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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  
1INSEx2NM_000207.2:c.25C>Tp.Pro9Ser | p.P9SNM_000207.2:c.25C>T, NM_000360.3:c.*3286C>T, NM_001042376.1:c.25C>T, NM_001042376.2:c.25C>T, NM_001185097.1:c.25C>T, NM_001185098.1:c.25C>T, NM_199292.2:c.*3286C>T, NM_199293.2:c.*3286C>T, NR_003512.1:n.84C>T, NR_003512.2:n.84C>T, NR_003512.3:n.84C>T, XM_005252899.1:c.-3149C>T, XM_005253099.1:c.*3286C>T, XM_005253100.1:c.*3286C>T, XM_005253101.1:c.*3286C>TVOUS04/07/2020
2INSEx3NM_000207.2:c.188-31G>ANM_000207.2:c.188-31G>A, NM_000360.3:c.*4205G>A, NM_001042376.1:c.187+757G>A, NM_001042376.2:c.187+757G>A, NM_001185097.1:c.188-31G>A, NM_001185098.1:c.188-31G>A, NM_199292.2:c.*4205G>A, NM_199293.2:c.*4205G>A, NR_003512.1:n.246+757G>A, NR_003512.2:n.246+757G>A, NR_003512.3:n.246+757G>A, XM_005252899.1:c.-2230G>A, XM_005253099.1:c.*4205G>A, XM_005253100.1:c.*4205G>A, XM_005253101.1:c.*4205G>APathogenic01/12/2017 
3INSREx1NM_000208.2:c.5C>Gp.Ala2Gly | p.A2GNM_000208.2:c.5C>G, NM_001079817.1:c.5C>GBenign05/09/2018 
4INSREx1NM_000208.2:c.41T>Cp.Leu14Pro | p.L14PNM_000208.2:c.41T>C, NM_001079817.1:c.41T>CVOUS05/17/2017
5INSREx2NM_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
6INSREx2NM_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
7INSREx2NM_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
8INSREx2NM_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 
9INSREx2NM_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
10INSREx2NM_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
11INSREx3NM_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 
12INSREx3NM_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
13INSREx3NM_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 
14INSREx3NM_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 
15INSREx3NM_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 
16INSREx3NM_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
17INSREx4NM_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 
18INSREx4NM_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
19INSREx5NM_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
20INSREx5NM_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
21INSREx6NM_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
22INSREx6NM_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
23INSREx8NM_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 
24INSREx8NM_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
25INSREx8NM_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
26INSREx10NM_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 
27INSREx11NM_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
28INSREx11NM_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
29INSREx12NM_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 
30INSREx12NM_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
31INSREx12NM_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
32INSREx12NM_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
33INSREx13NM_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
34INSREx13NM_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
35INSREx14NM_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
36INSREx14NM_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
37INSREx16NM_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
38INSREx17NM_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 
39INSREx17NM_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
40INSREx17NM_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
41INSREx17NM_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
42INSREx17NM_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
43INSREx17NM_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
44INSREx17NM_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 
45INSREx19NM_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 
46INSREx22NM_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
47INSREx22NM_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
