Loading Data . . .

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  
1ARSAEx1NM_000487.5:c.34delGp.Ala12Profs*16 | p.A12PfsX16NM_000487.4:c.28delG, NM_000487.5:c.34delG, NM_001085425.1:c.28delG, NM_001085425.2:c.34delG, NM_001085426.1:c.28delG, NM_001085426.2:c.34delG, NM_001085427.1:c.28delG, NM_001085427.2:c.34delG, NM_001085428.1:c.-35+200delG, NM_001085428.2:c.-35+200delG, XM_002343794.1:c.573delC, XR_109757.1:n.-3848delGPathogenic05/29/2013 
2ARSAEx1NM_000487.5:c.40G>Ap.Ala14Thr | p.A14TNM_000487.4:c.34G>A, NM_000487.4:c.34G>AG, NM_000487.4:p.A12T, NM_000487.4:p.Ala12ThrVOUS**
3ARSAEx1NM_000487.5:c.93C>Gp.Asp31Glu | p.D31ENM_000487.4:c.87C>CG, NM_000487.4:c.87C>G, NM_000487.4:p.Asp29Glu, NM_000487.4:p.D29EVOUS**
4ARSAEx1NM_000487.5:c.195delCNM_000487.4:c.189delCPathogenic07/10/2012 
5ARSAEx1NM_000487.5:c.211T>Gp.Cys71Gly | p.C71GNM_000487.4:c.205T>G, NM_000487.4:c.205T>GT, NM_000487.4:p.C69G, NM_000487.4:p.Cys69GlyVOUS**
6ARSAEx2NM_000487.5:c.225-5C>GNM_000487.4:c.219-5C>G, NM_000487.5:c.225-5C>G, NM_001085425.1:c.219-5C>G, NM_001085425.2:c.225-5C>G, NM_001085426.1:c.219-5C>G, NM_001085426.2:c.225-5C>G, NM_001085427.1:c.219-5C>G, NM_001085427.2:c.225-5C>G, NM_001085428.1:c.-34-5C>G, NM_001085428.2:c.-34-5C>G, XM_002343794.1:c.380G>C, XR_109757.1:n.-3513C>GVOUS10/27/2016
7ARSAEx2NM_000487.5:c.243C>Tp.Gly81= | p.G81=NM_000487.4:c.237C>T, NM_000487.5:c.243C>T, NM_001085425.1:c.237C>T, NM_001085425.2:c.243C>T, NM_001085426.1:c.237C>T, NM_001085426.2:c.243C>T, NM_001085427.1:c.237C>T, NM_001085427.2:c.243C>T, NM_001085428.1:c.-16C>T, NM_001085428.2:c.-16C>T, XM_002343794.1:c.357G>A, XR_109757.1:n.-3490C>TBenign01/15/2016 
8ARSAEx2NM_000487.5:c.257G>Ap.Arg86Gln | p.R86QNM_000487.4:c.251G>A, NM_000487.5:c.257G>A, NM_001085425.1:c.251G>A, NM_001085425.2:c.257G>A, NM_001085426.1:c.251G>A, NM_001085426.2:c.257G>A, NM_001085427.1:c.251G>A, NM_001085427.2:c.257G>A, NM_001085428.1:c.-2G>A, NM_001085428.2:c.-2G>A, R84Q, XM_002343794.1:c.343C>T, XR_109757.1:n.-3476G>APathogenic06/13/2014 
9ARSAEx2NM_000487.5:c.293C>Tp.Ser98Phe | p.S98FNM_000487.4:c.287C>T, NM_000487.4:p.S96F, NM_000487.4:p.Ser96Phe, NM_000487.5:c.293C>T, NM_001085425.2:c.293C>T, NM_001085426.2:c.293C>T, NM_001085427.2:c.293C>T, NM_001085428.2:c.35C>T, p.S96F, XR_109757.1:n.-3440C>TPathogenic05/08/2013 
10ARSAEx2NM_000487.5:c.296G>Cp.Arg99Pro | p.R99PNM_000487.4:c.290G>C, NM_000487.4:p.Arg97Pro, NM_000487.4:p.R97PVOUS**
11ARSAEx2NM_000487.5:c.302delGp.Gly101Alafs*7 | p.G101AfsX7NM_000487.4:c.296delG, NM_000487.5:c.302delG, NM_001085425.1:c.296delG, NM_001085425.2:c.302delG, NM_001085426.1:c.296delG, NM_001085426.2:c.302delG, NM_001085427.1:c.296delG, NM_001085427.2:c.302delG, NM_001085428.1:c.44delG, NM_001085428.2:c.44delG, XM_002343794.1:c.298delC, XR_109757.1:n.-3431delGPathogenic01/06/2017 
12ARSAEx2NM_000487.5:c.302G>Ap.Gly101Asp | p.G101DNM_000487.4:c.296G>A, NM_000487.5:c.302G>A, NM_001085425.1:c.296G>A, NM_001085425.2:c.302G>A, NM_001085426.1:c.296G>A, NM_001085426.2:c.302G>A, NM_001085427.1:c.296G>A, NM_001085427.2:c.302G>A, NM_001085428.1:c.44G>A, NM_001085428.2:c.44G>A, XM_002343794.1:c.298C>T, XR_109757.1:n.-3431G>ALikely pathogenic10/27/2016 
