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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  
1CDH23Ex4NM_022124.5:c.146-2A>GNM_001171930.1:c.146-2A>G, NM_001171931.1:c.146-2A>G, NM_001171932.1:c.146-2A>G, NM_022124.4:c.146-2A>G, NM_022124.5:c.146-2A>G, NM_052836.2:c.146-2A>G, NM_052836.3:c.146-2A>GPathogenic07/30/2014 
2CDH23Ex4NM_022124.5:c.198G>Ap.Val66= | p.V66=NM_001171930.1:c.198G>A, NM_001171931.1:c.198G>A, NM_001171932.1:c.198G>A, NM_022124.4:c.198G>A, NM_022124.5:c.198G>A, NM_052836.2:c.198G>A, NM_052836.3:c.198G>ABenign09/26/2015 
3CDH23Ex4NM_022124.5:c.259G>Tp.Val87Leu | p.V87LNM_001171930.1:c.259G>T, NM_001171931.1:c.259G>T, NM_001171932.1:c.259G>T, NM_022124.4:c.259G>T, NM_022124.5:c.259G>T, NM_052836.2:c.259G>T, NM_052836.3:c.259G>TVOUS09/28/2016
4CDH23Ex5NM_022124.5:c.310G>Ap.Glu104Lys | p.E104KNM_001171930.1:c.310G>A, NM_001171931.1:c.310G>A, NM_001171932.1:c.310G>A, NM_022124.4:c.310G>A, NM_022124.5:c.310G>A, NM_052836.2:c.310G>A, NM_052836.3:c.310G>AVOUS05/19/2015
5CDH23Ex5NM_022124.5:c.330C>Tp.His110= | p.H110=NM_001171930.1:c.330C>T, NM_001171931.1:c.330C>T, NM_001171932.1:c.330C>T, NM_022124.4:c.330C>T, NM_022124.5:c.330C>T, NM_052836.2:c.330C>T, NM_052836.3:c.330C>TVOUS01/08/2019
6CDH23Ex6NM_022124.5:c.385G>Ap.Ala129Thr | p.A129TNM_001171930.1:c.385G>A, NM_001171931.1:c.385G>A, NM_001171932.1:c.385G>A, NM_022124.4:c.385G>A, NM_022124.5:c.385G>A, NM_052836.2:c.385G>A, NM_052836.3:c.385G>AVOUS09/22/2015
7CDH23Ex7NM_022124.5:c.586G>Cp.Glu196Gln | p.E196QNM_001171930.1:c.586G>C, NM_001171931.1:c.586G>C, NM_001171932.1:c.586G>C, NM_022124.4:c.586G>C, NM_022124.5:c.586G>C, NM_052836.2:c.586G>C, NM_052836.3:c.586G>C, XR_246128.1:n.162-1764C>GVOUS03/27/2018
8CDH23Ex7NM_022124.5:c.619G>Ap.Ala207Thr | p.A207TNM_001171930.1:c.619G>A, NM_001171931.1:c.619G>A, NM_001171932.1:c.619G>A, NM_022124.4:c.619G>A, NM_022124.5:c.619G>A, NM_052836.2:c.619G>A, NM_052836.3:c.619G>A, XR_246128.1:n.162-1797C>TVOUS01/20/2015
9CDH23Ex10NM_022124.5:c.870C>Tp.Ser290= | p.S290=NM_001171930.1:c.870C>T, NM_001171931.1:c.870C>T, NM_001171932.1:c.870C>T, NM_022124.4:c.870C>T, NM_022124.5:c.870C>T, NM_052836.2:c.870C>T, NM_052836.3:c.870C>TVOUS02/28/2017
10CDH23Ex10NM_022124.5:c.901C>Tp.Arg301Trp | p.R301WNM_001171930.1:c.901C>T, NM_001171931.1:c.901C>T, NM_001171932.1:c.901C>T, NM_022124.4:c.901C>T, NM_022124.5:c.901C>T, NM_052836.2:c.901C>T, NM_052836.3:c.901C>TVOUS02/06/2017
11CDH23Ex10NM_022124.5:c.902G>Ap.Arg301Gln | p.R301QNM_001171930.1:c.902G>A, NM_001171931.1:c.902G>A, NM_001171932.1:c.902G>A, NM_022124.4:c.902G>A, NM_022124.5:c.902G>A, NM_052836.2:c.902G>A, NM_052836.3:c.902G>AVOUS07/08/2016
12CDH23Ex11NM_022124.5:c.996G>Ap.Thr332= | p.T332=NM_001171930.1:c.996G>A, NM_001171931.1:c.996G>A, NM_001171932.1:c.996G>A, NM_022124.4:c.996G>A, NM_022124.5:c.996G>A, NM_052836.2:c.996G>A, NM_052836.3:c.996G>AVOUS08/24/2017
13CDH23Ex11NM_022124.5:c.1038G>Ap.Pro346= | p.P346=NM_001171930.1:c.1038G>A, NM_001171931.1:c.1038G>A, NM_001171932.1:c.1038G>A, NM_022124.4:c.1038G>A, NM_022124.5:c.1038G>A, NM_052836.2:c.1038G>A, NM_052836.3:c.1038G>ABenign11/07/2014 
14CDH23Ex11NM_022124.5:c.1078C>Tp.Leu360= | p.L360=NM_001171930.1:c.1078C>T, NM_001171931.1:c.1078C>T, NM_001171932.1:c.1078C>T, NM_022124.4:c.1078C>T, NM_022124.5:c.1078C>T, NM_052836.2:c.1078C>T, NM_052836.3:c.1078C>TBenign02/04/2016 
15CDH23Ex11NM_022124.5:c.1096G>Ap.Ala366Thr | p.A366TNM_001171930.1:c.1096G>A, NM_001171931.1:c.1096G>A, NM_001171932.1:c.1096G>A, NM_022124.4:c.1096G>A, NM_022124.5:c.1096G>A, NM_052836.2:c.1096G>A, NM_052836.3:c.1096G>ABenign01/13/2015 
16CDH23Ex13NM_022124.5:c.1185C>Tp.Ser395= | p.S395=NM_001171930.1:c.1185C>T, NM_001171931.1:c.1185C>T, NM_022124.4:c.1185C>T, NM_022124.5:c.1185C>T, NM_052836.2:c.1185C>T, NM_052836.3:c.1185C>TVOUS11/11/2016
17CDH23Ex14NM_022124.5:c.1301A>Gp.Asn434Ser | p.N434SNM_001171930.1:c.1301A>G, NM_001171931.1:c.1301A>G, NM_022124.4:c.1301A>G, NM_022124.5:c.1301A>G, NM_052836.2:c.1301A>G, NM_052836.3:c.1301A>GVOUS02/01/2018
18CDH23Ex14NM_022124.5:c.1307G>Ap.Ser436Asn | p.S436NNM_001171930.1:c.1307G>A, NM_001171931.1:c.1307G>A, NM_022124.4:c.1307G>A, NM_022124.5:c.1307G>A, NM_052836.2:c.1307G>A, NM_052836.3:c.1307G>ALikely benign03/25/2016 
