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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  
1CHD7Ex2NM_017780.3:c.90G>Ap.Pro30= | p.P30=NM_017780.2:c.90G>A, NM_017780.3:c.90G>A, XM_005251266.1:c.90G>A, XM_005251267.1:c.90G>AVOUS08/20/2014
2CHD7Ex2NM_017780.3:c.156A>Gp.Pro52= | p.P52=NM_017780.2:c.156A>G, NM_017780.3:c.156A>GVOUS10/16/2013
3CHD7Ex2NM_017780.3:c.216T>Cp.Tyr72= | p.Y72=NM_017780.2:c.216T>C, NM_017780.3:c.216T>CBenign09/17/2013 
4CHD7Ex2NM_017780.3:c.240G>Ap.Met80Ile | p.M80INM_017780.2:c.240G>A, NM_017780.3:c.240G>A, XM_005251266.1:c.240G>A, XM_005251267.1:c.240G>AVOUS07/15/2014
5CHD7Ex2NM_017780.3:c.272G>Ap.Ser91Asn | p.S91NNM_017780.2:c.272G>A, NM_017780.3:c.272G>A, XM_005251266.1:c.272G>A, XM_005251267.1:c.272G>AVOUS09/12/2014
6CHD7Ex2NM_017780.3:c.277A>Gp.Thr93Ala | p.T93ANM_017780.2:c.277A>G, NM_017780.3:c.277A>G, XM_005251267.1:c.277A>GVOUS09/02/2015
7CHD7Ex2NM_017780.3:c.307T>Ap.Ser103Thr | p.S103TNM_017780.2:c.307T>A, NM_017780.3:c.307T>A, XM_005251267.1:c.307T>ABenign02/15/2016 
8CHD7Ex2NM_017780.3:c.309G>Ap.Ser103= | p.S103=NM_017780.2:c.309G>A, NM_017780.2:p.(=), NM_017780.2:p.S103S, NM_017780.3:c.309G>ABenign09/26/2013 
9CHD7Ex2NM_017780.3:c.323C>Ap.Pro108His | p.P108HNM_017780.2:c.323C>A, NM_017780.3:c.323C>A, XM_005251266.1:c.323C>A, XM_005251267.1:c.323C>AVOUS03/03/2015
10CHD7Ex2NM_017780.3:c.331C>Tp.Pro111Ser | p.P111SNM_017780.2:c.331C>T, NM_017780.3:c.331C>TVOUS10/16/2013
11CHD7Ex2NM_017780.3:c.360C>Tp.Gly120= | p.G120=NM_017780.2:c.360C>T, NM_017780.3:c.360C>T, XM_005251266.1:c.360C>T, XM_005251267.1:c.360C>TVOUS06/12/2014
12CHD7Ex2NM_017780.3:c.380delCLRG_176t1:c.380delC, NM_017780.2:c.380delC, NM_017780.3:c.380delC, XM_005251266.1:c.380delC, XM_005251267.1:c.380delCPathogenic06/07/2016 
13CHD7Ex2NM_017780.3:c.469C>Tp.Arg157* | p.R157XNM_017780.2:c.469C>T, NM_017780.3:c.469C>T, XM_005251266.1:c.469C>T, XM_005251267.1:c.469C>TPathogenic07/22/2014 
14CHD7Ex2NM_017780.3:c.484C>Tp.Gln162* | p.Q162XNM_017780.2:c.484C>T, NM_017780.2:p.Gln162*, NM_017780.2:p.Q162*, NM_017780.3:c.484C>TPathogenic** 
15CHD7Ex2NM_017780.3:c.499C>Ap.Pro167Thr | p.P167TLRG_176t1:c.499C>A, NM_017780.2:c.499C>A, NM_017780.3:c.499C>A, XM_005251266.1:c.499C>A, XM_005251267.1:c.499C>AVOUS11/03/2017
16CHD7Ex2NM_017780.3:c.500C>Tp.Pro167Leu | p.P167LLRG_176t1:c.500C>T, NM_017780.2:c.500C>T, NM_017780.3:c.500C>T, XM_005251266.1:c.500C>T, XM_005251267.1:c.500C>TVOUS12/16/2016
17CHD7Ex2NM_017780.3:c.535G>Ap.Ala179Thr | p.A179TNM_017780.2:c.535G>A, NM_017780.3:c.535G>A, XM_005251266.1:c.535G>A, XM_005251267.1:c.535G>AVOUS01/07/2015
18CHD7Ex2NM_017780.3:c.656G>Ap.Gly219Asp | p.G219DNM_017780.2:c.656G>A, NM_017780.3:c.656G>A, XM_005251266.1:c.656G>A, XM_005251267.1:c.656G>AVOUS03/30/2015
19CHD7Ex2NM_017780.3:c.657C>Tp.Gly219= | p.G219=NM_017780.2:c.657C>T, NM_017780.2:p.(=), NM_017780.2:p.G219G, NM_017780.3:c.657C>TBenign10/28/2014 
20CHD7Ex2NM_017780.3:c.712G>Ap.Val238Met | p.V238MNM_017780.2:c.712G>A, NM_017780.3:c.712G>A, XM_005251266.1:c.712G>A, XM_005251267.1:c.712G>ABenign06/05/2014 
21CHD7Ex2NM_017780.3:c.768C>Tp.Phe256= | p.F256=VOUS02/18/2014
22CHD7Ex2NM_017780.3:c.856A>Gp.Arg286Gly | p.R286GNM_017780.2:c.856A>G, NM_017780.3:c.856A>GBenign01/16/2014 
23CHD7Ex2NM_017780.3:c.911T>Cp.Ile304Thr | p.I304TLRG_176t1:c.911T>C, NM_017780.2:c.911T>C, NM_017780.3:c.911T>C, XM_005251266.1:c.911T>C, XM_005251267.1:c.911T>CVOUS04/13/2017
24CHD7Ex2NM_017780.3:c.1018A>Gp.Met340Val | p.M340VBenign12/27/2012 
25CHD7Ex2NM_017780.3:c.1046A>Gp.Asn349Ser | p.N349SNM_017780.2:c.1046A>G, NM_017780.3:c.1046A>G, XM_005251266.1:c.1046A>G, XM_005251267.1:c.1046A>GVOUS05/12/2016
