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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  
1SGCAEx1NM_000023.2:c.-5C>GLRG_203t1:c.-5C>G, NM_000023.2:c.-5C>G, NM_001135697.1:c.-5C>G, XM_005257574.1:c.-156C>G, XR_243679.1:n.158C>GVOUS09/26/2016
2SGCAEx1NM_000023.2:c.-8G>ALRG_203t1:c.-8G>A, NM_000023.2:c.-8G>A, NM_001135697.1:c.-8G>A, XM_005257574.1:c.-159G>A, XR_243679.1:n.155G>ABenign05/20/2016 
3SGCAEx1NM_000023.2:c.34G>Ap.Val12Met | p.V12MNM_000023.2:c.34G>A, NM_001135697.1:c.34G>A, XM_005257574.1:c.-118G>A, XR_243679.1:n.196G>AVOUS02/13/2019
4SGCAEx1NM_000023.2:c.37+2C>GLRG_203t1:c.37+2C>G, NM_000023.2:c.37+2C>G, NM_001135697.1:c.37+2C>G, XM_005257574.1:c.-115+2C>G, XR_243679.1:n.199+2C>GPathogenic05/04/2017 
5SGCAEx1NM_000023.2:c.37+6T>CLRG_203t1:c.37+6T>C, NM_000023.2:c.37+6T>C, NM_001135697.1:c.37+6T>C, XM_005257574.1:c.-115+6T>C, XR_243679.1:n.199+6T>CVOUS11/20/2018
6SGCAEx1NM_000023.2:c.37+10G>TLRG_203t1:c.37+10G>T, NM_000023.2:c.37+10G>T, NM_001135697.1:c.37+10G>T, XM_005257574.1:c.-115+10G>T, XR_243679.1:n.199+10G>TVOUS02/09/2018
7SGCAEx1NM_000023.2:c.37+23G>ABenign** 
8SGCAEx2NM_000023.2:c.38-46G>CLRG_203t1:c.38-46G>C, NM_000023.2:c.38-46G>C, NM_001135697.1:c.38-46G>C, NR_024192.1:n.*4106C>G, NR_024193.1:n.*4106C>G, XM_005257574.1:c.-114-46G>C, XR_243679.1:n.200-46G>CBenign02/10/2017 
9SGCAEx2NM_000023.2:c.58G>Tp.Asp20Tyr | p.D20YLRG_203t1:c.58G>T, NM_000023.2:c.58G>T, NM_001135697.1:c.58G>T, NR_024192.1:n.*4040C>A, NR_024193.1:n.*4040C>A, XM_005257574.1:c.-94G>T, XR_243679.1:n.220G>TVOUS10/25/2017
10SGCAEx2NM_000023.2:c.62C>Tp.Thr21Ile | p.T21ILRG_203t1:c.62C>T, NM_000023.2:c.62C>T, NM_001135697.1:c.62C>T, NR_024192.1:n.*4036G>A, NR_024193.1:n.*4036G>A, XM_005257574.1:c.-90C>T, XR_243679.1:n.224C>TVOUS07/25/2016
11SGCAEx2NM_000023.2:c.80C>Tp.Thr27Met | p.T27MNM_000023.2:c.80C>T, NM_001135697.1:c.80C>T, NR_024192.1:n.*4018G>A, NR_024193.1:n.*4018G>A, XM_005257574.1:c.-72C>T, XR_243679.1:n.242C>TVOUS04/19/2018
12SGCAEx2NM_000023.2:c.85C>Tp.His29Tyr | p.H29YLRG_203t1:c.85C>T, NM_000023.2:c.85C>T, NM_001135697.1:c.85C>T, NR_024192.1:n.*4013G>A, NR_024193.1:n.*4013G>A, XM_005257574.1:c.-67C>T, XR_243679.1:n.247C>TVOUS12/07/2016
13SGCAEx2NM_000023.2:c.89C>Tp.Pro30Leu | p.P30LNM_000023.2:c.89C>T, NM_001135697.1:c.89C>T, NR_024192.1:n.*4009G>A, NR_024193.1:n.*4009G>A, XM_005257574.1:c.-63C>T, XR_243679.1:n.251C>TVOUS01/22/2016
14SGCAEx2NM_000023.2:c.100C>Tp.Arg34Cys | p.R34CLRG_203t1:c.100C>T, NM_000023.2:c.100C>T, NM_001135697.1:c.100C>T, NR_024192.1:n.*3998G>A, NR_024193.1:n.*3998G>A, XM_005257574.1:c.-52C>T, XR_243679.1:n.262C>TPathogenic07/20/2018 
15SGCAEx2NM_000023.2:c.101G>Ap.Arg34His | p.R34HNM_000023.2:c.101G>A, NM_001135697.1:c.101G>A, NR_024192.1:n.*3997C>T, NR_024193.1:n.*3997C>T, XM_005257574.1:c.-51G>A, XR_243679.1:n.263G>APathogenic11/06/2018 
16SGCAEx2NM_000023.2:c.111G>Ap.Val37= | p.V37=LRG_203t1:c.111G>A, NM_000023.2:c.111G>A, NM_001135697.1:c.111G>A, NR_024192.1:n.*3987C>T, NR_024193.1:n.*3987C>T, XM_005257574.1:c.-41G>A, XR_243679.1:n.273G>AVOUS07/12/2017
17SGCAEx2NM_000023.2:c.115_116insTp.Thr39Ilefs*5 | p.T39IfsX5LRG_203t1:c.115_116insT, NM_000023.2:c.115_116insT, NM_001135697.1:c.115_116insT, NR_024192.1:n.*3982_*3983insA, NR_024193.1:n.*3982_*3983insA, XM_005257574.1:c.-37_-36insT, XR_243679.1:n.277_278insTPathogenic07/12/2017 
18SGCAEx2NM_000023.2:c.132G>Ap.Thr44= | p.T44=LRG_203t1:c.132G>A, NM_000023.2:c.132G>A, NM_001135697.1:c.132G>A, NR_024192.1:n.*3966C>T, NR_024193.1:n.*3966C>T, XM_005257574.1:c.-20G>A, XR_243679.1:n.294G>AVOUS06/30/2016
