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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  
1OTOGEx1NM_001277269.1:c.94G>Ap.Gly32Ser | p.G32SNM_001277269.1:c.94G>A, NM_005709.2:c.-3159C>T, NM_005709.3:c.-3159C>T, NM_153676.2:c.-3159C>T, NM_153676.3:c.-3159C>T, XM_002343051.1:c.94G>A, XM_005252725.1:c.-3159C>T, XM_005252726.1:c.-3159C>T, XM_291816.7:c.-714G>A, XM_291816.8:c.94G>AVOUS03/27/2017
2OTOGEx2NM_001277269.1:c.209C>Tp.Ala70Val | p.A70VNM_001277269.1:c.209C>T, NM_005709.2:c.-3862G>A, NM_005709.3:c.-3862G>A, NM_153676.2:c.-3862G>A, NM_153676.3:c.-3862G>A, XM_002343051.1:c.209C>T, XM_005252725.1:c.-3862G>A, XM_005252726.1:c.-3862G>A, XM_291816.7:c.-11C>T, XM_291816.8:c.209C>TVOUS03/14/2019
3OTOGEx5NM_001277269.1:c.486A>Gp.Thr162= | p.T162=NM_001277269.1:c.486A>G, XM_002343051.1:c.483A>G, XM_291816.7:c.267A>G, XM_291816.8:c.486A>GVOUS11/28/2017
4OTOGEx6NM_001277269.1:c.639_641delCTTp.Phe214del | p.F214delNM_001277269.1:c.639_641delCTT, XM_002343051.1:c.636_638delCTT, XM_291816.7:c.420_422delCTT, XM_291816.8:c.639_641delCTTVOUS03/27/2018
5OTOGEx6NM_001277269.1:c.675G>Tp.Glu225Asp | p.E225DNM_001277269.1:c.675G>T, XM_002343051.1:c.672G>T, XM_291816.7:c.456G>T, XM_291816.8:c.675G>TBenign03/14/2019 
6OTOGEx8NM_001277269.1:c.973C>Ap.Pro325Thr | p.P325TNM_001277269.1:c.973C>A, XM_002343051.1:c.970C>A, XM_291816.7:c.754C>A, XM_291816.8:c.973C>AVOUS03/31/2017
7OTOGEx11NM_001277269.1:c.1321C>Tp.Arg441Trp | p.R441WNM_001277269.1:c.1321C>T, XM_002343051.1:c.1318C>T, XM_291816.7:c.1102C>T, XM_291816.8:c.1321C>TLikely benign05/04/2017 
8OTOGEx14NM_001277269.1:c.1651G>Ap.Val551Met | p.V551MNM_001277269.1:c.1651G>A, XM_002343051.1:c.1648G>A, XM_291816.7:c.1432G>A, XM_291816.8:c.1651G>AVOUS03/15/2019
9OTOGEx16NM_001277269.1:c.1842C>Tp.Ser614= | p.S614=NM_001277269.1:c.1842C>T, XM_002343051.1:c.1839C>T, XM_291816.7:c.1623C>T, XM_291816.8:c.1842C>TVOUS03/15/2019
10OTOGEx19NM_001277269.1:c.2421G>Tp.Gly807= | p.G807=NM_001277269.1:c.2421G>T, XM_002343051.1:c.2418G>T, XM_003118637.1:c.-3737G>T, XM_005252894.1:c.-3737G>T, XM_291816.7:c.2202G>T, XM_291816.8:c.2421G>TVOUS02/22/2017
11OTOGEx19NM_001277269.1:c.2434G>Ap.Asp812Asn | p.D812NNM_001277269.1:c.2434G>A, XM_002343051.1:c.2431G>A, XM_003118637.1:c.-3724G>A, XM_005252894.1:c.-3724G>A, XM_291816.7:c.2215G>A, XM_291816.8:c.2434G>ALikely benign07/25/2017 
