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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  
1AHI1Ex4NM_017651.4:c.72T>Cp.Ser24= | p.S24=NM_001134830.1:c.72T>C, NM_001134831.1:c.72T>C, NM_001134832.1:c.72T>C, NM_017651.4:c.72T>C, XM_005267038.1:c.72T>C, XM_005267039.1:c.72T>C, XR_245541.1:n.866T>C, XR_245542.1:n.866T>C, XR_245543.1:n.866T>C, XR_245544.1:n.866T>CLikely benign05/27/2015 
2AHI1Ex4NM_017651.4:c.74A>Gp.Asp25Gly | p.D25GNM_001134830.1:c.74A>G, NM_001134831.1:c.74A>G, NM_001134832.1:c.74A>G, NM_017651.4:c.74A>G, XM_005267038.1:c.74A>G, XM_005267039.1:c.74A>G, XR_245541.1:n.868A>G, XR_245542.1:n.868A>G, XR_245543.1:n.868A>G, XR_245544.1:n.868A>GVOUS01/20/2016
3AHI1Ex4NM_017651.4:c.82C>Tp.Arg28Cys | p.R28CNM_001134830.1:c.82C>T, NM_001134831.1:c.82C>T, NM_001134832.1:c.82C>T, NM_017651.4:c.82C>T, XM_005267038.1:c.82C>T, XM_005267039.1:c.82C>T, XR_245541.1:n.876C>T, XR_245542.1:n.876C>T, XR_245543.1:n.876C>T, XR_245544.1:n.876C>TLikely benign04/18/2019 
4AHI1Ex6NM_017651.4:c.259A>Tp.Thr87Ser | p.T87SVOUS12/24/2019
5AHI1Ex6NM_017651.4:c.517G>Ap.Ala173Thr | p.A173TNM_001134830.1:c.517G>A, NM_001134831.1:c.517G>A, NM_001134832.1:c.517G>A, NM_017651.4:c.517G>ABenign03/02/2015 
6AHI1Ex6NM_017651.4:c.679G>Ap.Asp227Asn | p.D227NNM_001134830.1:c.679G>A, NM_001134831.1:c.679G>A, NM_001134832.1:c.679G>A, NM_017651.4:c.679G>A, XM_005267038.1:c.679G>A, XM_005267039.1:c.679G>A, XR_245541.1:n.1473G>A, XR_245542.1:n.1473G>A, XR_245543.1:n.1473G>A, XR_245544.1:n.1473G>AVOUS04/26/2016
7AHI1Ex8NM_017651.4:c.986G>Tp.Arg329Leu | p.R329LNM_001134830.1:c.986G>T, NM_001134831.1:c.986G>T, NM_001134832.1:c.986G>T, NM_017651.4:c.986G>T, XM_005267038.1:c.986G>T, XM_005267039.1:c.986G>T, XR_245541.1:n.1780G>T, XR_245542.1:n.1780G>T, XR_245543.1:n.1780G>T, XR_245544.1:n.1780G>TVOUS11/06/2015
8AHI1Ex8NM_017651.4:c.989A>Gp.Asp330Gly | p.D330GNM_001134830.1:c.989A>G, NM_001134831.1:c.989A>G, NM_001134832.1:c.989A>G, NM_017651.4:c.989A>G, XM_005267038.1:c.989A>G, XM_005267039.1:c.989A>G, XR_245541.1:n.1783A>G, XR_245542.1:n.1783A>G, XR_245543.1:n.1783A>G, XR_245544.1:n.1783A>GLikely benign05/09/2019 
9AHI1Ex8NM_017651.4:c.1033T>Ap.Leu345Met | p.L345MNM_001134830.1:c.1033T>A, NM_001134831.1:c.1033T>A, NM_001134832.1:c.1033T>A, NM_017651.4:c.1033T>A, XM_005267038.1:c.1033T>A, XM_005267039.1:c.1033T>A, XR_245541.1:n.1827T>A, XR_245542.1:n.1827T>A, XR_245543.1:n.1827T>A, XR_245544.1:n.1827T>AVOUS06/03/2015
10AHI1Ex8NM_017651.4:c.1052G>Ap.Arg351Gln | p.R351QNM_001134830.1:c.1052G>A, NM_001134831.1:c.1052G>A, NM_001134832.1:c.1052G>A, NM_017651.4:c.1052G>A, XM_005267038.1:c.1052G>A, XM_005267039.1:c.1052G>A, XR_245541.1:n.1846G>A, XR_245542.1:n.1846G>A, XR_245543.1:n.1846G>A, XR_245544.1:n.1846G>AVOUS12/28/2018
