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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  
1SCN1AEx1NM_001165963.1:c.6G>Tp.Glu2Asp | p.E2DLRG_8t1:c.6G>T, NM_001165963.1:c.6G>T, NM_001165964.1:c.6G>T, NM_001202435.1:c.6G>T, NM_006920.4:c.6G>TVOUS12/20/2014
2SCN1AEx1NM_001165963.1:c.68C>Tp.Ala23Val | p.A23VLRG_8t1:c.68C>T, NM_001165963.1:c.68C>T, NM_001165964.1:c.68C>T, NM_001202435.1:c.68C>T, NM_006920.4:c.68C>TLikely benign11/11/2019 
3SCN1AEx1NM_001165963.1:c.80G>Cp.Arg27Thr | p.R27TLRG_8t1:c.80G>C, NM_001165963.1:c.80G>C, NM_001165964.1:c.80G>C, NM_001202435.1:c.80G>C, NM_006920.4:c.80G>CVOUS04/07/2020
4SCN1AEx1NM_001165963.1:c.83G>Ap.Arg28His | p.R28HLRG_8t1:c.83G>A, NM_001165963.1:c.83G>A, NM_001165964.1:c.83G>A, NM_001202435.1:c.83G>A, NM_006920.4:c.83G>AVOUS06/26/2013
5SCN1AEx1NM_001165963.1:c.90A>Gp.Ala30= | p.A30=LRG_8t1:c.90A>G, NM_001165963.1:c.90A>G, NM_001165964.1:c.90A>G, NM_001202435.1:c.90A>G, NM_006920.4:c.90A>GVOUS02/09/2018
6SCN1AEx1NM_001165963.1:c.134A>Gp.Asp45Gly | p.D45GLRG_8t1:c.134A>G, NM_001165963.1:c.134A>G, NM_001165964.1:c.134A>G, NM_001202435.1:c.134A>G, NM_006920.4:c.134A>GVOUS09/19/2017
7SCN1AEx1NM_001165963.1:c.135C>Tp.Asp45= | p.D45=LRG_8t1:c.135C>T, NM_001165963.1:c.135C>T, NM_001165964.1:c.135C>T, NM_001202435.1:c.135C>T, NM_006920.4:c.135C>TVOUS10/04/2016
8SCN1AEx1NM_001165963.1:c.136G>Ap.Glu46Lys | p.E46KLRG_8t1:c.136G>A, NM_001165963.1:c.136G>A, NM_001165964.1:c.136G>A, NM_001202435.1:c.136G>A, NM_006920.4:c.136G>AVOUS09/20/2018
9SCN1AEx1NM_001165963.1:c.144C>Tp.Gly48= | p.G48=LRG_8t1:c.144C>T, NM_001165963.1:c.144C>T, NM_001165964.1:c.144C>T, NM_001202435.1:c.144C>T, NM_006920.4:c.144C>TVOUS03/31/2016
10SCN1AEx2NM_001165963.1:c.269T>Cp.Phe90Ser | p.F90SNM_001165963.1:c.269T>C, NM_001165964.1:c.269T>C, NM_001202435.1:c.269T>C, NM_006920.4:c.269T>CLikely pathogenic07/15/2015 
11SCN1AEx2NM_001165963.1:c.301C>Tp.Arg101Trp | p.R101WLRG_8t1:c.301C>T, NM_001165963.1:c.301C>T, NM_001165964.1:c.301C>T, NM_001202435.1:c.301C>T, NM_006920.4:c.301C>TPathogenic08/31/2016 
12SCN1AEx2NM_001165963.1:c.302G>Ap.Arg101Gln | p.R101QLRG_8t1:c.302G>A, NM_001165963.1:c.302G>A, NM_001165964.1:c.302G>A, NM_001202435.1:c.302G>A, NM_006920.4:c.302G>APathogenic09/11/2015 
13SCN1AEx2NM_001165963.1:c.345T>Cp.Asn115= | p.N115=LRG_8t1:c.345T>C, NM_001165963.1:c.345T>C, NM_001165964.1:c.345T>C, NM_001202435.1:c.345T>C, NM_006920.4:c.345T>CBenign03/15/2019 
14SCN1AEx2NM_001165963.1:c.365T>Cp.Ile122Thr | p.I122TLRG_8t1:c.365T>C, NM_001165963.1:c.365T>C, NM_001165964.1:c.365T>C, NM_001202435.1:c.365T>C, NM_006920.4:c.365T>CVOUS12/18/2018
15SCN1AEx2NM_001165963.1:c.379C>Gp.His127Asp | p.H127DLRG_8t1:c.379C>G, NM_001165963.1:c.379C>G, NM_001165964.1:c.379C>G, NM_001202435.1:c.379C>G, NM_006920.4:c.379C>GVOUS03/12/2015
16SCN1AEx3NM_001165963.1:c.384-20G>CNM_001165963.1:c.384-20G>C, NM_001165964.1:c.384-20G>C, NM_001202435.1:c.384-20G>C, NM_006920.4:c.384-20G>CBenign05/13/2013 
17SCN1AEx4NM_001165963.1:c.579C>Tp.Leu193= | p.L193=LRG_8t1:c.579C>T, NM_001165963.1:c.579C>T, NM_001165964.1:c.579C>T, NM_001202435.1:c.579C>T, NM_006920.4:c.579C>TVOUS08/16/2018
18SCN1AEx4NM_001165963.1:c.597A>Gp.Thr199= | p.T199=LRG_8t1:c.597A>G, NM_001165963.1:c.597A>G, NM_001165964.1:c.597A>G, NM_001202435.1:c.597A>G, NM_006920.4:c.597A>GVOUS04/12/2016
19SCN1AEx4NM_001165963.1:c.602+1G>ANM_001165963.1:c.602+1G>A, NM_001165964.1:c.602+1G>A, NM_001202435.1:c.602+1G>A, NM_006920.4:c.602+1G>APathogenic05/01/2015 
20SCN1AEx4NM_001165963.1:c.602+7G>AVOUS07/24/2019
21SCN1AEx5NM_001165963.1:c.638C>Gp.Ser213Trp | p.S213WLRG_8t1:c.638C>G, NM_001165963.1:c.638C>G, NM_001165964.1:c.638C>G, NM_001202435.1:c.638C>G, NM_006920.4:c.638C>GVOUS07/02/2014
22SCN1AEx5NM_001165963.1:c.657A>Cp.Arg219Ser | p.R219SLRG_8t1:c.657A>C, NM_001165963.1:c.657A>C, NM_001165964.1:c.657A>C, NM_001202435.1:c.657A>C, NM_006920.4:c.657A>CVOUS03/17/2014
23SCN1AEx5NM_001165963.1:c.664C>Tp.Arg222* | p.R222XLRG_8t1:c.664C>T, NM_001165963.1:c.664C>T, NM_001165964.1:c.664C>T, NM_001202435.1:c.664C>T, NM_006920.4:c.664C>TPathogenic05/03/2016 
24SCN1AEx5NM_001165963.1:c.694+5G>CLRG_8t1:c.694+5G>C, NM_001165963.1:c.694+5G>C, NM_001165964.1:c.694+5G>C, NM_001202435.1:c.694+5G>C, NM_006920.4:c.694+5G>CVOUS09/28/2017
25SCN1AEx5NM_001165963.1:c.694+10A>GLRG_8t1:c.694+10A>G, NM_001165963.1:c.694+10A>G, NM_001165964.1:c.694+10A>G, NM_001202435.1:c.694+10A>G, NM_006920.4:c.694+10A>GVOUS01/15/2019
