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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  
1SCN2AEx2NM_021007.2:c.24G>Ap.Pro8= | p.P8=NM_001040142.1:c.24G>A, NM_001040143.1:c.24G>A, NM_021007.2:c.24G>A, XM_005246750.1:c.24G>A, XM_005246751.1:c.24G>A, XM_005246752.1:c.24G>A, XM_005246753.1:c.24G>A, XM_005246754.1:c.27-33G>ABenign12/07/2017 
2SCN2AEx2NM_021007.2:c.70G>Ap.Ala24Thr | p.A24TNM_001040142.1:c.70G>A, NM_001040143.1:c.70G>A, NM_021007.2:c.70G>A, XM_005246750.1:c.70G>A, XM_005246751.1:c.70G>A, XM_005246752.1:c.70G>A, XM_005246753.1:c.70G>A, XM_005246754.1:c.40G>ALikely benign02/20/2020 
3SCN2AEx2NM_021007.2:c.82C>Tp.Arg28Cys | p.R28CNM_001040142.1:c.82C>T, NM_001040143.1:c.82C>T, NM_021007.2:c.82C>T, XM_005246750.1:c.82C>T, XM_005246751.1:c.82C>T, XM_005246752.1:c.82C>T, XM_005246753.1:c.82C>T, XM_005246754.1:c.52C>TVOUS01/04/2019
4SCN2AEx2NM_021007.2:c.100G>Ap.Ala34Thr | p.A34TNM_001040142.1:c.100G>A, NM_001040143.1:c.100G>A, NM_021007.2:c.100G>A, XM_005246750.1:c.100G>A, XM_005246751.1:c.100G>A, XM_005246752.1:c.100G>A, XM_005246753.1:c.100G>A, XM_005246754.1:c.70G>AVOUS02/26/2016
5SCN2AEx4NM_021007.2:c.387-10G>ANM_001040142.1:c.387-10G>A, NM_001040143.1:c.387-10G>A, NM_021007.2:c.387-10G>A, XM_005246750.1:c.387-10G>A, XM_005246751.1:c.387-10G>A, XM_005246752.1:c.387-10G>A, XM_005246753.1:c.387-10G>A, XM_005246754.1:c.357-10G>A, XM_005246755.1:c.-1013G>ABenign09/08/2014 
6SCN2AEx4NM_021007.2:c.476+1G>ANM_001040142.1:c.476+1G>A, NM_001040143.1:c.476+1G>A, NM_021007.2:c.476+1G>A, XM_005246750.1:c.476+1G>A, XM_005246751.1:c.476+1G>A, XM_005246752.1:c.476+1G>A, XM_005246753.1:c.476+1G>A, XM_005246754.1:c.446+1G>A, XM_005246755.1:c.-913G>APathogenic06/06/2019 
7SCN2AEx7NM_021007.2:c.916_918dupACTp.Thr306dup | p.T306dupNM_001040142.1:c.916_918dupACT, NM_001040143.1:c.916_918dupACT, NM_021007.2:c.916_918dupACT, XM_005246750.1:c.916_918dupACT, XM_005246751.1:c.916_918dupACT, XM_005246752.1:c.916_918dupACT, XM_005246753.1:c.916_918dupACT, XM_005246754.1:c.886_888dupACT, XM_005246755.1:c.163_165dupACTVOUS08/01/2018
8SCN2AEx7NM_021007.2:c.923A>Gp.Asn308Ser | p.N308SNM_001040142.1:c.923A>G, NM_001040143.1:c.923A>G, NM_021007.2:c.923A>G, XM_005246750.1:c.923A>G, XM_005246751.1:c.923A>G, XM_005246752.1:c.923A>G, XM_005246753.1:c.923A>G, XM_005246754.1:c.893A>G, XM_005246755.1:c.170A>GVOUS01/04/2019
