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  
1KCNT1Ex1NM_020822.2:c.30G>Ap.Pro10= | p.P10=NM_001012415.2:c.-2821C>T, NM_001101677.1:c.-2821C>T, NM_001272003.1:c.30G>A, NM_020822.1:c.30G>A, NM_020822.2:c.30G>ABenign10/02/2014 
2KCNT1Ex1NM_020822.2:c.59G>Cp.Gly20Ala | p.G20ANM_001012415.2:c.-2850C>G, NM_001101677.1:c.-2850C>G, NM_001272003.1:c.59G>C, NM_020822.1:c.59G>C, NM_020822.2:c.59G>C, XM_005263403.1:c.-2850C>G, XM_005263407.1:c.59G>CBenign10/02/2014 
3KCNT1Ex1NM_020822.2:c.99A>Gp.Gln33= | p.Q33=NM_001012415.2:c.-2890T>C, NM_001101677.1:c.-2890T>C, NM_001272003.1:c.99A>G, NM_020822.1:c.99A>G, NM_020822.2:c.99A>G, XM_005263403.1:c.-2890T>C, XM_005263407.1:c.99A>GLikely benign07/31/2019 
4KCNT1Ex2NM_020822.2:c.116C>Tp.Pro39Leu | p.P39LNM_001272003.1:c.110+12214C>T, NM_020822.1:c.116C>T, NM_020822.2:c.116C>T, XM_005263407.1:c.116C>TBenign08/07/2014 
5KCNT1Ex2NM_020822.2:c.254+10G>CNM_001272003.1:c.110+12362G>C, NM_020822.1:c.254+10G>C, NM_020822.2:c.254+10G>C, XM_005263407.1:c.254+10G>CVOUS05/27/2015
6KCNT1Ex2NM_020822.2:c.254+20delTinsGGCNM_001272003.1:c.110+12372delinsGGC, NM_020822.1:c.254+20delinsGGC, NM_020822.2:c.254+20delinsGGC, XM_005263407.1:c.254+20delinsGGCLikely benign11/16/2016 
7KCNT1Ex2NM_020822.2:c.254+20T>CNM_001272003.1:c.110+12372T>C, NM_020822.1:c.254+20T>C, NM_020822.2:c.254+20T>C, XM_005263407.1:c.254+20T>CBenign02/05/2016 
8KCNT1Ex3NM_020822.2:c.279C>Tp.Asn93= | p.N93=NM_001272003.1:c.135C>T, NM_020822.1:c.279C>T, NM_020822.2:c.279C>T, XM_005263407.1:c.279C>TVOUS08/29/2019
9KCNT1Ex3NM_020822.2:c.285C>Tp.Asn95= | p.N95=NM_001272003.1:c.141C>T, NM_020822.1:c.285C>T, NM_020822.2:c.285C>T, XM_005263407.1:c.285C>TVOUS07/07/2016
10KCNT1Ex3NM_020822.2:c.299G>Ap.Arg100Gln | p.R100QNM_001272003.1:c.155G>A, NM_020822.1:c.299G>A, NM_020822.2:c.299G>A, XM_005263407.1:c.299G>AVOUS04/23/2015
11KCNT1Ex3NM_020822.2:c.333G>Ap.Ser111= | p.S111=NM_001272003.1:c.189G>A, NM_020822.1:c.333G>A, NM_020822.2:c.333G>A, XM_005263407.1:c.333G>ALikely benign05/28/2015 
12KCNT1Ex4NM_020822.2:c.408C>Tp.Leu136= | p.L136=NM_001272003.1:c.264C>T, NM_020822.1:c.408C>T, NM_020822.2:c.408C>T, XM_005263407.1:c.408C>TVOUS03/03/2015
13KCNT1Ex4NM_020822.2:c.434+10G>AVOUS09/25/2019
14KCNT1Ex5NM_020822.2:c.467A>Gp.Asn156Ser | p.N156SNM_001272003.1:c.323A>G, NM_020822.1:c.467A>G, NM_020822.2:c.467A>G, XM_005263407.1:c.467A>GLikely benign06/04/2019 
