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EmVClass

EGL's Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by EGL Genetics for that gene.
EGL 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  
1RELNEx1NM_005045.3:c.-3GGC(4_10)Benign06/04/2014 
2RELNEx1NM_005045.3:c.-9_-1dupGGCGGCGGCNM_005045.3:c.-1_1insGGCGGCGGC, NM_173054.2:c.-1_1insGGCGGCGGC, XM_002342781.1:c.*36_*37insGCCGCCGCCLikely benign12/05/2014 
3RELNEx1NM_005045.3:c.-12_-1delGGCGGCGGCGGCNM_005045.3:c.-12delGGCGGCGGCGGC, NM_173054.2:c.-12delGGCGGCGGCGGC, XM_002342781.1:c.*48delGCCGCCGCCGCCBenign12/02/2015 
4RELNEx1NM_005045.3:c.26A>Cp.Gln9Pro | p.Q9PNM_005045.3:c.26A>C, NM_173054.2:c.26A>C, XM_002342781.1:c.*11T>GBenign03/03/2014 
5RELNEx1NM_005045.3:c.59C>Tp.Thr20Met | p.T20MNM_005045.3:c.59C>T, NM_173054.2:c.59C>T, XM_002342781.1:c.704G>AVOUS10/07/2019
6RELNEx1NM_005045.3:c.77C>Tp.Ala26Val | p.A26VNM_005045.3:c.77C>T, NM_173054.2:c.77C>T, XM_002342781.1:c.686G>ALikely benign02/22/2017 
7RELNEx1NM_005045.3:c.139G>Ap.Glu47Lys | p.E47KNM_005045.3:c.139G>A, NM_173054.2:c.139G>A, XM_002342781.1:c.624C>TVOUS05/06/2016
8RELNEx1NM_005045.3:c.226+8C>TNM_005045.3:c.226+8C>T, NM_173054.2:c.226+8C>T, XM_002342781.1:c.529G>AVOUS04/15/2014
9RELNEx2NM_005045.3:c.246C>Gp.Thr82= | p.T82=NM_005045.3:c.246C>G, NM_173054.2:c.246C>GLikely benign04/05/2018 
10RELNEx2NM_005045.3:c.326C>Tp.Ala109Val | p.A109VNM_005045.3:c.326C>T, NM_173054.2:c.326C>TVOUS07/26/2016
11RELNEx3NM_005045.3:c.361G>Cp.Gly121Arg | p.G121RNM_005045.3:c.361G>C, NM_173054.2:c.361G>CVOUS09/13/2016
12RELNEx3NM_005045.3:c.416C>Gp.Thr139Ser | p.T139SNM_005045.3:c.416C>G, NM_173054.2:c.416C>GBenign03/26/2015 
13RELNEx4NM_005045.3:c.474-7T>CNM_005045.3:c.474-7T>C, NM_173054.2:c.474-7T>CVOUS10/11/2017
14RELNEx4NM_005045.3:c.544+6C>ANM_005045.3:c.544+6C>A, NM_173054.2:c.544+6C>AVOUS04/28/2015
15RELNEx5NM_005045.3:c.565C>Tp.His189Tyr | p.H189YNM_005045.3:c.565C>T, NM_173054.2:c.565C>TBenign05/05/2016 
16RELNEx5NM_005045.3:c.577+7G>TNM_005045.3:c.577+7G>T, NM_173054.2:c.577+7G>TVOUS06/11/2018
17RELNEx6NM_005045.3:c.578-3T>CNM_005045.3:c.578-3T>C, NM_173054.2:c.578-3T>CBenign07/03/2012 
18RELNEx7NM_005045.3:c.670A>Cp.Asn224His | p.N224HNM_005045.3:c.670A>C, NM_173054.2:c.670A>CVOUS05/14/2015
19RELNEx7NM_005045.3:c.697G>Ap.Ala233Thr | p.A233TNM_005045.3:c.697G>A, NM_173054.2:c.697G>AVOUS10/15/2014
20RELNEx9NM_005045.3:c.831T>Cp.Tyr277= | p.Y277=VOUS02/11/2013
21RELNEx10NM_005045.3:c.906C>Tp.Ala302= | p.A302=NM_005045.3:c.906C>T, NM_173054.2:c.906C>TBenign07/04/2014 
22RELNEx10NM_005045.3:c.930C>Gp.Ile310Met | p.I310MNM_005045.3:c.930C>G, NM_173054.2:c.930C>GVOUS12/05/2018
23RELNEx10NM_005045.3:c.1001G>Ap.Arg334His | p.R334HNM_005045.3:c.1001G>A, NM_173054.2:c.1001G>AVOUS05/12/2016
24RELNEx10NM_005045.3:c.1013T>Gp.Val338Gly | p.V338GNM_005045.3:c.1013T>G, NM_173054.2:c.1013T>GVOUS01/10/2019
25RELNEx10NM_005045.3:c.1035A>Gp.Leu345= | p.L345=NM_005045.3:c.1035A>G, NM_173054.2:c.1035A>GVOUS04/13/2016
