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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  
1WFS1Ex8NM_001145853.1:c.977C>Tp.Ala326Val | p.A326VNM_001145853.1:c.977C>T, NM_006005.2:c.977C>T, NM_006005.3:c.977C>T, XM_001720318.2:c.*1339G>AVOUS03/11/2021
2WFS1Ex8NM_001145853.1:c.1580C>Tp.Thr527Ile | p.T527INM_001145853.1:c.1580C>T, NM_006005.2:c.1580C>T, NM_006005.3:c.1580C>T, XM_001720318.2:c.*736G>AVOUS10/29/2020
3WFS1Ex8NM_001145853.1:c.2552_2553dupTGp.Ala852Trpfs*11 | p.A852WfsX11NM_001145853.1:c.2552_2553dupTG, NM_006005.2:c.2552_2553dupTG, NM_006005.3:c.2552_2553dupTG, XM_001720318.2:c.342_343dupCAVOUS03/11/2021
4WFS1Ex2NM_006005.3:c.9C>Tp.Ser3= | p.S3=NM_001145853.1:c.9C>T, NM_006005.2:c.9C>T, NM_006005.3:c.9C>TBenign05/20/2015 
5WFS1Ex2NM_006005.3:c.20C>Tp.Pro7Leu | p.P7LNM_001145853.1:c.20C>T, NM_006005.2:c.20C>T, NM_006005.3:c.20C>TVOUS01/27/2015
6WFS1Ex2NM_006005.3:c.96G>Ap.Ser32= | p.S32=NM_001145853.1:c.96G>A, NM_006005.2:c.96G>A, NM_006005.3:c.96G>ALikely benign10/25/2018 
7WFS1Ex2NM_006005.3:c.106G>Cp.Glu36Gln | p.E36QNM_001145853.1:c.106G>C, NM_006005.2:c.106G>C, NM_006005.3:c.106G>CVOUS03/28/2019
8WFS1Ex2NM_006005.3:c.114C>Tp.Ser38= | p.S38=NM_001145853.1:c.114C>T, NM_006005.2:c.114C>T, NM_006005.3:c.114C>TLikely benign07/14/2016 
9WFS1Ex2NM_006005.3:c.129A>Tp.Ala43= | p.A43=NM_001145853.1:c.129A>T, NM_006005.2:c.129A>T, NM_006005.3:c.129A>TVOUS02/11/2020
10WFS1Ex2NM_006005.3:c.154C>Ap.Pro52Thr | p.P52TNM_001145853.1:c.154C>A, NM_006005.2:c.154C>A, NM_006005.3:c.154C>AVOUS09/18/2017
11WFS1Ex2NM_006005.3:c.173C>Tp.Ala58Val | p.A58VNM_001145853.1:c.173C>T, NM_006005.2:c.173C>T, NM_006005.3:c.173C>TVOUS12/12/2017
12WFS1Ex2NM_006005.3:c.227G>Tp.Gly76Val | p.G76VNM_001145853.1:c.227G>T, NM_006005.2:c.227G>T, NM_006005.3:c.227G>TLikely benign05/31/2016 
13WFS1Ex4NM_006005.3:c.325C>Tp.His109Tyr | p.H109YNM_001145853.1:c.325C>T, NM_006005.2:c.325C>T, NM_006005.3:c.325C>TVOUS04/17/2017
14WFS1Ex4NM_006005.3:c.353A>Cp.Asp118Ala | p.D118ANM_001145853.1:c.353A>C, NM_006005.2:c.353A>C, NM_006005.3:c.353A>CBenign08/26/2014 
15WFS1Ex4NM_006005.3:c.376G>Ap.Ala126Thr | p.A126TNM_001145853.1:c.376G>A, NM_006005.2:c.376G>A, NM_006005.3:c.376G>APathogenic12/19/2018 