19SGCAEx2NM_000023.2:c.155T>Gp.Val52Gly | p.V52GNM_000023.2:c.155T>G, NM_001135697.1:c.155T>G, NR_024192.1:n.*3943A>C, NR_024193.1:n.*3943A>C, XM_005257574.1:c.4T>G, XR_243679.1:n.317T>GVOUS07/01/2015
20SGCAEx2NM_000023.2:c.157G>Ap.Ala53Thr | p.A53TLRG_203t1:c.157G>A, NM_000023.2:c.157G>A, NM_001135697.1:c.157G>A, NR_024192.1:n.*3941C>T, NR_024193.1:n.*3941C>T, XM_005257574.1:c.6G>A, XR_243679.1:n.319G>AVOUS07/30/2015
21SGCAEx3NM_000023.2:c.161delTp.Val54Alafs*157 | p.V54AfsX157LRG_203t1:c.161delT, NM_000023.2:c.161delT, NM_001135697.1:c.161delT, NR_024192.1:n.*3843delA, NR_024193.1:n.*3843delA, XM_005257574.1:c.6+98delT, XR_243679.1:n.323delTPathogenic08/25/2016 
22SGCAEx3NM_000023.2:c.168delCLRG_203t1:c.168delC, NM_000023.2:c.168delC, NM_001135697.1:c.168delC, NR_024192.1:n.*3836delG, NR_024193.1:n.*3836delG, XM_005257574.1:c.6+105delC, XR_243679.1:n.330delCPathogenic09/26/2016 
23SGCAEx3NM_000023.2:c.172G>Cp.Val58Leu | p.V58LLRG_203t1:c.172G>C, NM_000023.2:c.172G>C, NM_001135697.1:c.172G>C, NR_024192.1:n.*3832C>G, NR_024193.1:n.*3832C>G, XM_005257574.1:c.6+109G>C, XR_243679.1:n.334G>CVOUS11/16/2017
24SGCAEx3NM_000023.2:c.183dupCp.Tyr62Leufs*43 | p.Y62LfsX43LRG_203t1:c.183_184insC, LRG_203t1:c.183dupC, NM_000023.2:c.183_184insC, NM_000023.2:c.183dupC, NM_001135697.1:c.183_184insC, NM_001135697.1:c.183dupC, NR_024192.1:n.*3820_*3821insG, NR_024192.1:n.*3821dupG, NR_024193.1:n.*3820_*3821insG, NR_024193.1:n.*3821dupG, XM_005257574.1:c.6+120_6+121insC, XM_005257574.1:c.6+120dupC, XR_243679.1:n.345_346insC, XR_243679.1:n.345dupCPathogenic09/15/2016 
25SGCAEx3NM_000023.2:c.189C>Tp.His63= | p.H63=LRG_203t1:c.189C>T, NM_000023.2:c.189C>T, NM_001135697.1:c.189C>T, NR_024192.1:n.*3815G>A, NR_024193.1:n.*3815G>A, XM_005257574.1:c.6+126C>T, XR_243679.1:n.351C>TVOUS10/11/2016
26SGCAEx3NM_000023.2:c.190G>Ap.Ala64Thr | p.A64TLRG_203t1:c.190G>A, NM_000023.2:c.190G>A, NM_001135697.1:c.190G>A, NR_024192.1:n.*3814C>T, NR_024193.1:n.*3814C>T, XM_005257574.1:c.6+127G>A, XR_243679.1:n.352G>AVOUS08/24/2016
27SGCAEx3NM_000023.2:c.197T>Ap.Leu66His | p.L66HLRG_203t1:c.197T>A, NM_000023.2:c.197T>A, NM_001135697.1:c.197T>A, NR_024192.1:n.*3807A>T, NR_024193.1:n.*3807A>T, XM_005257574.1:c.6+134T>A, XR_243679.1:n.359T>AVOUS02/23/2016
28SGCAEx3NM_000023.2:c.203delGp.Gly68Aspfs*143 | p.G68DfsX143LRG_203t1:c.203delG, NM_000023.2:c.203delG, NM_001135697.1:c.203delG, NR_024192.1:n.*3801delC, NR_024193.1:n.*3801delC, XM_005257574.1:c.6+140delG, XR_243679.1:n.365delGPathogenic10/20/2017 
29SGCAEx3NM_000023.2:c.229C>Tp.Arg77Cys | p.R77CLRG_203t1:c.229C>T, NM_000023.2:c.229C>T, NM_001135697.1:c.229C>T, NR_024192.1:n.*3775G>A, NR_024193.1:n.*3775G>A, XM_005257574.1:c.6+166C>T, XR_243679.1:n.391C>TPathogenic06/26/2018 
30SGCAEx3NM_000023.2:c.230G>Ap.Arg77His | p.R77HNM_000023.2:c.230G>A, NM_001135697.1:c.230G>A, NR_024192.1:n.*3774C>T, NR_024193.1:n.*3774C>T, XM_005257574.1:c.6+167G>A, XR_243679.1:n.392G>AVOUS02/06/2015
31SGCAEx3NM_000023.2:c.241C>Tp.Arg81Cys | p.R81CLRG_203t1:c.241C>T, NM_000023.2:c.241C>T, NM_001135697.1:c.241C>T, NR_024192.1:n.*3763G>A, NR_024193.1:n.*3763G>A, XM_005257574.1:c.6+178C>T, XR_243679.1:n.403C>TVOUS10/06/2015
32SGCAEx3NM_000023.2:c.242G>Ap.Arg81His | p.R81HLRG_203t1:c.242G>A, NM_000023.2:c.242G>A, NM_001135697.1:c.242G>A, NR_024192.1:n.*3762C>T, NR_024193.1:n.*3762C>T, XM_005257574.1:c.6+179G>A, XR_243679.1:n.404G>AVOUS05/07/2018
33SGCAEx3NM_000023.2:c.270C>Tp.Tyr90= | p.Y90=LRG_203t1:c.270C>T, NM_000023.2:c.270C>T, NM_001135697.1:c.270C>T, NR_024192.1:n.*3734G>A, NR_024193.1:n.*3734G>A, XM_005257574.1:c.6+207C>T, XR_243679.1:n.432C>TVOUS08/16/2016
