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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  
1SACSEx8NM_014363.4:c.1066A>Cp.Ile356Leu | p.I356LNM_001278055.1:c.625A>C, NM_014363.4:c.1066A>C, NM_014363.5:c.1066A>C, XM_005266338.1:c.1066A>CLikely benign05/13/2016 
2SACSEx8NM_014363.4:c.1373C>Tp.Thr458Ile | p.T458INM_001278055.1:c.932C>T, NM_014363.4:c.1373C>T, NM_014363.5:c.1373C>T, XM_005266338.1:c.1373C>TVOUS08/13/2015
3SACSEx8NM_014363.4:c.1917A>Gp.Ala639= | p.A639=NM_001278055.1:c.1476A>G, NM_014363.4:c.1917A>G, NM_014363.5:c.1917A>G, XM_005266338.1:c.1917A>GVOUS05/13/2016
4SACSEx10NM_014363.4:c.2643G>Cp.Glu881Asp | p.E881DNM_001278055.1:c.2202G>C, NM_014363.4:c.2643G>C, NM_014363.5:c.2643G>C, XM_005266338.1:c.2670G>CVOUS04/13/2015
5SACSEx10NM_014363.4:c.2996T>Cp.Ile999Thr | p.I999TNM_001278055.1:c.2555T>C, NM_014363.4:c.2996T>C, NM_014363.5:c.2996T>C, XM_005266338.1:c.3023T>CVOUS04/18/2016
6SACSEx10NM_014363.4:c.3074A>Tp.Asn1025Ile | p.N1025INM_001278055.1:c.2633A>T, NM_014363.4:c.3074A>T, NM_014363.5:c.3074A>T, XM_005266338.1:c.3101A>TVOUS05/26/2015
7SACSEx10NM_014363.4:c.3129A>Gp.Ser1043= | p.S1043=NM_001278055.1:c.2688A>G, NM_014363.4:c.3129A>G, NM_014363.5:c.3129A>G, XM_005266338.1:c.3156A>GLikely benign01/08/2016 
8SACSEx10NM_014363.4:c.3752T>Cp.Ile1251Thr | p.I1251TNM_001278055.1:c.3311T>C, NM_014363.4:c.3752T>C, NM_014363.5:c.3752T>C, XM_005266338.1:c.3779T>CLikely benign08/25/2015 
9SACSEx10NM_014363.4:c.4076T>Cp.Met1359Thr | p.M1359TNM_001278055.1:c.3635T>C, NM_014363.4:c.4076T>C, NM_014363.5:c.4076T>C, XM_005266338.1:c.4103T>CVOUS04/08/2019
10SACSEx10NM_014363.4:c.4117_4118delGCinsCTNM_001278055.1:c.3676_3677delinsCT, NM_014363.4:c.4117_4118delinsCT, NM_014363.5:c.4117_4118delinsCT, XM_005266338.1:c.4144_4145delinsCTBenign11/18/2015 
11SACSEx10NM_014363.4:c.4118C>Tp.Ala1373Val | p.A1373VNM_001278055.1:c.3677C>T, NM_014363.4:c.4118C>T, NM_014363.5:c.4118C>T, XM_005266338.1:c.4145C>TBenign11/18/2015 
12SACSEx10NM_014363.4:c.4188C>Tp.His1396= | p.H1396=NM_001278055.1:c.3747C>T, NM_014363.4:c.4188C>T, NM_014363.5:c.4188C>T, XM_005266338.1:c.4215C>TBenign10/13/2015 
13SACSEx10NM_014363.4:c.4469C>Gp.Ala1490Gly | p.A1490GNM_001278055.1:c.4028C>G, NM_014363.4:c.4469C>G, NM_014363.5:c.4469C>G, XM_005266338.1:c.4496C>GVOUS04/18/2016
14SACSEx10NM_014363.4:c.5065_5066delAGp.Ser1689Cysfs*12 | p.S1689CfsX12NM_001278055.1:c.4624_4625delAG, NM_014363.4:c.5065_5066delAG, NM_014363.5:c.5065_5066delAG, XM_005266338.1:c.5092_5093delAGPathogenic05/01/2018 
