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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  
1ATMEx3NM_000051.3:c.103C>Tp.Arg35* | p.R35XLRG_135t1:c.103C>T, NM_000051.3:c.103C>T, XM_005271561.1:c.103C>T, XM_005271562.1:c.103C>T, XM_005271563.1:c.103C>TPathogenic05/25/2018 
2ATMEx3NM_000051.3:c.146C>Gp.Ser49Cys | p.S49CLRG_135t1:c.146C>G, NM_000051.3:c.146C>G, XM_005271561.1:c.146C>G, XM_005271562.1:c.146C>G, XM_005271563.1:c.146C>GBenign02/27/2015 
3ATMEx3NM_000051.3:c.162T>Cp.Tyr54= | p.Y54=LRG_135t1:c.162T>C, NM_000051.3:c.162T>C, XM_005271561.1:c.162T>C, XM_005271562.1:c.162T>C, XM_005271563.1:c.162T>CLikely benign12/20/2016 
4ATMEx4NM_000051.3:c.290T>Cp.Ile97Thr | p.I97TLRG_135t1:c.290T>C, NM_000051.3:c.290T>C, XM_005271561.1:c.290T>C, XM_005271562.1:c.290T>C, XM_005271563.1:c.290T>CVOUS10/06/2016
5ATMEx4NM_000051.3:c.320G>Ap.Cys107Tyr | p.C107YLRG_135t1:c.320G>A, NM_000051.3:c.320G>A, XM_005271561.1:c.320G>A, XM_005271562.1:c.320G>A, XM_005271563.1:c.320G>AVOUS06/05/2018
6ATMEx5NM_000051.3:c.334G>Ap.Ala112Thr | p.A112TLRG_135t1:c.334G>A, NM_000051.3:c.334G>A, XM_005271561.1:c.334G>A, XM_005271562.1:c.334G>A, XM_005271563.1:c.334G>AVOUS06/05/2018
7ATMEx5NM_000051.3:c.378T>Ap.Asp126Glu | p.D126ENM_000051.3:c.378T>A, XM_005271561.1:c.378T>A, XM_005271562.1:c.378T>A, XM_005271563.1:c.378T>ABenign02/16/2015 
8ATMEx6NM_000051.3:c.544G>Cp.Val182Leu | p.V182LNM_000051.3:c.544G>C, XM_005271561.1:c.544G>C, XM_005271562.1:c.544G>C, XM_005271563.1:c.544G>C, XM_005271564.1:c.-2704G>CBenign03/30/2015 
9ATMEx6NM_000051.3:c.609C>Tp.Asp203= | p.D203=VOUS12/19/2019
10ATMEx6NM_000051.3:c.610G>Ap.Gly204Arg | p.G204RLRG_135t1:c.610G>A, NM_000051.3:c.610G>A, XM_005271561.1:c.610G>A, XM_005271562.1:c.610G>A, XM_005271563.1:c.610G>A, XM_005271564.1:c.-2638G>AVOUS06/11/2018
11ATMEx7NM_000051.3:c.670A>Gp.Lys224Glu | p.K224ELRG_135t1:c.670A>G, NM_000051.3:c.670A>G, XM_005271561.1:c.670A>G, XM_005271562.1:c.670A>G, XM_005271563.1:c.670A>G, XM_005271564.1:c.-1909A>GVOUS01/04/2017
12ATMEx7NM_000051.3:c.706C>Gp.Leu236Val | p.L236VLRG_135t1:c.706C>G, NM_000051.3:c.706C>G, XM_005271561.1:c.706C>G, XM_005271562.1:c.706C>G, XM_005271563.1:c.706C>G, XM_005271564.1:c.-1873C>GVOUS10/28/2015
13ATMEx7NM_000051.3:c.861T>Cp.Ile287= | p.I287=LRG_135t1:c.861T>C, NM_000051.3:c.861T>C, XM_005271561.1:c.861T>C, XM_005271562.1:c.861T>C, XM_005271563.1:c.861T>C, XM_005271564.1:c.-1718T>CVOUS03/05/2019
14ATMEx8NM_000051.3:c.1009C>Tp.Arg337Cys | p.R337CLRG_135t1:c.1009C>T, NM_000051.3:c.1009C>T, XM_005271561.1:c.1009C>T, XM_005271562.1:c.1009C>T, XM_005271563.1:c.1009C>T, XM_005271564.1:c.-36C>TVOUS05/30/2016
15ATMEx9NM_000051.3:c.1066-6T>GNM_000051.3:c.1066-6T>G, XM_005271561.1:c.1066-6T>G, XM_005271562.1:c.1066-6T>G, XM_005271563.1:c.1066-6T>G, XM_005271564.1:c.22-6T>GVOUS09/16/2014
