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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  
1B3GALT6Ex1NM_080605.3:c.22T>Gp.Trp8Gly | p.W8GNM_016176.3:c.-562A>C, NM_016547.2:c.-562A>C, NM_080605.3:c.22T>G, XM_005244756.1:c.-562A>C, XR_241031.1:n.-295A>CVOUS02/05/2015
2B3GALT6Ex1NM_080605.3:c.77T>Cp.Leu26Pro | p.L26PNM_016176.3:c.-617A>G, NM_016547.2:c.-617A>G, NM_080605.3:c.77T>C, XM_005244756.1:c.-617A>G, XR_241031.1:n.-350A>GVOUS01/18/2017
3B3GALT6Ex1NM_080605.3:c.138C>Tp.Ser46= | p.S46=NM_016176.3:c.-678G>A, NM_016547.2:c.-678G>A, NM_080605.3:c.138C>T, XM_005244756.1:c.-678G>A, XR_241031.1:n.-411G>ALikely benign02/10/2015 
4B3GALT6Ex1NM_080605.3:c.180A>Gp.Ala60= | p.A60=NM_016176.3:c.-720T>C, NM_016547.2:c.-720T>C, NM_080605.3:c.180A>G, XM_005244756.1:c.-720T>C, XR_241031.1:n.-453T>CVOUS06/21/2016
5B3GALT6Ex1NM_080605.3:c.475T>Cp.Ser159Pro | p.S159PNM_016176.3:c.-1015A>G, NM_016547.2:c.-1015A>G, NM_080605.3:c.475T>C, XM_005244756.1:c.-1015A>G, XR_241031.1:n.-748A>GVOUS12/21/2016
6B3GALT6Ex1NM_080605.3:c.522G>Cp.Glu174Asp | p.E174DNM_016176.3:c.-1062C>G, NM_016547.2:c.-1062C>G, NM_080605.3:c.522G>C, XM_005244756.1:c.-1062C>G, XR_241031.1:n.-795C>GBenign03/04/2016 
7B3GALT6Ex1NM_080605.3:c.585G>Tp.Gly195= | p.G195=NM_016176.3:c.-1125C>A, NM_016547.2:c.-1125C>A, NM_080605.3:c.585G>T, XM_005244756.1:c.-1125C>A, XR_241031.1:n.-858C>AVOUS05/25/2018
8B3GALT6Ex1NM_080605.3:c.587G>Tp.Gly196Val | p.G196VNM_016176.3:c.-1127C>A, NM_016547.2:c.-1127C>A, NM_080605.3:c.587G>T, XM_005244756.1:c.-1127C>A, XR_241031.1:n.-860C>AVOUS11/10/2016
9B3GALT6Ex1NM_080605.3:c.699C>Tp.Asp233= | p.D233=NM_016176.3:c.-1239G>A, NM_016547.2:c.-1239G>A, NM_080605.3:c.699C>T, XM_005244756.1:c.-1239G>A, XR_241031.1:n.-972G>AVOUS09/05/2016
10B3GALT6Ex1NM_080605.3:c.753G>Ap.Pro251= | p.P251=NM_016176.3:c.-1293C>T, NM_016547.2:c.-1293C>T, NM_080605.3:c.753G>A, XM_005244756.1:c.-1293C>T, XR_241031.1:n.-1026C>TVOUS10/04/2015
11B3GALT6Ex1NM_080605.3:c.834G>Ap.Thr278= | p.T278=NM_016176.3:c.-1374C>T, NM_016547.2:c.-1374C>T, NM_080605.3:c.834G>A, XM_005244756.1:c.-1374C>T, XR_241031.1:n.-1107C>TVOUS10/08/2015
12B3GALT6Ex1NM_080605.3:c.853G>Ap.Asp285Asn | p.D285NNM_016176.3:c.-1393C>T, NM_016547.2:c.-1393C>T, NM_080605.3:c.853G>A, XM_005244756.1:c.-1393C>T, XR_241031.1:n.-1126C>TVOUS10/08/2015
13B3GALT6Ex1NM_080605.3:c.909G>Ap.Glu303= | p.E303=NM_016176.3:c.-1449C>T, NM_016547.2:c.-1449C>T, NM_080605.3:c.909G>A, XM_005244756.1:c.-1449C>T, XR_241031.1:n.-1182C>TLikely benign02/10/2015 
