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EmVClass

EGL's Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by EGL Genetics for that gene.
EGL 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  
1GALNSEx1NM_000512.4:c.93delCPathogenic** 
2GALNSEx1NM_000512.4:c.106_111delCTGCTCNM_000512.4:c.106_111delCTGCTCLikely pathogenic10/10/2014 
3GALNSEx1NM_000512.4:c.113T>Gp.Met38Arg | p.M38RVOUS**
4GALNSEx2NM_000512.4:c.121-31T>CNM_000512.4:c.121-31T>C, XM_005256301.1:c.121-31T>C, XM_005256302.1:c.139-31T>C, XM_005256303.1:c.-311-889T>CVOUS06/22/2020
5GALNSEx2NM_000512.4:c.121A>Tp.Met41Leu | p.M41LNM_000512.4:c.121A>T, XM_005256301.1:c.121A>T, XM_005256302.1:c.139A>T, XM_005256303.1:c.-311-858A>TPathogenic** 
6GALNSEx2NM_000512.4:c.124G>Tp.Gly42* | p.G42XPathogenic** 
7GALNSEx2NM_000512.4:c.139G>Ap.Gly47Arg | p.G47RNM_000512.4:c.139G>A, XM_005256301.1:c.139G>A, XM_005256302.1:c.157G>A, XM_005256303.1:c.-311-840G>APathogenic12/03/2015 
8GALNSEx2NM_000512.4:c.199C>Ap.Leu67Met | p.L67MNM_000512.4:c.199C>ABenign11/14/2013 
9GALNSEx2NM_000512.4:c.218A>Gp.Tyr73Cys | p.Y73CNM_000512.4:c.218A>GVOUS07/26/2013
10GALNSEx2NM_000512.4:c.230C>Gp.Pro77Arg | p.P77RPathogenic** 
11GALNSEx2NM_000512.4:c.239C>Tp.Ser80Leu | p.S80LNM_000512.4:c.239C>T, XM_005256301.1:c.239C>T, XM_005256302.1:c.257C>T, XM_005256303.1:c.-311-740C>TPathogenic** 
12GALNSEx2NM_000512.4:c.244+19C>TNM_000512.4:c.244+19C>T, XM_005256302.1:c.262+19C>T, XM_005256303.1:c.-311-716C>TBenign11/06/2017 
13GALNSEx2NM_000512.4:c.244+43A>GBenign** 
14GALNSEx2NM_000512.4:c.244+49C>TNM_000512.4:c.244+49C>T, XM_005256301.1:c.244+49C>T, XM_005256302.1:c.262+49C>T, XM_005256303.1:c.-311-686C>TBenign02/01/2017 
15GALNSEx3NM_000512.4:c.245-35_245-33delCTTVOUS**
16GALNSEx3NM_000512.4:c.245C>Tp.Ser82Leu | p.S82LNM_000512.4:c.245C>TVOUS01/05/2015
17GALNSEx3NM_000512.4:c.266G>Tp.Gly89Val | p.G89VVOUS04/09/2013
18GALNSEx3NM_000512.4:c.281G>Ap.Arg94His | p.R94HNM_000512.4:c.281G>A, XM_005256302.1:c.299G>A, XM_005256303.1:c.-275G>AVOUS01/23/2014
19GALNSEx3NM_000512.4:c.318C>Tp.Asn106= | p.N106=NM_000512.4:c.318C>T, XM_005256301.1:c.318C>T, XM_005256302.1:c.336C>T, XM_005256303.1:c.-238C>TBenign11/06/2017 
20GALNSEx3NM_000512.4:c.319+15G>TNM_000512.4:c.319+15G>T, XM_005256301.1:c.319+15G>T, XM_005256302.1:c.337+15G>T, XM_005256303.1:c.-237+15G>TVOUS11/07/2014
21GALNSEx4NM_000512.4:c.337A>Tp.Ile113Phe | p.I113FNM_000512.4:c.337A>T, XM_005256301.1:c.337A>T, XM_005256302.1:c.355A>T, XM_005256303.1:c.-219A>TPathogenic02/22/2016 
22GALNSEx4NM_000512.4:c.346G>Ap.Gly116Ser | p.G116SPathogenic** 
