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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  
1SCN9AEx3NM_002977.3:c.328T>Cp.Ser110Pro | p.S110PLRG_369t1:c.328T>C, NM_002977.2:c.328T>C, NM_002977.3:c.328T>C, XM_005246757.1:c.328T>CVOUS12/27/2018
2SCN9AEx5NM_002977.3:c.554G>Ap.Arg185His | p.R185HNM_002977.2:c.554G>A, NM_002977.3:c.554G>A, XM_005246757.1:c.554G>A, XR_241346.1:n.*4050C>TLikely benign02/05/2015 
3SCN9AEx6NM_002977.3:c.642A>Gp.Arg214= | p.R214=LRG_369t1:c.642A>G, NM_002977.2:c.642A>G, NM_002977.3:c.642A>G, XM_005246757.1:c.642A>G, XR_241346.1:n.*2500T>CVOUS11/15/2016
4SCN9AEx6NM_002977.3:c.684C>Gp.Ile228Met | p.I228MLRG_369t1:c.684C>G, NM_002977.2:c.684C>G, NM_002977.3:c.684C>G, XM_005246757.1:c.684C>G, XR_241346.1:n.*2458G>CVOUS06/09/2020
5SCN9AEx6NM_002977.3:c.688+9T>CNM_002977.2:c.688+9T>C, NM_002977.3:c.688+9T>C, XM_005246757.1:c.688+9T>C, XR_241346.1:n.*2445A>GVOUS04/17/2017
6SCN9AEx7NM_002977.3:c.689-6T>CLRG_369t1:c.689-6T>C, NM_002977.2:c.689-6T>C, NM_002977.3:c.689-6T>C, XM_005246757.1:c.689-6T>C, XR_241346.1:n.*1524A>GVOUS05/01/2017
7SCN9AEx7NM_002977.3:c.861A>Gp.Glu287= | p.E287=LRG_369t1:c.861A>G, NM_002977.2:c.861A>G, NM_002977.3:c.861A>G, XM_005246757.1:c.861A>G, XR_241346.1:n.*1346T>CVOUS04/18/2017
8SCN9AEx10NM_002977.3:c.1109C>Tp.Thr370Met | p.T370MNM_002977.2:c.1109C>T, NM_002977.3:c.1109C>T, XM_005246757.1:c.1109C>T, XR_241346.1:n.1030-5923G>AVOUS12/20/2016
9SCN9AEx10NM_002977.3:c.1119T>Cp.Ala373= | p.A373=NM_002977.2:c.1119T>C, NM_002977.3:c.1119T>C, XM_005246757.1:c.1119T>C, XR_241346.1:n.1030-5933A>GBenign02/24/2015 
10SCN9AEx10NM_002977.3:c.1135A>Gp.Met379Val | p.M379VLRG_369t1:c.1135A>G, NM_002977.2:c.1135A>G, NM_002977.3:c.1135A>G, XM_005246757.1:c.1135A>G, XR_241346.1:n.1030-5949T>CVOUS03/11/2019
11SCN9AEx10NM_002977.3:c.1149C>Tp.Val383= | p.V383=NM_002977.2:c.1149C>T, NM_002977.3:c.1149C>T, XM_005246757.1:c.1149C>T, XR_241346.1:n.1030-5963G>AVOUS05/22/2015
12SCN9AEx10NM_002977.3:c.1155G>Tp.Val385= | p.V385=NM_002977.2:c.1155G>T, NM_002977.3:c.1155G>T, XM_005246757.1:c.1155G>T, XR_241346.1:n.1030-5969C>ABenign09/10/2015 
13SCN9AEx10NM_002977.3:c.1177C>Tp.Leu393= | p.L393=LRG_369t1:c.1177C>T, NM_002977.2:c.1177C>T, NM_002977.3:c.1177C>T, XM_005246757.1:c.1177C>T, XR_241346.1:n.1030-5991G>AVOUS05/24/2019