16ATMEx9NM_000051.3:c.1073A>Gp.Asn358Ser | p.N358SLRG_135t1:c.1073A>G, NM_000051.3:c.1073A>G, XM_005271561.1:c.1073A>G, XM_005271562.1:c.1073A>G, XM_005271563.1:c.1073A>G, XM_005271564.1:c.29A>GVOUS05/25/2018
17ATMEx9NM_000051.3:c.1138T>Ap.Tyr380Asn | p.Y380NLRG_135t1:c.1138T>A, NM_000051.3:c.1138T>A, XM_005271561.1:c.1138T>A, XM_005271562.1:c.1138T>A, XM_005271563.1:c.1138T>A, XM_005271564.1:c.94T>AVOUS10/08/2016
18ATMEx9NM_000051.3:c.1229T>Cp.Val410Ala | p.V410ALRG_135t1:c.1229T>C, NM_000051.3:c.1229T>CLikely benign04/01/2015 
19ATMEx10NM_000051.3:c.1380G>Cp.Thr460= | p.T460=LRG_135t1:c.1380G>C, NM_000051.3:c.1380G>C, XM_005271561.1:c.1380G>C, XM_005271562.1:c.1380G>C, XM_005271563.1:c.1380G>C, XM_005271564.1:c.336G>CLikely benign05/29/2018 
20ATMEx10NM_000051.3:c.1516G>Tp.Gly506Cys | p.G506CLRG_135t1:c.1516G>T, NM_000051.3:c.1516G>T, XM_005271561.1:c.1516G>T, XM_005271562.1:c.1516G>T, XM_005271563.1:c.1516G>T, XM_005271564.1:c.472G>TVOUS10/30/2019
21ATMEx10NM_000051.3:c.1541G>Ap.Gly514Asp | p.G514DLRG_135t1:c.1541G>A, NM_000051.3:c.1541G>A, XM_005271561.1:c.1541G>A, XM_005271562.1:c.1541G>A, XM_005271563.1:c.1541G>A, XM_005271564.1:c.497G>ABenign05/12/2016 
22ATMEx11NM_000051.3:c.1631T>Cp.Leu544Ser | p.L544SLRG_135t1:c.1631T>C, NM_000051.3:c.1631T>C, XM_005271561.1:c.1631T>C, XM_005271562.1:c.1631T>C, XM_005271563.1:c.1631T>C, XM_005271564.1:c.587T>CVOUS12/01/2016
23ATMEx11NM_000051.3:c.1636C>Gp.Leu546Val | p.L546VNM_000051.3:c.1636C>G, XM_005271561.1:c.1636C>G, XM_005271562.1:c.1636C>G, XM_005271563.1:c.1636C>G, XM_005271564.1:c.592C>GBenign02/16/2015 
24ATMEx11NM_000051.3:c.1744T>Cp.Phe582Leu | p.F582LLRG_135t1:c.1744T>C, NM_000051.3:c.1744T>C, XM_005271561.1:c.1744T>C, XM_005271562.1:c.1744T>C, XM_005271563.1:c.1744T>C, XM_005271564.1:c.700T>CLikely benign03/20/2015 
25ATMEx11NM_000051.3:c.1748A>Gp.Tyr583Cys | p.Y583CLRG_135t1:c.1748A>G, NM_000051.3:c.1748A>G, XM_005271561.1:c.1748A>G, XM_005271562.1:c.1748A>G, XM_005271563.1:c.1748A>G, XM_005271564.1:c.704A>GVOUS03/12/2018
26ATMEx12NM_000051.3:c.1810C>Tp.Pro604Ser | p.P604SLRG_135t1:c.1810C>T, NM_000051.3:c.1810C>TLikely benign09/15/2015 
27ATMEx13NM_000051.3:c.1899-55T>GLRG_135t1:c.1899-55T>G, NM_000051.3:c.1899-55T>G, XM_005271561.1:c.1899-55T>G, XM_005271562.1:c.1899-55T>G, XM_005271563.1:c.1899-55T>G, XM_005271564.1:c.855-55T>GBenign04/28/2017 
28ATMEx13NM_000051.3:c.2096A>Gp.Glu699Gly | p.E699GLRG_135t1:c.2096A>G, NM_000051.3:c.2096A>G, XM_005271561.1:c.2096A>G, XM_005271562.1:c.2096A>G, XM_005271563.1:c.2096A>G, XM_005271564.1:c.1052A>GBenign12/29/2014 
29ATMEx13NM_000051.3:c.2119T>Cp.Ser707Pro | p.S707PNM_000051.3:c.2119T>C, XM_005271561.1:c.2119T>C, XM_005271562.1:c.2119T>C, XM_005271563.1:c.2119T>C, XM_005271564.1:c.1075T>CBenign02/26/2015 