26SCN1AEx6NM_001165963.1:c.695-18T>CVOUS**
27SCN1AEx6NM_001165963.1:c.765_771delGTTCTGTPathogenic** 
28SCN1AEx6NM_001165963.1:c.791T>Cp.Ile264Thr | p.I264TLRG_8t1:c.791T>C, NM_001165963.1:c.791T>C, NM_001165964.1:c.791T>C, NM_001202435.1:c.791T>C, NM_006920.4:c.791T>CVOUS05/15/2020
29SCN1AEx6NM_001165963.1:c.830delGNM_001165963.1:c.830delG, NM_001165964.1:c.830delG, NM_001202435.1:c.830delG, NM_006920.4:c.830delGPathogenic12/30/2014 
30SCN1AEx6NM_001165963.1:c.835C>Ap.Gln279Lys | p.Q279KLRG_8t1:c.835C>A, NM_001165963.1:c.835C>A, NM_001165964.1:c.835C>A, NM_001202435.1:c.835C>A, NM_006920.4:c.835C>AVOUS12/11/2018
31SCN1AEx6NM_001165963.1:c.852T>Cp.Asn284= | p.N284=LRG_8t1:c.852T>C, NM_001165963.1:c.852T>C, NM_001165964.1:c.852T>C, NM_001202435.1:c.852T>C, NM_006920.4:c.852T>CVOUS11/17/2017
32SCN1AEx6NM_001165963.1:c.854C>Tp.Ala285Val | p.A285VLRG_8t1:c.854C>T, NM_001165963.1:c.854C>T, NM_001165964.1:c.854C>T, NM_001202435.1:c.854C>T, NM_006920.4:c.854C>TVOUS06/06/2014
33SCN1AEx6NM_001165963.1:c.935T>Gp.Phe312Cys | p.F312CLRG_8t1:c.935T>G, NM_001165963.1:c.935T>G, NM_001165964.1:c.935T>G, NM_001202435.1:c.935T>G, NM_006920.4:c.935T>GVOUS09/13/2016
34SCN1AEx7NM_001165963.1:c.972T>Cp.His324= | p.H324=NM_001165963.1:c.972T>C, NM_001165964.1:c.972T>C, NM_001202435.1:c.972T>C, NM_006920.4:c.972T>CVOUS07/23/2015
35SCN1AEx7NM_001165963.1:c.1006T>Gp.Cys336Gly | p.C336GVOUS08/31/2012
36SCN1AEx8NM_001165963.1:c.1029-1G>CNM_001165963.1:c.1029-1G>C, NM_001165964.1:c.1029-1G>C, NM_001202435.1:c.1029-1G>C, NM_006920.4:c.1029-1G>CPathogenic12/21/2012 
37SCN1AEx8NM_001165963.1:c.1041G>Ap.Glu347= | p.E347=LRG_8t1:c.1041G>A, NM_001165963.1:c.1041G>A, NM_001165964.1:c.1041G>A, NM_001202435.1:c.1041G>A, NM_006920.4:c.1041G>AVOUS11/20/2018
38SCN1AEx8NM_001165963.1:c.1076A>Gp.Asn359Ser | p.N359SLRG_8t1:c.1076A>G, NM_001165963.1:c.1076A>G, NM_001165964.1:c.1076A>G, NM_001202435.1:c.1076A>G, NM_006920.4:c.1076A>GVOUS04/01/2016
39SCN1AEx8NM_001165963.1:c.1091G>Tp.Ser364Ile | p.S364ILRG_8t1:c.1091G>T, NM_001165963.1:c.1091G>T, NM_001165964.1:c.1091G>T, NM_001202435.1:c.1091G>T, NM_006920.4:c.1091G>TVOUS01/31/2017
40SCN1AEx8NM_001165963.1:c.1092C>Ap.Ser364Arg | p.S364RLRG_8t1:c.1092C>A, NM_001165963.1:c.1092C>A, NM_001165964.1:c.1092C>A, NM_001202435.1:c.1092C>A, NM_006920.4:c.1092C>AVOUS08/21/2017
41SCN1AEx8NM_001165963.1:c.1131A>Cp.Arg377= | p.R377=NM_001165963.1:c.1131A>C, NM_001165964.1:c.1131A>C, NM_001202435.1:c.1131A>C, NM_006920.4:c.1131A>CBenign01/07/2016 
42SCN1AEx8NM_001165963.1:c.1132C>Tp.Leu378= | p.L378=LRG_8t1:c.1132C>T, NM_001165963.1:c.1132C>T, NM_001165964.1:c.1132C>T, NM_001202435.1:c.1132C>T, NM_006920.4:c.1132C>TVOUS03/31/2020
43SCN1AEx8NM_001165963.1:c.1162delTNM_001165963.1:c.1162delT, NM_001165964.1:c.1162delT, NM_001202435.1:c.1162delT, NM_006920.4:c.1162delTPathogenic11/19/2012 
44SCN1AEx9NM_001165963.1:c.1171-10_1171-9delTTNM_001165963.1:c.1171-10_1171-9delTT, NM_001165964.1:c.1171-10_1171-9delTT, NM_001202435.1:c.1171-10_1171-9delTT, NM_006920.4:c.1171-10_1171-9delTTBenign04/24/2015 
45SCN1AEx9NM_001165963.1:c.1177delCLRG_8t1:c.1177delC, NM_001165963.1:c.1177delC, NM_001165964.1:c.1177delC, NM_001202435.1:c.1177delC, NM_006920.4:c.1177delCPathogenic12/01/2016 
46SCN1AEx9NM_001165963.1:c.1177C>Tp.Arg393Cys | p.R393CLRG_8t1:c.1177C>T, NM_001165963.1:c.1177C>T, NM_001165964.1:c.1177C>T, NM_001202435.1:c.1177C>T, NM_006920.4:c.1177C>TPathogenic09/24/2014 
47SCN1AEx9NM_001165963.1:c.1194G>Ap.Thr398= | p.T398=VOUS09/26/2014
48SCN1AEx9NM_001165963.1:c.1212A>Gp.Val404= | p.V404=LRG_8t1:c.1212A>G, NM_001165963.1:c.1212A>G, NM_001165964.1:c.1212A>G, NM_001202435.1:c.1212A>G, NM_006920.4:c.1212A>GBenign02/12/2016 
49SCN1AEx9NM_001165963.1:c.1216G>Tp.Val406Phe | p.V406FLRG_8t1:c.1216G>T, NM_001165963.1:c.1216G>T, NM_001165964.1:c.1216G>T, NM_001202435.1:c.1216G>T, NM_006920.4:c.1216G>TVOUS04/23/2020
50SCN1AEx9NM_001165963.1:c.1220T>Cp.Ile407Thr | p.I407TLRG_8t1:c.1220T>C, NM_001165963.1:c.1220T>C, NM_001165964.1:c.1220T>C, NM_001202435.1:c.1220T>C, NM_006920.4:c.1220T>CVOUS11/11/2016
51SCN1AEx9NM_001165963.1:c.1259C>Ap.Ala420Asp | p.A420DLRG_8t1:c.1259C>A, NM_001165963.1:c.1259C>A, NM_001165964.1:c.1259C>A, NM_001202435.1:c.1259C>A, NM_006920.4:c.1259C>ALikely pathogenic07/08/2019 