13ARSAEx2NM_000487.5:c.329C>Tp.Ala110Val | p.A110VNM_000487.4:c.323C>T, NM_000487.5:c.329C>T, NM_001085425.1:c.323C>T, NM_001085425.2:c.329C>T, NM_001085426.1:c.323C>T, NM_001085426.2:c.329C>T, NM_001085427.1:c.323C>T, NM_001085427.2:c.329C>T, NM_001085428.1:c.71C>T, NM_001085428.2:c.71C>T, XM_002343794.1:c.271G>A, XR_109757.1:n.-3404C>TVOUS11/23/2016
14ARSAEx2NM_000487.5:c.346C>Tp.Arg116* | p.R116XNM_000487.4:c.340C>CT, NM_000487.4:c.340C>T, NM_000487.4:p.Arg114*, NM_000487.4:p.R114*, NM_000487.5:c.346C>T, NM_001085425.2:c.346C>T, NM_001085426.2:c.346C>T, NM_001085427.2:c.346C>T, NM_001085428.2:c.88C>T, XR_109757.1:n.-3387C>TPathogenic01/19/2016 
15ARSAEx2NM_000487.5:c.369_374delCGGCAAinsAACCTTGGGNM_000487.4:c.363_368delinsAACCTTGGG, NM_000487.5:c.369_374delinsAACCTTGGG, NM_001085425.1:c.363_368delinsAACCTTGGG, NM_001085425.2:c.369_374delinsAACCTTGGG, NM_001085426.1:c.363_368delinsAACCTTGGG, NM_001085426.2:c.369_374delinsAACCTTGGG, NM_001085427.1:c.363_368delinsAACCTTGGG, NM_001085427.2:c.369_374delinsAACCTTGGG, NM_001085428.1:c.111_116delinsAACCTTGGG, NM_001085428.2:c.111_116delinsAACCTTGGG, XM_002343794.1:c.250-24_250-19delinsCCCAAGGTT, XR_109757.1:n.-3364_-3359delinsAACCTTGGGVOUS10/27/2016
16ARSAEx2NM_000487.5:c.370G>Ap.Gly124Ser | p.G124SNM_000487.4:c.364G>A, NM_000487.5:c.370G>A, NM_001085425.1:c.364G>A, NM_001085425.2:c.370G>A, NM_001085426.1:c.364G>A, NM_001085426.2:c.370G>A, NM_001085427.1:c.364G>A, NM_001085427.2:c.370G>A, NM_001085428.1:c.112G>A, NM_001085428.2:c.112G>A, p.G122S, XM_002343794.1:c.250-20C>T, XR_109757.1:n.-3363G>AVOUS10/27/2016
17ARSAEx2NM_000487.5:c.433C>Gp.Arg145Gly | p.R145GNM_000487.4:c.427C>CG, NM_000487.4:c.427C>G, NM_000487.4:p.Arg143Gly, NM_000487.4:p.R143GPathogenic** 
18ARSAEx2NM_000487.5:c.459C>Tp.His153= | p.H153=NM_000487.4:c.453C>CT, NM_000487.4:c.453C>T, NM_000487.4:p.(=), NM_000487.4:p.H151H, NM_000487.5:c.459C>T, NM_001085425.2:c.459C>T, NM_001085426.2:c.459C>T, NM_001085427.2:c.459C>T, NM_001085428.2:c.201C>TBenign09/24/2013 
19ARSAEx2NM_000487.5:c.465G>Ap.Gln155= | p.Q155=NM_000487.4:c.459G>A, NM_000487.5:c.465G>A, NM_001085425.1:c.459G>A, NM_001085425.2:c.465G>A, NM_001085426.1:c.459G>A, NM_001085426.2:c.465G>A, NM_001085427.1:c.459G>A, NM_001085427.2:c.465G>A, NM_001085428.1:c.207G>A, NM_001085428.2:c.207G>A, XM_002343794.1:c.250-115C>T, XR_109757.1:n.-3268G>AVOUS10/27/2016
20ARSAEx2NM_000487.5:c.465+1G>AIVS2+1G>A, NM_000487.4:c.459+1G>A, NM_000487.4:c.459+1G>AG, NM_000487.5:c.465+1G>A, NM_001085425.2:c.465+1G>A, NM_001085426.2:c.465+1G>A, NM_001085427.2:c.465+1G>A, NM_001085428.2:c.207+1G>A, XR_109757.1:n.-3267G>APathogenic07/29/2019 
21ARSAEx3NM_000487.5:c.466-44G>TNM_000487.4:c.460-44G>GT, NM_000487.4:c.460-44G>TBenign** 
22ARSAEx3NM_000487.5:c.474C>Ap.Cys158* | p.C158XNM_000487.4:c.468C>A, NM_000487.4:c.468C>AC, NM_000487.4:p.C156*, NM_000487.4:p.Cys156*, NM_000487.5:c.474C>A, NM_001085425.2:c.474C>A, NM_001085426.2:c.474C>A, NM_001085427.2:c.474C>A, NM_001085428.2:c.216C>APathogenic** 
23ARSAEx3NM_000487.5:c.542dupTNM_000487.4:c.536dupTPathogenic** 
24ARSAEx3NM_000487.5:c.542T>Gp.Ile181Ser | p.I181SNM_000487.4:c.536T>G, NM_000487.4:c.536T>GT, NM_000487.4:p.I179S, NM_000487.4:p.Ile179SerPathogenic02/10/2015 