16WFS1Ex4NM_006005.3:c.400G>Ap.Ala134Thr | p.A134TNM_001145853.1:c.400G>A, NM_006005.2:c.400G>A, NM_006005.3:c.400G>AVOUS02/27/2018
17WFS1Ex5NM_006005.3:c.461-15C>TNM_001145853.1:c.461-15C>T, NM_006005.2:c.461-15C>T, NM_006005.3:c.461-15C>TBenign08/04/2014 
18WFS1Ex5NM_006005.3:c.461-9A>GNM_001145853.1:c.461-9A>G, NM_006005.2:c.461-9A>G, NM_006005.3:c.461-9A>GBenign08/04/2014 
19WFS1Ex5NM_006005.3:c.482G>Ap.Arg161Gln | p.R161QNM_001145853.1:c.482G>A, NM_006005.2:c.482G>A, NM_006005.3:c.482G>ALikely benign08/04/2014 
20WFS1Ex5NM_006005.3:c.498C>Gp.Leu166= | p.L166=NM_001145853.1:c.498C>G, NM_006005.2:c.498C>G, NM_006005.3:c.498C>GVOUS11/08/2017
21WFS1Ex5NM_006005.3:c.577A>Cp.Lys193Gln | p.K193QNM_001145853.1:c.577A>C, NM_006005.2:c.577A>C, NM_006005.3:c.577A>CLikely benign10/07/2020 
22WFS1Ex5NM_006005.3:c.615C>Gp.Gly205= | p.G205=NM_001145853.1:c.615C>G, NM_006005.2:c.615C>G, NM_006005.3:c.615C>GVOUS10/17/2017
23WFS1Ex6NM_006005.3:c.634G>Ap.Gly212Arg | p.G212RNM_001145853.1:c.634G>A, NM_006005.2:c.634G>A, NM_006005.3:c.634G>AVOUS02/06/2017
24WFS1Ex6NM_006005.3:c.683G>Ap.Arg228His | p.R228HNM_001145853.1:c.683G>A, NM_006005.2:c.683G>A, NM_006005.3:c.683G>AVOUS02/20/2018
25WFS1Ex6NM_006005.3:c.684C>Gp.Arg228= | p.R228=NM_001145853.1:c.684C>G, NM_006005.2:c.684C>G, NM_006005.3:c.684C>GBenign10/17/2014 
26WFS1Ex6NM_006005.3:c.712+16G>ANM_001145853.1:c.712+16G>A, NM_006005.2:c.712+16G>A, NM_006005.3:c.712+16G>ABenign07/20/2017 
27WFS1Ex7NM_006005.3:c.726C>Tp.Ile242= | p.I242=NM_001145853.1:c.726C>T, NM_006005.2:c.726C>T, NM_006005.3:c.726C>TVOUS05/01/2017
28WFS1Ex7NM_006005.3:c.728C>Tp.Ala243Val | p.A243VNM_001145853.1:c.728C>T, NM_006005.2:c.728C>T, NM_006005.3:c.728C>TVOUS02/27/2018
29WFS1Ex8NM_006005.3:c.*47T>CNM_001145853.1:c.*47T>C, NM_006005.2:c.*47T>C, NM_006005.3:c.*47T>C, XM_001720318.2:c.175A>GBenign09/28/2017 
30WFS1Ex8NM_006005.3:c.884C>Tp.Ala295Val | p.A295VNM_001145853.1:c.884C>T, NM_006005.2:c.884C>T, NM_006005.3:c.884C>T, XM_001720318.2:c.*1432G>AVOUS03/15/2018
31WFS1Ex8NM_006005.3:c.917T>Cp.Met306Thr | p.M306TNM_001145853.1:c.917T>C, NM_006005.2:c.917T>C, NM_006005.3:c.917T>C, XM_001720318.2:c.*1399A>GBenign01/31/2014 