12OTOGEx22NM_001277269.1:c.2693C>Tp.Thr898Met | p.T898MNM_001277269.1:c.2693C>T, XM_002343051.1:c.2690C>T, XM_003118637.1:c.-124C>T, XM_005252894.1:c.-124C>T, XM_291816.7:c.2474C>T, XM_291816.8:c.2693C>TVOUS03/31/2017
13OTOGEx24NM_001277269.1:c.2904-3C>TNM_001277269.1:c.2904-3C>T, XM_002343051.1:c.2901-3C>T, XM_003118637.1:c.88-1746C>T, XM_005252894.1:c.88-1746C>T, XM_291816.7:c.2685-3C>T, XM_291816.8:c.2904-3C>TVOUS09/11/2018
14OTOGEx24NM_001277269.1:c.2907G>Ap.Val969= | p.V969=NM_001277269.1:c.2907G>A, XM_002343051.1:c.2904G>A, XM_003118637.1:c.88-1740G>A, XM_005252894.1:c.88-1740G>A, XM_291816.7:c.2688G>A, XM_291816.8:c.2907G>AVOUS02/22/2017
15OTOGEx29NM_001277269.1:c.3718+1G>ALikely pathogenic12/23/2019 
16OTOGEx30NM_001277269.1:c.3719C>Tp.Pro1240Leu | p.P1240LNM_001277269.1:c.3719C>T, XM_002343051.1:c.3716C>T, XM_003118637.1:c.764-2539C>T, XM_005252894.1:c.764-2539C>T, XM_291816.7:c.3500C>T, XM_291816.8:c.3719C>TLikely benign01/22/2019 
17OTOGEx31NM_001277269.1:c.3913G>Cp.Asp1305His | p.D1305HNM_001277269.1:c.3913G>C, XM_002343051.1:c.3910G>C, XM_003118637.1:c.931G>C, XM_005252894.1:c.931G>C, XM_291816.7:c.3694G>C, XM_291816.8:c.3913G>CVOUS05/07/2019
18OTOGEx32NM_001277269.1:c.4049G>Ap.Arg1350Gln | p.R1350QNM_001277269.1:c.4049G>A, XM_002343051.1:c.4046G>A, XM_003118637.1:c.1067G>A, XM_005252894.1:c.1067G>A, XM_291816.7:c.3830G>A, XM_291816.8:c.4049G>AVOUS04/03/2017
19OTOGEx32NM_001277269.1:c.4058G>Ap.Arg1353Gln | p.R1353QNM_001277269.1:c.4058G>A, XM_002343051.1:c.4055G>A, XM_003118637.1:c.1076G>A, XM_005252894.1:c.1076G>A, XM_291816.7:c.3839G>A, XM_291816.8:c.4058G>AVOUS01/15/2019
20OTOGEx32NM_001277269.1:c.4123G>Cp.Ala1375Pro | p.A1375PNM_001277269.1:c.4123G>C, XM_002343051.1:c.4120G>C, XM_003118637.1:c.1141G>C, XM_005252894.1:c.1141G>C, XM_291816.7:c.3904G>C, XM_291816.8:c.4123G>CBenign01/23/2017 
21OTOGEx32NM_001277269.1:c.4168C>Tp.Arg1390Trp | p.R1390WNM_001277269.1:c.4168C>T, XM_002343051.1:c.4165C>T, XM_003118637.1:c.1186C>T, XM_005252894.1:c.1186C>T, XM_291816.7:c.3949C>T, XM_291816.8:c.4168C>TVOUS01/04/2019
22OTOGEx35NM_001277269.1:c.4663G>Ap.Ala1555Thr | p.A1555TNM_001277269.1:c.4663G>A, XM_002343051.1:c.4660G>A, XM_003118637.1:c.1681G>A, XM_005252894.1:c.1681G>A, XM_291816.7:c.4444G>A, XM_291816.8:c.4663G>ALikely benign03/23/2018 
