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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  
1USH2AEx2NM_206933.2:c.151A>Gp.Ile51Val | p.I51VNM_007123.5:c.151A>G, NM_206933.2:c.151A>GVOUS03/28/2016
2USH2AEx2NM_206933.2:c.299T>Cp.Leu100Pro | p.L100PNM_007123.5:c.299T>C, NM_206933.2:c.299T>CVOUS05/14/2018
3USH2AEx2NM_206933.2:c.373G>Ap.Ala125Thr | p.A125TNM_007123.5:c.373G>A, NM_206933.2:c.373G>ABenign09/03/2014 
4USH2AEx2NM_206933.2:c.478G>Ap.Gly160Ser | p.G160SNM_007123.5:c.478G>A, NM_206933.2:c.478G>ALikely benign09/03/2014 
5USH2AEx3NM_206933.2:c.586C>Tp.Pro196Ser | p.P196SNM_007123.5:c.586C>T, NM_206933.2:c.586C>TVOUS12/16/2016
6USH2AEx4NM_206933.2:c.653T>Ap.Val218Glu | p.V218ENM_007123.5:c.653T>A, NM_206933.2:c.653T>AVOUS09/24/2015
7USH2AEx4NM_206933.2:c.688G>Ap.Val230Met | p.V230MNM_007123.5:c.688G>A, NM_206933.2:c.688G>ABenign09/22/2014 
8USH2AEx5NM_206933.2:c.792G>Ap.Glu264= | p.E264=NM_007123.5:c.792G>A, NM_206933.2:c.792G>AVOUS03/28/2016
9USH2AEx6NM_206933.2:c.908G>Ap.Arg303His | p.R303HNM_007123.5:c.908G>A, NM_206933.2:c.908G>APathogenic12/01/2015 
10USH2AEx6NM_206933.2:c.920_923dupGCCAp.His308Glnfs*16 | p.H308QfsX16NM_007123.5:c.920_923dupGCCA, NM_007123.5:c.923_924insGCCA, NM_206933.2:c.920_923dupGCCA, NM_206933.2:c.923_924insGCCAPathogenic08/24/2017 
11USH2AEx6NM_206933.2:c.949C>Ap.Arg317= | p.R317=NM_007123.5:c.949C>A, NM_206933.2:c.949C>APathogenic04/01/2016 
12USH2AEx6NM_206933.2:c.956G>Ap.Cys319Tyr | p.C319YNM_007123.5:c.956G>A, NM_206933.2:c.956G>AVOUS05/10/2016
13USH2AEx6NM_206933.2:c.1036A>Cp.Asn346His | p.N346HNM_007123.5:c.1036A>C, NM_206933.2:c.1036A>CPathogenic03/17/2017 
14USH2AEx7NM_206933.2:c.1179A>Gp.Gln393= | p.Q393=NM_007123.5:c.1179A>G, NM_206933.2:c.1179A>GLikely benign06/14/2018 
15USH2AEx7NM_206933.2:c.1181C>Gp.Pro394Arg | p.P394RNM_007123.5:c.1181C>G, NM_206933.2:c.1181C>GVOUS04/15/2019
16USH2AEx7NM_206933.2:c.1184C>Tp.Thr395Met | p.T395MNM_007123.5:c.1184C>T, NM_206933.2:c.1184C>TVOUS04/12/2019
17USH2AEx7NM_206933.2:c.1256G>Tp.Cys419Phe | p.C419FNM_007123.5:c.1256G>T, NM_206933.2:c.1256G>TPathogenic04/21/2016 
18USH2AEx8NM_206933.2:c.1345C>Tp.Arg449Cys | p.R449CNM_007123.5:c.1345C>T, NM_206933.2:c.1345C>TVOUS09/19/2019
19USH2AEx8NM_206933.2:c.1412A>Gp.Tyr471Cys | p.Y471CNM_007123.5:c.1412A>G, NM_206933.2:c.1412A>GVOUS02/12/2015
20USH2AEx8NM_206933.2:c.1434G>Cp.Glu478Asp | p.E478DNM_007123.5:c.1434G>C, NM_206933.2:c.1434G>CBenign09/22/2014 
21USH2AEx8NM_206933.2:c.1438G>Ap.Val480Ile | p.V480INM_007123.5:c.1438G>A, NM_206933.2:c.1438G>AVOUS02/05/2016
22USH2AEx8NM_206933.2:c.1486A>Cp.Thr496Pro | p.T496PNM_007123.5:c.1486A>C, NM_206933.2:c.1486A>CVOUS11/21/2016
23USH2AEx8NM_206933.2:c.1510C>Ap.His504Asn | p.H504NNM_007123.5:c.1510C>A, NM_206933.2:c.1510C>AVOUS02/25/2015
24USH2AEx8NM_206933.2:c.1522G>Ap.Ala508Thr | p.A508TNM_007123.5:c.1522G>A, NM_206933.2:c.1522G>AVOUS11/11/2016
25USH2AEx9NM_206933.2:c.1590A>Tp.Thr530= | p.T530=NM_007123.5:c.1590A>T, NM_206933.2:c.1590A>TVOUS11/21/2016
26USH2AEx10NM_206933.2:c.1663C>Gp.Leu555Val | p.L555VNM_007123.5:c.1663C>G, NM_206933.2:c.1663C>GLikely benign05/10/2016 
27USH2AEx10NM_206933.2:c.1679delCNM_007123.5:c.1679delC, NM_206933.2:c.1679delCPathogenic02/17/2016 
28USH2AEx10NM_206933.2:c.1813T>Cp.Cys605Arg | p.C605RNM_007123.5:c.1813T>C, NM_206933.2:c.1813T>CVOUS12/17/2015
29USH2AEx10NM_206933.2:c.1840+4A>GNM_007123.5:c.1840+4A>G, NM_206933.2:c.1840+4A>GVOUS11/02/2015
30USH2AEx11NM_206933.2:c.1876C>Tp.Arg626* | p.R626XNM_007123.5:c.1876C>T, NM_206933.2:c.1876C>TPathogenic10/04/2016 
31USH2AEx11NM_206933.2:c.1891G>Ap.Asp631Asn | p.D631NNM_007123.5:c.1891G>A, NM_206933.2:c.1891G>AVOUS07/31/2017