25ARSAEx3NM_000487.5:c.565G>Ap.Val189Met | p.V189MNM_000487.4:c.559G>A, NM_000487.4:c.559G>AG, NM_000487.4:p.V187M, NM_000487.4:p.Val187MetVOUS**
26ARSAEx3NM_000487.5:c.583delTNM_000487.4:c.577delT, NM_000487.5:c.583delT, NM_001085425.1:c.577delT, NM_001085425.2:c.583delT, NM_001085426.1:c.577delT, NM_001085426.2:c.583delT, NM_001085427.1:c.577delT, NM_001085427.2:c.583delT, NM_001085428.1:c.325delT, NM_001085428.2:c.325delT, XM_002343794.1:c.249+298delA, XR_109757.1:n.-3037delTPathogenic03/27/2013 
27ARSAEx3NM_000487.5:c.585G>Tp.Trp195Cys | p.W195CNM_000487.4:c.579G>GT, NM_000487.4:c.579G>T, NM_000487.4:p.Trp193Cys, NM_000487.4:p.W193C, NM_000487.5:c.585G>T, NM_001085425.1:c.579G>T, NM_001085425.2:c.585G>T, NM_001085426.1:c.579G>T, NM_001085426.2:c.585G>T, NM_001085427.1:c.579G>T, NM_001085427.2:c.585G>T, NM_001085428.1:c.327G>T, NM_001085428.2:c.327G>T, XM_002343794.1:c.249+296C>A, XR_109757.1:n.-3035G>TBenign07/29/2019 
28ARSAEx3NM_000487.5:c.636C>Tp.Ala212= | p.A212=NM_000487.4:c.630C>CT, NM_000487.4:c.630C>T, NM_000487.4:p.(=), NM_000487.4:p.A210A, NM_000487.5:c.636C>T, NM_001085425.1:c.630C>T, NM_001085425.2:c.636C>T, NM_001085426.1:c.630C>T, NM_001085426.2:c.636C>T, NM_001085427.1:c.630C>T, NM_001085427.2:c.636C>T, NM_001085428.1:c.378C>T, NM_001085428.2:c.378C>T, XM_002343794.1:c.249+245G>A, XR_109757.1:n.-2984C>TBenign11/26/2012 
29ARSAEx3NM_000487.5:c.640G>Ap.Ala214Thr | p.A214TNM_000487.4:c.634G>A, NM_000487.5:c.640G>A, NM_001085425.1:c.634G>A, NM_001085425.2:c.640G>A, NM_001085426.1:c.634G>A, NM_001085426.2:c.640G>A, NM_001085427.1:c.634G>A, NM_001085427.2:c.640G>A, NM_001085428.1:c.382G>A, NM_001085428.2:c.382G>A, XM_002343794.1:c.249+241C>T, XR_109757.1:n.-2980G>AVOUS10/27/2016
30ARSAEx3NM_000487.5:c.641C>Tp.Ala214Val | p.A214VNM_000487.4:c.635C>T, NM_000487.5:c.641C>T, NM_001085425.1:c.635C>T, NM_001085425.2:c.641C>T, NM_001085426.1:c.635C>T, NM_001085426.2:c.641C>T, NM_001085427.1:c.635C>T, NM_001085427.2:c.641C>T, NM_001085428.1:c.383C>T, NM_001085428.2:c.383C>T, XM_002343794.1:c.249+240G>A, XR_109757.1:n.-2979C>TPathogenic06/13/2014 
31ARSAEx3NM_000487.5:c.656G>Ap.Arg219His | p.R219HNM_000487.4:c.650G>A, NM_000487.5:c.656G>A, NM_001085425.1:c.650G>A, NM_001085425.2:c.656G>A, NM_001085426.1:c.650G>A, NM_001085426.2:c.656G>A, NM_001085427.1:c.650G>A, NM_001085427.2:c.656G>A, NM_001085428.1:c.398G>A, NM_001085428.2:c.398G>A, XM_002343794.1:c.249+225C>T, XR_109757.1:n.-2964G>AVOUS05/26/2015
32ARSAEx3NM_000487.5:c.668T>Ap.Leu223Gln | p.L223QNM_000487.4:c.662T>A, NM_000487.4:c.662T>AT, NM_000487.4:p.L221Q, NM_000487.4:p.Leu221GlnVOUS**
33ARSAEx3NM_000487.5:c.677C>Tp.Ala226Val | p.A226VNM_000487.4:c.671C>T, NM_000487.5:c.677C>T, NM_001085425.1:c.671C>T, NM_001085425.2:c.677C>T, NM_001085426.1:c.671C>T, NM_001085426.2:c.677C>T, NM_001085427.1:c.671C>T, NM_001085427.2:c.677C>T, NM_001085428.1:c.419C>T, NM_001085428.2:c.419C>T, XM_002343794.1:c.249+204G>A, XR_109757.1:n.-2943C>TVOUS10/27/2016
34ARSAEx4NM_000487.5:c.685-41C>TNM_000487.4:c.679-41C>CT, NM_000487.4:c.679-41C>TBenign** 
35ARSAEx4NM_000487.5:c.685-7C>ANM_000487.4:c.679-7C>A, NM_000487.5:c.685-7C>A, NM_001085425.1:c.679-7C>A, NM_001085425.2:c.685-7C>A, NM_001085426.1:c.679-7C>A, NM_001085426.2:c.685-7C>A, NM_001085427.1:c.679-7C>A, NM_001085427.2:c.685-7C>A, NM_001085428.1:c.427-7C>A, NM_001085428.2:c.427-7C>A, XM_002343794.1:c.249+130G>T, XR_109757.1:n.-2869C>AVOUS06/17/2014
