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  
1CNTNAP2Ex1NM_014141.5:c.18C>Ap.Arg6= | p.R6=NM_014141.4:c.18C>A, NM_014141.5:c.18C>AVOUS07/23/2015
2CNTNAP2Ex1NM_014141.5:c.29G>Ap.Gly10Glu | p.G10ENM_014141.4:c.29G>A, NM_014141.5:c.29G>AVOUS09/20/2016
3CNTNAP2Ex1NM_014141.5:c.48G>Tp.Trp16Cys | p.W16CNM_014141.4:c.48G>T, NM_014141.5:c.48G>TVOUS07/14/2016
4CNTNAP2Ex1NM_014141.5:c.58A>Gp.Ser20Gly | p.S20GNM_014141.4:c.58A>G, NM_014141.5:c.58A>GVOUS05/30/2019
5CNTNAP2Ex1NM_014141.5:c.65T>Cp.Leu22Pro | p.L22PNM_014141.4:c.65T>C, NM_014141.5:c.65T>CVOUS06/09/2016
6CNTNAP2Ex1NM_014141.5:c.73G>Ap.Ala25Thr | p.A25TNM_014141.4:c.73G>A, NM_014141.5:c.73G>AVOUS10/31/2019
7CNTNAP2Ex1NM_014141.5:c.97C>Ap.Gln33Lys | p.Q33KNM_014141.4:c.97C>A, NM_014141.5:c.97C>AVOUS06/01/2015
8CNTNAP2Ex2NM_014141.5:c.136G>Ap.Val46Met | p.V46MNM_014141.4:c.136G>A, NM_014141.5:c.136G>AVOUS03/03/2015
9CNTNAP2Ex2NM_014141.5:c.180C>Tp.Pro60= | p.P60=NM_014141.4:c.180C>T, NM_014141.5:c.180C>TVOUS08/06/2015
10CNTNAP2Ex2NM_014141.5:c.208+6C>ANM_014141.4:c.208+6C>A, NM_014141.5:c.208+6C>AVOUS03/12/2019
11CNTNAP2Ex3NM_014141.5:c.237C>Tp.Ser79= | p.S79=NM_014141.4:c.237C>T, NM_014141.5:c.237C>TVOUS07/29/2013
12CNTNAP2Ex3NM_014141.5:c.273T>Cp.Asn91= | p.N91=NM_014141.4:c.273T>C, NM_014141.5:c.273T>CVOUS05/21/2015
13CNTNAP2Ex3NM_014141.5:c.282G>Tp.Gln94His | p.Q94HNM_014141.4:c.282G>T, NM_014141.5:c.282G>TVOUS07/19/2019
14CNTNAP2Ex3NM_014141.5:c.340C>Tp.Arg114Trp | p.R114WNM_014141.4:c.340C>T, NM_014141.5:c.340C>TVOUS11/12/2019
15CNTNAP2Ex3NM_014141.5:c.341G>Ap.Arg114Gln | p.R114QNM_014141.4:c.341G>A, NM_014141.5:c.341G>AVOUS04/02/2015
16CNTNAP2Ex3NM_014141.5:c.354C>Tp.Ser118= | p.S118=VOUS04/30/2013
17CNTNAP2Ex3NM_014141.5:c.355G>Ap.Asp119Asn | p.D119NNM_014141.4:c.355G>A, NM_014141.5:c.355G>AVOUS11/07/2019
18CNTNAP2Ex3NM_014141.5:c.387A>Gp.Gln129= | p.Q129=NM_014141.4:c.387A>G, NM_014141.5:c.387A>GVOUS02/13/2019
19CNTNAP2Ex3NM_014141.5:c.400T>Gp.Trp134Gly | p.W134GNM_014141.4:c.400T>G, NM_014141.5:c.400T>GVOUS12/10/2018
20CNTNAP2Ex4NM_014141.5:c.479G>Ap.Arg160His | p.R160HNM_014141.4:c.479G>A, NM_014141.5:c.479G>AVOUS01/10/2017
21CNTNAP2Ex4NM_014141.5:c.515T>Cp.Ile172Thr | p.I172TNM_014141.4:c.515T>C, NM_014141.5:c.515T>CLikely benign06/07/2017 
22CNTNAP2Ex5NM_014141.5:c.551-11T>GNM_014141.4:c.551-11T>G, NM_014141.5:c.551-11T>GBenign08/20/2015 