15KCNT1Ex5NM_020822.2:c.474G>Ap.Ser158= | p.S158=NM_001272003.1:c.330G>A, NM_020822.1:c.474G>A, NM_020822.2:c.474G>A, XM_005263407.1:c.474G>AVOUS01/13/2017
16KCNT1Ex6NM_020822.2:c.522G>Ap.Met174Ile | p.M174INM_001272003.1:c.378G>A, NM_020822.1:c.522G>A, NM_020822.2:c.522G>A, XM_005263407.1:c.522G>AVOUS09/20/2018
17KCNT1Ex8NM_020822.2:c.675+4G>CNM_001272003.1:c.531+4G>C, NM_020822.1:c.675+4G>C, NM_020822.2:c.675+4G>C, XM_005263407.1:c.675+4G>CVOUS05/28/2015
18KCNT1Ex10NM_020822.2:c.776C>Tp.Ala259Val | p.A259VNM_001272003.1:c.632C>T, NM_020822.1:c.776C>T, NM_020822.2:c.776C>T, XM_005263407.1:c.776C>TVOUS08/24/2016
19KCNT1Ex10NM_020822.2:c.851C>Tp.Thr284Met | p.T284MNM_001272003.1:c.707C>T, NM_020822.1:c.851C>T, NM_020822.2:c.851C>T, XM_005263407.1:c.851C>TVOUS11/03/2020
20KCNT1Ex10NM_020822.2:c.854+10G>ANM_001272003.1:c.710+10G>A, NM_020822.1:c.854+10G>A, NM_020822.2:c.854+10G>A, XM_005263407.1:c.854+10G>ALikely benign08/11/2017 
21KCNT1Ex11NM_020822.2:c.867C>Ap.Ile289= | p.I289=NM_001272003.1:c.732C>A, NM_020822.1:c.867C>A, NM_020822.2:c.867C>A, XM_005263407.1:c.867C>AVOUS09/14/2016
22KCNT1Ex11NM_020822.2:c.885G>Ap.Ala295= | p.A295=NM_001272003.1:c.750G>A, NM_020822.1:c.885G>A, NM_020822.2:c.885G>A, XM_005263407.1:c.885G>AVOUS07/12/2019
23KCNT1Ex11NM_020822.2:c.889G>Ap.Glu297Lys | p.E297KNM_001272003.1:c.754G>A, NM_020822.1:c.889G>A, NM_020822.2:c.889G>A, XM_005263407.1:c.889G>AVOUS06/10/2014
24KCNT1Ex11NM_020822.2:c.928G>Ap.Val310Ile | p.V310INM_001272003.1:c.793G>A, NM_020822.1:c.928G>A, NM_020822.2:c.928G>A, XM_005263407.1:c.928G>AVOUS07/12/2016
25KCNT1Ex11NM_020822.2:c.942C>Tp.Thr314= | p.T314=NM_001272003.1:c.807C>T, NM_020822.1:c.942C>T, NM_020822.2:c.942C>T, XM_005263407.1:c.942C>TVOUS04/16/2015
26KCNT1Ex11NM_020822.2:c.957C>Tp.Asp319= | p.D319=NM_001272003.1:c.822C>T, NM_020822.1:c.957C>T, NM_020822.2:c.957C>T, XM_005263407.1:c.957C>TLikely benign03/23/2021 
27KCNT1Ex11NM_020822.2:c.981G>Ap.Ser327= | p.S327=NM_001272003.1:c.846G>A, NM_020822.1:c.981G>A, NM_020822.2:c.981G>A, XM_005263407.1:c.981G>AVOUS05/18/2018
28KCNT1Ex11NM_020822.2:c.984G>Cp.Gln328His | p.Q328HNM_001272003.1:c.849G>C, NM_020822.1:c.984G>C, NM_020822.2:c.984G>C, XM_005263407.1:c.984G>CVOUS11/12/2019
29KCNT1Ex11NM_020822.2:c.985C>Tp.Leu329= | p.L329=NM_001272003.1:c.850C>T, NM_020822.1:c.985C>T, NM_020822.2:c.985C>T, XM_005263407.1:c.985C>TLikely benign01/21/2016 
30KCNT1Ex12NM_020822.2:c.1077_1078delAGNM_001272003.1:c.942_943delAG, NM_020822.1:c.1077_1078delAG, NM_020822.2:c.1077_1078delAG, XM_005263407.1:c.1077_1078delAGVOUS08/01/2016