19CDH23Ex14NM_022124.5:c.1423G>Ap.Val475Met | p.V475MNM_001171930.1:c.1423G>A, NM_001171931.1:c.1423G>A, NM_022124.4:c.1423G>A, NM_022124.5:c.1423G>A, NM_052836.2:c.1423G>A, NM_052836.3:c.1423G>ABenign03/05/2015 
20CDH23Ex14NM_022124.5:c.1446C>Ap.Val482= | p.V482=NM_001171930.1:c.1446C>A, NM_001171931.1:c.1446C>A, NM_022124.4:c.1446C>A, NM_022124.5:c.1446C>A, NM_052836.2:c.1446C>A, NM_052836.3:c.1446C>AVOUS11/11/2016
21CDH23Ex15NM_022124.5:c.1450-4G>ANM_001171930.1:c.1450-4G>A, NM_001171931.1:c.1450-4G>A, NM_022124.4:c.1450-4G>A, NM_022124.5:c.1450-4G>AVOUS04/08/2016
22CDH23Ex15NM_022124.5:c.1504G>Ap.Asp502Asn | p.D502NNM_001171930.1:c.1504G>A, NM_001171931.1:c.1504G>A, NM_022124.4:c.1504G>A, NM_022124.5:c.1504G>AVOUS06/09/2017
23CDH23Ex15NM_022124.5:c.1514+6A>GNM_001171930.1:c.1514+6A>G, NM_001171931.1:c.1514+6A>G, NM_022124.4:c.1514+6A>G, NM_022124.5:c.1514+6A>GVOUS01/19/2017
24CDH23Ex16NM_022124.5:c.1583G>Ap.Arg528His | p.R528HNM_001171930.1:c.1583G>A, NM_001171931.1:c.1583G>A, NM_022124.4:c.1583G>A, NM_022124.5:c.1583G>AVOUS01/12/2018
25CDH23Ex16NM_022124.5:c.1595C>Tp.Thr532Met | p.T532MNM_001171930.1:c.1595C>T, NM_001171931.1:c.1595C>T, NM_022124.4:c.1595C>T, NM_022124.5:c.1595C>TVOUS11/07/2014
26CDH23Ex16NM_022124.5:c.1608G>Ap.Arg536= | p.R536=NM_001171930.1:c.1608G>A, NM_001171931.1:c.1608G>A, NM_022124.4:c.1608G>A, NM_022124.5:c.1608G>AVOUS01/20/2017
27CDH23Ex16NM_022124.5:c.1719C>Tp.Asn573= | p.N573=NM_001171930.1:c.1719C>T, NM_001171931.1:c.1719C>T, NM_022124.4:c.1719C>T, NM_022124.5:c.1719C>TVOUS01/22/2016
28CDH23Ex16NM_022124.5:c.1752+6G>ANM_001171930.1:c.1752+6G>A, NM_001171931.1:c.1752+6G>A, NM_022124.4:c.1752+6G>A, NM_022124.5:c.1752+6G>AVOUS11/28/2017
29CDH23Ex17NM_022124.5:c.1803C>Gp.Val601= | p.V601=NM_001171930.1:c.1803C>G, NM_001171931.1:c.1803C>G, NM_022124.4:c.1803C>G, NM_022124.5:c.1803C>GVOUS02/11/2015
30CDH23Ex17NM_022124.5:c.1814C>Tp.Ala605Val | p.A605VNM_001171930.1:c.1814C>T, NM_001171931.1:c.1814C>T, NM_022124.4:c.1814C>T, NM_022124.5:c.1814C>TLikely benign07/27/2017 
31CDH23Ex18NM_022124.5:c.1919C>Tp.Thr640Met | p.T640MNM_001171930.1:c.1919C>T, NM_001171931.1:c.1919C>T, NM_022124.4:c.1919C>T, NM_022124.5:c.1919C>TVOUS01/24/2017
32CDH23Ex18NM_022124.5:c.1963G>Ap.Val655Ile | p.V655INM_001171930.1:c.1963G>A, NM_001171931.1:c.1963G>A, NM_022124.4:c.1963G>A, NM_022124.5:c.1963G>AVOUS04/03/2018
33CDH23Ex18NM_022124.5:c.1981G>Ap.Val661Met | p.V661MNM_001171930.1:c.1981G>A, NM_001171931.1:c.1981G>A, NM_022124.4:c.1981G>A, NM_022124.5:c.1981G>AVOUS01/15/2019
34CDH23Ex21NM_022124.5:c.2239C>Tp.Arg747Cys | p.R747CNM_001171930.1:c.2239C>T, NM_001171931.1:c.2239C>T, NM_022124.4:c.2239C>T, NM_022124.5:c.2239C>TVOUS03/14/2019
35CDH23Ex21NM_022124.5:c.2263C>Tp.His755Tyr | p.H755YNM_001171930.1:c.2263C>T, NM_001171931.1:c.2263C>T, NM_022124.4:c.2263C>T, NM_022124.5:c.2263C>TLikely benign08/30/2016 
36CDH23Ex22NM_022124.5:c.2341G>Ap.Ala781Thr | p.A781TNM_001171930.1:c.2341G>A, NM_001171931.1:c.2341G>A, NM_022124.4:c.2341G>A, NM_022124.5:c.2341G>AVOUS04/03/2019
37CDH23Ex22NM_022124.5:c.2394C>Tp.Thr798= | p.T798=NM_001171930.1:c.2394C>T, NM_001171931.1:c.2394C>T, NM_022124.4:c.2394C>T, NM_022124.5:c.2394C>TVOUS08/16/2013
38CDH23Ex23NM_022124.5:c.2424G>Ap.Gly808= | p.G808=NM_001171930.1:c.2424G>A, NM_001171931.1:c.2424G>A, NM_022124.4:c.2424G>A, NM_022124.5:c.2424G>ABenign10/08/2013 
39CDH23Ex23NM_022124.5:c.2431G>Ap.Gly811Ser | p.G811SNM_001171930.1:c.2431G>A, NM_001171931.1:c.2431G>A, NM_022124.4:c.2431G>A, NM_022124.5:c.2431G>AVOUS02/02/2017
40CDH23Ex23NM_022124.5:c.2494A>Cp.Lys832Gln | p.K832QNM_001171930.1:c.2494A>C, NM_001171931.1:c.2494A>C, NM_022124.4:c.2494A>C, NM_022124.5:c.2494A>CVOUS11/07/2014
41CDH23Ex23NM_022124.5:c.2532C>Tp.Asn844= | p.N844=NM_001171930.1:c.2532C>T, NM_001171931.1:c.2532C>T, NM_022124.4:c.2532C>T, NM_022124.5:c.2532C>TVOUS02/17/2015
42CDH23Ex23NM_022124.5:c.2572G>Ap.Val858Ile | p.V858INM_001171930.1:c.2572G>A, NM_001171931.1:c.2572G>A, NM_022124.4:c.2572G>A, NM_022124.5:c.2572G>ALikely benign07/26/2016 
43CDH23Ex24NM_022124.5:c.2714C>Tp.Ala905Val | p.A905VNM_001171930.1:c.2714C>T, NM_001171931.1:c.2714C>T, NM_022124.4:c.2714C>T, NM_022124.5:c.2714C>TVOUS01/20/2017
44CDH23Ex25NM_022124.5:c.2830A>Gp.Ser944Gly | p.S944GNM_001171930.1:c.2830A>G, NM_001171931.1:c.2830A>G, NM_022124.4:c.2830A>G, NM_022124.5:c.2830A>GVOUS01/29/2015