23CNTNAP2Ex5NM_014141.5:c.551-11_551-10insGNM_014141.4:c.551-11_551-10insG, NM_014141.5:c.551-11_551-10insGBenign05/28/2013 
24CNTNAP2Ex5NM_014141.5:c.551-8dupTNM_014141.4:c.551-8_551-7insT, NM_014141.5:c.551-8_551-7insTLikely benign01/12/2015 
25CNTNAP2Ex5NM_014141.5:c.632T>Cp.Val211Ala | p.V211ANM_014141.4:c.632T>C, NM_014141.5:c.632T>CVOUS07/19/2019
26CNTNAP2Ex5NM_014141.5:c.633C>Ap.Val211= | p.V211=NM_014141.4:c.633C>A, NM_014141.5:c.633C>AVOUS04/14/2020
27CNTNAP2Ex5NM_014141.5:c.653C>Tp.Thr218Met | p.T218MNM_014141.4:c.653C>T, NM_014141.5:c.653C>TVOUS06/28/2018
28CNTNAP2Ex5NM_014141.5:c.676C>Ap.Leu226Met | p.L226MNM_014141.4:c.676C>A, NM_014141.5:c.676C>AVOUS07/12/2018
29CNTNAP2Ex5NM_014141.5:c.681C>Tp.His227= | p.H227=NM_014141.4:c.681C>T, NM_014141.5:c.681C>TBenign01/07/2016 
30CNTNAP2Ex6NM_014141.5:c.755-5C>TNM_014141.4:c.755-5C>T, NM_014141.5:c.755-5C>TVOUS04/24/2017
31CNTNAP2Ex6NM_014141.5:c.847C>Tp.Arg283Cys | p.R283CNM_014141.4:c.847C>T, NM_014141.5:c.847C>TVOUS02/23/2015
32CNTNAP2Ex6NM_014141.5:c.854G>Cp.Gly285Ala | p.G285ANM_014141.4:c.854G>C, NM_014141.5:c.854G>CBenign09/06/2012 
33CNTNAP2Ex7NM_014141.5:c.945C>Gp.Thr315= | p.T315=NM_014141.4:c.945C>G, NM_014141.5:c.945C>GVOUS09/16/2014
34CNTNAP2Ex7NM_014141.5:c.965C>Tp.Ser322Phe | p.S322FNM_014141.4:c.965C>T, NM_014141.5:c.965C>TVOUS08/31/2016
35CNTNAP2Ex7NM_014141.5:c.1037A>Gp.Asn346Ser | p.N346SNM_014141.4:c.1037A>G, NM_014141.5:c.1037A>GVOUS10/27/2014
36CNTNAP2Ex7NM_014141.5:c.1051G>Ap.Ala351Thr | p.A351TNM_014141.4:c.1051G>A, NM_014141.5:c.1051G>AVOUS07/31/2019
37CNTNAP2Ex7NM_014141.5:c.1079A>Gp.Asn360Ser | p.N360SNM_014141.4:c.1079A>G, NM_014141.5:c.1079A>GVOUS07/20/2014
38CNTNAP2Ex7NM_014141.5:c.1083G>Ap.Val361= | p.V361=NM_014141.4:c.1083G>A, NM_014141.5:c.1083G>ABenign07/17/2013 
39CNTNAP2Ex8NM_014141.5:c.1105G>Tp.Val369Leu | p.V369LVOUS03/03/2020
40CNTNAP2Ex8NM_014141.5:c.1140T>Ap.Ala380= | p.A380=NM_014141.4:c.1140T>A, NM_014141.5:c.1140T>AVOUS11/02/2015
41CNTNAP2Ex8NM_014141.5:c.1145G>Ap.Ser382Asn | p.S382NNM_014141.4:c.1145G>A, NM_014141.5:c.1145G>ALikely benign09/28/2017 
42CNTNAP2Ex8NM_014141.5:c.1161C>Ap.Pro387= | p.P387=NM_014141.4:c.1161C>A, NM_014141.5:c.1161C>AVOUS03/22/2021
43CNTNAP2Ex8NM_014141.5:c.1162G>Ap.Gly388Arg | p.G388RNM_014141.4:c.1162G>A, NM_014141.5:c.1162G>AVOUS03/09/2021