31KCNT1Ex12NM_020822.2:c.1100G>Ap.Arg367His | p.R367HNM_001272003.1:c.965G>A, NM_020822.1:c.1100G>A, NM_020822.2:c.1100G>A, XM_005263407.1:c.1100G>AVOUS11/03/2020
32KCNT1Ex12NM_020822.2:c.1104G>Ap.Ala368= | p.A368=NM_001272003.1:c.969G>A, NM_020822.1:c.1104G>A, NM_020822.2:c.1104G>A, XM_005263407.1:c.1104G>ALikely benign07/21/2014 
33KCNT1Ex12NM_020822.2:c.1110G>Ap.Thr370= | p.T370=NM_001272003.1:c.975G>A, NM_020822.1:c.1110G>A, NM_020822.2:c.1110G>A, XM_005263407.1:c.1110G>AVOUS06/16/2017
34KCNT1Ex12NM_020822.2:c.1173C>Tp.Asn391= | p.N391=VOUS12/05/2019
35KCNT1Ex13NM_020822.2:c.1201-6C>TVOUS12/09/2020
36KCNT1Ex13NM_020822.2:c.1253G>Ap.Arg418Lys | p.R418KNM_001272003.1:c.1118G>A, NM_020822.1:c.1253G>A, NM_020822.2:c.1253G>A, XM_005263407.1:c.1253G>AVOUS02/12/2016
37KCNT1Ex13NM_020822.2:c.1283G>Ap.Arg428Gln | p.R428QNM_001272003.1:c.1148G>A, NM_020822.1:c.1283G>A, NM_020822.2:c.1283G>APathogenic10/30/2017 
38KCNT1Ex14NM_020822.2:c.1394C>Tp.Thr465Met | p.T465MNM_001272003.1:c.1259C>T, NM_020822.1:c.1394C>T, NM_020822.2:c.1394C>T, XM_005263407.1:c.1394C>TVOUS09/04/2014
39KCNT1Ex15NM_020822.2:c.1402-5G>AVOUS07/12/2019
40KCNT1Ex15NM_020822.2:c.1443C>Tp.Phe481= | p.F481=NM_001272003.1:c.1308C>T, NM_020822.1:c.1443C>T, NM_020822.2:c.1443C>T, XM_005263407.1:c.1443C>TVOUS10/23/2020
41KCNT1Ex16NM_020822.2:c.1511-5C>TNM_001272003.1:c.1376-5C>T, NM_020822.1:c.1511-5C>T, NM_020822.2:c.1511-5C>T, XM_005263407.1:c.1511-5C>TVOUS05/03/2017
42KCNT1Ex16NM_020822.2:c.1533G>Ap.Glu511= | p.E511=NM_001272003.1:c.1398G>A, NM_020822.1:c.1533G>A, NM_020822.2:c.1533G>A, XM_005263407.1:c.1533G>ABenign07/08/2015 
43KCNT1Ex17NM_020822.2:c.1620-15_1620-5dupCGCCCTGGCCCNM_001272003.1:c.1485-5_1485-4insCGCCCTGGCCC, NM_020822.1:c.1620-5_1620-4insCGCCCTGGCCC, NM_020822.2:c.1620-5_1620-4insCGCCCTGGCCC, XM_005263407.1:c.1620-5_1620-4insCGCCCTGGCCCVOUS09/04/2014
44KCNT1Ex17NM_020822.2:c.1628A>Gp.Gln543Arg | p.Q543RNM_001272003.1:c.1493A>G, NM_020822.1:c.1628A>G, NM_020822.2:c.1628A>G, XM_005263407.1:c.1628A>GLikely benign11/21/2016 
45KCNT1Ex17NM_020822.2:c.1717C>Tp.Arg573Cys | p.R573CNM_001272003.1:c.1582C>T, NM_020822.1:c.1717C>T, NM_020822.2:c.1717C>T, XM_005263407.1:c.1717C>TVOUS03/08/2017
46KCNT1Ex17NM_020822.2:c.1726G>Ap.Glu576Lys | p.E576KNM_001272003.1:c.1591G>A, NM_020822.1:c.1726G>A, NM_020822.2:c.1726G>A, XM_005263407.1:c.1726G>AVOUS03/14/2017