30ATMEx15NM_000051.3:c.2346A>Gp.Leu782= | p.L782=LRG_135t1:c.2346A>G, NM_000051.3:c.2346A>G, XM_005271561.1:c.2346A>G, XM_005271562.1:c.2346A>G, XM_005271563.1:c.2346A>G, XM_005271564.1:c.1302A>GVOUS01/20/2017
31ATMEx15NM_000051.3:c.2362A>Cp.Ser788Arg | p.S788RNM_000051.3:c.2362A>C, XM_005271561.1:c.2362A>C, XM_005271562.1:c.2362A>C, XM_005271563.1:c.2362A>C, XM_005271564.1:c.1318A>CBenign01/07/2015 
32ATMEx16NM_000051.3:c.2377-6T>ALRG_135t1:c.2377-6T>A, NM_000051.3:c.2377-6T>A, XM_005271561.1:c.2377-6T>A, XM_005271562.1:c.2377-6T>A, XM_005271563.1:c.2377-6T>A, XM_005271564.1:c.1333-6T>AVOUS04/04/2017
33ATMEx17NM_000051.3:c.2572T>Cp.Phe858Leu | p.F858LNM_000051.3:c.2572T>C, XM_005271561.1:c.2572T>C, XM_005271562.1:c.2572T>C, XM_005271563.1:c.2572T>C, XM_005271564.1:c.1528T>CBenign02/09/2015 
34ATMEx17NM_000051.3:c.2614C>Tp.Pro872Ser | p.P872SNM_000051.3:c.2614C>T, XM_005271561.1:c.2614C>T, XM_005271562.1:c.2614C>T, XM_005271563.1:c.2614C>T, XM_005271564.1:c.1570C>TBenign02/16/2015 
35ATMEx19NM_000051.3:c.2921C>Gp.Ser974Cys | p.S974CLRG_135t1:c.2921C>G, NM_000051.3:c.2921C>G, XM_005271561.1:c.2921C>G, XM_005271562.1:c.2921C>G, XM_005271563.1:c.2921C>G, XM_005271564.1:c.1877C>GVOUS01/19/2017
36ATMEx20NM_000051.3:c.2922-8T>ALRG_135t1:c.2922-8T>A, NM_000051.3:c.2922-8T>A, XM_005271561.1:c.2922-8T>A, XM_005271562.1:c.2922-8T>A, XM_005271563.1:c.2922-8T>A, XM_005271564.1:c.1878-8T>AVOUS02/06/2017
37ATMEx20NM_000051.3:c.2932T>Cp.Ser978Pro | p.S978PLRG_135t1:c.2932T>C, NM_000051.3:c.2932T>C, XM_005271561.1:c.2932T>C, XM_005271562.1:c.2932T>C, XM_005271563.1:c.2932T>C, XM_005271564.1:c.1888T>CLikely benign07/22/2016 
38ATMEx20NM_000051.3:c.3014A>Gp.Asn1005Ser | p.N1005SLRG_135t1:c.3014A>G, NM_000051.3:c.3014A>G, XM_005271561.1:c.3014A>G, XM_005271562.1:c.3014A>G, XM_005271563.1:c.3014A>G, XM_005271564.1:c.1970A>GVOUS03/29/2016
39ATMEx22NM_000051.3:c.3161C>Gp.Pro1054Arg | p.P1054RNM_000051.3:c.3161C>G, XM_005271561.1:c.3161C>G, XM_005271562.1:c.3161C>G, XM_005271563.1:c.3161C>G, XM_005271564.1:c.2117C>GBenign02/09/2015 
40ATMEx23NM_000051.3:c.3383A>Gp.Gln1128Arg | p.Q1128RLRG_135t1:c.3383A>G, NM_000051.3:c.3383A>G, XM_005271561.1:c.3383A>G, XM_005271562.1:c.3383A>G, XM_005271563.1:c.3383A>G, XM_005271564.1:c.2339A>GBenign02/29/2016 
41ATMEx24NM_000051.3:c.3517T>Cp.Leu1173= | p.L1173=LRG_135t1:c.3517T>C, NM_000051.3:c.3517T>C, XM_005271561.1:c.3517T>C, XM_005271562.1:c.3517T>C, XM_005271563.1:c.3517T>C, XM_005271564.1:c.2473T>CLikely benign05/29/2018 
42ATMEx25NM_000051.3:c.3601T>Ap.Phe1201Ile | p.F1201ILRG_135t1:c.3601T>A, NM_000051.3:c.3601T>A, NM_138292.3:c.-4917T>A, XM_005271561.1:c.3601T>A, XM_005271562.1:c.3601T>A, XM_005271563.1:c.3601T>A, XM_005271564.1:c.2557T>AVOUS08/17/2016
43ATMEx25NM_000051.3:c.3628A>Gp.Met1210Val | p.M1210VLRG_135t1:c.3628A>G, NM_000051.3:c.3628A>G, NM_138292.3:c.-4890A>G, XM_005271561.1:c.3628A>G, XM_005271562.1:c.3628A>G, XM_005271563.1:c.3628A>G, XM_005271564.1:c.2584A>GVOUS04/24/2019