23GALNSEx4NM_000512.4:c.364C>Tp.Gln122* | p.Q122XPathogenic** 
24GALNSEx4NM_000512.4:c.388_390delAAGVOUS**
25GALNSEx4NM_000512.4:c.405delCAAGATTGTCGGCAAGTGGNM_000512.4:c.405delCAAGATTGTCGGCAAGTGG, XM_005256301.1:c.405delCAAGATTGTCGGCAAGTGG, XM_005256302.1:c.423delCAAGATTGTCGGCAAGTGG, XM_005256303.1:c.-151delCAAGATTGTCGGCAAGTGGPathogenic** 
26GALNSEx4NM_000512.4:c.405_422+1delCAAGATTGTCGGCAAGTGGNM_000512.4:c.405_422+1delCAAGATTGTCGGCAAGTGG, XM_005256301.1:c.405_422+1delCAAGATTGTCGGCAAGTGG, XM_005256302.1:c.423_440+1delCAAGATTGTCGGCAAGTGG, XM_005256303.1:c.-151_-134+1delCAAGATTGTCGGCAAGTGGPathogenic06/13/2013 
27GALNSEx4NM_000512.4:c.409_420delATTGTCGGCAAGPathogenic** 
28GALNSEx4NM_000512.4:c.415G>Ap.Gly139Ser | p.G139SNM_000512.4:c.415G>A, XM_005256301.1:c.415G>A, XM_005256302.1:c.433G>A, XM_005256303.1:c.-141G>APathogenic11/10/2017 
29GALNSEx4NM_000512.4:c.421T>Ap.Trp141Arg | p.W141RNM_000512.4:c.421T>A, XM_005256301.1:c.421T>A, XM_005256302.1:c.439T>A, XM_005256303.1:c.-135T>APathogenic02/05/2015 
30GALNSEx4NM_000512.4:c.422+2_422+8delTAAGTCTVOUS**
31GALNSEx5NM_000512.4:c.463G>Ap.Gly155Arg | p.G155RNM_000512.4:c.463G>APathogenic06/13/2013 
32GALNSEx5NM_000512.4:c.466T>Cp.Phe156Leu | p.F156LVOUS**
33GALNSEx5NM_000512.4:c.477G>Ap.Trp159* | p.W159XPathogenic05/14/2013 
34GALNSEx5NM_000512.4:c.485C>Tp.Ser162Phe | p.S162FNM_000512.4:c.485C>T, XM_005256301.1:c.485C>T, XM_005256302.1:c.503C>T, XM_005256303.1:c.-71C>TPathogenic03/07/2017 
35GALNSEx5NM_000512.4:c.489delCp.Asn164Thrfs*35 | p.N164TfsX35NM_000512.4:c.489delC, XM_005256301.1:c.489delC, XM_005256302.1:c.507delC, XM_005256303.1:c.-67delCPathogenic** 
36GALNSEx5NM_000512.4:c.498C>Gp.His166Gln | p.H166QPathogenic** 
37GALNSEx5NM_000512.4:c.502G>Ap.Gly168Arg | p.G168RNM_000512.4:c.502G>A, XM_005256301.1:c.502G>A, XM_005256302.1:c.520G>A, XM_005256303.1:c.-54G>APathogenic** 
38GALNSEx5NM_000512.4:c.503G>Ap.Gly168Glu | p.G168EVOUS**
39GALNSEx5NM_000512.4:c.510T>Cp.Tyr170= | p.Y170=NM_000512.4:c.510T>C, XM_005256302.1:c.528T>C, XM_005256303.1:c.-46T>CBenign11/12/2012 
40GALNSEx5NM_000512.4:c.566+5T>CBenign** 
41GALNSEx5NM_000512.4:c.566+30C>TVOUS**
42GALNSEx6NM_000512.4:c.569A>Gp.Tyr190Cys | p.Y190CNM_000512.4:c.569A>G, XM_005256301.1:c.569A>G, XM_005256302.1:c.587A>G, XM_005256303.1:c.14A>GVOUS09/08/2016
43GALNSEx6NM_000512.4:c.599C>Tp.Thr200Met | p.T200MNM_000512.4:c.599C>T, XM_005256301.1:c.599C>T, XM_005256302.1:c.617C>T, XM_005256303.1:c.44C>TBenign07/25/2014 
44GALNSEx6NM_000512.4:c.611A>Gp.Asn204Ser | p.N204SVOUS**
45GALNSEx6NM_000512.4:c.612C>Gp.Asn204Lys | p.N204KPathogenic** 
46GALNSEx6NM_000512.4:c.633+45C>TVOUS**