34SGCAEx3NM_000023.2:c.272G>Ap.Gly91Asp | p.G91DLRG_203t1:c.272G>A, NM_000023.2:c.272G>A, NM_001135697.1:c.272G>A, NR_024192.1:n.*3732C>T, NR_024193.1:n.*3732C>T, XM_005257574.1:c.6+209G>A, XR_243679.1:n.434G>AVOUS08/25/2016
35SGCAEx3NM_000023.2:c.292C>Tp.Arg98Cys | p.R98CNM_000023.2:c.292C>T, NM_001135697.1:c.292C>T, NR_024192.1:n.*3712G>A, NR_024193.1:n.*3712G>A, XM_005257574.1:c.6+229C>T, XR_243679.1:n.454C>TPathogenic06/12/2018 
36SGCAEx3NM_000023.2:c.293G>Ap.Arg98His | p.R98HNM_000023.2:c.293G>A, NM_001135697.1:c.293G>A, NR_024192.1:n.*3711C>T, NR_024193.1:n.*3711C>T, XM_005257574.1:c.6+230G>A, XR_243679.1:n.455G>APathogenic06/12/2018 
37SGCAEx3NM_000023.2:c.293G>Cp.Arg98Pro | p.R98PNM_000023.2:c.293G>C, NM_001135697.1:c.293G>C, NR_024192.1:n.*3711C>G, NR_024193.1:n.*3711C>G, XM_005257574.1:c.6+230G>C, XR_243679.1:n.455G>CVOUS09/04/2015
38SGCAEx3NM_000023.2:c.307A>Gp.Ile103Val | p.I103VNM_000023.2:c.307A>G, NM_001135697.1:c.307A>G, NR_024192.1:n.*3697T>C, NR_024193.1:n.*3697T>C, XM_005257574.1:c.7-216A>G, XR_243679.1:n.469A>GLikely pathogenic05/31/2018 
39SGCAEx3NM_000023.2:c.312G>Ap.Glu104= | p.E104=LRG_203t1:c.312G>A, NM_000023.2:c.312G>A, NM_001135697.1:c.312G>A, NR_024192.1:n.*3692C>T, NR_024193.1:n.*3692C>T, XM_005257574.1:c.7-211G>A, XR_243679.1:n.474G>AVOUS09/11/2016
40SGCAEx3NM_000023.2:c.312+6G>ALRG_203t1:c.312+6G>A, NM_000023.2:c.312+6G>A, NM_001135697.1:c.312+6G>A, NR_024192.1:n.*3686C>T, NR_024193.1:n.*3686C>T, XM_005257574.1:c.7-205G>A, XR_243679.1:n.474+6G>AVOUS01/30/2017
41SGCAEx4NM_000023.2:c.313-39C>ANM_000023.2:c.313-39C>A, NM_001135697.1:c.313-39C>A, NR_024192.1:n.*3520G>T, NR_024193.1:n.*3520G>TBenign** 
42SGCAEx4NM_000023.2:c.313-10C>TNM_000023.2:c.313-10C>T, NM_001135697.1:c.313-10C>T, NR_024192.1:n.*3491G>A, NR_024193.1:n.*3491G>A, XM_005257574.1:c.7-10C>T, XR_243679.1:n.475-10C>TVOUS05/05/2015
43SGCAEx4NM_000023.2:c.317_318delCAp.Thr106Serfs*8 | p.T106SfsX8LRG_203t1:c.317_318delCA, NM_000023.2:c.317_318delCA, NM_001135697.1:c.317_318delCA, NR_024192.1:n.*3476_*3477delTG, NR_024193.1:n.*3476_*3477delTG, XM_005257574.1:c.11_12delCA, XR_243679.1:n.479_480delCAPathogenic05/07/2018 
44SGCAEx4NM_000023.2:c.320C>Tp.Ala107Val | p.A107VNM_000023.2:c.320C>T, NM_001135697.1:c.320C>T, NR_024192.1:n.*3474G>A, NR_024193.1:n.*3474G>A, XM_005257574.1:c.14C>T, XR_243679.1:n.482C>TVOUS11/23/2014
45SGCAEx4NM_000023.2:c.322_325dupTACALRG_203t1:c.325_326insTACA, NM_000023.2:c.325_326insTACA, NM_001135697.1:c.325_326insTACA, NR_024192.1:n.*3468_*3469insTGTA, NR_024193.1:n.*3468_*3469insTGTA, XM_005257574.1:c.19_20insTACA, XR_243679.1:n.487_488insTACALikely pathogenic07/18/2016 
46SGCAEx4NM_000023.2:c.328C>Tp.Arg110Trp | p.R110WNM_000023.2:c.328C>T, NM_001135697.1:c.328C>T, NR_024192.1:n.*3466G>A, NR_024193.1:n.*3466G>A, XR_243679.1:n.490C>TVOUS01/22/2016
47SGCAEx4NM_000023.2:c.329G>Ap.Arg110Gln | p.R110QLRG_203t1:c.329G>A, NM_000023.2:c.329G>A, NM_001135697.1:c.329G>A, NR_024192.1:n.*3465C>T, NR_024193.1:n.*3465C>T, XM_005257574.1:c.23G>A, XR_243679.1:n.491G>ABenign11/30/2016 
48SGCAEx4NM_000023.2:c.350G>Ap.Arg117Gln | p.R117QNM_000023.2:c.350G>A, NM_001135697.1:c.350G>A, NR_024192.1:n.*3444C>T, NR_024193.1:n.*3444C>T, XM_005257574.1:c.44G>A, XR_243679.1:n.512G>AVOUS06/05/2017
49SGCAEx4NM_000023.2:c.359T>Gp.Leu120Arg | p.L120RNM_000023.2:c.359T>G, NM_001135697.1:c.359T>G, NR_024192.1:n.*3435A>C, NR_024193.1:n.*3435A>C, XM_005257574.1:c.53T>G, XR_243679.1:n.521T>GVOUS07/23/2015