14B4GALT1Ex1NM_001497.3:c.27C>Ap.Ser9Arg | p.S9RVOUS**
15B4GALT1Ex1NM_001497.3:c.412+11G>TBenign** 
16B4GALT1Ex1NM_001497.3:c.412+44dupCNM_001497.3:c.412+44_412+45insC, XM_005251440.1:c.412+44_412+45insC, XR_242540.1:n.-1129_-1128insG, XR_242541.1:n.-1164_-1163insGVOUS02/01/2017
17B4GALT1Ex2NM_001497.3:c.517G>Ap.Val173Ile | p.V173IVOUS10/09/2012
18B4GALT1Ex2NM_001497.3:c.597C>Tp.His199= | p.H199=Benign09/07/2012 
19B4GALT1Ex4NM_001497.3:c.864_867delTGTCinsGGTGNM_001497.3:c.864_867delinsGGTG, XM_005251440.1:c.837-2208_837-2205delinsGGTGVOUS06/16/2015
20B4GALT1Ex4NM_001497.3:c.864T>Gp.Gly288= | p.G288=NM_001497.3:c.864T>G, XM_005251440.1:c.837-2208T>GVOUS06/16/2015
21B4GALT1Ex4NM_001497.3:c.867C>Gp.Val289= | p.V289=NM_001497.3:c.867C>G, XM_005251440.1:c.837-2205C>GVOUS06/16/2015
22B4GALT7Ex1NM_007255.2:c.35C>Tp.Pro12Leu | p.P12LNM_007255.1:c.35C>T, NM_007255.2:c.35C>T, NM_017510.4:c.*4829C>T, XM_005265805.1:c.-3412C>TVOUS05/30/2014
23B4GALT7Ex1NM_007255.2:c.38G>Ap.Trp13* | p.W13XNM_007255.1:c.38G>A, NM_007255.2:c.38G>A, NM_017510.4:c.*4832G>A, XM_005265805.1:c.-3409G>AVOUS04/30/2020
24B4GALT7Ex2NM_007255.2:c.328G>Ap.Val110Ile | p.V110INM_007255.1:c.328G>A, NM_007255.2:c.328G>A, XM_005265805.1:c.-15G>AVOUS06/25/2015
25B4GALT7Ex2NM_007255.2:c.411C>Tp.Phe137= | p.F137=NM_007255.1:c.411C>T, NM_007255.2:c.411C>T, XM_005265805.1:c.69C>TBenign12/10/2015 
26B4GALT7Ex2NM_007255.2:c.413+6G>ANM_007255.1:c.413+6G>A, NM_007255.2:c.413+6G>A, XM_005265805.1:c.71+6G>AVOUS10/20/2015
27B4GALT7Ex3NM_007255.2:c.489C>Tp.Asp163= | p.D163=NM_007255.1:c.489C>T, NM_007255.2:c.489C>T, XM_005265805.1:c.147C>TVOUS02/21/2017
28B4GALT7Ex4NM_007255.2:c.687C>Tp.Asp229= | p.D229=NM_007255.1:c.687C>T, NM_007255.2:c.687C>T, XM_005265805.1:c.345C>TVOUS12/23/2014
29B4GALT7Ex5NM_007255.2:c.791G>Ap.Arg264Gln | p.R264QNM_007255.1:c.791G>A, NM_007255.2:c.791G>A, XM_005265805.1:c.449G>AVOUS06/23/2020
30GALTEx1NM_000155.3:del 5kb Ex1_Ex11Pathogenic11/21/2020 
31GALTEx1NM_000155.3:c.18delCp.Asp7Ilefs*43 | p.D7IfsX43NM_000155.2:c.18delC, NM_000155.3:c.18delC, NM_001258332.1:c.-185delCPathogenic** 
32GALTEx1NM_000155.3:c.41delCinsTTc.41delCInsTTPathogenic03/15/2013 
33GALTEx1NM_000155.3:c.71_72insANM_000155.2:c.71_72insA, NM_000155.3:c.71_72insA, NM_001258332.1:c.-132_-131insA, XM_005251430.1:c.71_72insA, XM_005251431.1:c.71_72insA, XM_005251432.1:c.-155_-154insA, XM_005251433.1:c.-525_-524insA, XM_005251434.1:c.-400_-399insA, XM_005251435.1:c.71_72insAPathogenic10/09/2015 