26RELNEx10NM_005045.3:c.1108G>Cp.Gly370Arg | p.G370RNM_005045.3:c.1108G>C, NM_173054.2:c.1108G>CVOUS12/17/2018
27RELNEx11NM_005045.3:c.1278C>Tp.Ser426= | p.S426=NM_005045.3:c.1278C>T, NM_173054.2:c.1278C>TVOUS11/30/2016
28RELNEx12NM_005045.3:c.1290-3dupTNM_005045.3:c.1290-3_1290-2insT, NM_005045.3:c.1290-3dup, NM_173054.2:c.1290-3dupBenign01/17/2014 
29RELNEx12NM_005045.3:c.1336G>Cp.Glu446Gln | p.E446QNM_005045.3:c.1336G>C, NM_173054.2:c.1336G>CVOUS10/25/2019
30RELNEx12NM_005045.3:c.1377G>Ap.Arg459= | p.R459=NM_005045.3:c.1377G>A, NM_173054.2:c.1377G>ALikely benign11/25/2014 
31RELNEx12NM_005045.3:c.1379A>Cp.Lys460Thr | p.K460TNM_005045.3:c.1379A>C, NM_173054.2:c.1379A>CVOUS08/30/2019
32RELNEx12NM_005045.3:c.1381T>Cp.Leu461= | p.L461=NM_005045.3:c.1381T>C, NM_173054.2:c.1381T>CVOUS09/14/2016
33RELNEx12NM_005045.3:c.1386C>Tp.Cys462= | p.C462=NM_005045.3:c.1386C>T, NM_173054.2:c.1386C>TVOUS02/13/2015
34RELNEx13NM_005045.3:c.1442-8T>CNM_005045.3:c.1442-8T>C, NM_173054.2:c.1442-8T>CLikely benign11/22/2014 
35RELNEx13NM_005045.3:c.1482A>Tp.Ile494= | p.I494=NM_005045.3:c.1482A>T, NM_173054.2:c.1482A>TVOUS07/21/2016
36RELNEx13NM_005045.3:c.1483A>Gp.Ile495Val | p.I495VNM_005045.3:c.1483A>G, NM_173054.2:c.1483A>GVOUS05/24/2019
37RELNEx14NM_005045.3:c.1588G>Ap.Glu530Lys | p.E530KNM_005045.3:c.1588G>A, NM_173054.2:c.1588G>AVOUS07/22/2015
38RELNEx14NM_005045.3:c.1596G>Ap.Gln532= | p.Q532=NM_005045.3:c.1596G>A, NM_173054.2:c.1596G>ABenign02/23/2013 
39RELNEx14NM_005045.3:c.1600C>Tp.Pro534Ser | p.P534SNM_005045.3:c.1600C>T, NM_173054.2:c.1600C>TVOUS12/20/2014
40RELNEx14NM_005045.3:c.1708C>Gp.His570Asp | p.H570DNM_005045.3:c.1708C>G, NM_173054.2:c.1708C>GVOUS01/21/2016
41RELNEx14NM_005045.3:c.1734G>Ap.Leu578= | p.L578=NM_005045.3:c.1734G>A, NM_173054.2:c.1734G>AVOUS04/24/2014
42RELNEx15NM_005045.3:c.1799C>Tp.Ser600Phe | p.S600FNM_005045.3:c.1799C>T, NM_173054.2:c.1799C>TBenign08/06/2013 
43RELNEx15NM_005045.3:c.1817C>Tp.Thr606Ile | p.T606INM_005045.3:c.1817C>T, NM_173054.2:c.1817C>TVOUS10/09/2014
44RELNEx15NM_005045.3:c.1892G>Ap.Gly631Glu | p.G631EVOUS04/02/2013
45RELNEx15NM_005045.3:c.1892+8C>TNM_005045.3:c.1892+8C>T, NM_173054.2:c.1892+8C>TVOUS12/14/2018
46RELNEx16NM_005045.3:c.1913C>Tp.Pro638Leu | p.P638LNM_005045.3:c.1913C>T, NM_173054.2:c.1913C>TVOUS06/27/2018
47RELNEx16NM_005045.3:c.1923C>Tp.Asn641= | p.N641=NM_005045.3:c.1923C>T, NM_173054.2:c.1923C>TVOUS03/31/2016
48RELNEx17NM_005045.3:c.2016G>Ap.Pro672= | p.P672=NM_005045.3:c.2016G>A, NM_173054.2:c.2016G>AVOUS01/10/2019
49RELNEx18NM_005045.3:c.2086T>Cp.Ser696Pro | p.S696PNM_005045.3:c.2086T>C, NM_173054.2:c.2086T>CVOUS05/12/2016
50RELNEx18NM_005045.3:c.2125A>Gp.Met709Val | p.M709VNM_005045.3:c.2125A>G, NM_173054.2:c.2125A>GVOUS07/08/2014
51RELNEx18NM_005045.3:c.2125A>Tp.Met709Leu | p.M709LNM_005045.3:c.2125A>T, NM_173054.2:c.2125A>TVOUS07/07/2014
52RELNEx18NM_005045.3:c.2176T>Ap.Phe726Ile | p.F726INM_005045.3:c.2176T>A, NM_173054.2:c.2176T>AVOUS08/09/2016