47KCNT1Ex17NM_020822.2:c.1749G>Ap.Ala583= | p.A583=NM_001272003.1:c.1614G>A, NM_020822.1:c.1749G>A, NM_020822.2:c.1749G>A, XM_005263407.1:c.1749G>ABenign09/04/2014 
48KCNT1Ex17NM_020822.2:c.1769+16A>GNM_001272003.1:c.1634+16A>G, NM_020822.1:c.1769+16A>G, NM_020822.2:c.1769+16A>G, XM_005263407.1:c.1769+16A>GBenign09/04/2014 
49KCNT1Ex18NM_020822.2:c.1899G>Ap.Ser633= | p.S633=NM_001272003.1:c.1764G>A, NM_020822.1:c.1899G>A, NM_020822.2:c.1899G>A, XM_005263407.1:c.1899G>AVOUS11/12/2014
50KCNT1Ex18NM_020822.2:c.1927C>Tp.Arg643Trp | p.R643WNM_001272003.1:c.1792C>T, NM_020822.1:c.1927C>T, NM_020822.2:c.1927C>T, XM_005263407.1:c.1927C>TVOUS09/08/2014
51KCNT1Ex18NM_020822.2:c.1995C>Tp.Ile665= | p.I665=NM_001272003.1:c.1860C>T, NM_020822.1:c.1995C>T, NM_020822.2:c.1995C>T, XM_005263407.1:c.1995C>TVOUS08/22/2017
52KCNT1Ex18NM_020822.2:c.2008+10G>CNM_001272003.1:c.1873+10G>C, NM_020822.1:c.2008+10G>C, NM_020822.2:c.2008+10G>C, XM_005263407.1:c.2008+10G>CLikely benign06/13/2019 
53KCNT1Ex19NM_020822.2:c.2034C>Tp.Gly678= | p.G678=NM_001272003.1:c.1899C>T, NM_020822.1:c.2034C>T, NM_020822.2:c.2034C>T, XM_005263407.1:c.2034C>TLikely benign03/23/2021 
54KCNT1Ex19NM_020822.2:c.2052G>Ap.Thr684= | p.T684=NM_001272003.1:c.1917G>A, NM_020822.1:c.2052G>A, NM_020822.2:c.2052G>A, XM_005263407.1:c.2052G>AVOUS01/23/2015
55KCNT1Ex19NM_020822.2:c.2070C>Tp.Gly690= | p.G690=NM_001272003.1:c.1935C>T, NM_020822.1:c.2070C>T, NM_020822.2:c.2070C>T, XM_005263407.1:c.2070C>TVOUS02/11/2021
56KCNT1Ex19NM_020822.2:c.2109G>Tp.Ser703= | p.S703=NM_001272003.1:c.1974G>T, NM_020822.1:c.2109G>T, NM_020822.2:c.2109G>T, XM_005263407.1:c.2109G>TVOUS02/27/2017
57KCNT1Ex19NM_020822.2:c.2142G>Ap.Leu714= | p.L714=NM_001272003.1:c.2007G>A, NM_020822.1:c.2142G>A, NM_020822.2:c.2142G>A, XM_005263407.1:c.2142G>AVOUS10/11/2016
58KCNT1Ex19NM_020822.2:c.2210C>Tp.Thr737Met | p.T737MNM_001272003.1:c.2075C>T, NM_020822.1:c.2210C>T, NM_020822.2:c.2210C>T, XM_005263407.1:c.2210C>TBenign06/30/2015 
59KCNT1Ex19NM_020822.2:c.2214G>Ap.Pro738= | p.P738=NM_001272003.1:c.2079G>A, NM_020822.1:c.2214G>A, NM_020822.2:c.2214G>A, XM_005263407.1:c.2214G>AVOUS12/12/2018
60KCNT1Ex19NM_020822.2:c.2217G>Ap.Ser739= | p.S739=NM_001272003.1:c.2082G>A, NM_020822.1:c.2217G>A, NM_020822.2:c.2217G>A, XM_005263407.1:c.2217G>AVOUS03/06/2015
61KCNT1Ex19NM_020822.2:c.2235C>Tp.Ser745= | p.S745=NM_001272003.1:c.2100C>T, NM_020822.1:c.2235C>T, NM_020822.2:c.2235C>T, XM_005263407.1:c.2235C>TLikely benign07/15/2014 