50SGCAEx4NM_000023.2:c.364C>Gp.Leu122Val | p.L122VLRG_203t1:c.364C>G, NM_000023.2:c.364C>G, NM_001135697.1:c.364C>G, NR_024192.1:n.*3430G>C, NR_024193.1:n.*3430G>C, XM_005257574.1:c.58C>G, XR_243679.1:n.526C>GVOUS11/21/2017
51SGCAEx4NM_000023.2:c.366G>Ap.Leu122= | p.L122=LRG_203t1:c.366G>A, NM_000023.2:c.366G>A, NM_001135697.1:c.366G>A, NR_024192.1:n.*3428C>T, NR_024193.1:n.*3428C>T, XM_005257574.1:c.60G>A, XR_243679.1:n.528G>AVOUS10/25/2016
52SGCAEx4NM_000023.2:c.371T>Cp.Ile124Thr | p.I124TNM_000023.2:c.371T>C, NM_001135697.1:c.371T>C, NR_024192.1:n.*3423A>G, NR_024193.1:n.*3423A>G, XM_005257574.1:c.65T>C, XR_243679.1:n.533T>CPathogenic04/02/2018 
53SGCAEx4NM_000023.2:c.385G>Ap.Gly129Ser | p.G129SNM_000023.2:c.385G>A, NM_001135697.1:c.385G>A, NR_024192.1:n.*3409C>T, NR_024193.1:n.*3409C>T, XM_005257574.1:c.79G>A, XR_243679.1:n.547G>AVOUS10/16/2015
54SGCAEx5NM_000023.2:c.402C>Gp.Tyr134* | p.Y134XNM_000023.2:c.402C>G, NM_001135697.1:c.402C>G, NR_024192.1:n.*3038G>C, NR_024193.1:n.*3038G>C, XM_005257574.1:c.96C>G, XR_243679.1:n.564C>GPathogenic12/08/2015 
55SGCAEx5NM_000023.2:c.402C>Tp.Tyr134= | p.Y134=NM_000023.2:c.402C>T, NM_001135697.1:c.402C>T, NR_024192.1:n.*3038G>A, NR_024193.1:n.*3038G>A, XM_005257574.1:c.96C>T, XR_243679.1:n.564C>TVOUS12/15/2015
56SGCAEx5NM_000023.2:c.403C>Tp.Gln135* | p.Q135XNM_000023.2:c.403C>T, NM_001135697.1:c.403C>T, NR_024192.1:n.*3037G>A, NR_024193.1:n.*3037G>A, XM_005257574.1:c.97C>T, XR_243679.1:n.565C>TPathogenic01/25/2016 
57SGCAEx5NM_000023.2:c.408C>Tp.Ala136= | p.A136=LRG_203t1:c.408C>T, NM_000023.2:c.408C>T, NM_001135697.1:c.408C>T, NR_024192.1:n.*3032G>A, NR_024193.1:n.*3032G>A, XM_005257574.1:c.102C>T, XR_243679.1:n.570C>TVOUS05/24/2016
58SGCAEx5NM_000023.2:c.409G>Ap.Glu137Lys | p.E137KNM_000023.2:c.409G>A, NM_001135697.1:c.409G>A, NR_024192.1:n.*3031C>T, NR_024193.1:n.*3031C>T, XM_005257574.1:c.103G>A, XR_243679.1:n.571G>APathogenic07/12/2017 
59SGCAEx5NM_000023.2:c.421C>Ap.Arg141Ser | p.R141SNM_000023.2:c.421C>A, NM_001135697.1:c.421C>A, NR_024192.1:n.*3019G>T, NR_024193.1:n.*3019G>T, XM_005257574.1:c.115C>A, XR_243679.1:n.583C>AVOUS03/08/2018
60SGCAEx5NM_000023.2:c.450C>Tp.Pro150= | p.P150=NM_000023.2:c.450C>T, NM_001135697.1:c.450C>T, NR_024192.1:n.*2990G>A, NR_024193.1:n.*2990G>A, XM_005257574.1:c.144C>T, XR_243679.1:n.612C>TVOUS09/09/2015
61SGCAEx5NM_000023.2:c.468C>Tp.Arg156= | p.R156=NM_000023.2:c.468C>T, NM_001135697.1:c.468C>T, NR_024192.1:n.*2972G>A, NR_024193.1:n.*2972G>A, XM_005257574.1:c.162C>T, XR_243679.1:n.630C>TVOUS02/03/2016
62SGCAEx5NM_000023.2:c.483_484delGGinsCTp.Leu161_Gly162delinsPheTrp | p.L161_G162delinsFWLRG_203t1:c.483_484delinsCT, NM_000023.2:c.483_484delinsCT, NM_001135697.1:c.483_484delinsCT, NR_024192.1:n.*2956_*2957delinsAG, NR_024193.1:n.*2956_*2957delinsAG, XM_005257574.1:c.177_178delinsCT, XR_243679.1:n.645_646delinsCTVOUS04/16/2018
63SGCAEx5NM_000023.2:c.489delALRG_203t1:c.489delA, NM_000023.2:c.489delA, NM_001135697.1:c.489delA, NR_024192.1:n.*2951delT, NR_024193.1:n.*2951delT, XM_005257574.1:c.183delA, XR_243679.1:n.651delAPathogenic09/06/2016 
64SGCAEx5NM_000023.2:c.502G>Ap.Gly168Arg | p.G168RLRG_203t1:c.502G>A, NM_000023.2:c.502G>A, NM_001135697.1:c.502G>A, NR_024192.1:n.*2938C>T, NR_024193.1:n.*2938C>T, XM_005257574.1:c.196G>A, XR_243679.1:n.664G>AVOUS11/21/2017
65SGCAEx5NM_000023.2:c.518T>Cp.Leu173Pro | p.L173PNM_000023.2:c.518T>C, NM_001135697.1:c.518T>C, NR_024192.1:n.*2922A>G, NR_024193.1:n.*2922A>G, XM_005257574.1:c.212T>C, XR_243679.1:n.680T>CPathogenic12/16/2015 
66SGCAEx5NM_000023.2:c.528C>Tp.Thr176= | p.T176=Benign** 