53RELNEx18NM_005045.3:c.2201T>Ap.Val734Asp | p.V734DNM_005045.3:c.2201T>A, NM_173054.2:c.2201T>AVOUS10/09/2014
54RELNEx18NM_005045.3:c.2260C>Tp.Arg754Trp | p.R754WNM_005045.3:c.2260C>T, NM_173054.2:c.2260C>TVOUS11/23/2015
55RELNEx19NM_005045.3:c.2376T>Cp.Gly792= | p.G792=NM_005045.3:c.2376T>C, NM_173054.2:c.2376T>CVOUS10/17/2017
56RELNEx19NM_005045.3:c.2446C>Tp.Leu816Phe | p.L816FNM_005045.3:c.2446C>T, NM_173054.2:c.2446C>TVOUS08/14/2013
57RELNEx19NM_005045.3:c.2453A>Gp.Tyr818Cys | p.Y818CNM_005045.3:c.2453A>G, NM_173054.2:c.2453A>GVOUS05/10/2017
58RELNEx20NM_005045.3:c.2466-7dupTNM_005045.3:c.2466-8_2466-7insT, NM_173054.2:c.2466-8_2466-7insTBenign07/14/2014 
59RELNEx20NM_005045.3:c.2637C>Tp.Val879= | p.V879=NM_005045.3:c.2637C>T, NM_173054.2:c.2637C>TVOUS06/14/2018
60RELNEx21NM_005045.3:c.2705T>Gp.Phe902Cys | p.F902CNM_005045.3:c.2705T>G, NM_173054.2:c.2705T>GVOUS04/24/2019
61RELNEx21NM_005045.3:c.2741A>Gp.Tyr914Cys | p.Y914CNM_005045.3:c.2741A>G, NM_173054.2:c.2741A>GVOUS10/24/2017
62RELNEx21NM_005045.3:c.2754A>Gp.Gln918= | p.Q918=NM_005045.3:c.2754A>G, NM_173054.2:c.2754A>GVOUS12/17/2014
63RELNEx22NM_005045.3:c.2954C>Gp.Ala985Gly | p.A985GNM_005045.3:c.2954C>G, NM_173054.2:c.2954C>GVOUS05/07/2014
64RELNEx22NM_005045.3:c.2989C>Gp.Leu997Val | p.L997VNM_005045.3:c.2989C>G, NM_173054.2:c.2989C>GBenign09/06/2018 
65RELNEx23NM_005045.3:c.3053_3058dupCTCAAGNM_005045.3:c.3053_3058dup, NM_173054.2:c.3053_3058dupVOUS01/17/2014
66RELNEx23NM_005045.3:c.3123C>Tp.Gly1041= | p.G1041=NM_005045.3:c.3123C>T, NM_173054.2:c.3123C>TLikely benign03/01/2017 
67RELNEx23NM_005045.3:c.3135T>Cp.His1045= | p.H1045=NM_005045.3:c.3135T>C, NM_173054.2:c.3135T>CVOUS04/06/2016
68RELNEx24NM_005045.3:c.3147-4A>GNM_005045.3:c.3147-4A>G, NM_173054.2:c.3147-4A>GVOUS11/15/2016
69RELNEx24NM_005045.3:c.3190G>Ap.Ala1064Thr | p.A1064TNM_005045.3:c.3190G>A, NM_173054.2:c.3190G>AVOUS05/18/2016
70RELNEx24NM_005045.3:c.3288A>Gp.Gln1096= | p.Q1096=NM_005045.3:c.3288A>G, NM_173054.2:c.3288A>GVOUS07/19/2016
71RELNEx24NM_005045.3:c.3315A>Gp.Ser1105= | p.S1105=NM_005045.3:c.3315A>G, NM_173054.2:c.3315A>GVOUS06/30/2015
72RELNEx25NM_005045.3:c.3411C>Tp.Gly1137= | p.G1137=NM_005045.3:c.3411C>T, NM_173054.2:c.3411C>TVOUS04/12/2016
73RELNEx25NM_005045.3:c.3477C>Ap.Asn1159Lys | p.N1159KNM_005045.3:c.3477C>A, NM_173054.2:c.3477C>ALikely benign09/04/2015 
74RELNEx26NM_005045.3:c.3651C>Gp.Ile1217Met | p.I1217MNM_005045.3:c.3651C>G, NM_173054.2:c.3651C>GLikely benign09/10/2014 
75RELNEx27NM_005045.3:c.3712A>Cp.Asn1238His | p.N1238HNM_005045.3:c.3712A>C, NM_173054.2:c.3712A>CBenign01/20/2015 
76RELNEx27NM_005045.3:c.3805T>Cp.Phe1269Leu | p.F1269LNM_005045.3:c.3805T>C, NM_173054.2:c.3805T>CVOUS06/30/2014
77RELNEx27NM_005045.3:c.3839G>Ap.Gly1280Glu | p.G1280ENM_005045.3:c.3839G>A, NM_173054.2:c.3839G>ABenign06/21/2013 
78RELNEx27NM_005045.3:c.3891T>Ap.Pro1297= | p.P1297=NM_005045.3:c.3891T>A, NM_173054.2:c.3891T>AVOUS11/21/2018