44CNTNAP2Ex8NM_014141.5:c.1165C>Tp.Arg389Trp | p.R389WNM_014141.4:c.1165C>T, NM_014141.5:c.1165C>TVOUS04/05/2018
45CNTNAP2Ex8NM_014141.5:c.1220A>Gp.Asn407Ser | p.N407SNM_014141.4:c.1220A>G, NM_014141.5:c.1220A>GBenign10/13/2013 
46CNTNAP2Ex8NM_014141.5:c.1247C>Tp.Ala416Val | p.A416VNM_014141.4:c.1247C>T, NM_014141.5:c.1247C>TBenign** 
47CNTNAP2Ex8NM_014141.5:c.1311C>Tp.Ile437= | p.I437=NM_014141.4:c.1311C>T, NM_014141.5:c.1311C>TLikely benign07/21/2016 
48CNTNAP2Ex9NM_014141.5:c.1385G>Ap.Arg462His | p.R462HNM_014141.4:c.1385G>A, NM_014141.5:c.1385G>AVOUS09/21/2020
49CNTNAP2Ex9NM_014141.5:c.1455T>Cp.Asn485= | p.N485=NM_014141.4:c.1455T>C, NM_014141.5:c.1455T>CVOUS09/28/2015
50CNTNAP2Ex10NM_014141.5:c.1504C>Gp.Leu502Val | p.L502VNM_014141.4:c.1504C>G, NM_014141.5:c.1504C>GVOUS06/07/2018
51CNTNAP2Ex10NM_014141.5:c.1526G>Ap.Ser509Asn | p.S509NNM_014141.4:c.1526G>A, NM_014141.5:c.1526G>AVOUS06/23/2014
52CNTNAP2Ex10NM_014141.5:c.1566G>Ap.Gln522= | p.Q522=NM_014141.4:c.1566G>A, NM_014141.5:c.1566G>ALikely benign09/28/2015 
53CNTNAP2Ex10NM_014141.5:c.1581C>Tp.Asp527= | p.D527=NM_014141.4:c.1581C>T, NM_014141.5:c.1581C>TVOUS09/15/2015
54CNTNAP2Ex10NM_014141.5:c.1603G>Ap.Glu535Lys | p.E535KNM_014141.4:c.1603G>A, NM_014141.5:c.1603G>AVOUS08/20/2014
55CNTNAP2Ex10NM_014141.5:c.1620G>Cp.Lys540Asn | p.K540NNM_014141.4:c.1620G>C, NM_014141.5:c.1620G>CVOUS04/05/2021
56CNTNAP2Ex10NM_014141.5:c.1628delGp.Ser543Ilefs*13 | p.S543IfsX13NM_014141.4:c.1628delG, NM_014141.5:c.1628delGPathogenic07/11/2019 
57CNTNAP2Ex10NM_014141.5:c.1659G>Ap.Ala553= | p.A553=NM_014141.4:c.1659G>A, NM_014141.5:c.1659G>ABenign08/16/2012 
58CNTNAP2Ex11NM_014141.5:c.1710G>Ap.Ser570= | p.S570=Benign12/18/2012 
59CNTNAP2Ex11NM_014141.5:c.1723A>Tp.Ser575Cys | p.S575CNM_014141.4:c.1723A>T, NM_014141.5:c.1723A>TVOUS02/06/2018
60CNTNAP2Ex11NM_014141.5:c.1769G>Ap.Cys590Tyr | p.C590YNM_014141.4:c.1769G>A, NM_014141.5:c.1769G>AVOUS06/18/2013
61CNTNAP2Ex11NM_014141.5:c.1777+7G>ANM_014141.4:c.1777+7G>A, NM_014141.5:c.1777+7G>AVOUS11/23/2015
62CNTNAP2Ex11NM_014141.5:c.1777+10A>GNM_014141.4:c.1777+10A>G, NM_014141.5:c.1777+10A>GBenign08/16/2012 
63CNTNAP2Ex12NM_014141.5:c.1846C>Tp.Pro616Ser | p.P616SNM_014141.4:c.1846C>T, NM_014141.5:c.1846C>TVOUS10/30/2015
64CNTNAP2Ex12NM_014141.5:c.1858G>Ap.Gly620Arg | p.G620RNM_014141.4:c.1858G>A, NM_014141.5:c.1858G>AVOUS04/24/2019