14SCN9AEx10NM_002977.3:c.1238T>Cp.Ile413Thr | p.I413TNM_002977.2:c.1238T>C, NM_002977.3:c.1238T>C, XM_005246757.1:c.1238T>C, XR_241346.1:n.1030-6052A>GVOUS01/30/2015
15SCN9AEx10NM_002977.3:c.1266A>Gp.Glu422= | p.E422=NM_002977.2:c.1266A>G, NM_002977.3:c.1266A>G, XM_005246757.1:c.1266A>G, XR_241346.1:n.1030-6080T>CBenign02/24/2015 
16SCN9AEx10NM_002977.3:c.1286G>Ap.Arg429His | p.R429HLRG_369t1:c.1286G>A, NM_002977.2:c.1286G>A, NM_002977.3:c.1286G>A, XM_005246757.1:c.1286G>A, XR_241346.1:n.1030-6100C>TVOUS01/08/2017
17SCN9AEx10NM_002977.3:c.1287T>Ap.Arg429= | p.R429=NM_002977.2:c.1287T>A, NM_002977.3:c.1287T>A, XM_005246757.1:c.1287T>A, XR_241346.1:n.1030-6101A>TBenign07/04/2014 
18SCN9AEx10NM_002977.3:c.1314+7T>CNM_002977.2:c.1314+7T>C, NM_002977.3:c.1314+7T>C, XM_005246757.1:c.1314+7T>C, XR_241346.1:n.1030-6135A>GVOUS07/04/2014
19SCN9AEx11NM_002977.3:c.1326G>Ap.Ala442= | p.A442=NM_002977.2:c.1326G>A, NM_002977.3:c.1326G>A, XM_005246757.1:c.1326G>A, XR_241346.1:n.1030-7953C>TVOUS06/02/2015
20SCN9AEx11NM_002977.3:c.1398C>Tp.Ser466= | p.S466=NM_002977.2:c.1398C>T, NM_002977.3:c.1398C>TBenign04/09/2014 
21SCN9AEx11NM_002977.3:c.1464C>Tp.Leu488= | p.L488=LRG_369t1:c.1464C>T, NM_002977.2:c.1464C>T, NM_002977.3:c.1464C>T, XM_005246757.1:c.1464C>T, XR_241346.1:n.1030-8091G>AVOUS09/14/2017
22SCN9AEx11NM_002977.3:c.1469G>Ap.Ser490Asn | p.S490NNM_002977.2:c.1469G>A, NM_002977.3:c.1469G>A, XM_005246757.1:c.1469G>A, XR_241346.1:n.1030-8096C>TBenign05/22/2014 
23SCN9AEx11NM_002977.3:c.1554C>Tp.Val518= | p.V518=LRG_369t1:c.1554C>T, NM_002977.2:c.1554C>T, NM_002977.3:c.1554C>T, XM_005246757.1:c.1554C>T, XR_241346.1:n.1030-8181G>AVOUS10/28/2019
24SCN9AEx11NM_002977.3:c.1555G>Ap.Glu519Lys | p.E519KNM_002977.2:c.1555G>A, NM_002977.3:c.1555G>A, XM_005246757.1:c.1555G>A, XR_241346.1:n.1030-8182C>TVOUS09/09/2015
25SCN9AEx12NM_002977.3:c.1619G>Ap.Arg540His | p.R540HLRG_369t1:c.1619G>A, NM_002977.2:c.1619G>A, NM_002977.3:c.1619G>A, XM_005246757.1:c.1619G>A, XR_241346.1:n.1029+7561C>TVOUS12/27/2019
26SCN9AEx12NM_002977.3:c.1714G>Ap.Asp572Asn | p.D572NLRG_369t1:c.1714G>A, NM_002977.2:c.1714G>A, NM_002977.3:c.1714G>A, XM_005246757.1:c.1714G>A, XR_241346.1:n.1029+7466C>TVOUS11/14/2017
27SCN9AEx12NM_002977.3:c.1744G>Ap.Glu582Lys | p.E582KLRG_369t1:c.1744G>A, NM_002977.2:c.1744G>A, NM_002977.3:c.1744G>A, XM_005246757.1:c.1744G>A, XR_241346.1:n.1029+7436C>TVOUS03/01/2021