32USH2AEx11NM_206933.2:c.1961T>Cp.Leu654Pro | p.L654PNM_007123.5:c.1961T>C, NM_206933.2:c.1961T>CVOUS10/22/2018
33USH2AEx12NM_206933.2:c.2052A>Gp.Gln684= | p.Q684=NM_007123.5:c.2052A>G, NM_206933.2:c.2052A>GLikely benign10/27/2016 
34USH2AEx12NM_206933.2:c.2081G>Ap.Cys694Tyr | p.C694YNM_007123.5:c.2081G>A, NM_206933.2:c.2081G>ALikely pathogenic04/07/2021 
35USH2AEx12NM_206933.2:c.2094C>Tp.Thr698= | p.T698=NM_007123.5:c.2094C>T, NM_206933.2:c.2094C>TLikely benign11/03/2016 
36USH2AEx12NM_206933.2:c.2137G>Cp.Gly713Arg | p.G713RNM_007123.5:c.2137G>C, NM_206933.2:c.2137G>CBenign06/18/2014 
37USH2AEx13NM_206933.2:c.2209C>Tp.Arg737* | p.R737XNM_007123.5:c.2209C>T, NM_206933.2:c.2209C>TPathogenic10/01/2015 
38USH2AEx13NM_206933.2:c.2256T>Cp.His752= | p.H752=NM_007123.5:c.2256T>C, NM_206933.2:c.2256T>CLikely benign04/07/2015 
39USH2AEx13NM_206933.2:c.2276G>Tp.Cys759Phe | p.C759FNM_007123.5:c.2276G>T, NM_206933.2:c.2276G>TPathogenic10/05/2017 
40USH2AEx13NM_206933.2:c.2299delGp.Glu767Serfs*21 | p.E767SfsX21NM_007123.5:c.2299delG, NM_206933.2:c.2299delGPathogenic10/14/2016 
41USH2AEx13NM_206933.2:c.2459A>Gp.Asn820Ser | p.N820SNM_007123.5:c.2459A>G, NM_206933.2:c.2459A>GVOUS04/04/2016
42USH2AEx13NM_206933.2:c.2510G>Ap.Arg837Gln | p.R837QNM_007123.5:c.2510G>A, NM_206933.2:c.2510G>ABenign02/27/2017 
43USH2AEx13NM_206933.2:c.2522C>Ap.Ser841Tyr | p.S841YNM_007123.5:c.2522C>A, NM_206933.2:c.2522C>ABenign12/17/2014 
44USH2AEx13NM_206933.2:c.2546G>Ap.Cys849Tyr | p.C849YNM_007123.5:c.2546G>A, NM_206933.2:c.2546G>ABenign07/12/2016 
45USH2AEx13NM_206933.2:c.2802T>Gp.Cys934Trp | p.C934WNM_007123.5:c.2802T>G, NM_206933.2:c.2802T>GPathogenic01/19/2017 
46USH2AEx14NM_206933.2:c.2835C>Tp.Ala945= | p.A945=NM_007123.5:c.2835C>T, NM_206933.2:c.2835C>TVOUS01/23/2017
47USH2AEx14NM_206933.2:c.2888G>Ap.Cys963Tyr | p.C963YNM_007123.5:c.2888G>A, NM_206933.2:c.2888G>AVOUS11/02/2018
48USH2AEx14NM_206933.2:c.2992A>Gp.Arg998Gly | p.R998GNM_007123.5:c.2992A>G, NM_206933.2:c.2992A>GVOUS11/24/2014
49USH2AEx15NM_206933.2:c.3086delGNM_007123.5:c.3086delG, NM_206933.2:c.3086delGPathogenic07/19/2016 
50USH2AEx15NM_206933.2:c.3123C>Ap.His1041Gln | p.H1041QNM_007123.5:c.3123C>A, NM_206933.2:c.3123C>AVOUS09/28/2017
51USH2AEx16NM_206933.2:c.3169C>Gp.Gln1057Glu | p.Q1057ENM_007123.5:c.3169C>G, NM_206933.2:c.3169C>GVOUS07/24/2017
52USH2AEx16NM_206933.2:c.3187_3188delCANM_007123.5:c.3187_3188delCA, NM_206933.2:c.3187_3188delCAPathogenic04/01/2016 
53USH2AEx16NM_206933.2:c.3296_3297delCAp.Thr1099Argfs*27 | p.T1099RfsX27NM_007123.5:c.3296_3297delCA, NM_206933.2:c.3296_3297delCAPathogenic08/01/2018 
54USH2AEx16NM_206933.2:c.3316+6T>CNM_007123.5:c.3316+6T>C, NM_206933.2:c.3316+6T>CVOUS09/22/2015
55USH2AEx17NM_206933.2:c.3317-8C>ANM_007123.5:c.3317-8C>A, NM_206933.2:c.3317-8C>AVOUS09/20/2016
56USH2AEx17NM_206933.2:c.3395G>Ap.Gly1132Asp | p.G1132DNM_007123.5:c.3395G>A, NM_206933.2:c.3395G>ALikely benign11/07/2017 
57USH2AEx17NM_206933.2:c.3489C>Tp.Asp1163= | p.D1163=NM_007123.5:c.3489C>T, NM_206933.2:c.3489C>TVOUS01/20/2015
58USH2AEx17NM_206933.2:c.3581C>Tp.Pro1194Leu | p.P1194LNM_007123.5:c.3581C>T, NM_206933.2:c.3581C>TVOUS04/02/2019
59USH2AEx17NM_206933.2:c.3621C>Tp.Ile1207= | p.I1207=NM_007123.5:c.3621C>T, NM_206933.2:c.3621C>TBenign04/15/2016 
60USH2AEx17NM_206933.2:c.3648C>Tp.Tyr1216= | p.Y1216=NM_007123.5:c.3648C>T, NM_206933.2:c.3648C>TLikely benign12/07/2018 
61USH2AEx18NM_206933.2:c.3861A>Gp.Lys1287= | p.K1287=NM_007123.5:c.3861A>G, NM_206933.2:c.3861A>GVOUS05/15/2015
62USH2AEx18NM_206933.2:c.3883C>Tp.Arg1295* | p.R1295XNM_007123.5:c.3883C>T, NM_206933.2:c.3883C>TPathogenic04/26/2019 