34GALTEx1NM_000155.3:c.74G>Cp.Arg25Pro | p.R25PNM_000155.2:c.74G>C, NM_000155.3:c.74G>C, NM_001258332.1:c.-129G>C, XM_005251430.1:c.74G>C, XM_005251431.1:c.74G>C, XM_005251432.1:c.-152G>C, XM_005251433.1:c.-522G>C, XM_005251434.1:c.-397G>C, XM_005251435.1:c.74G>CVOUS09/25/2015
35GALTEx1NM_000155.3:c.82+2delTNM_000155.2:c.82+2delT, NM_000155.3:c.82+2delT, NM_001258332.1:c.-121+2delT, XM_005251430.1:c.82+2delT, XM_005251431.1:c.82+2delT, XM_005251432.1:c.-142delT, XM_005251433.1:c.-514+2delT, XM_005251434.1:c.-389+2delT, XM_005251435.1:c.82+2delTPathogenic04/29/2015 
36GALTEx1NM_000155.3:c.-116-3_-116delGTCANM_000155.2:c.-119_-116delGTCA, NM_000155.3:c.-119_-116delGTCA, NM_001258332.1:c.-321_-318delGTCA, XM_005251430.1:c.-119_-116delGTCA, XM_005251431.1:c.-119_-116delGTCA, XM_005251432.1:c.-344_-341delGTCA, XM_005251433.1:c.-714_-711delGTCA, XM_005251434.1:c.-589_-586delGTCA, XM_005251435.1:c.-119_-116delGTCAOther Reportable01/21/2021 
37GALTEx2NM_000155.3:c.83-3C>GNM_000155.2:c.83-3C>G, NM_000155.3:c.83-3C>G, NM_001258332.1:c.-120-3C>G, XM_005251430.1:c.83-3C>G, XM_005251431.1:c.83-3C>G, XM_005251432.1:c.-62-3C>G, XM_005251433.1:c.-513-3C>G, XM_005251434.1:c.-388-3C>G, XM_005251435.1:c.83-3C>GVOUS09/29/2015
38GALTEx2NM_000155.3:c.86A>Gp.His29Arg | p.H29RNM_000155.2:c.86A>G, NM_000155.3:c.86A>G, NM_001258332.1:c.-117A>G, XM_005251430.1:c.86A>G, XM_005251431.1:c.86A>G, XM_005251432.1:c.-59A>G, XM_005251433.1:c.-510A>G, XM_005251434.1:c.-385A>G, XM_005251435.1:c.86A>GVOUS09/24/2018
39GALTEx2NM_000155.3:c.100T>Ap.Tyr34Asn | p.Y34NNM_000155.2:c.100T>A, NM_000155.3:c.100T>A, NM_001258332.1:c.-103T>A, XM_005251430.1:c.100T>A, XM_005251431.1:c.100T>A, XM_005251432.1:c.-45T>A, XM_005251433.1:c.-496T>A, XM_005251434.1:c.-371T>A, XM_005251435.1:c.100T>APathogenic04/18/2016 
40GALTEx2NM_000155.3:c.101_110delACAACCCGCNM_000155.2:c.101_110delACAACCCGC, NM_000155.3:c.101_110delACAACCCGC, NM_001258332.1:c.-102_-93delACAACCCGC, XM_005251430.1:c.101_110delACAACCCGC, XM_005251431.1:c.101_110delACAACCCGC, XM_005251432.1:c.-44_-35delACAACCCGC, XM_005251433.1:c.-495_-486delACAACCCGC, XM_005251434.1:c.-370_-361delACAACCCGC, XM_005251435.1:c.101_110delACAACCCGCPathogenic** 
41GALTEx2NM_000155.3:c.107C>Tp.Pro36Leu | p.P36LNM_000155.2:c.107C>T, NM_000155.3:c.107C>T, NM_001258332.1:c.-96C>T, XM_005251430.1:c.107C>T, XM_005251431.1:c.107C>T, XM_005251432.1:c.-38C>T, XM_005251433.1:c.-489C>T, XM_005251434.1:c.-364C>T, XM_005251435.1:c.107C>TVOUS04/16/2015
42GALTEx2NM_000155.3:c.113A>Cp.Gln38Pro | p.Q38PNM_000155.2:c.113A>C, NM_000155.3:c.113A>C, NM_001258332.1:c.-90A>CPathogenic** 