47GALNSEx7NM_000512.4:c.634-20C>TNM_000512.4:c.634-20C>T, XM_005256302.1:c.652-20C>T, XM_005256303.1:c.79-20C>TBenign01/26/2017 
48GALNSEx7NM_000512.4:c.634-19G>ANM_000512.4:c.634-19G>A, XM_005256302.1:c.652-19G>A, XM_005256303.1:c.79-19G>ABenign11/06/2017 
49GALNSEx7NM_000512.4:c.665G>Ap.Arg222Gln | p.R222QNM_000512.4:c.665G>A, XM_005256301.1:c.665G>A, XM_005256302.1:c.683G>A, XM_005256303.1:c.110G>AVOUS02/02/2015
50GALNSEx7NM_000512.4:c.692C>Gp.Ala231Gly | p.A231GNM_000512.4:c.692C>G, XM_005256301.1:c.692C>G, XM_005256302.1:c.710C>G, XM_005256303.1:c.137C>GBenign01/26/2017 
51GALNSEx7NM_000512.4:c.697G>Ap.Asp233Asn | p.D233NPathogenic** 
52GALNSEx7NM_000512.4:c.700G>Ap.Ala234Thr | p.A234TVOUS**
53GALNSEx7NM_000512.4:c.704C>Ap.Thr235Lys | p.T235KNM_000512.4:c.704C>A, XM_005256301.1:c.704C>A, XM_005256302.1:c.722C>A, XM_005256303.1:c.149C>ALikely pathogenic01/30/2013 
54GALNSEx7NM_000512.4:c.707A>Gp.His236Arg | p.H236RNM_000512.4:c.707A>GVOUS11/07/2013
55GALNSEx7NM_000512.4:c.708C>Tp.His236= | p.H236=NM_000512.4:c.708C>T, XM_005256301.1:c.708C>T, XM_005256302.1:c.726C>T, XM_005256303.1:c.153C>TBenign11/06/2017 
56GALNSEx7NM_000512.4:c.723C>Tp.Ala241= | p.A241=NM_000512.4:c.723C>T, XM_005256301.1:c.723C>T, XM_005256302.1:c.741C>T, XM_005256303.1:c.168C>TBenign06/25/2015 
57GALNSEx7NM_000512.4:c.740G>Ap.Gly247Asp | p.G247DNM_000512.4:c.740G>A, XM_005256301.1:c.740G>A, XM_005256302.1:c.758G>A, XM_005256303.1:c.185G>ALikely pathogenic02/22/2016 
58GALNSEx7NM_000512.4:c.758+22C>TBenign** 
59GALNSEx8NM_000512.4:c.775C>Ap.Arg259= | p.R259=NM_000512.4:c.775C>A, XM_005256301.1:c.775C>A, XM_005256302.1:c.793C>A, XM_005256303.1:c.220C>ABenign05/20/2016 
60GALNSEx8NM_000512.4:c.776C>Ap.Arg259= | p.R259=Benign** 
61GALNSEx8NM_000512.4:c.776G>Ap.Arg259Gln | p.R259QNM_000512.4:c.776G>APathogenic** 
62GALNSEx8NM_000512.4:c.840_867del2Pathogenic** 
63GALNSEx8NM_000512.4:c.842_868del27Pathogenic** 
64GALNSEx8NM_000512.4:c.846C>Tp.Phe282= | p.F282=NM_000512.4:c.846C>T, XM_005256302.1:c.864C>T, XM_005256303.1:c.291C>TBenign11/12/2012 
65GALNSEx8NM_000512.4:c.860C>Tp.Ser287Leu | p.S287LPathogenic** 
66GALNSEx8NM_000512.4:c.868G>Ap.Gly290Ser | p.G290SPathogenic** 
67GALNSEx8NM_000512.4:c.898+1G>CPathogenic** 
68GALNSEx8NM_000512.4:c.898+25C>GNM_000512.4:c.898+25C>G, XM_005256301.1:c.898+25C>G, XM_005256302.1:c.916+25C>G, XM_005256303.1:c.343+25C>GBenign02/03/2017 
69GALNSEx8NM_000512.4:c.898+42G>CNM_000512.4:c.898+42G>C, XM_005256301.1:c.898+42G>C, XM_005256302.1:c.916+42G>C, XM_005256303.1:c.343+42G>CBenign02/03/2017 
70GALNSEx9NM_000512.4:c.899-66_907delinsACTCAGTGPathogenic09/08/2016 