52SCN1AEx9NM_001165963.1:c.1264G>Ap.Val422Met | p.V422MLRG_8t1:c.1264G>A, NM_001165963.1:c.1264G>A, NM_001165964.1:c.1264G>A, NM_001202435.1:c.1264G>A, NM_006920.4:c.1264G>ALikely pathogenic09/09/2015 
53SCN1AEx9NM_001165963.1:c.1277A>Gp.Tyr426Cys | p.Y426CLRG_8t1:c.1277A>G, NM_001165963.1:c.1277A>G, NM_001165964.1:c.1277A>G, NM_001202435.1:c.1277A>G, NM_006920.4:c.1277A>GPathogenic03/14/2019 
54SCN1AEx9NM_001165963.1:c.1360C>Ap.Gln454Lys | p.Q454KLRG_8t1:c.1360C>A, NM_001165963.1:c.1360C>A, NM_001165964.1:c.1360C>A, NM_001202435.1:c.1360C>A, NM_006920.4:c.1360C>AVOUS11/30/2016
55SCN1AEx9NM_001165963.1:c.1377+1G>CLRG_8t1:c.1377+1G>C, NM_001165963.1:c.1377+1G>C, NM_001165964.1:c.1377+1G>C, NM_001202435.1:c.1377+1G>C, NM_006920.4:c.1377+1G>CPathogenic06/07/2016 
56SCN1AEx9NM_001165963.1:c.1377+10C>TNM_001165963.1:c.1377+10C>T, NM_001165964.1:c.1377+10C>T, NM_001202435.1:c.1377+10C>T, NM_006920.4:c.1377+10C>TBenign07/08/2014 
57SCN1AEx10NM_001165963.1:c.1389G>Ap.Thr463= | p.T463=LRG_8t1:c.1389G>A, NM_001165963.1:c.1389G>A, NM_001165964.1:c.1389G>A, NM_001202435.1:c.1389G>A, NM_006920.4:c.1389G>AVOUS04/19/2019
58SCN1AEx10NM_001165963.1:c.1484A>Gp.Lys495Arg | p.K495RNM_001165963.1:c.1484A>G, NM_001165964.1:c.1484A>G, NM_001202435.1:c.1484A>G, NM_006920.4:c.1484A>GVOUS03/07/2013
59SCN1AEx10NM_001165963.1:c.1499G>Ap.Arg500Gln | p.R500QLRG_8t1:c.1499G>A, NM_001165963.1:c.1499G>A, NM_001165964.1:c.1499G>A, NM_001202435.1:c.1499G>A, NM_006920.4:c.1499G>AVOUS08/21/2018
60SCN1AEx10NM_001165963.1:c.1582A>Tp.Ser528Cys | p.S528CNM_001165963.1:c.1582A>T, NM_001165964.1:c.1582A>T, NM_001202435.1:c.1582A>T, NM_006920.4:c.1582A>TVOUS12/03/2015
61SCN1AEx10NM_001165963.1:c.1625G>Ap.Arg542Gln | p.R542QLRG_8t1:c.1625G>A, NM_001165963.1:c.1625G>A, NM_001165964.1:c.1625G>A, NM_001202435.1:c.1625G>A, NM_006920.4:c.1625G>ALikely benign06/06/2017 
62SCN1AEx10NM_001165963.1:c.1662+7C>GNM_001165963.1:c.1662+7C>G, NM_001165964.1:c.1662+7C>G, NM_001202435.1:c.1662+7C>G, NM_006920.4:c.1662+7C>GVOUS09/30/2013
63SCN1AEx10NM_001165963.1:c.1662+9C>ALRG_8t1:c.1662+9C>A, NM_001165963.1:c.1662+9C>A, NM_001165964.1:c.1662+9C>A, NM_001202435.1:c.1662+9C>A, NM_006920.4:c.1662+9C>ABenign03/16/2016 
64SCN1AEx11NM_001165963.1:c.1678C>Tp.Arg560Cys | p.R560CLRG_8t1:c.1678C>T, NM_001165963.1:c.1678C>T, NM_001165964.1:c.1678C>T, NM_001202435.1:c.1678C>T, NM_006920.4:c.1678C>TVOUS10/09/2015
65SCN1AEx11NM_001165963.1:c.1680T>Cp.Arg560= | p.R560=LRG_8t1:c.1680T>C, NM_001165963.1:c.1680T>C, NM_001165964.1:c.1680T>C, NM_001202435.1:c.1680T>C, NM_006920.4:c.1680T>CVOUS12/28/2016
66SCN1AEx11NM_001165963.1:c.1696C>Tp.Pro566Ser | p.P566SLRG_8t1:c.1696C>T, NM_001165963.1:c.1696C>T, NM_001165964.1:c.1696C>T, NM_001202435.1:c.1696C>T, NM_006920.4:c.1696C>TVOUS03/16/2021
67SCN1AEx11NM_001165963.1:c.1703G>Ap.Arg568Gln | p.R568QLRG_8t1:c.1703G>A, NM_001165963.1:c.1703G>A, NM_001165964.1:c.1703G>A, NM_001202435.1:c.1703G>A, NM_006920.4:c.1703G>AVOUS11/16/2017
68SCN1AEx11NM_001165963.1:c.1738C>Tp.Arg580* | p.R580XLRG_8t1:c.1738C>T, NM_001165963.1:c.1738C>T, NM_001165964.1:c.1738C>T, NM_001202435.1:c.1738C>T, NM_006920.4:c.1738C>TPathogenic02/27/2020 
69SCN1AEx11NM_001165963.1:c.1739G>Ap.Arg580Gln | p.R580QNM_001165963.1:c.1739G>A, NM_001165964.1:c.1739G>A, NM_001202435.1:c.1739G>A, NM_006920.4:c.1739G>AVOUS01/22/2014
70SCN1AEx11NM_001165963.1:c.1766A>Tp.Asp589Val | p.D589VLRG_8t1:c.1766A>T, NM_001165963.1:c.1766A>T, NM_001165964.1:c.1766A>T, NM_001202435.1:c.1766A>T, NM_006920.4:c.1766A>TLikely pathogenic05/29/2013 
71SCN1AEx11NM_001165963.1:c.1790C>Ap.Thr597Asn | p.T597NLRG_8t1:c.1790C>A, NM_001165963.1:c.1790C>A, NM_001165964.1:c.1790C>A, NM_001202435.1:c.1790C>A, NM_006920.4:c.1790C>AVOUS12/27/2016
72SCN1AEx11NM_001165963.1:c.1797G>Ap.Glu599= | p.E599=LRG_8t1:c.1797G>A, NM_001165963.1:c.1797G>A, NM_001165964.1:c.1797G>A, NM_001202435.1:c.1797G>A, NM_006920.4:c.1797G>AVOUS01/24/2017
73SCN1AEx11NM_001165963.1:c.1811G>Ap.Arg604His | p.R604HLRG_8t1:c.1811G>A, NM_001165963.1:c.1811G>A, NM_001165964.1:c.1811G>A, NM_001202435.1:c.1811G>A, NM_006920.4:c.1811G>ABenign01/10/2013 
74SCN1AEx11NM_001165963.1:c.1818T>Cp.Asp606= | p.D606=NM_001165963.1:c.1818T>C, NM_001165964.1:c.1818T>C, NM_001202435.1:c.1818T>C, NM_006920.4:c.1818T>CVOUS01/16/2014
75SCN1AEx11NM_001165963.1:c.1837C>Tp.Arg613* | p.R613XNM_001165963.1:c.1837C>T, NM_001165964.1:c.1837C>T, NM_001202435.1:c.1837C>T, NM_006920.4:c.1837C>TPathogenic04/03/2013 
