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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  
1SCN8AEx12NM_014191.2:c.1677C>Tp.His559= | p.H559=NM_001177984.1:c.1677C>T, NM_001177984.2:c.1677C>T, NM_014191.2:c.1677C>T, NM_014191.3:c.1677C>T, XM_005269075.1:c.1677C>TVOUS07/04/2014
2SCN8AEx2NM_014191.3:c.70A>Gp.Asn24Asp | p.N24DNM_001177984.1:c.70A>G, NM_001177984.2:c.70A>G, NM_014191.2:c.70A>G, NM_014191.3:c.70A>G, XM_005269075.1:c.70A>GVOUS10/23/2020
3SCN8AEx2NM_014191.3:c.141C>Tp.Asp47= | p.D47=NM_001177984.1:c.141C>T, NM_001177984.2:c.141C>T, NM_014191.2:c.141C>T, NM_014191.3:c.141C>T, XM_005269075.1:c.141C>TBenign05/27/2015 
4SCN8AEx2NM_014191.3:c.270G>Tp.Thr90= | p.T90=NM_001177984.1:c.270G>T, NM_001177984.2:c.270G>T, NM_014191.2:c.270G>T, NM_014191.3:c.270G>T, XM_005269075.1:c.270G>TVOUS01/20/2015
5SCN8AEx3NM_014191.3:c.302A>Gp.Lys101Arg | p.K101RNM_001177984.1:c.302A>G, NM_001177984.2:c.302A>G, NM_014191.2:c.302A>G, NM_014191.3:c.302A>G, XM_005269075.1:c.302A>GVOUS06/03/2014
6SCN8AEx4NM_014191.3:c.402T>Cp.Phe134= | p.F134=NM_001177984.1:c.402T>C, NM_001177984.2:c.402T>C, NM_014191.2:c.402T>C, NM_014191.3:c.402T>C, XM_005269075.1:c.402T>CVOUS11/09/2018
7SCN8AEx5NM_014191.3:c.486-1G>TNM_001177984.1:c.486-1G>T, NM_001177984.2:c.486-1G>T, NM_014191.2:c.486-1G>T, NM_014191.3:c.486-1G>T, XM_005269075.1:c.486-1G>TVOUS12/27/2018
8SCN8AEx5NM_014191.3:c.491C>Tp.Thr164Met | p.T164MNM_001177984.1:c.491C>T, NM_001177984.2:c.491C>T, NM_014191.2:c.491C>T, NM_014191.3:c.491C>T, XM_005269075.1:c.491C>TVOUS09/25/2014
9SCN8AEx5NM_014191.3:c.576C>Tp.Asp192= | p.D192=NM_001177984.1:c.576C>T, NM_001177984.2:c.576C>T, NM_014191.2:c.576C>T, NM_014191.3:c.576C>T, XM_005269075.1:c.576C>TBenign10/22/2014 
10SCN8AEx5NM_014191.3:c.605T>Ap.Ile202Asn | p.I202NNM_001177984.1:c.605T>A, NM_001177984.2:c.605T>A, NM_014191.2:c.605T>A, NM_014191.3:c.605T>A, XM_005269075.1:c.605T>AVOUS11/24/2015
11SCN8AEx6NM_014191.3:c.632T>Cp.Val211Ala | p.V211ANM_001177984.1:c.632T>C, NM_001177984.2:c.632T>C, NM_014191.2:c.632T>C, NM_014191.3:c.632T>C, XM_005269075.1:c.615-230T>CVOUS06/13/2017
12SCN8AEx7NM_014191.3:c.888C>Gp.Gly296= | p.G296=NM_001177984.1:c.888C>G, NM_001177984.2:c.888C>G, NM_014191.2:c.888C>G, NM_014191.3:c.888C>G, XM_005269075.1:c.888C>GVOUS09/21/2020
13SCN8AEx8NM_014191.3:c.929-4C>GNM_001177984.1:c.929-4C>G, NM_001177984.2:c.929-4C>G, NM_014191.2:c.929-4C>G, NM_014191.3:c.929-4C>G, XM_005269075.1:c.929-4C>GVOUS07/13/2015
14SCN8AEx8NM_014191.3:c.992+10T>AVOUS07/07/2020