71GALNSEx9NM_000512.4:c.899-6T>CNM_000512.4:c.899-6T>C, XM_005256301.1:c.899-6T>C, XM_005256302.1:c.917-6T>C, XM_005256303.1:c.344-6T>CVOUS10/28/2015
72GALNSEx9NM_000512.4:c.899-2A>GPathogenic** 
73GALNSEx9NM_000512.4:c.901G>Tp.Gly301Cys | p.G301CNM_000512.4:c.901G>T, XM_005256301.1:c.901G>T, XM_005256302.1:c.919G>T, XM_005256303.1:c.346G>TPathogenic05/06/2019 
74GALNSEx9NM_000512.4:c.938C>Tp.Thr313Met | p.T313MVOUS**
75GALNSEx9NM_000512.4:c.953T>Gp.Met318Arg | p.M318RNM_000512.4:c.953T>G, XM_005256301.1:c.953T>G, XM_005256302.1:c.971T>G, XM_005256303.1:c.398T>GPathogenic06/03/2019 
76GALNSEx9NM_000512.4:c.975G>Tp.Trp325Cys | p.W325CPathogenic** 
77GALNSEx9NM_000512.4:c.1002+17C>TNM_000512.4:c.1002+17C>TBenign11/14/2013 
78GALNSEx10NM_000512.4:c.1113C>Tp.Thr371= | p.T371=NM_000512.4:c.1113C>T, XM_005256301.1:c.1113C>T, XM_005256302.1:c.1131C>T, XM_005256303.1:c.558C>TVOUS08/28/2015
79GALNSEx10NM_000512.4:c.1127G>Ap.Arg376Gln | p.R376QNM_000512.4:c.1127G>A, XM_005256301.1:c.1127G>A, XM_005256302.1:c.1145G>A, XM_005256303.1:c.572G>AVOUS04/18/2016
80GALNSEx11NM_000512.4:c.1156C>Tp.Arg386Cys | p.R386CNM_000512.4:c.1156C>T, XM_005256302.1:c.1174C>T, XM_005256303.1:c.601C>TPathogenic01/23/2014 
81GALNSEx11NM_000512.4:c.1171A>Gp.Met391Val | p.M391VNM_000512.4:c.1171A>G, XM_005256302.1:c.1189A>G, XM_005256303.1:c.616A>GPathogenic06/13/2013 
82GALNSEx11NM_000512.4:c.1175C>Tp.Ala392Val | p.A392VPathogenic03/28/2013 
83GALNSEx11NM_000512.4:c.1176_1178delGGCp.Ala393del | p.A393delNM_000512.4:c.1176_1178delGG, NM_000512.4:c.1176_1178delGGC, XM_005256301.1:c.1176_1178delGGC, XM_005256302.1:c.1194_1196delGGC, XM_005256303.1:c.621_623delGGCVOUS08/31/2017
84GALNSEx11NM_000512.4:c.1176G>Ap.Ala392= | p.A392=NM_000512.4:c.1176G>AVOUS07/26/2013
85GALNSEx11NM_000512.4:c.1177G>Tp.Ala393Ser | p.A393SNM_000512.4:c.1177G>T, XM_005256302.1:c.1195G>T, XM_005256303.1:c.622G>TBenign10/24/2017 
86GALNSEx11NM_000512.4:c.1242+36C>TBenign** 
87GALNSEx12NM_000512.4:c.1243-45G>AVOUS**
88GALNSEx12NM_000512.4:c.1247T>Cp.Ile416Thr | p.I416TNM_000512.4:c.1247T>C, XM_005256301.1:c.1247T>C, XM_005256302.1:c.1265T>C, XM_005256303.1:c.692T>CVOUS03/12/2019
89GALNSEx12NM_000512.4:c.1354T>Ap.Phe452Ile | p.F452INM_000512.4:c.1354T>AVOUS07/26/2013
90GALNSEx13NM_000512.4:c.1376C>Tp.Ala459Val | p.A459VBenign** 
91GALNSEx13NM_000512.4:c.1413C>Tp.Val471= | p.V471=NM_000512.4:c.1413C>TBenign11/14/2013 
92GALNSEx13NM_000512.4:c.1421A>Cp.Gln474Pro | p.Q474PNM_000512.4:c.1421A>C, XM_005256301.1:c.1421A>C, XM_005256302.1:c.1439A>C, XM_005256303.1:c.866A>CVOUS02/02/2015