43GALTEx2NM_000155.3:c.118G>Ap.Glu40Lys | p.E40KNM_000155.2:c.118G>A, NM_000155.3:c.118G>A, NM_001258332.1:c.-85G>A, XM_005251430.1:c.118G>A, XM_005251431.1:c.118G>A, XM_005251432.1:c.-27G>A, XM_005251433.1:c.-478G>A, XM_005251434.1:c.-353G>A, XM_005251435.1:c.118G>APathogenic04/06/2017 
44GALTEx2NM_000155.3:c.118G>Tp.Glu40* | p.E40XPathogenic** 
45GALTEx2NM_000155.3:c.119A>Tp.Glu40Val | p.E40VNM_000155.2:c.119A>T, NM_000155.3:c.119A>T, NM_001258332.1:c.-84A>T, XM_005251430.1:c.119A>T, XM_005251431.1:c.119A>T, XM_005251432.1:c.-26A>T, XM_005251433.1:c.-477A>T, XM_005251434.1:c.-352A>T, XM_005251435.1:c.119A>TVOUS01/20/2020
46GALTEx2NM_000155.3:c.132delGPathogenic** 
47GALTEx2NM_000155.3:c.134C>Tp.Ser45Leu | p.S45LNM_000155.2:c.134C>T, NM_000155.3:c.134C>T, NM_001258332.1:c.-69C>TVOUS09/18/2015
48GALTEx2NM_000155.3:c.139C>Gp.His47Asp | p.H47DNM_000155.2:c.139C>G, NM_000155.3:c.139C>G, NM_001258332.1:c.-64C>G, XM_005251430.1:c.139C>G, XM_005251431.1:c.139C>G, XM_005251432.1:c.-6C>G, XM_005251433.1:c.-457C>G, XM_005251434.1:c.-332C>G, XM_005251435.1:c.139C>GVOUS09/18/2015
49GALTEx2NM_000155.3:c.142C>Tp.Arg48Cys | p.R48CNM_000155.2:c.142C>T, NM_000155.3:c.142C>T, NM_001258332.1:c.-61C>T, XM_005251430.1:c.142C>T, XM_005251431.1:c.142C>T, XM_005251432.1:c.-3C>T, XM_005251433.1:c.-454C>T, XM_005251434.1:c.-329C>T, XM_005251435.1:c.142C>TVOUS09/18/2015
50GALTEx2NM_000155.3:c.143G>Cp.Arg48Pro | p.R48PNM_000155.2:c.143G>C, NM_000155.3:c.143G>C, NM_001258332.1:c.-60G>C, XM_005251430.1:c.143G>C, XM_005251431.1:c.143G>C, XM_005251432.1:c.-2G>C, XM_005251433.1:c.-453G>C, XM_005251434.1:c.-328G>C, XM_005251435.1:c.143G>CPathogenic** 
51GALTEx2NM_000155.3:c.152G>Ap.Arg51Gln | p.R51QNM_000155.2:c.152G>A, NM_000155.3:c.152G>A, NM_001258332.1:c.-51G>A, XM_005251430.1:c.152G>A, XM_005251431.1:c.152G>A, XM_005251432.1:c.8G>A, XM_005251433.1:c.-444G>A, XM_005251434.1:c.-319G>A, XM_005251435.1:c.152G>APathogenic** 
52GALTEx2NM_000155.3:c.158G>Ap.Trp53* | p.W53XPathogenic** 
53GALTEx2NM_000155.3:c.199C>Tp.Arg67Cys | p.R67CNM_000155.2:c.199C>T, NM_000155.3:c.199C>T, NM_001142784.1:c.-5029C>T, NM_001142784.2:c.-5029C>T, NM_001258332.1:c.-4C>TPathogenic11/21/2018 
54GALTEx2NM_000155.3:c.200G>Ap.Arg67His | p.R67HNM_000155.2:c.200G>A, NM_000155.3:c.200G>A, NM_001142784.1:c.-5028G>A, NM_001142784.2:c.-5028G>A, NM_001258332.1:c.-3G>A, XM_005251430.1:c.200G>A, XM_005251431.1:c.200G>A, XM_005251432.1:c.56G>A, XM_005251433.1:c.-396G>A, XM_005251434.1:c.-271G>A, XM_005251435.1:c.200G>APathogenic** 