32WFS1Ex8NM_006005.3:c.937C>Tp.His313Tyr | p.H313YNM_001145853.1:c.937C>T, NM_006005.2:c.937C>T, NM_006005.3:c.937C>T, XM_001720318.2:c.*1379G>ALikely pathogenic09/14/2016 
33WFS1Ex8NM_006005.3:c.975C>Tp.Asn325= | p.N325=NM_001145853.1:c.975C>T, NM_006005.2:c.975C>T, NM_006005.3:c.975C>T, XM_001720318.2:c.*1341G>AVOUS06/07/2016
34WFS1Ex8NM_006005.3:c.977C>Tp.Ala326Val | p.A326VNM_001145853.1:c.977C>T, NM_006005.2:c.977C>T, NM_006005.3:c.977C>T, XM_001720318.2:c.*1339G>AVOUS01/18/2021
35WFS1Ex8NM_006005.3:c.994A>Tp.Ile332Phe | p.I332FNM_001145853.1:c.994A>T, NM_006005.2:c.994A>T, NM_006005.3:c.994A>T, XM_001720318.2:c.*1322T>AVOUS09/07/2016
36WFS1Ex8NM_006005.3:c.997G>Ap.Val333Ile | p.V333INM_001145853.1:c.997G>A, NM_006005.2:c.997G>A, NM_006005.3:c.997G>A, XM_001720318.2:c.*1319C>TBenign07/30/2013 
37WFS1Ex8NM_006005.3:c.1014C>Tp.Ile338= | p.I338=NM_001145853.1:c.1014C>T, NM_006005.2:c.1014C>T, NM_006005.3:c.1014C>T, XM_001720318.2:c.*1302G>AVOUS05/25/2017
38WFS1Ex8NM_006005.3:c.1023C>Tp.Phe341= | p.F341=NM_001145853.1:c.1023C>T, NM_006005.2:c.1023C>T, NM_006005.3:c.1023C>T, XM_001720318.2:c.*1293G>ABenign11/20/2013 
39WFS1Ex8NM_006005.3:c.1060_1062delTTCp.Phe354del | p.F354delNM_001145853.1:c.1060_1062delTTC, NM_006005.2:c.1060_1062delTTC, NM_006005.3:c.1060_1062delTTC, XM_001720318.2:c.*1254_*1256delGAAPathogenic06/21/2016 
40WFS1Ex8NM_006005.3:c.1143G>Ap.Leu381= | p.L381=NM_001145853.1:c.1143G>A, NM_006005.2:c.1143G>A, NM_006005.3:c.1143G>A, XM_001720318.2:c.*1173C>TLikely benign08/17/2016 
41WFS1Ex8NM_006005.3:c.1149C>Tp.Arg383= | p.R383=NM_001145853.1:c.1149C>T, NM_006005.2:c.1149C>T, NM_006005.3:c.1149C>T, XM_001720318.2:c.*1167G>AVOUS11/15/2017
42WFS1Ex8NM_006005.3:c.1152C>Tp.Phe384= | p.F384=NM_001145853.1:c.1152C>T, NM_006005.2:c.1152C>T, NM_006005.3:c.1152C>T, XM_001720318.2:c.*1164G>AVOUS06/28/2018
43WFS1Ex8NM_006005.3:c.1185C>Tp.Val395= | p.V395=NM_001145853.1:c.1185C>T, NM_006005.2:c.1185C>T, NM_006005.3:c.1185C>T, XM_001720318.2:c.*1131G>ABenign07/30/2013 
44WFS1Ex8NM_006005.3:c.1195T>Gp.Trp399Gly | p.W399GNM_001145853.1:c.1195T>G, NM_006005.2:c.1195T>G, NM_006005.3:c.1195T>G, XM_001720318.2:c.*1121A>CVOUS01/12/2017