23OTOGEx35NM_001277269.1:c.4762A>Gp.Thr1588Ala | p.T1588ANM_001277269.1:c.4762A>G, XM_002343051.1:c.4759A>G, XM_003118637.1:c.1780A>G, XM_005252894.1:c.1780A>G, XM_291816.7:c.4543A>G, XM_291816.8:c.4762A>GVOUS08/17/2018
24OTOGEx35NM_001277269.1:c.4871G>Ap.Arg1624His | p.R1624HNM_001277269.1:c.4871G>A, XM_002343051.1:c.4868G>A, XM_003118637.1:c.1889G>A, XM_005252894.1:c.1889G>A, XM_291816.7:c.4652G>A, XM_291816.8:c.4871G>AVOUS09/23/2020
25OTOGEx35NM_001277269.1:c.5271C>Ap.Leu1757= | p.L1757=NM_001277269.1:c.5271C>A, XM_002343051.1:c.5268C>A, XM_003118637.1:c.2289C>A, XM_005252894.1:c.2289C>A, XM_291816.7:c.5052C>A, XM_291816.8:c.5271C>ABenign01/19/2017 
26OTOGEx35NM_001277269.1:c.5381T>Cp.Leu1794Pro | p.L1794PNM_001277269.1:c.5381T>C, XM_002343051.1:c.5378T>C, XM_003118637.1:c.2399T>C, XM_005252894.1:c.2399T>C, XM_291816.7:c.5162T>C, XM_291816.8:c.5381T>CLikely benign12/11/2018 
27OTOGEx35NM_001277269.1:c.5730A>Gp.Val1910= | p.V1910=Benign04/03/2019 
28OTOGEx35NM_001277269.1:c.6104G>Ap.Gly2035Asp | p.G2035DNM_001277269.1:c.6104G>A, XM_002343051.1:c.6101G>A, XM_003118637.1:c.3122G>A, XM_005252894.1:c.3122G>A, XM_291816.7:c.5885G>A, XM_291816.8:c.6104G>AVOUS04/03/2019
29OTOGEx35NM_001277269.1:c.6110C>Tp.Ala2037Val | p.A2037VNM_001277269.1:c.6110C>T, XM_002343051.1:c.6107C>T, XM_003118637.1:c.3128C>T, XM_005252894.1:c.3128C>T, XM_291816.7:c.5891C>T, XM_291816.8:c.6110C>TLikely benign09/11/2018 
30OTOGEx36NM_001277269.1:c.6217G>Ap.Val2073Met | p.V2073MNM_001277269.1:c.6217G>A, XM_002343051.1:c.6214G>A, XM_003118637.1:c.3235G>A, XM_005252894.1:c.3235G>A, XM_291816.7:c.5998G>A, XM_291816.8:c.6217G>AVOUS05/28/2017
31OTOGEx36NM_001277269.1:c.6285G>Tp.Val2095= | p.V2095=NM_001277269.1:c.6285G>T, XM_002343051.1:c.6282G>T, XM_003118637.1:c.3303G>T, XM_005252894.1:c.3303G>T, XM_291816.7:c.6066G>T, XM_291816.8:c.6285G>TVOUS07/20/2017
32OTOGEx37NM_001277269.1:c.6441C>Tp.Thr2147= | p.T2147=NM_001277269.1:c.6441C>T, XM_002343051.1:c.6438C>T, XM_003118637.1:c.3459C>T, XM_005252894.1:c.3459C>T, XM_291816.7:c.6222C>T, XM_291816.8:c.6441C>TVOUS06/26/2018
33OTOGEx39NM_001277269.1:c.6611G>Tp.Gly2204Val | p.G2204VNM_001277269.1:c.6611G>T, XM_002343051.1:c.6608G>T, XM_003118637.1:c.3629G>T, XM_005252894.1:c.3629G>T, XM_291816.7:c.6392G>T, XM_291816.8:c.6611G>TVOUS09/01/2017