67SGCAEx5NM_000023.2:c.530delCLRG_203t1:c.530delC, NM_000023.2:c.530delC, NM_001135697.1:c.530delC, NR_024192.1:n.*2910delG, NR_024193.1:n.*2910delG, XM_005257574.1:c.224delC, XR_243679.1:n.692delCPathogenic08/25/2016 
68SGCAEx5NM_000023.2:c.541C>Ap.Arg181Ser | p.R181SLRG_203t1:c.541C>A, NM_000023.2:c.541C>A, NM_001135697.1:c.541C>A, NR_024192.1:n.*2899G>T, NR_024193.1:n.*2899G>T, XM_005257574.1:c.235C>A, XR_243679.1:n.703C>AVOUS06/13/2016
69SGCAEx5NM_000023.2:c.541C>Tp.Arg181Cys | p.R181CLRG_203t1:c.541C>T, NM_000023.2:c.541C>T, NM_001135697.1:c.541C>T, NR_024192.1:n.*2899G>A, NR_024193.1:n.*2899G>A, XM_005257574.1:c.235C>T, XR_243679.1:n.703C>TVOUS06/19/2018
70SGCAEx5NM_000023.2:c.555C>Ap.Val185= | p.V185=LRG_203t1:c.555C>A, NM_000023.2:c.555C>A, NM_001135697.1:c.555C>A, NR_024192.1:n.*2885G>T, NR_024193.1:n.*2885G>T, XM_005257574.1:c.249C>A, XR_243679.1:n.717C>AVOUS08/29/2016
71SGCAEx5NM_000023.2:c.559C>Tp.Leu187Phe | p.L187FLRG_203t1:c.559C>T, NM_000023.2:c.559C>T, NM_001135697.1:c.559C>T, NR_024192.1:n.*2881G>A, NR_024193.1:n.*2881G>A, XM_005257574.1:c.253C>T, XR_243679.1:n.721C>TVOUS08/08/2016
72SGCAEx5NM_000023.2:c.574C>Tp.Arg192* | p.R192XLRG_203t1:c.574C>T, NM_000023.2:c.574C>T, NM_001135697.1:c.574C>T, NR_024192.1:n.*2866G>A, NR_024193.1:n.*2866G>A, XM_005257574.1:c.268C>T, XR_243679.1:n.736C>TPathogenic12/05/2017 
73SGCAEx5NM_000023.2:c.582A>Cp.Glu194Asp | p.E194DLRG_203t1:c.582A>C, NM_000023.2:c.582A>C, NM_001135697.1:c.582A>C, NR_024192.1:n.*2858T>G, NR_024193.1:n.*2858T>G, XM_005257574.1:c.276A>C, XR_243679.1:n.744A>CVOUS04/27/2018
74SGCAEx6NM_000023.2:c.585-8G>ALRG_203t1:c.585-8G>A, NM_000023.2:c.585-8G>A, NM_001135697.1:c.584+512G>A, NR_024192.1:n.*2344C>T, NR_024193.1:n.*2344C>T, XM_005257574.1:c.279-8G>A, XR_243679.1:n.747-8G>AVOUS02/28/2018
75SGCAEx6NM_000023.2:c.585-1G>ALRG_203t1:c.585-1G>A, NM_000023.2:c.585-1G>A, NM_001135697.1:c.584+519G>A, NR_024192.1:n.*2337C>T, NR_024193.1:n.*2337C>T, XM_005257574.1:c.279-1G>A, XR_243679.1:n.747-1G>APathogenic10/10/2016 
76SGCAEx6NM_000023.2:c.586G>Ap.Val196Ile | p.V196INM_000023.2:c.586G>A, NM_001135697.1:c.584+521G>A, NR_024192.1:n.*2335C>T, NR_024193.1:n.*2335C>T, XM_005257574.1:c.280G>A, XR_243679.1:n.748G>AVOUS02/02/2016
77SGCAEx6NM_000023.2:c.614C>Ap.Pro205His | p.P205HLRG_203t1:c.614C>A, NM_000023.2:c.614C>A, NM_001135697.1:c.584+549C>A, NR_024192.1:n.*2307G>T, NR_024193.1:n.*2307G>T, XM_005257574.1:c.308C>A, XR_243679.1:n.776C>ALikely pathogenic07/04/2018 
78SGCAEx6NM_000023.2:c.621T>Ap.Ser207= | p.S207=VOUS**
79SGCAEx6NM_000023.2:c.623C>Tp.Thr208Ile | p.T208INM_000023.2:c.623C>T, NM_001135697.1:c.584+558C>T, NR_024192.1:n.*2298G>A, NR_024193.1:n.*2298G>A, XM_005257574.1:c.317C>T, XR_243679.1:n.785C>TVOUS01/23/2016
80SGCAEx6NM_000023.2:c.626G>Ap.Cys209Tyr | p.C209YLRG_203t1:c.626G>A, NM_000023.2:c.626G>A, NM_001135697.1:c.584+561G>A, NR_024192.1:n.*2295C>T, NR_024193.1:n.*2295C>T, XM_005257574.1:c.320G>A, XR_243679.1:n.788G>AVOUS12/21/2016
81SGCAEx6NM_000023.2:c.650A>Gp.Asp217Gly | p.D217GLRG_203t1:c.650A>G, NM_000023.2:c.650A>G, NM_001135697.1:c.584+585A>G, NR_024192.1:n.*2271T>C, NR_024193.1:n.*2271T>C, XM_005257574.1:c.344A>G, XR_243679.1:n.812A>GVOUS12/07/2017
82SGCAEx6NM_000023.2:c.657C>Tp.His219= | p.H219=LRG_203t1:c.657C>T, NM_000023.2:c.657C>T, NM_001135697.1:c.584+592C>T, NR_024192.1:n.*2264G>A, NR_024193.1:n.*2264G>A, XM_005257574.1:c.351C>T, XR_243679.1:n.819C>TVOUS09/05/2016
83SGCAEx6NM_000023.2:c.661C>Tp.Arg221Cys | p.R221CLRG_203t1:c.661C>T, NM_000023.2:c.661C>T, NM_001135697.1:c.584+596C>T, NR_024192.1:n.*2260G>A, NR_024193.1:n.*2260G>A, XM_005257574.1:c.355C>T, XR_243679.1:n.823C>TVOUS01/09/2017