79RELNEx28NM_005045.3:c.3913-9T>CNM_005045.3:c.3913-9T>C, NM_173054.2:c.3913-9T>CVOUS03/15/2019
80RELNEx29NM_005045.3:c.4182A>Gp.Ser1394= | p.S1394=NM_005045.3:c.4182A>G, NM_173054.2:c.4182A>GVOUS03/15/2019
81RELNEx29NM_005045.3:c.4191C>Tp.Asn1397= | p.N1397=NM_005045.3:c.4191C>T, NM_173054.2:c.4191C>TVOUS05/02/2017
82RELNEx29NM_005045.3:c.4260G>Ap.Gly1420= | p.G1420=NM_005045.3:c.4260G>A, NM_173054.2:c.4260G>AVOUS06/09/2016
83RELNEx30NM_005045.3:c.4337A>Gp.Asn1446Ser | p.N1446SVOUS04/23/2013
84RELNEx30NM_005045.3:c.4354G>Ap.Asp1452Asn | p.D1452NNM_005045.3:c.4354G>A, NM_173054.2:c.4354G>AVOUS03/21/2016
85RELNEx30NM_005045.3:c.4408G>Ap.Val1470Ile | p.V1470INM_005045.3:c.4408G>A, NM_173054.2:c.4408G>ALikely benign11/22/2014 
86RELNEx30NM_005045.3:c.4457A>Gp.Asn1486Ser | p.N1486SNM_005045.3:c.4457A>G, NM_173054.2:c.4457A>GVOUS01/02/2015
87RELNEx30NM_005045.3:c.4495G>Cp.Asp1499His | p.D1499HNM_005045.3:c.4495G>C, NM_173054.2:c.4495G>CVOUS02/14/2018
88RELNEx32NM_005045.3:c.4594A>Gp.Ile1532Val | p.I1532VNM_005045.3:c.4594A>G, NM_173054.2:c.4594A>GVOUS05/05/2015
89RELNEx32NM_005045.3:c.4701C>Tp.Asp1567= | p.D1567=NM_005045.3:c.4701C>T, NM_173054.2:c.4701C>TVOUS05/22/2017
90RELNEx33NM_005045.3:c.4872A>Gp.Gln1624= | p.Q1624=NM_005045.3:c.4872A>G, NM_173054.2:c.4872A>GVOUS07/04/2014
91RELNEx33NM_005045.3:c.4903A>Gp.Met1635Val | p.M1635VNM_005045.3:c.4903A>G, NM_173054.2:c.4903A>GVOUS09/06/2018
92RELNEx33NM_005045.3:c.4934T>Cp.Ile1645Thr | p.I1645TNM_005045.3:c.4934T>C, NM_173054.2:c.4934T>CLikely benign11/17/2017 
93RELNEx34NM_005045.3:c.4937-5_4937-4dupTTNM_005045.3:c.4937-6_4937-5insTT, NM_173054.2:c.4937-6_4937-5insTTBenign09/05/2014 
94RELNEx34NM_005045.3:c.4937-4delTNM_005045.3:c.4937-4delT, NM_173054.2:c.4937-4delTBenign07/17/2014 
95RELNEx34NM_005045.3:c.5002A>Gp.Met1668Val | p.M1668VNM_005045.3:c.5002A>G, NM_173054.2:c.5002A>GVOUS11/24/2015
96RELNEx34NM_005045.3:c.5019C>Ap.Ser1673Arg | p.S1673RNM_005045.3:c.5019C>A, NM_173054.2:c.5019C>AVOUS06/21/2019
97RELNEx34NM_005045.3:c.5044G>Ap.Val1682Ile | p.V1682INM_005045.3:c.5044G>A, NM_173054.2:c.5044G>AVOUS04/01/2014
98RELNEx34NM_005045.3:c.5108C>Gp.Pro1703Arg | p.P1703RNM_005045.3:c.5108C>G, NM_173054.2:c.5108C>GBenign03/26/2015 
99RELNEx34NM_005045.3:c.5136G>Ap.Thr1712= | p.T1712=NM_005045.3:c.5136G>A, NM_173054.2:c.5136G>AVOUS08/22/2019
100RELNEx34NM_005045.3:c.5156C>Tp.Ser1719Leu | p.S1719LNM_005045.3:c.5156C>T, NM_173054.2:c.5156C>TBenign05/28/2014 
101RELNEx34NM_005045.3:c.5200C>Gp.Leu1734Val | p.L1734VNM_005045.3:c.5200C>G, NM_173054.2:c.5200C>GVOUS02/13/2015
102RELNEx35NM_005045.3:c.5211-9_5211-7delTTTNM_005045.3:c.5211-9_5211-7delTTT, NM_173054.2:c.5211-9_5211-7delTTTBenign10/14/2015 
103RELNEx35NM_005045.3:c.5211-7dupTNM_005045.3:c.5211-7_5211-6insT, NM_173054.2:c.5211-7_5211-6insTBenign06/24/2015 
104RELNEx35NM_005045.3:c.5274G>Tp.Ala1758= | p.A1758=NM_005045.3:c.5274G>T, NM_173054.2:c.5274G>TVOUS01/27/2014
105RELNEx35NM_005045.3:c.5284G>Ap.Val1762Ile | p.V1762INM_005045.3:c.5284G>A, NM_173054.2:c.5284G>ABenign01/27/2015 