45WFS1Ex8NM_006005.3:c.1294C>Gp.Leu432Val | p.L432VNM_001145853.1:c.1294C>G, NM_006005.2:c.1294C>G, NM_006005.3:c.1294C>G, XM_001720318.2:c.*1022G>CBenign03/09/2017 
46WFS1Ex8NM_006005.3:c.1367G>Ap.Arg456His | p.R456HNM_001145853.1:c.1367G>A, NM_006005.2:c.1367G>A, NM_006005.3:c.1367G>A, XM_001720318.2:c.*949C>TBenign06/06/2019 
47WFS1Ex8NM_006005.3:c.1416C>Ap.Pro472= | p.P472=NM_001145853.1:c.1416C>A, NM_006005.2:c.1416C>A, NM_006005.3:c.1416C>A, XM_001720318.2:c.*900G>TVOUS09/07/2016
48WFS1Ex8NM_006005.3:c.1495C>Tp.Leu499Phe | p.L499FNM_001145853.1:c.1495C>T, NM_006005.2:c.1495C>T, NM_006005.3:c.1495C>T, XM_001720318.2:c.*821G>ABenign05/26/2016 
49WFS1Ex8NM_006005.3:c.1500C>Tp.Asn500= | p.N500=NM_001145853.1:c.1500C>T, NM_006005.2:c.1500C>T, NM_006005.3:c.1500C>T, XM_001720318.2:c.*816G>ABenign07/30/2013 
50WFS1Ex8NM_006005.3:c.1536C>Tp.Leu512= | p.L512=NM_001145853.1:c.1536C>T, NM_006005.2:c.1536C>T, NM_006005.3:c.1536C>T, XM_001720318.2:c.*780G>AVOUS01/20/2017
51WFS1Ex8NM_006005.3:c.1554G>Ap.Met518Ile | p.M518INM_001145853.1:c.1554G>A, NM_006005.2:c.1554G>A, NM_006005.3:c.1554G>A, XM_001720318.2:c.*762C>TLikely benign05/31/2016 
52WFS1Ex8NM_006005.3:c.1580C>Tp.Thr527Ile | p.T527INM_001145853.1:c.1580C>T, NM_006005.2:c.1580C>T, NM_006005.3:c.1580C>T, XM_001720318.2:c.*736G>AVOUS04/17/2020
53WFS1Ex8NM_006005.3:c.1597C>Tp.Pro533Ser | p.P533SNM_001145853.1:c.1597C>T, NM_006005.2:c.1597C>T, NM_006005.3:c.1597C>T, XM_001720318.2:c.*719G>AVOUS07/03/2018
54WFS1Ex8NM_006005.3:c.1633G>Ap.Val545Met | p.V545MNM_001145853.1:c.1633G>A, NM_006005.2:c.1633G>A, NM_006005.3:c.1633G>A, XM_001720318.2:c.*683C>TVOUS02/27/2018
55WFS1Ex8NM_006005.3:c.1672C>Tp.Arg558Cys | p.R558CNM_001145853.1:c.1672C>T, NM_006005.2:c.1672C>T, NM_006005.3:c.1672C>T, XM_001720318.2:c.*644G>ALikely pathogenic01/29/2015 
56WFS1Ex8NM_006005.3:c.1674C>Tp.Arg558= | p.R558=NM_001145853.1:c.1674C>T, NM_006005.2:c.1674C>T, NM_006005.3:c.1674C>T, XM_001720318.2:c.*642G>ABenign01/12/2017 
57WFS1Ex8NM_006005.3:c.1675G>Ap.Ala559Thr | p.A559TNM_001145853.1:c.1675G>A, NM_006005.2:c.1675G>A, NM_006005.3:c.1675G>A, XM_001720318.2:c.*641C>TBenign01/30/2014 
58WFS1Ex8NM_006005.3:c.1725C>Tp.Ala575= | p.A575=NM_001145853.1:c.1725C>T, NM_006005.2:c.1725C>T, NM_006005.3:c.1725C>T, XM_001720318.2:c.*591G>ABenign11/20/2013 