45CDH23Ex25NM_022124.5:c.2890C>Tp.Arg964Trp | p.R964WNM_001171930.1:c.2890C>T, NM_001171931.1:c.2890C>T, NM_022124.4:c.2890C>T, NM_022124.5:c.2890C>TVOUS03/02/2016
46CDH23Ex25NM_022124.5:c.2891G>Cp.Arg964Pro | p.R964PNM_001171930.1:c.2891G>C, NM_001171931.1:c.2891G>C, NM_022124.4:c.2891G>C, NM_022124.5:c.2891G>CVOUS11/25/2015
47CDH23Ex25NM_022124.5:c.2891G>Ap.Arg964Gln | p.R964QNM_001171930.1:c.2891G>A, NM_001171931.1:c.2891G>A, NM_022124.4:c.2891G>A, NM_022124.5:c.2891G>AVOUS07/19/2016
48CDH23Ex25NM_022124.5:c.2940G>Ap.Thr980= | p.T980=NM_001171930.1:c.2940G>A, NM_001171931.1:c.2940G>A, NM_022124.4:c.2940G>A, NM_022124.5:c.2940G>AVOUS04/27/2014
49CDH23Ex26NM_022124.5:c.2970C>Tp.Asp990= | p.D990=NM_001164375.2:c.*9023G>A, NM_001168390.1:c.*9023G>A, NM_001171930.1:c.2970C>T, NM_001171931.1:c.2970C>T, NM_022124.4:c.2970C>T, NM_022124.5:c.2970C>T, XM_001715769.2:c.*9023G>ALikely benign11/21/2014 
50CDH23Ex26NM_022124.5:c.2990C>Tp.Pro997Leu | p.P997LNM_001164375.2:c.*9003G>A, NM_001168390.1:c.*9003G>A, NM_001171930.1:c.2990C>T, NM_001171931.1:c.2990C>T, NM_022124.4:c.2990C>T, NM_022124.5:c.2990C>T, XM_001715769.2:c.*9003G>AVOUS03/16/2016
51CDH23Ex26NM_022124.5:c.3009T>Cp.Ser1003= | p.S1003=NM_001164375.2:c.*8984A>G, NM_001168390.1:c.*8984A>G, NM_001171930.1:c.3009T>C, NM_001171931.1:c.3009T>C, NM_022124.4:c.3009T>C, NM_022124.5:c.3009T>C, XM_001715769.2:c.*8984A>GBenign05/07/2014 
52CDH23Ex26NM_022124.5:c.3010G>Ap.Val1004Met | p.V1004MNM_001164375.2:c.*8983C>T, NM_001168390.1:c.*8983C>T, NM_001171930.1:c.3010G>A, NM_001171931.1:c.3010G>A, NM_022124.4:c.3010G>A, NM_022124.5:c.3010G>A, XM_001715769.2:c.*8983C>TLikely benign04/04/2018 
53CDH23Ex26NM_022124.5:c.3016G>Ap.Glu1006Lys | p.E1006KNM_001164375.2:c.*8977C>T, NM_001168390.1:c.*8977C>T, NM_001171930.1:c.3016G>A, NM_001171931.1:c.3016G>A, NM_022124.4:c.3016G>A, NM_022124.5:c.3016G>A, XM_001715769.2:c.*8977C>TPathogenic01/03/2019 
54CDH23Ex26NM_022124.5:c.3022G>Ap.Val1008Met | p.V1008MVOUS02/18/2014
55CDH23Ex26NM_022124.5:c.3074G>Ap.Gly1025Asp | p.G1025DNM_001164375.2:c.*8919C>T, NM_001168390.1:c.*8919C>T, NM_001171930.1:c.3074G>A, NM_001171931.1:c.3074G>A, NM_022124.4:c.3074G>A, NM_022124.5:c.3074G>A, XM_001715769.2:c.*8919C>TBenign04/21/2015 
56CDH23Ex27NM_022124.5:c.3172C>Gp.Leu1058Val | p.L1058VNM_001164375.2:c.*6773G>C, NM_001168390.1:c.*6773G>C, NM_001171930.1:c.3172C>G, NM_001171931.1:c.*2034C>G, NM_022124.4:c.3172C>G, NM_022124.5:c.3172C>G, XM_001715769.2:c.*6773G>CVOUS10/01/2014
57CDH23Ex27NM_022124.5:c.3178C>Tp.Arg1060Trp | p.R1060WNM_001164375.2:c.*6767G>A, NM_001168390.1:c.*6767G>A, NM_001171930.1:c.3178C>T, NM_001171931.1:c.*2040C>T, NM_022124.4:c.3178C>T, NM_022124.5:c.3178C>T, XM_001715769.2:c.*6767G>AVOUS05/09/2019
58CDH23Ex28NM_022124.5:c.3221-2A>GNM_001164375.2:c.*3273T>C, NM_001168390.1:c.*3273T>C, NM_001171930.1:c.3221-2A>G, NM_022124.4:c.3221-2A>G, NM_022124.5:c.3221-2A>G, XM_001715769.2:c.*3273T>CPathogenic02/01/2018 
59CDH23Ex28NM_022124.5:c.3293A>Gp.Asn1098Ser | p.N1098SNM_001164375.2:c.*3199T>C, NM_001168390.1:c.*3199T>C, NM_001171930.1:c.3293A>G, NM_022124.4:c.3293A>G, NM_022124.5:c.3293A>G, XM_001715769.2:c.*3199T>CVOUS06/24/2019
60CDH23Ex28NM_022124.5:c.3301A>Gp.Ile1101Val | p.I1101VNM_001164375.2:c.*3191T>C, NM_001168390.1:c.*3191T>C, NM_001171930.1:c.3301A>G, NM_022124.4:c.3301A>G, NM_022124.5:c.3301A>G, XM_001715769.2:c.*3191T>CVOUS04/28/2014
61CDH23Ex28NM_022124.5:c.3361A>Tp.Ile1121Phe | p.I1121FNM_001164375.2:c.*3131T>A, NM_001168390.1:c.*3131T>A, NM_001171930.1:c.3361A>T, NM_022124.4:c.3361A>T, NM_022124.5:c.3361A>T, XM_001715769.2:c.*3131T>AVOUS02/21/2017
62CDH23Ex30NM_022124.5:c.3431-6A>TNM_001168390.1:c.-5-9024T>A, NM_001171930.1:c.3431-6A>T, NM_022124.4:c.3431-6A>T, NM_022124.5:c.3431-6A>TVOUS01/19/2017
63CDH23Ex30NM_022124.5:c.3477G>Cp.Leu1159= | p.L1159=NM_001168390.1:c.-5-9076C>G, NM_001171930.1:c.3477G>C, NM_022124.4:c.3477G>C, NM_022124.5:c.3477G>CVOUS07/10/2018
64CDH23Ex30NM_022124.5:c.3486G>Cp.Gly1162= | p.G1162=NM_001168390.1:c.-5-9085C>G, NM_001171930.1:c.3486G>C, NM_022124.4:c.3486G>C, NM_022124.5:c.3486G>CVOUS03/21/2016