15SACSEx10NM_014363.4:c.6008A>Tp.Asp2003Val | p.D2003VNM_001278055.1:c.5567A>T, NM_014363.4:c.6008A>T, NM_014363.5:c.6008A>T, XM_005266338.1:c.6035A>TVOUS05/17/2016
16SACSEx10NM_014363.4:c.6240T>Cp.Val2080= | p.V2080=NM_001278055.1:c.5799T>C, NM_014363.4:c.6240T>C, NM_014363.5:c.6240T>C, XM_005266338.1:c.6267T>CVOUS04/29/2016
17SACSEx10NM_014363.4:c.6267G>Ap.Ser2089= | p.S2089=NM_001278055.1:c.5826G>A, NM_014363.4:c.6267G>A, NM_014363.5:c.6267G>A, XM_005266338.1:c.6294G>ABenign10/13/2015 
18SACSEx10NM_014363.4:c.7140T>Ap.Asn2380Lys | p.N2380KNM_001278055.1:c.6699T>A, NM_014363.4:c.7140T>A, NM_014363.5:c.7140T>A, XM_005266338.1:c.7167T>AVOUS12/07/2015
19SACSEx10NM_014363.4:c.7466C>Ap.Pro2489His | p.P2489HNM_001278055.1:c.7025C>A, NM_014363.4:c.7466C>A, NM_014363.5:c.7466C>A, XM_005266338.1:c.7493C>AVOUS08/01/2016
20SACSEx10NM_014363.4:c.8022T>Cp.Phe2674= | p.F2674=NM_001278055.1:c.7581T>C, NM_014363.4:c.8022T>C, NM_014363.5:c.8022T>C, XM_005266338.1:c.8049T>CVOUS12/07/2015
21SACSEx10NM_014363.4:c.8133G>Ap.Ser2711= | p.S2711=NM_001278055.1:c.7692G>A, NM_014363.4:c.8133G>A, NM_014363.5:c.8133G>A, XM_005266338.1:c.8160G>AVOUS04/15/2015
22SACSEx10NM_014363.4:c.8339T>Gp.Phe2780Cys | p.F2780CNM_001278055.1:c.7898T>G, NM_014363.4:c.8339T>G, NM_014363.5:c.8339T>G, XM_005266338.1:c.8366T>GVOUS12/22/2015
23SACSEx10NM_014363.4:c.8393C>Ap.Pro2798Gln | p.P2798QNM_001278055.1:c.7952C>A, NM_014363.4:c.8393C>A, NM_014363.5:c.8393C>A, XM_005266338.1:c.8420C>AVOUS09/21/2015
24SACSEx10NM_014363.4:c.8414C>Tp.Thr2805Ile | p.T2805INM_001278055.1:c.7973C>T, NM_014363.4:c.8414C>T, NM_014363.5:c.8414C>T, XM_005266338.1:c.8441C>TVOUS12/31/2014
25SACSEx10NM_014363.4:c.8853T>Cp.Val2951= | p.V2951=NM_001278055.1:c.8412T>C, NM_014363.4:c.8853T>C, NM_014363.5:c.8853T>C, XM_005266338.1:c.8880T>CBenign09/24/2014 
26SACSEx10NM_014363.4:c.8873A>Gp.Lys2958Arg | p.K2958RNM_001278055.1:c.8432A>G, NM_014363.4:c.8873A>G, NM_014363.5:c.8873A>G, XM_005266338.1:c.8900A>GBenign09/24/2014 
27SACSEx10NM_014363.4:c.9731T>Ap.Leu3244His | p.L3244HNM_001278055.1:c.9290T>A, NM_014363.4:c.9731T>A, NM_014363.5:c.9731T>A, XM_005266338.1:c.9758T>AVOUS10/21/2015
28SACSEx10NM_014363.4:c.9852A>Gp.Thr3284= | p.T3284=NM_001278055.1:c.9411A>G, NM_014363.4:c.9852A>G, NM_014363.5:c.9852A>G, XM_005266338.1:c.9879A>GVOUS05/13/2016
29SACSEx10NM_014363.4:c.10274A>Gp.Lys3425Arg | p.K3425RNM_001278055.1:c.9833A>G, NM_014363.4:c.10274A>G, NM_014363.5:c.10274A>G, XM_005266338.1:c.10301A>GLikely benign03/21/2016 
30SACSEx10NM_014363.4:c.11703T>Cp.Asn3901= | p.N3901=NM_001278055.1:c.11262T>C, NM_014363.4:c.11703T>C, NM_014363.5:c.11703T>C, XM_005266338.1:c.11730T>CVOUS04/22/2016