62KCNT1Ex21NM_020822.2:c.2376C>Tp.Asp792= | p.D792=NM_001272003.1:c.2241C>T, NM_020822.1:c.2376C>T, NM_020822.2:c.2376C>T, XM_005263407.1:c.2376C>TBenign05/15/2015 
63KCNT1Ex21NM_020822.2:c.2430C>Tp.Ala810= | p.A810=NM_001272003.1:c.2295C>T, NM_020822.1:c.2430C>T, NM_020822.2:c.2430C>T, XM_005263407.1:c.2430C>TBenign01/02/2015 
64KCNT1Ex22NM_020822.2:c.2543A>Gp.Glu848Gly | p.E848GNM_001272003.1:c.2408A>G, NM_020822.1:c.2543A>G, NM_020822.2:c.2543A>G, XM_005263407.1:c.2543A>GLikely benign02/20/2015 
65KCNT1Ex22NM_020822.2:c.2568C>Tp.Val856= | p.V856=NM_001272003.1:c.2433C>T, NM_020822.1:c.2568C>T, NM_020822.2:c.2568C>T, XM_005263407.1:c.2568C>TVOUS07/29/2019
66KCNT1Ex22NM_020822.2:c.2594+6G>ANM_001272003.1:c.2459+6G>A, NM_020822.1:c.2594+6G>A, NM_020822.2:c.2594+6G>A, XM_005263407.1:c.2594+6G>AVOUS06/14/2018
67KCNT1Ex23NM_020822.2:c.2605C>Gp.Leu869Val | p.L869VNM_001272003.1:c.2470C>G, NM_020822.1:c.2605C>G, NM_020822.2:c.2605C>G, XM_005263407.1:c.2605C>GVOUS08/24/2017
68KCNT1Ex23NM_020822.2:c.2641G>Tp.Val881Leu | p.V881LNM_001272003.1:c.2506G>T, NM_020822.1:c.2641G>T, NM_020822.2:c.2641G>T, XM_005263407.1:c.2641G>TVOUS08/17/2017
69KCNT1Ex23NM_020822.2:c.2729G>Ap.Arg910Gln | p.R910QNM_001272003.1:c.2594G>A, NM_020822.1:c.2729G>A, NM_020822.2:c.2729G>A, XM_005263407.1:c.2729G>ALikely benign04/15/2016 
70KCNT1Ex24NM_020822.2:c.2778C>Tp.Asn926= | p.N926=NM_001272003.1:c.2643C>T, NM_020822.1:c.2778C>T, NM_020822.2:c.2778C>T, XM_005263407.1:c.2778C>TVOUS04/17/2019
71KCNT1Ex25NM_020822.2:c.2849G>Ap.Arg950Gln | p.R950QNM_001272003.1:c.2714G>A, NM_020822.1:c.2849G>A, NM_020822.2:c.2849G>A, XM_005263407.1:c.2849G>AVOUS03/28/2016
72KCNT1Ex25NM_020822.2:c.2856T>Cp.Asn952= | p.N952=NM_001272003.1:c.2721T>C, NM_020822.1:c.2856T>C, NM_020822.2:c.2856T>C, XM_005263407.1:c.2856T>CVOUS07/14/2020
73KCNT1Ex25NM_020822.2:c.2882G>Ap.Arg961His | p.R961HNM_001272003.1:c.2747G>A, NM_020822.1:c.2882G>A, NM_020822.2:c.2882G>A, XM_005263407.1:c.2882G>AVOUS08/14/2018
74KCNT1Ex25NM_020822.2:c.2892C>Tp.Phe964= | p.F964=NM_001272003.1:c.2757C>T, NM_020822.1:c.2892C>T, NM_020822.2:c.2892C>T, XM_005263407.1:c.2892C>TBenign06/30/2015 
75KCNT1Ex25NM_020822.2:c.2913C>Tp.Ser971= | p.S971=NM_001272003.1:c.2778C>T, NM_020822.1:c.2913C>T, NM_020822.2:c.2913C>T, XM_005263407.1:c.2913C>TVOUS06/07/2017