65CDH23Ex30NM_022124.5:c.3562delAp.Met1188Cysfs*7 | p.M1188CfsX7NM_001168390.1:c.-5-9161delT, NM_001171930.1:c.3562delA, NM_022124.4:c.3562delA, NM_022124.5:c.3562delAPathogenic01/04/2019 
66CDH23Ex31NM_022124.5:c.3625A>Gp.Thr1209Ala | p.T1209ANM_001168390.1:c.-6+7214T>C, NM_001171930.1:c.3625A>G, NM_022124.4:c.3625A>G, NM_022124.5:c.3625A>GBenign07/10/2015 
67CDH23Ex31NM_022124.5:c.3684C>Gp.Val1228= | p.V1228=NM_001168390.1:c.-6+7155G>C, NM_001171930.1:c.3684C>G, NM_022124.4:c.3684C>G, NM_022124.5:c.3684C>GVOUS02/15/2017
68CDH23Ex32NM_022124.5:c.3784A>Cp.Thr1262Pro | p.T1262PNM_001168390.1:c.-6+5673T>G, NM_001171930.1:c.3784A>C, NM_022124.4:c.3784A>C, NM_022124.5:c.3784A>CVOUS09/09/2016
69CDH23Ex32NM_022124.5:c.3801C>Tp.Thr1267= | p.T1267=NM_001168390.1:c.-6+5656G>A, NM_001171930.1:c.3801C>T, NM_022124.4:c.3801C>T, NM_022124.5:c.3801C>TVOUS12/28/2020
70CDH23Ex32NM_022124.5:c.3802G>Ap.Val1268Met | p.V1268MNM_001168390.1:c.-6+5655C>T, NM_001171930.1:c.3802G>A, NM_022124.4:c.3802G>A, NM_022124.5:c.3802G>AVOUS01/30/2015
71CDH23Ex32NM_022124.5:c.3839T>Ap.Met1280Lys | p.M1280KNM_001168390.1:c.-6+5618A>T, NM_001171930.1:c.3839T>A, NM_022124.4:c.3839T>A, NM_022124.5:c.3839T>AVOUS02/06/2017
72CDH23Ex32NM_022124.5:c.3845A>Gp.Asn1282Ser | p.N1282SNM_001168390.1:c.-6+5612T>C, NM_001171930.1:c.3845A>G, NM_022124.4:c.3845A>G, NM_022124.5:c.3845A>GLikely benign10/20/2015 
73CDH23Ex32NM_022124.5:c.3852G>Ap.Ser1284= | p.S1284=NM_001168390.1:c.-6+5605C>T, NM_001171930.1:c.3852G>A, NM_022124.4:c.3852G>A, NM_022124.5:c.3852G>AVOUS11/11/2015
74CDH23Ex32NM_022124.5:c.3916G>Cp.Glu1306Gln | p.E1306QNM_001168390.1:c.-6+5541C>G, NM_001171930.1:c.3916G>C, NM_022124.4:c.3916G>C, NM_022124.5:c.3916G>CVOUS01/15/2018
75CDH23Ex32NM_022124.5:c.3924C>Tp.Asp1308= | p.D1308=NM_001168390.1:c.-6+5533G>A, NM_001171930.1:c.3924C>T, NM_022124.4:c.3924C>T, NM_022124.5:c.3924C>TVOUS10/04/2016
76CDH23Ex32NM_022124.5:c.3927G>Ap.Glu1309= | p.E1309=NM_001168390.1:c.-6+5530C>T, NM_001171930.1:c.3927G>A, NM_022124.4:c.3927G>A, NM_022124.5:c.3927G>AVOUS04/04/2018
77CDH23Ex32NM_022124.5:c.3986G>Ap.Gly1329Asp | p.G1329DNM_001168390.1:c.-6+5471C>T, NM_001171930.1:c.3986G>A, NM_022124.4:c.3986G>A, NM_022124.5:c.3986G>AVOUS11/10/2016
78CDH23Ex32NM_022124.5:c.3999G>Ap.Val1333= | p.V1333=NM_001168390.1:c.-6+5458C>T, NM_001171930.1:c.3999G>A, NM_022124.4:c.3999G>A, NM_022124.5:c.3999G>ALikely benign11/01/2016 
79CDH23Ex32NM_022124.5:c.4045C>Tp.Arg1349Cys | p.R1349CNM_001168390.1:c.-6+5412G>A, NM_001171930.1:c.4045C>T, NM_022124.4:c.4045C>T, NM_022124.5:c.4045C>TBenign09/22/2015 
80CDH23Ex32NM_022124.5:c.4051A>Gp.Asn1351Asp | p.N1351DNM_001168390.1:c.-6+5406T>C, NM_001171930.1:c.4051A>G, NM_022124.4:c.4051A>G, NM_022124.5:c.4051A>GBenign09/20/2013 
81CDH23Ex34NM_022124.5:c.4209+1G>TNM_001168390.1:c.-6+3069C>A, NM_001171930.1:c.*2242G>T, NM_022124.4:c.4209+1G>T, NM_022124.5:c.4209+1G>TPathogenic12/27/2013 
82CDH23Ex35NM_022124.5:c.4274C>Tp.Ala1425Val | p.A1425VNM_001168390.1:c.-840G>A, NM_022124.4:c.4274C>T, NM_022124.5:c.4274C>TVOUS04/02/2019
83CDH23Ex35NM_022124.5:c.4299T>Ap.Pro1433= | p.P1433=NM_001168390.1:c.-865A>T, NM_022124.4:c.4299T>A, NM_022124.5:c.4299T>ABenign10/08/2013 
84CDH23Ex35NM_022124.5:c.4341T>Cp.Asp1447= | p.D1447=NM_001168390.1:c.-907A>G, NM_022124.4:c.4341T>C, NM_022124.5:c.4341T>CBenign10/08/2013 
85CDH23Ex36NM_022124.5:c.4488+7C>TNM_001168390.1:c.-2057G>A, NM_022124.4:c.4488+7C>T, NM_022124.5:c.4488+7C>TVOUS03/27/2018
86CDH23Ex38NM_022124.5:c.4620C>Tp.Asn1540= | p.N1540=NM_001168390.1:c.-3974G>A, NM_022124.4:c.4620C>T, NM_022124.5:c.4620C>TVOUS08/28/2014
87CDH23Ex38NM_022124.5:c.4704C>Tp.Thr1568= | p.T1568=NM_001168390.1:c.-4058G>A, NM_022124.4:c.4704C>T, NM_022124.5:c.4704C>TVOUS04/08/2016
88CDH23Ex38NM_022124.5:c.4782C>Tp.Arg1594= | p.R1594=NM_001168390.1:c.-4136G>A, NM_022124.4:c.4782C>T, NM_022124.5:c.4782C>TVOUS05/17/2016
89CDH23Ex38NM_022124.5:c.4842G>Cp.Leu1614= | p.L1614=NM_001168390.1:c.-4196C>G, NM_022124.4:c.4842G>C, NM_022124.5:c.4842G>CBenign05/01/2017 
90CDH23Ex39NM_022124.5:c.4858G>Ap.Val1620Met | p.V1620MNM_022124.4:c.4858G>A, NM_022124.5:c.4858G>A, NM_022153.1:c.-4253C>TBenign11/20/2013 
91CDH23Ex39NM_022124.5:c.5050C>Tp.Arg1684Cys | p.R1684CNM_022124.4:c.5050C>T, NM_022124.5:c.5050C>T, NM_022153.1:c.-4445G>AVOUS10/26/2016