28SCN9AEx12NM_002977.3:c.1828C>Ap.Pro610Thr | p.P610TNM_002977.2:c.1828C>A, NM_002977.3:c.1828C>A, XR_241346.1:n.1029+7352G>TBenign04/30/2014 
29SCN9AEx12NM_002977.3:c.1846G>Ap.Gly616Arg | p.G616RLRG_369t1:c.1846G>A, NM_002977.2:c.1846G>A, NM_002977.3:c.1846G>A, XM_005246757.1:c.1846G>A, XR_241346.1:n.1029+7334C>TVOUS05/28/2019
30SCN9AEx13NM_002977.3:c.1942-8T>ALRG_369t1:c.1942-8T>A, NM_002977.2:c.1942-8T>A, NM_002977.3:c.1942-8T>A, XM_005246757.1:c.1975-8T>A, XR_241346.1:n.1029+4569A>TVOUS12/18/2018
31SCN9AEx13NM_002977.3:c.1942-3delTNM_002977.2:c.1942-3delT, NM_002977.3:c.1942-3delT, XM_005246757.1:c.1975-3delT, XR_241346.1:n.1029+4564delABenign01/07/2015 
32SCN9AEx13NM_002977.3:c.1942-3dupTNM_002977.2:c.1942-3dup, NM_002977.3:c.1942-3dupBenign03/12/2014 
33SCN9AEx13NM_002977.3:c.1947G>Ap.Thr649= | p.T649=LRG_369t1:c.1947G>A, NM_002977.2:c.1947G>A, NM_002977.3:c.1947G>A, XM_005246757.1:c.1980G>A, XR_241346.1:n.1029+4556C>TVOUS12/15/2016
34SCN9AEx13NM_002977.3:c.1964A>Gp.Lys655Arg | p.K655RNM_002977.2:c.1964A>G, NM_002977.3:c.1964A>G, XR_241346.1:n.1029+4539T>CLikely benign04/15/2014 
35SCN9AEx13NM_002977.3:c.1973G>Ap.Arg658His | p.R658HLRG_369t1:c.1973G>A, NM_002977.2:c.1973G>A, NM_002977.3:c.1973G>A, XM_005246757.1:c.2006G>A, XR_241346.1:n.1029+4530C>TVOUS10/05/2017
36SCN9AEx13NM_002977.3:c.2052A>Gp.Ile684Met | p.I684MLRG_369t1:c.2052A>G, NM_002977.2:c.2052A>G, NM_002977.3:c.2052A>G, XM_005246757.1:c.2085A>G, XR_241346.1:n.1029+4451T>CVOUS02/20/2017
37SCN9AEx13NM_002977.3:c.2071+7A>GNM_002977.2:c.2071+7A>G, NM_002977.3:c.2071+7A>G, XM_005246757.1:c.2104+7A>G, XR_241346.1:n.1029+4425T>CVOUS11/06/2015
38SCN9AEx14NM_002977.3:c.2072-15G>ANM_002977.2:c.2072-15G>A, NM_002977.3:c.2072-15G>ABenign03/20/2014 
39SCN9AEx14NM_002977.3:c.2072-14C>TNM_002977.2:c.2072-14C>T, NM_002977.3:c.2072-14C>T, XR_241346.1:n.1029+3362G>ABenign07/24/2017 
40SCN9AEx14NM_002977.3:c.2072-8T>ALRG_369t1:c.2072-8T>A, NM_002977.2:c.2072-8T>A, NM_002977.3:c.2072-8T>A, XM_005246757.1:c.2105-8T>A, XR_241346.1:n.1029+3356A>TVOUS07/24/2017
41SCN9AEx14NM_002977.3:c.2159T>Ap.Ile720Lys | p.I720KLRG_369t1:c.2159T>A, NM_002977.2:c.2159T>A, NM_002977.3:c.2159T>A, XM_005246757.1:c.2192T>A, XR_241346.1:n.1029+3261A>TVOUS07/14/2019
42SCN9AEx14NM_002977.3:c.2187T>Gp.Ile729Met | p.I729MLRG_369t1:c.2187T>G, NM_002977.2:c.2187T>G, NM_002977.3:c.2187T>G, XM_005246757.1:c.2220T>G, XR_241346.1:n.1029+3233A>CVOUS08/26/2016
