028137.1:n.143G>T, XM_001718326.2:c.415G>T, XM_005250425.1:c.15C>ABenign02/13/2018 
2SLC26A4Ex2NM_000441.1:c.28C>Ap.Pro10Thr | p.P10TNM_000441.1:c.28C>A, NR_028137.1:n.130G>T, XM_001718326.2:c.402G>T, XM_005250425.1:c.28C>AVOUS02/06/2017
3SLC26A4Ex2NM_000441.1:c.68C>Ap.Ser23* | p.S23XNM_000441.1:c.68C>A, NR_028137.1:n.90G>T, XM_001718326.2:c.362G>T, XM_005250425.1:c.68C>APathogenic09/20/2016 
4SLC26A4Ex2NM_000441.1:c.85G>Cp.Glu29Gln | p.E29QNM_000441.1:c.85G>C, NR_028137.1:n.73C>G, XM_001718326.2:c.345C>G, XM_005250425.1:c.85G>CPathogenic03/26/2019 
5SLC26A4Ex2NM_000441.1:c.147C>Gp.Ser49Arg | p.S49RNM_000441.1:c.147C>G, NR_028137.1:n.11G>C, XM_001718326.2:c.283G>C, XM_005250425.1:c.147C>GVOUS08/03/2016
6SLC26A4Ex3NM_000441.1:c.236G>Ap.Arg79Gln | p.R79QNM_000441.1:c.236G>A, NR_028137.1:n.-1569C>T, XM_001718326.2:c.70-1366C>T, XM_005250425.1:c.236G>AVOUS05/26/2017
7SLC26A4Ex4NM_000441.1:c.382_384delTTTinsAANM_000441.1:c.382_384delinsAA, XM_001718326.2:c.70-10216_70-10214delinsTT, XM_005250425.1:c.382_384delinsAAPathogenic09/20/2016 
8SLC26A4Ex4NM_000441.1:c.412G>Tp.Val138Phe | p.V138FNM_000441.1:c.412G>T, XM_001718326.2:c.70-10244C>A, XM_005250425.1:c.412G>TPathogenic03/24/2020 
9SLC26A4Ex5NM_000441.1:c.416-7T>CNM_000441.1:c.416-7T>C, XM_001718326.2:c.70-12156A>G, XM_005250425.1:c.416-7T>CLikely benign04/27/2017 
10SLC26A4Ex5NM_000441.1:c.565G>Tp.Ala189Ser | p.A189SNM_000441.1:c.565G>T, XM_001718326.2:c.70-12312C>A, XM_005250425.1:c.565G>TBenign05/05/2016 
11SLC26A4Ex6NM_000441.1:c.626G>Tp.Gly209Val | p.G209VNM_000441.1:c.626G>T, XM_001718326.2:c.70-12969C>A, XM_005250425.1:c.626G>TPathogenic10/02/2017 
12SLC26A4Ex6NM_000441.1:c.707T>Cp.Leu236Pro | p.L236PNM_000441.1:c.707T>C, XM_001718326.2:c.70-13050A>G, XM_005250425.1:c.707T>CPathogenic10/02/2017 
13SLC26A4Ex6NM_000441.1:c.716T>Ap.Val239Asp | p.V239DNM_000441.1:c.716T>A, XM_001718326.2:c.70-13059A>T, XM_005250425.1:c.716T>APathogenic07/15/2016 
14SLC26A4Ex7NM_000441.1:c.845G>Ap.Cys282Tyr | p.C282YNM_000441.1:c.845G>A, XM_001718326.2:c.69+5769C>T, XM_005250425.1:c.845G>AVOUS08/30/2016
15SLC26A4Ex7NM_000441.1:c.898A>Cp.Ile300Leu | p.I300LNM_000441.1:c.898A>C, XM_001718326.2:c.69+5716T>G, XM_005250425.1:c.898A>CLikely benign04/02/2019 
16SLC26A4Ex8NM_000441.1:c.919-2A>GNM_000441.1:c.919-2A>G, XM_001718326.2:c.69+5597T>C, XM_005250425.1:c.919-2A>GPathogenic11/04/2016 
17SLC26A4Ex8NM_000441.1:c.970A>Tp.Asn324Tyr | p.N324YNM_000441.1:c.970A>T, XM_001718326.2:c.69+5544T>A, XM_005250425.1:c.970A>TBenign08/03/2016 
18SLC26A4Ex8NM_000441.1:c.1001+1G>TNM_000441.1:c.1001+1G>T, XM_001718326.2:c.69+5512C>A, XM_005250425.1:c.1001+1G>TPathogenic08/08/2017 
19SLC26A4Ex8NM_000441.1:c.1001+1G>ANM_000441.1:c.1001+1G>A, XM_001718326.2:c.69+5512C>T, XM_005250425.1:c.1001+1G>APathogenic08/17/2018 