92CDH23Ex40NM_022124.5:c.5100C>Tp.Tyr1700= | p.Y1700=NM_022124.4:c.5100C>T, NM_022124.5:c.5100C>T, NM_022153.1:c.-4782G>ABenign07/08/2014 
93CDH23Ex40NM_022124.5:c.5130C>Ap.Ile1710= | p.I1710=NM_022124.4:c.5130C>A, NM_022124.5:c.5130C>A, NM_022153.1:c.-4812G>TVOUS02/21/2017
94CDH23Ex40NM_022124.5:c.5131G>Ap.Val1711Ile | p.V1711INM_022124.4:c.5131G>A, NM_022124.5:c.5131G>A, NM_022153.1:c.-4813C>TVOUS02/19/2019
95CDH23Ex40NM_022124.5:c.5146C>Ap.Gln1716Lys | p.Q1716KNM_022124.4:c.5146C>A, NM_022124.5:c.5146C>A, NM_022153.1:c.-4828G>TVOUS09/18/2017
96CDH23Ex41NM_022124.5:c.5228C>Ap.Thr1743Asn | p.T1743NNM_022124.4:c.5228C>A, NM_022124.5:c.5228C>AVOUS01/20/2017
97CDH23Ex41NM_022124.5:c.5312G>Ap.Arg1771Gln | p.R1771QNM_022124.4:c.5312G>A, NM_022124.5:c.5312G>ALikely benign08/17/2017 
98CDH23Ex42NM_022124.5:c.5418C>Gp.Asp1806Glu | p.D1806ENM_022124.4:c.5418C>G, NM_022124.5:c.5418C>GBenign05/20/2015 
99CDH23Ex42NM_022124.5:c.5470C>Tp.Arg1824Cys | p.R1824CNM_022124.4:c.5470C>T, NM_022124.5:c.5470C>TVOUS05/20/2016
100CDH23Ex42NM_022124.5:c.5471G>Ap.Arg1824His | p.R1824HNM_022124.4:c.5471G>A, NM_022124.5:c.5471G>AVOUS08/20/2014
101CDH23Ex43NM_022124.5:c.5505G>Ap.Met1835Ile | p.M1835INM_022124.4:c.5505G>A, NM_022124.5:c.5505G>AVOUS11/08/2017
102CDH23Ex43NM_022124.5:c.5518C>Tp.Arg1840Trp | p.R1840WNM_022124.4:c.5518C>T, NM_022124.5:c.5518C>TVOUS01/20/2017
103CDH23Ex43NM_022124.5:c.5541C>Tp.Asn1847= | p.N1847=NM_022124.4:c.5541C>T, NM_022124.5:c.5541C>TBenign11/17/2014 
104CDH23Ex43NM_022124.5:c.5544C>Tp.Asp1848= | p.D1848=NM_022124.4:c.5544C>T, NM_022124.5:c.5544C>TLikely benign04/30/2015 
105CDH23Ex43NM_022124.5:c.5647A>Cp.Asn1883His | p.N1883HNM_022124.4:c.5647A>C, NM_022124.5:c.5647A>CVOUS09/14/2015
106CDH23Ex43NM_022124.5:c.5667C>Tp.Asn1889= | p.N1889=NM_022124.4:c.5667C>T, NM_022124.5:c.5667C>TVOUS04/15/2016
107CDH23Ex44NM_022124.5:c.5722G>Ap.Val1908Ile | p.V1908INM_022124.4:c.5722G>A, NM_022124.5:c.5722G>AVOUS07/11/2014
108CDH23Ex44NM_022124.5:c.5753G>Ap.Arg1918Gln | p.R1918QNM_022124.4:c.5753G>A, NM_022124.5:c.5753G>ABenign12/08/2014 
109CDH23Ex44NM_022124.5:c.5788G>Tp.Asp1930Tyr | p.D1930YNM_022124.4:c.5788G>T, NM_022124.5:c.5788G>TVOUS07/10/2015
110CDH23Ex45NM_022124.5:c.5871C>Gp.Pro1957= | p.P1957=NM_022124.4:c.5871C>G, NM_022124.5:c.5871C>GLikely benign01/22/2016 
111CDH23Ex46NM_022124.5:c.5971G>Cp.Asp1991His | p.D1991HNM_022124.4:c.5971G>C, NM_022124.5:c.5971G>CVOUS07/10/2015
112CDH23Ex46NM_022124.5:c.5996C>Gp.Thr1999Ser | p.T1999SNM_022124.4:c.5996C>G, NM_022124.5:c.5996C>GBenign10/28/2013 
113CDH23Ex47NM_022124.5:c.6050-10C>TNM_001171933.1:c.-4966C>T, NM_001171934.1:c.-4966C>T, NM_022124.4:c.6050-10C>T, NM_022124.5:c.6050-10C>TVOUS06/30/2017
114CDH23Ex47NM_022124.5:c.6050-9G>ANM_001171933.1:c.-4965G>A, NM_001171934.1:c.-4965G>A, NM_022124.4:c.6050-9G>A, NM_022124.5:c.6050-9G>APathogenic03/04/2019 
115CDH23Ex47NM_022124.5:c.6098C>Tp.Ser2033Leu | p.S2033LNM_001171933.1:c.-4908C>T, NM_001171934.1:c.-4908C>T, NM_022124.4:c.6098C>T, NM_022124.5:c.6098C>TVOUS07/23/2015
116CDH23Ex47NM_022124.5:c.6108C>Tp.Ile2036= | p.I2036=NM_001171933.1:c.-4898C>T, NM_001171934.1:c.-4898C>T, NM_022124.4:c.6108C>T, NM_022124.5:c.6108C>TVOUS08/25/2016
117CDH23Ex47NM_022124.5:c.6130G>Ap.Glu2044Lys | p.E2044KNM_001171933.1:c.-4876G>A, NM_001171934.1:c.-4876G>A, NM_022124.4:c.6130G>A, NM_022124.5:c.6130G>ABenign01/30/2014 
118CDH23Ex47NM_022124.5:c.6169A>Gp.Ile2057Val | p.I2057VNM_001171933.1:c.-4837A>G, NM_001171934.1:c.-4837A>G, NM_022124.4:c.6169A>G, NM_022124.5:c.6169A>GVOUS01/30/2014
119CDH23Ex47NM_022124.5:c.6197G>Ap.Arg2066Gln | p.R2066QNM_001171933.1:c.-4809G>A, NM_001171934.1:c.-4809G>A, NM_022124.4:c.6197G>A, NM_022124.5:c.6197G>ABenign03/16/2015 
120CDH23Ex47NM_022124.5:c.6250C>Tp.Pro2084Ser | p.P2084SNM_001171933.1:c.-4756C>T, NM_001171934.1:c.-4756C>T, NM_022124.4:c.6250C>T, NM_022124.5:c.6250C>TVOUS08/17/2017
121CDH23Ex48NM_022124.5:c.6329C>Tp.Ala2110Val | p.A2110VNM_001171933.1:c.-2831C>T, NM_001171934.1:c.-2831C>T, NM_022124.4:c.6329C>T, NM_022124.5:c.6329C>TLikely benign01/22/2016 
122CDH23Ex48NM_022124.5:c.6426A>Gp.Leu2142= | p.L2142=NM_001171933.1:c.-2734A>G, NM_001171934.1:c.-2734A>G, NM_022124.4:c.6426A>G, NM_022124.5:c.6426A>GVOUS01/24/2014
123CDH23Ex48NM_022124.5:c.6429G>Ap.Thr2143= | p.T2143=NM_001171933.1:c.-2731G>A, NM_001171934.1:c.-2731G>A, NM_022124.4:c.6429G>A, NM_022124.5:c.6429G>AVOUS11/30/2017