84SGCAEx6NM_000023.2:c.662G>Cp.Arg221Pro | p.R221PLRG_203t1:c.662G>C, NM_000023.2:c.662G>C, NM_001135697.1:c.584+597G>C, NR_024192.1:n.*2259C>G, NR_024193.1:n.*2259C>G, XM_005257574.1:c.356G>C, XR_243679.1:n.824G>CVOUS10/10/2016
85SGCAEx6NM_000023.2:c.662G>Ap.Arg221His | p.R221HLRG_203t1:c.662G>A, NM_000023.2:c.662G>A, NM_001135697.1:c.584+597G>A, NR_024192.1:n.*2259C>T, NR_024193.1:n.*2259C>T, XM_005257574.1:c.356G>A, XR_243679.1:n.824G>ALikely benign05/23/2017 
86SGCAEx6NM_000023.2:c.674G>Ap.Gly225Asp | p.G225DLRG_203t1:c.674G>A, NM_000023.2:c.674G>A, NM_001135697.1:c.584+609G>A, NR_024192.1:n.*2247C>T, NR_024193.1:n.*2247C>T, XM_005257574.1:c.368G>A, XR_243679.1:n.836G>AVOUS09/06/2016
87SGCAEx6NM_000023.2:c.676C>Tp.Gln226* | p.Q226XLRG_203t1:c.676C>T, NM_000023.2:c.676C>T, NM_001135697.1:c.584+611C>T, NR_024192.1:n.*2245G>A, NR_024193.1:n.*2245G>A, XM_005257574.1:c.370C>T, XR_243679.1:n.838C>TPathogenic05/31/2018 
88SGCAEx6NM_000023.2:c.680C>Gp.Pro227Arg | p.P227RNM_000023.2:c.680C>G, NM_001135697.1:c.584+615C>G, NR_024192.1:n.*2241G>C, NR_024193.1:n.*2241G>C, XM_005257574.1:c.374C>G, XR_243679.1:n.842C>GVOUS11/14/2017
89SGCAEx6NM_000023.2:c.690G>Cp.Leu230= | p.L230=NM_000023.2:c.690G>C, NM_001135697.1:c.584+625G>C, NR_024192.1:n.*2231C>G, NR_024193.1:n.*2231C>G, XM_005257574.1:c.384G>C, XR_243679.1:n.852G>CVOUS01/25/2017
90SGCAEx6NM_000023.2:c.700G>Ap.Asp234Asn | p.D234NNM_000023.2:c.700G>A, NM_001135697.1:c.584+635G>A, NR_024192.1:n.*2221C>T, NR_024193.1:n.*2221C>T, XM_005257574.1:c.394G>A, XR_243679.1:n.862G>AVOUS06/13/2017
91SGCAEx6NM_000023.2:c.716A>Gp.His239Arg | p.H239RNM_000023.2:c.716A>G, NM_001135697.1:c.584+651A>G, NR_024192.1:n.*2205T>C, NR_024193.1:n.*2205T>CVOUS08/20/2013
92SGCAEx6NM_000023.2:c.724G>Ap.Val242Ile | p.V242ILRG_203t1:c.724G>A, NM_000023.2:c.724G>A, NM_001135697.1:c.584+659G>A, NR_024192.1:n.*2197C>T, NR_024193.1:n.*2197C>T, XM_005257574.1:c.418G>A, XR_243679.1:n.886G>AVOUS11/30/2016
93SGCAEx6NM_000023.2:c.737A>Gp.Asn246Ser | p.N246SNM_000023.2:c.737A>G, NM_001135697.1:c.584+672A>G, NR_024192.1:n.*2184T>C, NR_024193.1:n.*2184T>C, XM_005257574.1:c.431A>G, XR_243679.1:n.899A>GVOUS10/23/2015
94SGCAEx6NM_000023.2:c.739G>Ap.Val247Met | p.V247MLRG_203t1:c.739G>A, NM_000023.2:c.739G>A, NM_001135697.1:c.584+674G>A, NR_024192.1:n.*2182C>T, NR_024193.1:n.*2182C>T, XM_005257574.1:c.433G>A, XR_243679.1:n.901G>APathogenic04/16/2018 
95SGCAEx6NM_000023.2:c.747+1G>ALRG_203t1:c.747+1G>A, NM_000023.2:c.747+1G>A, NM_001135697.1:c.584+683G>A, NR_024192.1:n.*2173C>T, NR_024193.1:n.*2173C>T, XM_005257574.1:c.441+1G>A, XR_243679.1:n.909+1G>APathogenic03/03/2016 
96SGCAEx7NM_000023.2:c.748-10C>ANM_000023.2:c.748-10C>A, NM_001135697.1:c.585-507C>A, NR_024192.1:n.*1295G>T, NR_024193.1:n.*1295G>T, XM_005257574.1:c.442-10C>A, XR_243679.1:n.910-507C>AVOUS10/29/2015
97SGCAEx7NM_000023.2:c.748-3C>TNM_000023.2:c.748-3C>T, NM_001135697.1:c.585-500C>T, NR_024192.1:n.*1288G>A, NR_024193.1:n.*1288G>A, XM_005257574.1:c.442-3C>T, XR_243679.1:n.910-500C>TVOUS05/05/2015
98SGCAEx7NM_000023.2:c.750G>Ap.Val250= | p.V250=LRG_203t1:c.750G>A, NM_000023.2:c.750G>A, NM_001135697.1:c.585-495G>A, NR_024192.1:n.*1283C>T, NR_024193.1:n.*1283C>T, XM_005257574.1:c.444G>A, XR_243679.1:n.910-495G>AVOUS11/06/2018
99SGCAEx7NM_000023.2:c.764C>Tp.Pro255Leu | p.P255LNM_000023.2:c.764C>T, NM_001135697.1:c.585-481C>T, NR_024192.1:n.*1269G>A, NR_024193.1:n.*1269G>A, XM_005257574.1:c.458C>T, XR_243679.1:n.910-481C>TVOUS01/19/2017