55GALTEx2NM_000155.3:c.203A>Cp.His68Pro | p.H68PNM_000155.2:c.203A>C, NM_000155.3:c.203A>C, NM_001142784.1:c.-5025A>C, NM_001142784.2:c.-5025A>C, NM_001258332.1:c.1A>C, XM_005251430.1:c.203A>C, XM_005251431.1:c.203A>C, XM_005251432.1:c.59A>C, XM_005251433.1:c.-393A>C, XM_005251434.1:c.-268A>C, XM_005251435.1:c.203A>CLikely pathogenic11/21/2019 
56GALTEx2NM_000155.3:c.211C>Gp.Leu71Val | p.L71VNM_000155.2:c.211C>G, NM_000155.3:c.211C>G, NM_001142784.1:c.-5017C>G, NM_001142784.2:c.-5017C>G, NM_001258332.1:c.9C>G, XM_005251430.1:c.211C>G, XM_005251431.1:c.211C>G, XM_005251432.1:c.67C>G, XM_005251433.1:c.-385C>G, XM_005251434.1:c.-260C>G, XM_005251435.1:c.211C>GVOUS10/04/2016
57GALTEx2NM_000155.3:c.221T>Cp.Leu74Pro | p.L74PNM_000155.2:c.221T>C, NM_000155.3:c.221T>C, NM_001142784.1:c.-5007T>C, NM_001142784.2:c.-5007T>C, NM_001258332.1:c.19T>C, XM_005251430.1:c.221T>C, XM_005251431.1:c.221T>C, XM_005251432.1:c.77T>C, XM_005251433.1:c.-375T>C, XM_005251434.1:c.-250T>C, XM_005251435.1:c.221T>CPathogenic03/30/2017 
58GALTEx2NM_000155.3:c.232G>Ap.Ala78Thr | p.A78TNM_000155.2:c.232G>A, NM_000155.3:c.232G>A, NM_001142784.1:c.-4996G>A, NM_001142784.2:c.-4996G>A, NM_001258332.1:c.30G>A, XM_005251430.1:c.232G>A, XM_005251431.1:c.232G>A, XM_005251432.1:c.88G>A, XM_005251433.1:c.-364G>A, XM_005251434.1:c.-239G>A, XM_005251435.1:c.232G>AVOUS09/18/2015
59GALTEx2NM_000155.3:c.241G>Ap.Ala81Thr | p.A81TNM_000155.2:c.241G>A, NM_000155.3:c.241G>A, NM_001142784.1:c.-4987G>A, NM_001142784.2:c.-4987G>A, NM_001258332.1:c.39G>A, XM_005251430.1:c.241G>A, XM_005251431.1:c.241G>A, XM_005251432.1:c.97G>A, XM_005251433.1:c.-355G>A, XM_005251434.1:c.-230G>A, XM_005251435.1:c.241G>AVOUS09/18/2015
60GALTEx2NM_000155.3:c.241G>Cp.Ala81Pro | p.A81PNM_000155.2:c.241G>C, NM_000155.3:c.241G>C, NM_001142784.1:c.-4987G>C, NM_001142784.2:c.-4987G>C, NM_001258332.1:c.39G>C, XM_005251430.1:c.241G>C, XM_005251431.1:c.241G>C, XM_005251432.1:c.97G>C, XM_005251433.1:c.-355G>C, XM_005251434.1:c.-230G>C, XM_005251435.1:c.241G>CVOUS12/07/2018
61GALTEx3NM_000155.3:c.253-21_253-26delCAGAGABenign** 
62GALTEx3NM_000155.3:c.253-2A>GNM_000155.2:c.253-2A>G, NM_000155.3:c.253-2A>G, NM_001142784.1:c.-4744A>G, NM_001142784.2:c.-4744A>G, NM_001258332.1:c.50+232A>G, XM_005251430.1:c.253-2A>G, XM_005251431.1:c.253-2A>G, XM_005251432.1:c.109-2A>G, XM_005251433.1:c.-343-2A>G, XM_005251434.1:c.-219+232A>G, XM_005251435.1:c.253-2A>GPathogenic03/27/2020 