31SACSEx10NM_014363.4:c.12028C>Tp.Gln4010* | p.Q4010XNM_001278055.1:c.11587C>T, NM_014363.4:c.12028C>T, NM_014363.5:c.12028C>T, XM_005266338.1:c.12055C>TPathogenic04/15/2016 
32SACSEx10NM_014363.4:c.13036G>Ap.Asp4346Asn | p.D4346NNM_001278055.1:c.12595G>A, NM_014363.4:c.13036G>A, NM_014363.5:c.13036G>A, XM_005266338.1:c.13063G>AVOUS08/29/2016
33SACSEx10NM_014363.4:c.13615C>Tp.Pro4539Ser | p.P4539SNM_001278055.1:c.13174C>T, NM_014363.4:c.13615C>T, NM_014363.5:c.13615C>T, XM_005266338.1:c.13642C>TLikely pathogenic02/21/2017 
34SACSEx10NM_014363.4:c.13717A>Cp.Asn4573His | p.N4573HLRG_207t1:c.*5618T>G, NM_000231.2:c.*5618T>G, NM_001278055.1:c.13276A>C, NM_014363.4:c.13717A>C, NM_014363.5:c.13717A>C, XM_005266338.1:c.13744A>C, XM_005266505.1:c.*5618T>GLikely benign03/29/2016 
35SACSEx8NM_014363.5:c.810T>Gp.Phe270Leu | p.F270LNM_001278055.1:c.369T>G, NM_014363.4:c.810T>G, NM_014363.5:c.810T>G, XM_005266338.1:c.810T>GBenign09/07/2017 
36SACSEx8NM_014363.5:c.1202G>Ap.Arg401Gln | p.R401QNM_001278055.1:c.761G>A, NM_014363.4:c.1202G>A, NM_014363.5:c.1202G>A, XM_005266338.1:c.1202G>AVOUS06/27/2017
37SACSEx8NM_014363.5:c.1255A>Gp.Ile419Val | p.I419VNM_001278055.1:c.814A>G, NM_014363.4:c.1255A>G, NM_014363.5:c.1255A>G, XM_005266338.1:c.1255A>GVOUS05/01/2017
38SACSEx8NM_014363.5:c.1373C>Tp.Thr458Ile | p.T458INM_001278055.1:c.932C>T, NM_014363.4:c.1373C>T, NM_014363.5:c.1373C>T, XM_005266338.1:c.1373C>TVOUS12/09/2016
39SACSEx10NM_014363.5:c.2233C>Tp.Arg745Cys | p.R745CNM_001278055.1:c.1792C>T, NM_014363.4:c.2233C>T, NM_014363.5:c.2233C>T, XM_005266338.1:c.2260C>TVOUS06/29/2018
40SACSEx10NM_014363.5:c.2983G>Tp.Val995Phe | p.V995FNM_001278055.1:c.2542G>T, NM_014363.4:c.2983G>T, NM_014363.5:c.2983G>T, XM_005266338.1:c.3010G>TLikely benign09/21/2016 
41SACSEx10NM_014363.5:c.2988A>Gp.Leu996= | p.L996=NM_001278055.1:c.2547A>G, NM_014363.4:c.2988A>G, NM_014363.5:c.2988A>G, XM_005266338.1:c.3015A>GLikely benign09/21/2016 
42SACSEx10NM_014363.5:c.4279C>Ap.Pro1427Thr | p.P1427TNM_001278055.1:c.3838C>A, NM_014363.4:c.4279C>A, NM_014363.5:c.4279C>A, XM_005266338.1:c.4306C>AVOUS09/20/2016
43SACSEx10NM_014363.5:c.4466A>Gp.Asn1489Ser | p.N1489SNM_001278055.1:c.4025A>G, NM_014363.4:c.4466A>G, NM_014363.5:c.4466A>G, XM_005266338.1:c.4493A>GBenign12/23/2016 
44SACSEx10NM_014363.5:c.4604T>Gp.Phe1535Cys | p.F1535CNM_001278055.1:c.4163T>G, NM_014363.4:c.4604T>G, NM_014363.5:c.4604T>G, XM_005266338.1:c.4631T>GVOUS06/29/2018
45SACSEx10NM_014363.5:c.4747C>Ap.Pro1583Thr | p.P1583TNM_001278055.1:c.4306C>A, NM_014363.4:c.4747C>A, NM_014363.5:c.4747C>A, XM_005266338.1:c.4774C>AVOUS09/07/2017