76KCNT1Ex26NM_020822.2:c.2944-34_2944-7delCCCTCCCTCCCTCCCTCCCTCCCTCCCTNM_001272003.1:c.2809-34_2809-7delCCCTCCCTCCCTCCCTCCCTCCCTCCCT, NM_020822.1:c.2944-34_2944-7delCCCTCCCTCCCTCCCTCCCTCCCTCCCT, NM_020822.2:c.2944-34_2944-7delCCCTCCCTCCCTCCCTCCCTCCCTCCCT, XM_005263407.1:c.2944-34_2944-7delCCCTCCCTCCCTCCCTCCCTCCCTCCCTLikely benign06/13/2016 
77KCNT1Ex26NM_020822.2:c.2944-30_2944-7delCCCTCCCTCCCTCCCTCCCTCCCTNM_001272003.1:c.2809-30_2809-7delCCCTCCCTCCCTCCCTCCCTCCCT, NM_020822.1:c.2944-30_2944-7delCCCTCCCTCCCTCCCTCCCTCCCT, NM_020822.2:c.2944-30_2944-7delCCCTCCCTCCCTCCCTCCCTCCCT, XM_005263407.1:c.2944-30_2944-7delCCCTCCCTCCCTCCCTCCCTCCCTLikely benign06/13/2016 
78KCNT1Ex26NM_020822.2:c.2944-26_2944-7delCCCTCCCTCCCTCCCTCCCTNM_001272003.1:c.2809-26_2809-7delccctccctccctccctccct, NM_020822.1:c.2944-26_2944-7delccctccctccctccctccct, NM_020822.2:c.2944-26_2944-7delccctccctccctccctccct, XM_005263407.1:c.2944-26_2944-7delccctccctccctccctccctBenign02/26/2016 
79KCNT1Ex26NM_020822.2:c.2944-22_2944-7delCCCTCCCTCCCTCCCTNM_001272003.1:c.2809-22_2809-7delCCCTCCCTCCCTCCCT, NM_020822.1:c.2944-22_2944-7delCCCTCCCTCCCTCCCT, NM_020822.2:c.2944-22_2944-7delCCCTCCCTCCCTCCCT, XM_005263407.1:c.2944-22_2944-7delCCCTCCCTCCCTCCCTBenign04/05/2016 
80KCNT1Ex26NM_020822.2:c.2944-18_2944-7delCCCTCCCTCCCTNM_001272003.1:c.2809-18_2809-7delCCCTCCCTCCCT, NM_020822.1:c.2944-18_2944-7delCCCTCCCTCCCT, NM_020822.2:c.2944-18_2944-7delCCCTCCCTCCCT, XM_005263407.1:c.2944-18_2944-7delCCCTCCCTCCCTBenign04/05/2016 
81KCNT1Ex26NM_020822.2:c.2944-14_2944-7delCCCTCCCTNM_001272003.1:c.2809-14_2809-7delCCCTCCCT, NM_020822.1:c.2944-14_2944-7delCCCTCCCT, NM_020822.2:c.2944-14_2944-7delCCCTCCCT, XM_005263407.1:c.2944-14_2944-7delCCCTCCCTBenign01/31/2017 
82KCNT1Ex26NM_020822.2:c.2944-10_2944-7delCCCTNM_001272003.1:c.2809-10_2809-7delCCCT, NM_020822.1:c.2944-10_2944-7delCCCT, NM_020822.2:c.2944-10_2944-7delCCCT, XM_005263407.1:c.2944-10_2944-7delCCCTBenign03/03/2017 
83KCNT1Ex26NM_020822.2:c.2949C>Tp.Phe983= | p.F983=NM_001272003.1:c.2814C>T, NM_020822.1:c.2949C>T, NM_020822.2:c.2949C>T, XM_005263407.1:c.2949C>TVOUS08/16/2017
84KCNT1Ex26NM_020822.2:c.2957_2958insTNM_001272003.1:c.2822_2823insT, NM_020822.1:c.2957_2958insT, NM_020822.2:c.2957_2958insT, XM_005263407.1:c.2957_2958insTVOUS08/13/2015
85KCNT1Ex26NM_020822.2:c.2994G>Ap.Leu998= | p.L998=NM_001272003.1:c.2859G>A, NM_020822.1:c.2994G>A, NM_020822.2:c.2994G>A, XM_005263407.1:c.2994G>ALikely benign05/21/2015 