43SCN9AEx14NM_002977.3:c.2215A>Gp.Ile739Val | p.I739VNM_002977.2:c.2215A>G, NM_002977.3:c.2215A>G, XM_005246757.1:c.2248A>G, XR_241346.1:n.1029+3205T>CLikely benign07/20/2017 
44SCN9AEx15NM_002977.3:c.2359A>Gp.Met787Val | p.M787VNM_002977.2:c.2359A>G, NM_002977.3:c.2359A>G, XM_005246757.1:c.2392A>G, XR_241346.1:n.1029+1018T>CBenign03/19/2015 
45SCN9AEx15NM_002977.3:c.2376T>Cp.Tyr792= | p.Y792=LRG_369t1:c.2376T>C, NM_002977.2:c.2376T>C, NM_002977.3:c.2376T>C, XM_005246757.1:c.2409T>C, XR_241346.1:n.1029+1001A>GBenign08/26/2016 
46SCN9AEx15NM_002977.3:c.2389T>Cp.Trp797Arg | p.W797RLRG_369t1:c.2389T>C, NM_002977.2:c.2389T>C, NM_002977.3:c.2389T>C, XM_005246757.1:c.2422T>C, XR_241346.1:n.1029+988A>GVOUS01/17/2017
47SCN9AEx15NM_002977.3:c.2404A>Gp.Ser802Gly | p.S802GLRG_369t1:c.2404A>G, NM_002977.2:c.2404A>G, NM_002977.3:c.2404A>G, XM_005246757.1:c.2437A>G, XR_241346.1:n.1029+973T>CBenign05/06/2019 
48SCN9AEx16NM_002977.3:c.2616C>Tp.Val872= | p.V872=NM_002977.2:c.2616C>T, NM_002977.3:c.2616C>T, XM_005246757.1:c.2649C>T, XR_241346.1:n.990G>AVOUS11/12/2015
49SCN9AEx16NM_002977.3:c.2733C>Tp.Arg911= | p.R911=LRG_369t1:c.2733C>T, NM_002977.2:c.2733C>T, NM_002977.3:c.2733C>T, XM_005246757.1:c.2766C>T, XR_241346.1:n.873G>ALikely benign06/11/2019 
50SCN9AEx16NM_002977.3:c.2794A>Cp.Met932Leu | p.M932LNM_002977.2:c.2794A>C, NM_002977.3:c.2794A>C, XM_005246757.1:c.2827A>C, XR_241346.1:n.870-58T>GBenign09/25/2013 
51SCN9AEx16NM_002977.3:c.2819T>Cp.Val940Ala | p.V940ALRG_369t1:c.2819T>C, NM_002977.2:c.2819T>C, NM_002977.3:c.2819T>C, XM_005246757.1:c.2852T>C, XR_241346.1:n.870-83A>GVOUS07/30/2019
52SCN9AEx16NM_002977.3:c.2841+4T>CLRG_369t1:c.2841+4T>C, NM_002977.2:c.2841+4T>C, NM_002977.3:c.2841+4T>C, XM_005246757.1:c.2874+4T>C, XR_241346.1:n.870-109A>GVOUS06/12/2018
53SCN9AEx17NM_002977.3:c.2931C>Tp.Leu977= | p.L977=LRG_369t1:c.2931C>T, NM_002977.2:c.2931C>T, NM_002977.3:c.2931C>T, XM_005246757.1:c.2964C>T, XR_241346.1:n.870-4302G>AVOUS08/25/2017
54SCN9AEx17NM_002977.3:c.2969A>Gp.Tyr990Cys | p.Y990CNM_002977.2:c.2969A>G, NM_002977.3:c.2969A>G, XR_241346.1:n.870-4340T>CVOUS11/03/2016
55SCN9AEx17NM_002977.3:c.2971G>Tp.Val991Leu | p.V991LLRG_369t1:c.2971G>T, NM_002977.2:c.2971G>T, NM_002977.3:c.2971G>T, XM_005246757.1:c.3004G>T, XR_241346.1:n.870-4342C>ABenign10/24/2019 