100SGCAEx7NM_000023.2:c.766G>Ap.Glu256Lys | p.E256KLRG_203t1:c.766G>A, NM_000023.2:c.766G>A, NM_001135697.1:c.585-479G>A, NR_024192.1:n.*1267C>T, NR_024193.1:n.*1267C>T, XM_005257574.1:c.460G>A, XR_243679.1:n.910-479G>AVOUS03/23/2017
101SGCAEx7NM_000023.2:c.770delCLRG_203t1:c.770delC, NM_000023.2:c.770delC, NM_001135697.1:c.585-475delC, NR_024192.1:n.*1263delG, NR_024193.1:n.*1263delG, XM_005257574.1:c.464delC, XR_243679.1:n.910-475delCPathogenic06/09/2016 
102SGCAEx7NM_000023.2:c.789C>Ap.Thr263= | p.T263=NM_000023.2:c.789C>A, NM_001135697.1:c.585-456C>A, NR_024192.1:n.*1244G>T, NR_024193.1:n.*1244G>T, XM_005257574.1:c.483C>A, XR_243679.1:n.910-456C>AVOUS12/09/2014
103SGCAEx7NM_000023.2:c.811C>Tp.His271Tyr | p.H271YLRG_203t1:c.811C>T, NM_000023.2:c.811C>T, NM_001135697.1:c.585-434C>T, NR_024192.1:n.*1222G>A, NR_024193.1:n.*1222G>A, XM_005257574.1:c.505C>T, XR_243679.1:n.910-434C>TVOUS06/16/2016
104SGCAEx7NM_000023.2:c.819G>Tp.Pro273= | p.P273=NM_000023.2:c.819G>T, NM_001135697.1:c.585-426G>T, NR_024192.1:n.*1214C>A, NR_024193.1:n.*1214C>A, XM_005257574.1:c.513G>T, XR_243679.1:n.910-426G>TVOUS02/15/2016
105SGCAEx7NM_000023.2:c.843C>Ap.Ala281= | p.A281=NM_000023.2:c.843C>A, NM_001135697.1:c.585-402C>A, NR_024192.1:n.*1190G>T, NR_024193.1:n.*1190G>T, XM_005257574.1:c.537C>A, XR_243679.1:n.910-402C>AVOUS10/13/2015
106SGCAEx7NM_000023.2:c.847G>Cp.Asp283His | p.D283HLRG_203t1:c.847G>C, NM_000023.2:c.847G>C, NM_001135697.1:c.585-398G>C, NR_024192.1:n.*1186C>G, NR_024193.1:n.*1186C>G, XM_005257574.1:c.541G>C, XR_243679.1:n.910-398G>CVOUS07/03/2018
107SGCAEx7NM_000023.2:c.850C>Tp.Arg284Cys | p.R284CNM_000023.2:c.850C>T, NM_001135697.1:c.585-395C>T, NR_024192.1:n.*1183G>A, NR_024193.1:n.*1183G>A, XM_005257574.1:c.544C>T, XR_243679.1:n.910-395C>TPathogenic11/28/2017 
108SGCAEx7NM_000023.2:c.861G>Ap.Leu287= | p.L287=LRG_203t1:c.861G>A, NM_000023.2:c.861G>A, NM_001135697.1:c.585-384G>A, NR_024192.1:n.*1172C>T, NR_024193.1:n.*1172C>T, XM_005257574.1:c.555G>A, XR_243679.1:n.910-384G>AVOUS06/15/2018
109SGCAEx7NM_000023.2:c.882C>Ap.Leu294= | p.L294=LRG_203t1:c.882C>A, NM_000023.2:c.882C>A, NM_001135697.1:c.585-363C>A, NR_024192.1:n.*1151G>T, NR_024193.1:n.*1151G>T, XM_005257574.1:c.576C>A, XR_243679.1:n.910-363C>AVOUS07/25/2016
110SGCAEx7NM_000023.2:c.892delCp.Leu298Cysfs*23 | p.L298CfsX23LRG_203t1:c.892delC, NM_000023.2:c.892delC, NM_001135697.1:c.585-353delC, NR_024192.1:n.*1141delG, NR_024193.1:n.*1141delG, XM_005257574.1:c.586delC, XR_243679.1:n.910-353delCPathogenic09/06/2016 
111SGCAEx7NM_000023.2:c.929A>Gp.Tyr310Cys | p.Y310CNM_000023.2:c.929A>G, NM_001135697.1:c.585-316A>G, NR_024192.1:n.*1104T>C, NR_024193.1:n.*1104T>C, XM_005257574.1:c.623A>G, XR_243679.1:n.910-316A>GVOUS02/14/2018
112SGCAEx7NM_000023.2:c.933C>Tp.Val311= | p.V311=NM_000023.2:c.933C>T, NM_001135697.1:c.585-312C>T, NR_024192.1:n.*1100G>A, NR_024193.1:n.*1100G>ABenign02/16/2014 
113SGCAEx7NM_000023.2:c.946C>Tp.Arg316Trp | p.R316WLRG_203t1:c.946C>T, NM_000023.2:c.946C>T, NM_001135697.1:c.585-299C>T, NR_024192.1:n.*1087G>A, NR_024193.1:n.*1087G>A, XM_005257574.1:c.640C>T, XR_243679.1:n.910-299C>TVOUS02/05/2021
114SGCAEx9NM_000023.2:c.*6T>CLRG_203t1:c.*6T>C, NM_000023.2:c.*6T>C, NM_001135697.1:c.*6T>C, NR_024192.1:n.-2967A>G, NR_024193.1:n.-2967A>G, XR_243679.1:n.1123T>CBenign07/06/2015 
115SGCAEx9NM_000023.2:c.984-10G>ALRG_203t1:c.984-10G>A, NM_000023.2:c.984-10G>A, NM_001135697.1:c.612-10G>A, NR_024192.1:n.-2771C>T, NR_024193.1:n.-2771C>T, XM_005257574.1:c.678-10G>A, XR_243679.1:n.937-10G>AVOUS03/29/2017