26CHD7Ex2NM_017780.3:c.1090C>Tp.Gln364* | p.Q364XPathogenic02/18/2014 
27CHD7Ex2NM_017780.3:c.1104C>Tp.His368= | p.H368=NM_017780.2:c.1104C>T, NM_017780.3:c.1104C>T, XM_005251266.1:c.1104C>T, XM_005251267.1:c.1104C>TVOUS11/03/2015
28CHD7Ex2NM_017780.3:c.1170T>Cp.Tyr390= | p.Y390=NM_017780.2:c.1170T>C, NM_017780.3:c.1170T>C, XM_005251266.1:c.1170T>C, XM_005251267.1:c.1170T>CVOUS07/07/2014
29CHD7Ex2NM_017780.3:c.1179A>Gp.Pro393= | p.P393=NM_017780.2:c.1179A>G, NM_017780.3:c.1179A>G, XM_005251266.1:c.1179A>G, XM_005251267.1:c.1179A>GBenign07/08/2015 
30CHD7Ex2NM_017780.3:c.1188G>Tp.Met396Ile | p.M396ILRG_176t1:c.1188G>T, NM_017780.2:c.1188G>T, NM_017780.3:c.1188G>T, XM_005251266.1:c.1188G>T, XM_005251267.1:c.1188G>TLikely benign08/29/2016 
31CHD7Ex2NM_017780.3:c.1224_1234delTCCTCCTCCACNM_017780.2:c.1224_1234delTCCTCCTCCAC, NM_017780.3:c.1224_1234delTCCTCCTCCAC, XM_005251266.1:c.1224_1234delTCCTCCTCCAC, XM_005251267.1:c.1224_1234delTCCTCCTCCACPathogenic10/21/2014 
32CHD7Ex2NM_017780.3:c.1327A>Gp.Met443Val | p.M443VLRG_176t1:c.1327A>G, NM_017780.2:c.1327A>G, NM_017780.3:c.1327A>G, XM_005251266.1:c.1327A>G, XM_005251267.1:c.1327A>GVOUS02/13/2018
33CHD7Ex2NM_017780.3:c.1369C>Tp.Gln457* | p.Q457XNM_017780.2:c.1369C>T, NM_017780.3:c.1369C>TPathogenic12/11/2013 
34CHD7Ex2NM_017780.3:c.1397C>Tp.Ser466Leu | p.S466LLRG_176t1:c.1397C>T, NM_017780.2:c.1397C>T, NM_017780.3:c.1397C>T, XM_005251266.1:c.1397C>T, XM_005251267.1:c.1397C>TLikely benign04/19/2016 
35CHD7Ex2NM_017780.3:c.1419G>Cp.Gly473= | p.G473=NM_017780.2:c.1419G>C, NM_017780.2:p.(=), NM_017780.2:p.G473G, NM_017780.3:c.1419G>CBenign08/08/2013 
36CHD7Ex2NM_017780.3:c.1465C>Tp.Gln489* | p.Q489XNM_017780.2:c.1465C>T, NM_017780.3:c.1465C>T, XM_005251266.1:c.1465C>T, XM_005251267.1:c.1465C>TPathogenic01/24/2015 
37CHD7Ex2NM_017780.3:c.1499A>Gp.Gln500Arg | p.Q500RLRG_176t1:c.1499A>G, NM_017780.2:c.1499A>G, NM_017780.3:c.1499A>G, XM_005251266.1:c.1499A>G, XM_005251267.1:c.1499A>GVOUS05/26/2017
38CHD7Ex2NM_017780.3:c.1534C>Gp.Pro512Ala | p.P512ALRG_176t1:c.1534C>G, NM_017780.2:c.1534C>G, NM_017780.3:c.1534C>G, XM_005251266.1:c.1534C>G, XM_005251267.1:c.1534C>GVOUS06/22/2018
39CHD7Ex2NM_017780.3:c.1536A>Gp.Pro512= | p.P512=NM_017780.2:c.1536A>G, NM_017780.3:c.1536A>G, XM_005251266.1:c.1536A>G, XM_005251267.1:c.1536A>GBenign01/06/2015 
40CHD7Ex2NM_017780.3:c.1565G>Tp.Gly522Val | p.G522VNM_017780.2:c.1565G>T, NM_017780.3:c.1565G>T, XM_005251266.1:c.1565G>T, XM_005251267.1:c.1565G>TBenign02/04/2016 
41CHD7Ex2NM_017780.3:c.1644G>Ap.Pro548= | p.P548=NM_017780.2:c.1644G>A, NM_017780.3:c.1644G>A, XM_005251266.1:c.1644G>A, XM_005251267.1:c.1644G>AVOUS02/20/2015
42CHD7Ex2NM_017780.3:c.1665+34G>ANM_017780.2:c.1665+34G>ABenign** 
43CHD7Ex3NM_017780.3:c.1698A>Gp.Pro566= | p.P566=NM_017780.2:c.1698A>G, NM_017780.3:c.1698A>G, XM_005251266.1:c.1698A>G, XM_005251267.1:c.1698A>GVOUS02/26/2014
44CHD7Ex3NM_017780.3:c.1708A>Gp.Met570Val | p.M570VLRG_176t1:c.1708A>G, NM_017780.2:c.1708A>G, NM_017780.3:c.1708A>G, XM_005251266.1:c.1708A>G, XM_005251267.1:c.1708A>GVOUS06/21/2019
45CHD7Ex3NM_017780.3:c.1867G>Cp.Gly623Arg | p.G623RLRG_176t1:c.1867G>C, NM_017780.2:c.1867G>C, NM_017780.3:c.1867G>C, XM_005251266.1:c.1867G>C, XM_005251267.1:c.1867G>CVOUS07/12/2017
46CHD7Ex3NM_017780.3:c.2053_2058dupGCAAAANM_017780.2:c.2053_2058dup, NM_017780.2:c.2058_2059insGCAAAA, NM_017780.3:c.2053_2058dup, NM_017780.3:c.2058_2059insGCAAAA, XM_005251267.1:c.2058_2059insGCAAAABenign10/15/2013 
47CHD7Ex3NM_017780.3:c.2058_2059insGCAAAANM_017780.2:c.2058_2059insGCAAAA, NM_017780.3:c.2053_2058dupGCAAAA, NM_017780.3:c.2058_2059insGCAAAA, XM_005251267.1:c.2058_2059insGCAAAABenign12/06/2013 