15SCN8AEx10NM_014191.3:c.1217T>Ap.Ile406Asn | p.I406NNM_001177984.1:c.1217T>A, NM_001177984.2:c.1217T>A, NM_014191.2:c.1217T>A, NM_014191.3:c.1217T>A, XM_005269075.1:c.1217T>AVOUS07/05/2018
16SCN8AEx10NM_014191.3:c.1241A>Tp.Tyr414Phe | p.Y414FNM_001177984.1:c.1241A>T, NM_001177984.2:c.1241A>T, NM_014191.2:c.1241A>T, NM_014191.3:c.1241A>T, XM_005269075.1:c.1241A>TVOUS03/11/2015
17SCN8AEx10NM_014191.3:c.1341+9T>CVOUS06/23/2020
18SCN8AEx11NM_014191.3:c.1424G>Ap.Arg475Gln | p.R475QNM_001177984.1:c.1424G>A, NM_001177984.2:c.1424G>A, NM_014191.2:c.1424G>A, NM_014191.3:c.1424G>ALikely benign12/12/2014 
19SCN8AEx11NM_014191.3:c.1470A>Gp.Glu490= | p.E490=NM_001177984.1:c.1470A>G, NM_001177984.2:c.1470A>G, NM_014191.2:c.1470A>G, NM_014191.3:c.1470A>G, XM_005269075.1:c.1470A>GLikely benign02/04/2019 
20SCN8AEx11NM_014191.3:c.1570A>Gp.Met524Val | p.M524VNM_001177984.1:c.1570A>G, NM_001177984.2:c.1570A>G, NM_014191.2:c.1570A>G, NM_014191.3:c.1570A>G, XM_005269075.1:c.1570A>GVOUS11/20/2015
21SCN8AEx12NM_014191.3:c.1779G>Cp.Glu593Asp | p.E593DNM_001177984.1:c.1779G>C, NM_001177984.2:c.1779G>C, NM_014191.2:c.1779G>C, NM_014191.3:c.1779G>C, XM_005269075.1:c.1779G>CVOUS02/05/2021
22SCN8AEx12NM_014191.3:c.1819G>Ap.Ala607Thr | p.A607TNM_001177984.1:c.1819G>A, NM_001177984.2:c.1819G>A, NM_014191.2:c.1819G>A, NM_014191.3:c.1819G>A, XM_005269075.1:c.1819G>AVOUS09/05/2019
23SCN8AEx12NM_014191.3:c.1833G>Tp.Arg611= | p.R611=NM_001177984.1:c.1833G>T, NM_001177984.2:c.1833G>T, NM_014191.2:c.1833G>T, NM_014191.3:c.1833G>T, XM_005269075.1:c.1833G>TBenign11/25/2014 
24SCN8AEx12NM_014191.3:c.1855_1863delGGCTACAGCp.Gly619_Ser621del | p.G619_S621delNM_001177984.1:c.1855_1863delGGCTACAGC, NM_001177984.2:c.1855_1863delGGCTACAGC, NM_014191.2:c.1855_1863delGGCTACAGC, NM_014191.3:c.1855_1863delGGCTACAGC, XM_005269075.1:c.1855_1863delGGCTACAGCVOUS01/16/2018
25SCN8AEx13NM_014191.3:c.2058C>Gp.Asp686Glu | p.D686ENM_001177984.1:c.2058C>G, NM_001177984.2:c.2058C>G, NM_014191.2:c.2058C>G, NM_014191.3:c.2058C>G, XM_005269075.1:c.2091C>GVOUS03/07/2019
26SCN8AEx13NM_014191.3:c.2069C>Tp.Ser690Phe | p.S690FNM_001177984.1:c.2069C>T, NM_001177984.2:c.2069C>T, NM_014191.2:c.2069C>T, NM_014191.3:c.2069C>T, XM_005269075.1:c.2102C>TVOUS05/04/2020
27SCN8AEx13NM_014191.3:c.2073C>Tp.Tyr691= | p.Y691=NM_001177984.1:c.2073C>T, NM_001177984.2:c.2073C>T, NM_014191.2:c.2073C>T, NM_014191.3:c.2073C>T, XM_005269075.1:c.2106C>TVOUS05/04/2015