63USH2AEx18NM_206933.2:c.3887T>Cp.Val1296Ala | p.V1296ANM_007123.5:c.3887T>C, NM_206933.2:c.3887T>CVOUS11/21/2016
64USH2AEx18NM_206933.2:c.4016T>Gp.Val1339Gly | p.V1339GNM_007123.5:c.4016T>G, NM_206933.2:c.4016T>GVOUS07/11/2018
65USH2AEx18NM_206933.2:c.4071G>Ap.Thr1357= | p.T1357=NM_007123.5:c.4071G>A, NM_206933.2:c.4071G>AVOUS11/28/2017
66USH2AEx19NM_206933.2:c.4106C>Tp.Ser1369Leu | p.S1369LNM_007123.5:c.4106C>T, NM_206933.2:c.4106C>TVOUS11/08/2016
67USH2AEx19NM_206933.2:c.4136A>Gp.Asn1379Ser | p.N1379SNM_007123.5:c.4136A>G, NM_206933.2:c.4136A>GVOUS01/25/2017
68USH2AEx20NM_206933.2:c.4282T>Cp.Ser1428Pro | p.S1428PNM_007123.5:c.4282T>C, NM_206933.2:c.4282T>CVOUS05/26/2016
69USH2AEx20NM_206933.2:c.4383A>Gp.Gln1461= | p.Q1461=NM_007123.5:c.4383A>G, NM_206933.2:c.4383A>GVOUS09/11/2018
70USH2AEx21NM_206933.2:c.4490C>Tp.Ser1497Phe | p.S1497FNM_007123.5:c.4490C>T, NM_206933.2:c.4490C>TVOUS04/16/2018
71USH2AEx21NM_206933.2:c.4510dupANM_007123.5:c.4510_4511insA, NM_206933.2:c.4510_4511insAPathogenic12/01/2015 
72USH2AEx21NM_206933.2:c.4527A>Gp.Leu1509= | p.L1509=NM_007123.5:c.4527A>G, NM_206933.2:c.4527A>GVOUS01/08/2019
73USH2AEx21NM_206933.2:c.4560C>Tp.Ile1520= | p.I1520=NM_007123.5:c.4560C>T, NM_206933.2:c.4560C>TVOUS07/10/2015
74USH2AEx21NM_206933.2:c.4578G>Tp.Gly1526= | p.G1526=NM_007123.5:c.4578G>T, NM_206933.2:c.4578G>TVOUS03/21/2016
75USH2AEx21NM_206933.2:c.4586A>Tp.Lys1529Ile | p.K1529INM_007123.5:c.4586A>T, NM_206933.2:c.4586A>TLikely benign03/28/2016 
76USH2AEx22NM_206933.2:c.4714C>Tp.Leu1572Phe | p.L1572FNM_206933.2:c.4714C>TBenign11/22/2014 
77USH2AEx22NM_206933.2:c.4758+3A>GNM_206933.2:c.4758+3A>GLikely benign08/23/2017 
78USH2AEx23NM_206933.2:c.4796G>Ap.Gly1599Asp | p.G1599DNM_206933.2:c.4796G>AVOUS02/15/2017
79USH2AEx23NM_206933.2:c.4803A>Tp.Gln1601His | p.Q1601HNM_206933.2:c.4803A>TVOUS08/16/2016
80USH2AEx23NM_206933.2:c.4882A>Tp.Thr1628Ser | p.T1628SNM_206933.2:c.4882A>TVOUS12/12/2014
81USH2AEx24NM_206933.2:c.4902_4908delGAATGGTinsTCp.Asn1635Glnfs*7 | p.N1635QfsX7NM_206933.2:c.4902_4908delinsTCPathogenic09/26/2017 
82USH2AEx24NM_206933.2:c.4943T>Cp.Leu1648Pro | p.L1648PNM_206933.2:c.4943T>CVOUS09/25/2017
83USH2AEx25NM_206933.2:c.5012G>Ap.Gly1671Asp | p.G1671DNM_206933.2:c.5012G>AVOUS11/12/2015
84USH2AEx25NM_206933.2:c.5013C>Ap.Gly1671= | p.G1671=NM_206933.2:c.5013C>ABenign05/06/2015 
85USH2AEx25NM_206933.2:c.5039A>Gp.Lys1680Arg | p.K1680RNM_206933.2:c.5039A>GVOUS01/22/2015
86USH2AEx25NM_206933.2:c.5048A>Gp.Asn1683Ser | p.N1683SNM_206933.2:c.5048A>GVOUS04/25/2014
87USH2AEx25NM_206933.2:c.5111A>Tp.Asn1704Ile | p.N1704INM_206933.2:c.5111A>TVOUS05/24/2016
88USH2AEx25NM_206933.2:c.5118G>Ap.Trp1706* | p.W1706XNM_206933.2:c.5118G>APathogenic02/09/2017 
89USH2AEx25NM_206933.2:c.5167+1G>TNM_206933.2:c.5167+1G>TPathogenic05/06/2015 
90USH2AEx26NM_206933.2:c.5265C>Tp.Phe1755= | p.F1755=NM_206933.2:c.5265C>TVOUS02/15/2017
91USH2AEx27NM_206933.2:c.5359G>Ap.Val1787Met | p.V1787MNM_206933.2:c.5359G>AVOUS11/30/2017
92USH2AEx27NM_206933.2:c.5410A>Gp.Ile1804Val | p.I1804VNM_206933.2:c.5410A>GVOUS02/11/2016
93USH2AEx28NM_206933.2:c.5612G>Ap.Gly1871Asp | p.G1871DNM_206933.2:c.5612G>AVOUS08/25/2016
94USH2AEx28NM_206933.2:c.5619C>Tp.Val1873= | p.V1873=NM_206933.2:c.5619C>TVOUS07/12/2016
95USH2AEx29NM_206933.2:c.5802G>Ap.Ser1934= | p.S1934=NM_206933.2:c.5802G>AVOUS12/29/2016
96USH2AEx29NM_206933.2:c.5829T>Cp.Asp1943= | p.D1943=NM_206933.2:c.5829T>CVOUS11/02/2018
97USH2AEx30NM_206933.2:c.5858C>Gp.Ala1953Gly | p.A1953GNM_206933.2:c.5858C>GVOUS01/03/2017
98USH2AEx30NM_206933.2:c.5877delTNM_206933.2:c.5877delTPathogenic10/04/2016 