63GALTEx3NM_000155.3:c.265T>Gp.Tyr89Asp | p.Y89DNM_000155.2:c.265T>G, NM_000155.3:c.265T>G, NM_001142784.1:c.-4730T>G, NM_001142784.2:c.-4730T>G, NM_001258332.1:c.50+246T>GPathogenic11/28/2017 
64GALTEx3NM_000155.3:c.266A>Gp.Tyr89Cys | p.Y89CNM_000155.2:c.266A>G, NM_000155.3:c.266A>G, NM_001142784.1:c.-4729A>G, NM_001142784.2:c.-4729A>G, NM_001258332.1:c.50+247A>G, XM_005251430.1:c.266A>G, XM_005251431.1:c.266A>G, XM_005251432.1:c.122A>G, XM_005251433.1:c.-330A>G, XM_005251434.1:c.-219+247A>G, XM_005251435.1:c.266A>GLikely pathogenic04/15/2019 
65GALTEx3NM_000155.3:c.277T>Ap.Phe93Ile | p.F93INM_000155.2:c.277T>A, NM_000155.3:c.277T>A, NM_001142784.1:c.-4718T>A, NM_001142784.2:c.-4718T>A, NM_001258332.1:c.50+258T>A, XM_005251430.1:c.277T>A, XM_005251431.1:c.277T>A, XM_005251432.1:c.133T>A, XM_005251433.1:c.-319T>A, XM_005251434.1:c.-219+258T>A, XM_005251435.1:c.277T>AVOUS09/18/2015
66GALTEx3NM_000155.3:c.289A>Gp.Asn97Asp | p.N97DNM_000155.2:c.289A>G, NM_000155.3:c.289A>G, NM_001142784.1:c.-4706A>G, NM_001142784.2:c.-4706A>G, NM_001258332.1:c.50+270A>G, XM_005251430.1:c.289A>G, XM_005251431.1:c.289A>G, XM_005251432.1:c.145A>G, XM_005251433.1:c.-307A>G, XM_005251434.1:c.-219+270A>G, XM_005251435.1:c.289A>GLikely pathogenic07/20/2017 
67GALTEx3NM_000155.3:c.289_291delAACp.Asn97del | p.N97delNM_000155.2:c.289_291delAAC, NM_000155.3:c.289_291delAAC, NM_001142784.1:c.-4706_-4704delAAC, NM_001142784.2:c.-4706_-4704delAAC, NM_001258332.1:c.50+270_50+272delAAC, XM_005251430.1:c.289_291delAAC, XM_005251431.1:c.289_291delAAC, XM_005251432.1:c.145_147delAAC, XM_005251433.1:c.-307_-305delAAC, XM_005251434.1:c.-219+270_-219+272delAAC, XM_005251435.1:c.289_291delAACLikely pathogenic01/09/2013 
68GALTEx3NM_000155.3:c.290A>Gp.Asn97Ser | p.N97SNM_000155.2:c.290A>G, NM_000155.3:c.290A>G, NM_001142784.1:c.-4705A>G, NM_001142784.2:c.-4705A>G, NM_001258332.1:c.50+271A>G, V85-N97fsdel38bp, XM_005251430.1:c.290A>G, XM_005251431.1:c.290A>G, XM_005251432.1:c.146A>G, XM_005251433.1:c.-306A>G, XM_005251434.1:c.-219+271A>G, XM_005251435.1:c.290A>GPathogenic01/17/2013 
69GALTEx3NM_000155.3:c.291C>Tp.Asn97= | p.N97=NM_000155.2:c.291C>T, NM_000155.3:c.291C>T, NM_001142784.1:c.-4704C>T, NM_001142784.2:c.-4704C>T, NM_001258332.1:c.50+272C>T, XM_005251430.1:c.291C>T, XM_005251431.1:c.291C>T, XM_005251432.1:c.147C>T, XM_005251433.1:c.-305C>T, XM_005251434.1:c.-219+272C>T, XM_005251435.1:c.291C>TVOUS11/11/2019