124CDH23Ex48NM_022124.5:c.6440C>Ap.Thr2147Asn | p.T2147NNM_001171933.1:c.-2720C>A, NM_001171934.1:c.-2720C>A, NM_022124.4:c.6440C>A, NM_022124.5:c.6440C>AVOUS02/01/2016
125CDH23Ex48NM_022124.5:c.6446G>Ap.Arg2149Gln | p.R2149QNM_001171933.1:c.-2714G>A, NM_001171934.1:c.-2714G>A, NM_022124.4:c.6446G>A, NM_022124.5:c.6446G>AVOUS05/29/2018
126CDH23Ex48NM_022124.5:c.6489G>Cp.Leu2163= | p.L2163=NM_001171933.1:c.-2671G>C, NM_001171934.1:c.-2671G>C, NM_022124.4:c.6489G>C, NM_022124.5:c.6489G>CVOUS08/28/2014
127CDH23Ex48NM_022124.5:c.6530C>Tp.Pro2177Leu | p.P2177LNM_001171933.1:c.-2630C>T, NM_001171934.1:c.-2630C>T, NM_022124.4:c.6530C>T, NM_022124.5:c.6530C>TVOUS10/12/2016
128CDH23Ex48NM_022124.5:c.6547G>Ap.Val2183Met | p.V2183MNM_001171933.1:c.-2613G>A, NM_001171934.1:c.-2613G>A, NM_022124.4:c.6547G>A, NM_022124.5:c.6547G>AVOUS10/12/2016
129CDH23Ex48NM_022124.5:c.6596T>Ap.Ile2199Asn | p.I2199NNM_001171933.1:c.-2564T>A, NM_001171934.1:c.-2564T>A, NM_022124.4:c.6596T>A, NM_022124.5:c.6596T>ABenign09/03/2014 
130CDH23Ex48NM_022124.5:c.6648C>Tp.Ala2216= | p.A2216=NM_001171933.1:c.-2512C>T, NM_001171934.1:c.-2512C>T, NM_022124.4:c.6648C>T, NM_022124.5:c.6648C>TVOUS08/03/2018
131CDH23Ex48NM_022124.5:c.6705C>Tp.Ile2235= | p.I2235=NM_001171933.1:c.-2455C>T, NM_001171934.1:c.-2455C>T, NM_022124.4:c.6705C>T, NM_022124.5:c.6705C>TBenign01/26/2017 
132CDH23Ex49NM_022124.5:c.6713-8G>ANM_001171933.1:c.-8-8G>A, NM_001171934.1:c.-8-8G>A, NM_022124.4:c.6713-8G>A, NM_022124.5:c.6713-8G>ABenign04/07/2016 
133CDH23Ex50NM_022124.5:c.6847G>Ap.Val2283Ile | p.V2283INM_001171933.1:c.127G>A, NM_001171934.1:c.127G>A, NM_022124.4:c.6847G>A, NM_022124.5:c.6847G>ABenign07/01/2015 
134CDH23Ex50NM_022124.5:c.6852G>Cp.Leu2284= | p.L2284=NM_001171933.1:c.132G>C, NM_001171934.1:c.132G>C, NM_022124.4:c.6852G>C, NM_022124.5:c.6852G>CBenign01/27/2016 
135CDH23Ex50NM_022124.5:c.6918G>Ap.Leu2306= | p.L2306=NM_001171933.1:c.198G>A, NM_001171934.1:c.198G>A, NM_022124.4:c.6918G>A, NM_022124.5:c.6918G>ABenign11/25/2015 
136CDH23Ex50NM_022124.5:c.7049C>Tp.Ser2350Leu | p.S2350LNM_001171933.1:c.329C>T, NM_001171934.1:c.329C>T, NM_022124.4:c.7049C>T, NM_022124.5:c.7049C>TVOUS02/06/2018
137CDH23Ex51NM_022124.5:c.7055-16A>GNM_001171933.1:c.335-16A>G, NM_001171934.1:c.335-16A>G, NM_022124.4:c.7055-16A>G, NM_022124.5:c.7055-16A>GBenign02/27/2017 
138CDH23Ex51NM_022124.5:c.7073G>Ap.Arg2358Gln | p.R2358QNM_001171933.1:c.353G>A, NM_001171934.1:c.353G>A, NM_022124.4:c.7073G>A, NM_022124.5:c.7073G>ABenign02/27/2017 
139CDH23Ex51NM_022124.5:c.7077A>Cp.Thr2359= | p.T2359=NM_001171933.1:c.357A>C, NM_001171934.1:c.357A>C, NM_022124.4:c.7077A>C, NM_022124.5:c.7077A>CVOUS01/21/2015
140CDH23Ex51NM_022124.5:c.7139C>Tp.Pro2380Leu | p.P2380LNM_001171933.1:c.419C>T, NM_001171934.1:c.419C>T, NM_022124.4:c.7139C>T, NM_022124.5:c.7139C>TBenign02/27/2017 
141CDH23Ex51NM_022124.5:c.7145G>Ap.Arg2382Gln | p.R2382QNM_001171933.1:c.425G>A, NM_001171934.1:c.425G>A, NM_022124.4:c.7145G>A, NM_022124.5:c.7145G>AVOUS02/07/2019
142CDH23Ex51NM_022124.5:c.7180G>Cp.Asp2394His | p.D2394HNM_001171933.1:c.460G>C, NM_001171934.1:c.460G>C, NM_022124.4:c.7180G>C, NM_022124.5:c.7180G>CVOUS02/07/2019
143CDH23Ex52NM_022124.5:c.7362G>Ap.Thr2454= | p.T2454=NM_001171933.1:c.642G>A, NM_001171934.1:c.642G>A, NM_022124.4:c.7362G>A, NM_022124.5:c.7362G>ALikely pathogenic02/08/2018 
144CDH23Ex53NM_022124.5:c.7468G>Ap.Glu2490Lys | p.E2490KNM_001171933.1:c.748G>A, NM_001171934.1:c.748G>A, NM_022124.4:c.7468G>A, NM_022124.5:c.7468G>AVOUS04/12/2016
145CDH23Ex54NM_022124.5:c.7483-10A>GNM_001171933.1:c.763-10A>G, NM_001171934.1:c.763-10A>G, NM_022124.4:c.7483-10A>G, NM_022124.5:c.7483-10A>GVOUS02/11/2019
146CDH23Ex55NM_022124.5:c.7685C>Tp.Ser2562Leu | p.S2562LNM_001171933.1:c.965C>T, NM_001171934.1:c.965C>T, NM_022124.4:c.7685C>T, NM_022124.5:c.7685C>TVOUS12/06/2016
147CDH23Ex55NM_022124.5:c.7823G>Ap.Arg2608His | p.R2608HNM_001171933.1:c.1103G>A, NM_001171934.1:c.1103G>A, NM_022124.4:c.7823G>A, NM_022124.5:c.7823G>AVOUS05/10/2016
148CDH23Ex56NM_022124.5:c.8022G>Ap.Gln2674= | p.Q2674=NM_001171933.1:c.1302G>A, NM_001171934.1:c.1302G>A, NM_022124.4:c.8022G>A, NM_022124.5:c.8022G>ALikely benign10/20/2015 