99USH2AEx30NM_206933.2:c.5932C>Tp.Pro1978Ser | p.P1978SNM_206933.2:c.5932C>TLikely benign05/03/2016 
100USH2AEx30NM_206933.2:c.5953G>Ap.Glu1985Lys | p.E1985KNM_206933.2:c.5953G>AVOUS12/04/2017
101USH2AEx30NM_206933.2:c.5975A>Gp.Tyr1992Cys | p.Y1992CNM_206933.2:c.5975A>GLikely benign07/31/2017 
102USH2AEx30NM_206933.2:c.6001C>Tp.Arg2001Cys | p.R2001CNM_206933.2:c.6001C>TLikely benign02/18/2019 
103USH2AEx31NM_206933.2:c.6094C>Tp.Leu2032= | p.L2032=NM_206933.2:c.6094C>TVOUS02/13/2018
104USH2AEx31NM_206933.2:c.6118T>Gp.Cys2040Gly | p.C2040GNM_206933.2:c.6118T>GVOUS03/16/2016
105USH2AEx31NM_206933.2:c.6134A>Gp.His2045Arg | p.H2045RNM_206933.2:c.6134A>GVOUS12/20/2016
106USH2AEx31NM_206933.2:c.6159delANM_206933.2:c.6159delAPathogenic10/26/2016 
107USH2AEx32NM_206933.2:c.6175G>Ap.Val2059Ile | p.V2059INM_206933.2:c.6175G>AVOUS01/03/2017
108USH2AEx32NM_206933.2:c.6225G>Cp.Trp2075Cys | p.W2075CNM_206933.2:c.6225G>CVOUS01/31/2017
109USH2AEx32NM_206933.2:c.6236A>Cp.Lys2079Thr | p.K2079TNM_206933.2:c.6236A>CBenign02/27/2017 
110USH2AEx32NM_206933.2:c.6240G>Tp.Lys2080Asn | p.K2080NNM_206933.2:c.6240G>TBenign01/05/2017 
111USH2AEx32NM_206933.2:c.6257C>Ap.Thr2086Asn | p.T2086NNM_206933.2:c.6257C>ABenign01/27/2015 
112USH2AEx32NM_206933.2:c.6270A>Gp.Leu2090= | p.L2090=NM_206933.2:c.6270A>GBenign02/16/2015 
113USH2AEx32NM_206933.2:c.6317T>Cp.Ile2106Thr | p.I2106TNM_206933.2:c.6317T>CBenign03/06/2013 
114USH2AEx33NM_206933.2:c.6364G>Tp.Ala2122Ser | p.A2122SNM_206933.2:c.6364G>TVOUS04/12/2017
115USH2AEx34NM_206933.2:c.6506T>Cp.Ile2169Thr | p.I2169TNM_206933.2:c.6506T>CBenign06/26/2014 
116USH2AEx34NM_206933.2:c.6510T>Gp.Ser2170Arg | p.S2170RNM_206933.2:c.6510T>GBenign07/14/2016 
117USH2AEx34NM_206933.2:c.6581A>Gp.Tyr2194Cys | p.Y2194CNM_206933.2:c.6581A>GVOUS11/17/2016
118USH2AEx34NM_206933.2:c.6587G>Cp.Ser2196Thr | p.S2196TNM_206933.2:c.6587G>CBenign02/06/2015 
119USH2AEx34NM_206933.2:c.6601C>Tp.Gln2201* | p.Q2201XNM_206933.2:c.6601C>TPathogenic06/26/2014 
120USH2AEx34NM_206933.2:c.6602A>Tp.Gln2201Leu | p.Q2201LNM_206933.2:c.6602A>TVOUS09/14/2015
121USH2AEx34NM_206933.2:c.6618A>Gp.Gln2206= | p.Q2206=NM_206933.2:c.6618A>GVOUS10/26/2015
122USH2AEx35NM_206933.2:c.6670G>Tp.Gly2224Cys | p.G2224CNM_206933.2:c.6670G>TVOUS04/03/2019
123USH2AEx35NM_206933.2:c.6711C>Ap.Asp2237Glu | p.D2237ENM_206933.2:c.6711C>AVOUS09/20/2017
124USH2AEx35NM_206933.2:c.6713A>Cp.Glu2238Ala | p.E2238ANM_206933.2:c.6713A>CBenign01/23/2015 
125USH2AEx36NM_206933.2:c.6862G>Tp.Glu2288* | p.E2288XNM_206933.2:c.6862G>TPathogenic08/27/2013 
126USH2AEx37NM_206933.2:c.6958-10A>GNM_206933.2:c.6958-10A>GVOUS04/25/2014
127USH2AEx37NM_206933.2:c.6988G>Ap.Glu2330Lys | p.E2330KNM_206933.2:c.6988G>AVOUS12/01/2017
128USH2AEx37NM_206933.2:c.7038C>Tp.His2346= | p.H2346=NM_206933.2:c.7038C>TVOUS04/05/2016
129USH2AEx37NM_206933.2:c.7039G>Ap.Val2347Met | p.V2347MNM_206933.2:c.7039G>AVOUS12/02/2016
130USH2AEx37NM_206933.2:c.7051G>Ap.Ala2351Thr | p.A2351TNM_206933.2:c.7051G>AVOUS06/24/2015
131USH2AEx38NM_206933.2:c.7130A>Gp.Asn2377Ser | p.N2377SNM_206933.2:c.7130A>GBenign12/19/2014 
132USH2AEx38NM_206933.2:c.7168G>Ap.Gly2390Arg | p.G2390RNM_206933.2:c.7168G>AVOUS03/28/2017
133USH2AEx38NM_206933.2:c.7206G>Ap.Leu2402= | p.L2402=NM_206933.2:c.7206G>AVOUS08/21/2017
134USH2AEx39NM_206933.2:c.7301-6C>TNM_206933.2:c.7301-6C>TVOUS05/26/2015
135USH2AEx40NM_206933.2:c.7475C>Tp.Ser2492Leu | p.S2492LNM_206933.2:c.7475C>TVOUS03/16/2016
136USH2AEx40NM_206933.2:c.7506G>Ap.Pro2502= | p.P2502=NM_206933.2:c.7506G>ABenign04/05/2013 
137USH2AEx40NM_206933.2:c.7527G>Tp.Arg2509= | p.R2509=NM_206933.2:c.7527G>TVOUS03/30/2015
138USH2AEx40NM_206933.2:c.7541A>Gp.Asn2514Ser | p.N2514SNM_206933.2:c.7541A>GVOUS02/12/2016
