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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  
1GALCEx1NM_000153.3:c.42G>Cp.Ala14= | p.A14=NM_000153.2:c.42G>C, NM_000153.3:c.42G>C, NM_001037525.1:c.42G>C, NM_001037525.2:c.42G>C, NM_001201401.1:c.42G>C, NM_001201402.1:c.117+260G>C, XM_005267501.1:c.-793G>CBenign01/03/2013 
2GALCEx1NM_000153.3:c.61G>Cp.Ala21Pro | p.A21PNM_000153.2:c.61G>C, NM_000153.3:c.61G>C, NM_001037525.1:c.61G>C, NM_001037525.2:c.61G>C, NM_001201401.1:c.61G>C, NM_001201402.1:c.117+279G>CBenign01/03/2013 
3GALCEx1NM_000153.3:c.75C>Ap.Gly25= | p.G25=NM_000153.2:c.75C>A, NM_000153.3:c.75C>A, NM_001037525.1:c.75C>A, NM_001037525.2:c.75C>A, NM_001201401.1:c.75C>A, NM_001201402.1:c.117+293C>ABenign01/03/2013 
4GALCEx1NM_000153.3:c.96G>Tp.Leu32= | p.L32=NM_000153.2:c.96G>T, NM_000153.3:c.96G>T, NM_001037525.1:c.96G>T, NM_001037525.2:c.96G>T, NM_001201401.1:c.96G>T, NM_001201402.1:c.117+314G>T, XM_005267501.1:c.-739G>TBenign01/31/2017 
5GALCEx1NM_000153.3:c.117delCp.Gly40Alafs*32 | p.G40AfsX32NM_000153.2:c.117delC, NM_000153.3:c.117delC, NM_001037525.1:c.117delC, NM_001037525.2:c.117delC, NM_001201401.1:c.117delC, NM_001201402.1:c.117+335delC, XM_005267501.1:c.-718delCPathogenic09/16/2019 
6GALCEx1NM_000153.3:c.155delGp.Gly52Alafs*20 | p.G52AfsX20NM_000153.2:c.155delG, NM_000153.3:c.155delG, NM_001037525.1:c.155delG, NM_001037525.2:c.155delG, NM_001201401.1:c.155delG, NM_001201402.1:c.117+373delG, XM_005267501.1:c.-680delGPathogenic** 
7GALCEx1NM_000153.3:c.169G>Ap.Gly57Ser | p.G57SNM_000153.2:c.169G>A, NM_000153.3:c.169G>A, NM_001037525.1:c.169G>A, NM_001037525.2:c.169G>A, NM_001201401.1:c.169G>A, NM_001201402.1:c.117+387G>A, XM_005267501.1:c.-666G>APathogenic10/16/2014 
8GALCEx1NM_000153.3:c.175G>Ap.Gly59Ser | p.G59SNM_000153.2:c.175G>A, NM_000153.3:c.175G>A, NM_001037525.1:c.175G>A, NM_001037525.2:c.175G>A, NM_001201401.1:c.175G>A, NM_001201402.1:c.117+393G>A, XM_005267501.1:c.-660G>AVOUS**
9GALCEx1NM_000153.3:c.176delGPathogenic** 
10GALCEx1NM_000153.3:c.195G>Cp.Gly65= | p.G65=NM_000153.2:c.195G>C, NM_000153.3:c.195G>C, NM_001037525.1:c.195G>C, NM_001037525.2:c.195G>C, NM_001201401.1:c.195G>C, NM_001201402.1:c.117+413G>C, XM_005267501.1:c.-640G>CLikely pathogenic05/18/2017 
11GALCEx1NM_000153.3:c.195+34G>TBenign** 
12GALCEx1NM_000153.3:c.195+34G>ANM_000153.2:c.195+34G>A, NM_000153.3:c.195+34G>A, NM_001037525.1:c.195+34G>A, NM_001037525.2:c.195+34G>A, NM_001201401.1:c.195+34G>A, NM_001201402.1:c.117+447G>A, XM_005267501.1:c.-606G>AVOUS**
13GALCEx2NM_000153.3:c.196-43C>TBenign** 