70GALTEx3NM_000155.3:c.291C>Gp.Asn97Lys | p.N97KNM_000155.2:c.291C>G, NM_000155.3:c.291C>G, NM_001142784.1:c.-4704C>G, NM_001142784.2:c.-4704C>G, NM_001258332.1:c.50+272C>G, XM_005251430.1:c.291C>G, XM_005251431.1:c.291C>G, XM_005251432.1:c.147C>G, XM_005251433.1:c.-305C>G, XM_005251434.1:c.-219+272C>G, XM_005251435.1:c.291C>GLikely pathogenic07/20/2017 
71GALTEx3NM_000155.3:c.292G>Ap.Asp98Asn | p.D98NNM_000155.2:c.292G>A, NM_000155.3:c.292G>A, NM_001142784.1:c.-4703G>A, NM_001142784.2:c.-4703G>A, NM_001258332.1:c.50+273G>A, XM_005251430.1:c.292G>A, XM_005251431.1:c.292G>A, XM_005251432.1:c.148G>A, XM_005251433.1:c.-304G>A, XM_005251434.1:c.-219+273G>A, XM_005251435.1:c.292G>APathogenic09/30/2020 
72GALTEx3NM_000155.3:c.292G>Cp.Asp98His | p.D98HNM_000155.2:c.292G>C, NM_000155.3:c.292G>C, NM_001142784.1:c.-4703G>C, NM_001142784.2:c.-4703G>C, NM_001258332.1:c.50+273G>C, XM_005251430.1:c.292G>C, XM_005251431.1:c.292G>C, XM_005251432.1:c.148G>C, XM_005251433.1:c.-304G>C, XM_005251434.1:c.-219+273G>C, XM_005251435.1:c.292G>CPathogenic07/03/2017 
73GALTEx3NM_000155.3:c.307C>Tp.Gln103* | p.Q103XNM_000155.2:c.307C>T, NM_000155.3:c.307C>T, NM_001142784.1:c.-4688C>T, NM_001142784.2:c.-4688C>T, NM_001258332.1:c.51-286C>T, XM_005251430.1:c.307C>T, XM_005251431.1:c.307C>T, XM_005251432.1:c.163C>T, XM_005251433.1:c.-289C>T, XM_005251434.1:c.-218-286C>T, XM_005251435.1:c.307C>TPathogenic11/15/2016 
74GALTEx3NM_000155.3:c.328+33G>CNM_000155.2:c.328+33G>C, NM_000155.3:c.328+33G>C, NM_001142784.1:c.-4634G>C, NM_001142784.2:c.-4634G>C, NM_001258332.1:c.51-232G>C, XM_005251430.1:c.328+33G>C, XM_005251431.1:c.328+33G>C, XM_005251432.1:c.184+33G>C, XM_005251433.1:c.-268+33G>C, XM_005251434.1:c.-218-232G>C, XM_005251435.1:c.328+33G>CVOUS09/18/2015
75GALTEx4NM_000155.3:c.329-27G>CNM_000155.2:c.329-27G>C, NM_000155.3:c.329-27G>C, NM_001142784.1:c.-4604G>C, NM_001142784.2:c.-4604G>C, NM_001258332.1:c.51-202G>C, XM_005251430.1:c.329-27G>C, XM_005251431.1:c.329-27G>C, XM_005251432.1:c.185-27G>C, XM_005251433.1:c.-267-27G>C, XM_005251434.1:c.-218-202G>C, XM_005251435.1:c.329-27G>CBenign** 
76GALTEx4NM_000155.3:c.329-24G>ANM_000155.2:c.329-24G>A, NM_000155.3:c.329-24G>A, NM_001142784.1:c.-4601G>A, NM_001142784.2:c.-4601G>A, NM_001258332.1:c.51-199G>A, XM_005251430.1:c.329-24G>A, XM_005251431.1:c.329-24G>A, XM_005251432.1:c.185-24G>A, XM_005251433.1:c.-267-24G>A, XM_005251434.1:c.-218-199G>A, XM_005251435.1:c.329-24G>ALikely benign09/18/2015 
77GALTEx4NM_000155.3:c.329-19T>CNM_000155.2:c.329-19T>C, NM_000155.3:c.329-19T>C, NM_001142784.1:c.-4596T>C, NM_001142784.2:c.-4596T>C, NM_001258332.1:c.51-194T>C, XM_005251430.1:c.329-19T>C, XM_005251431.1:c.329-19T>C, XM_005251432.1:c.185-19T>C, XM_005251433.1:c.-267-19T>C, XM_005251434.1:c.-218-194T>C, XM_005251435.1:c.329-19T>CVOUS09/18/2015