44ATMEx26NM_000051.3:c.3925G>Ap.Ala1309Thr | p.A1309TNM_000051.3:c.3925G>A, NM_138292.3:c.-3246G>A, XM_005271561.1:c.3925G>A, XM_005271562.1:c.3925G>A, XM_005271563.1:c.3925G>A, XM_005271564.1:c.2881G>AVOUS11/20/2014
45ATMEx27NM_000051.3:c.4091A>Gp.Asp1364Gly | p.D1364GNM_000051.3:c.4091A>G, NM_138292.3:c.47A>G, XM_005271561.1:c.4091A>G, XM_005271562.1:c.4091A>G, XM_005271563.1:c.4091A>G, XM_005271564.1:c.3047A>GVOUS09/15/2015
46ATMEx28NM_000051.3:c.4138C>Tp.His1380Tyr | p.H1380YLRG_135t1:c.4138C>T, NM_000051.3:c.4138C>T, NM_138292.3:c.94C>T, XM_005271561.1:c.4138C>T, XM_005271562.1:c.4138C>T, XM_005271563.1:c.4138C>T, XM_005271564.1:c.3094C>TBenign05/12/2016 
47ATMEx29NM_000051.3:c.4258C>Tp.Leu1420Phe | p.L1420FNM_000051.3:c.4258C>T, NM_138292.3:c.214C>T, XM_005271561.1:c.4258C>T, XM_005271562.1:c.4258C>T, XM_005271563.1:c.4258C>T, XM_005271564.1:c.3214C>TBenign06/16/2015 
48ATMEx29NM_000051.3:c.4279G>Ap.Ala1427Thr | p.A1427TLRG_135t1:c.4279G>A, NM_000051.3:c.4279G>A, NM_138292.3:c.235G>A, XM_005271561.1:c.4279G>A, XM_005271562.1:c.4279G>A, XM_005271563.1:c.4279G>A, XM_005271564.1:c.3235G>AVOUS03/04/2018
49ATMEx29NM_000051.3:c.4373delGp.Gly1458Glufs*15 | p.G1458EfsX15LRG_135t1:c.4373delG, NM_000051.3:c.4373delG, NM_138292.3:c.329delG, XM_005271561.1:c.4373delG, XM_005271562.1:c.4373delG, XM_005271563.1:c.4373delG, XM_005271564.1:c.3329delGPathogenic05/05/2020 
50ATMEx29NM_000051.3:c.4388T>Gp.Phe1463Cys | p.F1463CLRG_135t1:c.4388T>G, NM_000051.3:c.4388T>G, NM_138292.3:c.344T>G, XM_005271561.1:c.4388T>G, XM_005271562.1:c.4388T>G, XM_005271563.1:c.4388T>G, XM_005271564.1:c.3344T>GVOUS02/05/2015
51ATMEx29NM_000051.3:c.4402G>Ap.Val1468Ile | p.V1468INM_000051.3:c.4402G>A, NM_138292.3:c.358G>A, XM_005271561.1:c.4402G>A, XM_005271562.1:c.4402G>A, XM_005271563.1:c.4402G>A, XM_005271564.1:c.3358G>AVOUS05/08/2015
52ATMEx29NM_000051.3:c.4424A>Gp.Tyr1475Cys | p.Y1475CLRG_135t1:c.4424A>G, NM_000051.3:c.4424A>G, NM_138292.3:c.380A>G, XM_005271561.1:c.4424A>G, XM_005271562.1:c.4424A>G, XM_005271563.1:c.4424A>G, XM_005271564.1:c.3380A>GVOUS07/17/2019
53ATMEx30NM_000051.3:c.4473C>Tp.Phe1491= | p.F1491=LRG_135t1:c.4473C>T, NM_000051.3:c.4473C>T, NM_138292.3:c.429C>T, XM_005271561.1:c.4473C>T, XM_005271562.1:c.4473C>T, XM_005271563.1:c.4473C>T, XM_005271564.1:c.3429C>TBenign10/24/2016 
54ATMEx30NM_000051.3:c.4578C>Tp.Pro1526= | p.P1526=LRG_135t1:c.4578C>T, NM_000051.3:c.4578C>T, NM_138292.3:c.534C>T, XM_005271561.1:c.4578C>T, XM_005271562.1:c.4578C>T, XM_005271563.1:c.4578C>T, XM_005271564.1:c.3534C>TBenign08/24/2017 
55ATMEx31NM_000051.3:c.4665C>Tp.Leu1555= | p.L1555=LRG_135t1:c.4665C>T, NM_000051.3:c.4665C>T, NM_138292.3:c.621C>T, XM_005271561.1:c.4665C>T, XM_005271562.1:c.4665C>T, XM_005271563.1:c.4665C>T, XM_005271564.1:c.3621C>TVOUS04/05/2016