139USH2AEx40NM_206933.2:c.7573C>Ap.Pro2525Thr | p.P2525TNM_206933.2:c.7573C>AVOUS01/19/2016
140USH2AEx41NM_206933.2:c.7595-3C>GNM_206933.2:c.7595-3C>GLikely pathogenic06/26/2014 
141USH2AEx41NM_206933.2:c.7616C>Tp.Pro2539Leu | p.P2539LNM_206933.2:c.7616C>TVOUS08/26/2016
142USH2AEx41NM_206933.2:c.7679A>Gp.Asn2560Ser | p.N2560SVOUS02/18/2014
143USH2AEx41NM_206933.2:c.7685T>Cp.Val2562Ala | p.V2562ANM_206933.2:c.7685T>CBenign02/05/2015 
144USH2AEx41NM_206933.2:c.7718G>Ap.Arg2573His | p.R2573HNM_206933.2:c.7718G>AVOUS11/08/2016
145USH2AEx41NM_206933.2:c.7915T>Cp.Ser2639Pro | p.S2639PNM_206933.2:c.7915T>CVOUS10/21/2013
146USH2AEx41NM_206933.2:c.8016G>Ap.Leu2672= | p.L2672=NM_206933.2:c.8016G>AVOUS02/24/2015
147USH2AEx41NM_206933.2:c.8179dupGNM_206933.2:c.8175_8176insG, NM_206933.2:c.8179_8180insG, NM_206933.2:c.8179dupPathogenic11/28/2016 
148USH2AEx42NM_206933.2:c.8315C>Tp.Thr2772Ile | p.T2772INM_206933.2:c.8315C>TVOUS04/20/2017
149USH2AEx42NM_206933.2:c.8393G>Cp.Gly2798Ala | p.G2798ANM_206933.2:c.8393G>CVOUS08/16/2016
150USH2AEx42NM_206933.2:c.8552A>Cp.Asn2851Thr | p.N2851TNM_206933.2:c.8552A>CVOUS07/19/2016
151USH2AEx43NM_206933.2:c.8559-7G>ANM_206933.2:c.8559-7G>AVOUS03/31/2017
152USH2AEx43NM_206933.2:c.8559-2A>GNM_206933.2:c.8559-2A>GPathogenic01/19/2017 
153USH2AEx43NM_206933.2:c.8605C>Ap.Pro2869Thr | p.P2869TNM_206933.2:c.8605C>AVOUS09/21/2018
154USH2AEx43NM_206933.2:c.8656C>Tp.Leu2886Phe | p.L2886FNM_206933.2:c.8656C>TBenign10/15/2015 
155USH2AEx44NM_206933.2:c.8682-9A>GNM_206933.2:c.8682-9A>GLikely pathogenic05/07/2015 
156USH2AEx44NM_206933.2:c.8709C>Tp.Phe2903= | p.F2903=NM_206933.2:c.8709C>TVOUS12/13/2019
157USH2AEx44NM_206933.2:c.8730T>Ap.Phe2910Leu | p.F2910LNM_206933.2:c.8730T>AVOUS11/04/2014
158USH2AEx44NM_206933.2:c.8778G>Ap.Glu2926= | p.E2926=NM_206933.2:c.8778G>AVOUS04/05/2018
159USH2AEx44NM_206933.2:c.8815A>Gp.Thr2939Ala | p.T2939ANM_206933.2:c.8815A>GVOUS05/14/2018
160USH2AEx45NM_206933.2:c.8856C>Tp.Asp2952= | p.D2952=NM_206933.2:c.8856C>TVOUS10/25/2013
161USH2AEx45NM_206933.2:c.8937A>Gp.Val2979= | p.V2979=NM_206933.2:c.8937A>GBenign04/08/2016 
162USH2AEx45NM_206933.2:c.8992T>Cp.Ser2998Pro | p.S2998PNM_206933.2:c.8992T>CVOUS04/29/2016
163USH2AEx45NM_206933.2:c.9008T>Cp.Val3003Ala | p.V3003ANM_206933.2:c.9008T>CVOUS01/28/2016
164USH2AEx45NM_206933.2:c.9037G>Ap.Ala3013Thr | p.A3013TNM_206933.2:c.9037G>AVOUS04/14/2016
165USH2AEx46NM_206933.2:c.9244A>Gp.Ile3082Val | p.I3082VNM_206933.2:c.9244A>GVOUS12/07/2018
166USH2AEx47NM_206933.2:c.9262G>Ap.Glu3088Lys | p.E3088KNM_206933.2:c.9262G>ABenign04/28/2015 
167USH2AEx47NM_206933.2:c.9286G>Ap.Val3096Met | p.V3096MNM_206933.2:c.9286G>AVOUS05/27/2014
168USH2AEx47NM_206933.2:c.9291A>Cp.Lys3097Asn | p.K3097NNM_206933.2:c.9291A>CVOUS04/04/2018
169USH2AEx47NM_206933.2:c.9296A>Gp.Asn3099Ser | p.N3099SNM_206933.2:c.9296A>GBenign05/27/2014 
170USH2AEx47NM_206933.2:c.9371+1G>CNM_206933.2:c.9371+1G>CPathogenic11/30/2016 
171USH2AEx48NM_206933.2:c.9390G>Ap.Trp3130* | p.W3130XNM_206933.2:c.9390G>APathogenic10/27/2015 
172USH2AEx48NM_206933.2:c.9401G>Ap.Arg3134Gln | p.R3134QNM_206933.2:c.9401G>AVOUS05/29/2015
173USH2AEx49NM_206933.2:c.9604C>Gp.Pro3202Ala | p.P3202ANM_206933.2:c.9604C>GVOUS03/18/2016
174USH2AEx49NM_206933.2:c.9688G>Ap.Ala3230Thr | p.A3230TNM_206933.2:c.9688G>AVOUS02/01/2017
175USH2AEx50NM_206933.2:c.9820T>Ap.Ser3274Thr | p.S3274TNM_206933.2:c.9820T>AVOUS12/20/2017
176USH2AEx50NM_206933.2:c.9882C>Gp.Cys3294Trp | p.C3294WNM_206933.2:c.9882C>GVOUS02/01/2017
177USH2AEx50NM_206933.2:c.9958+8G>TNM_206933.2:c.9958+8G>TVOUS03/01/2016