28SCN8AEx13NM_014191.3:c.2098A>Tp.Ile700Leu | p.I700LNM_001177984.1:c.2098A>T, NM_001177984.2:c.2098A>T, NM_014191.2:c.2098A>T, NM_014191.3:c.2098A>T, XM_005269075.1:c.2131A>TBenign05/15/2015 
29SCN8AEx13NM_014191.3:c.2109T>Cp.Val703= | p.V703=NM_001177984.1:c.2109T>C, NM_001177984.2:c.2109T>C, NM_014191.2:c.2109T>C, NM_014191.3:c.2109T>C, XM_005269075.1:c.2142T>CLikely benign04/02/2019 
30SCN8AEx14NM_014191.3:c.2263G>Cp.Val755Leu | p.V755LNM_001177984.1:c.2263G>C, NM_001177984.2:c.2263G>C, NM_014191.2:c.2263G>C, NM_014191.3:c.2263G>C, XM_005269075.1:c.2296G>CVOUS04/16/2020
31SCN8AEx14NM_014191.3:c.2287A>Gp.Ile763Val | p.I763VNM_001177984.1:c.2287A>G, NM_001177984.2:c.2287A>G, NM_014191.2:c.2287A>G, NM_014191.3:c.2287A>G, XM_005269075.1:c.2320A>GLikely pathogenic05/04/2020 
32SCN8AEx15NM_014191.3:c.2371-6A>GNM_001177984.1:c.2371-6A>G, NM_001177984.2:c.2371-6A>G, NM_014191.2:c.2371-6A>G, NM_014191.3:c.2371-6A>G, XM_005269075.1:c.2404-6A>GBenign09/22/2015 
33SCN8AEx15NM_014191.3:c.2543T>Gp.Leu848Trp | p.L848WNM_001177984.1:c.2543T>G, NM_001177984.2:c.2543T>G, NM_014191.2:c.2543T>G, NM_014191.3:c.2543T>G, XM_005269075.1:c.2576T>GLikely pathogenic04/25/2020 
34SCN8AEx16NM_014191.3:c.2632C>Tp.Leu878= | p.L878=NM_001177984.1:c.2632C>T, NM_001177984.2:c.2632C>T, NM_014191.2:c.2632C>T, NM_014191.3:c.2632C>T, XM_005269075.1:c.2665C>TBenign02/06/2015 
35SCN8AEx16NM_014191.3:c.2670C>Tp.Ala890= | p.A890=NM_001177984.1:c.2670C>T, NM_001177984.2:c.2670C>T, NM_014191.2:c.2670C>T, NM_014191.3:c.2670C>T, XM_005269075.1:c.2703C>TVOUS02/26/2020
36SCN8AEx16NM_014191.3:c.2733C>Tp.Asp911= | p.D911=NM_001177984.1:c.2733C>T, NM_001177984.2:c.2733C>T, NM_014191.2:c.2733C>T, NM_014191.3:c.2733C>T, XM_005269075.1:c.2766C>TVOUS10/12/2016
37SCN8AEx17NM_014191.3:c.3060G>Ap.Gln1020= | p.Q1020=NM_001177984.1:c.3060G>A, NM_001177984.2:c.3060G>A, NM_014191.2:c.3060G>A, NM_014191.3:c.3060G>AVOUS04/16/2014
38SCN8AEx17NM_014191.3:c.3135C>Tp.Ile1045= | p.I1045=NM_001177984.1:c.3135C>T, NM_001177984.2:c.3135C>T, NM_014191.2:c.3135C>T, NM_014191.3:c.3135C>T, XM_005269075.1:c.3168C>TVOUS06/22/2018
39SCN8AEx17NM_014191.3:c.3204C>Tp.Ser1068= | p.S1068=NM_001177984.1:c.3204C>T, NM_001177984.2:c.3204C>T, NM_014191.2:c.3204C>T, NM_014191.3:c.3204C>T, XM_005269075.1:c.3237C>TVOUS05/26/2016
40SCN8AEx17NM_014191.3:c.3295G>Ap.Ala1099Thr | p.A1099TNM_001177984.1:c.3295G>A, NM_001177984.2:c.3295G>A, NM_014191.2:c.3295G>A, NM_014191.3:c.3295G>A, XM_005269075.1:c.3328G>AVOUS07/25/2019