56SCN9AEx17NM_002977.3:c.2987G>Ap.Arg996His | p.R996HLRG_369t1:c.2987G>A, NM_002977.2:c.2987G>A, NM_002977.3:c.2987G>A, XM_005246757.1:c.3020G>A, XR_241346.1:n.870-4358C>TLikely benign08/08/2017 
57SCN9AEx17NM_002977.3:c.3018G>Cp.Lys1006Asn | p.K1006NNM_002977.2:c.3018G>C, NM_002977.3:c.3018G>C, XM_005246757.1:c.3051G>C, XR_241346.1:n.870-4389C>GVOUS07/28/2017
58SCN9AEx17NM_002977.3:c.3124C>Tp.Leu1042Phe | p.L1042FNM_002977.2:c.3124C>T, NM_002977.3:c.3124C>T, XM_005246757.1:c.3157C>T, XR_241346.1:n.870-4495G>AVOUS12/18/2014
59SCN9AEx17NM_002977.3:c.3162C>Tp.Ser1054= | p.S1054=LRG_369t1:c.3162C>T, NM_002977.2:c.3162C>T, NM_002977.3:c.3162C>T, XM_005246757.1:c.3195C>T, XR_241346.1:n.870-4533G>AVOUS06/13/2018
60SCN9AEx17NM_002977.3:c.3296C>Tp.Ser1099Leu | p.S1099LLRG_369t1:c.3296C>T, NM_002977.2:c.3296C>T, NM_002977.3:c.3296C>T, XM_005246757.1:c.3329C>T, XR_241346.1:n.870-4667G>AVOUS12/27/2016
61SCN9AEx17NM_002977.3:c.3316G>Tp.Val1106Leu | p.V1106LNM_002977.2:c.3316G>T, NM_002977.3:c.3316G>T, XM_005246757.1:c.3349G>T, XR_241346.1:n.870-4687C>AVOUS01/10/2019
62SCN9AEx18NM_002977.3:c.3328C>Tp.Arg1110Trp | p.R1110WNM_002977.2:c.3328C>T, NM_002977.3:c.3328C>T, XM_005246757.1:c.3361C>T, XR_241346.1:n.833G>ABenign12/02/2014 
63SCN9AEx18NM_002977.3:c.3369G>Tp.Leu1123Phe | p.L1123FLRG_369t1:c.3369G>T, NM_002977.2:c.3369G>T, NM_002977.3:c.3369G>T, XM_005246757.1:c.3402G>T, XR_241346.1:n.792C>AVOUS12/18/2018
64SCN9AEx18NM_002977.3:c.3370C>Tp.Pro1124Ser | p.P1124SNM_002977.2:c.3370C>T, NM_002977.3:c.3370C>TVOUS04/15/2014
65SCN9AEx18NM_002977.3:c.3431T>Ap.Phe1144Tyr | p.F1144YLRG_369t1:c.3431T>A, NM_002977.2:c.3431T>A, NM_002977.3:c.3431T>A, XM_005246757.1:c.3464T>A, XR_241346.1:n.736-6A>TVOUS07/29/2016
66SCN9AEx19NM_002977.3:c.3473A>Cp.Asn1158Thr | p.N1158TNM_002977.2:c.3473A>C, NM_002977.3:c.3473A>C, XM_005246757.1:c.3506A>C, XR_241346.1:n.612-5572T>GBenign04/02/2015 
67SCN9AEx19NM_002977.3:c.3476T>Cp.Ile1159Thr | p.I1159TLRG_369t1:c.3476T>C, NM_002977.2:c.3476T>C, NM_002977.3:c.3476T>C, XM_005246757.1:c.3509T>C, XR_241346.1:n.612-5575A>GVOUS03/07/2019
68SCN9AEx20NM_002977.3:c.3642C>Ap.Ile1214= | p.I1214=NM_002977.2:c.3642C>A, NM_002977.3:c.3642C>A, XM_005246757.1:c.3675C>A, XR_241346.1:n.612-9975G>TBenign03/19/2015 
69SCN9AEx20NM_002977.3:c.3651T>Cp.Tyr1217= | p.Y1217=NM_002977.2:c.3651T>C, NM_002977.3:c.3651T>C, XM_005246757.1:c.3684T>C, XR_241346.1:n.612-9984A>GVOUS01/23/2015