56ATMEx31NM_000051.3:c.4724G>Ap.Arg1575His | p.R1575HLRG_135t1:c.4724G>A, NM_000051.3:c.4724G>A, NM_138292.3:c.680G>A, XM_005271561.1:c.4724G>A, XM_005271562.1:c.4724G>A, XM_005271563.1:c.4724G>A, XM_005271564.1:c.3680G>AVOUS02/17/2017
57ATMEx33NM_000051.3:c.4910-4C>TVOUS10/10/2019
58ATMEx33NM_000051.3:c.4949A>Gp.Asn1650Ser | p.N1650SNM_000051.3:c.4949A>G, NM_138292.3:c.905A>G, XM_005271561.1:c.4949A>G, XM_005271562.1:c.4949A>G, XM_005271563.1:c.4949A>G, XM_005271564.1:c.3905A>GBenign08/28/2015 
59ATMEx34NM_000051.3:c.5071A>Cp.Ser1691Arg | p.S1691RLRG_135t1:c.5071A>C, NM_000051.3:c.5071A>C, NM_138292.3:c.1027A>C, XM_005271561.1:c.5071A>C, XM_005271562.1:c.5071A>C, XM_005271563.1:c.5071A>C, XM_005271564.1:c.4027A>CBenign08/31/2016 
60ATMEx36NM_000051.3:c.5352C>Tp.Asn1784= | p.N1784=LRG_135t1:c.5352C>T, NM_000051.3:c.5352C>T, NM_138292.3:c.1308C>T, XM_005271561.1:c.5352C>T, XM_005271562.1:c.5352C>T, XM_005271563.1:c.5352C>T, XM_005271564.1:c.4308C>TVOUS09/21/2020
61ATMEx37NM_000051.3:c.5557G>Ap.Asp1853Asn | p.D1853NNM_000051.3:c.5557G>A, NM_138292.3:c.1513G>A, XM_005271416.1:c.*4236C>T, XM_005271561.1:c.5557G>A, XM_005271562.1:c.5557G>A, XM_005271563.1:c.5557G>A, XM_005271564.1:c.4513G>ABenign05/21/2015 
62ATMEx37NM_000051.3:c.5558A>Tp.Asp1853Val | p.D1853VLRG_135t1:c.5558A>T, NM_000051.3:c.5558A>T, NM_138292.3:c.1514A>T, XM_005271416.1:c.*4235T>A, XM_005271561.1:c.5558A>T, XM_005271562.1:c.5558A>T, XM_005271563.1:c.5558A>T, XM_005271564.1:c.4514A>TBenign09/27/2016 
63ATMEx39NM_000051.3:c.5763-1050A>G5762ins137, LRG_135t1:c.5763-1050A>G, Midlands, UK variant, NM_000051.3:c.5763-1050A>G, NM_138292.3:c.1719-1050A>G, XM_005271416.1:c.641-39T>C, XM_005271561.1:c.5763-1050A>G, XM_005271562.1:c.5763-1050A>G, XM_005271563.1:c.5763-1050A>G, XM_005271564.1:c.4719-1050A>GPathogenic12/12/2016 
64ATMEx39NM_000051.3:c.5793T>Cp.Ala1931= | p.A1931=LRG_135t1:c.5793T>C, NM_000051.3:c.5793T>C, NM_138292.3:c.1749T>C, XM_005271416.1:c.641-1119A>G, XM_005271561.1:c.5793T>C, XM_005271562.1:c.5793T>C, XM_005271563.1:c.5793T>C, XM_005271564.1:c.4749T>CBenign09/08/2015 
65ATMEx40NM_000051.3:c.5948A>Gp.Asn1983Ser | p.N1983SNM_000051.3:c.5948A>G, NM_138292.3:c.1904A>G, XM_005271416.1:c.641-3369T>C, XM_005271561.1:c.5948A>G, XM_005271562.1:c.5948A>G, XM_005271563.1:c.5948A>G, XM_005271564.1:c.4904A>GBenign07/08/2014 
66ATMEx41NM_000051.3:c.6088A>Gp.Ile2030Val | p.I2030VNM_000051.3:c.6088A>G, NM_138292.3:c.2044A>G, XM_005271416.1:c.641-6833T>C, XM_005271561.1:c.6088A>G, XM_005271562.1:c.6088A>G, XM_005271563.1:c.6088A>G, XM_005271564.1:c.5044A>GBenign01/07/2015 
67ATMEx43NM_000051.3:c.6228delTp.Leu2077Phefs*5 | p.L2077FfsX5LRG_135t1:c.6228delT, NM_000051.3:c.6228delT, NM_138292.3:c.2184delT, XM_005271416.1:c.641-8331delA, XM_005271561.1:c.6228delT, XM_005271562.1:c.6228delT, XM_005271563.1:c.6228delT, XM_005271564.1:c.5184delTPathogenic01/26/2018 