76SCN1AEx11NM_001165963.1:c.1889G>Ap.Arg630Gln | p.R630QLRG_8t1:c.1889G>A, NM_001165963.1:c.1889G>A, NM_001165964.1:c.1889G>A, NM_001202435.1:c.1889G>A, NM_006920.4:c.1889G>AVOUS03/16/2015
77SCN1AEx11NM_001165963.1:c.1948G>Ap.Val650Met | p.V650MNM_001165963.1:c.1948G>A, NM_001165964.1:c.1948G>A, NM_001202435.1:c.1948G>A, NM_006920.4:c.1948G>AVOUS06/04/2013
78SCN1AEx11NM_001165963.1:c.1988C>Tp.Pro663Leu | p.P663LLRG_8t1:c.1988C>T, NM_001165963.1:c.1988C>T, NM_001165964.1:c.1959+29C>T, NM_001202435.1:c.1988C>T, NM_006920.4:c.1988C>TVOUS11/01/2017
79SCN1AEx11NM_001165963.1:c.2043+6_2043+9delGAAGNM_001165963.1:c.2043+6_2043+9delGAAG, NM_001165964.1:c.1959+90_1959+93delGAAG, NM_001202435.1:c.2043+6_2043+9delGAAG, NM_006920.4:c.2010+39_2010+42delGAAGVOUS05/14/2015
80SCN1AEx12NM_001165963.1:c.2044-5dupTNM_001165963.1:c.2044-5_2044-4insT, NM_001165964.1:c.1960-5_1960-4insT, NM_001202435.1:c.2044-5_2044-4insT, NM_006920.4:c.2011-5_2011-4insTVOUS04/29/2015
81SCN1AEx12NM_001165963.1:c.2057A>Cp.Glu686Ala | p.E686ANM_001165963.1:c.2057A>C, NM_001165964.1:c.1973A>C, NM_001202435.1:c.2057A>C, NM_006920.4:c.2024A>CVOUS09/01/2015
82SCN1AEx12NM_001165963.1:c.2095G>Ap.Val699Ile | p.V699ILRG_8t1:c.2062G>A, NM_001165963.1:c.2095G>A, NM_001165964.1:c.2011G>A, NM_001202435.1:c.2095G>A, NM_006920.4:c.2062G>AVOUS08/13/2019
83SCN1AEx12NM_001165963.1:c.2134C>Tp.Arg712* | p.R712XNM_001165963.1:c.2134C>T, NM_001165964.1:c.2050C>T, NM_001202435.1:c.2134C>T, NM_006920.4:c.2101C>TPathogenic07/31/2014 
84SCN1AEx12NM_001165963.1:c.2176+17A>GLRG_8t1:c.2143+17A>G, NM_001165963.1:c.2176+17A>G, NM_001165964.1:c.2092+17A>G, NM_001202435.1:c.2176+17A>G, NM_006920.4:c.2143+17A>GBenign04/30/2015 
85SCN1AEx13NM_001165963.1:c.2236T>Cp.Leu746= | p.L746=LRG_8t1:c.2203T>C, NM_001165963.1:c.2236T>C, NM_001165964.1:c.2152T>C, NM_001202435.1:c.2236T>C, NM_006920.4:c.2203T>CVOUS12/27/2019
86SCN1AEx13NM_001165963.1:c.2292T>Cp.Val764= | p.V764=LRG_8t1:c.2259T>C, NM_001165963.1:c.2292T>C, NM_001165964.1:c.2208T>C, NM_001202435.1:c.2292T>C, NM_006920.4:c.2259T>CBenign02/12/2016 
87SCN1AEx13NM_001165963.1:c.2378C>Tp.Thr793Met | p.T793MLRG_8t1:c.2345C>T, NM_001165963.1:c.2378C>T, NM_001165964.1:c.2294C>T, NM_001202435.1:c.2378C>T, NM_006920.4:c.2345C>TVOUS12/21/2018
88SCN1AEx14NM_001165963.1:c.2416-4T>GNM_001165963.1:c.2416-4T>G, NM_001165964.1:c.2332-4T>G, NM_001202435.1:c.2416-4T>G, NM_006920.4:c.2383-4T>GBenign07/15/2013 
89SCN1AEx14NM_001165963.1:c.2420dupTLRG_8t1:c.2387_2388insT, NM_001165963.1:c.2420_2421insT, NM_001165963.1:c.2420dup, NM_001165964.1:c.2336_2337insT, NM_001165964.1:c.2336dup, NM_001202435.1:c.2420_2421insT, NM_001202435.1:c.2420dup, NM_006920.4:c.2387_2388insT, NM_006920.4:c.2387dupPathogenic12/10/2013 
90SCN1AEx14NM_001165963.1:c.2421C>Tp.Phe807= | p.F807=LRG_8t1:c.2388C>T, NM_001165963.1:c.2421C>T, NM_001165964.1:c.2337C>T, NM_001202435.1:c.2421C>T, NM_006920.4:c.2388C>TLikely benign12/18/2014 
91SCN1AEx14NM_001165963.1:c.2486A>Tp.Gln829Leu | p.Q829LLRG_8t1:c.2453A>T, NM_001165963.1:c.2486A>T, NM_001165964.1:c.2402A>T, NM_001202435.1:c.2486A>T, NM_006920.4:c.2453A>TVOUS10/14/2019
92SCN1AEx14NM_001165963.1:c.2576G>Ap.Arg859His | p.R859HLRG_8t1:c.2543G>A, NM_001165963.1:c.2576G>A, NM_001165964.1:c.2492G>A, NM_001202435.1:c.2576G>A, NM_006920.4:c.2543G>APathogenic07/01/2013 
93SCN1AEx14NM_001165963.1:c.2584C>Tp.Arg862* | p.R862XNM_001165963.1:c.2584C>T, NM_001165964.1:c.2500C>T, NM_001202435.1:c.2584C>T, NM_006920.4:c.2551C>TPathogenic05/19/2014 
94SCN1AEx14NM_001165963.1:c.2585G>Ap.Arg862Gln | p.R862QLRG_8t1:c.2552G>A, NM_001165963.1:c.2585G>A, NM_001165964.1:c.2501G>A, NM_001202435.1:c.2585G>A, NM_006920.4:c.2552G>AVOUS05/05/2017
95SCN1AEx15NM_001165963.1:c.2590-2A>GNM_001165963.1:c.2590-2A>G, NM_001165964.1:c.2506-2A>G, NM_001202435.1:c.2590-2A>G, NM_006920.4:c.2557-2A>GPathogenic04/29/2014 
96SCN1AEx15NM_001165963.1:c.2659G>Ap.Val887Met | p.V887MNM_001165963.1:c.2659G>A, NM_001165964.1:c.2575G>A, NM_001202435.1:c.2659G>A, NM_006920.4:c.2626G>AVOUS08/13/2015
97SCN1AEx15NM_001165963.1:c.2716G>Ap.Val906Met | p.V906MNM_001165963.1:c.2716G>A, NM_001165964.1:c.2632G>A, NM_001202435.1:c.2716G>A, NM_006920.4:c.2683G>AVOUS05/04/2015
98SCN1AEx15NM_001165963.1:c.2791C>Tp.Arg931Cys | p.R931CNM_001165963.1:c.2791C>T, NM_001165964.1:c.2707C>T, NM_001202435.1:c.2791C>T, NM_006920.4:c.2758C>TLikely pathogenic04/30/2014 