36ARSAEx4NM_000487.5:c.728G>Ap.Arg243His | p.R243HNM_000487.4:c.722G>A, NM_000487.4:c.722G>AG, NM_000487.4:p.Arg241His, NM_000487.4:p.R241HVOUS**
37ARSAEx4NM_000487.5:c.737G>Ap.Arg246His | p.R246HNM_000487.4:c.731G>A, NM_000487.4:c.731G>AG, NM_000487.4:p.Arg244His, NM_000487.4:p.R244H, NM_000487.5:c.737G>A, NM_001085425.2:c.737G>A, NM_001085426.2:c.737G>A, NM_001085427.2:c.737G>A, NM_001085428.2:c.479G>A, p.R244HPathogenic07/03/2013 
38ARSAEx4NM_000487.5:c.739G>Ap.Gly247Arg | p.G247R1070A, NM_000487.4:c.733G>A, NM_000487.5:c.739G>A, NM_001085425.1:c.733G>A, NM_001085425.2:c.739G>A, NM_001085426.1:c.733G>A, NM_001085426.2:c.739G>A, NM_001085427.1:c.733G>A, NM_001085427.2:c.739G>A, NM_001085428.1:c.481G>A, NM_001085428.2:c.481G>A, XM_002343794.1:c.249+69C>T, XR_109757.1:n.-2808G>APathogenic05/29/2014 
39ARSAEx4NM_000487.5:c.763G>Ap.Glu255Lys | p.E255KNM_000487.4:c.757G>A, NM_000487.4:c.757G>AG, NM_000487.4:p.E253K, NM_000487.4:p.Glu253LysPathogenic** 
40ARSAEx4NM_000487.5:c.769G>Cp.Asp257His | p.D257HNM_000487.4:c.763G>C, NM_000487.4:c.763G>CG, NM_000487.4:p.Asp255His, NM_000487.4:p.D255H, NM_000487.5:c.769G>C, NM_001085425.2:c.769G>C, NM_001085426.2:c.769G>C, NM_001085427.2:c.769G>C, NM_001085428.2:c.511G>C, XR_109757.1:n.-2778G>CPathogenic11/12/2015 
41ARSAEx4NM_000487.5:c.847G>Tp.Asp283Tyr | p.D283YNM_000487.4:c.841G>T, NM_000487.5:c.847G>T, NM_001085425.1:c.841G>T, NM_001085425.2:c.847G>T, NM_001085426.1:c.841G>T, NM_001085426.2:c.847G>T, NM_001085427.1:c.841G>T, NM_001085427.2:c.847G>T, NM_001085428.1:c.589G>T, NM_001085428.2:c.589G>T, p.D281Y, XM_002343794.1:c.210C>A, XR_109757.1:n.-2700G>TVOUS10/27/2016
42ARSAEx4NM_000487.5:c.854+1G>ANM_000487.4:c.848+1G>A, NM_000487.4:c.848+1G>AGPathogenic** 
43ARSAEx4NM_000487.5:c.854+5G>TNM_000487.4:c.848+5G>T, NM_000487.5:c.854+5G>T, NM_001085425.1:c.848+5G>T, NM_001085425.2:c.854+5G>T, NM_001085426.1:c.848+5G>T, NM_001085426.2:c.854+5G>T, NM_001085427.1:c.848+5G>T, NM_001085427.2:c.854+5G>T, NM_001085428.1:c.596+5G>T, NM_001085428.2:c.596+5G>T, XM_002343794.1:c.198C>A, XR_109757.1:n.-2688G>TVOUS10/27/2016
44ARSAEx5NM_000487.5:c.856C>Tp.Pro286Ser | p.P286SNM_000487.4:c.850C>CT, NM_000487.4:c.850C>T, NM_000487.4:p.P284S, NM_000487.4:p.Pro284SerVOUS**
45ARSAEx5NM_000487.5:c.869G>Tp.Arg290Leu | p.R290LNM_000487.4:c.863G>GT, NM_000487.4:c.863G>T, NM_000487.4:p.Arg288Leu, NM_000487.4:p.R288LLikely pathogenic09/09/2012 
46ARSAEx5NM_000487.5:c.869G>Ap.Arg290His | p.R290HNM_000487.4:c.863G>A, NM_000487.4:c.863G>AG, NM_000487.4:p.Arg288His, NM_000487.4:p.R288HPathogenic** 
47ARSAEx5NM_000487.5:c.883G>Ap.Gly295Ser | p.G295Sc.877G>A (p.Gly293Ser), NM_000487.4:c.877G>A, NM_000487.5:c.883G>A, NM_001085425.1:c.877G>A, NM_001085425.2:c.883G>A, NM_001085426.1:c.877G>A, NM_001085426.2:c.883G>A, NM_001085427.1:c.877G>A, NM_001085427.2:c.883G>A, NM_001085428.1:c.625G>A, NM_001085428.2:c.625G>A, p.G293S, XM_002343794.1:c.-139C>T, XR_109757.1:n.-2352G>APathogenic02/25/2013 