106RELNEx35NM_005045.3:c.5338G>Ap.Ala1780Thr | p.A1780TNM_005045.3:c.5338G>A, NM_173054.2:c.5338G>AVOUS05/07/2015
107RELNEx35NM_005045.3:c.5344C>Tp.Arg1782Cys | p.R1782CNM_005045.3:c.5344C>T, NM_173054.2:c.5344C>TVOUS03/02/2015
108RELNEx35NM_005045.3:c.5350G>Ap.Val1784Met | p.V1784MNM_005045.3:c.5350G>A, NM_173054.2:c.5350G>AVOUS12/03/2014
109RELNEx35NM_005045.3:c.5351+3A>GBenign** 
110RELNEx36NM_005045.3:c.5360G>Cp.Arg1787Pro | p.R1787PNM_005045.3:c.5360G>C, NM_173054.2:c.5360G>CVOUS05/21/2014
111RELNEx36NM_005045.3:c.5418C>Tp.Asp1806= | p.D1806=NM_005045.3:c.5418C>T, NM_173054.2:c.5418C>TVOUS07/02/2015
112RELNEx36NM_005045.3:c.5465G>Cp.Gly1822Ala | p.G1822ANM_005045.3:c.5465G>C, NM_173054.2:c.5465G>CVOUS01/26/2017
113RELNEx38NM_005045.3:c.5618C>Tp.Thr1873Ile | p.T1873INM_005045.3:c.5618C>T, NM_173054.2:c.5618C>TBenign04/28/2015 
114RELNEx38NM_005045.3:c.5643G>Ap.Leu1881= | p.L1881=NM_005045.3:c.5643G>A, NM_173054.2:c.5643G>AVOUS10/07/2013
115RELNEx38NM_005045.3:c.5668A>Gp.Ile1890Val | p.I1890VNM_005045.3:c.5668A>G, NM_173054.2:c.5668A>GVOUS10/04/2016
116RELNEx38NM_005045.3:c.5711C>Tp.Thr1904Met | p.T1904MNM_005045.3:c.5711C>T, NM_173054.2:c.5711C>TVOUS05/31/2013
117RELNEx39NM_005045.3:c.5822T>Cp.Val1941Ala | p.V1941ANM_005045.3:c.5822T>C, NM_173054.2:c.5822T>CVOUS07/23/2015
118RELNEx39NM_005045.3:c.5923G>Ap.Gly1975Ser | p.G1975SNM_005045.3:c.5923G>A, NM_173054.2:c.5923G>ABenign02/07/2014 
119RELNEx39NM_005045.3:c.5961G>Tp.Lys1987Asn | p.K1987NNM_005045.3:c.5961G>T, NM_173054.2:c.5961G>TVOUS06/13/2016
120RELNEx40NM_005045.3:c.6027C>Tp.Thr2009= | p.T2009=NM_005045.3:c.6027C>T, NM_173054.2:c.6027C>TVOUS01/04/2017
121RELNEx40NM_005045.3:c.6072+4C>GNM_005045.3:c.6072+4C>G, NM_173054.2:c.6072+4C>GVOUS07/15/2014
122RELNEx41NM_005045.3:c.6073-8T>AVOUS07/22/2019
123RELNEx41NM_005045.3:c.6084C>Tp.Gly2028= | p.G2028=NM_005045.3:c.6084C>T, NM_173054.2:c.6084C>TBenign08/07/2013 
124RELNEx41NM_005045.3:c.6089C>Tp.Ser2030Leu | p.S2030LNM_005045.3:c.6089C>T, NM_173054.2:c.6089C>TVOUS05/10/2016
125RELNEx41NM_005045.3:c.6106G>Ap.Ala2036Thr | p.A2036TNM_005045.3:c.6106G>A, NM_173054.2:c.6106G>AVOUS12/14/2016
126RELNEx41NM_005045.3:c.6141C>Tp.Phe2047= | p.F2047=NM_005045.3:c.6141C>T, NM_173054.2:c.6141C>TVOUS05/01/2015
127RELNEx41NM_005045.3:c.6163C>Tp.Leu2055= | p.L2055=NM_005045.3:c.6163C>T, NM_173054.2:c.6163C>TVOUS03/11/2015
128RELNEx41NM_005045.3:c.6193G>Ap.Val2065Ile | p.V2065INM_005045.3:c.6193G>A, NM_173054.2:c.6193G>AVOUS04/09/2014
129RELNEx41NM_005045.3:c.6278A>Cp.His2093Pro | p.H2093PNM_005045.3:c.6278A>C, NM_173054.2:c.6278A>CVOUS07/19/2016
130RELNEx42NM_005045.3:c.6343G>Ap.Gly2115Ser | p.G2115SBenign** 
131RELNEx42NM_005045.3:c.6458G>Ap.Gly2153Asp | p.G2153DNM_005045.3:c.6458G>A, NM_173054.2:c.6458G>AVOUS01/22/2018
132RELNEx42NM_005045.3:c.6519C>Tp.Phe2173= | p.F2173=NM_005045.3:c.6519C>T, NM_173054.2:c.6519C>TVOUS01/30/2015
133RELNEx42NM_005045.3:c.6520G>Ap.Glu2174Lys | p.E2174KNM_005045.3:c.6520G>A, NM_173054.2:c.6520G>AVOUS09/08/2016