48CHD7Ex3NM_017780.3:c.2067G>Ap.Thr689= | p.T689=NM_017780.2:c.2067G>A, NM_017780.3:c.2067G>A, XM_005251266.1:c.2067G>A, XM_005251267.1:c.2067G>AVOUS10/19/2016
49CHD7Ex4NM_017780.3:c.2124T>Cp.Ser708= | p.S708=NM_017780.2:c.2124T>C, NM_017780.2:p.(=), NM_017780.2:p.S708S, NM_017780.3:c.2124T>CBenign10/28/2014 
50CHD7Ex4NM_017780.3:c.2185A>Gp.Lys729Glu | p.K729ELRG_176t1:c.2185A>G, NM_017780.2:c.2185A>G, NM_017780.3:c.2185A>G, XM_005251266.1:c.2185A>G, XM_005251267.1:c.2185A>GVOUS12/20/2017
51CHD7Ex4NM_017780.3:c.2194C>Gp.Pro732Ala | p.P732ANM_017780.2:c.2194C>G, NM_017780.3:c.2194C>G, XM_005251266.1:c.2194C>G, XM_005251267.1:c.2194C>GVOUS11/03/2014
52CHD7Ex4NM_017780.3:c.2230G>Ap.Gly744Ser | p.G744SNM_017780.2:c.2230G>A, NM_017780.2:p.G744S, NM_017780.2:p.Gly744Ser, NM_017780.3:c.2230G>ABenign02/28/2014 
53CHD7Ex4NM_017780.3:c.2238+6A>GNM_017780.2:c.2238+6A>G, NM_017780.3:c.2238+6A>G, XM_005251266.1:c.2238+6A>G, XM_005251267.1:c.2238+6A>GVOUS07/08/2015
54CHD7Ex4NM_017780.3:c.2238+39G>ANM_017780.2:c.2238+39G>ABenign** 
55CHD7Ex5NM_017780.3:c.2376+43_2376+48dupTGGACTNM_017780.2:c.2376+43_2376+48dupTGGACTBenign** 
56CHD7Ex6NM_017780.3:c.2377-3dupTNM_017780.2:c.2377-3_2377-2insT, NM_017780.3:c.2377-3_2377-2insTBenign04/09/2014 
57CHD7Ex6NM_017780.3:c.2436A>Tp.Lys812Asn | p.K812NLRG_176t1:c.2436A>T, NM_017780.2:c.2436A>T, NM_017780.3:c.2436A>T, XM_005251266.1:c.2436A>T, XM_005251267.1:c.2436A>TBenign05/23/2019 
58CHD7Ex6NM_017780.3:c.2442+26T>ANM_017780.2:c.2442+26T>AVOUS**
59CHD7Ex6NM_017780.3:c.2442+38A>TNM_017780.2:c.2442+38A>TBenign** 
60CHD7Ex9NM_017780.3:c.2614-45A>GNM_017780.2:c.2614-45A>G, NM_017780.3:c.2614-45A>GBenign** 
61CHD7Ex9NM_017780.3:c.2614-7G>TNM_017780.2:c.2614-7G>T, NM_017780.3:c.2614-7G>T, XM_005251266.1:c.2614-7G>T, XM_005251267.1:c.2614-7G>TVOUS05/26/2015
62CHD7Ex9NM_017780.3:c.2642dupAp.Tyr881* | p.Y881XLRG_176t1:c.2642dupA, NM_017780.2:c.2642dupA, NM_017780.3:c.2642dupA, XM_005251266.1:c.2642dupA, XM_005251267.1:c.2642dupAPathogenic07/01/2019 
63CHD7Ex9NM_017780.3:c.2670dupTp.Ala891Cysfs*3 | p.A891CfsX3LRG_176t1:c.2670dupT, NM_017780.2:c.2670dupT, NM_017780.3:c.2670dupT, XM_005251266.1:c.2670dupT, XM_005251267.1:c.2670dupTPathogenic04/01/2019 
64CHD7Ex9NM_017780.3:c.2680A>Gp.Thr894Ala | p.T894ANM_017780.2:c.2680A>G, NM_017780.3:c.2680A>G, XM_005251266.1:c.2680A>G, XM_005251267.1:c.2680A>GBenign02/09/2017 
65CHD7Ex10NM_017780.3:c.2751G>Ap.Thr917= | p.T917=NM_017780.2:c.2751G>A, NM_017780.3:c.2751G>A, XM_005251266.1:c.2751G>A, XM_005251267.1:c.2751G>AVOUS02/14/2015
66CHD7Ex10NM_017780.3:c.2835+8T>CNM_017780.2:c.2835+8T>C, NM_017780.3:c.2835+8T>C, XM_005251266.1:c.2835+8T>C, XM_005251267.1:c.2835+8T>CLikely benign07/29/2015 
67CHD7Ex10NM_017780.3:c.2835+24A>TNM_017780.2:c.2835+24A>TVOUS**
68CHD7Ex11NM_017780.3:c.2839C>Tp.Arg947* | p.R947XPathogenic02/20/2013 
69CHD7Ex11NM_017780.3:c.2848delGLRG_176t1:c.2848delG, NM_017780.2:c.2848delG, NM_017780.3:c.2848delG, XM_005251266.1:c.2848delG, XM_005251267.1:c.2848delGPathogenic05/04/2016 
70CHD7Ex11NM_017780.3:c.2857delTNM_017780.2:c.2857delTPathogenic** 
71CHD7Ex11NM_017780.3:c.2923_2926delGGAGp.Gly975* | p.G975XLRG_176t1:c.2923_2926delGGAG, NM_017780.2:c.2923_2926delGGAG, NM_017780.3:c.2923_2926delGGAG, XM_005251266.1:c.2923_2926delGGAG, XM_005251267.1:c.2923_2926delGGAGPathogenic07/10/2019 
72CHD7Ex11NM_017780.3:c.2933G>Ap.Trp978* | p.W978XNM_017780.2:c.2933G>A, NM_017780.3:c.2933G>APathogenic04/15/2014 
73CHD7Ex11NM_017780.3:c.2945A>Gp.Asn982Ser | p.N982SLRG_176t1:c.2945A>G, NM_017780.2:c.2945A>G, NM_017780.3:c.2945A>G, XM_005251266.1:c.2945A>G, XM_005251267.1:c.2945A>GVOUS08/17/2016