48ARSAEx5NM_000487.5:c.899T>Cp.Leu300Ser | p.L300SNM_000487.4:c.893T>C, NM_000487.5:c.899T>C, NM_001085425.1:c.893T>C, NM_001085425.2:c.899T>C, NM_001085426.1:c.893T>C, NM_001085426.2:c.899T>C, NM_001085427.1:c.893T>C, NM_001085427.2:c.899T>C, NM_001085428.1:c.641T>C, NM_001085428.2:c.641T>C, p.L298S, XM_002343794.1:c.-155A>G, XR_109757.1:n.-2336T>CPathogenic11/14/2012 
49ARSAEx5NM_000487.5:c.901C>Gp.Arg301Gly | p.R301GNM_000487.4:c.895C>G, NM_000487.5:c.901C>G, NM_001085425.1:c.895C>G, NM_001085425.2:c.901C>G, NM_001085426.1:c.895C>G, NM_001085426.2:c.901C>G, NM_001085427.1:c.895C>G, NM_001085427.2:c.901C>G, NM_001085428.1:c.643C>G, NM_001085428.2:c.643C>G, XM_002343794.1:c.-157G>C, XR_109757.1:n.-2334C>GVOUS10/27/2016
50ARSAEx5NM_000487.5:c.918G>Ap.Thr306= | p.T306=NM_000487.4:c.912G>A, NM_000487.5:c.918G>A, NM_001085425.1:c.912G>A, NM_001085425.2:c.918G>A, NM_001085426.1:c.912G>A, NM_001085426.2:c.918G>A, NM_001085427.1:c.912G>A, NM_001085427.2:c.918G>A, NM_001085428.1:c.660G>A, NM_001085428.2:c.660G>A, XM_002343794.1:c.-174C>T, XR_109757.1:n.-2317G>AVOUS06/30/2016
51ARSAEx5NM_000487.5:c.930C>Tp.Gly310= | p.G310=NM_000487.4:c.924C>T, NM_000487.5:c.930C>T, NM_001085425.1:c.924C>T, NM_001085425.2:c.930C>T, NM_001085426.1:c.924C>T, NM_001085426.2:c.930C>T, NM_001085427.1:c.924C>T, NM_001085427.2:c.930C>T, NM_001085428.1:c.672C>T, NM_001085428.2:c.672C>T, XM_002343794.1:c.-186G>A, XR_109757.1:n.-2305C>TVOUS01/29/2016
52ARSAEx5NM_000487.5:c.931G>Ap.Gly311Ser | p.G311SNM_000487.4:c.925G>A, NM_000487.4:c.925G>AG, NM_000487.4:p.G309S, NM_000487.4:p.Gly309SerPathogenic** 
53ARSAEx5NM_000487.5:c.932G>Ap.Gly311Asp | p.G311DNM_000487.4:c.926G>A, NM_000487.5:c.932G>A, NM_001085425.1:c.926G>A, NM_001085425.2:c.932G>A, NM_001085426.1:c.926G>A, NM_001085426.2:c.932G>A, NM_001085427.1:c.926G>A, NM_001085427.2:c.932G>A, NM_001085428.1:c.674G>A, NM_001085428.2:c.674G>A, XM_002343794.1:c.-188C>T, XR_109757.1:n.-2303G>AVOUS06/06/2016
54ARSAEx5NM_000487.5:c.937C>Tp.Arg313* | p.R313XNM_000487.4:c.931C>CT, NM_000487.4:c.931C>T, NM_000487.4:p.Arg311*, NM_000487.4:p.R311*Pathogenic** 
55ARSAEx5NM_000487.5:c.938G>Ap.Arg313Gln | p.R313QNM_000487.4:c.932G>A, NM_000487.4:c.932G>AG, NM_000487.4:p.Arg311Gln, NM_000487.4:p.R311QPathogenic** 
56ARSAEx5NM_000487.5:c.942G>Tp.Glu314Asp | p.E314DNM_000487.4:c.936G>GT, NM_000487.4:c.936G>T, NM_000487.4:p.E312D, NM_000487.4:p.Glu312AspVOUS**
57ARSAEx5NM_000487.5:c.960G>Tp.Trp320Cys | p.W320CNM_000487.4:c.954G>GT, NM_000487.4:c.954G>T, NM_000487.4:p.Trp318Cys, NM_000487.4:p.W318CVOUS**
58ARSAEx5NM_000487.5:c.979G>Ap.Gly327Ser | p.G327SNM_000487.4:c.973G>A, NM_000487.4:c.973G>AG, NM_000487.4:p.G325S, NM_000487.4:p.Gly325SerPathogenic** 
59ARSAEx5NM_000487.5:c.979+38A>GNM_000487.4:c.973+38A>AG, NM_000487.4:c.973+38A>GBenign** 
60ARSAEx6NM_000487.5:c.986C>Tp.Thr329Ile | p.T329INM_000487.4:c.980C>T, NM_000487.5:c.986C>T, NM_001085425.1:c.980C>T, NM_001085425.2:c.986C>T, NM_001085426.1:c.980C>T, NM_001085426.2:c.986C>T, NM_001085427.1:c.980C>T, NM_001085427.2:c.986C>T, NM_001085428.1:c.728C>T, NM_001085428.2:c.728C>T, p.T327I, XM_002343794.1:c.-332G>A, XR_109757.1:n.-2159C>TPathogenic11/26/2012 
61ARSAEx6NM_000487.5:c.988C>Tp.His330Tyr | p.H330YNM_000487.4:c.982C>CT, NM_000487.4:c.982C>T, NM_000487.4:p.H328Y, NM_000487.4:p.His328TyrVOUS**