20SLC26A4Ex9NM_000441.1:c.1002-9A>CNM_000441.1:c.1002-9A>C, XM_001718326.2:c.69+6T>G, XM_001725942.1:c.*1076T>G, XM_005250425.1:c.1002-9A>C, XM_005250426.1:c.-3010A>C, XM_005250427.1:c.-4684A>C, XM_005250428.1:c.-3010A>CBenign11/28/2017 
21SLC26A4Ex9NM_000441.1:c.1040C>Tp.Ser347Leu | p.S347LNM_000441.1:c.1040C>T, XM_001718326.2:c.28G>A, XM_001725942.1:c.*1029G>A, XM_005250425.1:c.1040C>T, XM_005250426.1:c.-2963C>T, XM_005250427.1:c.-4637C>T, XM_005250428.1:c.-2963C>TVOUS12/19/2014
22SLC26A4Ex9NM_000441.1:c.1061T>Cp.Phe354Ser | p.F354SNM_000441.1:c.1061T>C, XM_001718326.2:c.7A>G, XM_001725942.1:c.*1008A>G, XM_005250425.1:c.1061T>C, XM_005250426.1:c.-2942T>C, XM_005250427.1:c.-4616T>C, XM_005250428.1:c.-2942T>CLikely benign03/21/2016 
23SLC26A4Ex9NM_000441.1:c.1069G>Ap.Ala357Thr | p.A357TNM_000441.1:c.1069G>A, XM_001718326.2:c.-2C>T, XM_001725942.1:c.*1000C>T, XM_005250425.1:c.1069G>A, XM_005250426.1:c.-2934G>A, XM_005250427.1:c.-4608G>A, XM_005250428.1:c.-2934G>ALikely benign03/21/2016 
24SLC26A4Ex10NM_000441.1:c.1222delTNM_000441.1:c.1222delT, XM_001718326.2:c.-1078delA, XM_001725942.1:c.242delA, XM_005250425.1:c.1222delT, XM_005250426.1:c.-1858delT, XM_005250427.1:c.-3532delT, XM_005250428.1:c.-1858delTPathogenic12/16/2015 
25SLC26A4Ex10NM_000441.1:c.1233C>Tp.Ala411= | p.A411=NM_000441.1:c.1233C>T, XM_001718326.2:c.-1089G>A, XM_001725942.1:c.231G>A, XM_005250425.1:c.1233C>T, XM_005250426.1:c.-1847C>T, XM_005250427.1:c.-3521C>T, XM_005250428.1:c.-1847C>TVOUS06/07/2016
26SLC26A4Ex12NM_000441.1:c.1363A>Tp.Ile455Phe | p.I455FNM_000441.1:c.1363A>T, XM_001725942.1:c.-1558T>A, XM_005250425.1:c.1363A>T, XM_005250426.1:c.124A>T, XM_005250427.1:c.70A>T, XM_005250428.1:c.46A>TBenign09/11/2019 
27SLC26A4Ex13NM_000441.1:c.1544+9C>TNM_000441.1:c.1544+9C>T, XM_001725942.1:c.-2964G>A, XM_005250425.1:c.1544+9C>T, XM_005250426.1:c.305+9C>T, XM_005250427.1:c.251+9C>T, XM_005250428.1:c.227+9C>TBenign05/30/2017 
28SLC26A4Ex14NM_000441.1:c.1545-5T>GNM_000441.1:c.1545-5T>G, XM_001725942.1:c.-4953A>C, XM_005250425.1:c.1545-5T>G, XM_005250426.1:c.306-5T>G, XM_005250427.1:c.252-5T>G, XM_005250428.1:c.228-5T>GBenign04/07/2016 
29SLC26A4Ex14NM_000441.1:c.1572C>Tp.Ile524= | p.I524=NM_000441.1:c.1572C>T, XM_001725942.1:c.-4985G>A, XM_005250425.1:c.1572C>T, XM_005250426.1:c.333C>T, XM_005250427.1:c.279C>T, XM_005250428.1:c.255C>TVOUS11/28/2017
30SLC26A4Ex14NM_000441.1:c.1614C>Tp.Asn538= | p.N538=NM_000441.1:c.1614C>T, XM_001725942.1:c.-5027G>A, XM_005250425.1:c.1614C>T, XM_005250426.1:c.375C>T, XM_005250427.1:c.321C>T, XM_005250428.1:c.297C>TVOUS07/23/2015
31SLC26A4Ex14NM_000441.1:c.1614+7A>GNM_000441.1:c.1614+7A>G, XM_001725942.1:c.-5034T>C, XM_005250425.1:c.1614+7A>G, XM_005250426.1:c.375+7A>G, XM_005250427.1:c.321+7A>G, XM_005250428.1:c.297+7A>GLikely benign03/20/2018 