59WFS1Ex8NM_006005.3:c.1726G>Ap.Gly576Ser | p.G576SNM_001145853.1:c.1726G>A, NM_006005.2:c.1726G>A, NM_006005.3:c.1726G>A, XM_001720318.2:c.*590C>TBenign07/23/2015 
60WFS1Ex8NM_006005.3:c.1743C>Tp.Gly581= | p.G581=NM_001145853.1:c.1743C>T, NM_006005.2:c.1743C>T, NM_006005.3:c.1743C>T, XM_001720318.2:c.*573G>AVOUS08/10/2015
61WFS1Ex8NM_006005.3:c.1760G>Ap.Arg587Gln | p.R587QNM_001145853.1:c.1760G>A, NM_006005.2:c.1760G>A, NM_006005.3:c.1760G>A, XM_001720318.2:c.*556C>TVOUS05/29/2018
62WFS1Ex8NM_006005.3:c.1779G>Cp.Glu593Asp | p.E593DNM_001145853.1:c.1779G>C, NM_006005.2:c.1779G>C, NM_006005.3:c.1779G>C, XM_001720318.2:c.*537C>GLikely benign08/17/2016 
63WFS1Ex8NM_006005.3:c.1792G>Ap.Ala598Thr | p.A598TNM_001145853.1:c.1792G>A, NM_006005.2:c.1792G>A, NM_006005.3:c.1792G>A, XM_001720318.2:c.*524C>TLikely benign09/01/2017 
64WFS1Ex8NM_006005.3:c.1801G>Ap.Val601Met | p.V601MNM_001145853.1:c.1801G>A, NM_006005.2:c.1801G>A, NM_006005.3:c.1801G>A, XM_001720318.2:c.*515C>TVOUS08/14/2017
65WFS1Ex8NM_006005.3:c.1805C>Tp.Ala602Val | p.A602VNM_001145853.1:c.1805C>T, NM_006005.2:c.1805C>T, NM_006005.3:c.1805C>T, XM_001720318.2:c.*511G>ABenign08/14/2013 
66WFS1Ex8NM_006005.3:c.1832G>Ap.Arg611His | p.R611HNM_001145853.1:c.1832G>A, NM_006005.2:c.1832G>A, NM_006005.3:c.1832G>A, XM_001720318.2:c.*484C>TBenign07/30/2013 
67WFS1Ex8NM_006005.3:c.1863G>Cp.Val621= | p.V621=NM_001145853.1:c.1863G>C, NM_006005.2:c.1863G>C, NM_006005.3:c.1863G>C, XM_001720318.2:c.*453C>GVOUS03/31/2021
68WFS1Ex8NM_006005.3:c.1871T>Cp.Val624Ala | p.V624ANM_001145853.1:c.1871T>C, NM_006005.2:c.1871T>C, NM_006005.3:c.1871T>C, XM_001720318.2:c.*445A>GVOUS07/19/2016
69WFS1Ex8NM_006005.3:c.1883C>Tp.Thr628Met | p.T628MNM_001145853.1:c.1883C>T, NM_006005.2:c.1883C>T, NM_006005.3:c.1883C>T, XM_001720318.2:c.*433G>AVOUS08/20/2019
70WFS1Ex8NM_006005.3:c.1922C>Tp.Thr641Met | p.T641MNM_001145853.1:c.1922C>T, NM_006005.2:c.1922C>T, NM_006005.3:c.1922C>T, XM_001720318.2:c.*394G>AVOUS04/30/2018
71WFS1Ex8NM_006005.3:c.1947C>Tp.Phe649= | p.F649=NM_001145853.1:c.1947C>T, NM_006005.2:c.1947C>T, NM_006005.3:c.1947C>T, XM_001720318.2:c.*369G>AVOUS07/19/2016