9SCN2AEx7NM_021007.2:c.952G>Ap.Glu318Lys | p.E318KNM_001040142.1:c.952G>A, NM_001040143.1:c.952G>A, NM_021007.2:c.952G>A, XM_005246750.1:c.952G>A, XM_005246751.1:c.952G>A, XM_005246752.1:c.952G>A, XM_005246753.1:c.952G>A, XM_005246754.1:c.922G>A, XM_005246755.1:c.199G>AVOUS03/29/2021
10SCN2AEx7NM_021007.2:c.960T>Cp.Ile320= | p.I320=NM_001040142.1:c.960T>C, NM_001040143.1:c.960T>C, NM_021007.2:c.960T>C, XM_005246750.1:c.960T>C, XM_005246751.1:c.960T>C, XM_005246752.1:c.960T>C, XM_005246753.1:c.960T>C, XM_005246754.1:c.930T>C, XM_005246755.1:c.207T>CLikely benign08/02/2019 
11SCN2AEx10NM_021007.2:c.1178C>Ap.Thr393Lys | p.T393KNM_001040142.1:c.1178C>A, NM_001040143.1:c.1178C>A, NM_021007.2:c.1178C>A, XM_005246750.1:c.1178C>A, XM_005246751.1:c.1178C>A, XM_005246752.1:c.1178C>A, XM_005246753.1:c.1178C>A, XM_005246754.1:c.1148C>A, XM_005246755.1:c.425C>ALikely pathogenic04/01/2016 
12SCN2AEx10NM_021007.2:c.1376A>Cp.Glu459Ala | p.E459ANM_001040142.1:c.1376A>C, NM_001040143.1:c.1376A>C, NM_021007.2:c.1376A>C, XM_005246750.1:c.1376A>C, XM_005246751.1:c.1376A>C, XM_005246752.1:c.1376A>C, XM_005246753.1:c.1376A>C, XM_005246754.1:c.1346A>C, XM_005246755.1:c.623A>CVOUS08/02/2019
13SCN2AEx11NM_021007.2:c.1558A>Tp.Asn520Tyr | p.N520YNM_001040142.1:c.1558A>T, NM_001040143.1:c.1558A>T, NM_021007.2:c.1558A>T, XM_005246750.1:c.1558A>T, XM_005246751.1:c.1558A>T, XM_005246752.1:c.1558A>T, XM_005246753.1:c.1558A>T, XM_005246754.1:c.1528A>T, XM_005246755.1:c.805A>TVOUS09/22/2020
14SCN2AEx12NM_021007.2:c.1953T>Cp.Asn651= | p.N651=NM_001040142.1:c.1953T>C, NM_001040143.1:c.1953T>C, NM_021007.2:c.1953T>C, XM_005246750.1:c.1953T>C, XM_005246751.1:c.1953T>C, XM_005246752.1:c.1953T>C, XM_005246753.1:c.1953T>C, XM_005246754.1:c.1923T>C, XM_005246755.1:c.1200T>CVOUS03/17/2020
15SCN2AEx12NM_021007.2:c.1992A>Gp.Thr664= | p.T664=NM_001040142.1:c.1992A>G, NM_001040143.1:c.1992A>G, NM_021007.2:c.1992A>G, XM_005246750.1:c.1992A>G, XM_005246751.1:c.1992A>G, XM_005246752.1:c.1992A>G, XM_005246753.1:c.1992A>G, XM_005246754.1:c.1962A>G, XM_005246755.1:c.1239A>G, XM_005246756.1:c.-5116A>GVOUS02/04/2021
16SCN2AEx12NM_021007.2:c.2016+10A>GNM_001040142.1:c.2016+10A>G, NM_001040143.1:c.2016+10A>G, NM_021007.2:c.2016+10A>G, XM_005246750.1:c.2016+10A>G, XM_005246751.1:c.2016+10A>G, XM_005246752.1:c.2016+10A>G, XM_005246753.1:c.2016+10A>G, XM_005246754.1:c.1986+10A>G, XM_005246755.1:c.1263+10A>G, XM_005246756.1:c.-5082A>GVOUS10/20/2015
17SCN2AEx13NM_021007.2:c.2019C>Gp.Gly673= | p.G673=NM_001040142.1:c.2019C>G, NM_001040143.1:c.2019C>G, NM_021007.2:c.2019C>G, XM_005246750.1:c.2019C>G, XM_005246751.1:c.2019C>G, XM_005246752.1:c.2019C>G, XM_005246753.1:c.2019C>G, XM_005246754.1:c.1989C>G, XM_005246755.1:c.1266C>G, XM_005246756.1:c.-1738C>GVOUS08/28/2017