46SACSEx10NM_014363.5:c.5065_5066delAGp.Ser1689Cysfs*12 | p.S1689CfsX12NM_001278055.1:c.4624_4625delAG, NM_014363.4:c.5065_5066delAG, NM_014363.5:c.5065_5066delAG, XM_005266338.1:c.5092_5093delAGPathogenic05/01/2018 
47SACSEx10NM_014363.5:c.5848G>Ap.Asp1950Asn | p.D1950NNM_001278055.1:c.5407G>A, NM_014363.4:c.5848G>A, NM_014363.5:c.5848G>A, XM_005266338.1:c.5875G>AVOUS09/11/2019
48SACSEx10NM_014363.5:c.7276C>Tp.Arg2426* | p.R2426XNM_001278055.1:c.6835C>T, NM_014363.4:c.7276C>T, NM_014363.5:c.7276C>T, XM_005266338.1:c.7303C>TPathogenic08/22/2018 
49SACSEx10NM_014363.5:c.8142G>Ap.Ser2714= | p.S2714=NM_001278055.1:c.7701G>A, NM_014363.4:c.8142G>A, NM_014363.5:c.8142G>A, XM_005266338.1:c.8169G>AVOUS06/12/2017
50SACSEx10NM_014363.5:c.8245A>Gp.Ile2749Val | p.I2749VNM_001278055.1:c.7804A>G, NM_014363.4:c.8245A>G, NM_014363.5:c.8245A>G, XM_005266338.1:c.8272A>GVOUS11/03/2016
51SACSEx10NM_014363.5:c.8339T>Gp.Phe2780Cys | p.F2780CNM_001278055.1:c.7898T>G, NM_014363.4:c.8339T>G, NM_014363.5:c.8339T>G, XM_005266338.1:c.8366T>GVOUS03/11/2019
52SACSEx10NM_014363.5:c.9731T>Ap.Leu3244His | p.L3244HNM_001278055.1:c.9290T>A, NM_014363.4:c.9731T>A, NM_014363.5:c.9731T>A, XM_005266338.1:c.9758T>AVOUS05/11/2017
53SACSEx10NM_014363.5:c.10461_10462delTCinsAANM_001278055.1:c.10020_10021delinsAA, NM_014363.4:c.10461_10462delinsAA, NM_014363.5:c.10461_10462delinsAA, XM_005266338.1:c.10488_10489delinsAAVOUS06/15/2016
54SACSEx10NM_014363.5:c.10611A>Gp.Ala3537= | p.A3537=NM_001278055.1:c.10170A>G, NM_014363.4:c.10611A>G, NM_014363.5:c.10611A>G, XM_005266338.1:c.10638A>GLikely benign04/20/2017 
55SACSEx10NM_014363.5:c.10668G>Ap.Leu3556= | p.L3556=NM_001278055.1:c.10227G>A, NM_014363.4:c.10668G>A, NM_014363.5:c.10668G>A, XM_005266338.1:c.10695G>AVOUS04/17/2017
56SACSEx10NM_014363.5:c.10822_10823delAGp.Ser3608Cysfs*4 | p.S3608CfsX4NM_001278055.1:c.10381_10382delAG, NM_014363.4:c.10822_10823delAG, NM_014363.5:c.10822_10823delAG, XM_005266338.1:c.10849_10850delAGPathogenic07/18/2018 
57SACSEx10NM_014363.5:c.11152G>Ap.Glu3718Lys | p.E3718KNM_001278055.1:c.10711G>A, NM_014363.4:c.11152G>A, NM_014363.5:c.11152G>A, XM_005266338.1:c.11179G>AVOUS08/02/2016
58SACSEx10NM_014363.5:c.11899C>Gp.Gln3967Glu | p.Q3967ENM_001278055.1:c.11458C>G, NM_014363.4:c.11899C>G, NM_014363.5:c.11899C>G, XM_005266338.1:c.11926C>GVOUS03/09/2017
59SACSEx10NM_014363.5:c.13027G>Ap.Glu4343Lys | p.E4343KNM_001278055.1:c.12586G>A, NM_014363.4:c.13027G>A, NM_014363.5:c.13027G>A, XM_005266338.1:c.13054G>AVOUS06/29/2017

* 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.