93GALNSEx13NM_000512.4:c.1429_1455delGAGGCCTTGGTCCCCGCGCAGCCCCAGVOUS**
94GALNSEx13NM_000512.4:c.1431G>Ap.Glu477= | p.E477=NM_000512.4:c.1431G>A, XM_005256301.1:c.1431G>A, XM_005256302.1:c.1449G>A, XM_005256303.1:c.876G>ABenign01/26/2017 
95GALNSEx13NM_000512.4:c.1438G>Tp.Val480Phe | p.V480FNM_000512.4:c.1438G>T, XM_005256301.1:c.1438G>T, XM_005256302.1:c.1456G>T, XM_005256303.1:c.883G>TBenign11/06/2015 
96GALNSEx13NM_000512.4:c.1462G>Ap.Val488Met | p.V488MNM_000512.4:c.1462G>A, XM_005256301.1:c.1462G>A, XM_005256302.1:c.1480G>A, XM_005256303.1:c.907G>ABenign02/23/2015 
97GALNSEx13NM_000512.4:c.1474G>Ap.Ala492Thr | p.A492TBenign** 
98GALNSEx13NM_000512.4:c.1480A>Gp.Met494Val | p.M494VNM_000512.4:c.1480A>G, XM_005256301.1:c.1480A>G, XM_005256302.1:c.1498A>G, XM_005256303.1:c.925A>GPathogenic** 
99GALNSEx14NM_000512.4:c.*36G>ANM_000485.2:c.-2504G>A, NM_000512.4:c.*36G>A, NM_001030018.1:c.-2504G>A, XM_005256301.1:c.*2769G>A, XM_005256302.1:c.*36G>A, XM_005256303.1:c.*36G>ABenign** 
100GALNSEx14NM_000512.4:c.1483-35delAVOUS06/27/2019
101GALNSEx14NM_000512.4:c.1483-32G>CBenign08/07/2019 
102GALNSEx14NM_000512.4:c.1498G>Tp.Gly500Cys | p.G500CNM_000485.2:c.-2611G>T, NM_000512.4:c.1498G>T, NM_001030018.1:c.-2611G>T, XM_005256301.1:c.*2662G>T, XM_005256302.1:c.1516G>T, XM_005256303.1:c.943G>TVOUS**
103GALNSEx14NM_000512.4:c.1502G>Ap.Cys501Tyr | p.C501YNM_000485.2:c.-2607G>A, NM_000512.4:c.1502G>A, NM_001030018.1:c.-2607G>A, XM_005256301.1:c.*2666G>A, XM_005256302.1:c.1520G>A, XM_005256303.1:c.947G>APathogenic** 
104GALNSEx14NM_000512.4:c.1513G>Ap.Gly505Arg | p.G505RNM_000485.2:c.-2596G>A, NM_000512.4:c.1513G>A, NM_001030018.1:c.-2596G>A, XM_005256301.1:c.*2677G>A, XM_005256302.1:c.1531G>A, XM_005256303.1:c.958G>AVOUS01/26/2015
105GALNSEx14NM_000512.4:c.1519T>Cp.Cys507Arg | p.C507RVOUS**
106GALNSEx14NM_000512.4:c.1520G>Tp.Cys507Phe | p.C507FNM_000485.2:c.-2589G>T, NM_000512.4:c.1520G>T, NM_001030018.1:c.-2589G>TVOUS11/14/2013
107GALNSEx14NM_000512.4:c.1558T>Cp.Trp520Arg | p.W520RNM_000485.2:c.-2551T>C, NM_000512.4:c.1558T>C, NM_001030018.1:c.-2551T>CVOUS06/17/2013
108GALNSEx14NM_000512.4:c.1559G>Ap.Trp520* | p.W520XPathogenic12/14/2012 
109GALNSEx14NM_000512.4:c.1567T>Gp.*523Glu | p.X523EVOUS**

* 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 EGL 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.2020-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 EGL clinical report and should be approached with caution. Only variants identified at EGL are listed in the EmVClass. If you intend to use EGL's classification for publication purposes please contact the laboratory for permission.