34OTOGEx39NM_001277269.1:c.6703G>Ap.Val2235Met | p.V2235MNM_001277269.1:c.6703G>A, XM_002343051.1:c.6700G>A, XM_003118637.1:c.3721G>A, XM_005252894.1:c.3721G>A, XM_291816.7:c.6484G>A, XM_291816.8:c.6703G>AVOUS12/08/2016
35OTOGEx39NM_001277269.1:c.6715A>Gp.Lys2239Glu | p.K2239ENM_001277269.1:c.6715A>G, XM_002343051.1:c.6712A>G, XM_003118637.1:c.3733A>G, XM_005252894.1:c.3733A>G, XM_291816.7:c.6496A>G, XM_291816.8:c.6715A>GVOUS05/22/2017
36OTOGEx40NM_001277269.1:c.6816G>Ap.Glu2272= | p.E2272=NM_001277269.1:c.6816G>A, XM_002343051.1:c.6813G>A, XM_003118637.1:c.3834G>A, XM_005252894.1:c.3834G>A, XM_291816.7:c.6597G>A, XM_291816.8:c.6816G>AVOUS07/31/2017
37OTOGEx40NM_001277269.1:c.6863C>Tp.Thr2288Ile | p.T2288INM_001277269.1:c.6863C>T, XM_002343051.1:c.6860C>T, XM_003118637.1:c.3881C>T, XM_005252894.1:c.3881C>T, XM_291816.7:c.6644C>T, XM_291816.8:c.6863C>TVOUS10/15/2019
38OTOGEx40NM_001277269.1:c.6929G>Ap.Arg2310His | p.R2310HNM_001277269.1:c.6929G>A, XM_002343051.1:c.6926G>A, XM_003118637.1:c.3947G>A, XM_005252894.1:c.3947G>A, XM_291816.7:c.6710G>A, XM_291816.8:c.6929G>AVOUS01/18/2017
39OTOGEx41NM_001277269.1:c.7045G>Cp.Val2349Leu | p.V2349LNM_001277269.1:c.7045G>C, XM_002343051.1:c.7042G>C, XM_003118637.1:c.4063G>C, XM_005252894.1:c.4063G>C, XM_291816.7:c.6826G>C, XM_291816.8:c.7045G>CLikely benign04/03/2019 
40OTOGEx43NM_001277269.1:c.7304-7T>ANM_001277269.1:c.7304-7T>A, XM_002343051.1:c.7301-7T>A, XM_003118637.1:c.4321+188T>A, XM_005252894.1:c.4321+188T>A, XM_291816.7:c.7085-7T>A, XM_291816.8:c.7304-7T>AVOUS01/09/2017
41OTOGEx44NM_001277269.1:c.7517-5_7518dupGCCAGTGNM_001277269.1:c.7517-5_7517-4insGCCAGTG, NM_001277269.1:c.7517-5_7518dupGCCAGTG, XM_002343051.1:c.7514-5_7514-4insGCCAGTG, XM_002343051.1:c.7514-5_7515dupGCCAGTG, XM_003118637.1:c.4322-771_4322-765dupGCCAGTG, XM_003118637.1:c.4322-771_4322-770insGCCAGTG, XM_005252894.1:c.4322-771_4322-765dupGCCAGTG, XM_005252894.1:c.4322-771_4322-770insGCCAGTG, XM_291816.7:c.7298-5_7298-4insGCCAGTG, XM_291816.7:c.7298-5_7299dupGCCAGTG, XM_291816.8:c.7517-5_7517-4insGCCAGTG, XM_291816.8:c.7517-5_7518dupGCCAGTGVOUS05/05/2017