68ATMEx43NM_000051.3:c.6234C>Tp.Ser2078= | p.S2078=LRG_135t1:c.6234C>T, NM_000051.3:c.6234C>T, NM_138292.3:c.2190C>T, XM_005271416.1:c.641-8337G>A, XM_005271561.1:c.6234C>T, XM_005271562.1:c.6234C>T, XM_005271563.1:c.6234C>T, XM_005271564.1:c.5190C>TVOUS10/27/2016
69ATMEx44NM_000051.3:c.6443A>Gp.Lys2148Arg | p.K2148RNM_000051.3:c.6443A>G, NM_138292.3:c.2399A>G, XM_005271416.1:c.641-10978T>C, XM_005271561.1:c.6443A>G, XM_005271562.1:c.6443A>G, XM_005271563.1:c.6443A>G, XM_005271564.1:c.5399A>GVOUS06/17/2015
70ATMEx45NM_000051.3:c.6465G>Ap.Val2155= | p.V2155=LRG_135t1:c.6465G>A, NM_000051.3:c.6465G>A, NM_138292.3:c.2421G>A, XM_005271416.1:c.641-12242C>T, XM_005271561.1:c.6465G>A, XM_005271562.1:c.6465G>A, XM_005271563.1:c.6465G>A, XM_005271564.1:c.5421G>AVOUS11/03/2016
71ATMEx45NM_000051.3:c.6537T>Gp.Ile2179Met | p.I2179MLRG_135t1:c.6537T>G, NM_000051.3:c.6537T>G, NM_138292.3:c.2493T>G, XM_005271416.1:c.641-12314A>C, XM_005271561.1:c.6537T>G, XM_005271562.1:c.6537T>G, XM_005271563.1:c.6537T>G, XM_005271564.1:c.5493T>GVOUS03/31/2017
72ATMEx45NM_000051.3:c.6543G>Tp.Glu2181Asp | p.E2181DLRG_135t1:c.6543G>T, NM_000051.3:c.6543G>T, NM_138292.3:c.2499G>T, XM_005271416.1:c.641-12320C>A, XM_005271561.1:c.6543G>T, XM_005271562.1:c.6543G>T, XM_005271563.1:c.6543G>T, XM_005271564.1:c.5499G>TVOUS12/01/2016
73ATMEx47NM_000051.3:c.6814G>Ap.Glu2272Lys | p.E2272KLRG_135t1:c.6814G>A, NM_000051.3:c.6814G>A, NM_138292.3:c.2770G>A, XM_005271416.1:c.641-16993C>T, XM_005271561.1:c.6814G>A, XM_005271562.1:c.6814G>A, XM_005271563.1:c.6814G>A, XM_005271564.1:c.5770G>AVOUS02/22/2019
74ATMEx47NM_000051.3:c.6820G>Ap.Ala2274Thr | p.A2274TLRG_135t1:c.6820G>A, NM_000051.3:c.6820G>A, NM_138292.3:c.2776G>A, XM_005271416.1:c.641-16999C>T, XM_005271561.1:c.6820G>A, XM_005271562.1:c.6820G>A, XM_005271563.1:c.6820G>A, XM_005271564.1:c.5776G>AVOUS02/17/2017
75ATMEx47NM_000051.3:c.6919C>Tp.Leu2307Phe | p.L2307FLRG_135t1:c.6919C>T, NM_000051.3:c.6919C>T, NM_138292.3:c.2875C>T, XM_005271416.1:c.641-17098G>A, XM_005271561.1:c.6919C>T, XM_005271562.1:c.6919C>T, XM_005271563.1:c.6919C>T, XM_005271564.1:c.5875C>TBenign10/16/2018 
76ATMEx48NM_000051.3:c.6988C>Gp.Leu2330Val | p.L2330VLRG_135t1:c.6988C>G, NM_000051.3:c.6988C>G, NM_138292.3:c.2944C>G, XM_005271414.1:c.*3949G>C, XM_005271415.1:c.*3893G>C, XM_005271416.1:c.641-18586G>C, XM_005271561.1:c.6988C>G, XM_005271562.1:c.6988C>G, XM_005271563.1:c.6988C>G, XM_005271564.1:c.5944C>GVOUS05/22/2019
77ATMEx48NM_000051.3:c.6995T>Cp.Leu2332Pro | p.L2332PLRG_135t1:c.6995T>C, NM_000051.3:c.6995T>C, NM_138292.3:c.2951T>C, XM_005271414.1:c.*3942A>G, XM_005271415.1:c.*3886A>G, XM_005271416.1:c.641-18593A>G, XM_005271561.1:c.6995T>C, XM_005271562.1:c.6995T>C, XM_005271563.1:c.6995T>C, XM_005271564.1:c.5951T>CBenign12/01/2016 