70SCN9AEx20NM_002977.3:c.3726T>Cp.Tyr1242= | p.Y1242=LRG_369t1:c.3726T>C, NM_002977.2:c.3726T>C, NM_002977.3:c.3726T>C, XM_005246757.1:c.3759T>C, XR_241346.1:n.612-10059A>GVOUS04/03/2018
71SCN9AEx20NM_002977.3:c.3734A>Gp.Asn1245Ser | p.N1245SNM_002977.2:c.3734A>G, NM_002977.3:c.3734A>G, XM_005246757.1:c.3767A>G, XR_241346.1:n.612-10067T>CLikely benign11/11/2014 
72SCN9AEx21NM_002977.3:c.3769-4A>GNM_002977.2:c.3769-4A>G, NM_002977.3:c.3769-4A>GBenign04/04/2014 
73SCN9AEx21NM_002977.3:c.3799C>Gp.Leu1267Val | p.L1267VNM_002977.2:c.3799C>G, NM_002977.3:c.3799C>G, XR_241346.1:n.612-14763G>CLikely benign04/24/2015 
74SCN9AEx22NM_002977.3:c.4040G>Ap.Arg1347Gln | p.R1347QNM_002977.2:c.4040G>A, NM_002977.3:c.4040G>A, XM_005246757.1:c.4073G>A, XR_241346.1:n.612-19371C>TVOUS09/05/2017
75SCN9AEx22NM_002977.3:c.4077T>Cp.Cys1359= | p.C1359=NM_002977.2:c.4077T>C, NM_002977.3:c.4077T>C, XM_005246757.1:c.4110T>C, XR_241346.1:n.612-19408A>GVOUS01/28/2016
76SCN9AEx22NM_002977.3:c.4164G>Ap.Leu1388= | p.L1388=LRG_369t1:c.4164G>A, NM_002977.2:c.4164G>A, NM_002977.3:c.4164G>A, XM_005246757.1:c.4197G>A, XR_241346.1:n.612-19495C>TVOUS11/22/2016
77SCN9AEx23NM_002977.3:c.4193C>Tp.Thr1398Met | p.T1398MLRG_369t1:c.4193C>T, NM_002977.2:c.4193C>T, NM_002977.3:c.4193C>T, XM_005246757.1:c.4226C>T, XR_241346.1:n.612-20491G>AVOUS11/21/2018
78SCN9AEx24NM_002977.3:c.4272T>Gp.Ile1424Met | p.I1424MLRG_369t1:c.4272T>G, NM_002977.2:c.4272T>G, NM_002977.3:c.4272T>G, XM_005246757.1:c.4305T>G, XR_241346.1:n.612-21535A>CVOUS03/22/2021
79SCN9AEx24NM_002977.3:c.4281C>Tp.Val1427= | p.V1427=LRG_369t1:c.4281C>T, NM_002977.2:c.4281C>T, NM_002977.3:c.4281C>T, XM_005246757.1:c.4314C>T, XR_241346.1:n.612-21544G>ALikely benign03/17/2020 
80SCN9AEx24NM_002977.3:c.4282G>Ap.Val1428Ile | p.V1428ILRG_369t1:c.4282G>A, NM_002977.2:c.4282G>A, NM_002977.3:c.4282G>A, XM_005246757.1:c.4315G>A, XR_241346.1:n.612-21545C>TLikely benign03/13/2017 
81SCN9AEx24NM_002977.3:c.4323C>Tp.Phe1441= | p.F1441=NM_002977.2:c.4323C>T, NM_002977.3:c.4323C>T, XM_005246757.1:c.4356C>T, XR_241346.1:n.612-21586G>ABenign04/02/2015 
82SCN9AEx25NM_002977.3:c.4366-10_4366-7delGTTTNM_002977.2:c.4366-10_4366-7delGTTT, NM_002977.3:c.4366-10_4366-7delGTTTBenign01/27/2014 
83SCN9AEx25NM_002977.3:c.4380C>Tp.Asp1460= | p.D1460=NM_002977.2:c.4380C>T, NM_002977.3:c.4380C>TVOUS04/04/2014