99SCN1AEx15NM_001165963.1:c.2816A>Gp.His939Arg | p.H939RLRG_8t1:c.2783A>G, NM_001165963.1:c.2816A>G, NM_001165964.1:c.2732A>G, NM_001202435.1:c.2816A>G, NM_006920.4:c.2783A>GVOUS09/04/2013
100SCN1AEx15NM_001165963.1:c.2889T>Cp.Ala963= | p.A963=LRG_8t1:c.2856T>C, NM_001165963.1:c.2889T>C, NM_001165964.1:c.2805T>C, NM_001202435.1:c.2889T>C, NM_006920.4:c.2856T>CBenign08/09/2012 
101SCN1AEx15NM_001165963.1:c.2923G>Cp.Val975Leu | p.V975LNM_001165963.1:c.2923G>C, NM_001165964.1:c.2839G>C, NM_001202435.1:c.2923G>C, NM_006920.4:c.2890G>CVOUS03/18/2014
102SCN1AEx16NM_001165963.1:c.2984T>Gp.Phe995Cys | p.F995CNM_001165963.1:c.2984T>G, NM_001165964.1:c.2900T>G, NM_001202435.1:c.2984T>G, NM_006920.4:c.2951T>GVOUS04/27/2014
103SCN1AEx16NM_001165963.1:c.3060C>Ap.His1020Gln | p.H1020QNM_001165963.1:c.3060C>A, NM_001165964.1:c.2976C>A, NM_001202435.1:c.3060C>A, NM_006920.4:c.3027C>AVOUS03/31/2015
104SCN1AEx16NM_001165963.1:c.3101T>Cp.Ile1034Thr | p.I1034TLRG_8t1:c.3068T>C, NM_001165963.1:c.3101T>C, NM_001165964.1:c.3017T>C, NM_001202435.1:c.3101T>C, NM_006920.4:c.3068T>CLikely benign07/30/2015 
105SCN1AEx16NM_001165963.1:c.3118A>Cp.Arg1040= | p.R1040=LRG_8t1:c.3085A>C, NM_001165963.1:c.3118A>C, NM_001165964.1:c.3034A>C, NM_001202435.1:c.3118A>C, NM_006920.4:c.3085A>CVOUS12/22/2016
106SCN1AEx16NM_001165963.1:c.3120G>Tp.Arg1040Ser | p.R1040SLRG_8t1:c.3087G>T, NM_001165963.1:c.3120G>T, NM_001165964.1:c.3036G>T, NM_001202435.1:c.3120G>T, NM_006920.4:c.3087G>TVOUS01/25/2017
107SCN1AEx16NM_001165963.1:c.3176A>Tp.Asp1059Val | p.D1059VNM_001165963.1:c.3176A>T, NM_001165964.1:c.3092A>T, NM_001202435.1:c.3176A>T, NM_006920.4:c.3143A>TVOUS09/13/2014
108SCN1AEx16NM_001165963.1:c.3199G>Ap.Ala1067Thr | p.A1067TLRG_8t1:c.3166G>A, NM_001165963.1:c.3199G>A, NM_001165964.1:c.3115G>A, NM_001202435.1:c.3199G>A, NM_006920.4:c.3166G>ABenign01/31/2017 
109SCN1AEx17NM_001165963.1:c.3450C>Tp.Ser1150= | p.S1150=LRG_8t1:c.3417C>T, NM_001165963.1:c.3450C>T, NM_001165964.1:c.3366C>T, NM_001202435.1:c.3450C>T, NM_006920.4:c.3417C>TLikely benign11/24/2015 
110SCN1AEx17NM_001165963.1:c.3481G>Ap.Ala1161Thr | p.A1161TNM_001165963.1:c.3481G>A, NM_001165964.1:c.3397G>A, NM_001202435.1:c.3481G>A, NM_006920.4:c.3448G>AVOUS04/22/2015
111SCN1AEx17NM_001165963.1:c.3521C>Gp.Thr1174Ser | p.T1174SLRG_8t1:c.3488C>G, NM_001165963.1:c.3521C>G, NM_001165964.1:c.3437C>G, NM_001202435.1:c.3521C>G, NM_006920.4:c.3488C>GVOUS03/17/2021
112SCN1AEx18NM_001165963.1:c.3585T>Cp.Asn1195= | p.N1195=LRG_8t1:c.3552T>C, NM_001165963.1:c.3585T>C, NM_001165964.1:c.3501T>C, NM_001202435.1:c.3585T>C, NM_006920.4:c.3552T>CVOUS08/01/2018
113SCN1AEx18NM_001165963.1:c.3591A>Gp.Glu1197= | p.E1197=LRG_8t1:c.3558A>G, NM_001165963.1:c.3591A>G, NM_001165964.1:c.3507A>G, NM_001202435.1:c.3591A>G, NM_006920.4:c.3558A>GVOUS01/16/2017
114SCN1AEx18NM_001165963.1:c.3646G>Ap.Glu1216Lys | p.E1216KNM_001165963.1:c.3646G>A, NM_001165964.1:c.3562G>A, NM_001202435.1:c.3646G>A, NM_006920.4:c.3613G>ALikely pathogenic12/10/2012 
115SCN1AEx18NM_001165963.1:c.3693T>Cp.Ser1231= | p.S1231=NM_001165963.1:c.3693T>C, NM_001165964.1:c.3609T>C, NM_001202435.1:c.3693T>C, NM_006920.4:c.3660T>CVOUS04/23/2015
116SCN1AEx19NM_001165963.1:c.3714A>Cp.Glu1238Asp | p.E1238DNM_001165963.1:c.3714A>C, NM_001165964.1:c.3630A>C, NM_001202435.1:c.3714A>C, NM_006920.4:c.3681A>CVOUS04/14/2014
117SCN1AEx19NM_001165963.1:c.3723T>Cp.Tyr1241= | p.Y1241=LRG_8t1:c.3690T>C, NM_001165963.1:c.3723T>C, NM_001165964.1:c.3639T>C, NM_001202435.1:c.3723T>C, NM_006920.4:c.3690T>CBenign04/07/2014 
118SCN1AEx19NM_001165963.1:c.3732G>Ap.Gln1244= | p.Q1244=NM_001165963.1:c.3732G>A, NM_001165964.1:c.3648G>A, NM_001202435.1:c.3732G>A, NM_006920.4:c.3699G>AVOUS04/30/2015
119SCN1AEx19NM_001165963.1:c.3733C>Tp.Arg1245* | p.R1245XNM_001165963.1:c.3733C>T, NM_001165964.1:c.3649C>T, NM_001202435.1:c.3733C>T, NM_006920.4:c.3700C>TPathogenic02/20/2014 
120SCN1AEx19NM_001165963.1:c.3776T>Cp.Phe1259Ser | p.F1259SNM_001165963.1:c.3776T>C, NM_001165964.1:c.3692T>C, NM_001202435.1:c.3776T>C, NM_006920.4:c.3743T>CVOUS09/10/2013
121SCN1AEx19NM_001165963.1:c.3804T>Cp.Leu1268= | p.L1268=NM_001165963.1:c.3804T>C, NM_001165964.1:c.3720T>C, NM_001202435.1:c.3804T>C, NM_006920.4:c.3771T>CBenign05/28/2015 