74CHD7Ex12NM_017780.3:c.2960G>Ap.Arg987Gln | p.R987QLRG_176t1:c.2960G>A, NM_017780.2:c.2960G>A, NM_017780.3:c.2960G>A, XM_005251266.1:c.2960G>A, XM_005251267.1:c.2960G>AVOUS07/13/2016
75CHD7Ex12NM_017780.3:c.3021C>Gp.Leu1007= | p.L1007=LRG_176t1:c.3021C>G, NM_017780.2:c.3021C>G, NM_017780.3:c.3021C>G, XM_005251266.1:c.3021C>G, XM_005251267.1:c.3021C>GVOUS06/14/2019
76CHD7Ex12NM_017780.3:c.3082A>Gp.Ile1028Val | p.I1028VNM_017780.2:c.3082A>G, NM_017780.3:c.3082A>GPathogenic08/27/2013 
77CHD7Ex12NM_017780.3:c.3148C>Tp.Gln1050* | p.Q1050XNM_017780.2:c.3148C>T, NM_017780.2:p.Gln1050*, NM_017780.2:p.Q1050*Pathogenic** 
78CHD7Ex12NM_017780.3:c.3201G>Tp.Gln1067His | p.Q1067HNM_017780.2:c.3201G>T, NM_017780.2:p.Gln1067His, NM_017780.2:p.Q1067HVOUS**
79CHD7Ex13NM_017780.3:c.3202-5T>CNM_017780.2:c.3202-5T>C, NM_017780.3:c.3202-5T>CBenign03/26/2015 
80CHD7Ex13NM_017780.3:c.3241A>Gp.Ile1081Val | p.I1081VNM_017780.2:c.3241A>G, NM_017780.3:c.3241A>G, XM_005251266.1:c.3241A>G, XM_005251267.1:c.3241A>GVOUS08/13/2015
81CHD7Ex13NM_017780.3:c.3301T>Cp.Cys1101Arg | p.C1101RLRG_176t1:c.3301T>C, NM_017780.2:c.3301T>C, NM_017780.3:c.3301T>C, XM_005251266.1:c.3301T>C, XM_005251267.1:c.3301T>CPathogenic08/13/2019 
82CHD7Ex13NM_017780.3:c.3308T>Ap.Val1103Asp | p.V1103DNM_017780.2:c.3308T>A, NM_017780.2:p.V1103D, NM_017780.2:p.Val1103AspVOUS**
83CHD7Ex13NM_017780.3:c.3366G>Cp.Lys1122Asn | p.K1122NNM_017780.2:c.3366G>C, NM_017780.3:c.3366G>C, XM_005251267.1:c.3366G>CVOUS10/10/2016
84CHD7Ex14NM_017780.3:c.3463C>Tp.Arg1155Cys | p.R1155CNM_017780.2:c.3463C>T, NM_017780.3:c.3463C>T, XM_005251266.1:c.3463C>T, XM_005251267.1:c.3463C>TVOUS03/25/2015
85CHD7Ex14NM_017780.3:c.3487A>Gp.Met1163Val | p.M1163VLRG_176t1:c.3487A>G, NM_017780.2:c.3487A>G, NM_017780.3:c.3487A>G, XM_005251266.1:c.3487A>G, XM_005251267.1:c.3487A>GLikely benign11/30/2016 
86CHD7Ex15NM_017780.3:c.3697G>Ap.Gly1233Ser | p.G1233SNM_017780.2:c.3697G>A, NM_017780.2:p.G1233S, NM_017780.2:p.Gly1233Ser, NM_017780.3:c.3697G>A, XM_005251266.1:c.3697G>A, XM_005251267.1:c.3697G>ABenign05/27/2014 
87CHD7Ex15NM_017780.3:c.3712G>Ap.Val1238Ile | p.V1238INM_017780.2:c.3712G>A, NM_017780.3:c.3712G>A, XM_005251266.1:c.3712G>A, XM_005251267.1:c.3712G>AVOUS12/10/2014
88CHD7Ex16NM_017780.3:c.3868G>Cp.Gly1290Arg | p.G1290RNM_017780.2:c.3868G>C, NM_017780.3:c.3868G>CVOUS10/02/2013
89CHD7Ex16NM_017780.3:c.3949C>Tp.Arg1317Cys | p.R1317CNM_017780.2:c.3949C>T, NM_017780.3:c.3949C>T, XM_005251267.1:c.3949C>TVOUS07/13/2016
90CHD7Ex16NM_017780.3:c.3973T>Cp.Tyr1325His | p.Y1325HNM_017780.2:c.3973T>C, NM_017780.3:c.3973T>C, XM_005251266.1:c.3973T>C, XM_005251267.1:c.3973T>CVOUS07/26/2018
91CHD7Ex16NM_017780.3:c.3989+51C>ANM_017780.2:c.3989+51C>ABenign** 
92CHD7Ex17NM_017780.3:c.4015C>Tp.Arg1339* | p.R1339XLRG_176t1:c.4015C>T, NM_017780.2:c.4015C>T, NM_017780.2:p.Arg1339*, NM_017780.2:p.R1339*, NM_017780.3:c.4015C>T, XM_005251267.1:c.4015C>TPathogenic05/15/2018 
93CHD7Ex17NM_017780.3:c.4137T>Cp.Asp1379= | p.D1379=NM_017780.2:c.4137T>C, NM_017780.3:c.4137T>C, XM_005251266.1:c.4137T>C, XM_005251267.1:c.4137T>CVOUS06/12/2014
94CHD7Ex17NM_017780.3:c.4185+1G>APathogenic07/03/2019 
95CHD7Ex19NM_017780.3:c.4379_4380delTANM_017780.2:c.4379_4380delTA, NM_017780.3:c.4379_4380delTAPathogenic09/06/2013 
96CHD7Ex19NM_017780.3:c.4393C>Tp.Arg1465* | p.R1465XLRG_176t1:c.4393C>T, NM_017780.2:c.4393C>T, NM_017780.3:c.4393C>T, XM_005251266.1:c.4393C>T, XM_005251267.1:c.4393C>TPathogenic04/23/2019 
97CHD7Ex19NM_017780.3:c.4437G>Ap.Gly1479= | p.G1479=NM_017780.2:c.4437G>A, NM_017780.3:c.4437G>AVOUS03/15/2013