14GALCEx2NM_000153.3:c.205C>Tp.Arg69* | p.R69XNM_000153.2:c.205C>T, NM_000153.3:c.205C>T, NM_001037525.1:c.205C>T, NM_001037525.2:c.205C>T, NM_001201401.1:c.196-307C>T, NM_001201402.1:c.127C>T, XM_005267501.1:c.37C>TPathogenic08/22/2014 
15GALCEx2NM_000153.3:c.226G>Ap.Glu76Lys | p.E76KNM_000153.2:c.226G>A, NM_000153.3:c.226G>A, NM_001037525.1:c.226G>A, NM_001037525.2:c.226G>A, NM_001201401.1:c.196-286G>A, NM_001201402.1:c.148G>A, XM_005267501.1:c.58G>AVOUS10/30/2019
16GALCEx2NM_000153.3:c.242_243dupAGp.Ile82Argfs*18 | p.I82RfsX18NM_000153.2:c.242_243dupAG, NM_000153.2:c.243_244insAG, NM_000153.3:c.242_243dupAG, NM_000153.3:c.243_244insAG, NM_001037525.1:c.242_243dupAG, NM_001037525.1:c.243_244insAG, NM_001037525.2:c.242_243dupAG, NM_001037525.2:c.243_244insAG, NM_001201401.1:c.196-269_196-268insAG, NM_001201401.1:c.196-270_196-269dupAG, NM_001201402.1:c.164_165dupAG, NM_001201402.1:c.165_166insAG, XM_005267501.1:c.74_75dupAG, XM_005267501.1:c.75_76insAGPathogenic03/16/2016 
17GALCEx3NM_000153.3:c.266C>Tp.Pro89Leu | p.P89LNM_000153.2:c.266C>T, NM_000153.3:c.266C>T, NM_001037525.1:c.266C>T, NM_001037525.2:c.266C>T, NM_001201401.1:c.197C>T, NM_001201402.1:c.188C>T, XM_005267501.1:c.98C>TVOUS10/05/2017
18GALCEx3NM_000153.3:c.308G>Tp.Gly103Val | p.G103VNM_000153.2:c.308G>T, NM_000153.3:c.308G>T, NM_001037525.1:c.308G>T, NM_001037525.2:c.308G>T, NM_001201401.1:c.239G>T, NM_001201402.1:c.230G>T, XM_005267501.1:c.140G>TVOUS11/08/2017
19GALCEx3NM_000153.3:c.308G>Ap.Gly103Asp | p.G103DVOUS**
20GALCEx3NM_000153.3:c.328+19T>ANM_000153.2:c.328+19T>A, NM_000153.3:c.328+19T>A, NM_001037525.1:c.328+19T>A, NM_001037525.2:c.328+19T>A, NM_001201401.1:c.259+19T>A, NM_001201402.1:c.250+19T>ABenign01/03/2013 
21GALCEx4NM_000153.3:c.329-35G>ABenign** 
22GALCEx4NM_000153.3:c.330C>Tp.Asp110= | p.D110=NM_000153.2:c.330C>T, NM_000153.3:c.330C>T, NM_001037525.1:c.330C>T, NM_001037525.2:c.330C>T, NM_001201401.1:c.261C>T, NM_001201402.1:c.252C>TBenign01/03/2013 
23GALCEx4NM_000153.3:c.332G>Ap.Gly111Asp | p.G111DG95D, NM_000153.2:c.332G>A, NM_000153.3:c.332G>A, NM_001037525.1:c.332G>A, NM_001037525.2:c.332G>A, NM_001201401.1:c.263G>A, NM_001201402.1:c.254G>A, XM_005267501.1:c.164G>APathogenic** 
24GALCEx4NM_000153.3:c.334A>Gp.Thr112Ala | p.T112AA286G (Thr96Ala), NM_000153.2:c.334A>G, NM_000153.3:c.334A>G, NM_001037525.1:c.334A>G, NM_001037525.2:c.334A>G, NM_001201401.1:c.265A>G, NM_001201402.1:c.256A>G, T96A, XM_005267501.1:c.166A>GVOUS09/08/2020
25GALCEx4NM_000153.3:c.349A>Gp.Met117Val | p.M117VNM_000153.2:c.349A>G, NM_000153.3:c.349A>G, NM_001037525.1:c.349A>G, NM_001037525.2:c.349A>G, NM_001201401.1:c.280A>G, NM_001201402.1:c.271A>G, XM_005267501.1:c.181A>GVOUS08/26/2016