42OTOGEx44NM_001277269.1:c.7546G>Ap.Ala2516Thr | p.A2516TNM_001277269.1:c.7546G>A, XM_002343051.1:c.7543G>A, XM_003118637.1:c.4322-737G>A, XM_005252894.1:c.4322-737G>A, XM_291816.7:c.7327G>A, XM_291816.8:c.7546G>AVOUS01/18/2017
43OTOGEx45NM_001277269.1:c.7667G>Ap.Arg2556Gln | p.R2556QNM_001277269.1:c.7667G>A, XM_002343051.1:c.7664G>A, XM_003118637.1:c.4322-485G>A, XM_005252894.1:c.4322-485G>A, XM_291816.7:c.7448G>A, XM_291816.8:c.7667G>ALikely benign01/20/2017 
44OTOGEx45NM_001277269.1:c.7686C>Tp.Ile2562= | p.I2562=NM_001277269.1:c.7686C>T, XM_002343051.1:c.7683C>T, XM_003118637.1:c.4322-466C>T, XM_005252894.1:c.4322-466C>T, XM_291816.7:c.7467C>T, XM_291816.8:c.7686C>TLikely benign01/19/2017 
45OTOGEx45NM_001277269.1:c.7729+1G>ANM_001277269.1:c.7729+1G>A, XM_002343051.1:c.7726+1G>A, XM_003118637.1:c.4322-422G>A, XM_005252894.1:c.4322-422G>A, XM_291816.7:c.7510+1G>A, XM_291816.8:c.7729+1G>AVOUS02/11/2019
46OTOGEx46NM_001277269.1:c.7778C>Tp.Ala2593Val | p.A2593VNM_001277269.1:c.7778C>T, XM_002343051.1:c.7775C>T, XM_003118637.1:c.4370C>T, XM_005252894.1:c.4370C>T, XM_291816.7:c.7559C>T, XM_291816.8:c.7778C>TVOUS01/12/2018
47OTOGEx47NM_001277269.1:c.7903G>Ap.Asp2635Asn | p.D2635NNM_001277269.1:c.7903G>A, XM_002343051.1:c.7900G>A, XM_003118637.1:c.4495G>A, XM_005252894.1:c.4495G>A, XM_291816.7:c.7684G>A, XM_291816.8:c.7903G>ABenign04/04/2017 
48OTOGEx49NM_001277269.1:c.8031C>Tp.Cys2677= | p.C2677=NM_001277269.1:c.8031C>T, XM_002343051.1:c.8028C>T, XM_003118637.1:c.*2051C>T, XM_005252894.1:c.*2051C>T, XM_291816.7:c.7812C>T, XM_291816.8:c.8031C>TVOUS03/31/2017
49OTOGEx51NM_001277269.1:c.8248C>Tp.Arg2750Trp | p.R2750WNM_001277269.1:c.8248C>T, XM_002343051.1:c.8245C>T, XM_003118637.1:c.*3115C>T, XM_005252894.1:c.*3115C>T, XM_291816.7:c.8029C>T, XM_291816.8:c.8248C>TVOUS06/20/2017
50OTOGEx51NM_001277269.1:c.8331+10C>ANM_001277269.1:c.8331+10C>A, XM_002343051.1:c.8328+10C>A, XM_003118637.1:c.*3208C>A, XM_005252894.1:c.*3208C>A, XM_291816.7:c.8112+10C>A, XM_291816.8:c.8331+10C>AVOUS11/24/2018
51OTOGEx52NM_001277269.1:c.8405G>Ap.Arg2802His | p.R2802HNM_001277269.1:c.8405G>A, XM_002343051.1:c.8402G>A, XM_003118637.1:c.*3447G>A, XM_005252894.1:c.*3447G>A, XM_291816.7:c.8186G>A, XM_291816.8:c.8405G>ALikely benign11/09/2018 
52OTOGEx54NM_001277269.1:c.8574C>Tp.Thr2858= | p.T2858=NM_001277269.1:c.8574C>T, XM_002343051.1:c.8571C>T, XM_291816.7:c.8355C>T, XM_291816.8:c.8574C>TVOUS01/22/2019