98CHD7Ex19NM_017780.3:c.4533+46A>GNM_017780.2:c.4533+46A>GBenign** 
99CHD7Ex20NM_017780.3:c.4534-20C>TNM_017780.2:c.4534-20C>T, NM_017780.3:c.4534-20C>TVOUS01/23/2014
100CHD7Ex20NM_017780.3:c.4534-13T>GNM_017780.2:c.4534-13T>G, NM_017780.3:c.4534-13T>G, XM_005251266.1:c.4534-13T>G, XM_005251267.1:c.4534-13T>GBenign10/28/2014 
101CHD7Ex20NM_017780.3:c.4597A>Tp.Lys1533* | p.K1533XNM_017780.2:c.4597A>T, NM_017780.2:p.K1533*, NM_017780.2:p.Lys1533*Pathogenic** 
102CHD7Ex21NM_017780.3:c.4793C>Gp.Ser1598* | p.S1598XLRG_176t1:c.4793C>G, NM_017780.2:c.4793C>G, NM_017780.3:c.4793C>G, XM_005251266.1:c.4793C>G, XM_005251267.1:c.4793C>GPathogenic07/14/2017 
103CHD7Ex22NM_017780.3:c.4851T>Cp.Gly1617= | p.G1617=VOUS09/06/2012
104CHD7Ex22NM_017780.3:c.4877C>Tp.Ser1626Phe | p.S1626FNM_017780.2:c.4877C>T, NM_017780.3:c.4877C>T, XM_005251266.1:c.4877C>T, XM_005251267.1:c.4877C>TVOUS08/20/2015
105CHD7Ex23NM_017780.3:c.5051-4C>TNM_017780.2:c.5051-4C>T, NM_017780.3:c.5051-4C>TBenign08/27/2013 
106CHD7Ex23NM_017780.3:c.5105G>Ap.Ser1702Asn | p.S1702NNM_017780.2:c.5105G>A, NM_017780.3:c.5105G>A, XM_005251266.1:c.5105G>A, XM_005251267.1:c.5105G>AVOUS07/22/2015
107CHD7Ex23NM_017780.3:c.5115G>Ap.Pro1705= | p.P1705=NM_017780.2:c.5115G>A, NM_017780.3:c.5115G>A, XM_005251266.1:c.5115G>A, XM_005251267.1:c.5115G>AVOUS12/30/2014
108CHD7Ex23NM_017780.3:c.5181C>Gp.Tyr1727* | p.Y1727XNM_017780.2:c.5181C>G, NM_017780.3:c.5181C>GPathogenic08/09/2013 
109CHD7Ex24NM_017780.3:c.5275A>Cp.Lys1759Gln | p.K1759QLRG_176t1:c.5275A>C, NM_017780.2:c.5275A>C, NM_017780.3:c.5275A>C, XM_005251266.1:c.5275A>C, XM_005251267.1:c.5275A>CVOUS12/05/2016
110CHD7Ex24NM_017780.3:c.5300+8C>TLRG_176t1:c.5300+8C>T, NM_017780.2:c.5300+8C>T, NM_017780.3:c.5300+8C>T, XM_005251266.1:c.5300+8C>T, XM_005251267.1:c.5300+8C>TLikely benign05/10/2016 
111CHD7Ex25NM_017780.3:c.5307C>Tp.Ala1769= | p.A1769=NM_017780.2:c.5307C>T, NM_017780.2:p.(=), NM_017780.2:p.A1769A, NM_017780.3:c.5307C>TBenign02/20/2013 
112CHD7Ex25NM_017780.3:c.5310T>Cp.Asp1770= | p.D1770=NM_017780.2:c.5310T>C, NM_017780.3:c.5310T>C, XM_005251266.1:c.5310T>C, XM_005251267.1:c.5310T>CVOUS01/30/2015
113CHD7Ex26NM_017780.3:c.5405-17G>ANM_017780.2:c.5405-17G>A, NM_017780.3:c.5405-17G>A, XM_005251266.1:c.5405-17G>A, XM_005251267.1:c.5405-17G>APathogenic04/20/2020 
114CHD7Ex26NM_017780.3:c.5405-7G>ANM_017780.2:c.5405-7G>A, NM_017780.3:c.5405-7G>A, XM_005251267.1:c.5405-7G>APathogenic01/12/2015 
115CHD7Ex26NM_017780.3:c.5439C>Tp.Pro1813= | p.P1813=NM_017780.2:c.5439C>T, NM_017780.3:c.5439C>TVOUS01/10/2014
116CHD7Ex26NM_017780.3:c.5496G>Ap.Glu1832= | p.E1832=LRG_176t1:c.5496G>A, NM_017780.2:c.5496G>A, NM_017780.3:c.5496G>A, XM_005251266.1:c.5496G>A, XM_005251267.1:c.5496G>AVOUS09/08/2016
117CHD7Ex28NM_017780.3:c.5608-1G>ANM_017780.2:c.5608-1G>APathogenic** 
118CHD7Ex29NM_017780.3:c.5697C>Gp.Gly1899= | p.G1899=NM_017780.2:c.5697C>G, NM_017780.3:c.5697C>GVOUS01/16/2014
119CHD7Ex29NM_017780.3:c.5754T>Cp.Thr1918= | p.T1918=NM_017780.2:c.5754T>C, NM_017780.3:c.5754T>CBenign10/16/2013 
120CHD7Ex29NM_017780.3:c.5757C>Gp.Ala1919= | p.A1919=NM_017780.2:c.5757C>G, NM_017780.3:c.5757C>G, XM_005251266.1:c.5757C>G, XM_005251267.1:c.5757C>GBenign08/12/2015 
121CHD7Ex29NM_017780.3:c.5761C>Tp.Gln1921* | p.Q1921XLRG_176t1:c.5761C>T, NM_017780.2:c.5761C>T, NM_017780.3:c.5761C>T, XM_005251266.1:c.5761C>T, XM_005251267.1:c.5761C>TPathogenic03/01/2019 
122CHD7Ex29NM_017780.3:c.5824C>Tp.Arg1942Trp | p.R1942WLRG_176t1:c.5824C>T, NM_017780.2:c.5824C>T, NM_017780.3:c.5824C>T, XM_005251266.1:c.5824C>T, XM_005251267.1:c.5824C>TVOUS12/07/2018