122SCN1AEx19NM_001165963.1:c.3810A>Cp.Lys1270Asn | p.K1270NNM_001165963.1:c.3810A>C, NM_001165964.1:c.3726A>C, NM_001202435.1:c.3810A>C, NM_006920.4:c.3777A>CVOUS11/26/2013
123SCN1AEx19NM_001165963.1:c.3817G>Cp.Ala1273Pro | p.A1273PLRG_8t1:c.3784G>C, NM_001165963.1:c.3817G>C, NM_001165964.1:c.3733G>C, NM_001202435.1:c.3817G>C, NM_006920.4:c.3784G>CVOUS09/29/2016
124SCN1AEx19NM_001165963.1:c.3821A>Gp.Tyr1274Cys | p.Y1274CLRG_8t1:c.3788A>G, NM_001165963.1:c.3821A>G, NM_001165964.1:c.3737A>G, NM_001202435.1:c.3821A>G, NM_006920.4:c.3788A>GVOUS05/25/2018
125SCN1AEx19NM_001165963.1:c.3866T>Cp.Phe1289Ser | p.F1289SNM_001165963.1:c.3866T>C, NM_001165964.1:c.3782T>C, NM_001202435.1:c.3866T>C, NM_006920.4:c.3833T>CVOUS08/29/2014
126SCN1AEx20NM_001165963.1:c.3886T>Cp.Leu1296= | p.L1296=LRG_8t1:c.3853T>C, NM_001165963.1:c.3886T>C, NM_001165964.1:c.3802T>C, NM_001202435.1:c.3886T>C, NM_006920.4:c.3853T>CBenign03/26/2019 
127SCN1AEx20NM_001165963.1:c.3899C>Tp.Thr1300Ile | p.T1300INM_001165963.1:c.3899C>T, NM_001165964.1:c.3815C>T, NM_001202435.1:c.3899C>T, NM_006920.4:c.3866C>TVOUS06/16/2015
128SCN1AEx20NM_001165963.1:c.3924A>Tp.Glu1308Asp | p.E1308DNM_001165963.1:c.3924A>T, NM_001165964.1:c.3840A>T, NM_001202435.1:c.3924A>T, NM_006920.4:c.3891A>TVOUS04/03/2014
129SCN1AEx20NM_001165963.1:c.3948G>Ap.Arg1316= | p.R1316=LRG_8t1:c.3915G>A, NM_001165963.1:c.3948G>A, NM_001165964.1:c.3864G>A, NM_001202435.1:c.3948G>A, NM_006920.4:c.3915G>ALikely benign06/04/2016 
130SCN1AEx20NM_001165963.1:c.3985C>Tp.Arg1329* | p.R1329XNM_001165963.1:c.3985C>T, NM_001165964.1:c.3901C>T, NM_001202435.1:c.3985C>T, NM_006920.4:c.3952C>TPathogenic** 
131SCN1AEx21NM_001165963.1:c.4010T>Gp.Val1337Gly | p.V1337GLRG_8t1:c.3977T>G, NM_001165963.1:c.4010T>G, NM_001165964.1:c.3926T>G, NM_001202435.1:c.4010T>G, NM_006920.4:c.3977T>GVOUS03/12/2018
132SCN1AEx21NM_001165963.1:c.4129A>Gp.Ile1377Val | p.I1377VLRG_8t1:c.4096A>G, NM_001165963.1:c.4129A>G, NM_001165964.1:c.4045A>G, NM_001202435.1:c.4129A>G, NM_006920.4:c.4096A>GVOUS04/19/2016
133SCN1AEx21NM_001165963.1:c.4188C>Gp.Cys1396Trp | p.C1396WVOUS**
134SCN1AEx21NM_001165963.1:c.4219C>Tp.Arg1407* | p.R1407XNM_001165963.1:c.4219C>T, NM_001165964.1:c.4135C>T, NM_001202435.1:c.4219C>T, NM_006920.4:c.4186C>TPathogenic05/09/2013 
135SCN1AEx21NM_001165963.1:c.4224G>Ap.Trp1408* | p.W1408XLRG_8t1:c.4191G>A, NM_001165963.1:c.4224G>A, NM_001165964.1:c.4140G>A, NM_001202435.1:c.4224G>A, NM_006920.4:c.4191G>APathogenic03/09/2015 
136SCN1AEx21NM_001165963.1:c.4232T>Cp.Val1411Ala | p.V1411ALRG_8t1:c.4199T>C, NM_001165963.1:c.4232T>C, NM_001165964.1:c.4148T>C, NM_001202435.1:c.4232T>C, NM_006920.4:c.4199T>CVOUS10/07/2019
137SCN1AEx21NM_001165963.1:c.4242C>Gp.Asn1414Lys | p.N1414KNM_001165963.1:c.4242C>G, NM_001165964.1:c.4158C>G, NM_001202435.1:c.4242C>G, NM_006920.4:c.4209C>GVOUS07/25/2013
138SCN1AEx21NM_001165963.1:c.4284+2T>CNM_001165963.1:c.4284+2T>C, NM_001165964.1:c.4200+2T>C, NM_001202435.1:c.4284+2T>C, NM_006920.4:c.4251+2T>CPathogenic06/19/2013 
139SCN1AEx21NM_001165963.1:c.4284+7G>ALRG_8t1:c.4251+7G>A, NM_001165963.1:c.4284+7G>A, NM_001165964.1:c.4200+7G>A, NM_001202435.1:c.4284+7G>A, NM_006920.4:c.4251+7G>AVOUS11/28/2017
140SCN1AEx23NM_001165963.1:c.4339-5G>ALRG_8t1:c.4306-5G>A, NM_001165963.1:c.4339-5G>A, NM_001165964.1:c.4255-5G>A, NM_001202435.1:c.4339-5G>A, NM_006920.4:c.4306-5G>AVOUS09/30/2016
141SCN1AEx23NM_001165963.1:c.4389T>Ap.Phe1463Leu | p.F1463LNM_001165963.1:c.4389T>A, NM_001165964.1:c.4305T>A, NM_001202435.1:c.4389T>A, NM_006920.4:c.4356T>AVOUS08/25/2014
142SCN1AEx23NM_001165963.1:c.4393A>Gp.Ile1465Val | p.I1465VNM_001165963.1:c.4393A>G, NM_001165964.1:c.4309A>G, NM_001202435.1:c.4393A>G, NM_006920.4:c.4360A>GBenign02/07/2014 
143SCN1AEx23NM_001165963.1:c.4407T>Ap.Phe1469Leu | p.F1469LNM_001165963.1:c.4407T>A, NM_001165964.1:c.4323T>A, NM_001202435.1:c.4407T>A, NM_006920.4:c.4374T>AVOUS04/02/2015
144SCN1AEx23NM_001165963.1:c.4446C>Gp.Ile1482Met | p.I1482MNM_001165963.1:c.4446C>G, NM_001165964.1:c.4362C>G, NM_001202435.1:c.4446C>G, NM_006920.4:c.4413C>GVOUS11/26/2013
145SCN1AEx23NM_001165963.1:c.4446C>Tp.Ile1482= | p.I1482=NM_001165963.1:c.4446C>T, NM_001165964.1:c.4362C>T, NM_001202435.1:c.4446C>T, NM_006920.4:c.4413C>TVOUS10/16/2012
146SCN1AEx24NM_001165963.1:c.4548G>Ap.Ser1516= | p.S1516=NM_001165963.1:c.4548G>A, NM_001165964.1:c.4464G>A, NM_001202435.1:c.4548G>A, NM_006920.4:c.4515G>ABenign01/07/2016 