26GALCEx4NM_000153.3:c.388G>Ap.Glu130Lys | p.E130KPathogenic** 
27GALCEx4NM_000153.3:c.397T>Cp.Leu133= | p.L133=NM_000153.2:c.397T>C, NM_000153.3:c.397T>C, NM_001037525.1:c.397T>C, NM_001037525.2:c.397T>C, NM_001201401.1:c.328T>C, NM_001201402.1:c.319T>C, XM_005267501.1:c.229T>CBenign01/31/2017 
28GALCEx4NM_000153.3:c.430delANM_000153.2:c.430delA, NM_000153.3:c.430delA, NM_001037525.1:c.430delA, NM_001037525.2:c.430delA, NM_001201401.1:c.361delA, NM_001201402.1:c.352delA, XM_005267501.1:c.262delAPathogenic05/13/2014 
29GALCEx4NM_000153.3:c.442+17G>TVOUS**
30GALCEx4NM_000153.3:c.442+36T>GVOUS**
31GALCEx5NM_000153.3:c.453G>Ap.Trp151* | p.W151XPathogenic** 
32GALCEx5NM_000153.3:c.500A>Gp.Asn167Ser | p.N167SNM_000153.2:c.500A>G, NM_000153.3:c.500A>G, NM_001037525.1:c.500A>G, NM_001037525.2:c.500A>G, NM_001201401.1:c.431A>G, NM_001201402.1:c.422A>G, XM_005267501.1:c.332A>G, XR_245677.1:n.-3828A>GVOUS10/27/2016
33GALCEx5NM_000153.3:c.525C>Tp.Val175= | p.V175=NM_000153.2:c.525C>T, NM_000153.3:c.525C>T, NM_001037525.1:c.525C>T, NM_001037525.2:c.525C>T, NM_001201401.1:c.456C>T, NM_001201402.1:c.447C>T, XM_005267501.1:c.357C>T, XR_245677.1:n.-3803C>TVOUS03/09/2017
34GALCEx5NM_000153.3:c.550C>Tp.Arg184Cys | p.R184CNM_000153.2:c.550C>T, NM_000153.3:c.550C>T, NM_001037525.1:c.550C>T, NM_001037525.2:c.550C>T, NM_001201401.1:c.481C>T, NM_001201402.1:c.472C>T, XM_005267501.1:c.382C>T, XR_245677.1:n.-3778C>TBenign10/27/2015 
35GALCEx5NM_000153.3:c.582+1G>ANM_000153.2:c.582+1G>A, NM_000153.3:c.582+1G>A, NM_001037525.1:c.582+1G>A, NM_001037525.2:c.582+1G>A, NM_001201401.1:c.513+1G>A, NM_001201402.1:c.504+1G>A, XM_005267501.1:c.414+1G>A, XR_245677.1:n.-3745G>APathogenic** 
36GALCEx6NM_000153.3:c.583-6T>ANM_000153.2:c.583-6T>A, NM_000153.3:c.583-6T>A, NM_001037525.1:c.583-6T>A, NM_001037525.2:c.583-6T>A, NM_001201401.1:c.514-6T>A, NM_001201402.1:c.505-6T>A, XM_005267501.1:c.415-6T>A, XR_245677.1:n.-1601T>ALikely pathogenic04/21/2020 
37GALCEx6NM_000153.3:c.592G>Ap.Glu198Lys | p.E198KNM_000153.2:c.592G>A, NM_000153.3:c.592G>A, NM_001037525.1:c.592G>A, NM_001037525.2:c.592G>A, NM_001201401.1:c.523G>A, NM_001201402.1:c.514G>A, XM_005267501.1:c.424G>A, XR_245677.1:n.-1586G>AVOUS05/15/2018
38GALCEx6NM_000153.3:c.621+24T>CBenign** 
39GALCEx7NM_000153.3:c.628A>Tp.Arg210* | p.R210XNM_000153.2:c.628A>T, NM_000153.3:c.628A>T, NM_001037525.1:c.628A>T, NM_001037525.2:c.628A>T, NM_001201401.1:c.559A>T, NM_001201402.1:c.550A>T, XM_005267501.1:c.460A>T, XR_245677.1:n.151A>TPathogenic12/15/2015 
40GALCEx7NM_000153.3:c.655C>Tp.Gln219* | p.Q219XPathogenic** 