18SCN2AEx13NM_021007.2:c.2034A>Gp.Thr678= | p.T678=NM_001040142.1:c.2034A>G, NM_001040143.1:c.2034A>G, NM_021007.2:c.2034A>G, XM_005246750.1:c.2034A>G, XM_005246751.1:c.2034A>G, XM_005246752.1:c.2034A>G, XM_005246753.1:c.2034A>G, XM_005246754.1:c.2004A>G, XM_005246755.1:c.1281A>G, XM_005246756.1:c.-1723A>GBenign01/30/2015 
19SCN2AEx13NM_021007.2:c.2149+5G>ANM_001040142.1:c.2149+5G>A, NM_001040143.1:c.2149+5G>A, NM_021007.2:c.2149+5G>A, XM_005246750.1:c.2149+5G>A, XM_005246751.1:c.2149+5G>A, XM_005246752.1:c.2149+5G>A, XM_005246753.1:c.2149+5G>A, XM_005246754.1:c.2119+5G>A, XM_005246755.1:c.1396+5G>A, XM_005246756.1:c.-1603G>AVOUS01/31/2019
20SCN2AEx14NM_021007.2:c.2150-9T>CVOUS08/26/2020
21SCN2AEx15NM_021007.2:c.2558G>Ap.Arg853Gln | p.R853QNM_001040142.1:c.2558G>A, NM_001040143.1:c.2558G>A, NM_021007.2:c.2558G>A, XM_005246750.1:c.2558G>A, XM_005246751.1:c.2558G>A, XM_005246752.1:c.2558G>A, XM_005246753.1:c.2558G>A, XM_005246754.1:c.2528G>A, XM_005246755.1:c.1805G>A, XM_005246756.1:c.356G>APathogenic03/18/2015 
22SCN2AEx16NM_021007.2:c.2631T>Cp.Ser877= | p.S877=NM_001040142.1:c.2631T>C, NM_001040143.1:c.2631T>C, NM_021007.2:c.2631T>C, XM_005246750.1:c.2631T>C, XM_005246751.1:c.2631T>C, XM_005246752.1:c.2631T>C, XM_005246753.1:c.2631T>C, XM_005246754.1:c.2601T>C, XM_005246755.1:c.1878T>C, XM_005246756.1:c.429T>CVOUS07/28/2017
23SCN2AEx16NM_021007.2:c.2653A>Cp.Thr885Pro | p.T885PNM_001040142.1:c.2653A>C, NM_001040143.1:c.2653A>C, NM_021007.2:c.2653A>C, XM_005246750.1:c.2653A>C, XM_005246751.1:c.2653A>C, XM_005246752.1:c.2653A>C, XM_005246753.1:c.2653A>C, XM_005246754.1:c.2623A>C, XM_005246755.1:c.1900A>C, XM_005246756.1:c.451A>CVOUS02/13/2019
24SCN2AEx16NM_021007.2:c.2673C>Tp.Ile891= | p.I891=NM_001040142.1:c.2673C>T, NM_001040143.1:c.2673C>T, NM_021007.2:c.2673C>T, XM_005246750.1:c.2673C>T, XM_005246751.1:c.2673C>T, XM_005246752.1:c.2673C>T, XM_005246753.1:c.2673C>T, XM_005246754.1:c.2643C>T, XM_005246755.1:c.1920C>T, XM_005246756.1:c.471C>TVOUS06/23/2016
25SCN2AEx16NM_021007.2:c.2713A>Gp.Lys905Glu | p.K905ENM_001040142.1:c.2713A>G, NM_001040143.1:c.2713A>G, NM_021007.2:c.2713A>G, XM_005246750.1:c.2713A>G, XM_005246751.1:c.2713A>G, XM_005246752.1:c.2713A>G, XM_005246753.1:c.2713A>G, XM_005246754.1:c.2683A>G, XM_005246755.1:c.1960A>G, XM_005246756.1:c.511A>GLikely pathogenic06/29/2017 