62ARSAEx6NM_000487.5:c.991G>Tp.Glu331* | p.E331XNM_000487.4:c.985G>T, NM_000487.5:c.991G>T, NM_001085425.1:c.985G>T, NM_001085425.2:c.991G>T, NM_001085426.1:c.985G>T, NM_001085426.2:c.991G>T, NM_001085427.1:c.985G>T, NM_001085427.2:c.991G>T, NM_001085428.1:c.733G>T, NM_001085428.2:c.733G>T, p.E329X, XM_002343794.1:c.-337C>A, XR_109757.1:n.-2154G>TPathogenic07/29/2019 
63ARSAEx6NM_000487.5:c.991G>Ap.Glu331Lys | p.E331KNM_000487.4:c.985G>A, NM_000487.5:c.991G>A, NM_001085425.1:c.985G>A, NM_001085425.2:c.991G>A, NM_001085426.1:c.985G>A, NM_001085426.2:c.991G>A, NM_001085427.1:c.985G>A, NM_001085427.2:c.991G>A, NM_001085428.1:c.733G>A, NM_001085428.2:c.733G>A, XM_002343794.1:c.-337C>T, XR_109757.1:n.-2154G>ALikely pathogenic08/28/2019 
64ARSAEx6NM_000487.5:c.1002C>Tp.Ser334= | p.S334=NM_000487.4:c.996C>CT, NM_000487.4:c.996C>T, NM_000487.4:p.(=), NM_000487.4:p.S332S, NM_000487.5:c.1002C>T, NM_001085425.2:c.1002C>T, NM_001085426.2:c.1002C>T, NM_001085427.2:c.1002C>T, NM_001085428.2:c.744C>T, XR_109757.1:n.-2143C>TBenign08/12/2016 
65ARSAEx6NM_000487.5:c.1055A>Gp.Asn352Ser | p.N352SNM_000487.4:c.1049A>AG, NM_000487.4:c.1049A>G, NM_000487.4:p.Asn350Ser, NM_000487.4:p.N350S, NM_000487.5:c.1055A>G, NM_001085425.1:c.1049A>G, NM_001085425.2:c.1055A>G, NM_001085426.1:c.1049A>G, NM_001085426.2:c.1055A>G, NM_001085427.1:c.1049A>G, NM_001085427.2:c.1055A>G, NM_001085428.1:c.797A>G, NM_001085428.2:c.797A>G, XM_002343794.1:c.-401T>C, XR_109757.1:n.-2090A>GOther Reportable02/09/2021 
66ARSAEx6NM_000487.5:c.1107+31T>CNM_000487.4:c.1101+31T>C, NM_000487.4:c.1101+31T>CT, NM_000487.5:c.1107+31T>C, NM_001085425.2:c.1107+31T>C, NM_001085426.2:c.1107+31T>C, NM_001085427.2:c.1107+31T>C, NM_001085428.2:c.849+31T>CVOUS**
67ARSAEx7NM_000487.5:c.1108-32C>TNM_000487.4:c.1102-32C>CT, NM_000487.4:c.1102-32C>TBenign** 
68ARSAEx7NM_000487.5:c.1108-2A>GNM_000487.4:c.1102-2A>AG, NM_000487.4:c.1102-2A>G, NM_000487.5:c.1108-2A>G, NM_001085425.2:c.1108-2A>G, NM_001085426.2:c.1108-2A>G, NM_001085427.2:c.1108-2A>G, NM_001085428.2:c.850-2A>G, XR_109757.1:n.-1785A>GPathogenic11/01/2012 
69ARSAEx7NM_000487.5:c.1114C>Tp.Arg372Trp | p.R372WNM_000487.4:c.1108C>CT, NM_000487.4:c.1108C>T, NM_000487.4:p.Arg370Trp, NM_000487.4:p.R370W, NM_000487.5:c.1114C>T, NM_001085425.2:c.1114C>T, NM_001085426.2:c.1114C>T, NM_001085427.2:c.1114C>T, NM_001085428.2:c.856C>TPathogenic06/03/2013 
70ARSAEx7NM_000487.5:c.1115G>Cp.Arg372Pro | p.R372PNM_000487.4:c.1109G>C, NM_000487.5:c.1115G>C, NM_001085425.1:c.1109G>C, NM_001085425.2:c.1115G>C, NM_001085426.1:c.1109G>C, NM_001085426.2:c.1115G>C, NM_001085427.1:c.1109G>C, NM_001085427.2:c.1115G>C, NM_001085428.1:c.857G>C, NM_001085428.2:c.857G>C, XM_002343794.1:c.-715C>G, XR_109757.1:n.-1776G>CVOUS10/27/2016
71ARSAEx7NM_000487.5:c.1125_1126delCTNM_000487.4:c.1119_1120delCTPathogenic08/15/2012 
72ARSAEx7NM_000487.5:c.1149C>Tp.Asp383= | p.D383=NM_000487.4:c.1143C>CT, NM_000487.4:c.1143C>T, NM_000487.4:p.(=), NM_000487.4:p.D381D, NM_000487.5:c.1149C>T, NM_001085425.2:c.1149C>T, NM_001085426.2:c.1149C>T, NM_001085427.2:c.1149C>T, NM_001085428.2:c.891C>TBenign09/24/2013 