41GALCEx7NM_000153.3:c.658C>Tp.Arg220* | p.R220XNM_000153.2:c.658C>T, NM_000153.3:c.658C>T, NM_001037525.1:c.658C>T, NM_001037525.2:c.658C>T, NM_001201401.1:c.589C>T, NM_001201402.1:c.580C>T, XM_005267501.1:c.490C>T, XR_245677.1:n.181C>TPathogenic01/18/2019 
42GALCEx7NM_000153.3:c.659G>Ap.Arg220Gln | p.R220QNM_000153.2:c.659G>A, NM_000153.3:c.659G>A, NM_001037525.1:c.659G>A, NM_001037525.2:c.659G>A, NM_001201401.1:c.590G>A, NM_001201402.1:c.581G>A, XM_005267501.1:c.491G>A, XR_245677.1:n.182G>AVOUS12/04/2018
43GALCEx7NM_000153.3:c.742G>Ap.Asp248Asn | p.D248NNM_000153.2:c.742G>A, NM_000153.3:c.742G>A, NM_001037525.1:c.742G>A, NM_001037525.2:c.742G>A, NM_001201401.1:c.673G>A, NM_001201402.1:c.664G>A, XM_005267501.1:c.574G>A, XR_245677.1:n.265G>ABenign01/18/2019 
44GALCEx7NM_000153.3:c.749T>Cp.Ile250Thr | p.I250TI234TPathogenic** 
45GALCEx8NM_000153.3:c.767G>Tp.Gly256Val | p.G256VVOUS**
46GALCEx8NM_000153.3:c.832A>Cp.Thr278Pro | p.T278PNM_000153.2:c.832A>C, NM_000153.3:c.832A>C, NM_001037525.1:c.832A>C, NM_001037525.2:c.832A>C, NM_001201401.1:c.763A>C, NM_001201402.1:c.754A>C, XM_005267501.1:c.664A>C, XR_245677.1:n.355A>CLikely pathogenic09/29/2015 
47GALCEx8NM_000153.3:c.857G>Ap.Gly286Asp | p.G286DNM_000153.2:c.857G>A, NM_000153.3:c.857G>A, NM_001037525.1:c.857G>A, NM_001037525.2:c.857G>A, NM_001201401.1:c.788G>A, NM_001201402.1:c.779G>A, XM_005267501.1:c.689G>A, XR_245677.1:n.380G>APathogenic** 
48GALCEx8NM_000153.3:c.862T>Cp.Trp288Arg | p.W288RNM_000153.2:c.862T>C, NM_000153.3:c.862T>C, NM_001037525.1:c.862T>C, NM_001037525.2:c.862T>C, NM_001201401.1:c.793T>C, NM_001201402.1:c.784T>C, XM_005267501.1:c.694T>C, XR_245677.1:n.385T>CLikely pathogenic07/23/2013 
49GALCEx8NM_000153.3:c.868C>Tp.Arg290Cys | p.R290CNM_000153.2:c.868C>T, NM_000153.3:c.868C>T, NM_001037525.1:c.868C>T, NM_001037525.2:c.868C>T, NM_001201401.1:c.799C>T, NM_001201402.1:c.790C>T, XM_005267501.1:c.700C>T, XR_245677.1:n.391C>TVOUS**
50GALCEx8NM_000153.3:c.908C>Tp.Ser303Phe | p.S303FNM_000153.2:c.908C>T, NM_000153.3:c.908C>T, NM_001037525.1:c.908C>T, NM_001037525.2:c.908C>T, NM_001201401.1:c.839C>T, NM_001201402.1:c.830C>T, S287F, XM_005267501.1:c.740C>T, XR_245677.1:n.431C>TPathogenic09/29/2015 
51GALCEx8NM_000153.3:c.908+33C>TVOUS**
52GALCEx9NM_000153.3:c.909-10A>GNM_000153.2:c.909-10A>G, NM_000153.3:c.909-10A>G, NM_001037525.1:c.909-10A>G, NM_001037525.2:c.909-10A>G, NM_001201401.1:c.840-10A>G, NM_001201402.1:c.831-10A>G, XM_005267501.1:c.741-10A>G, XR_245677.1:n.432-10A>GVOUS08/31/2012
53GALCEx9NM_000153.3:c.913A>Gp.Ile305Val | p.I305VNM_000153.2:c.913A>G, NM_000153.3:c.913A>G, NM_001037525.1:c.913A>G, NM_001037525.2:c.913A>G, NM_001201401.1:c.844A>G, NM_001201402.1:c.835A>G, XM_005267501.1:c.745A>G, XR_245677.1:n.436A>GBenign10/14/2014 