65CNTNAP2Ex12NM_014141.5:c.1896A>Cp.Thr632= | p.T632=NM_014141.4:c.1896A>C, NM_014141.5:c.1896A>CVOUS08/21/2017
66CNTNAP2Ex12NM_014141.5:c.1897+8T>AVOUS07/07/2020
67CNTNAP2Ex13NM_014141.5:c.2023A>Gp.Ile675Val | p.I675VNM_014141.4:c.2023A>G, NM_014141.5:c.2023A>GVOUS10/16/2015
68CNTNAP2Ex14NM_014141.5:c.2123T>Cp.Val708Ala | p.V708ANM_014141.4:c.2123T>C, NM_014141.5:c.2123T>CLikely benign11/02/2015 
69CNTNAP2Ex14NM_014141.5:c.2136C>Tp.Asn712= | p.N712=NM_014141.4:c.2136C>T, NM_014141.5:c.2136C>TVOUS12/16/2016
70CNTNAP2Ex14NM_014141.5:c.2147A>Gp.Tyr716Cys | p.Y716CNM_014141.4:c.2147A>G, NM_014141.5:c.2147A>GVOUS08/12/2015
71CNTNAP2Ex14NM_014141.5:c.2153G>Ap.Trp718* | p.W718XNM_014141.4:c.2153G>A, NM_014141.5:c.2153G>APathogenic08/16/2012 
72CNTNAP2Ex14NM_014141.5:c.2190C>Tp.Cys730= | p.C730=NM_014141.4:c.2190C>T, NM_014141.5:c.2190C>TLikely benign10/23/2019 
73CNTNAP2Ex14NM_014141.5:c.2227T>Cp.Cys743Arg | p.C743RNM_014141.4:c.2227T>C, NM_014141.5:c.2227T>CVOUS07/13/2015
74CNTNAP2Ex14NM_014141.5:c.2239G>Ap.Ala747Thr | p.A747TNM_014141.4:c.2239G>A, NM_014141.5:c.2239G>AVOUS04/08/2016
75CNTNAP2Ex14NM_014141.5:c.2242G>Tp.Asp748Tyr | p.D748YNM_014141.4:c.2242G>T, NM_014141.5:c.2242G>TVOUS04/23/2018
76CNTNAP2Ex15NM_014141.5:c.2256-6A>TNM_014141.4:c.2256-6A>T, NM_014141.5:c.2256-6A>TBenign03/27/2013 
77CNTNAP2Ex15NM_014141.5:c.2280A>Gp.Ser760= | p.S760=NM_014141.4:c.2280A>G, NM_014141.5:c.2280A>GBenign05/17/2013 
78CNTNAP2Ex15NM_014141.5:c.2292C>Tp.His764= | p.H764=NM_014141.4:c.2292C>T, NM_014141.5:c.2292C>TVOUS08/26/2020
79CNTNAP2Ex15NM_014141.5:c.2330G>Cp.Arg777Pro | p.R777PNM_014141.4:c.2330G>C, NM_014141.5:c.2330G>CVOUS01/26/2015
80CNTNAP2Ex15NM_014141.5:c.2356G>Tp.Val786Leu | p.V786LNM_014141.4:c.2356G>T, NM_014141.5:c.2356G>TBenign04/24/2015 
81CNTNAP2Ex15NM_014141.5:c.2369G>Ap.Arg790His | p.R790HNM_014141.4:c.2369G>A, NM_014141.5:c.2369G>AVOUS03/13/2015
82CNTNAP2Ex16NM_014141.5:c.2424C>Tp.Ser808= | p.S808=NM_014141.4:c.2424C>T, NM_014141.5:c.2424C>TVOUS03/20/2015
83CNTNAP2Ex16NM_014141.5:c.2460C>Ap.Ser820Arg | p.S820RNM_014141.4:c.2460C>A, NM_014141.5:c.2460C>AVOUS03/06/2015
84CNTNAP2Ex16NM_014141.5:c.2508T>Cp.Phe836= | p.F836=NM_014141.4:c.2508T>C, NM_014141.5:c.2508T>CVOUS09/22/2020
85CNTNAP2Ex17NM_014141.5:c.2593G>Ap.Gly865Arg | p.G865RNM_014141.4:c.2593G>A, NM_014141.5:c.2593G>AVOUS11/11/2015