123CHD7Ex29NM_017780.3:c.5828G>Ap.Arg1943Gln | p.R1943QNM_017780.2:c.5828G>A, NM_017780.3:c.5828G>A, XM_005251266.1:c.5828G>A, XM_005251267.1:c.5828G>AVOUS07/16/2015
124CHD7Ex29NM_017780.3:c.5848G>Ap.Ala1950Thr | p.A1950TNM_017780.2:c.5848G>A, NM_017780.3:c.5848G>A, XM_005251266.1:c.5848G>A, XM_005251267.1:c.5848G>AVOUS02/03/2015
125CHD7Ex30NM_017780.3:c.5895-1G>CNM_017780.2:c.5895-1G>C, NM_017780.3:c.5895-1G>CPathogenic07/10/2013 
126CHD7Ex30NM_017780.3:c.5971C>Tp.Gln1991* | p.Q1991XLRG_176t1:c.5971C>T, NM_017780.2:c.5971C>T, NM_017780.3:c.5971C>T, XM_005251266.1:c.5971C>T, XM_005251267.1:c.5971C>TPathogenic08/23/2017 
127CHD7Ex30NM_017780.3:c.5973A>Gp.Gln1991= | p.Q1991=NM_017780.2:c.5973A>G, NM_017780.3:c.5973A>G, XM_005251266.1:c.5973A>G, XM_005251267.1:c.5973A>GVOUS09/29/2015
128CHD7Ex30NM_017780.3:c.5981G>Ap.Trp1994* | p.W1994XLRG_176t1:c.5981G>A, NM_017780.2:c.5981G>A, NM_017780.3:c.5981G>A, XM_005251266.1:c.5981G>A, XM_005251267.1:c.5981G>APathogenic11/02/2020 
129CHD7Ex30NM_017780.3:c.6103+6T>CVOUS09/06/2012
130CHD7Ex30NM_017780.3:c.6103+8C>TNM_017780.2:c.6103+8C>T, NM_017780.3:c.6103+8C>TBenign08/03/2015 
131CHD7Ex31NM_017780.3:c.6111C>Tp.Pro2037= | p.P2037=NM_017780.2:c.6111C>T, NM_017780.3:c.6111C>TBenign02/22/2013 
132CHD7Ex31NM_017780.3:c.6135G>Ap.Pro2045= | p.P2045=NM_017780.2:c.6135G>A, NM_017780.3:c.6135G>A, XM_005251266.1:c.6135G>A, XM_005251267.1:c.6135G>ABenign06/11/2014 
133CHD7Ex31NM_017780.3:c.6148C>Tp.Arg2050* | p.R2050XLRG_176t1:c.6148C>T, NM_017780.2:c.6148C>T, NM_017780.3:c.6148C>T, XM_005251266.1:c.6148C>T, XM_005251267.1:c.6148C>TPathogenic01/23/2018 
134CHD7Ex31NM_017780.3:c.6216C>Gp.Pro2072= | p.P2072=NM_017780.2:c.6216C>G, NM_017780.3:c.6216C>GVOUS05/28/2013
135CHD7Ex31NM_017780.3:c.6247C>Tp.Pro2083Ser | p.P2083SLRG_176t1:c.6247C>T, NM_017780.2:c.6247C>T, NM_017780.3:c.6247C>T, XM_005251266.1:c.6247C>T, XM_005251267.1:c.6247C>TVOUS04/29/2016
136CHD7Ex31NM_017780.3:c.6276G>Ap.Glu2092= | p.E2092=NM_017780.2:c.6276G>A, NM_017780.2:p.(=), NM_017780.2:p.E2092E, NM_017780.3:c.6276G>ABenign08/03/2015 
137CHD7Ex31NM_017780.3:c.6278G>Ap.Cys2093Tyr | p.C2093YNM_017780.2:c.6278G>A, NM_017780.2:p.C2093Y, NM_017780.2:p.Cys2093TyrVOUS**
138CHD7Ex31NM_017780.3:c.6282A>Gp.Gly2094= | p.G2094=NM_017780.2:c.6282A>G, NM_017780.3:c.6282A>GBenign02/11/2015 
139CHD7Ex31NM_017780.3:c.6308G>Ap.Gly2103Asp | p.G2103DNM_017780.2:c.6308G>A, NM_017780.3:c.6308G>A, XM_005251266.1:c.6308G>A, XM_005251267.1:c.6308G>AVOUS09/04/2014
140CHD7Ex31NM_017780.3:c.6437T>Cp.Leu2146Pro | p.L2146PNM_017780.2:c.6437T>C, NM_017780.3:c.6437T>C, XM_005251266.1:c.6437T>C, XM_005251267.1:c.6437T>CVOUS05/14/2014
141CHD7Ex31NM_017780.3:c.6478G>Ap.Ala2160Thr | p.A2160TNM_017780.2:c.6478G>A, NM_017780.2:p.A2160T, NM_017780.2:p.Ala2160Thr, NM_017780.3:c.6478G>ABenign** 
142CHD7Ex31NM_017780.3:c.6513C>Tp.Ala2171= | p.A2171=NM_017780.2:c.6513C>T, NM_017780.3:c.6513C>TVOUS11/07/2013
143CHD7Ex31NM_017780.3:c.6528G>Ap.Glu2176= | p.E2176=NM_017780.2:c.6528G>A, NM_017780.2:p.(=), NM_017780.2:p.E2176E, NM_017780.3:c.6528G>AVOUS**
144CHD7Ex31NM_017780.3:c.6529G>Tp.Glu2177* | p.E2177XLRG_176t1:c.6529G>T, NM_017780.2:c.6529G>T, NM_017780.3:c.6529G>T, XM_005251266.1:c.6529G>T, XM_005251267.1:c.6529G>TPathogenic10/28/2014 
145CHD7Ex31NM_017780.3:c.6571G>Ap.Glu2191Lys | p.E2191KNM_017780.2:c.6571G>A, NM_017780.3:c.6571G>A, XM_005251267.1:c.6571G>AVOUS02/22/2017
146CHD7Ex31NM_017780.3:c.6660T>Gp.Gly2220= | p.G2220=NM_017780.2:c.6660T>G, NM_017780.3:c.6660T>G, XM_005251266.1:c.6660T>G, XM_005251267.1:c.6660T>GLikely benign10/20/2015 
