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  
1INSREx1NM_000208.2:c.5C>Gp.Ala2Gly | p.A2GNM_000208.2:c.5C>G, NM_001079817.1:c.5C>GBenign05/09/2018 
2INSREx1NM_000208.2:c.41T>Cp.Leu14Pro | p.L14PNM_000208.2:c.41T>C, NM_001079817.1:c.41T>CVOUS05/17/2017
3INSREx2NM_000208.2:c.151G>Ap.Glu51Lys | p.E51KNM_000208.2:c.151G>A, NM_001079817.1:c.151G>A, XM_005259552.1:c.169G>A, XM_005259553.1:c.169G>A, XM_005259554.1:c.40G>AVOUS02/24/2016
4INSREx2NM_000208.2:c.169G>Ap.Glu57Lys | p.E57KNM_000208.2:c.169G>A, NM_001079817.1:c.169G>A, XM_005259552.1:c.187G>A, XM_005259553.1:c.187G>A, XM_005259554.1:c.58G>AVOUS08/01/2016
5INSREx2NM_000208.2:c.190T>Cp.Leu64= | p.L64=NM_000208.2:c.190T>C, NM_001079817.1:c.190T>C, XM_005259552.1:c.208T>C, XM_005259553.1:c.208T>C, XM_005259554.1:c.79T>CVOUS12/28/2016
6INSREx2NM_000208.2:c.350_353delACTAp.Asn117Thrfs*19 | p.N117TfsX19NM_000208.2:c.350_353delACTA, NM_001079817.1:c.350_353delACTA, XM_005259552.1:c.368_371delACTA, XM_005259553.1:c.368_371delACTA, XM_005259554.1:c.239_242delACTAPathogenic03/21/2017 
7INSREx2NM_000208.2:c.356C>Tp.Ala119Val | p.A119VNM_000208.2:c.356C>T, NM_001079817.1:c.356C>T, XM_005259552.1:c.374C>T, XM_005259553.1:c.374C>T, XM_005259554.1:c.245C>TVOUS01/22/2019
8INSREx2NM_000208.2:c.408G>Ap.Leu136= | p.L136=NM_000208.2:c.408G>A, NM_001079817.1:c.408G>A, XM_005259552.1:c.426G>A, XM_005259553.1:c.426G>A, XM_005259554.1:c.297G>AVOUS09/18/2018
9INSREx3NM_000208.2:c.653-9_653-7delTCTinsCNM_000208.2:c.653-9_653-7delinsC, NM_001079817.1:c.653-9_653-7delinsC, XM_005259552.1:c.671-9_671-7delinsC, XM_005259553.1:c.671-9_671-7delinsC, XM_005259554.1:c.542-9_542-7delinsCBenign01/30/2018 
10INSREx3NM_000208.2:c.653-9T>CNM_000208.2:c.653-9T>C, NM_001079817.1:c.653-9T>C, XM_005259552.1:c.671-9T>C, XM_005259553.1:c.671-9T>C, XM_005259554.1:c.542-9T>CVOUS10/23/2017
11INSREx3NM_000208.2:c.653-5_653-4delTCNM_000208.2:c.653-5_653-4delTC, NM_001079817.1:c.653-5_653-4delTC, XM_005259552.1:c.671-5_671-4delTC, XM_005259553.1:c.671-5_671-4delTC, XM_005259554.1:c.542-5_542-4delTCBenign10/23/2017 
12INSREx3NM_000208.2:c.653-5_653-4dupTCNM_000208.2:c.653-5_653-4dupTC, NM_001079817.1:c.653-5_653-4dupTC, XM_005259552.1:c.671-5_671-4dupTC, XM_005259553.1:c.671-5_671-4dupTC, XM_005259554.1:c.542-5_542-4dupTCBenign10/23/2017 
13INSREx3NM_000208.2:c.783C>Tp.Asp261= | p.D261=NM_000208.2:c.783C>T, NM_001079817.1:c.783C>T, XM_005259552.1:c.801C>T, XM_005259553.1:c.801C>T, XM_005259554.1:c.672C>TBenign01/26/2018 
14INSREx3NM_000208.2:c.959C>Tp.Thr320Met | p.T320MNM_000208.2:c.959C>T, NM_001079817.1:c.959C>T, XM_005259552.1:c.977C>T, XM_005259553.1:c.977C>T, XM_005259554.1:c.848C>TVOUS02/24/2016