41SCN8AEx19NM_014191.3:c.3640G>Ap.Ala1214Thr | p.A1214TNM_001177984.1:c.3640G>A, NM_001177984.2:c.3640G>A, NM_014191.2:c.3640G>A, NM_014191.3:c.3640G>A, XM_005269075.1:c.3673G>AVOUS03/31/2016
42SCN8AEx20NM_014191.3:c.3769G>Ap.Val1257Ile | p.V1257INM_001177984.1:c.3769G>A, NM_001177984.2:c.3769G>A, NM_014191.2:c.3769G>A, NM_014191.3:c.3769G>A, XM_005269075.1:c.3802G>AVOUS08/26/2020
43SCN8AEx21NM_014191.3:c.3820-7T>CNM_001177984.1:c.3820-5900T>C, NM_001177984.2:c.3820-5900T>C, NM_014191.2:c.3820-7T>C, NM_014191.3:c.3820-7T>C, XM_005269075.1:c.3853-7T>CVOUS01/09/2019
44SCN8AEx21NM_014191.3:c.3822C>Tp.Val1274= | p.V1274=NM_001177984.1:c.3820-5891C>T, NM_001177984.2:c.3820-5891C>T, NM_014191.2:c.3822C>T, NM_014191.3:c.3822C>T, XM_005269075.1:c.3855C>TLikely benign01/16/2018 
45SCN8AEx22NM_014191.3:c.3967G>Ap.Ala1323Thr | p.A1323TNM_001177984.1:c.3844G>A, NM_001177984.2:c.3844G>A, NM_014191.2:c.3967G>A, NM_014191.3:c.3967G>A, XM_005269075.1:c.4000G>APathogenic01/30/2018 
46SCN8AEx22NM_014191.3:c.3985A>Gp.Asn1329Asp | p.N1329DNM_001177984.1:c.3862A>G, NM_001177984.2:c.3862A>G, NM_014191.2:c.3985A>G, NM_014191.3:c.3985A>G, XM_005269075.1:c.4018A>GLikely pathogenic08/10/2015 
47SCN8AEx22NM_014191.3:c.4155A>Cp.Thr1385= | p.T1385=NM_001177984.1:c.4032A>C, NM_001177984.2:c.4032A>C, NM_014191.2:c.4155A>C, NM_014191.3:c.4155A>C, XM_005269075.1:c.4188A>CVOUS01/14/2016
48SCN8AEx23NM_014191.3:c.4278G>Ap.Arg1426= | p.R1426=NM_001177984.1:c.4155G>A, NM_001177984.2:c.4155G>A, NM_014191.2:c.4278G>A, NM_014191.3:c.4278G>A, XM_005269075.1:c.4311G>ABenign06/02/2016 
49SCN8AEx25NM_014191.3:c.4498C>Tp.Pro1500Ser | p.P1500SNM_001177984.1:c.4375C>T, NM_001177984.2:c.4375C>T, NM_014191.2:c.4498C>T, NM_014191.3:c.4498C>T, XM_005269075.1:c.4531C>TVOUS04/18/2019
50SCN8AEx26NM_014191.3:c.4719G>Ap.Met1573Ile | p.M1573INM_001177984.1:c.4596G>A, NM_001177984.2:c.4596G>A, NM_014191.2:c.4719G>A, NM_014191.3:c.4719G>A, XM_005269075.1:c.4752G>AVOUS05/22/2017
51SCN8AEx27NM_014191.3:c.*3_*5delGAGNM_001177984.1:c.*3_*5delGAG, NM_001177984.2:c.*3_*5delGAG, NM_014191.2:c.*3_*5delGAG, NM_014191.3:c.*3_*5delGAG, XM_005269075.1:c.*3_*5delGAG, XR_078465.1:n.-1943_-1941delGAG, XR_110352.1:n.-2573_-2571delGAGLikely benign11/25/2014 
52SCN8AEx27NM_014191.3:c.4873_4881dupGGGCGCATCp.Gly1625_Ile1627dup | p.G1625_I1627dupNM_001177984.1:c.4750_4758dupGGGCGCATC, NM_001177984.2:c.4750_4758dupGGGCGCATC, NM_014191.2:c.4873_4881dupGGGCGCATC, NM_014191.3:c.4873_4881dupGGGCGCATC, XM_005269075.1:c.4906_4914dupGGGCGCATC, XR_078465.1:n.-3016_-3008dupGGGCGCATC, XR_110352.1:n.-3646_-3638dupGGGCGCATCLikely pathogenic03/06/2019 