147SCN1AEx25NM_001165963.1:c.4582A>Gp.Asn1528Asp | p.N1528DLRG_8t1:c.4549A>G, NM_001165963.1:c.4582A>G, NM_001165964.1:c.4498A>G, NM_001202435.1:c.4582A>G, NM_006920.4:c.4549A>GVOUS03/16/2016
148SCN1AEx25NM_001165963.1:c.4584C>Ap.Asn1528Lys | p.N1528KNM_001165963.1:c.4584C>A, NM_001165964.1:c.4500C>A, NM_001202435.1:c.4584C>A, NM_006920.4:c.4551C>AVOUS09/20/2013
149SCN1AEx25NM_001165963.1:c.4628T>Cp.Phe1543Ser | p.F1543SLRG_8t1:c.4595T>C, NM_001165963.1:c.4628T>C, NM_001165964.1:c.4544T>C, NM_001202435.1:c.4628T>C, NM_006920.4:c.4595T>CVOUS11/11/2021
150SCN1AEx25NM_001165963.1:c.4667T>Ap.Val1556Asp | p.V1556DNM_001165963.1:c.4667T>A, NM_001165964.1:c.4583T>A, NM_001202435.1:c.4667T>A, NM_006920.4:c.4634T>AVOUS03/07/2013
151SCN1AEx25NM_001165963.1:c.4723C>Tp.Arg1575Cys | p.R1575CLRG_8t1:c.4690C>T, NM_001165963.1:c.4723C>T, NM_001165964.1:c.4639C>T, NM_001202435.1:c.4723C>T, NM_006920.4:c.4690C>TVOUS08/17/2017
152SCN1AEx25NM_001165963.1:c.4724G>Ap.Arg1575His | p.R1575HLRG_8t1:c.4691G>A, NM_001165963.1:c.4724G>A, NM_001165964.1:c.4640G>A, NM_001202435.1:c.4724G>A, NM_006920.4:c.4691G>AVOUS11/12/2019
153SCN1AEx25NM_001165963.1:c.4731T>Cp.Asn1577= | p.N1577=LRG_8t1:c.4698T>C, NM_001165963.1:c.4731T>C, NM_001165964.1:c.4647T>C, NM_001202435.1:c.4731T>C, NM_006920.4:c.4698T>CLikely benign01/12/2016 
154SCN1AEx25NM_001165963.1:c.4793A>Tp.Tyr1598Phe | p.Y1598FLRG_8t1:c.4760A>T, NM_001165963.1:c.4793A>T, NM_001165964.1:c.4709A>T, NM_001202435.1:c.4793A>T, NM_006920.4:c.4760A>TVOUS04/30/2019
155SCN1AEx25NM_001165963.1:c.4812delGLRG_8t1:c.4779delG, NM_001165963.1:c.4812delG, NM_001165964.1:c.4728delG, NM_001202435.1:c.4812delG, NM_006920.4:c.4779delGPathogenic04/01/2016 
156SCN1AEx26NM_001165963.1:c.4872G>Ap.Leu1624= | p.L1624=LRG_8t1:c.4839G>A, NM_001165963.1:c.4872G>A, NM_001165964.1:c.4788G>A, NM_001202435.1:c.4872G>A, NM_006920.4:c.4839G>AVOUS08/29/2019
157SCN1AEx26NM_001165963.1:c.4906C>Tp.Arg1636* | p.R1636XLRG_8t1:c.4873C>T, NM_001165963.1:c.4906C>T, NM_001165964.1:c.4822C>T, NM_001202435.1:c.4906C>T, NM_006920.4:c.4873C>TPathogenic11/06/2015 
158SCN1AEx26NM_001165963.1:c.4907G>Ap.Arg1636Gln | p.R1636QNM_001165963.1:c.4907G>A, NM_001165964.1:c.4823G>A, NM_001202435.1:c.4907G>A, NM_006920.4:c.4874G>ALikely pathogenic03/13/2015 
159SCN1AEx26NM_001165963.1:c.4945C>Tp.Leu1649= | p.L1649=NM_001165963.1:c.4945C>T, NM_001165964.1:c.4861C>T, NM_001202435.1:c.4945C>T, NM_006920.4:c.4912C>TBenign01/22/2015 
160SCN1AEx26NM_001165963.1:c.4958C>Tp.Ala1653Val | p.A1653VLRG_8t1:c.4925C>T, NM_001165963.1:c.4958C>T, NM_001165964.1:c.4874C>T, NM_001202435.1:c.4958C>T, NM_006920.4:c.4925C>TVOUS10/05/2018
161SCN1AEx26NM_001165963.1:c.5010_5013delGTTTp.Phe1671Thrfs*8 | p.F1671TfsX8LRG_8t1:c.4977_4980delGTTT, NM_001165963.1:c.5010_5013delGTTT, NM_001165964.1:c.4926_4929delGTTT, NM_001202435.1:c.5010_5013delGTTT, NM_006920.4:c.4977_4980delGTTTPathogenic10/30/2019 
162SCN1AEx26NM_001165963.1:c.5018T>Cp.Ile1673Thr | p.I1673TLRG_8t1:c.4985T>C, NM_001165963.1:c.5018T>C, NM_001165964.1:c.4934T>C, NM_001202435.1:c.5018T>C, NM_006920.4:c.4985T>CLikely pathogenic05/31/2019 
163SCN1AEx26NM_001165963.1:c.5141T>Cp.Met1714Thr | p.M1714TLRG_8t1:c.5108T>C, NM_001165963.1:c.5141T>C, NM_001165964.1:c.5057T>C, NM_001202435.1:c.5141T>C, NM_006920.4:c.5108T>CLikely pathogenic09/11/2013 
164SCN1AEx26NM_001165963.1:c.5286A>Gp.Gly1762= | p.G1762=NM_001165963.1:c.5286A>G, NM_001165964.1:c.5202A>G, NM_001202435.1:c.5286A>G, NM_006920.4:c.5253A>GLikely benign01/30/2015 
165SCN1AEx26NM_001165963.1:c.5335A>Gp.Asn1779Asp | p.N1779DNM_001165963.1:c.5335A>G, NM_001165964.1:c.5251A>G, NM_001202435.1:c.5335A>G, NM_006920.4:c.5302A>GVOUS06/05/2014
166SCN1AEx26NM_001165963.1:c.5348C>Tp.Ala1783Val | p.A1783VLRG_8t1:c.5315C>T, NM_001165963.1:c.5348C>T, NM_001165964.1:c.5264C>T, NM_001202435.1:c.5348C>T, NM_006920.4:c.5315C>TPathogenic06/02/2016 
167SCN1AEx26NM_001165963.1:c.5389G>Cp.Ala1797Pro | p.A1797PLRG_8t1:c.5356G>C, NM_001165963.1:c.5389G>C, NM_001165964.1:c.5305G>C, NM_001202435.1:c.5389G>C, NM_006920.4:c.5356G>CLikely pathogenic04/01/2016 
168SCN1AEx26NM_001165963.1:c.5418G>Ap.Glu1806= | p.E1806=NM_001165963.1:c.5418G>A, NM_001165964.1:c.5334G>A, NM_001202435.1:c.5418G>A, NM_006920.4:c.5385G>ABenign02/19/2016 
169SCN1AEx26NM_001165963.1:c.5433T>Cp.Val1811= | p.V1811=NM_001165963.1:c.5433T>C, NM_001165964.1:c.5349T>C, NM_001202435.1:c.5433T>C, NM_006920.4:c.5400T>CVOUS11/25/2014