15INSREx4NM_000208.2:c.1080C>Tp.Cys360= | p.C360=NM_000208.2:c.1080C>T, NM_001079817.1:c.1080C>T, XM_005259552.1:c.1098C>T, XM_005259553.1:c.1098C>T, XM_005259554.1:c.969C>TLikely benign09/22/2017 
16INSREx4NM_000208.2:c.1084G>Ap.Val362Ile | p.V362INM_000208.2:c.1084G>A, NM_001079817.1:c.1084G>A, XM_005259552.1:c.1102G>A, XM_005259553.1:c.1102G>A, XM_005259554.1:c.973G>AVOUS12/22/2015
17INSREx5NM_000208.2:c.1179G>Ap.Gly393= | p.G393=NM_000208.2:c.1179G>A, NM_001079817.1:c.1179G>A, XM_005259552.1:c.1197G>A, XM_005259553.1:c.1197G>A, XM_005259554.1:c.1068G>AVOUS04/24/2015
18INSREx5NM_000208.2:c.1204G>Tp.Ala402Ser | p.A402SNM_000208.2:c.1204G>T, NM_001079817.1:c.1204G>T, XM_005259552.1:c.1222G>T, XM_005259553.1:c.1222G>T, XM_005259554.1:c.1093G>TVOUS11/30/2018
19INSREx6NM_000208.2:c.1284T>Cp.Tyr428= | p.Y428=NM_000208.2:c.1284T>C, NM_001079817.1:c.1284T>C, XM_005259552.1:c.1302T>C, XM_005259553.1:c.1302T>C, XM_005259554.1:c.1173T>CVOUS03/11/2015
20INSREx6NM_000208.2:c.1433G>Ap.Arg478His | p.R478HNM_000208.2:c.1433G>A, NM_001079817.1:c.1433G>A, XM_005259552.1:c.1451G>A, XM_005259553.1:c.1451G>A, XM_005259554.1:c.1322G>AVOUS08/20/2015
21INSREx8NM_000208.2:c.1650G>Ap.Ala550= | p.A550=NM_000208.2:c.1650G>A, NM_001079817.1:c.1650G>A, XM_005259552.1:c.1668G>A, XM_005259553.1:c.1668G>A, XM_005259554.1:c.1539G>ABenign01/28/2015 
22INSREx8NM_000208.2:c.1665T>Cp.Ser555= | p.S555=NM_000208.2:c.1665T>C, NM_001079817.1:c.1665T>C, XM_005259552.1:c.1683T>C, XM_005259553.1:c.1683T>C, XM_005259554.1:c.1554T>CVOUS02/10/2018
23INSREx8NM_000208.2:c.1810C>Tp.Arg604Trp | p.R604WNM_000208.2:c.1810C>T, NM_001079817.1:c.1810C>T, XM_005259552.1:c.1828C>T, XM_005259553.1:c.1828C>T, XM_005259554.1:c.1699C>TVOUS08/01/2017
24INSREx10NM_000208.2:c.2193G>Ap.Thr731= | p.T731=NM_000208.2:c.2193G>A, NM_001079817.1:c.2193G>A, XM_005259552.1:c.2211G>A, XM_005259553.1:c.2211G>A, XM_005259554.1:c.2082G>ALikely benign10/28/2014 
25INSREx11NM_000208.2:c.2243C>Tp.Ser748Leu | p.S748LNM_000208.2:c.2243C>T, NM_001079817.1:c.2231+2205C>T, XM_005259552.1:c.2261C>T, XM_005259553.1:c.2249+2205C>T, XM_005259554.1:c.2132C>TVOUS07/18/2017
26INSREx11NM_000208.2:c.2256C>Gp.Ala752= | p.A752=NM_000208.2:c.2256C>G, NM_001079817.1:c.2231+2218C>G, XM_005259552.1:c.2274C>G, XM_005259553.1:c.2249+2218C>G, XM_005259554.1:c.2145C>GVOUS07/09/2018
27INSREx12NM_000208.2:c.2295C>Tp.Gly765= | p.G765=NM_000208.2:c.2295C>T, NM_001079817.1:c.2259C>T, XM_005259552.1:c.2313C>T, XM_005259553.1:c.2277C>T, XM_005259554.1:c.2184C>TLikely benign09/07/2018 
28INSREx12NM_000208.2:c.2327C>Tp.Thr776Met | p.T776MNM_000208.2:c.2327C>T, NM_001079817.1:c.2291C>T, XM_005259552.1:c.2345C>T, XM_005259553.1:c.2309C>T, XM_005259554.1:c.2216C>TVOUS07/23/2018