26SCN2AEx16NM_021007.2:c.2723A>Gp.Lys908Arg | p.K908RNM_001040142.1:c.2723A>G, NM_001040143.1:c.2723A>G, NM_021007.2:c.2723A>G, XM_005246750.1:c.2723A>G, XM_005246751.1:c.2723A>G, XM_005246752.1:c.2723A>G, XM_005246753.1:c.2723A>G, XM_005246754.1:c.2693A>G, XM_005246755.1:c.1970A>G, XM_005246756.1:c.521A>GBenign11/16/2015 
27SCN2AEx16NM_021007.2:c.2774T>Cp.Met925Thr | p.M925TNM_001040142.1:c.2774T>C, NM_001040143.1:c.2774T>C, NM_021007.2:c.2774T>C, XM_005246750.1:c.2774T>C, XM_005246751.1:c.2774T>C, XM_005246752.1:c.2774T>C, XM_005246753.1:c.2774T>C, XM_005246754.1:c.2744T>C, XM_005246755.1:c.2021T>C, XM_005246756.1:c.572T>CPathogenic02/07/2020 
28SCN2AEx16NM_021007.2:c.2802C>Tp.Ile934= | p.I934=NM_001040142.1:c.2802C>T, NM_001040143.1:c.2802C>T, NM_021007.2:c.2802C>T, XM_005246750.1:c.2802C>T, XM_005246751.1:c.2802C>T, XM_005246752.1:c.2802C>T, XM_005246753.1:c.2802C>T, XM_005246754.1:c.2772C>T, XM_005246755.1:c.2049C>T, XM_005246756.1:c.600C>TVOUS03/22/2021
29SCN2AEx17NM_021007.2:c.3048T>Cp.Phe1016= | p.F1016=NM_001040142.1:c.3048T>C, NM_001040143.1:c.3048T>C, NM_021007.2:c.3048T>C, XM_005246750.1:c.3048T>C, XM_005246751.1:c.3048T>C, XM_005246752.1:c.3048T>C, XM_005246753.1:c.3048T>C, XM_005246754.1:c.3018T>C, XM_005246755.1:c.2295T>C, XM_005246756.1:c.846T>CVOUS08/21/2020
30SCN2AEx17NM_021007.2:c.3210C>Tp.Asp1070= | p.D1070=NM_001040142.1:c.3210C>T, NM_001040143.1:c.3210C>T, NM_021007.2:c.3210C>T, XM_005246750.1:c.3210C>T, XM_005246751.1:c.3210C>T, XM_005246752.1:c.3210C>T, XM_005246753.1:c.3210C>T, XM_005246754.1:c.3180C>T, XM_005246755.1:c.2457C>T, XM_005246756.1:c.1008C>TVOUS02/12/2016
31SCN2AEx17NM_021007.2:c.3315A>Gp.Val1105= | p.V1105=NM_001040142.1:c.3315A>G, NM_001040143.1:c.3315A>G, NM_021007.2:c.3315A>G, XM_005246750.1:c.3315A>G, XM_005246751.1:c.3315A>G, XM_005246752.1:c.3315A>G, XM_005246753.1:c.3315A>G, XM_005246754.1:c.3285A>G, XM_005246755.1:c.2562A>G, XM_005246756.1:c.1113A>GVOUS07/12/2019
32SCN2AEx18NM_021007.2:c.3453C>Tp.Pro1151= | p.P1151=NM_001040142.1:c.3453C>T, NM_001040143.1:c.3453C>T, NM_021007.2:c.3453C>T, XM_005246750.1:c.3453C>T, XM_005246751.1:c.3453C>T, XM_005246752.1:c.3453C>T, XM_005246753.1:c.3453C>T, XM_005246754.1:c.3423C>T, XM_005246755.1:c.2700C>T, XM_005246756.1:c.1251C>TBenign01/07/2016 
33SCN2AEx18NM_021007.2:c.3456C>Tp.Ala1152= | p.A1152=NM_001040142.1:c.3456C>T, NM_001040143.1:c.3456C>T, NM_021007.2:c.3456C>T, XM_005246750.1:c.3456C>T, XM_005246751.1:c.3456C>T, XM_005246752.1:c.3456C>T, XM_005246753.1:c.3456C>T, XM_005246754.1:c.3426C>T, XM_005246755.1:c.2703C>T, XM_005246756.1:c.1254C>TVOUS10/13/2015