147CHD7Ex31NM_017780.3:c.6682G>Ap.Gly2228Arg | p.G2228RLRG_176t1:c.6682G>A, NM_017780.2:c.6682G>A, NM_017780.3:c.6682G>A, XM_005251266.1:c.6682G>A, XM_005251267.1:c.6682G>AVOUS03/23/2017
148CHD7Ex31NM_017780.3:c.6711C>Tp.Ser2237= | p.S2237=NM_017780.2:c.6711C>T, NM_017780.2:p.(=), NM_017780.2:p.S2237SVOUS04/24/2013
149CHD7Ex31NM_017780.3:c.6738G>Ap.Glu2246= | p.E2246=NM_017780.2:c.6738G>A, NM_017780.2:p.(=), NM_017780.2:p.E2246E, NM_017780.3:c.6738G>ABenign09/26/2013 
150CHD7Ex31NM_017780.3:c.6747T>Ap.Asp2249Glu | p.D2249ENM_017780.2:c.6747T>A, NM_017780.3:c.6747T>A, XM_005251266.1:c.6747T>A, XM_005251267.1:c.6747T>AVOUS03/04/2015
151CHD7Ex31NM_017780.3:c.6771C>Tp.Pro2257= | p.P2257=NM_017780.2:c.6771C>T, NM_017780.3:c.6771C>T, XM_005251266.1:c.6771C>T, XM_005251267.1:c.6771C>TVOUS01/02/2015
152CHD7Ex32NM_017780.3:c.6822T>Cp.Ala2274= | p.A2274=NM_017780.2:c.6822T>C, NM_017780.3:c.6822T>C, XM_005251266.1:c.6822T>C, XM_005251267.1:c.6819T>CVOUS12/30/2014
153CHD7Ex33NM_017780.3:c.6995G>Ap.Trp2332* | p.W2332XNM_017780.2:c.6995G>A, NM_017780.3:c.6995G>A, XM_005251266.1:c.6995G>A, XM_005251267.1:c.6992G>APathogenic06/17/2014 
154CHD7Ex33NM_017780.3:c.7085G>Ap.Ser2362Asn | p.S2362NNM_017780.2:c.7085G>A, NM_017780.3:c.7085G>AVOUS10/16/2013
155CHD7Ex33NM_017780.3:c.7145dupCNM_017780.2:c.7145dup, NM_017780.3:c.7145dupPathogenic01/23/2014 
156CHD7Ex34NM_017780.3:c.7165-5A>GLRG_176t1:c.7165-5A>G, NM_017780.2:c.7165-5A>G, NM_017780.3:c.7165-5A>G, XM_005251266.1:c.7165-5A>G, XM_005251267.1:c.7162-5A>GLikely benign03/18/2016 
157CHD7Ex34NM_017780.3:c.7209G>Ap.Arg2403= | p.R2403=NM_017780.2:c.7209G>A, NM_017780.2:p.(=), NM_017780.2:p.R2403R, NM_017780.3:c.7209G>A, XM_005251266.1:c.7209G>A, XM_005251267.1:c.7206G>ABenign10/28/2014 
158CHD7Ex34NM_017780.3:c.7257T>Cp.Asn2419= | p.N2419=NM_017780.2:c.7257T>C, NM_017780.3:c.7257T>C, XM_005251266.1:c.7257T>C, XM_005251267.1:c.7254T>CVOUS07/30/2015
159CHD7Ex34NM_017780.3:c.7278G>Ap.Gln2426= | p.Q2426=NM_017780.2:c.7278G>A, NM_017780.3:c.7278G>ABenign02/20/2013 
160CHD7Ex34NM_017780.3:c.7282C>Tp.Arg2428* | p.R2428XNM_017780.2:c.7282C>T, NM_017780.2:p.Arg2428*, NM_017780.2:p.R2428*Pathogenic** 
161CHD7Ex34NM_017780.3:c.7313A>Cp.Gln2438Pro | p.Q2438PLRG_176t1:c.7313A>C, NM_017780.2:c.7313A>C, NM_017780.3:c.7313A>C, XM_005251266.1:c.7313A>C, XM_005251267.1:c.7310A>CLikely benign12/19/2016 
162CHD7Ex34NM_017780.3:c.7313A>Gp.Gln2438Arg | p.Q2438RLRG_176t1:c.7313A>G, NM_017780.2:c.7313A>G, NM_017780.3:c.7313A>G, XM_005251266.1:c.7313A>G, XM_005251267.1:c.7310A>GVOUS06/10/2020
163CHD7Ex34NM_017780.3:c.7344_7345delAAp.Glu2450Glyfs*19 | p.E2450GfsX19LRG_176t1:c.7344_7345delAA, NM_017780.2:c.7344_7345delAA, NM_017780.3:c.7344_7345delAA, XM_005251266.1:c.7344_7345delAA, XM_005251267.1:c.7341_7342delAAPathogenic02/27/2019 
164CHD7Ex34NM_017780.3:c.7346G>Cp.Arg2449Thr | p.R2449TVOUS03/03/2014
165CHD7Ex34NM_017780.3:c.7356A>Gp.Thr2452= | p.T2452=NM_017780.2:c.7356A>G, NM_017780.2:p.(=), NM_017780.2:p.T2452T, NM_017780.3:c.7356A>G, XM_005251267.1:c.7353A>GBenign05/22/2014 
166CHD7Ex34NM_017780.3:c.7447G>Ap.Glu2483Lys | p.E2483KVOUS03/15/2013
167CHD7Ex34NM_017780.3:c.7463G>Ap.Gly2488Asp | p.G2488DVOUS02/22/2013
168CHD7Ex34NM_017780.3:c.7579A>Cp.Met2527Leu | p.M2527LBenign03/03/2014 
169CHD7Ex34NM_017780.3:c.7590A>Gp.Lys2530= | p.K2530=NM_017780.2:c.7590A>G, NM_017780.2:p.(=), NM_017780.2:p.K2530KBenign** 
170CHD7Ex34NM_017780.3:c.7595C>Tp.Thr2532Met | p.T2532MNM_017780.2:c.7595C>T, NM_017780.3:c.7595C>T, XM_005251266.1:c.7595C>T, XM_005251267.1:c.7592C>TVOUS04/19/2017
171CHD7Ex35NM_017780.3:c.7641_7651delAGATATAGAGANM_017780.2:c.7641_7651delagatatagaga, NM_017780.3:c.7641_7651delagatatagaga, XM_005251266.1:c.7641_7651delagatatagaga, XM_005251267.1:c.7638_7648delagatatagagaPathogenic07/24/2015 