149CDH23Ex57NM_022124.5:c.8065-8G>ANM_001171933.1:c.1345-8G>A, NM_001171934.1:c.1345-8G>A, NM_022124.4:c.8065-8G>A, NM_022124.5:c.8065-8G>AVOUS09/12/2016
150CDH23Ex57NM_022124.5:c.8120_8121delCGinsTTNM_001171933.1:c.1400_1401delinsTT, NM_001171934.1:c.1400_1401delinsTT, NM_022124.4:c.8120_8121delinsTT, NM_022124.5:c.8120_8121delinsTTBenign11/04/2016 
151CDH23Ex57NM_022124.5:c.8167G>Cp.Val2723Leu | p.V2723LNM_001171933.1:c.1447G>C, NM_001171934.1:c.1447G>C, NM_022124.4:c.8167G>C, NM_022124.5:c.8167G>CVOUS05/10/2016
152CDH23Ex58NM_022124.5:c.8225C>Tp.Pro2742Leu | p.P2742LNM_001171933.1:c.1505C>T, NM_001171934.1:c.1505C>T, NM_001171935.1:c.-4969C>T, NM_001171936.1:c.-4969C>T, NM_022124.4:c.8225C>T, NM_022124.5:c.8225C>TVOUS02/01/2016
153CDH23Ex59NM_022124.5:c.8465A>Gp.Asp2822Gly | p.D2822GNM_001171933.1:c.1745A>G, NM_001171934.1:c.1745A>G, NM_001171935.1:c.-4620A>G, NM_001171936.1:c.-4620A>G, NM_022124.4:c.8465A>G, NM_022124.5:c.8465A>GVOUS06/30/2017
154CDH23Ex61NM_022124.5:c.8775C>Tp.Pro2925= | p.P2925=NM_001171933.1:c.2055C>T, NM_001171934.1:c.2055C>T, NM_001171935.1:c.-2420C>T, NM_001171936.1:c.-2420C>T, NM_022124.4:c.8775C>T, NM_022124.5:c.8775C>TVOUS12/02/2016
155CDH23Ex61NM_022124.5:c.8808C>Tp.Asp2936= | p.D2936=NM_001171933.1:c.2088C>T, NM_001171934.1:c.2088C>T, NM_001171935.1:c.-2387C>T, NM_001171936.1:c.-2387C>T, NM_022124.4:c.8808C>T, NM_022124.5:c.8808C>TBenign09/19/2017 
156CDH23Ex61NM_022124.5:c.8813C>Tp.Ala2938Val | p.A2938VNM_001171933.1:c.2093C>T, NM_001171934.1:c.2093C>T, NM_001171935.1:c.-2382C>T, NM_001171936.1:c.-2382C>T, NM_022124.4:c.8813C>T, NM_022124.5:c.8813C>TVOUS08/23/2017
157CDH23Ex61NM_022124.5:c.8823C>Tp.Asn2941= | p.N2941=NM_001171933.1:c.2103C>T, NM_001171934.1:c.2103C>T, NM_001171935.1:c.-2372C>T, NM_001171936.1:c.-2372C>T, NM_022124.4:c.8823C>T, NM_022124.5:c.8823C>TVOUS02/01/2019
158CDH23Ex61NM_022124.5:c.8867G>Ap.Arg2956His | p.R2956HNM_001171933.1:c.2147G>A, NM_001171934.1:c.2147G>A, NM_001171935.1:c.-2328G>A, NM_001171936.1:c.-2328G>A, NM_022124.4:c.8867G>A, NM_022124.5:c.8867G>AVOUS12/27/2013
159CDH23Ex61NM_022124.5:c.8886C>Tp.Asn2962= | p.N2962=NM_001171933.1:c.2166C>T, NM_001171934.1:c.2166C>T, NM_001171935.1:c.-2309C>T, NM_001171936.1:c.-2309C>T, NM_022124.4:c.8886C>T, NM_022124.5:c.8886C>TVOUS01/18/2017
160CDH23Ex61NM_022124.5:c.8895C>Tp.Pro2965= | p.P2965=NM_001171933.1:c.2175C>T, NM_001171934.1:c.2175C>T, NM_001171935.1:c.-2300C>T, NM_001171936.1:c.-2300C>T, NM_022124.4:c.8895C>T, NM_022124.5:c.8895C>TBenign12/27/2013 
161CDH23Ex61NM_022124.5:c.8907C>Tp.Arg2969= | p.R2969=NM_001171933.1:c.2187C>T, NM_001171934.1:c.2187C>T, NM_001171935.1:c.-2288C>T, NM_001171936.1:c.-2288C>T, NM_022124.4:c.8907C>T, NM_022124.5:c.8907C>TBenign06/26/2014 
162CDH23Ex62NM_022124.5:c.9014C>Gp.Ala3005Gly | p.A3005GNM_001171933.1:c.2294C>G, NM_001171934.1:c.2294C>G, NM_001171935.1:c.-1786C>G, NM_001171936.1:c.-1786C>G, NM_022124.4:c.9014C>G, NM_022124.5:c.9014C>GBenign10/28/2016 
163CDH23Ex62NM_022124.5:c.9015G>Ap.Ala3005= | p.A3005=NM_001171933.1:c.2295G>A, NM_001171934.1:c.2295G>A, NM_001171935.1:c.-1785G>A, NM_001171936.1:c.-1785G>A, NM_022124.4:c.9015G>A, NM_022124.5:c.9015G>ABenign04/16/2014 
164CDH23Ex62NM_022124.5:c.9077+7C>TNM_001171933.1:c.2357+7C>T, NM_001171934.1:c.2357+7C>T, NM_001171935.1:c.-1716C>T, NM_001171936.1:c.-1716C>T, NM_022124.4:c.9077+7C>T, NM_022124.5:c.9077+7C>TBenign06/12/2014 
165CDH23Ex64NM_022124.5:c.9204G>Ap.Ala3068= | p.A3068=NM_001042465.1:c.*5925C>T, NM_001042466.1:c.*5925C>T, NM_001171933.1:c.2484G>A, NM_001171934.1:c.2484G>A, NM_001171935.1:c.-776G>A, NM_001171936.1:c.-776G>A, NM_002778.2:c.*5925C>T, NM_022124.4:c.9204G>A, NM_022124.5:c.9204G>ALikely benign01/10/2019 
166CDH23Ex64NM_022124.5:c.9238G>Ap.Ala3080Thr | p.A3080TNM_001042465.1:c.*5891C>T, NM_001042466.1:c.*5891C>T, NM_001171933.1:c.2518G>A, NM_001171934.1:c.2518G>A, NM_001171935.1:c.-742G>A, NM_001171936.1:c.-742G>A, NM_002778.2:c.*5891C>T, NM_022124.4:c.9238G>A, NM_022124.5:c.9238G>ABenign10/28/2016 
167CDH23Ex67NM_022124.5:c.9437C>Tp.Ala3146Val | p.A3146VNM_001042465.1:c.*4905G>A, NM_001042466.1:c.*4905G>A, NM_001171933.1:c.2717C>T, NM_001171934.1:c.2717C>T, NM_001171935.1:c.128C>T, NM_001171936.1:c.128C>T, NM_002778.2:c.*4905G>A, NM_022124.4:c.9437C>T, NM_022124.5:c.9437C>TVOUS02/11/2016