86CNTNAP2Ex17NM_014141.5:c.2609T>Cp.Val870Ala | p.V870ANM_014141.4:c.2609T>C, NM_014141.5:c.2609T>CVOUS05/02/2017
87CNTNAP2Ex17NM_014141.5:c.2698C>Ap.Arg900= | p.R900=VOUS04/30/2013
88CNTNAP2Ex17NM_014141.5:c.2716C>Tp.Arg906Cys | p.R906CNM_014141.4:c.2716C>T, NM_014141.5:c.2716C>TVOUS06/11/2018
89CNTNAP2Ex18NM_014141.5:c.2839C>Tp.Leu947Phe | p.L947FNM_014141.4:c.2839C>T, NM_014141.5:c.2839C>TVOUS07/31/2015
90CNTNAP2Ex18NM_014141.5:c.2892G>Ap.Ser964= | p.S964=NM_014141.4:c.2892G>A, NM_014141.5:c.2892G>ABenign08/09/2013 
91CNTNAP2Ex19NM_014141.5:c.3105C>Tp.Asn1035= | p.N1035=NM_014141.4:c.3105C>T, NM_014141.5:c.3105C>TLikely benign04/04/2014 
92CNTNAP2Ex19NM_014141.5:c.3111C>Tp.Pro1037= | p.P1037=NM_014141.4:c.3111C>T, NM_014141.5:c.3111C>TVOUS04/03/2015
93CNTNAP2Ex19NM_014141.5:c.3132G>Ap.Pro1044= | p.P1044=NM_014141.4:c.3132G>A, NM_014141.5:c.3132G>AVOUS09/30/2016
94CNTNAP2Ex19NM_014141.5:c.3154C>Tp.Arg1052Cys | p.R1052CNM_014141.4:c.3154C>T, NM_014141.5:c.3154C>TVOUS11/21/2018
95CNTNAP2Ex19NM_014141.5:c.3179C>Tp.Ala1060Val | p.A1060VNM_014141.4:c.3179C>T, NM_014141.5:c.3179C>TVOUS02/27/2019
96CNTNAP2Ex19NM_014141.5:c.3180G>Ap.Ala1060= | p.A1060=NM_014141.4:c.3180G>A, NM_014141.5:c.3180G>AVOUS01/20/2016
97CNTNAP2Ex19NM_014141.5:c.3193C>Ap.Leu1065Ile | p.L1065INM_014141.4:c.3193C>A, NM_014141.5:c.3193C>AVOUS02/16/2021
98CNTNAP2Ex20NM_014141.5:c.3248-6C>AVOUS12/14/2019
99CNTNAP2Ex20NM_014141.5:c.3248-4A>GNM_014141.4:c.3248-4A>G, NM_014141.5:c.3248-4A>GBenign01/17/2014 
100CNTNAP2Ex20NM_014141.5:c.3248-3T>CNM_014141.4:c.3248-3T>C, NM_014141.5:c.3248-3T>CVOUS07/14/2014
101CNTNAP2Ex20NM_014141.5:c.3305T>Cp.Val1102Ala | p.V1102ANM_014141.4:c.3305T>C, NM_014141.5:c.3305T>CLikely benign07/30/2015 
102CNTNAP2Ex20NM_014141.5:c.3335C>Tp.Pro1112Leu | p.P1112LNM_014141.4:c.3335C>T, NM_014141.5:c.3335C>TVOUS01/15/2014
103CNTNAP2Ex20NM_014141.5:c.3355C>Tp.Arg1119Cys | p.R1119CNM_014141.4:c.3355C>T, NM_014141.5:c.3355C>TVOUS07/09/2019
104CNTNAP2Ex20NM_014141.5:c.3381+17A>CNM_014141.4:c.3381+17A>C, NM_014141.5:c.3381+17A>CBenign12/12/2013 
105CNTNAP2Ex21NM_014141.5:c.3382-7C>TBenign09/26/2012 
106CNTNAP2Ex21NM_014141.5:c.3402G>Ap.Val1134= | p.V1134=NM_014141.4:c.3402G>A, NM_014141.5:c.3402G>AVOUS04/04/2014
107CNTNAP2Ex21NM_014141.5:c.3431C>Gp.Thr1144Ser | p.T1144SNM_014141.4:c.3431C>G, NM_014141.5:c.3431C>GVOUS01/13/2016