34SCN2AEx18NM_021007.2:c.3457G>Ap.Glu1153Lys | p.E1153KNM_001040142.1:c.3457G>A, NM_001040143.1:c.3457G>A, NM_021007.2:c.3457G>A, XM_005246750.1:c.3457G>A, XM_005246751.1:c.3457G>A, XM_005246752.1:c.3457G>A, XM_005246753.1:c.3457G>A, XM_005246754.1:c.3427G>A, XM_005246755.1:c.2704G>A, XM_005246756.1:c.1255G>AVOUS03/28/2016
35SCN2AEx18NM_021007.2:c.3458A>Tp.Glu1153Val | p.E1153VNM_001040142.1:c.3458A>T, NM_001040143.1:c.3458A>T, NM_021007.2:c.3458A>T, XM_005246750.1:c.3458A>T, XM_005246751.1:c.3458A>T, XM_005246752.1:c.3458A>T, XM_005246753.1:c.3458A>T, XM_005246754.1:c.3428A>T, XM_005246755.1:c.2705A>T, XM_005246756.1:c.1256A>TVOUS10/07/2019
36SCN2AEx19NM_021007.2:c.3547C>Gp.Gln1183Glu | p.Q1183ENM_001040142.1:c.3547C>G, NM_001040143.1:c.3547C>G, NM_021007.2:c.3547C>G, XM_005246750.1:c.3547C>G, XM_005246751.1:c.3547C>G, XM_005246752.1:c.3547C>G, XM_005246753.1:c.3547C>G, XM_005246754.1:c.3517C>G, XM_005246755.1:c.2794C>G, XM_005246756.1:c.1345C>GVOUS07/09/2016
37SCN2AEx19NM_021007.2:c.3579C>Ap.Leu1193= | p.L1193=NM_001040142.1:c.3579C>A, NM_001040143.1:c.3579C>A, NM_021007.2:c.3579C>A, XM_005246750.1:c.3579C>A, XM_005246751.1:c.3579C>A, XM_005246752.1:c.3579C>A, XM_005246753.1:c.3579C>A, XM_005246754.1:c.3549C>A, XM_005246755.1:c.2826C>A, XM_005246756.1:c.1377C>AVOUS10/04/2016
38SCN2AEx20NM_021007.2:c.3788C>Tp.Ala1263Val | p.A1263VNM_001040142.1:c.3788C>T, NM_001040143.1:c.3788C>T, NM_021007.2:c.3788C>T, XM_005246750.1:c.3788C>T, XM_005246751.1:c.3788C>T, XM_005246752.1:c.3788C>T, XM_005246753.1:c.3788C>T, XM_005246754.1:c.3758C>T, XM_005246755.1:c.3035C>T, XM_005246756.1:c.1586C>TVOUS04/09/2018
39SCN2AEx21NM_021007.2:c.3855A>Cp.Ser1285= | p.S1285=NM_001040142.1:c.3855A>C, NM_001040143.1:c.3855A>C, NM_021007.2:c.3855A>C, XM_005246750.1:c.3855A>C, XM_005246751.1:c.3855A>C, XM_005246752.1:c.3855A>C, XM_005246753.1:c.3855A>C, XM_005246754.1:c.3825A>C, XM_005246755.1:c.3102A>C, XM_005246756.1:c.1653A>CVOUS11/25/2019
40SCN2AEx21NM_021007.2:c.3956G>Ap.Arg1319Gln | p.R1319QNM_001040142.1:c.3956G>A, NM_001040143.1:c.3956G>A, NM_021007.2:c.3956G>A, XM_005246750.1:c.3956G>A, XM_005246751.1:c.3956G>A, XM_005246752.1:c.3956G>A, XM_005246753.1:c.3956G>A, XM_005246754.1:c.3926G>A, XM_005246755.1:c.3203G>A, XM_005246756.1:c.1754G>APathogenic02/26/2019 