72WFS1Ex8NM_006005.3:c.2029G>Ap.Ala677Thr | p.A677TNM_001145853.1:c.2029G>A, NM_006005.2:c.2029G>A, NM_006005.3:c.2029G>A, XM_001720318.2:c.*287C>TVOUS11/07/2014
73WFS1Ex8NM_006005.3:c.2039A>Cp.Glu680Ala | p.E680ANM_001145853.1:c.2039A>C, NM_006005.2:c.2039A>C, NM_006005.3:c.2039A>C, XM_001720318.2:c.*277T>GVOUS09/07/2018
74WFS1Ex8NM_006005.3:c.2051C>Tp.Ala684Val | p.A684VNM_001145853.1:c.2051C>T, NM_006005.2:c.2051C>T, NM_006005.3:c.2051C>T, XM_001720318.2:c.*265G>APathogenic02/11/2020 
75WFS1Ex8NM_006005.3:c.2052G>Ap.Ala684= | p.A684=NM_001145853.1:c.2052G>A, NM_006005.2:c.2052G>A, NM_006005.3:c.2052G>A, XM_001720318.2:c.*264C>TLikely benign07/12/2017 
76WFS1Ex8NM_006005.3:c.2054G>Ap.Arg685His | p.R685HNM_001145853.1:c.2054G>A, NM_006005.2:c.2054G>A, NM_006005.3:c.2054G>A, XM_001720318.2:c.*262C>TVOUS01/09/2018
77WFS1Ex8NM_006005.3:c.2122C>Tp.Arg708Cys | p.R708CNM_001145853.1:c.2122C>T, NM_006005.2:c.2122C>T, NM_006005.3:c.2122C>T, XM_001720318.2:c.*194G>AVOUS12/02/2015
78WFS1Ex8NM_006005.3:c.2124C>Tp.Arg708= | p.R708=NM_001145853.1:c.2124C>T, NM_006005.2:c.2124C>T, NM_006005.3:c.2124C>T, XM_001720318.2:c.*192G>ABenign01/09/2017 
79WFS1Ex8NM_006005.3:c.2145C>Tp.Ser715= | p.S715=NM_001145853.1:c.2145C>T, NM_006005.2:c.2145C>T, NM_006005.3:c.2145C>T, XM_001720318.2:c.*171G>AVOUS03/14/2019
80WFS1Ex8NM_006005.3:c.2158A>Gp.Ile720Val | p.I720VNM_001145853.1:c.2158A>G, NM_006005.2:c.2158A>G, NM_006005.3:c.2158A>G, XM_001720318.2:c.*158T>CBenign02/24/2017 
81WFS1Ex8NM_006005.3:c.2181C>Tp.Ile727= | p.I727=NM_001145853.1:c.2181C>T, NM_006005.2:c.2181C>T, NM_006005.3:c.2181C>T, XM_001720318.2:c.*135G>AVOUS03/20/2015
82WFS1Ex8NM_006005.3:c.2195G>Ap.Arg732His | p.R732HNM_001145853.1:c.2195G>A, NM_006005.2:c.2195G>A, NM_006005.3:c.2195G>A, XM_001720318.2:c.*121C>TVOUS03/28/2016
83WFS1Ex8NM_006005.3:c.2201T>Ap.Leu734His | p.L734HNM_001145853.1:c.2201T>A, NM_006005.2:c.2201T>A, NM_006005.3:c.2201T>A, XM_001720318.2:c.*115A>TVOUS09/26/2017
84WFS1Ex8NM_006005.3:c.2205C>Tp.Tyr735= | p.Y735=NM_001145853.1:c.2205C>T, NM_006005.2:c.2205C>T, NM_006005.3:c.2205C>T, XM_001720318.2:c.*111G>ABenign02/09/2015 
85WFS1Ex8NM_006005.3:c.2233G>Ap.Gly745Ser | p.G745SNM_001145853.1:c.2233G>A, NM_006005.2:c.2233G>A, NM_006005.3:c.2233G>A, XM_001720318.2:c.*83C>TLikely benign08/17/2016 