54GALCEx9NM_000153.3:c.967G>Tp.Gly323Trp | p.G323WVOUS**
55GALCEx9NM_000153.3:c.968G>Ap.Gly323Glu | p.G323EVOUS**
56GALCEx9NM_000153.3:c.973A>Gp.Met325Val | p.M325VNM_000153.2:c.973A>G, NM_000153.3:c.973A>G, NM_001037525.1:c.973A>G, NM_001037525.2:c.973A>G, NM_001201401.1:c.904A>G, NM_001201402.1:c.895A>G, XM_005267501.1:c.805A>G, XR_245677.1:n.496A>GVOUS02/15/2016
57GALCEx9NM_000153.3:c.984G>Ap.Gln328= | p.Q328=NM_000153.2:c.984G>A, NM_000153.3:c.984G>A, NM_001037525.1:c.984G>A, NM_001037525.2:c.984G>A, NM_001201401.1:c.915G>A, NM_001201402.1:c.906G>A, XM_005267501.1:c.816G>A, XR_245677.1:n.507G>ABenign04/03/2013 
58GALCEx9NM_000153.3:c.1006G>Ap.Val336Met | p.V336MVOUS**
59GALCEx10NM_000153.3:c.1034-4delTBenign** 
60GALCEx10NM_000153.3:c.1072C>Tp.Leu358= | p.L358=Benign** 
61GALCEx10NM_000153.3:c.1158_1161+6delCATGGTAAACPathogenic08/17/2016 
62GALCEx10NM_000153.3:c.1161+2T>GNM_000153.2:c.1161+2T>G, NM_000153.3:c.1161+2T>G, NM_001037525.1:c.1163T>G, NM_001037525.2:c.1163T>G, NM_001201401.1:c.1092+2T>G, NM_001201402.1:c.1083+2T>G, XM_005267501.1:c.993+2T>G, XR_245677.1:n.684+2T>GPathogenic11/01/2012 
63GALCEx10NM_000153.3:c.1161+38T>CBenign** 
64GALCEx11NM_000153.3:del 30kb Ex11_Ex1730kb delPathogenic02/02/2015 
65GALCEx11NM_000153.3:c.1162-33A>GBenign** 
66GALCEx11NM_000153.3:c.1162-4delTNM_000153.2:c.1162-4delT, NM_000153.3:c.1162-4delT, NM_001201401.1:c.1093-4delT, NM_001201402.1:c.1084-4delT, XM_005267501.1:c.994-4delT, XR_245677.1:n.685-4delTBenign08/01/2014 
67GALCEx11NM_000153.3:c.1186C>Tp.Arg396Trp | p.R396WVOUS**
68GALCEx11NM_000153.3:c.1236T>Ap.Val412= | p.V412=Benign** 
69GALCEx11NM_000153.3:c.1251+5G>ANM_000153.2:c.1251+5G>A, NM_000153.3:c.1251+5G>A, NM_001201401.1:c.1182+5G>A, NM_001201402.1:c.1173+5G>A, XM_005267501.1:c.1083+5G>A, XR_245677.1:n.774+5G>AVOUS08/29/2019
70GALCEx12NM_000153.3:c.1302C>Tp.Ser434= | p.S434=Benign** 
71GALCEx12NM_000153.3:c.1335_1336delATNM_000153.2:c.1335_1336delAT, NM_000153.3:c.1335_1336delAT, NM_001201401.1:c.1266_1267delAT, NM_001201402.1:c.1257_1258delATPathogenic** 
72GALCEx12NM_000153.3:c.1338+5G>CVOUS**
73GALCEx12NM_000153.3:c.1338+16A>GVOUS**
74GALCEx12NM_000153.3:c.1338+23T>CBenign** 
75GALCEx13NM_000153.3:c.1350C>Tp.Ser450= | p.S450=NM_000153.2:c.1350C>T, NM_000153.3:c.1350C>T, NM_001201401.1:c.1281C>T, NM_001201402.1:c.1272C>T, XM_005267501.1:c.1182C>T, XR_245677.1:n.873C>TBenign10/27/2015 
76GALCEx13NM_000153.3:c.1403C>Gp.Thr468Ser | p.T468SBenign03/14/2013 
77GALCEx13NM_000153.3:c.1472delANM_000153.2:c.1472delA, NM_000153.3:c.1472delA, NM_001201401.1:c.1403delA, NM_001201402.1:c.1394delAPathogenic** 