41SCN2AEx22NM_021007.2:c.4156T>Gp.Cys1386Gly | p.C1386GNM_001040142.1:c.4156T>G, NM_001040143.1:c.4156T>G, NM_021007.2:c.4156T>G, XM_005246750.1:c.4156T>G, XM_005246751.1:c.4156T>G, XM_005246752.1:c.4156T>G, XM_005246753.1:c.4156T>G, XM_005246754.1:c.4126T>G, XM_005246755.1:c.3403T>G, XM_005246756.1:c.1954T>GVOUS12/20/2017
42SCN2AEx23NM_021007.2:c.4257C>Tp.Ala1419= | p.A1419=NM_001040142.1:c.4257C>T, NM_001040143.1:c.4257C>T, NM_021007.2:c.4257C>T, XM_005246750.1:c.4257C>T, XM_005246751.1:c.4257C>T, XM_005246752.1:c.4257C>T, XM_005246753.1:c.4257C>T, XM_005246754.1:c.4227C>T, XM_005246755.1:c.3504C>T, XM_005246756.1:c.2055C>TVOUS07/08/2015
43SCN2AEx25NM_021007.2:c.4483A>Gp.Lys1495Glu | p.K1495ENM_001040142.1:c.4483A>G, NM_001040143.1:c.4483A>G, NM_021007.2:c.4483A>G, XM_005246750.1:c.4483A>G, XM_005246751.1:c.4483A>G, XM_005246752.1:c.4483A>G, XM_005246753.1:c.4483A>G, XM_005246754.1:c.4453A>G, XM_005246755.1:c.3730A>G, XM_005246756.1:c.2281A>GVOUS05/06/2019
44SCN2AEx26NM_021007.2:c.4565G>Cp.Gly1522Ala | p.G1522ANM_001040142.1:c.4565G>C, NM_001040143.1:c.4565G>C, NM_021007.2:c.4565G>C, XM_005246750.1:c.4565G>C, XM_005246751.1:c.4565G>C, XM_005246752.1:c.4565G>C, XM_005246753.1:c.4565G>C, XM_005246754.1:c.4535G>C, XM_005246755.1:c.3812G>C, XM_005246756.1:c.2363G>CVOUS10/29/2014
45SCN2AEx26NM_021007.2:c.4644G>Cp.Met1548Ile | p.M1548INM_001040142.1:c.4644G>C, NM_001040143.1:c.4644G>C, NM_021007.2:c.4644G>C, XM_005246750.1:c.4644G>C, XM_005246751.1:c.4644G>C, XM_005246752.1:c.4644G>C, XM_005246753.1:c.4644G>C, XM_005246754.1:c.4614G>C, XM_005246755.1:c.3891G>C, XM_005246756.1:c.2442G>CVOUS06/28/2019
46SCN2AEx27NM_021007.2:c.4860G>Ap.Val1620= | p.V1620=NM_001040142.1:c.4860G>A, NM_001040143.1:c.4860G>A, NM_021007.2:c.4860G>A, XM_005246750.1:c.4860G>A, XM_005246751.1:c.4860G>A, XM_005246752.1:c.4860G>A, XM_005246753.1:c.4860G>A, XM_005246754.1:c.4830G>A, XM_005246755.1:c.4107G>A, XM_005246756.1:c.2658G>AVOUS10/14/2019
47SCN2AEx27NM_021007.2:c.4976C>Tp.Ala1659Val | p.A1659VNM_001040142.1:c.4976C>T, NM_001040143.1:c.4976C>T, NM_021007.2:c.4976C>T, XM_005246750.1:c.4976C>T, XM_005246751.1:c.4976C>T, XM_005246752.1:c.4976C>T, XM_005246753.1:c.4976C>T, XM_005246754.1:c.4946C>T, XM_005246755.1:c.4223C>T, XM_005246756.1:c.2774C>TLikely pathogenic06/13/2019 
48SCN2AEx27NM_021007.2:c.5004C>Tp.Phe1668= | p.F1668=NM_001040142.1:c.5004C>T, NM_001040143.1:c.5004C>T, NM_021007.2:c.5004C>T, XM_005246750.1:c.5004C>T, XM_005246751.1:c.5004C>T, XM_005246752.1:c.5004C>T, XM_005246753.1:c.5004C>T, XM_005246754.1:c.4974C>T, XM_005246755.1:c.4251C>T, XM_005246756.1:c.2802C>TVOUS08/17/2016