116SGCAEx9NM_000023.2:c.988C>Gp.Gln330Glu | p.Q330ENM_000023.2:c.988C>G, NM_001135697.1:c.616C>G, NR_024192.1:n.-2785G>C, NR_024193.1:n.-2785G>C, XM_005257574.1:c.682C>G, XR_243679.1:n.941C>GVOUS01/15/2016
117SGCAEx9NM_000023.2:c.1015G>Ap.Gly339Arg | p.G339RNM_000023.2:c.1015G>A, NM_001135697.1:c.643G>A, NR_024192.1:n.-2812C>T, NR_024193.1:n.-2812C>T, XM_005257574.1:c.709G>A, XR_243679.1:n.968G>AVOUS11/13/2018
118SGCAEx9NM_000023.2:c.1027G>Ap.Glu343Lys | p.E343KNM_000023.2:c.1027G>A, NM_001135697.1:c.655G>A, NR_024192.1:n.-2824C>T, NR_024193.1:n.-2824C>T, XM_005257574.1:c.721G>A, XR_243679.1:n.980G>AVOUS01/22/2016
119SGCAEx9NM_000023.2:c.1039_1042dupATGGp.Ala348Aspfs*23 | p.A348DfsX23LRG_203t1:c.1039_1042dupATGG, NM_000023.2:c.1039_1042dupATGG, NM_001135697.1:c.667_670dupATGG, NR_024192.1:n.-2839_-2836dupCCAT, NR_024193.1:n.-2839_-2836dupCCAT, XM_005257574.1:c.733_736dupATGG, XR_243679.1:n.992_995dupATGGPathogenic12/13/2017 
120SGCAEx9NM_000023.2:c.1052G>Ap.Arg351His | p.R351HLRG_203t1:c.1052G>A, NM_000023.2:c.1052G>A, NM_001135697.1:c.680G>A, NR_024192.1:n.-2849C>T, NR_024193.1:n.-2849C>T, XM_005257574.1:c.746G>A, XR_243679.1:n.1005G>AVOUS07/11/2016
121SGCAEx9NM_000023.2:c.1076C>Ap.Thr359Asn | p.T359NLRG_203t1:c.1076C>A, NM_000023.2:c.1076C>A, NM_001135697.1:c.704C>A, NR_024192.1:n.-2873G>T, NR_024193.1:n.-2873G>T, XM_005257574.1:c.770C>A, XR_243679.1:n.1029C>AVOUS01/20/2017
122SGCAEx9NM_000023.2:c.1091A>Gp.Asn364Ser | p.N364SNM_000023.2:c.1091A>G, NM_001135697.1:c.719A>G, NR_024192.1:n.-2888T>C, NR_024193.1:n.-2888T>C, XM_005257574.1:c.785A>G, XR_243679.1:n.1044A>GVOUS10/26/2015
123SGCAEx9NM_000023.2:c.1108C>Tp.Arg370Trp | p.R370WLRG_203t1:c.1108C>T, NM_000023.2:c.1108C>T, NM_001135697.1:c.736C>T, NR_024192.1:n.-2905G>A, NR_024193.1:n.-2905G>A, XM_005257574.1:c.802C>T, XR_243679.1:n.1061C>TVOUS10/18/2016
124SGCAEx9NM_000023.2:c.1109G>Ap.Arg370Gln | p.R370QNM_000023.2:c.1109G>A, NM_001135697.1:c.737G>A, NR_024192.1:n.-2906C>T, NR_024193.1:n.-2906C>T, XM_005257574.1:c.803G>A, XR_243679.1:n.1062G>AVOUS08/28/2015
125SGCAEx9NM_000023.2:c.1120C>Tp.Arg374Cys | p.R374CNM_000023.2:c.1120C>T, NM_001135697.1:c.748C>T, NR_024192.1:n.-2917G>A, NR_024193.1:n.-2917G>ABenign12/16/2013 
126SGCAEx9NM_000023.2:c.1121G>Ap.Arg374His | p.R374HNM_000023.2:c.1121G>A, NM_001135697.1:c.749G>A, NR_024192.1:n.-2918C>T, NR_024193.1:n.-2918C>T, XM_005257574.1:c.815G>A, XR_243679.1:n.1074G>AVOUS01/26/2016
127SGCAEx9NM_000023.2:c.1132G>Ap.Ala378Thr | p.A378TLRG_203t1:c.1132G>A, NM_000023.2:c.1132G>A, NM_001135697.1:c.760G>A, NR_024192.1:n.-2929C>T, NR_024193.1:n.-2929C>T, XM_005257574.1:c.826G>A, XR_243679.1:n.1085G>AVOUS09/01/2016
128SGCAEx9NM_000023.2:c.1133C>Tp.Ala378Val | p.A378VLRG_203t1:c.1133C>T, NM_000023.2:c.1133C>T, NM_001135697.1:c.761C>T, NR_024192.1:n.-2930G>A, NR_024193.1:n.-2930G>A, XM_005257574.1:c.827C>T, XR_243679.1:n.1086C>TVOUS09/12/2016
129SGCAEx9NM_000023.2:c.1153_1163delGACCAGCACTGp.Asp385Thrfs*51 | p.D385TfsX51LRG_203t1:c.1153_1163delGACCAGCACTG, NM_000023.2:c.1153_1163delGACCAGCACTG, NM_001135697.1:c.781_791delGACCAGCACTG, NR_024192.1:n.-2960_-2950delCAGTGCTGGTC, NR_024193.1:n.-2960_-2950delCAGTGCTGGTC, XM_005257574.1:c.847_857delGACCAGCACTG, XR_243679.1:n.1106_1116delGACCAGCACTGVOUS09/25/2017
130SGCAEx4NM_000023.3:c.348_352dupTCGGCp.Gln118Leufs*95 | p.Q118LfsX95LRG_203t1:c.348_352dupTCGGC, NM_000023.2:c.348_352dupTCGGC, NM_001135697.1:c.348_352dupTCGGC, NR_024192.1:n.*3442_*3446dupGCCGA, NR_024193.1:n.*3442_*3446dupGCCGA, XM_005257574.1:c.42_46dupTCGGC, XR_243679.1:n.510_514dupTCGGCPathogenic08/27/2020 

* 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.