78ATMEx49NM_000051.3:c.7187C>Gp.Thr2396Ser | p.T2396SLRG_135t1:c.7187C>G, NM_000051.3:c.7187C>G, NM_138292.3:c.3143C>G, XM_005271414.1:c.*2488G>C, XM_005271415.1:c.*2432G>C, XM_005271416.1:c.641-20047G>C, XM_005271561.1:c.7187C>G, XM_005271562.1:c.7187C>G, XM_005271563.1:c.7187C>G, XM_005271564.1:c.6143C>GVOUS05/14/2018
79ATMEx49NM_000051.3:c.7271T>Gp.Val2424Gly | p.V2424GPathogenic03/03/2020 
80ATMEx50NM_000051.3:c.7313C>Tp.Thr2438Ile | p.T2438ILRG_135t1:c.7313C>T, NM_000051.3:c.7313C>T, NM_138292.3:c.3269C>T, XM_005271414.1:c.*1387G>A, XM_005271415.1:c.*1331G>A, XM_005271416.1:c.641-21148G>A, XM_005271561.1:c.7313C>T, XM_005271562.1:c.7313C>T, XM_005271563.1:c.7313C>T, XM_005271564.1:c.6269C>TVOUS06/05/2018
81ATMEx50NM_000051.3:c.7475T>Gp.Leu2492Arg | p.L2492RLRG_135t1:c.7475T>G, NM_000051.3:c.7475T>G, NM_138292.3:c.3431T>G, XM_005271414.1:c.*1225A>C, XM_005271415.1:c.*1169A>C, XM_005271416.1:c.641-21310A>C, XM_005271561.1:c.7475T>G, XM_005271562.1:c.7475T>G, XM_005271563.1:c.7475T>G, XM_005271564.1:c.6431T>GVOUS02/21/2017
82ATMEx51NM_000051.3:c.7592T>Cp.Met2531Thr | p.M2531TLRG_135t1:c.7592T>C, NM_000051.3:c.7592T>C, NM_138292.3:c.3548T>C, XM_005271414.1:c.*86A>G, XM_005271415.1:c.*30A>G, XM_005271416.1:c.641-22449A>G, XM_005271561.1:c.7592T>C, XM_005271562.1:c.7592T>C, XM_005271563.1:c.7592T>C, XM_005271564.1:c.6548T>CVOUS08/05/2016
83ATMEx52NM_000051.3:c.7638_7646delTAGAATTTCp.Arg2547_Ser2549del | p.R2547_S2549delLRG_135t1:c.7638_7646delTAGAATTTC, NM_000051.3:c.7638_7646delTAGAATTTC, NM_138292.3:c.3594_3602delTAGAATTTC, XM_005271414.1:c.*39-328_*39-320delGAAATTCTA, XM_005271415.1:c.805-328_805-320delGAAATTCTA, XM_005271416.1:c.641-22824_641-22816delGAAATTCTA, XM_005271561.1:c.7638_7646delTAGAATTTC, XM_005271562.1:c.7638_7646delTAGAATTTC, XM_005271563.1:c.7638_7646delTAGAATTTC, XM_005271564.1:c.6594_6602delTAGAATTTCPathogenic07/17/2019 
84ATMEx52NM_000051.3:c.7757A>Gp.Asn2586Ser | p.N2586SLRG_135t1:c.7757A>G, NM_000051.3:c.7757A>G, NM_138292.3:c.3713A>G, XM_005271414.1:c.*39-439T>C, XM_005271415.1:c.805-439T>C, XM_005271416.1:c.641-22935T>C, XM_005271561.1:c.7757A>G, XM_005271562.1:c.7757A>G, XM_005271563.1:c.7757A>G, XM_005271564.1:c.6713A>GVOUS09/29/2015
85ATMEx52NM_000051.3:c.7788+8G>TLRG_135t1:c.7788+8G>T, NM_000051.3:c.7788+8G>T, NM_138292.3:c.3744+8G>T, XM_005271414.1:c.*39-478C>A, XM_005271415.1:c.805-478C>A, XM_005271416.1:c.641-22974C>A, XM_005271561.1:c.7788+8G>T, XM_005271562.1:c.7788+8G>T, XM_005271563.1:c.7788+8G>T, XM_005271564.1:c.6744+8G>TLikely benign05/29/2018 
86ATMEx54NM_000051.3:c.7928-10T>CLRG_135t1:c.7928-10T>C, NM_000051.3:c.7928-10T>C, NM_138292.3:c.3884-10T>C, XM_005271414.1:c.*38+1344A>G, XM_005271415.1:c.804+1344A>G, XM_005271416.1:c.641-24805A>G, XM_005271561.1:c.7928-10T>C, XM_005271562.1:c.7928-10T>C, XM_005271563.1:c.7928-10T>C, XM_005271564.1:c.6884-10T>CLikely benign05/29/2018 