29INSREx12NM_000208.2:c.2486C>Ap.Thr829Asn | p.T829NNM_000208.2:c.2486C>A, NM_001079817.1:c.2450C>A, XM_005259552.1:c.2504C>A, XM_005259553.1:c.2468C>A, XM_005259554.1:c.2375C>AVOUS10/16/2018
30INSREx12NM_000208.2:c.2498G>Ap.Arg833Gln | p.R833QNM_000208.2:c.2498G>A, NM_001079817.1:c.2462G>A, XM_005259552.1:c.2516G>A, XM_005259553.1:c.2480G>A, XM_005259554.1:c.2387G>AVOUS06/21/2018
31INSREx13NM_000208.2:c.2665C>Tp.Arg889Trp | p.R889WNM_000208.2:c.2665C>T, NM_001079817.1:c.2629C>T, XM_005259552.1:c.2683C>T, XM_005259553.1:c.2647C>T, XM_005259554.1:c.2554C>TVOUS01/24/2019
32INSREx13NM_000208.2:c.2666G>Ap.Arg889Gln | p.R889QNM_000208.2:c.2666G>A, NM_001079817.1:c.2630G>A, XM_005259552.1:c.2684G>A, XM_005259553.1:c.2648G>A, XM_005259554.1:c.2555G>AVOUS03/23/2017
33INSREx14NM_000208.2:c.2736G>Ap.Arg912= | p.R912=NM_000208.2:c.2736G>A, NM_001079817.1:c.2700G>A, XM_005259552.1:c.2754G>A, XM_005259553.1:c.2718G>A, XM_005259554.1:c.2625G>AVOUS05/15/2018
34INSREx14NM_000208.2:c.2838C>Gp.Asp946Glu | p.D946ENM_000208.2:c.2838C>G, NM_001079817.1:c.2802C>G, XM_005259552.1:c.2856C>G, XM_005259553.1:c.2820C>G, XM_005259554.1:c.2727C>GVOUS02/11/2016
35INSREx16NM_000208.2:c.2970G>Ap.Pro990= | p.P990=NM_000208.2:c.2970G>A, NM_001079817.1:c.2934G>A, XM_005259552.1:c.2988G>A, XM_005259553.1:c.2952G>A, XM_005259554.1:c.2859G>AVOUS06/30/2017
36INSREx17NM_000208.2:c.3034G>Ap.Val1012Met | p.V1012MNM_000208.2:c.3034G>A, NM_001079817.1:c.2998G>A, p.V985M, XM_005259552.1:c.3052G>A, XM_005259553.1:c.3016G>A, XM_005259554.1:c.2923G>ABenign01/28/2015 
37INSREx17NM_000208.2:c.3042C>Tp.Asp1014= | p.D1014=NM_000208.2:c.3042C>T, NM_001079817.1:c.3006C>T, XM_005259552.1:c.3060C>T, XM_005259553.1:c.3024C>T, XM_005259554.1:c.2931C>TVOUS08/29/2018
38INSREx17NM_000208.2:c.3111G>Ap.Val1037= | p.V1037=NM_000208.2:c.3111G>A, NM_001079817.1:c.3075G>A, XM_005259552.1:c.3129G>A, XM_005259553.1:c.3093G>A, XM_005259554.1:c.3000G>AVOUS09/15/2015
39INSREx17NM_000208.2:c.3158G>Ap.Arg1053His | p.R1053HNM_000208.2:c.3158G>A, NM_001079817.1:c.3122G>A, XM_005259552.1:c.3176G>A, XM_005259553.1:c.3140G>A, XM_005259554.1:c.3047G>AVOUS07/21/2015
40INSREx17NM_000208.2:c.3165G>Ap.Ala1055= | p.A1055=NM_000208.2:c.3165G>A, NM_001079817.1:c.3129G>A, XM_005259552.1:c.3183G>A, XM_005259553.1:c.3147G>A, XM_005259554.1:c.3054G>AVOUS02/25/2016
41INSREx17NM_000208.2:c.3193C>Gp.Leu1065Val | p.L1065VNM_000208.2:c.3193C>G, NM_001079817.1:c.3157C>G, XM_005259552.1:c.3211C>G, XM_005259553.1:c.3175C>G, XM_005259554.1:c.3082C>GVOUS03/20/2015
42INSREx17NM_000208.2:c.3255C>Tp.His1085= | p.H1085=NM_000208.2:c.3255C>T, NM_001079817.1:c.3219C>T, XM_005259552.1:c.3273C>T, XM_005259553.1:c.3237C>T, XM_005259554.1:c.3144C>TBenign05/08/2015 