86WFS1Ex8NM_006005.3:c.2322G>Ap.Lys774= | p.K774=NM_001145853.1:c.2322G>A, NM_006005.2:c.2322G>A, NM_006005.3:c.2322G>A, XM_001720318.2:c.573C>TBenign11/20/2013 
87WFS1Ex8NM_006005.3:c.2327A>Tp.Glu776Val | p.E776VNM_001145853.1:c.2327A>T, NM_006005.2:c.2327A>T, NM_006005.3:c.2327A>T, XM_001720318.2:c.568T>ABenign11/21/2017 
88WFS1Ex8NM_006005.3:c.2335G>Ap.Val779Met | p.V779MNM_001145853.1:c.2335G>A, NM_006005.2:c.2335G>A, NM_006005.3:c.2335G>A, XM_001720318.2:c.560C>TBenign05/26/2016 
89WFS1Ex8NM_006005.3:c.2356G>Ap.Gly786Ser | p.G786SNM_001145853.1:c.2356G>A, NM_006005.2:c.2356G>A, NM_006005.3:c.2356G>A, XM_001720318.2:c.539C>TBenign08/14/2013 
90WFS1Ex8NM_006005.3:c.2366G>Cp.Gly789Ala | p.G789ANM_001145853.1:c.2366G>C, NM_006005.2:c.2366G>C, NM_006005.3:c.2366G>C, XM_001720318.2:c.529C>GVOUS08/22/2019
91WFS1Ex8NM_006005.3:c.2370G>Ap.Ser790= | p.S790=NM_001145853.1:c.2370G>A, NM_006005.2:c.2370G>A, NM_006005.3:c.2370G>A, XM_001720318.2:c.525C>TBenign02/21/2017 
92WFS1Ex8NM_006005.3:c.2370G>Cp.Ser790= | p.S790=NM_001145853.1:c.2370G>C, NM_006005.2:c.2370G>C, NM_006005.3:c.2370G>C, XM_001720318.2:c.525C>GVOUS08/03/2016
93WFS1Ex8NM_006005.3:c.2380G>Ap.Glu794Lys | p.E794KNM_001145853.1:c.2380G>A, NM_006005.2:c.2380G>A, NM_006005.3:c.2380G>A, XM_001720318.2:c.515C>TVOUS03/16/2015
94WFS1Ex8NM_006005.3:c.2385G>Ap.Glu795= | p.E795=NM_001145853.1:c.2385G>A, NM_006005.2:c.2385G>A, NM_006005.3:c.2385G>A, XM_001720318.2:c.510C>TVOUS07/12/2017
95WFS1Ex8NM_006005.3:c.2398A>Gp.Lys800Glu | p.K800ENM_001145853.1:c.2398A>G, NM_006005.2:c.2398A>G, NM_006005.3:c.2398A>G, XM_001720318.2:c.497T>CVOUS11/10/2017
96WFS1Ex8NM_006005.3:c.2424C>Tp.Ser808= | p.S808=NM_001145853.1:c.2424C>T, NM_006005.2:c.2424C>T, NM_006005.3:c.2424C>T, XM_001720318.2:c.471G>AVOUS04/04/2017
97WFS1Ex8NM_006005.3:c.2433G>Ap.Lys811= | p.K811=NM_001145853.1:c.2433G>A, NM_006005.2:c.2433G>A, NM_006005.3:c.2433G>A, XM_001720318.2:c.462C>TBenign06/06/2019 
98WFS1Ex8NM_006005.3:c.2452C>Tp.Arg818Cys | p.R818CNM_001145853.1:c.2452C>T, NM_006005.2:c.2452C>T, NM_006005.3:c.2452C>T, XM_001720318.2:c.443G>ALikely benign12/21/2015 