178USH2AEx51NM_206933.2:c.10073G>Ap.Cys3358Tyr | p.C3358YNM_206933.2:c.10073G>APathogenic04/05/2017 
179USH2AEx51NM_206933.2:c.10126T>Gp.Tyr3376Asp | p.Y3376DNM_206933.2:c.10126T>GVOUS03/31/2017
180USH2AEx52NM_206933.2:c.10190_10191delAANM_206933.2:c.10190_10191delAAPathogenic10/01/2015 
181USH2AEx52NM_206933.2:c.10232A>Cp.Glu3411Ala | p.E3411ANM_206933.2:c.10232A>CBenign03/06/2013 
182USH2AEx52NM_206933.2:c.10256_10262delACTTTACinsCATTTGCACTGTGCAGTGAp.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp | p.N3419_T3421delinsTFALCSDNM_206933.2:c.10256_10262delinsCATTTGCACTGTGCAGTGAVOUS08/20/2018
183USH2AEx52NM_206933.2:c.10341C>Tp.Ala3447= | p.A3447=NM_206933.2:c.10341C>TVOUS11/17/2014
184USH2AEx52NM_206933.2:c.10342G>Ap.Glu3448Lys | p.E3448KNM_206933.2:c.10342G>ALikely pathogenic04/04/2016 
185USH2AEx53NM_206933.2:c.10388-17_10388-7delATTTTTTCTCTNM_206933.2:c.10388-17_10388-7delATTTTTTCTCTVOUS02/20/2018
186USH2AEx53NM_206933.2:c.10470G>Tp.Val3490= | p.V3490=NM_206933.2:c.10470G>TVOUS11/16/2017
187USH2AEx53NM_206933.2:c.10497T>Cp.Pro3499= | p.P3499=NM_206933.2:c.10497T>CVOUS09/18/2017
188USH2AEx53NM_206933.2:c.10510C>Gp.Pro3504Ala | p.P3504ANM_206933.2:c.10510C>GBenign10/24/2016 
189USH2AEx53NM_206933.2:c.10518G>Ap.Thr3506= | p.T3506=NM_206933.2:c.10518G>ALikely benign04/12/2019 
190USH2AEx54NM_206933.2:c.10613G>Ap.Arg3538Gln | p.R3538QNM_206933.2:c.10613G>AVOUS05/04/2016
191USH2AEx54NM_206933.2:c.10680T>Cp.Phe3560= | p.F3560=NM_206933.2:c.10680T>CVOUS09/17/2019
192USH2AEx55NM_206933.2:c.10769C>Tp.Pro3590Leu | p.P3590LNM_206933.2:c.10769C>TVOUS03/22/2016
193USH2AEx55NM_206933.2:c.10826G>Tp.Ser3609Ile | p.S3609INM_206933.2:c.10826G>TVOUS03/27/2018
194USH2AEx55NM_206933.2:c.10836C>Ap.Val3612= | p.V3612=NM_206933.2:c.10836C>ABenign09/15/2014 
195USH2AEx55NM_206933.2:c.10858A>Gp.Ile3620Val | p.I3620VNM_206933.2:c.10858A>GBenign09/15/2014 
196USH2AEx55NM_206933.2:c.10901A>Gp.His3634Arg | p.H3634RNM_206933.2:c.10901A>GVOUS02/11/2020
197USH2AEx55NM_206933.2:c.10928A>Gp.His3643Arg | p.H3643RNM_206933.2:c.10928A>GVOUS07/21/2017
198USH2AEx56NM_206933.2:c.11047+1G>ANM_206933.2:c.11047+1G>APathogenic04/11/2017 
199USH2AEx57NM_206933.2:c.11124C>Gp.Pro3708= | p.P3708=NM_206933.2:c.11124C>GVOUS08/21/2014
200USH2AEx57NM_206933.2:c.11189A>Gp.Glu3730Gly | p.E3730GNM_206933.2:c.11189A>GVOUS07/25/2017
201USH2AEx57NM_206933.2:c.11191G>Cp.Glu3731Gln | p.E3731QNM_206933.2:c.11191G>CVOUS11/12/2019
202USH2AEx57NM_206933.2:c.11225A>Gp.Asn3742Ser | p.N3742SNM_206933.2:c.11225A>GVOUS01/18/2017
203USH2AEx57NM_206933.2:c.11230A>Gp.Arg3744Gly | p.R3744GNM_206933.2:c.11230A>GVOUS01/30/2018
204USH2AEx59NM_206933.2:c.11467G>Ap.Val3823Ile | p.V3823INM_206933.2:c.11467G>AVOUS11/12/2019
205USH2AEx59NM_206933.2:c.11506C>Tp.Pro3836Ser | p.P3836SNM_206933.2:c.11506C>TVOUS11/28/2017
206USH2AEx60NM_206933.2:c.11549-5delTNM_206933.2:c.11549-5delTBenign08/29/2014 
207USH2AEx60NM_206933.2:c.11549-5dupTNM_206933.2:c.11549-6_11549-5insTBenign08/29/2014 
208USH2AEx60NM_206933.2:c.11585C>Gp.Thr3862Arg | p.T3862RNM_206933.2:c.11585C>GVOUS08/25/2016
209USH2AEx60NM_206933.2:c.11602A>Gp.Met3868Val | p.M3868VNM_206933.2:c.11602A>GBenign06/26/2014 
210USH2AEx60NM_206933.2:c.11677C>Ap.Pro3893Thr | p.P3893TNM_206933.2:c.11677C>ABenign03/21/2017 
211USH2AEx61NM_206933.2:c.11864G>Ap.Trp3955* | p.W3955XNM_206933.2:c.11864G>APathogenic08/30/2016 
212USH2AEx61NM_206933.2:c.11875_11876delCANM_206933.2:c.11875_11876delCAPathogenic10/08/2014 
213USH2AEx61NM_206933.2:c.11927C>Tp.Thr3976Met | p.T3976MNM_206933.2:c.11927C>TVOUS10/28/2015
214USH2AEx61NM_206933.2:c.11928G>Ap.Thr3976= | p.T3976=NM_206933.2:c.11928G>ABenign11/04/2014 