78GALCEx13NM_000153.3:c.1488_1489delTGIVS13+1_+2DelGT, NM_000153.2:c.1488_1489delTG, NM_000153.3:c.1488_1489delTG, NM_001201401.1:c.1419_1420delTG, NM_001201402.1:c.1410_1411delTG, XM_005267501.1:c.1320_1321delTG, XR_245677.1:n.1011_1012delTGPathogenic** 
79GALCEx13NM_000153.3:c.1488_1489+2delTGGTPathogenic08/22/2014 
80GALCEx13NM_000153.3:c.1489+1_1489+2delGTIVS13+1_+2DelGT, NM_000153.2:c.1489+1_1489+2delGT, NM_000153.3:c.1489+1_1489+2delGT, NM_001201401.1:c.1420+1_1420+2delGT, NM_001201402.1:c.1411+1_1411+2delGT, XM_005267501.1:c.1321+1_1321+2delGT, XR_245677.1:n.1012+1_1012+2delGTPathogenic** 
81GALCEx14NM_000153.3:c.1541T>Cp.Phe514Ser | p.F514SNM_000153.2:c.1541T>C, NM_000153.3:c.1541T>C, NM_001201401.1:c.1472T>C, NM_001201402.1:c.1463T>C, XM_005267501.1:c.1373T>C, XR_245677.1:n.1064T>CLikely pathogenic08/26/2016 
82GALCEx14NM_000153.3:c.1543G>Ap.Glu515Lys | p.E515KNM_000153.2:c.1543G>A, NM_000153.3:c.1543G>A, NM_001201401.1:c.1474G>A, NM_001201402.1:c.1465G>A, XM_005267501.1:c.1375G>A, XR_245677.1:n.1066G>ALikely pathogenic04/23/2019 
83GALCEx14NM_000153.3:c.1567C>Ap.Pro523Thr | p.P523TNM_000153.2:c.1567C>A, NM_000153.3:c.1567C>A, NM_001201401.1:c.1498C>A, NM_001201402.1:c.1489C>A, XM_005267501.1:c.1399C>A, XR_245677.1:n.1090C>AVOUS03/03/2016
84GALCEx14NM_000153.3:c.1586C>Tp.Thr529Met | p.T529MNM_000153.2:c.1586C>T, NM_000153.3:c.1586C>T, NM_001201401.1:c.1517C>T, NM_001201402.1:c.1508C>T, T513MPathogenic** 
85GALCEx14NM_000153.3:c.1591C>Tp.Arg531Cys | p.R531CPathogenic** 
86GALCEx14NM_000153.3:c.1592G>Ap.Arg531His | p.R531HNM_000153.2:c.1592G>A, NM_000153.3:c.1592G>A, NM_001201401.1:c.1523G>A, NM_001201402.1:c.1514G>A, XM_005267501.1:c.1424G>A, XR_245677.1:n.1115G>APathogenic01/23/2014 
87GALCEx14NM_000153.3:c.1620A>Gp.Thr540= | p.T540=NM_000153.2:c.1620A>G, NM_000153.3:c.1620A>G, NM_001201401.1:c.1551A>G, NM_001201402.1:c.1542A>G, XM_005267501.1:c.1452A>G, XR_245677.1:n.1143A>GBenign10/27/2015 
88GALCEx14NM_000153.3:c.1632T>Cp.Asp544= | p.D544=NM_000153.2:c.1632T>C, NM_000153.3:c.1632T>C, NM_001201401.1:c.1563T>C, NM_001201402.1:c.1554T>C, XM_005267501.1:c.1464T>C, XR_245677.1:n.1155T>CLikely benign10/11/2018 
89GALCEx14NM_000153.3:c.1657G>Ap.Gly553Arg | p.G553RNM_000153.2:c.1657G>A, NM_000153.3:c.1657G>A, NM_001201401.1:c.1588G>A, NM_001201402.1:c.1579G>A, XM_005267501.1:c.1489G>A, XR_245677.1:n.1180G>APathogenic** 
90GALCEx14NM_000153.3:c.1665C>Gp.Tyr555* | p.Y555XNM_000153.2:c.1665C>G, NM_000153.3:c.1665C>G, NM_001201401.1:c.1596C>G, NM_001201402.1:c.1587C>G, XM_005267501.1:c.1497C>G, XR_245677.1:n.1188C>GPathogenic08/30/2017 