99WFS1Ex8NM_006005.3:c.2470G>Ap.Glu824Lys | p.E824KNM_001145853.1:c.2470G>A, NM_006005.2:c.2470G>A, NM_006005.3:c.2470G>A, XM_001720318.2:c.425C>TVOUS11/02/2016
100WFS1Ex8NM_006005.3:c.2486T>Cp.Leu829Pro | p.L829PNM_001145853.1:c.2486T>C, NM_006005.2:c.2486T>C, NM_006005.3:c.2486T>C, XM_001720318.2:c.409A>GLikely pathogenic08/12/2020 
101WFS1Ex8NM_006005.3:c.2492G>Ap.Gly831Asp | p.G831DNM_001145853.1:c.2492G>A, NM_006005.2:c.2492G>A, NM_006005.3:c.2492G>A, XM_001720318.2:c.403C>TVOUS12/28/2020
102WFS1Ex8NM_006005.3:c.2500G>Ap.Gly834Ser | p.G834SNM_001145853.1:c.2500G>A, NM_006005.2:c.2500G>A, NM_006005.3:c.2500G>A, XM_001720318.2:c.395C>TVOUS10/08/2013
103WFS1Ex8NM_006005.3:c.2549G>Ap.Cys850Tyr | p.C850YNM_001145853.1:c.2549G>A, NM_006005.2:c.2549G>A, NM_006005.3:c.2549G>A, XM_001720318.2:c.346C>TVOUS04/29/2016
104WFS1Ex8NM_006005.3:c.2552_2553dupTGp.Ala852Trpfs*11 | p.A852WfsX11NM_001145853.1:c.2552_2553dupTG, NM_006005.2:c.2552_2553dupTG, NM_006005.3:c.2552_2553dupTG, XM_001720318.2:c.342_343dupCAVOUS01/18/2021
105WFS1Ex8NM_006005.3:c.2565A>Gp.Ser855= | p.S855=NM_001145853.1:c.2565A>G, NM_006005.2:c.2565A>G, NM_006005.3:c.2565A>G, XM_001720318.2:c.330T>CBenign10/17/2019 
106WFS1Ex8NM_006005.3:c.2596G>Ap.Asp866Asn | p.D866NNM_001145853.1:c.2596G>A, NM_006005.2:c.2596G>A, NM_006005.3:c.2596G>A, XM_001720318.2:c.299C>TBenign06/10/2014 
107WFS1Ex8NM_006005.3:c.2603G>Ap.Arg868His | p.R868HNM_001145853.1:c.2603G>A, NM_006005.2:c.2603G>A, NM_006005.3:c.2603G>A, XM_001720318.2:c.292C>TVOUS06/22/2017
108WFS1Ex8NM_006005.3:c.2611G>Ap.Val871Met | p.V871MNM_001145853.1:c.2611G>A, NM_006005.2:c.2611G>A, NM_006005.3:c.2611G>A, XM_001720318.2:c.284C>TBenign08/09/2013 
109WFS1Ex8NM_006005.3:c.2620G>Ap.Ala874Thr | p.A874TNM_001145853.1:c.2620G>A, NM_006005.2:c.2620G>A, NM_006005.3:c.2620G>A, XM_001720318.2:c.275C>TVOUS10/20/2015
110WFS1Ex8NM_006005.3:c.2627A>Cp.Lys876Thr | p.K876TNM_001145853.1:c.2627A>C, NM_006005.2:c.2627A>C, NM_006005.3:c.2627A>C, XM_001720318.2:c.268T>GVOUS07/09/2015
111WFS1Ex8NM_006005.3:c.2643_2644delCTp.Phe883Leufs*56 | p.F883LfsX56NM_001145853.1:c.2643_2644delCT, NM_006005.2:c.2643_2644delCT, NM_006005.3:c.2643_2644delCT, XM_001720318.2:c.251_252delAGPathogenic11/20/2018 

* 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.