215USH2AEx61NM_206933.2:c.11946G>Ap.Leu3982= | p.L3982=NM_206933.2:c.11946G>ABenign11/04/2014 
216USH2AEx61NM_206933.2:c.12046G>Ap.Val4016Met | p.V4016MNM_206933.2:c.12046G>ABenign04/08/2016 
217USH2AEx62NM_206933.2:c.12067-4A>GNM_206933.2:c.12067-4A>GVOUS03/27/2018
218USH2AEx62NM_206933.2:c.12067-2A>GNM_206933.2:c.12067-2A>GPathogenic05/10/2016 
219USH2AEx62NM_206933.2:c.12093C>Tp.Tyr4031= | p.Y4031=NM_206933.2:c.12093C>TLikely benign02/20/2015 
220USH2AEx62NM_206933.2:c.12128T>Gp.Val4043Gly | p.V4043GNM_206933.2:c.12128T>GVOUS09/20/2016
221USH2AEx62NM_206933.2:c.12234_12235delGANM_206933.2:c.12234_12235delGAPathogenic09/13/2016 
222USH2AEx63NM_206933.2:c.12295-3T>ANM_206933.2:c.12295-3T>APathogenic04/23/2020 
223USH2AEx63NM_206933.2:c.12343C>Tp.Arg4115Cys | p.R4115CNM_206933.2:c.12343C>TVOUS05/23/2017
224USH2AEx63NM_206933.2:c.12443T>Cp.Leu4148Pro | p.L4148PNM_206933.2:c.12443T>CVOUS10/27/2015
225USH2AEx63NM_206933.2:c.12445T>Cp.Trp4149Arg | p.W4149RNM_206933.2:c.12445T>CBenign04/14/2016 
226USH2AEx63NM_206933.2:c.12455A>Gp.Glu4152Gly | p.E4152GNM_206933.2:c.12455A>GVOUS12/10/2015
227USH2AEx63NM_206933.2:c.12505A>Gp.Thr4169Ala | p.T4169ANM_206933.2:c.12505A>GVOUS02/11/2020
228USH2AEx63NM_206933.2:c.12574C>Tp.Arg4192Cys | p.R4192CNM_206933.2:c.12574C>TVOUS07/10/2015
229USH2AEx63NM_206933.2:c.12575G>Ap.Arg4192His | p.R4192HNM_206933.2:c.12575G>APathogenic04/28/2020 
230USH2AEx63NM_206933.2:c.12598T>Gp.Trp4200Gly | p.W4200GNM_206933.2:c.12598T>GVOUS04/14/2016
231USH2AEx63NM_206933.2:c.12608A>Gp.Gln4203Arg | p.Q4203RNM_206933.2:c.12608A>GBenign01/12/2015 
232USH2AEx63NM_206933.2:c.12612A>Gp.Thr4204= | p.T4204=NM_206933.2:c.12612A>GBenign08/19/2014 
233USH2AEx63NM_206933.2:c.12666A>Gp.Thr4222= | p.T4222=NM_206933.2:c.12666A>GBenign01/21/2015 
234USH2AEx63NM_206933.2:c.12697_12698delTGp.Trp4233Aspfs*4 | p.W4233DfsX4NM_206933.2:c.12697_12698delTGPathogenic09/04/2019 
235USH2AEx63NM_206933.2:c.12823T>Ap.Ser4275Thr | p.S4275TNM_206933.2:c.12823T>AVOUS10/06/2016
236USH2AEx63NM_206933.2:c.12997C>Gp.Leu4333Val | p.L4333VNM_206933.2:c.12997C>GVOUS07/22/2014
237USH2AEx63NM_206933.2:c.13078A>Gp.Ser4360Gly | p.S4360GNM_206933.2:c.13078A>GVOUS01/05/2015
238USH2AEx63NM_206933.2:c.13097C>Tp.Ala4366Val | p.A4366VNM_206933.2:c.13097C>TVOUS05/29/2015
239USH2AEx63NM_206933.2:c.13112_13115delAAATp.Gln4371Argfs*19 | p.Q4371RfsX19NM_206933.2:c.13112_13115delAAATPathogenic08/15/2018 
240USH2AEx63NM_206933.2:c.13130C>Ap.Ser4377* | p.S4377XNM_206933.2:c.13130C>APathogenic02/17/2016 
241USH2AEx63NM_206933.2:c.13191G>Ap.Glu4397= | p.E4397=NM_206933.2:c.13191G>ABenign07/22/2014 
242USH2AEx63NM_206933.2:c.13198G>Tp.Ala4400Ser | p.A4400SNM_206933.2:c.13198G>TVOUS07/25/2017
243USH2AEx63NM_206933.2:c.13250A>Gp.Tyr4417Cys | p.Y4417CNM_206933.2:c.13250A>GVOUS06/12/2014
244USH2AEx63NM_206933.2:c.13274C>Tp.Thr4425Met | p.T4425MNM_206933.2:c.13274C>TVOUS06/28/2018
245USH2AEx63NM_206933.2:c.13297G>Tp.Val4433Leu | p.V4433LNM_206933.2:c.13297G>TBenign07/22/2014 
246USH2AEx63NM_206933.2:c.13316C>Tp.Thr4439Ile | p.T4439INM_206933.2:c.13316C>TPathogenic01/04/2019 
247USH2AEx63NM_206933.2:c.13343A>Gp.Asp4448Gly | p.D4448GNM_206933.2:c.13343A>GVOUS04/20/2017
248USH2AEx63NM_206933.2:c.13404A>Gp.Arg4468= | p.R4468=NM_206933.2:c.13404A>GLikely benign07/10/2018 
249USH2AEx63NM_206933.2:c.13440G>Ap.Arg4480= | p.R4480=NM_206933.2:c.13440G>ABenign10/16/2013 
250USH2AEx63NM_206933.2:c.13478G>Ap.Arg4493His | p.R4493HNM_206933.2:c.13478G>ALikely benign06/28/2016 
251USH2AEx63NM_206933.2:c.13547G>Cp.Gly4516Ala | p.G4516ANM_206933.2:c.13547G>CVOUS04/15/2019
252USH2AEx63NM_206933.2:c.13586C>Tp.Pro4529Leu | p.P4529LNM_206933.2:c.13586C>TVOUS03/23/2016