11AHI1Ex9NM_017651.4:c.1157G>Ap.Arg386Gln | p.R386QNM_001134830.1:c.1157G>A, NM_001134831.1:c.1157G>A, NM_001134832.1:c.1157G>A, NM_017651.4:c.1157G>A, XM_005267038.1:c.1157G>A, XM_005267039.1:c.1157G>A, XR_245541.1:n.1951G>A, XR_245542.1:n.1951G>A, XR_245543.1:n.1951G>A, XR_245544.1:n.1951G>AVOUS03/13/2015
12AHI1Ex9NM_017651.4:c.1235dupAp.Leu413Valfs*15 | p.L413VfsX15NM_001134830.1:c.1235dupA, NM_001134831.1:c.1235dupA, NM_001134832.1:c.1235dupA, NM_017651.4:c.1235dupA, XM_005267038.1:c.1235dupA, XM_005267039.1:c.1235dupA, XR_245541.1:n.2029dupA, XR_245542.1:n.2029dupA, XR_245543.1:n.2029dupA, XR_245544.1:n.2029dupAPathogenic07/18/2017 
13AHI1Ex11NM_017651.4:c.1626+1G>ANM_001134830.1:c.1626+1G>A, NM_001134831.1:c.1626+1G>A, NM_001134832.1:c.1626+1G>A, NM_017651.4:c.1626+1G>A, XM_005267038.1:c.1626+1G>A, XM_005267039.1:c.1626+1G>A, XR_245541.1:n.2420+1G>A, XR_245542.1:n.2420+1G>A, XR_245543.1:n.2420+1G>A, XR_245544.1:n.2420+1G>APathogenic02/21/2019 
14AHI1Ex12NM_017651.4:c.1680A>Gp.Pro560= | p.P560=NM_001134830.1:c.1680A>G, NM_001134831.1:c.1680A>G, NM_001134832.1:c.1680A>G, NM_017651.4:c.1680A>G, XM_005267038.1:c.1680A>G, XM_005267039.1:c.1680A>G, XR_245541.1:n.2474A>G, XR_245542.1:n.2474A>G, XR_245543.1:n.2474A>G, XR_245544.1:n.2474A>GVOUS06/07/2017
15AHI1Ex13NM_017651.4:c.1791C>Tp.Ile597= | p.I597=NM_001134830.1:c.1791C>T, NM_001134831.1:c.1791C>T, NM_001134832.1:c.1791C>T, NM_017651.4:c.1791C>T, XM_005267038.1:c.1791C>T, XM_005267039.1:c.1791C>T, XR_245541.1:n.2585C>T, XR_245542.1:n.2585C>T, XR_245543.1:n.2585C>T, XR_245544.1:n.2585C>TBenign05/19/2015 
16AHI1Ex16NM_017651.4:c.2282C>Tp.Ser761Leu | p.S761LNM_001134830.1:c.2282C>T, NM_001134831.1:c.2282C>T, NM_001134832.1:c.2282C>T, NM_017651.4:c.2282C>T, XM_005267038.1:c.2282C>T, XM_005267039.1:c.2282C>T, XR_245541.1:n.3076C>T, XR_245542.1:n.3076C>T, XR_245543.1:n.3076C>T, XR_245544.1:n.3076C>TVOUS07/18/2014
17AHI1Ex16NM_017651.4:c.2294C>Tp.Thr765Ile | p.T765INM_001134830.1:c.2294C>T, NM_001134831.1:c.2294C>T, NM_001134832.1:c.2294C>T, NM_017651.4:c.2294C>T, XM_005267038.1:c.2294C>T, XM_005267039.1:c.2294C>T, XR_245541.1:n.3088C>T, XR_245542.1:n.3088C>T, XR_245543.1:n.3088C>T, XR_245544.1:n.3088C>TVOUS03/24/2016
18AHI1Ex17NM_017651.4:c.2488C>Tp.Arg830Trp | p.R830WNM_001134830.1:c.2488C>T, NM_001134831.1:c.2488C>T, NM_001134832.1:c.2488C>T, NM_017651.4:c.2488C>TBenign03/02/2015 