43INSREx19NM_000208.2:c.3475_3477delGACinsAAp.Asp1159Asnfs*22 | p.D1159NfsX22NM_000208.2:c.3475_3477delinsAA, NM_001079817.1:c.3439_3441delinsAA, XM_005259552.1:c.3493_3495delinsAA, XM_005259553.1:c.3457_3459delinsAA, XM_005259554.1:c.3364_3366delinsAAPathogenic10/16/2018 
44INSREx22NM_000208.2:c.3805A>Tp.Met1269Leu | p.M1269LNM_000208.2:c.3805A>T, NM_001079817.1:c.3769A>T, XM_005259552.1:c.3823A>T, XM_005259553.1:c.3787A>T, XM_005259554.1:c.3694A>TVOUS12/07/2016
45INSREx22NM_000208.2:c.3863A>Gp.Asn1288Ser | p.N1288SNM_000208.2:c.3863A>G, NM_001079817.1:c.3827A>G, XM_005259552.1:c.3881A>G, XM_005259553.1:c.3845A>G, XM_005259554.1:c.3752A>GVOUS07/22/2017
46INSREx1NM_000208.3:c.5C>Gp.Ala2Gly | p.A2GNM_000208.2:c.5C>G, NM_001079817.1:c.5C>GBenign09/01/2020 
47INSREx2NM_000208.3:c.123G>Tp.Arg41= | p.R41=NM_000208.2:c.123G>T, NM_001079817.1:c.123G>T, XM_005259552.1:c.141G>T, XM_005259553.1:c.141G>T, XM_005259554.1:c.12G>TVOUS07/16/2020
48INSREx2NM_000208.3:c.575G>Ap.Gly192Asp | p.G192DNM_000208.2:c.575G>A, NM_001079817.1:c.575G>A, XM_005259552.1:c.593G>A, XM_005259553.1:c.593G>A, XM_005259554.1:c.464G>AVOUS02/18/2020
49INSREx2NM_000208.3:c.590C>Gp.Pro197Arg | p.P197RNM_000208.2:c.590C>G, NM_001079817.1:c.590C>G, XM_005259552.1:c.608C>G, XM_005259553.1:c.608C>G, XM_005259554.1:c.479C>GVOUS03/16/2020
50INSREx3NM_000208.3:c.653-15_653-4dupTCTCTCTCTCTCVOUS09/06/2019
51INSREx3NM_000208.3:c.653-9delTLikely benign04/06/2021 
52INSREx3NM_000208.3:c.653-9T>CNM_000208.2:c.653-9T>C, NM_001079817.1:c.653-9T>C, XM_005259552.1:c.671-9T>C, XM_005259553.1:c.671-9T>C, XM_005259554.1:c.542-9T>CVOUS04/05/2019
53INSREx3NM_000208.3:c.653-9_653-7delTCTinsCBenign07/16/2019 
54INSREx3NM_000208.3:c.783C>Tp.Asp261= | p.D261=NM_000208.2:c.783C>T, NM_001079817.1:c.783C>T, XM_005259552.1:c.801C>T, XM_005259553.1:c.801C>T, XM_005259554.1:c.672C>TBenign07/16/2019 
55INSREx4NM_000208.3:c.996G>Tp.Leu332= | p.L332=NM_000208.2:c.996G>T, NM_001079817.1:c.996G>T, XM_005259552.1:c.1014G>T, XM_005259553.1:c.1014G>T, XM_005259554.1:c.885G>TVOUS09/04/2020
56INSREx4NM_000208.3:c.1032C>Tp.Gly344= | p.G344=NM_000208.2:c.1032C>T, NM_001079817.1:c.1032C>T, XM_005259552.1:c.1050C>T, XM_005259553.1:c.1050C>T, XM_005259554.1:c.921C>TVOUS10/11/2019
57INSREx5NM_000208.3:c.1266T>Cp.Ile422= | p.I422=NM_000208.2:c.1266T>C, NM_001079817.1:c.1266T>C, XM_005259552.1:c.1284T>C, XM_005259553.1:c.1284T>C, XM_005259554.1:c.1155T>CVOUS04/02/2020
58INSREx7NM_000208.3:c.1566C>Tp.Pro522= | p.P522=NM_000208.2:c.1566C>T, NM_001079817.1:c.1566C>T, XM_005259552.1:c.1584C>T, XM_005259553.1:c.1584C>T, XM_005259554.1:c.1455C>TVOUS03/15/2021