73ARSAEx7NM_000487.5:c.1150G>Ap.Glu384Lys | p.E384KNM_000487.4:c.1144G>A, NM_000487.5:c.1150G>A, NM_001085425.1:c.1144G>A, NM_001085425.2:c.1150G>A, NM_001085426.1:c.1144G>A, NM_001085426.2:c.1150G>A, NM_001085427.1:c.1144G>A, NM_001085427.2:c.1150G>A, NM_001085428.1:c.892G>A, NM_001085428.2:c.892G>A, XM_002343794.1:c.-750C>T, XR_109757.1:n.-1741G>APathogenic04/18/2013 
74ARSAEx7NM_000487.5:c.1174C>Tp.Arg392Trp | p.R392WNM_000487.4:c.1168C>CT, NM_000487.4:c.1168C>T, NM_000487.4:p.Arg390Trp, NM_000487.4:p.R390W, NM_000487.5:c.1174C>T, NM_001085425.2:c.1174C>T, NM_001085426.2:c.1174C>T, NM_001085427.2:c.1174C>T, NM_001085428.2:c.916C>T, XR_109757.1:n.-1717C>TVOUS05/23/2016
75ARSAEx7NM_000487.5:c.1175G>Ap.Arg392Gln | p.R392QNM_000487.4:c.1169G>A, NM_000487.5:c.1175G>A, NM_001085425.1:c.1169G>A, NM_001085425.2:c.1175G>A, NM_001085426.1:c.1169G>A, NM_001085426.2:c.1175G>A, NM_001085427.1:c.1169G>A, NM_001085427.2:c.1175G>A, NM_001085428.1:c.917G>A, NM_001085428.2:c.917G>A, p.R390Q, XM_002343794.1:c.-775C>T, XR_109757.1:n.-1716G>ALikely pathogenic05/21/2020 
76ARSAEx7NM_000487.5:c.1177A>Gp.Thr393Ala | p.T393ANM_000487.4:c.1171A>AG, NM_000487.4:c.1171A>G, NM_000487.4:p.(=), NM_000487.4:p.T391TVOUS**
77ARSAEx7NM_000487.5:c.1178C>Gp.Thr393Ser | p.T393SNM_000487.4:c.1172C>CG, NM_000487.4:c.1172C>G, NM_000487.4:p.T391S, NM_000487.4:p.Thr391Ser, NM_000487.5:c.1178C>G, NM_001085425.1:c.1172C>G, NM_001085425.2:c.1178C>G, NM_001085426.1:c.1172C>G, NM_001085426.2:c.1178C>G, NM_001085427.1:c.1172C>G, NM_001085427.2:c.1178C>G, NM_001085428.1:c.920C>G, NM_001085428.2:c.920C>G, XM_002343794.1:c.-778G>C, XR_109757.1:n.-1713C>GBenign07/29/2019 
78ARSAEx7NM_000487.5:c.1210+1G>ANM_000487.4:c.1204+1G>A, NM_000487.5:c.1210+1G>A, NM_001085425.1:c.1204+1G>A, NM_001085425.2:c.1210+1G>A, NM_001085426.1:c.1204+1G>A, NM_001085426.2:c.1210+1G>A, NM_001085427.1:c.1204+1G>A, NM_001085427.2:c.1210+1G>A, NM_001085428.1:c.952+1G>A, NM_001085428.2:c.952+1G>A, XM_002343794.1:c.-811C>T, XR_109757.1:n.-1680G>APathogenic06/13/2014 
79ARSAEx7NM_000487.5:c.1210+20C>GNM_000487.4:c.1204+20C>CG, NM_000487.4:c.1204+20C>G, NM_000487.5:c.1210+20C>G, NM_001085425.2:c.1210+20C>G, NM_001085426.2:c.1210+20C>G, NM_001085427.2:c.1210+20C>G, NM_001085428.2:c.952+20C>G, XR_109757.1:n.-1661C>GBenign07/29/2019 
80ARSAEx8NM_000487.5:c.*96A>GNM_000487.4:c.*96A>G, NM_000487.5:c.*96A>G, NM_001085425.1:c.*96A>G, NM_001085425.2:c.*96A>G, NM_001085426.1:c.*96A>G, NM_001085426.2:c.*96A>G, NM_001085427.1:c.*96A>G, NM_001085427.2:c.*96A>G, NM_001085428.1:c.*96A>G, NM_001085428.2:c.*96A>G, XM_002343794.1:c.-1340T>C, XR_109757.1:n.-1151A>GOther Reportable02/09/2021 
81ARSAEx8NM_000487.5:c.1211-10C>TNM_000487.4:c.1205-10C>T, NM_000487.5:c.1211-10C>T, NM_001085425.1:c.1205-10C>T, NM_001085425.2:c.1211-10C>T, NM_001085426.1:c.1205-10C>T, NM_001085426.2:c.1211-10C>T, NM_001085427.1:c.1205-10C>T, NM_001085427.2:c.1211-10C>T, NM_001085428.1:c.953-10C>T, NM_001085428.2:c.953-10C>T, XM_002343794.1:c.-915G>A, XR_109757.1:n.-1576C>TVOUS10/27/2016
82ARSAEx8NM_000487.5:c.1241delCNM_000487.4:c.1235delCPathogenic** 
83ARSAEx8NM_000487.5:c.1283C>Tp.Pro428Leu | p.P428LNM_000487.4:c.1277C>CT, NM_000487.4:c.1277C>T, NM_000487.4:p.P426L, NM_000487.4:p.Pro426Leu, NM_000487.5:c.1283C>T, NM_001085425.2:c.1283C>T, NM_001085426.2:c.1283C>T, NM_001085427.2:c.1283C>T, NM_001085428.2:c.1025C>T, p.P426L, XR_109757.1:n.-1494C>TPathogenic08/06/2015 