19AHI1Ex17NM_017651.4:c.2490G>Ap.Arg830= | p.R830=NM_001134830.1:c.2490G>A, NM_001134831.1:c.2490G>A, NM_001134832.1:c.2490G>A, NM_017651.4:c.2490G>A, XM_005267038.1:c.2490G>A, XM_005267039.1:c.2490G>A, XR_245541.1:n.3284G>A, XR_245542.1:n.3284G>A, XR_245543.1:n.3284G>A, XR_245544.1:n.3168-1125G>ALikely benign06/13/2017 
20AHI1Ex18NM_017651.4:c.2505G>Ap.Arg835= | p.R835=NM_001134830.1:c.2505G>A, NM_001134831.1:c.2505G>A, NM_001134832.1:c.2505G>A, NM_017651.4:c.2505G>A, XM_005267038.1:c.2505G>A, XM_005267039.1:c.2505G>A, XR_245541.1:n.3299G>A, XR_245542.1:n.3299G>A, XR_245543.1:n.3299G>A, XR_245544.1:n.3180G>ABenign03/05/2015 
21AHI1Ex18NM_017651.4:c.2598A>Cp.Ile866= | p.I866=NM_001134830.1:c.2598A>C, NM_001134831.1:c.2598A>C, NM_001134832.1:c.2598A>C, NM_017651.4:c.2598A>C, XM_005267038.1:c.2598A>C, XM_005267039.1:c.2598A>C, XR_245541.1:n.3392A>C, XR_245542.1:n.3392A>C, XR_245543.1:n.3392A>C, XR_245544.1:n.3273A>CVOUS04/18/2019
22AHI1Ex20NM_017651.4:c.2798A>Gp.Tyr933Cys | p.Y933CNM_001134830.1:c.2798A>G, NM_001134831.1:c.2798A>G, NM_001134832.1:c.2798A>G, NM_017651.4:c.2798A>G, XM_005267038.1:c.2798A>G, XM_005267039.1:c.2798A>G, XR_245541.1:n.3592A>G, XR_245542.1:n.3592A>G, XR_245543.1:n.3592A>G, XR_245544.1:n.3473A>GBenign03/05/2015 
23AHI1Ex20NM_017651.4:c.2808A>Gp.Thr936= | p.T936=NM_001134830.1:c.2808A>G, NM_001134831.1:c.2808A>G, NM_001134832.1:c.2808A>G, NM_017651.4:c.2808A>G, XM_005267038.1:c.2808A>G, XM_005267039.1:c.2808A>G, XR_245541.1:n.3602A>G, XR_245542.1:n.3602A>G, XR_245543.1:n.3602A>G, XR_245544.1:n.3483A>GVOUS01/27/2015
24AHI1Ex20NM_017651.4:c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAANM_001134830.1:c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA, NM_001134831.1:c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA, NM_001134832.1:c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA, NM_017651.4:c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA, XM_005267038.1:c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA, XM_005267039.1:c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA, XR_245541.1:n.3755+7_3755+21delinsGACTTTTTTAAAGTTTTAAA, XR_245542.1:n.3755+7_3755+21delinsGACTTTTTTAAAGTTTTAAA, XR_245543.1:n.3755+7_3755+21delinsGACTTTTTTAAAGTTTTAAA, XR_245544.1:n.3636+7_3636+21delinsGACTTTTTTAAAGTTTTAAAVOUS03/19/2014
25AHI1Ex21NM_017651.4:c.2972G>Ap.Arg991His | p.R991HNM_001134830.1:c.2972G>A, NM_001134831.1:c.2972G>A, NM_001134832.1:c.2972G>A, NM_017651.4:c.2972G>A, XM_005267038.1:c.2972G>A, XM_005267039.1:c.2972G>A, XR_245541.1:n.3766G>A, XR_245542.1:n.3766G>A, XR_245543.1:n.3766G>A, XR_245544.1:n.3647G>ABenign03/02/2015 
26AHI1Ex21NM_017651.4:c.2988delAp.Val997Serfs*20 | p.V997SfsX20NM_001134830.1:c.2988delA, NM_001134831.1:c.2988delA, NM_001134832.1:c.2988delA, NM_017651.4:c.2988delA, XM_005267038.1:c.2988delA, XM_005267039.1:c.2988delA, XR_245541.1:n.3782delA, XR_245542.1:n.3782delA, XR_245543.1:n.3782delA, XR_245544.1:n.3663delALikely pathogenic12/28/2018 