49SCN2AEx27NM_021007.2:c.5121G>Ap.Leu1707= | p.L1707=NM_001040142.1:c.5121G>A, NM_001040143.1:c.5121G>A, NM_021007.2:c.5121G>A, XM_005246750.1:c.5121G>A, XM_005246751.1:c.5121G>A, XM_005246752.1:c.5121G>A, XM_005246753.1:c.5121G>A, XM_005246754.1:c.5091G>A, XM_005246755.1:c.4368G>A, XM_005246756.1:c.2919G>AVOUS08/01/2018
50SCN2AEx27NM_021007.2:c.5229A>Gp.Lys1743= | p.K1743=NM_001040142.1:c.5229A>G, NM_001040143.1:c.5229A>G, NM_021007.2:c.5229A>G, XM_005246750.1:c.5229A>G, XM_005246751.1:c.5229A>G, XM_005246752.1:c.5229A>G, XM_005246753.1:c.5229A>G, XM_005246754.1:c.5199A>G, XM_005246755.1:c.4476A>G, XM_005246756.1:c.3027A>GLikely benign05/21/2015 
51SCN2AEx27NM_021007.2:c.5326C>Tp.Leu1776= | p.L1776=NM_001040142.1:c.5326C>T, NM_001040143.1:c.5326C>T, NM_021007.2:c.5326C>T, XM_005246750.1:c.5326C>T, XM_005246751.1:c.5326C>T, XM_005246752.1:c.5326C>T, XM_005246753.1:c.5326C>T, XM_005246754.1:c.5296C>T, XM_005246755.1:c.4573C>T, XM_005246756.1:c.3124C>TBenign09/06/2016 
52SCN2AEx27NM_021007.2:c.5397T>Cp.Tyr1799= | p.Y1799=NM_001040142.1:c.5397T>C, NM_001040143.1:c.5397T>C, NM_021007.2:c.5397T>C, XM_005246750.1:c.5397T>C, XM_005246751.1:c.5397T>C, XM_005246752.1:c.5397T>C, XM_005246753.1:c.5397T>C, XM_005246754.1:c.5367T>C, XM_005246755.1:c.4644T>C, XM_005246756.1:c.3195T>CVOUS12/08/2020
53SCN2AEx27NM_021007.2:c.5427G>Ap.Ala1809= | p.A1809=NM_001040142.1:c.5427G>A, NM_001040143.1:c.5427G>A, NM_021007.2:c.5427G>A, XM_005246750.1:c.5427G>A, XM_005246751.1:c.5427G>A, XM_005246752.1:c.5427G>A, XM_005246753.1:c.5427G>A, XM_005246754.1:c.5397G>A, XM_005246755.1:c.4674G>A, XM_005246756.1:c.3225G>AVOUS08/30/2018
54SCN2AEx27NM_021007.2:c.5505C>Tp.Asn1835= | p.N1835=NM_001040142.1:c.5505C>T, NM_001040143.1:c.5505C>T, NM_021007.2:c.5505C>T, XM_005246750.1:c.5505C>T, XM_005246751.1:c.5505C>T, XM_005246752.1:c.5505C>T, XM_005246753.1:c.5505C>T, XM_005246754.1:c.5475C>T, XM_005246755.1:c.4752C>T, XM_005246756.1:c.3303C>TVOUS01/16/2015
55SCN2AEx27NM_021007.2:c.5560T>Gp.Cys1854Gly | p.C1854GNM_001040142.1:c.5560T>G, NM_001040143.1:c.5560T>G, NM_021007.2:c.5560T>G, XM_005246750.1:c.5560T>G, XM_005246751.1:c.5560T>G, XM_005246752.1:c.5560T>G, XM_005246753.1:c.5560T>G, XM_005246754.1:c.5530T>G, XM_005246755.1:c.4807T>G, XM_005246756.1:c.3358T>GVOUS11/21/2018
56SCN2AEx27NM_021007.2:c.5574A>Gp.Leu1858= | p.L1858=NM_001040142.1:c.5574A>G, NM_001040143.1:c.5574A>G, NM_021007.2:c.5574A>G, XM_005246750.1:c.5574A>G, XM_005246751.1:c.5574A>G, XM_005246752.1:c.5574A>G, XM_005246753.1:c.5574A>G, XM_005246754.1:c.5544A>G, XM_005246755.1:c.4821A>G, XM_005246756.1:c.3372A>GVOUS12/15/2016