48INSREx1NM_000208.3:c.5C>Gp.Ala2Gly | p.A2GNM_000208.2:c.5C>G, NM_001079817.1:c.5C>GBenign09/01/2020 
49INSREx2NM_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
50INSREx2NM_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
51INSREx2NM_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
52INSREx3NM_000208.3:c.653-15_653-4dupTCTCTCTCTCTCVOUS09/06/2019
53INSREx3NM_000208.3:c.653-9delTLikely benign04/06/2021 
54INSREx3NM_000208.3:c.653-9_653-7delTCTinsCBenign07/16/2019 
55INSREx3NM_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
56INSREx3NM_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 
57INSREx4NM_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
58INSREx4NM_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
59INSREx5NM_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
60INSREx7NM_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
61INSREx10NM_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 
62INSREx11NM_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
63INSREx12NM_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
64INSREx12NM_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
65INSREx12NM_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
66INSREx14NM_000208.3:c.2736G>Ap.Arg912= | p.R912=VOUS02/09/2021
67INSREx14NM_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
68INSREx14NM_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
69INSREx15NM_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
70INSREx17NM_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
71INSREx19NM_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 
72INSREx22NM_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
73INSREx22NM_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
74INSREx22NM_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
75KIDINS220Ex24NM_020738.2:c.3242C>Tp.Pro1081Leu | p.P1081LNM_020738.2:c.3242C>T, XM_005246169.1:c.3245C>T, XM_005246170.1:c.3242C>T, XM_005246171.1:c.3245C>T, XM_005246172.1:c.3245C>T, XM_005246173.1:c.3245C>T, XM_005246174.1:c.3242C>T, XM_005246175.1:c.3245C>T, XM_005246176.1:c.3245C>T, XM_005246177.1:c.3245C>T, XR_241257.1:n.3427C>TVOUS09/18/2019
76LINS1Ex2NM_001040616.2:c.304delCp.Arg102Glyfs*18 | p.R102GfsX18NM_001040614.1:c.304delC, NM_001040615.1:c.304delC, NM_001040616.1:c.304delC, NM_001040616.2:c.304delC, NM_018148.4:c.304delC, XM_005254941.1:c.304delC, XM_005254942.1:c.304delC, XM_005254943.1:c.304delC, XM_005254944.1:c.43-187delC, XM_005254945.1:c.304delC, XR_243210.1:n.407delCVOUS08/02/2018
77LINS1Ex4NM_001040616.2:c.562A>Gp.Ile188Val | p.I188VNM_001040614.1:c.562A>G, NM_001040615.1:c.562A>G, NM_001040616.1:c.562A>G, NM_001040616.2:c.562A>G, NM_018148.4:c.562A>G, XM_005254941.1:c.562A>G, XM_005254942.1:c.562A>G, XM_005254943.1:c.562A>G, XM_005254944.1:c.205A>G, XM_005254945.1:c.562A>G, XR_243210.1:n.665A>GVOUS03/21/2019
78LINS1Ex6NM_001040616.2:c.1394+7G>ANM_001040614.1:c.1394+7G>A, NM_001040615.1:c.1394+7G>A, NM_001040616.1:c.1394+7G>A, NM_001040616.2:c.1394+7G>A, NM_018148.4:c.1394+7G>A, XM_005254941.1:c.1394+7G>A, XM_005254942.1:c.1394+7G>A, XM_005254943.1:c.1286+7G>A, XM_005254944.1:c.1037+7G>A, XM_005254945.1:c.*1406G>A, XR_243210.1:n.1441+7G>AVOUS05/30/2019
79LINS1Ex7NM_001040616.2:c.1780dupTp.Ser594Phefs*6 | p.S594FfsX6NM_001040614.1:c.1780_1781insT, NM_001040614.1:c.1780dupT, NM_001040615.1:c.1780_1781insT, NM_001040615.1:c.1780dupT, NM_001040616.1:c.1780_1781insT, NM_001040616.1:c.1780dupT, NM_001040616.2:c.1780_1781insT, NM_001040616.2:c.1780dupT, NM_018148.4:c.1780_1781insT, NM_018148.4:c.1780dupT, XM_005254941.1:c.1780_1781insT, XM_005254941.1:c.1780dupT, XM_005254942.1:c.1780_1781insT, XM_005254942.1:c.1780dupT, XM_005254943.1:c.1672_1673insT, XM_005254943.1:c.1672dupT, XM_005254944.1:c.1423_1424insT, XM_005254944.1:c.1423dupT, XM_005254945.1:c.*3561_*3562insT, XM_005254945.1:c.*3561dupT, XR_243210.1:n.*300_*301insT, XR_243210.1:n.*300dupTVOUS01/05/2017

* 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.