172CHD7Ex36NM_017780.3:c.7847G>Ap.Leu2616= | p.L2616=NM_017780.2:c.7847G>A, NM_017780.2:p.(=), NM_017780.2:p.L2616LVOUS**
173CHD7Ex36NM_017780.3:c.7848G>Ap.Leu2616= | p.L2616=LRG_176t1:c.7848G>A, NM_017780.2:c.7848G>A, NM_017780.3:c.7848G>A, XM_005251266.1:c.7848G>A, XM_005251267.1:c.7845G>AVOUS08/16/2016
174CHD7Ex36NM_017780.3:c.7879C>Tp.Arg2627* | p.R2627XNM_017780.2:c.7879C>T, NM_017780.2:p.Arg2627*, NM_017780.2:p.R2627*Pathogenic** 
175CHD7Ex37NM_017780.3:c.8047C>Tp.Pro2683Ser | p.P2683SNM_017780.2:c.8047C>T, NM_017780.3:c.8047C>T, XM_005251266.1:c.8047C>T, XM_005251267.1:c.8044C>TLikely benign02/09/2017 
176CHD7Ex37NM_017780.3:c.8049delAp.Asp2684Thrfs*5 | p.D2684TfsX5LRG_176t1:c.8049delA, NM_017780.2:c.8049delA, NM_017780.3:c.8049delA, XM_005251266.1:c.8049delA, XM_005251267.1:c.8046delAPathogenic12/03/2018 
177CHD7Ex37NM_017780.3:c.8076+8C>ALRG_176t1:c.8076+8C>A, NM_017780.2:c.8076+8C>A, NM_017780.3:c.8076+8C>A, XM_005251266.1:c.8076+8C>A, XM_005251267.1:c.8073+8C>AVOUS01/26/2017
178CHD7Ex38NM_017780.3:c.8105G>Ap.Arg2702His | p.R2702HLRG_176t1:c.8105G>A, NM_017780.2:c.8105G>A, NM_017780.3:c.8105G>A, XM_005251266.1:c.8105G>A, XM_005251267.1:c.8102G>AVOUS05/30/2018
179CHD7Ex38NM_017780.3:c.8190G>Ap.Ala2730= | p.A2730=NM_017780.2:c.8190G>A, NM_017780.3:c.8190G>AVOUS01/23/2014
180CHD7Ex38NM_017780.3:c.8193C>Tp.Ala2731= | p.A2731=LRG_176t1:c.8193C>T, NM_017780.2:c.8193C>T, NM_017780.3:c.8193C>T, XM_005251266.1:c.8193C>T, XM_005251267.1:c.8190C>TVOUS01/16/2017
181CHD7Ex38NM_017780.3:c.8366C>Tp.Ala2789Val | p.A2789VNM_017780.2:c.8366C>T, NM_017780.3:c.8366C>T, XM_005251266.1:c.8366C>T, XM_005251267.1:c.8363C>TVOUS07/07/2014
182CHD7Ex38NM_017780.3:c.8416C>Gp.Leu2806Val | p.L2806VNM_017780.2:c.8416C>G, NM_017780.3:c.8416C>GLikely benign04/03/2014 
183CHD7Ex38NM_017780.3:c.8439C>Tp.Gly2813= | p.G2813=NM_017780.2:c.8439C>T, NM_017780.3:c.8439C>TBenign05/28/2013 
184CHD7Ex38NM_017780.3:c.8446T>Cp.Leu2816= | p.L2816=NM_017780.2:c.8446T>C, NM_017780.3:c.8446T>C, XM_005251266.1:c.8446T>C, XM_005251267.1:c.8443T>CVOUS06/12/2014
185CHD7Ex38NM_017780.3:c.8453_8463dupACCCTCTGTCAp.Ala2822Thrfs*71 | p.A2822TfsX71LRG_176t1:c.8453_8463dupACCCTCTGTCA, NM_017780.2:c.8453_8463dupACCCTCTGTCA, NM_017780.2:c.8463_8464insACCCTCTGTCA, NM_017780.3:c.8453_8463dupACCCTCTGTCA, NM_017780.3:c.8463_8464insACCCTCTGTCA, XM_005251266.1:c.8453_8463dupACCCTCTGTCA, XM_005251266.1:c.8463_8464insACCCTCTGTCA, XM_005251267.1:c.8450_8460dupACCCTCTGTCA, XM_005251267.1:c.8460_8461insACCCTCTGTCAPathogenic04/13/2015 
186CHD7Ex38NM_017780.3:c.8556C>Tp.Asp2852= | p.D2852=NM_017780.2:c.8556C>T, NM_017780.3:c.8556C>T, XM_005251266.1:c.8556C>T, XM_005251267.1:c.8553C>TVOUS04/28/2015
187CHD7Ex38NM_017780.3:c.8639C>Tp.Pro2880Leu | p.P2880LNM_017780.2:c.8639C>T, NM_017780.3:c.8639C>TVOUS01/24/2014
188CHD7Ex38NM_017780.3:c.8672A>Cp.Asn2891Thr | p.N2891TNM_017780.2:c.8672A>C, NM_017780.3:c.8672A>CVOUS05/08/2014
189CHD7Ex38NM_017780.3:c.8672A>Gp.Asn2891Ser | p.N2891SNM_017780.2:c.8672A>G, NM_017780.3:c.8672A>G, XM_005251266.1:c.8672A>G, XM_005251267.1:c.8669A>GLikely benign02/27/2018 
190CHD7Ex38NM_017780.3:c.8790C>Tp.Ala2930= | p.A2930=NM_017780.2:c.8790C>T, NM_017780.3:c.8790C>TBenign05/08/2014 
191CHD7Ex38NM_017780.3:c.8821A>Gp.Lys2941Glu | p.K2941ENM_017780.2:c.8821A>G, NM_017780.3:c.8821A>G, XM_005251266.1:c.8821A>G, XM_005251267.1:c.8818A>GVOUS05/15/2015
192CHD7Ex38NM_017780.3:c.8950C>Tp.Leu2984Phe | p.L2984FNM_017780.2:c.8950C>T, NM_017780.3:c.8950C>TBenign07/10/2013 

* 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.