53OTOGEx55NM_001277269.1:c.8578-8C>TNM_001277269.1:c.8578-8C>T, XM_002343051.1:c.8575-8C>T, XM_291816.7:c.8359-8C>T, XM_291816.8:c.8578-8C>TLikely benign02/13/2018 
54OTOGEx55NM_001277269.1:c.8698C>Tp.Gln2900* | p.Q2900XNM_001277269.1:c.8698C>T, XM_002343051.1:c.8695C>T, XM_291816.7:c.8479C>T, XM_291816.8:c.8698C>TVOUS04/23/2018
55OTOGLEx1NM_173591.3:c.7C>Ap.Pro3Thr | p.P3TNM_173591.3:c.7C>A, XM_005268802.1:c.58C>AVOUS09/06/2016
56OTOGLEx2NM_173591.3:c.69G>Ap.Ser23= | p.S23=NM_173591.3:c.69G>A, XM_005268802.1:c.120G>AVOUS12/07/2018
57OTOGLEx2NM_173591.3:c.74T>Cp.Ile25Thr | p.I25TNM_173591.3:c.74T>C, XM_005268802.1:c.125T>CVOUS04/02/2019
58OTOGLEx9NM_173591.3:c.833C>Tp.Ser278Leu | p.S278LNM_173591.3:c.833C>T, XM_002343203.1:c.683C>T, XM_005268802.1:c.884C>TVOUS12/20/2017
59OTOGLEx9NM_173591.3:c.853A>Gp.Thr285Ala | p.T285ANM_173591.3:c.853A>G, XM_002343203.1:c.703A>G, XM_005268802.1:c.904A>GVOUS01/10/2019
60OTOGLEx14NM_173591.3:c.1368-3T>CNM_173591.3:c.1368-3T>C, XM_002343203.1:c.1218-3T>C, XM_005268802.1:c.1419-3T>CVOUS05/22/2017
61OTOGLEx16NM_173591.3:c.1561-4G>AVOUS08/22/2019
62OTOGLEx18NM_173591.3:c.1913G>Ap.Trp638* | p.W638XNM_173591.3:c.1913G>A, XM_002343203.1:c.1763G>A, XM_005268802.1:c.1964G>APathogenic12/08/2016 
63OTOGLEx22NM_173591.3:c.2441A>Cp.Gln814Pro | p.Q814PNM_173591.3:c.2441A>C, XM_002343203.1:c.2291A>C, XM_005268802.1:c.2492A>CVOUS09/24/2018
64OTOGLEx27NM_173591.3:c.3042A>Gp.Gln1014= | p.Q1014=NM_173591.3:c.3042A>G, XM_002343203.1:c.2784A>G, XM_005268802.1:c.3093A>GLikely benign05/23/2019 
65OTOGLEx27NM_173591.3:c.3076C>Tp.Gln1026* | p.Q1026XNM_173591.3:c.3076C>T, XM_002343203.1:c.2818C>T, XM_005268802.1:c.3127C>TPathogenic09/05/2016 
66OTOGLEx27NM_173591.3:c.3186+1G>ANM_173591.3:c.3186+1G>A, XM_002343203.1:c.2928+1G>A, XM_005268802.1:c.3237+1G>ALikely pathogenic09/06/2016 
67OTOGLEx27NM_173591.3:c.3186+10C>TNM_173591.3:c.3186+10C>T, XM_002343203.1:c.2928+10C>T, XM_005268802.1:c.3237+10C>TVOUS02/01/2017
68OTOGLEx28NM_173591.3:c.3228T>Cp.Thr1076= | p.T1076=NM_173591.3:c.3228T>C, XM_002343203.1:c.2970T>C, XM_005268802.1:c.3279T>CLikely benign05/23/2019 
69OTOGLEx29NM_173591.3:c.3329T>Cp.Ile1110Thr | p.I1110TNM_173591.3:c.3329T>C, XM_002343203.1:c.3071T>C, XM_005268802.1:c.3380T>CLikely benign05/23/2019 