134RELNEx43NM_005045.3:c.6553A>Tp.Met2185Leu | p.M2185LNM_005045.3:c.6553A>T, NM_173054.2:c.6553A>TLikely benign05/21/2015 
135RELNEx43NM_005045.3:c.6647G>Ap.Arg2216Gln | p.R2216QNM_005045.3:c.6647G>A, NM_173054.2:c.6647G>AVOUS08/28/2013
136RELNEx44NM_005045.3:c.6702T>Cp.Cys2234= | p.C2234=NM_005045.3:c.6702T>C, NM_173054.2:c.6702T>CBenign11/30/2012 
137RELNEx44NM_005045.3:c.6726G>Cp.Arg2242Ser | p.R2242SNM_005045.3:c.6726G>C, NM_173054.2:c.6726G>CVOUS11/03/2014
138RELNEx44NM_005045.3:c.6789G>Ap.Glu2263= | p.E2263=NM_005045.3:c.6789G>A, NM_173054.2:c.6789G>AVOUS02/27/2019
139RELNEx44NM_005045.3:c.6925G>Ap.Asp2309Asn | p.D2309NNM_005045.3:c.6925G>A, NM_173054.2:c.6925G>AVOUS05/05/2014
140RELNEx45NM_005045.3:c.6939T>Cp.Ile2313= | p.I2313=NM_005045.3:c.6939T>C, NM_173054.2:c.6939T>CVOUS03/28/2019
141RELNEx45NM_005045.3:c.6969G>Ap.Leu2323= | p.L2323=NM_005045.3:c.6969G>A, NM_173054.2:c.6969G>AVOUS04/24/2015
142RELNEx45NM_005045.3:c.7110T>Cp.Val2370= | p.V2370=NM_005045.3:c.7110T>C, NM_173054.2:c.7110T>CBenign09/03/2013 
143RELNEx45NM_005045.3:c.7111G>Ap.Ala2371Thr | p.A2371TNM_005045.3:c.7111G>A, NM_173054.2:c.7111G>ABenign04/16/2015 
144RELNEx45NM_005045.3:c.7114G>Ap.Val2372Met | p.V2372MNM_005045.3:c.7114G>A, NM_173054.2:c.7114G>AVOUS11/12/2018
145RELNEx45NM_005045.3:c.7160C>Tp.Ser2387Leu | p.S2387LNM_005045.3:c.7160C>T, NM_173054.2:c.7160C>TVOUS03/16/2018
146RELNEx47NM_005045.3:c.7431C>Tp.Ile2477= | p.I2477=NM_005045.3:c.7431C>T, NM_173054.2:c.7431C>TVOUS03/13/2015
147RELNEx47NM_005045.3:c.7438G>Ap.Gly2480Ser | p.G2480SNM_005045.3:c.7438G>A, NM_173054.2:c.7438G>ALikely benign08/28/2015 
148RELNEx48NM_005045.3:c.7538C>Gp.Ser2513Cys | p.S2513CLikely benign04/02/2019 
149RELNEx48NM_005045.3:c.7580C>Ap.Ser2527Tyr | p.S2527YNM_005045.3:c.7580C>A, NM_173054.2:c.7580C>AVOUS07/09/2019
150RELNEx48NM_005045.3:c.7590C>Ap.Asn2530Lys | p.N2530KNM_005045.3:c.7590C>A, NM_173054.2:c.7590C>AVOUS05/02/2017
151RELNEx48NM_005045.3:c.7634C>Tp.Ala2545Val | p.A2545VNM_005045.3:c.7634C>T, NM_173054.2:c.7634C>TVOUS08/22/2017
152RELNEx48NM_005045.3:c.7636G>Ap.Val2546Met | p.V2546MNM_005045.3:c.7636G>A, NM_173054.2:c.7636G>AVOUS08/06/2019
153RELNEx49NM_005045.3:c.7719G>Cp.Glu2573Asp | p.E2573DNM_005045.3:c.7719G>C, NM_173054.2:c.7719G>CVOUS02/27/2017
154RELNEx49NM_005045.3:c.7787T>Cp.Leu2596Ser | p.L2596SNM_005045.3:c.7787T>C, NM_173054.2:c.7787T>CVOUS08/23/2018
155RELNEx50NM_005045.3:c.8046T>Cp.His2682= | p.H2682=Benign07/03/2012 
156RELNEx51NM_005045.3:c.8120-9T>CNM_005045.3:c.8120-9T>C, NM_173054.2:c.8120-9T>C, XR_242325.1:n.1487-1755A>GBenign04/14/2015 
157RELNEx51NM_005045.3:c.8136A>Gp.Leu2712= | p.L2712=NM_005045.3:c.8136A>G, NM_173054.2:c.8136A>GBenign07/03/2012 
158RELNEx51NM_005045.3:c.8153C>Tp.Thr2718Ile | p.T2718INM_005045.3:c.8153C>T, NM_173054.2:c.8153C>T, XR_242325.1:n.1487-1797G>AVOUS06/26/2019
159RELNEx51NM_005045.3:c.8212C>Tp.Arg2738Trp | p.R2738WNM_005045.3:c.8212C>T, NM_173054.2:c.8212C>T, XR_242325.1:n.1487-1856G>AVOUS11/29/2016