91GALCEx15NM_000153.3:c.1671-15C>TNM_000153.2:c.1671-15C>T, NM_000153.3:c.1671-15C>T, NM_001201401.1:c.1602-15C>T, NM_001201402.1:c.1593-15C>T, XM_005267501.1:c.1503-15C>T, XR_245677.1:n.1194-15C>TBenign04/03/2013 
92GALCEx15NM_000153.3:c.1685T>Cp.Ile562Thr | p.I562TNM_000153.2:c.1685T>C, NM_000153.3:c.1685T>C, NM_001201401.1:c.1616T>C, NM_001201402.1:c.1607T>C, XM_005267501.1:c.1517T>C, XR_245677.1:n.1208T>CBenign12/12/2019 
93GALCEx15NM_000153.3:c.1695delTPathogenic** 
94GALCEx15NM_000153.3:c.1698A>Tp.Val566= | p.V566=NM_000153.2:c.1698A>T, NM_000153.3:c.1698A>T, NM_001201401.1:c.1629A>T, NM_001201402.1:c.1620A>T, XM_005267501.1:c.1530A>T, XR_245677.1:n.1221A>TBenign10/27/2015 
95GALCEx15NM_000153.3:c.1700A>Cp.Tyr567Ser | p.Y567SNM_000153.2:c.1700A>C, NM_000153.3:c.1700A>C, NM_001201401.1:c.1631A>C, NM_001201402.1:c.1622A>C, XM_005267501.1:c.1532A>C, XR_245677.1:n.1223A>C, Y551SPathogenic03/16/2016 
96GALCEx15NM_000153.3:c.1717A>Gp.Thr573Ala | p.T573ANM_000153.2:c.1717A>G, NM_000153.3:c.1717A>G, NM_001201401.1:c.1648A>G, NM_001201402.1:c.1639A>G, XM_005267501.1:c.1549A>G, XR_245677.1:n.1240A>GVOUS04/18/2016
97GALCEx15NM_000153.3:c.1723_1724insTPathogenic** 
98GALCEx15NM_000153.3:c.1814dupANM_000153.2:c.1814_1815insA, NM_000153.3:c.1814_1815insA, NM_001201401.1:c.1745_1746insA, NM_001201402.1:c.1736_1737insA, XM_005267501.1:c.1646_1647insA, XR_245677.1:n.1337_1338insAPathogenic** 
99GALCEx15NM_000153.3:c.1834+5C>GNM_000153.2:c.1834+5C>G, NM_000153.3:c.1834+5C>G, NM_001201401.1:c.1765+5C>G, NM_001201402.1:c.1756+5C>G, XM_005267501.1:c.1666+5C>G, XR_245677.1:n.1357+5C>GBenign10/27/2015 
100GALCEx15NM_000153.3:c.1834+1844delTBenign** 
101GALCEx16NM_000153.3:c.1886G>Tp.Trp629Leu | p.W629LVOUS**
102GALCEx16NM_000153.3:c.1896_1900delCACGNM_000153.2:c.1896_1900delCACG, NM_000153.3:c.1896_1900delCACG, NM_001201401.1:c.1827_1831delCACG, NM_001201402.1:c.1818_1822delCACG, XM_005267501.1:c.1728_1732delCACG, XR_245677.1:n.1419_1423delCACGPathogenic** 
103GALCEx17NM_000153.3:c.1912G>Ap.Gly638Ser | p.G638SNM_000153.2:c.1912G>A, NM_000153.3:c.1912G>A, NM_001201401.1:c.1843G>A, NM_001201402.1:c.1834G>A, XM_005267501.1:c.1744-879G>A, XR_245677.1:n.1435-879G>AVOUS11/19/2014
104GALCEx17NM_000153.3:c.1921A>Gp.Thr641Ala | p.T641ANM_000153.2:c.1921A>G, NM_000153.3:c.1921A>G, NM_001201401.1:c.1852A>G, NM_001201402.1:c.1843A>G, XM_005267501.1:c.1744-870A>G, XR_245677.1:n.1435-870A>GBenign10/27/2015 
105GALCEx17NM_000153.3:c.1964delCPathogenic** 
106GALCEx17NM_000153.3:c.2056T>Cp.*686Gln | p.X686QPathogenic** 

* 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.