53SCN8AEx27NM_014191.3:c.4877G>Ap.Arg1626His | p.R1626HNM_001177984.1:c.4754G>A, NM_001177984.2:c.4754G>A, NM_014191.2:c.4877G>A, NM_014191.3:c.4877G>A, XM_005269075.1:c.4910G>A, XR_078465.1:n.-3012G>A, XR_110352.1:n.-3642G>AVOUS08/09/2016
54SCN8AEx27NM_014191.3:c.5152C>Tp.Pro1718Ser | p.P1718SNM_001177984.1:c.5029C>T, NM_001177984.2:c.5029C>T, NM_014191.2:c.5152C>T, NM_014191.3:c.5152C>T, XM_005269075.1:c.5185C>T, XR_078465.1:n.-2737C>T, XR_110352.1:n.-3367C>TVOUS09/08/2014
55SCN8AEx27NM_014191.3:c.5366A>Gp.Tyr1789Cys | p.Y1789CNM_001177984.1:c.5243A>G, NM_001177984.2:c.5243A>G, NM_014191.2:c.5366A>G, NM_014191.3:c.5366A>G, XM_005269075.1:c.5399A>G, XR_078465.1:n.-2523A>G, XR_110352.1:n.-3153A>GVOUS03/27/2017
56SCN8AEx27NM_014191.3:c.5472C>Ap.Pro1824= | p.P1824=NM_001177984.1:c.5349C>A, NM_001177984.2:c.5349C>A, NM_014191.2:c.5472C>A, NM_014191.3:c.5472C>A, XM_005269075.1:c.5505C>A, XR_078465.1:n.-2417C>A, XR_110352.1:n.-3047C>ABenign01/12/2016 
57SCN8AEx27NM_014191.3:c.5577C>Tp.Ser1859= | p.S1859=NM_001177984.1:c.5454C>T, NM_001177984.2:c.5454C>T, NM_014191.2:c.5577C>T, NM_014191.3:c.5577C>T, XM_005269075.1:c.5610C>T, XR_078465.1:n.-2312C>T, XR_110352.1:n.-2942C>TVOUS05/28/2020
58SCN8AEx27NM_014191.3:c.5601G>Ap.Gln1867= | p.Q1867=NM_001177984.1:c.5478G>A, NM_001177984.2:c.5478G>A, NM_014191.2:c.5601G>A, NM_014191.3:c.5601G>A, XM_005269075.1:c.5634G>A, XR_078465.1:n.-2288G>A, XR_110352.1:n.-2918G>ALikely benign03/12/2018 
59SCN8AEx27NM_014191.3:c.5630A>Gp.Asn1877Ser | p.N1877SNM_001177984.1:c.5507A>G, NM_001177984.2:c.5507A>G, NM_014191.2:c.5630A>G, NM_014191.3:c.5630A>G, XM_005269075.1:c.5663A>G, XR_078465.1:n.-2259A>G, XR_110352.1:n.-2889A>GVOUS01/12/2016
60SCN8AEx27NM_014191.3:c.5735G>Ap.Arg1912Lys | p.R1912KNM_001177984.1:c.5612G>A, NM_001177984.2:c.5612G>A, NM_014191.2:c.5735G>A, NM_014191.3:c.5735G>A, XM_005269075.1:c.5768G>A, XR_078465.1:n.-2154G>A, XR_110352.1:n.-2784G>AVOUS07/07/2020
61SCN8AEx27NM_014191.3:c.5761A>Cp.Thr1921Pro | p.T1921PNM_001177984.1:c.5638A>C, NM_001177984.2:c.5638A>C, NM_014191.2:c.5761A>C, NM_014191.3:c.5761A>C, XM_005269075.1:c.5794A>C, XR_078465.1:n.-2128A>C, XR_110352.1:n.-2758A>CVOUS10/11/2019
62SCN8AEx27NM_014191.3:c.5879G>Ap.Arg1960Gln | p.R1960QNM_001177984.1:c.5756G>A, NM_001177984.2:c.5756G>A, NM_014191.2:c.5879G>A, NM_014191.3:c.5879G>A, XM_005269075.1:c.5912G>A, XR_078465.1:n.-2010G>A, XR_110352.1:n.-2640G>AVOUS08/01/2016

* 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.