253USH2AEx63NM_206933.2:c.13695T>Gp.Tyr4565* | p.Y4565XNM_206933.2:c.13695T>GPathogenic11/15/2016 
254USH2AEx63NM_206933.2:c.13709G>Ap.Arg4570His | p.R4570HNM_206933.2:c.13709G>ALikely benign10/29/2015 
255USH2AEx64NM_206933.2:c.14073C>Tp.Asn4691= | p.N4691=NM_206933.2:c.14073C>TVOUS08/03/2016
256USH2AEx64NM_206933.2:c.14074G>Ap.Gly4692Arg | p.G4692RNM_206933.2:c.14074G>ABenign02/09/2015 
257USH2AEx65NM_206933.2:c.14175G>Ap.Trp4725* | p.W4725XNM_206933.2:c.14175G>APathogenic10/03/2015 
258USH2AEx66NM_206933.2:c.14419G>Ap.Ala4807Thr | p.A4807TNM_206933.2:c.14419G>AVOUS04/28/2015
259USH2AEx66NM_206933.2:c.14426C>Tp.Thr4809Ile | p.T4809INM_206933.2:c.14426C>TVOUS12/19/2016
260USH2AEx66NM_206933.2:c.14481C>Tp.Ala4827= | p.A4827=NM_206933.2:c.14481C>TBenign05/21/2014 
261USH2AEx66NM_206933.2:c.14502_14503delTCNM_206933.2:c.14502_14503delTCPathogenic11/17/2014 
262USH2AEx66NM_206933.2:c.14513G>Ap.Gly4838Glu | p.G4838ENM_206933.2:c.14513G>ABenign05/21/2014 
263USH2AEx66NM_206933.2:c.14517G>Ap.Thr4839= | p.T4839=NM_206933.2:c.14517G>AVOUS03/12/2018
264USH2AEx66NM_206933.2:c.14543G>Ap.Arg4848Gln | p.R4848QNM_206933.2:c.14543G>ABenign08/02/2016 
265USH2AEx67NM_206933.2:c.14642G>Cp.Ser4881Thr | p.S4881TNM_206933.2:c.14642G>CLikely benign08/21/2017 
266USH2AEx67NM_206933.2:c.14664G>Ap.Thr4888= | p.T4888=NM_206933.2:c.14664G>AVOUS03/29/2018
267USH2AEx67NM_206933.2:c.14753C>Tp.Thr4918Met | p.T4918MNM_206933.2:c.14753C>TVOUS10/16/2014
268USH2AEx67NM_206933.2:c.14760C>Tp.Ser4920= | p.S4920=NM_206933.2:c.14760C>TVOUS03/01/2016
269USH2AEx68NM_206933.2:c.14832G>Tp.Leu4944Phe | p.L4944FNM_206933.2:c.14832G>TVOUS08/08/2016
270USH2AEx68NM_206933.2:c.14960C>Tp.Ala4987Val | p.A4987VNM_206933.2:c.14960C>TBenign01/15/2019 
271USH2AEx70NM_206933.2:c.15076A>Gp.Lys5026Glu | p.K5026ENM_206933.2:c.15076A>GBenign05/21/2014 
272USH2AEx70NM_206933.2:c.15091C>Tp.Arg5031Trp | p.R5031WNM_206933.2:c.15091C>TBenign03/28/2017 
273USH2AEx70NM_206933.2:c.15297+3A>GNM_206933.2:c.15297+3A>GBenign04/25/2014 
274USH2AEx71NM_206933.2:c.15306C>Gp.Ala5102= | p.A5102=NM_206933.2:c.15306C>GVOUS11/12/2015
275USH2AEx71NM_206933.2:c.15306C>Tp.Ala5102= | p.A5102=NM_206933.2:c.15306C>TVOUS10/20/2015
276USH2AEx71NM_206933.2:c.15377T>Cp.Ile5126Thr | p.I5126TNM_206933.2:c.15377T>CBenign05/20/2015 
277USH2AEx71NM_206933.2:c.15426C>Tp.His5142= | p.H5142=NM_206933.2:c.15426C>TVOUS09/24/2018
278USH2AEx71NM_206933.2:c.15427C>Tp.Arg5143Cys | p.R5143CNM_206933.2:c.15427C>TBenign05/13/2015 
279USH2AEx71NM_206933.2:c.15428G>Ap.Arg5143His | p.R5143HNM_206933.2:c.15428G>ABenign03/20/2018 
280USH2AEx71NM_206933.2:c.15433G>Ap.Val5145Ile | p.V5145INM_206933.2:c.15433G>ABenign12/17/2014 
281USH2AEx71NM_206933.2:c.15494C>Gp.Ala5165Gly | p.A5165GNM_206933.2:c.15494C>GVOUS07/24/2015
282USH2AEx72NM_206933.2:c.*4A>GNM_016121.3:c.*5159T>C, NM_206933.2:c.*4A>G, XM_005273156.1:c.*5159T>C, XM_005273157.1:c.*5159T>C, XM_005273158.1:c.*5159T>CLikely benign11/12/2015 
283USH2AEx72NM_206933.2:c.15520-1G>ANM_016121.3:c.*5253C>T, NM_206933.2:c.15520-1G>A, XM_005273156.1:c.*5253C>T, XM_005273157.1:c.*5253C>T, XM_005273158.1:c.*5253C>TLikely pathogenic05/10/2016 
284USH2AEx72NM_206933.2:c.15546C>Tp.Asn5182= | p.N5182=NM_016121.3:c.*5226G>A, NM_206933.2:c.15546C>T, XM_005273156.1:c.*5226G>A, XM_005273157.1:c.*5226G>A, XM_005273158.1:c.*5226G>ALikely benign11/12/2015 
285USH2AEx72NM_206933.2:c.15562A>Gp.Ser5188Gly | p.S5188GNM_016121.3:c.*5210T>C, NM_206933.2:c.15562A>G, XM_005273156.1:c.*5210T>C, XM_005273157.1:c.*5210T>C, XM_005273158.1:c.*5210T>CBenign05/21/2014 

* 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.