32SLC26A4Ex15NM_000441.1:c.1673A>Gp.Asn558Ser | p.N558SNM_000441.1:c.1673A>G, XM_005250425.1:c.1673A>G, XM_005250426.1:c.434A>G, XM_005250427.1:c.380A>G, XM_005250428.1:c.356A>GVOUS07/12/2018
33SLC26A4Ex16NM_000441.1:c.1708-18T>ANM_000441.1:c.1708-18T>A, XM_005250425.1:c.1708-18T>A, XM_005250426.1:c.469-18T>A, XM_005250427.1:c.415-18T>A, XM_005250428.1:c.391-18T>ABenign05/14/2018 
34SLC26A4Ex16NM_000441.1:c.1730T>Cp.Val577Ala | p.V577ANM_000441.1:c.1730T>C, XM_005250425.1:c.1730T>C, XM_005250426.1:c.491T>C, XM_005250427.1:c.437T>C, XM_005250428.1:c.413T>CVOUS01/22/2015
35SLC26A4Ex16NM_000441.1:c.1790T>Cp.Leu597Ser | p.L597SNM_000441.1:c.1790T>C, XM_005250425.1:c.1790T>C, XM_005250426.1:c.551T>C, XM_005250427.1:c.497T>C, XM_005250428.1:c.473T>CBenign10/28/2015 
36SLC26A4Ex17NM_000441.1:c.1826T>Gp.Val609Gly | p.V609GNM_000441.1:c.1826T>G, XM_005250425.1:c.1826T>G, XM_005250426.1:c.587T>G, XM_005250427.1:c.533T>G, XM_005250428.1:c.509T>GBenign04/07/2016 
37SLC26A4Ex17NM_000441.1:c.1852G>Ap.Asp618Asn | p.D618NNM_000441.1:c.1852G>A, XM_005250425.1:c.1852G>A, XM_005250426.1:c.613G>A, XM_005250427.1:c.559G>A, XM_005250428.1:c.535G>AVOUS01/12/2016
38SLC26A4Ex17NM_000441.1:c.1905G>Ap.Glu635= | p.E635=NM_000441.1:c.1905G>A, XM_005250425.1:c.1905G>A, XM_005250426.1:c.666G>A, XM_005250427.1:c.612G>A, XM_005250428.1:c.588G>AVOUS07/21/2017
39SLC26A4Ex17NM_000441.1:c.1924T>Cp.Ser642Pro | p.S642PNM_000441.1:c.1924T>C, XM_005250425.1:c.1924T>C, XM_005250426.1:c.685T>C, XM_005250427.1:c.631T>C, XM_005250428.1:c.607T>CLikely benign09/07/2016 
40SLC26A4Ex19NM_000441.1:c.2139T>Gp.Ile713Met | p.I713MNM_000441.1:c.2139T>G, XM_005250425.1:c.2139T>G, XM_005250426.1:c.900T>G, XM_005250427.1:c.846T>G, XM_005250428.1:c.822T>GLikely benign05/31/2016 
41SLC26A4Ex19NM_000441.1:c.2190G>Tp.Gln730His | p.Q730HNM_000441.1:c.2190G>T, XM_005250425.1:c.2190G>T, XM_005250426.1:c.951G>T, XM_005250427.1:c.897G>T, XM_005250428.1:c.873G>TLikely benign08/25/2015 
42SLC26A4Ex19NM_000441.1:c.2218G>Ap.Gly740Ser | p.G740SNM_000441.1:c.2218G>A, XM_005250425.1:c.2218G>A, XM_005250426.1:c.979G>A, XM_005250427.1:c.925G>A, XM_005250428.1:c.901G>ABenign09/14/2016 
43SLC26A4Ex19NM_000441.1:c.2227T>Gp.Leu743Val | p.L743VNM_000441.1:c.2227T>G, XM_005250425.1:c.2227T>G, XM_005250426.1:c.988T>G, XM_005250427.1:c.934T>G, XM_005250428.1:c.910T>GVOUS05/01/2017
44SLC26A4Ex20NM_000441.1:c.2283A>Gp.Thr761= | p.T761=NM_000441.1:c.2283A>G, XM_005250425.1:c.2283A>G, XM_005250426.1:c.1044A>G, XM_005250427.1:c.990A>G, XM_005250428.1:c.966A>GVOUS08/30/2015
45SLC26A4Ex21NM_000441.1:c.2326C>Tp.Arg776Cys | p.R776CNM_000441.1:c.2326C>T, XM_005250425.1:c.2326C>T, XM_005250426.1:c.1087C>T, XM_005250427.1:c.1033C>T, XM_005250428.1:c.1009C>TLikely benign08/18/2017 

* 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.