86KCNT1Ex26NM_020822.2:c.3027+12T>CNM_001272003.1:c.2892+12T>C, NM_020822.1:c.3027+12T>C, NM_020822.2:c.3027+12T>C, XM_005263407.1:c.3027+12T>CVOUS03/08/2016
87KCNT1Ex27NM_020822.2:c.3050T>Cp.Leu1017Pro | p.L1017PNM_001272003.1:c.2915T>C, NM_020822.1:c.3050T>C, NM_020822.2:c.3050T>C, XM_005263407.1:c.3050T>CVOUS08/29/2017
88KCNT1Ex27NM_020822.2:c.3072C>Tp.Arg1024= | p.R1024=NM_001272003.1:c.2937C>T, NM_020822.1:c.3072C>T, NM_020822.2:c.3072C>T, XM_005263407.1:c.3072C>TVOUS01/16/2018
89KCNT1Ex27NM_020822.2:c.3096C>Tp.Ser1032= | p.S1032=NM_001272003.1:c.2961C>T, NM_020822.1:c.3096C>T, NM_020822.2:c.3096C>T, XM_005263407.1:c.3096C>TVOUS11/03/2016
90KCNT1Ex27NM_020822.2:c.3153G>Ap.Ser1051= | p.S1051=NM_001272003.1:c.3018G>A, NM_020822.1:c.3153G>A, NM_020822.2:c.3153G>A, XM_005263407.1:c.3153G>AVOUS01/12/2017
91KCNT1Ex28NM_020822.2:c.3157-8C>TNM_001272003.1:c.3022-8C>T, NM_020822.1:c.3157-8C>T, NM_020822.2:c.3157-8C>T, XM_005263407.1:c.3157-8C>TLikely benign01/14/2016 
92KCNT1Ex29NM_020822.2:c.3178-12_3178-3dupTGCCCTGCCCNM_001272003.1:c.3043-12_3043-3dupTGCCCTGCCC, NM_020822.1:c.3178-12_3178-3dupTGCCCTGCCC, NM_020822.2:c.3178-12_3178-3dupTGCCCTGCCC, XM_005263407.1:c.3178-12_3178-3dupTGCCCTGCCCLikely benign08/01/2018 
93KCNT1Ex29NM_020822.2:c.3178-7_3178-3delTGCCCNM_001272003.1:c.3043-7_3043-3delTGCCC, NM_020822.1:c.3178-7_3178-3delTGCCC, NM_020822.2:c.3178-7_3178-3delTGCCC, XM_005263407.1:c.3178-7_3178-3delTGCCCBenign03/31/2016 
94KCNT1Ex29NM_020822.2:c.3178-7_3178-3dupTGCCCNM_001272003.1:c.3043-3_3043-2insTGCCC, NM_020822.1:c.3178-3_3178-2insTGCCC, NM_020822.2:c.3178-3_3178-2insTGCCC, XM_005263407.1:c.3178-3_3178-2insTGCCCBenign03/31/2016 
95KCNT1Ex29NM_020822.2:c.3239G>Tp.Gly1080Val | p.G1080VNM_001272003.1:c.3104G>T, NM_020822.1:c.3239G>T, NM_020822.2:c.3239G>T, XM_005263407.1:c.3239G>TBenign09/26/2017 
96KCNT1Ex29NM_020822.2:c.3241T>Cp.Ser1081Pro | p.S1081PNM_001272003.1:c.3106T>C, NM_020822.1:c.3241T>C, NM_020822.2:c.3241T>C, XM_005263407.1:c.3241T>CVOUS02/14/2019
97KCNT1Ex29NM_020822.2:c.3256G>Ap.Gly1086Arg | p.G1086RNM_001272003.1:c.3121G>A, NM_020822.1:c.3256G>A, NM_020822.2:c.3256G>A, XM_005263407.1:c.3256G>AVOUS01/26/2017
98KCNT1Ex29NM_020822.2:c.3281C>Tp.Thr1094Met | p.T1094MNM_001272003.1:c.3146C>T, NM_020822.1:c.3281C>T, NM_020822.2:c.3281C>T, XM_005263407.1:c.3281C>TVOUS04/14/2020
99KCNT1Ex29NM_020822.2:c.3295C>Tp.Pro1099Ser | p.P1099SNM_001272003.1:c.3160C>T, NM_020822.1:c.3295C>T, NM_020822.2:c.3295C>T, XM_005263407.1:c.3295C>TBenign08/07/2014 