57SCN2AEx27NM_021007.2:c.5579C>Tp.Ala1860Val | p.A1860VNM_001040142.1:c.5579C>T, NM_001040143.1:c.5579C>T, NM_021007.2:c.5579C>T, XM_005246750.1:c.5579C>T, XM_005246751.1:c.5579C>T, XM_005246752.1:c.5579C>T, XM_005246753.1:c.5579C>T, XM_005246754.1:c.5549C>T, XM_005246755.1:c.4826C>T, XM_005246756.1:c.3377C>TVOUS03/28/2019
58SCN2AEx27NM_021007.2:c.5644C>Gp.Arg1882Gly | p.R1882GNM_001040142.1:c.5644C>G, NM_001040143.1:c.5644C>G, NM_021007.2:c.5644C>G, XM_005246750.1:c.5644C>G, XM_005246751.1:c.5644C>G, XM_005246752.1:c.5644C>G, XM_005246753.1:c.5644C>G, XM_005246754.1:c.5614C>G, XM_005246755.1:c.4891C>G, XM_005246756.1:c.3442C>GPathogenic10/22/2019 
59SCN2AEx27NM_021007.2:c.5645G>Ap.Arg1882Gln | p.R1882QNM_001040142.1:c.5645G>A, NM_001040143.1:c.5645G>A, NM_021007.2:c.5645G>A, XM_005246750.1:c.5645G>A, XM_005246751.1:c.5645G>A, XM_005246752.1:c.5645G>A, XM_005246753.1:c.5645G>A, XM_005246754.1:c.5615G>A, XM_005246755.1:c.4892G>A, XM_005246756.1:c.3443G>ALikely pathogenic09/08/2014 
60SCN2AEx27NM_021007.2:c.5724T>Cp.Ser1908= | p.S1908=NM_001040142.1:c.5724T>C, NM_001040143.1:c.5724T>C, NM_021007.2:c.5724T>C, XM_005246750.1:c.5724T>C, XM_005246751.1:c.5724T>C, XM_005246752.1:c.5724T>C, XM_005246753.1:c.5724T>C, XM_005246754.1:c.5694T>C, XM_005246755.1:c.4971T>C, XM_005246756.1:c.3522T>CVOUS10/24/2018
61SCN2AEx27NM_021007.2:c.5752C>Tp.Arg1918Cys | p.R1918CNM_001040142.1:c.5752C>T, NM_001040143.1:c.5752C>T, NM_021007.2:c.5752C>T, XM_005246750.1:c.5752C>T, XM_005246751.1:c.5752C>T, XM_005246752.1:c.5752C>T, XM_005246753.1:c.5752C>T, XM_005246754.1:c.5722C>T, XM_005246755.1:c.4999C>T, XM_005246756.1:c.3550C>TVOUS08/10/2015
62SCN2AEx27NM_021007.2:c.5773G>Ap.Val1925Ile | p.V1925INM_001040142.1:c.5773G>A, NM_001040143.1:c.5773G>A, NM_021007.2:c.5773G>A, XM_005246750.1:c.5773G>A, XM_005246751.1:c.5773G>A, XM_005246752.1:c.5773G>A, XM_005246753.1:c.5773G>A, XM_005246754.1:c.5743G>A, XM_005246755.1:c.5020G>A, XM_005246756.1:c.3571G>AVOUS08/16/2018
63SCN2AEx27NM_021007.2:c.5873C>Ap.Ser1958* | p.S1958XNM_001040142.1:c.5873C>A, NM_001040143.1:c.5873C>A, NM_021007.2:c.5873C>A, XM_005246750.1:c.5873C>A, XM_005246751.1:c.5873C>A, XM_005246752.1:c.5873C>A, XM_005246753.1:c.5873C>A, XM_005246754.1:c.5843C>A, XM_005246755.1:c.5120C>A, XM_005246756.1:c.3671C>AVOUS04/10/2018

* 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.