70OTOGLEx29NM_173591.3:c.3400A>Gp.Ile1134Val | p.I1134VNM_173591.3:c.3400A>G, XM_002343203.1:c.3142A>G, XM_005268802.1:c.3451A>GLikely benign02/22/2017 
71OTOGLEx30NM_173591.3:c.3424-20T>ANM_173591.3:c.3424-20T>A, XM_002343203.1:c.3166-20T>A, XM_005268802.1:c.3475-20T>ABenign05/16/2017 
72OTOGLEx30NM_173591.3:c.3461A>Gp.Asp1154Gly | p.D1154GNM_173591.3:c.3461A>G, XM_002343203.1:c.3203A>G, XM_005268802.1:c.3512A>GVOUS04/03/2017
73OTOGLEx32NM_173591.3:c.3608-2A>GNM_173591.3:c.3608-2A>G, XM_002343203.1:c.3350-2A>G, XM_005268802.1:c.3659-2A>GLikely pathogenic03/01/2017 
74OTOGLEx38NM_173591.3:c.4491C>Tp.Asp1497= | p.D1497=NM_173591.3:c.4491C>T, XM_002343203.1:c.4233C>T, XM_005268802.1:c.4542C>TVOUS04/26/2017
75OTOGLEx38NM_173591.3:c.4541G>Ap.Ser1514Asn | p.S1514NNM_173591.3:c.4541G>A, XM_002343203.1:c.4283G>A, XM_005268802.1:c.4592G>AVOUS03/14/2019
76OTOGLEx40NM_173591.3:c.4719T>Ap.Asn1573Lys | p.N1573KNM_173591.3:c.4719T>A, XM_002343203.1:c.4459-113T>A, XM_005268802.1:c.4770T>AVOUS11/15/2017
77OTOGLEx46NM_173591.3:c.5621G>Ap.Gly1874Asp | p.G1874DNM_173591.3:c.5621G>A, XM_002343203.1:c.5339G>A, XM_005268802.1:c.5672G>AVOUS03/02/2017
78OTOGLEx46NM_173591.3:c.5675T>Cp.Ile1892Thr | p.I1892TNM_173591.3:c.5675T>C, XM_002343203.1:c.5393T>C, XM_005268802.1:c.5726T>CVOUS12/08/2016
79OTOGLEx46NM_173591.3:c.5701A>Tp.Thr1901Ser | p.T1901SNM_173591.3:c.5701A>T, XM_002343203.1:c.5419A>T, XM_005268802.1:c.5752A>TVOUS12/20/2017
80OTOGLEx48NM_173591.3:c.5992+5G>ANM_173591.3:c.5992+5G>A, XM_002343203.1:c.5710+5G>A, XM_005268802.1:c.6043+5G>AVOUS03/01/2017
81OTOGLEx50NM_173591.3:c.6105A>Gp.Pro2035= | p.P2035=NM_173591.3:c.6105A>G, XM_002343203.1:c.5823A>G, XM_005268802.1:c.6156A>GVOUS04/26/2017
82OTOGLEx52NM_173591.3:c.6256A>Gp.Ile2086Val | p.I2086VNM_173591.3:c.6256A>G, XM_002343203.1:c.5974A>G, XM_005268802.1:c.6307A>GLikely benign05/23/2019 
83OTOGLEx55NM_173591.3:c.6599C>Tp.Thr2200Ile | p.T2200INM_173591.3:c.6599C>T, XM_002343203.1:c.6317C>T, XM_005268802.1:c.6650C>TLikely benign05/23/2019 
84OTOGLEx58NM_173591.3:c.6941G>Ap.Arg2314Gln | p.R2314QNM_173591.3:c.6941G>A, XM_002343203.1:c.6659G>A, XM_005268802.1:c.6992G>AVOUS02/25/2020

* 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.