100KCNT1Ex29NM_020822.2:c.3312G>Ap.Leu1104= | p.L1104=NM_001272003.1:c.3177G>A, NM_020822.1:c.3312G>A, NM_020822.2:c.3312G>A, XM_005263407.1:c.3312G>ABenign04/21/2015 
101KCNT1Ex29NM_020822.2:c.3316C>Ap.Arg1106= | p.R1106=NM_001272003.1:c.3181C>A, NM_020822.1:c.3316C>A, NM_020822.2:c.3316C>A, XM_005263407.1:c.3316C>AVOUS12/20/2018
102KCNT1Ex29NM_020822.2:c.3374G>Ap.Gly1125Asp | p.G1125DNM_001272003.1:c.3239G>A, NM_020822.1:c.3374G>A, NM_020822.2:c.3374G>A, XM_005263407.1:c.3374G>AVOUS07/28/2020
103KCNT1Ex29NM_020822.2:c.3388G>Ap.Ala1130Thr | p.A1130TNM_001272003.1:c.3253G>A, NM_020822.1:c.3388G>A, NM_020822.2:c.3388G>A, XM_005263407.1:c.3388G>ABenign07/17/2014 
104KCNT1Ex29NM_020822.2:c.3393G>Ap.Glu1131= | p.E1131=NM_001272003.1:c.3258G>A, NM_020822.1:c.3393G>A, NM_020822.2:c.3393G>A, XM_005263407.1:c.3393G>AVOUS12/17/2019
105KCNT1Ex29NM_020822.2:c.3437G>Ap.Arg1146His | p.R1146HNM_001272003.1:c.3302G>A, NM_020822.1:c.3437G>A, NM_020822.2:c.3437G>A, XM_005263407.1:c.3437G>AVOUS11/25/2019
106KCNT1Ex29NM_020822.2:c.3502+15G>ANM_001272003.1:c.3367+15G>A, NM_020822.1:c.3502+15G>A, NM_020822.2:c.3502+15G>A, XM_005263407.1:c.3502+15G>AVOUS05/18/2016
107KCNT1Ex29NM_020822.2:c.3502+16G>ANM_001272003.1:c.3367+16G>A, NM_020822.1:c.3502+16G>A, NM_020822.2:c.3502+16G>A, XM_005263407.1:c.3502+16G>ABenign11/03/2016 
108KCNT1Ex30NM_020822.2:c.3537C>Tp.Tyr1179= | p.Y1179=NM_001272003.1:c.3465C>T, NM_020822.1:c.3600C>T, NM_020822.2:c.3537C>T, XM_005263407.1:c.3600C>TVOUS05/21/2015
109KCNT1Ex30NM_020822.2:c.3575C>Tp.Pro1192Leu | p.P1192LNM_001272003.1:c.3503C>T, NM_020822.1:c.3638C>T, NM_020822.2:c.3575C>T, XM_005263407.1:c.3638C>TVOUS05/02/2017
110KCNT1Ex31NM_020822.2:c.3603C>Tp.Ser1201= | p.S1201=NM_001272003.1:c.3531C>T, NM_020822.1:c.3666C>T, NM_020822.2:c.3603C>T, XM_005263407.1:c.3666C>TVOUS05/13/2020
111KCNT1Ex31NM_020822.2:c.3606C>Tp.Asp1202= | p.D1202=NM_001272003.1:c.3534C>T, NM_020822.1:c.3669C>T, NM_020822.2:c.3606C>T, XM_005263407.1:c.3669C>TLikely benign02/10/2018 
112KCNT1Ex31NM_020822.2:c.3641G>Ap.Arg1214Gln | p.R1214QNM_001272003.1:c.3569G>A, NM_020822.1:c.3704G>A, NM_020822.2:c.3641G>A, XM_005263407.1:c.3704G>ALikely benign08/03/2016 
113KCNT1Ex31NM_020822.2:c.3690C>Tp.Arg1230= | p.R1230=NM_001272003.1:c.3618C>T, NM_020822.1:c.3753C>T, NM_020822.2:c.3690C>T, XM_005263407.1:c.3753C>TBenign08/12/2016 

* 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.