84SCN9AEx25NM_002977.3:c.4462C>Ap.Arg1488= | p.R1488=LRG_369t1:c.4462C>A, NM_002977.2:c.4462C>A, NM_002977.3:c.4462C>A, XM_005246757.1:c.4495C>A, XR_241346.1:n.611+4550G>TVOUS08/08/2017
85SCN9AEx26NM_002977.3:c.4612T>Cp.Trp1538Arg | p.W1538RLRG_369t1:c.4612T>C, NM_002977.2:c.4612T>C, NM_002977.3:c.4612T>C, XM_005246757.1:c.4645T>C, XR_241346.1:n.611+4266A>GLikely benign11/02/2016 
86SCN9AEx27NM_002977.3:c.4908C>Tp.Ile1636= | p.I1636=LRG_369t1:c.4908C>T, NM_002977.2:c.4908C>T, NM_002977.3:c.4908C>T, XM_005246757.1:c.4941C>T, XR_241346.1:n.491G>AVOUS05/12/2016
87SCN9AEx27NM_002977.3:c.5202C>Ap.Ile1734= | p.I1734=NM_002977.2:c.5202C>A, NM_002977.3:c.5202C>A, XM_005246757.1:c.5235C>A, XR_241346.1:n.432-235G>TVOUS08/22/2014
88SCN9AEx27NM_002977.3:c.5318delAp.Glu1773Glyfs*14 | p.E1773GfsX14LRG_369t1:c.5318delA, NM_002977.2:c.5318delA, NM_002977.3:c.5318delA, XM_005246757.1:c.5351delA, XR_241346.1:n.432-351delTPathogenic12/18/2018 
89SCN9AEx27NM_002977.3:c.5536delGp.Asp1846Ilefs*28 | p.D1846IfsX28LRG_369t1:c.5536delG, NM_002977.2:c.5536delG, NM_002977.3:c.5536delG, XM_005246757.1:c.5569delG, XR_241346.1:n.432-569delCLikely pathogenic01/08/2018 
90SCN9AEx27NM_002977.3:c.5717T>Cp.Ile1906Thr | p.I1906TNM_002977.2:c.5717T>C, NM_002977.3:c.5717T>CVOUS11/12/2013
91SCN9AEx27NM_002977.3:c.5723A>Gp.Asp1908Gly | p.D1908GNM_002977.2:c.5723A>G, NM_002977.3:c.5723A>GBenign07/05/2013 
92SCN9AEx27NM_002977.3:c.5746C>Tp.Leu1916Phe | p.L1916FNM_002977.2:c.5746C>T, NM_002977.3:c.5746C>T, XM_005246757.1:c.5779C>T, XR_241346.1:n.432-779G>ABenign05/12/2015 
93SCN9AEx27NM_002977.3:c.5758G>Cp.Asp1920His | p.D1920HLRG_369t1:c.5758G>C, NM_002977.2:c.5758G>C, NM_002977.3:c.5758G>C, XM_005246757.1:c.5791G>C, XR_241346.1:n.432-791C>GVOUS02/25/2020
94SCN9AEx27NM_002977.3:c.5782G>Ap.Glu1928Lys | p.E1928KLRG_369t1:c.5782G>A, NM_002977.2:c.5782G>A, NM_002977.3:c.5782G>A, XM_005246757.1:c.5815G>A, XR_241346.1:n.432-815C>TVOUS04/14/2020
95SCN9AEx27NM_002977.3:c.5916C>Gp.Ser1972Arg | p.S1972RLRG_369t1:c.5916C>G, NM_002977.2:c.5916C>G, NM_002977.3:c.5916C>G, XM_005246757.1:c.5949C>G, XR_241346.1:n.432-949G>CVOUS07/28/2017
96SCN9AEx27NM_002977.3:c.5930A>Tp.Lys1977Ile | p.K1977ILRG_369t1:c.5930A>T, NM_002977.2:c.5930A>T, NM_002977.3:c.5930A>T, XM_005246757.1:c.5963A>T, XR_241346.1:n.432-963T>AVOUS05/16/2019

* 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.