170SCN1AEx26NM_001165963.1:c.5532A>Gp.Pro1844= | p.P1844=NM_001165963.1:c.5532A>G, NM_001165964.1:c.5448A>G, NM_001202435.1:c.5532A>G, NM_006920.4:c.5499A>GVOUS01/14/2016
171SCN1AEx26NM_001165963.1:c.5539delCp.Leu1847Serfs*11 | p.L1847SfsX11LRG_8t1:c.5506delC, NM_001165963.1:c.5539delC, NM_001165964.1:c.5455delC, NM_001202435.1:c.5539delC, NM_006920.4:c.5506delCPathogenic05/20/2013 
172SCN1AEx26NM_001165963.1:c.5557G>Cp.Asp1853His | p.D1853HVOUS09/30/2014
173SCN1AEx26NM_001165963.1:c.5563C>Tp.Pro1855Ser | p.P1855SLRG_8t1:c.5530C>T, NM_001165963.1:c.5563C>T, NM_001165964.1:c.5479C>T, NM_001202435.1:c.5563C>T, NM_006920.4:c.5530C>TVOUS06/06/2014
174SCN1AEx26NM_001165963.1:c.5568G>Ap.Met1856Ile | p.M1856ILRG_8t1:c.5535G>A, NM_001165963.1:c.5568G>A, NM_001165964.1:c.5484G>A, NM_001202435.1:c.5568G>A, NM_006920.4:c.5535G>AVOUS12/28/2016
175SCN1AEx26NM_001165963.1:c.5606T>Cp.Phe1869Ser | p.F1869SLRG_8t1:c.5573T>C, NM_001165963.1:c.5606T>C, NM_001165964.1:c.5522T>C, NM_001202435.1:c.5606T>C, NM_006920.4:c.5573T>CVOUS06/16/2017
176SCN1AEx26NM_001165963.1:c.5620C>Tp.Arg1874Trp | p.R1874WLRG_8t1:c.5587C>T, NM_001165963.1:c.5620C>T, NM_001165964.1:c.5536C>T, NM_001202435.1:c.5620C>T, NM_006920.4:c.5587C>TVOUS11/15/2019
177SCN1AEx26NM_001165963.1:c.5639G>Ap.Gly1880Glu | p.G1880ELRG_8t1:c.5606G>A, NM_001165963.1:c.5639G>A, NM_001165964.1:c.5555G>A, NM_001202435.1:c.5639G>A, NM_006920.4:c.5606G>AVOUS04/21/2016
178SCN1AEx26NM_001165963.1:c.5782C>Gp.Arg1928Gly | p.R1928GLRG_8t1:c.5749C>G, NM_001165963.1:c.5782C>G, NM_001165964.1:c.5698C>G, NM_001202435.1:c.5782C>G, NM_006920.4:c.5749C>GLikely benign04/05/2017 
179SCN1AEx26NM_001165963.1:c.5782C>Tp.Arg1928Cys | p.R1928CLRG_8t1:c.5749C>T, NM_001165963.1:c.5782C>T, NM_001165964.1:c.5698C>T, NM_001202435.1:c.5782C>T, NM_006920.4:c.5749C>TVOUS08/09/2019
180SCN1AEx26NM_001165963.1:c.5864T>Cp.Ile1955Thr | p.I1955TNM_001165963.1:c.5864T>C, NM_001165964.1:c.5780T>C, NM_001202435.1:c.5864T>C, NM_006920.4:c.5831T>CBenign07/09/2013 
181SCN1AEx26NM_001165963.1:c.5951C>Ap.Pro1984His | p.P1984HLRG_8t1:c.5918C>A, NM_001165963.1:c.5951C>A, NM_001165964.1:c.5867C>A, NM_001202435.1:c.5951C>A, NM_006920.4:c.5918C>AVOUS10/21/2019
182SCN1AEx26NM_001165963.1:c.5988A>Cp.Lys1996Asn | p.K1996NLRG_8t1:c.5955A>C, NM_001165963.1:c.5988A>C, NM_001165964.1:c.5904A>C, NM_001202435.1:c.5988A>C, NM_006920.4:c.5955A>CVOUS12/07/2016
183SCN1AEx4NM_001165963.3:c.68C>Tp.Ala23Val | p.A23VLRG_8t1:c.68C>T, NM_001165963.1:c.68C>T, NM_001165964.1:c.68C>T, NM_001202435.1:c.68C>T, NM_006920.4:c.68C>TLikely benign02/16/2021 
184SCN1AEx10NM_001165963.3:c.965G>Cp.Arg322Thr | p.R322TVOUS02/11/2021
185SCN1AEx13NM_001165963.3:c.1509A>Gp.Lys503= | p.K503=LRG_8t1:c.1509A>G, NM_001165963.1:c.1509A>G, NM_001165964.1:c.1509A>G, NM_001202435.1:c.1509A>G, NM_006920.4:c.1509A>GVOUS03/09/2021
186SCN1AEx13NM_001165963.3:c.1624C>Ap.Arg542= | p.R542=LRG_8t1:c.1624C>A, NM_001165963.1:c.1624C>A, NM_001165964.1:c.1624C>A, NM_001202435.1:c.1624C>A, NM_006920.4:c.1624C>AVOUS12/28/2020
187SCN1AEx14NM_001165963.3:c.1680T>Cp.Arg560= | p.R560=LRG_8t1:c.1680T>C, NM_001165963.1:c.1680T>C, NM_001165964.1:c.1680T>C, NM_001202435.1:c.1680T>C, NM_006920.4:c.1680T>CVOUS06/15/2020
188SCN1AEx14NM_001165963.3:c.1753G>Cp.Gly585Arg | p.G585RLRG_8t1:c.1753G>C, NM_001165963.1:c.1753G>C, NM_001165964.1:c.1753G>C, NM_001202435.1:c.1753G>C, NM_006920.4:c.1753G>CVOUS07/28/2020
189SCN1AEx15NM_001165963.3:c.2114_2118delAAGATinsGCAAACGAGp.Glu705Glyfs*25 | p.E705GfsX25LRG_8t1:c.2081_2085delinsGCAAACGAG, NM_001165963.1:c.2114_2118delinsGCAAACGAG, NM_001165964.1:c.2030_2034delinsGCAAACGAG, NM_001202435.1:c.2114_2118delinsGCAAACGAG, NM_006920.4:c.2081_2085delinsGCAAACGAGPathogenic10/14/2020 
190SCN1AEx27NM_001165963.3:c.4574G>Ap.Arg1525Gln | p.R1525QLRG_8t1:c.4541G>A, NM_001165963.1:c.4574G>A, NM_001165964.1:c.4490G>A, NM_001202435.1:c.4574G>A, NM_006920.4:c.4541G>AVOUS11/02/2020
191SCN1AEx29NM_001165963.3:c.5141T>Cp.Met1714Thr | p.M1714TLRG_8t1:c.5108T>C, NM_001165963.1:c.5141T>C, NM_001165964.1:c.5057T>C, NM_001202435.1:c.5141T>C, NM_006920.4:c.5108T>CVOUS11/03/2020
192SCN1AEx29NM_001165963.3:c.5568G>Ap.Met1856Ile | p.M1856ILRG_8t1:c.5535G>A, NM_001165963.1:c.5568G>A, NM_001165964.1:c.5484G>A, NM_001202435.1:c.5568G>A, NM_006920.4:c.5535G>AVOUS06/15/2020

* 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.