160RELNEx52NM_005045.3:c.8347G>Ap.Gly2783Ser | p.G2783SNM_005045.3:c.8347G>A, NM_173054.2:c.8347G>A, XR_242325.1:n.1366-1246C>TVOUS07/01/2016
161RELNEx52NM_005045.3:c.8489+4_8489+7delAGTANM_005045.3:c.8489+4_8489+7delAGTA, NM_173054.2:c.8489+4_8489+7delAGTA, XR_242325.1:n.1366-1395_1366-1392delTACTVOUS02/13/2015
162RELNEx53NM_005045.3:c.8508C>Tp.Phe2836= | p.F2836=Benign07/03/2012 
163RELNEx53NM_005045.3:c.8593G>Ap.Asp2865Asn | p.D2865NNM_005045.3:c.8593G>A, NM_173054.2:c.8593G>A, XR_242325.1:n.1366-3585C>TVOUS03/25/2015
164RELNEx53NM_005045.3:c.8634A>Gp.Ser2878= | p.S2878=NM_005045.3:c.8634A>G, NM_173054.2:c.8634A>G, XR_242325.1:n.1366-3626T>CVOUS10/30/2017
165RELNEx53NM_005045.3:c.8667+6G>ANM_005045.3:c.8667+6G>A, NM_173054.2:c.8667+6G>A, XR_242325.1:n.1366-3665C>TVOUS06/27/2019
166RELNEx54NM_005045.3:c.8668-8A>GNM_005045.3:c.8668-8A>G, NM_173054.2:c.8668-8A>G, XR_242325.1:n.1366-6144T>CVOUS11/10/2014
167RELNEx54NM_005045.3:c.8703C>Ap.Ile2901= | p.I2901=NM_005045.3:c.8703C>A, NM_173054.2:c.8703C>A, XR_242325.1:n.1366-6187G>TVOUS10/29/2014
168RELNEx54NM_005045.3:c.8766C>Tp.Ala2922= | p.A2922=NM_005045.3:c.8766C>T, NM_173054.2:c.8766C>T, XR_242325.1:n.1366-6250G>AVOUS04/02/2019
169RELNEx54NM_005045.3:c.8809G>Tp.Ala2937Ser | p.A2937SNM_005045.3:c.8809G>T, NM_173054.2:c.8809G>T, XR_242325.1:n.1366-6293C>AVOUS06/05/2014
170RELNEx54NM_005045.3:c.8811G>Ap.Ala2937= | p.A2937=NM_005045.3:c.8811G>A, NM_173054.2:c.8811G>ABenign10/31/2014 
171RELNEx54NM_005045.3:c.8843+3A>CNM_005045.3:c.8843+3A>C, NM_173054.2:c.8843+3A>C, XR_242325.1:n.1366-6330T>GVOUS06/05/2014
172RELNEx54NM_005045.3:c.8843+7G>CNM_005045.3:c.8843+7G>C, NM_173054.2:c.8843+7G>CBenign06/05/2014 
173RELNEx54NM_005045.3:c.8843+9A>GNM_005045.3:c.8843+9A>G, NM_173054.2:c.8843+9A>G, XR_242325.1:n.1366-6336T>CVOUS04/08/2016
174RELNEx55NM_005045.3:c.8863C>Tp.Arg2955Cys | p.R2955CNM_005045.3:c.8863C>T, NM_173054.2:c.8863C>T, XR_242325.1:n.1366-6497G>AVOUS08/10/2018
175RELNEx55NM_005045.3:c.8944G>Ap.Asp2982Asn | p.D2982NNM_005045.3:c.8944G>A, NM_173054.2:c.8944G>ABenign10/31/2014 
176RELNEx56NM_005045.3:c.9086A>Gp.Asn3029Ser | p.N3029SNM_005045.3:c.9086A>G, NM_173054.2:c.9086A>G, XR_242325.1:n.1366-7771T>CVOUS07/07/2016
177RELNEx57NM_005045.3:c.9276C>Tp.His3092= | p.H3092=NM_005045.3:c.9276C>T, NM_173054.2:c.9276C>T, XR_242325.1:n.1366-8588G>AVOUS11/21/2014
178RELNEx57NM_005045.3:c.9298_9300delAAGp.Lys3100del | p.K3100delNM_005045.3:c.9298_9300delAAG, NM_173054.2:c.9298_9300delAAG, XR_242325.1:n.1366-8612_1366-8610delCTTVOUS10/07/2019
179RELNEx57NM_005045.3:c.9321C>Tp.Leu3107= | p.L3107=NM_005045.3:c.9321C>T, NM_173054.2:c.9321C>T, XR_242325.1:n.1366-8633G>ABenign04/23/2015 
180RELNEx57NM_005045.3:c.9329G>Ap.Arg3110Gln | p.R3110QNM_005045.3:c.9329G>A, NM_173054.2:c.9329G>A, XR_242325.1:n.1366-8641C>TVOUS03/03/2014
181RELNEx57NM_005045.3:c.9339T>Cp.Ile3113= | p.I3113=NM_005045.3:c.9339T>C, NM_173054.2:c.9339T>CVOUS10/16/2013