168CDH23Ex67NM_022124.5:c.9500C>Ap.Thr3167Lys | p.T3167KNM_001042465.1:c.*4842G>T, NM_001042466.1:c.*4842G>T, NM_001171933.1:c.2780C>A, NM_001171934.1:c.2780C>A, NM_001171935.1:c.191C>A, NM_001171936.1:c.191C>A, NM_002778.2:c.*4842G>T, NM_022124.4:c.9500C>A, NM_022124.5:c.9500C>AVOUS08/16/2016
169CDH23Ex67NM_022124.5:c.9501G>Ap.Thr3167= | p.T3167=NM_001042465.1:c.*4841C>T, NM_001042466.1:c.*4841C>T, NM_001171933.1:c.2781G>A, NM_001171934.1:c.2781G>A, NM_001171935.1:c.192G>A, NM_001171936.1:c.192G>A, NM_002778.2:c.*4841C>T, NM_022124.4:c.9501G>A, NM_022124.5:c.9501G>ALikely benign07/06/2018 
170CDH23Ex68NM_022124.5:c.9524G>Ap.Arg3175His | p.R3175HNM_001042465.1:c.*4660C>T, NM_001042466.1:c.*4660C>T, NM_001171933.1:c.2804G>A, NM_001171934.1:c.2804G>A, NM_001171935.1:c.215G>A, NM_001171936.1:c.215G>A, NM_002778.2:c.*4660C>T, NM_022124.4:c.9524G>A, NM_022124.5:c.9524G>AVOUS07/19/2016
171CDH23Ex68NM_022124.5:c.9569C>Tp.Ala3190Val | p.A3190VNM_001042465.1:c.*4615G>A, NM_001042466.1:c.*4615G>A, NM_001171933.1:c.2849C>T, NM_001171934.1:c.2849C>T, NM_001171935.1:c.260C>T, NM_001171936.1:c.260C>T, NM_002778.2:c.*4615G>A, NM_022124.4:c.9569C>T, NM_022124.5:c.9569C>TVOUS05/21/2019
172CDH23Ex68NM_022124.5:c.9629T>Cp.Ile3210Thr | p.I3210TNM_001042465.1:c.*4555A>G, NM_001042466.1:c.*4555A>G, NM_001171933.1:c.2909T>C, NM_001171934.1:c.2909T>C, NM_001171935.1:c.320T>C, NM_001171936.1:c.320T>C, NM_002778.2:c.*4555A>G, NM_022124.4:c.9629T>C, NM_022124.5:c.9629T>CVOUS04/17/2020
173CDH23Ex69NM_022124.5:c.9670C>Tp.Arg3224Trp | p.R3224WNM_001042465.1:c.*4161G>A, NM_001042466.1:c.*4161G>A, NM_001171933.1:c.2950C>T, NM_001171934.1:c.2913+390C>T, NM_001171935.1:c.361C>T, NM_001171936.1:c.324+390C>T, NM_002778.2:c.*4161G>A, NM_022124.4:c.9670C>T, NM_022124.5:c.9670C>TVOUS10/28/2015
174CDH23Ex70NM_022124.5:c.9758A>Cp.Asp3253Ala | p.D3253ANM_001042465.1:c.*2470T>G, NM_001042466.1:c.*2470T>G, NM_001171933.1:c.3038A>C, NM_001171934.1:c.2933A>C, NM_001171935.1:c.449A>C, NM_001171936.1:c.344A>C, NM_002778.2:c.*2470T>G, NM_022124.4:c.9758A>C, NM_022124.5:c.9758A>CBenign10/29/2013 
175CDH23Ex70NM_022124.5:c.9759C>Tp.Asp3253= | p.D3253=NM_001042465.1:c.*2469G>A, NM_001042466.1:c.*2469G>A, NM_001171933.1:c.3039C>T, NM_001171934.1:c.2934C>T, NM_001171935.1:c.450C>T, NM_001171936.1:c.345C>T, NM_002778.2:c.*2469G>A, NM_022124.4:c.9759C>T, NM_022124.5:c.9759C>TVOUS11/10/2014
176CDH23Ex70NM_022124.5:c.9873G>Ap.Thr3291= | p.T3291=NM_001042465.1:c.*2355C>T, NM_001042466.1:c.*2355C>T, NM_001171933.1:c.3153G>A, NM_001171934.1:c.3048G>A, NM_001171935.1:c.564G>A, NM_001171936.1:c.459G>A, NM_002778.2:c.*2355C>T, NM_022124.4:c.9873G>A, NM_022124.5:c.9873G>ABenign08/11/2014 
177CDH23Ex70NM_022124.5:c.9903C>Tp.Pro3301= | p.P3301=NM_001042465.1:c.*2325G>A, NM_001042466.1:c.*2325G>A, NM_001171933.1:c.3183C>T, NM_001171934.1:c.3078C>T, NM_001171935.1:c.594C>T, NM_001171936.1:c.489C>T, NM_002778.2:c.*2325G>A, NM_022124.4:c.9903C>T, NM_022124.5:c.9903C>TLikely benign01/27/2015 
178CDH23Ex70NM_022124.5:c.9947C>Tp.Thr3316Ile | p.T3316INM_001042465.1:c.*2281G>A, NM_001042466.1:c.*2281G>A, NM_001171933.1:c.3227C>T, NM_001171934.1:c.3122C>T, NM_001171935.1:c.638C>T, NM_001171936.1:c.533C>T, NM_002778.2:c.*2281G>A, NM_022124.4:c.9947C>T, NM_022124.5:c.9947C>TVOUS05/17/2016
179CDH23Ex70NM_022124.5:c.10021C>Tp.Arg3341Cys | p.R3341CNM_001042465.1:c.*2207G>A, NM_001042466.1:c.*2207G>A, NM_001171933.1:c.3301C>T, NM_001171934.1:c.3196C>T, NM_001171935.1:c.712C>T, NM_001171936.1:c.607C>T, NM_002778.2:c.*2207G>A, NM_022124.4:c.10021C>T, NM_022124.5:c.10021C>TVOUS01/29/2015
180CDH23Ex70NM_022124.5:c.10026C>Tp.Asp3342= | p.D3342=NM_001042465.1:c.*2202G>A, NM_001042466.1:c.*2202G>A, NM_001171933.1:c.3306C>T, NM_001171934.1:c.3201C>T, NM_001171935.1:c.717C>T, NM_001171936.1:c.612C>T, NM_002778.2:c.*2202G>A, NM_022124.4:c.10026C>T, NM_022124.5:c.10026C>TBenign04/07/2016 
181CDH23Ex70NM_022124.5:c.10036G>Cp.Glu3346Gln | p.E3346QNM_001042465.1:c.*2192C>G, NM_001042466.1:c.*2192C>G, NM_001171933.1:c.3316G>C, NM_001171934.1:c.3211G>C, NM_001171935.1:c.727G>C, NM_001171936.1:c.622G>C, NM_002778.2:c.*2192C>G, NM_022124.4:c.10036G>C, NM_022124.5:c.10036G>CVOUS08/11/2014

* 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.