84ARSAEx8NM_000487.5:c.1334G>Tp.Gly445Val | p.G445VNM_000487.4:c.1328G>T, NM_000487.5:c.1334G>T, NM_001085425.1:c.1328G>T, NM_001085425.2:c.1334G>T, NM_001085426.1:c.1328G>T, NM_001085426.2:c.1334G>T, NM_001085427.1:c.1328G>T, NM_001085427.2:c.1334G>T, NM_001085428.1:c.1076G>T, NM_001085428.2:c.1076G>T, XM_002343794.1:c.-1048C>A, XR_109757.1:n.-1443G>TVOUS02/02/2015
85ARSAEx8NM_000487.5:c.1397C>Tp.Ala466Val | p.A466VNM_000487.4:c.1391C>T, NM_000487.5:c.1397C>T, NM_001085425.1:c.1391C>T, NM_001085425.2:c.1397C>T, NM_001085426.1:c.1391C>T, NM_001085426.2:c.1397C>T, NM_001085427.1:c.1391C>T, NM_001085427.2:c.1397C>T, NM_001085428.1:c.1139C>T, NM_001085428.2:c.1139C>T, XM_002343794.1:c.-1111G>A, XR_109757.1:n.-1380C>TOther Reportable08/25/2015 
86ARSAEx8NM_000487.5:c.1408_1418delGCAGCTGTGACNM_000487.4:c.1402_1412delGCAGCTGTGAC, NM_000487.5:c.1408_1418del11, NM_000487.5:c.1408_1418delGCAGCTGTGAC, NM_001085425.1:c.1402_1412delGCAGCTGTGAC, NM_001085425.2:c.1408_1418delGCAGCTGTGAC, NM_001085426.1:c.1402_1412delGCAGCTGTGAC, NM_001085426.2:c.1408_1418delGCAGCTGTGAC, NM_001085427.1:c.1402_1412delGCAGCTGTGAC, NM_001085427.2:c.1408_1418delGCAGCTGTGAC, NM_001085428.1:c.1150_1160delGCAGCTGTGAC, NM_001085428.2:c.1150_1160delGCAGCTGTGAC, XM_002343794.1:c.-1132_-1122delGTCACAGCTGC, XR_109757.1:n.-1369_-1359delGCAGCTGTGACPathogenic06/13/2014 
87ARSAEx8NM_000487.5:c.1423G>Ap.Gly475Ser | p.G475SNM_000487.4:c.1417G>A, NM_000487.4:c.1417G>AG, NM_000487.4:p.G473S, NM_000487.4:p.Gly473SerVOUS**
88ARSAEx8NM_000487.5:c.1447G>Ap.Glu483Lys | p.E483KNM_000487.4:c.1441G>A, NM_000487.5:c.1447G>A, NM_001085425.1:c.1441G>A, NM_001085425.2:c.1447G>A, NM_001085426.1:c.1441G>A, NM_001085426.2:c.1447G>A, NM_001085427.1:c.1441G>A, NM_001085427.2:c.1447G>A, NM_001085428.1:c.1189G>A, NM_001085428.2:c.1189G>A, XM_002343794.1:c.-1161C>T, XR_109757.1:n.-1330G>AVOUS05/22/2015
89ARSAEx8NM_000487.5:c.1471T>Cp.Cys491Arg | p.C491RNM_000487.4:c.1465T>C, NM_000487.5:c.1471T>C, NM_001085425.1:c.1465T>C, NM_001085425.2:c.1471T>C, NM_001085426.1:c.1465T>C, NM_001085426.2:c.1471T>C, NM_001085427.1:c.1465T>C, NM_001085427.2:c.1471T>C, NM_001085428.1:c.1213T>C, NM_001085428.2:c.1213T>C, XM_002343794.1:c.-1185A>G, XR_109757.1:n.-1306T>CVOUS10/27/2016
90ARSAEx8NM_000487.5:c.1492dupCNM_000487.4:c.1486_1487insC, NM_000487.4:c.1486dupC, NM_000487.5:c.1492_1493insC, NM_001085425.1:c.1486_1487insC, NM_001085425.2:c.1492_1493insC, NM_001085426.1:c.1486_1487insC, NM_001085426.2:c.1492_1493insC, NM_001085427.1:c.1486_1487insC, NM_001085427.2:c.1492_1493insC, NM_001085428.1:c.1234_1235insC, NM_001085428.2:c.1234_1235insC, XM_002343794.1:c.-1207_-1206insG, XR_109757.1:n.-1285_-1284insCPathogenic** 
91ARSAEx8NM_000487.5:c.1493G>Tp.Arg498Leu | p.R498LVOUS10/08/2019
92ARSAEx8NM_000487.5:c.1493G>Ap.Arg498His | p.R498HNM_000487.4:c.1487G>A, NM_000487.4:c.1487G>AG, NM_000487.4:p.Arg496His, NM_000487.4:p.R496H, NM_000487.5:c.1493G>A, NM_001085425.2:c.1493G>A, NM_001085426.2:c.1493G>A, NM_001085427.2:c.1493G>A, NM_001085428.2:c.1235G>ABenign09/24/2013 

* 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.