108CNTNAP2Ex22NM_014141.5:c.3476-8dupTNM_014141.4:c.3476-8_3476-7insT, NM_014141.5:c.3476-8_3476-7insTVOUS03/30/2015
109CNTNAP2Ex22NM_014141.5:c.3522A>Tp.Gly1174= | p.G1174=NM_014141.4:c.3522A>T, NM_014141.5:c.3522A>TVOUS09/28/2015
110CNTNAP2Ex22NM_014141.5:c.3595G>Tp.Ala1199Ser | p.A1199SNM_014141.4:c.3595G>T, NM_014141.5:c.3595G>TVOUS01/16/2014
111CNTNAP2Ex22NM_014141.5:c.3600G>Ap.Ser1200= | p.S1200=NM_014141.4:c.3600G>A, NM_014141.5:c.3600G>AVOUS07/05/2016
112CNTNAP2Ex22NM_014141.5:c.3633G>Ap.Glu1211= | p.E1211=NM_014141.4:c.3633G>A, NM_014141.5:c.3633G>ABenign12/05/2012 
113CNTNAP2Ex22NM_014141.5:c.3678C>Tp.Ser1226= | p.S1226=NM_014141.4:c.3678C>T, NM_014141.5:c.3678C>TVOUS12/17/2014
114CNTNAP2Ex22NM_014141.5:c.3680C>Tp.Ala1227Val | p.A1227VNM_014141.4:c.3680C>T, NM_014141.5:c.3680C>TVOUS01/23/2017
115CNTNAP2Ex23NM_014141.5:c.3716-10_3716-7dupTTCTNM_014141.4:c.3716-10_3716-7dup, NM_014141.4:c.3716-7_3716-6insTTCT, NM_014141.5:c.3716-10_3716-7dup, NM_014141.5:c.3716-7_3716-6insTTCTBenign05/17/2013 
116CNTNAP2Ex23NM_014141.5:c.3716-6C>GNM_014141.4:c.3716-6C>G, NM_014141.5:c.3716-6C>GBenign08/20/2015 
117CNTNAP2Ex23NM_014141.5:c.3716-6_3716-5insCGNM_014141.4:c.3716-6_3716-5insCG, NM_014141.5:c.3716-6_3716-5insCGVOUS05/03/2017
118CNTNAP2Ex23NM_014141.5:c.3723G>Ap.Ala1241= | p.A1241=NM_014141.4:c.3723G>A, NM_014141.5:c.3723G>ABenign05/17/2013 
119CNTNAP2Ex23NM_014141.5:c.3741A>Cp.Pro1247= | p.P1247=NM_014141.4:c.3741A>C, NM_014141.5:c.3741A>CVOUS02/03/2015
120CNTNAP2Ex23NM_014141.5:c.3758T>Cp.Ile1253Thr | p.I1253TNM_014141.4:c.3758T>C, NM_014141.5:c.3758T>CVOUS07/03/2019
121CNTNAP2Ex23NM_014141.5:c.3796+4G>CNM_014141.4:c.3796+4G>C, NM_014141.5:c.3796+4G>CVOUS06/16/2016
122CNTNAP2Ex24NM_014141.5:c.3857T>Cp.Met1286Thr | p.M1286TNM_014141.4:c.3857T>C, NM_014141.5:c.3857T>CVOUS08/30/2018
123CNTNAP2Ex24NM_014141.5:c.3902C>Tp.Ala1301Val | p.A1301VNM_014141.4:c.3902C>T, NM_014141.5:c.3902C>TVOUS10/25/2016
124CNTNAP2Ex24NM_014141.5:c.3903G>Ap.Ala1301= | p.A1301=NM_014141.4:c.3903G>A, NM_014141.5:c.3903G>AVOUS08/29/2019
125CNTNAP2Ex24NM_014141.5:c.3927C>Tp.Ala1309= | p.A1309=NM_014141.4:c.3927C>T, NM_014141.5:c.3927C>TVOUS09/14/2017
126CNTNAP2Ex24NM_014141.5:c.3969T>Gp.Asp1323Glu | p.D1323ENM_014141.4:c.3969T>G, NM_014141.5:c.3969T>GVOUS05/05/2016

* 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.