59INSREx10NM_000208.3:c.2193G>Ap.Thr731= | p.T731=NM_000208.2:c.2193G>A, NM_001079817.1:c.2193G>A, XM_005259552.1:c.2211G>A, XM_005259553.1:c.2211G>A, XM_005259554.1:c.2082G>ABenign06/18/2020 
60INSREx11NM_000208.3:c.2243C>Tp.Ser748Leu | p.S748LNM_000208.2:c.2243C>T, NM_001079817.1:c.2231+2205C>T, XM_005259552.1:c.2261C>T, XM_005259553.1:c.2249+2205C>T, XM_005259554.1:c.2132C>TVOUS12/11/2019
61INSREx12NM_000208.3:c.2280A>Gp.Lys760= | p.K760=NM_000208.2:c.2280A>G, NM_001079817.1:c.2244A>G, XM_005259552.1:c.2298A>G, XM_005259553.1:c.2262A>G, XM_005259554.1:c.2169A>GVOUS10/11/2019
62INSREx12NM_000208.3:c.2355G>Ap.Ser785= | p.S785=NM_000208.2:c.2355G>A, NM_001079817.1:c.2319G>A, XM_005259552.1:c.2373G>A, XM_005259553.1:c.2337G>A, XM_005259554.1:c.2244G>AVOUS02/03/2021
63INSREx12NM_000208.3:c.2497C>Tp.Arg833Trp | p.R833WNM_000208.2:c.2497C>T, NM_001079817.1:c.2461C>T, XM_005259552.1:c.2515C>T, XM_005259553.1:c.2479C>T, XM_005259554.1:c.2386C>TVOUS09/04/2020
64INSREx14NM_000208.3:c.2736G>Ap.Arg912= | p.R912=VOUS02/09/2021
65INSREx14NM_000208.3:c.2829C>Tp.Tyr943= | p.Y943=NM_000208.2:c.2829C>T, NM_001079817.1:c.2793C>T, XM_005259552.1:c.2847C>T, XM_005259553.1:c.2811C>T, XM_005259554.1:c.2718C>TVOUS12/05/2020
66INSREx14NM_000208.3:c.2838C>Gp.Asp946Glu | p.D946ENM_000208.2:c.2838C>G, NM_001079817.1:c.2802C>G, XM_005259552.1:c.2856C>G, XM_005259553.1:c.2820C>G, XM_005259554.1:c.2727C>GVOUS04/27/2020
67INSREx15NM_000208.3:c.2853G>Ap.Pro951= | p.P951=NM_000208.2:c.2853G>A, NM_001079817.1:c.2817G>A, XM_005259552.1:c.2871G>A, XM_005259553.1:c.2835G>A, XM_005259554.1:c.2742G>AVOUS12/16/2019
68INSREx17NM_000208.3:c.3102C>Tp.Phe1034= | p.F1034=NM_000208.2:c.3102C>T, NM_001079817.1:c.3066C>T, XM_005259552.1:c.3120C>T, XM_005259553.1:c.3084C>T, XM_005259554.1:c.2991C>TVOUS03/15/2021
69INSREx19NM_000208.3:c.3475_3477delGACinsAAp.Asp1159Asnfs*22 | p.D1159NfsX22NM_000208.2:c.3475_3477delinsAA, NM_001079817.1:c.3439_3441delinsAA, XM_005259552.1:c.3493_3495delinsAA, XM_005259553.1:c.3457_3459delinsAA, XM_005259554.1:c.3364_3366delinsAAPathogenic04/15/2019 
70INSREx22NM_000208.3:c.3805A>Tp.Met1269Leu | p.M1269LNM_000208.2:c.3805A>T, NM_001079817.1:c.3769A>T, XM_005259552.1:c.3823A>T, XM_005259553.1:c.3787A>T, XM_005259554.1:c.3694A>TVOUS06/13/2019
71INSREx22NM_000208.3:c.3991C>Tp.Arg1331Cys | p.R1331CNM_000208.2:c.3991C>T, NM_001079817.1:c.3955C>T, XM_005259552.1:c.4009C>T, XM_005259553.1:c.3973C>T, XM_005259554.1:c.3880C>TVOUS07/16/2019
72INSREx22NM_000208.3:c.4028G>Ap.Arg1343Gln | p.R1343QNM_000208.2:c.4028G>A, NM_001079817.1:c.3992G>A, XM_005259552.1:c.4046G>A, XM_005259553.1:c.4010G>A, XM_005259554.1:c.3917G>AVOUS03/31/2021

* 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.