27AHI1Ex22NM_017651.4:c.3039G>Ap.Gln1013= | p.Q1013=NM_001134830.1:c.3039G>A, NM_001134831.1:c.3039G>A, NM_001134832.1:c.3039G>A, NM_017651.4:c.3039G>A, XM_005267038.1:c.3039G>A, XM_005267039.1:c.3039G>A, XR_245541.1:n.3833G>A, XR_245542.1:n.3833G>A, XR_245543.1:n.3833G>A, XR_245544.1:n.*10G>ABenign06/23/2015 
28AHI1Ex23NM_017651.4:c.3159A>Tp.Ala1053= | p.A1053=NM_001134830.1:c.3159A>T, NM_001134831.1:c.3159A>T, NM_017651.4:c.3159A>T, XM_005267038.1:c.3159A>T, XM_005267039.1:c.3159A>T, XR_245541.1:n.3953A>T, XR_245542.1:n.3953A>T, XR_245543.1:n.3953A>TVOUS04/26/2016
29AHI1Ex23NM_017651.4:c.3164C>Tp.Thr1055Met | p.T1055MNM_001134830.1:c.3164C>T, NM_001134831.1:c.3164C>T, NM_017651.4:c.3164C>T, XM_005267038.1:c.3164C>T, XM_005267039.1:c.3164C>T, XR_245541.1:n.3958C>T, XR_245542.1:n.3958C>T, XR_245543.1:n.3958C>TLikely benign04/01/2015 
30AHI1Ex23NM_017651.4:c.3165+1G>ANM_001134830.1:c.3165+1G>A, NM_001134831.1:c.3165+1G>A, NM_017651.4:c.3165+1G>A, XM_005267038.1:c.3165+1G>A, XM_005267039.1:c.3165+1G>A, XR_245541.1:n.3959+1G>A, XR_245542.1:n.3959+1G>A, XR_245543.1:n.3959+1G>AVOUS10/27/2016
31AHI1Ex24NM_017651.4:c.3223G>Ap.Gly1075Arg | p.G1075RNM_001134830.1:c.3223G>A, NM_001134831.1:c.3223G>A, NM_017651.4:c.3223G>A, XM_005267038.1:c.3223G>A, XM_005267039.1:c.3223G>A, XR_245541.1:n.4017G>A, XR_245542.1:n.4017G>A, XR_245543.1:n.4017G>AVOUS03/13/2015
32AHI1Ex24NM_017651.4:c.3257A>Gp.Glu1086Gly | p.E1086GNM_001134830.1:c.3257A>G, NM_001134831.1:c.3257A>G, NM_017651.4:c.3257A>G, XM_005267038.1:c.3257A>G, XM_005267039.1:c.3257A>G, XR_245541.1:n.4051A>G, XR_245542.1:n.4051A>G, XR_245543.1:n.4051A>GBenign11/09/2016 
33AHI1Ex25NM_017651.4:c.3368C>Tp.Ser1123Phe | p.S1123FNM_001134830.1:c.3368C>T, NM_001134831.1:c.3368C>T, NM_017651.4:c.3368C>TBenign03/02/2015 
34AHI1Ex25NM_017651.4:c.3426+13G>ANM_001134830.1:c.3426+13G>A, NM_001134831.1:c.3426+13G>A, NM_017651.4:c.3426+13G>ABenign03/02/2015 
35AHI1Ex27NM_017651.4:c.3546G>Ap.Met1182Ile | p.M1182INM_001134830.1:c.3546G>A, NM_001134831.1:c.3546G>A, NM_017651.4:c.3546G>A, XM_005267038.1:c.3546G>A, XM_005267039.1:c.3486-4818G>A, XR_245541.1:n.6599G>A, XR_245542.1:n.5750G>ALikely benign04/08/2016 
36AHI1Ex27NM_017651.4:c.3579T>Cp.Thr1193= | p.T1193=NM_001134830.1:c.3579T>C, NM_001134831.1:c.3579T>C, NM_017651.4:c.3579T>C, XM_005267038.1:c.3579T>C, XM_005267039.1:c.3486-4785T>C, XR_245541.1:n.6632T>C, XR_245542.1:n.5783T>CBenign08/26/2014 

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.