87ATMEx56NM_000051.3:c.8266A>Tp.Lys2756* | p.K2756XLRG_135t1:c.8266A>T, NM_000051.3:c.8266A>T, NM_138292.3:c.4222A>T, XM_005271414.1:c.788-667T>A, XM_005271415.1:c.732-667T>A, XM_005271416.1:c.641-26888T>A, XM_005271561.1:c.8266A>T, XM_005271562.1:c.8266A>T, XM_005271563.1:c.8266A>T, XM_005271564.1:c.7222A>TPathogenic05/25/2021 
88ATMEx58NM_000051.3:c.8518T>Cp.Leu2840= | p.L2840=NM_000051.3:c.8518T>C, NM_138292.3:c.4474T>C, XM_005271414.1:c.788-10550A>G, XM_005271415.1:c.732-10550A>G, XM_005271416.1:c.641-36771A>G, XM_005271561.1:c.8518T>C, XM_005271562.1:c.8518T>C, XM_005271563.1:c.8518T>C, XM_005271564.1:c.7474T>CVOUS11/21/2014
89ATMEx58NM_000051.3:c.8545C>Tp.Arg2849* | p.R2849XLRG_135t1:c.8545C>T, NM_000051.3:c.8545C>T, NM_138292.3:c.4501C>T, XM_005271414.1:c.788-10577G>A, XM_005271415.1:c.732-10577G>A, XM_005271416.1:c.641-36798G>A, XM_005271561.1:c.8545C>T, XM_005271562.1:c.8545C>T, XM_005271563.1:c.8545C>T, XM_005271564.1:c.7501C>TPathogenic08/15/2016 
90ATMEx58NM_000051.3:c.8560C>Tp.Arg2854Cys | p.R2854CLRG_135t1:c.8560C>T, NM_000051.3:c.8560C>T, NM_138292.3:c.4516C>T, XM_005271414.1:c.788-10592G>A, XM_005271415.1:c.732-10592G>A, XM_005271416.1:c.641-36813G>A, XM_005271561.1:c.8560C>T, XM_005271562.1:c.8560C>T, XM_005271563.1:c.8560C>T, XM_005271564.1:c.7516C>TVOUS03/30/2015
91ATMEx62NM_000051.3:c.8987+3G>ALRG_135t1:c.8987+3G>A, NM_000051.3:c.8987+3G>A, NM_138292.3:c.4943+3G>A, XM_005271414.1:c.787+20699C>T, XM_005271415.1:c.731+27987C>T, XM_005271416.1:c.640+20699C>T, XM_005271561.1:c.8987+3G>A, XM_005271562.1:c.8987+3G>A, XM_005271563.1:c.8987+3G>A, XM_005271564.1:c.7943+3G>AVOUS03/14/2016
92GATMEx1NM_001482.2:c.-9G>TNM_001482.2:c.-9G>T, NR_033252.1:n.-238C>AVOUS02/04/2019
93GATMEx2NM_001482.2:c.160G>Ap.Asp54Asn | p.D54NNM_001482.2:c.160G>A, NR_033252.1:n.-1971C>TVOUS02/10/2018
94GATMEx4NM_001482.2:c.669T>Cp.Tyr223= | p.Y223=NM_001482.2:c.669T>CVOUS03/07/2019
95GATMEx5NM_001482.2:c.692C>Gp.Ser231Cys | p.S231CNM_001482.2:c.692C>GVOUS02/20/2017
96GATMEx5NM_001482.2:c.801A>Cp.Ala267= | p.A267=NM_001482.2:c.801A>CVOUS03/31/2020
97GATMEx6NM_001482.2:c.844C>Tp.Arg282Cys | p.R282CNM_001482.2:c.844C>TVOUS09/04/2019
98GATMEx6NM_001482.2:c.869G>Cp.Arg290Thr | p.R290TNM_001482.2:c.869G>CVOUS11/06/2014
99GATMEx6NM_001482.2:c.967C>Gp.Pro323Ala | p.P323ANM_001482.2:c.967C>GVOUS07/24/2019
100GATMEx7NM_001482.2:c.1000G>Ap.Gly334Arg | p.G334RNM_001482.2:c.1000G>AVOUS05/24/2019
101GATMEx8NM_001482.2:c.1106G>Ap.Arg369His | p.R369HNM_001482.2:c.1106G>AVOUS12/22/2016
102GATMEx9NM_001482.2:c.1237C>Tp.Arg413Trp | p.R413WNM_001482.2:c.1237C>TVOUS08/13/2018

* 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.