182RELNEx57NM_005045.3:c.9340A>Gp.Ile3114Val | p.I3114VNM_005045.3:c.9340A>G, NM_173054.2:c.9340A>G, XR_242325.1:n.1366-8652T>CLikely benign03/01/2017 
183RELNEx58NM_005045.3:c.9370-13_9370-8delATGTTTNM_005045.3:c.9370-13_9370-8delATGTTT, NM_173054.2:c.9370-13_9370-8delATGTTTBenign04/22/2013 
184RELNEx58NM_005045.3:c.9370-10T>GNM_005045.3:c.9370-10T>G, NM_173054.2:c.9370-10T>GVOUS06/24/2013
185RELNEx58NM_005045.3:c.9414C>Tp.Ser3138= | p.S3138=NM_005045.3:c.9414C>T, NM_173054.2:c.9414C>T, XR_242325.1:n.1366-12422G>AVOUS11/21/2014
186RELNEx59NM_005045.3:c.9605+6T>ANM_005045.3:c.9605+6T>A, NM_173054.2:c.9605+6T>A, XR_242325.1:n.1366-13742A>TVOUS12/27/2016
187RELNEx60NM_005045.3:c.9620G>Ap.Arg3207His | p.R3207HNM_005045.3:c.9620G>A, NM_173054.2:c.9620G>A, XR_242325.1:n.1366-14519C>TVOUS08/21/2018
188RELNEx60NM_005045.3:c.9673G>Ap.Val3225Met | p.V3225MNM_005045.3:c.9673G>A, NM_173054.2:c.9673G>A, XR_242325.1:n.1366-14572C>TVOUS01/12/2017
189RELNEx60NM_005045.3:c.9690T>Gp.Ala3230= | p.A3230=VOUS02/14/2014
190RELNEx60NM_005045.3:c.9725C>Tp.Thr3242Met | p.T3242MNM_005045.3:c.9725C>T, NM_173054.2:c.9725C>T, XR_242325.1:n.1366-14624G>AVOUS10/11/2016
191RELNEx60NM_005045.3:c.9750C>Tp.Asp3250= | p.D3250=NM_005045.3:c.9750C>T, NM_173054.2:c.9750C>T, XR_242325.1:n.1366-14649G>AVOUS09/09/2016
192RELNEx60NM_005045.3:c.9763+3C>GNM_005045.3:c.9763+3C>G, NM_173054.2:c.9763+3C>G, XR_242325.1:n.1366-14665G>CVOUS06/24/2013
193RELNEx61NM_005045.3:c.9825C>Tp.Ser3275= | p.S3275=NM_005045.3:c.9825C>T, NM_173054.2:c.9825C>TVOUS11/11/2013
194RELNEx61NM_005045.3:c.9837C>Gp.Thr3279= | p.T3279=NM_005045.3:c.9837C>G, NM_173054.2:c.9837C>G, XR_242324.1:n.*4061G>C, XR_242325.1:n.1366-18061G>CVOUS02/25/2016
195RELNEx62NM_005045.3:c.10016T>Cp.Met3339Thr | p.M3339TVOUS02/28/2014
196RELNEx62NM_005045.3:c.10074A>Gp.Ala3358= | p.A3358=Benign07/03/2012 
197RELNEx62NM_005045.3:c.10120A>Gp.Ile3374Val | p.I3374VNM_005045.3:c.10120A>G, NM_173054.2:c.10120A>G, XR_242324.1:n.*1432T>C, XR_242325.1:n.1366-20690T>CVOUS03/01/2018
198RELNEx62NM_005045.3:c.10160G>Ap.Arg3387Lys | p.R3387KNM_005045.3:c.10160G>A, NM_173054.2:c.10160G>A, XR_242324.1:n.*1392C>T, XR_242325.1:n.1366-20730C>TVOUS10/20/2015
199RELNEx65NM_005045.3:c.10310T>Cp.Met3437Thr | p.M3437TNM_005045.3:c.10310T>C, NM_173054.2:c.10304T>C, XR_242324.1:n.280-9279A>G, XR_242325.1:n.1365+26217A>GVOUS11/21/2014
200RELNEx65NM_005045.3:c.10349A>Gp.Asn3450Ser | p.N3450SNM_005045.3:c.10349A>G, NM_173054.2:c.10343A>G, XR_242324.1:n.280-9318T>C, XR_242325.1:n.1365+26178T>CVOUS04/03/2015

* 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 EGL 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.2019-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 EGL clinical report and should be approached with caution. Only variants identified at EGL are listed in the EmVClass. If you intend to use EGL's classification for publication purposes please contact the laboratory for permission.