78GALTEx4NM_000155.3:c.329-2A>CNM_000155.2:c.329-2A>C, NM_000155.3:c.329-2A>C, NM_001142784.1:c.-4579A>C, NM_001142784.2:c.-4579A>C, NM_001258332.1:c.51-177A>CPathogenic** 
79GALTEx4NM_000155.3:c.341A>Cp.His114Pro | p.H114PNM_000155.2:c.341A>C, NM_000155.3:c.341A>C, NM_001142784.1:c.-4565A>C, NM_001142784.2:c.-4565A>C, NM_001258332.1:c.51-163A>C, XM_005251430.1:c.341A>C, XM_005251431.1:c.341A>C, XM_005251432.1:c.197A>C, XM_005251433.1:c.-255A>C, XM_005251434.1:c.-218-163A>C, XM_005251435.1:c.341A>CVOUS09/24/2015
80GALTEx4NM_000155.3:c.367C>Tp.Arg123* | p.R123XNM_000155.2:c.367C>T, NM_000155.3:c.367C>T, NM_001142784.1:c.-4539C>T, NM_001142784.2:c.-4539C>T, NM_001258332.1:c.51-137C>T, XM_005251430.1:c.367C>T, XM_005251431.1:c.367C>T, XM_005251432.1:c.223C>T, XM_005251433.1:c.-229C>T, XM_005251434.1:c.-218-137C>T, XM_005251435.1:c.367C>TPathogenic07/13/2018 
81GALTEx4NM_000155.3:c.371G>Tp.Gly124Val | p.G124VNM_000155.2:c.371G>T, NM_000155.3:c.371G>T, NM_001142784.1:c.-4535G>T, NM_001142784.2:c.-4535G>T, NM_001258332.1:c.51-133G>T, XM_005251430.1:c.371G>T, XM_005251431.1:c.371G>T, XM_005251432.1:c.227G>T, XM_005251433.1:c.-225G>T, XM_005251434.1:c.-218-133G>T, XM_005251435.1:c.371G>TVOUS04/08/2020
82GALTEx4NM_000155.3:c.377+7A>CNM_000155.2:c.377+7A>C, NM_000155.3:c.377+7A>C, NM_001142784.1:c.-4522A>C, NM_001142784.2:c.-4522A>C, NM_001258332.1:c.51-120A>C, XM_005251430.1:c.377+7A>C, XM_005251431.1:c.377+7A>C, XM_005251432.1:c.233+7A>C, XM_005251433.1:c.-219+7A>C, XM_005251434.1:c.-218-120A>C, XM_005251435.1:c.377+7A>CVOUS09/24/2015
83GALTEx4NM_000155.3:c.377+17C>TNM_000155.2:c.377+17C>T, NM_000155.3:c.377+17C>T, NM_001142784.1:c.-4512C>T, NM_001142784.2:c.-4512C>T, NM_001258332.1:c.51-110C>T, XM_005251430.1:c.377+17C>T, XM_005251431.1:c.377+17C>T, XM_005251432.1:c.233+17C>T, XM_005251433.1:c.-219+17C>T, XM_005251434.1:c.-218-110C>T, XM_005251435.1:c.377+17C>TVOUS02/11/2015
84GALTEx5NM_000155.3:c.378-27G>CNM_000155.2:c.378-27G>C, NM_000155.3:c.378-27G>C, NM_001142784.1:c.-4429G>C, NM_001142784.2:c.-4429G>C, NM_001258332.1:c.51-27G>C, XM_005251430.1:c.378-27G>C, XM_005251431.1:c.378-27G>C, XM_005251432.1:c.234-27G>C, XM_005251433.1:c.-218-27G>C, XM_005251434.1:c.-218-27G>C, XM_005251435.1:c.378-27G>CBenign** 
85GALTEx5NM_000155.3:c.379A>Gp.Lys127Glu | p.K127ENM_000155.2:c.379A>G, NM_000155.3:c.379A>G, NM_001142784.1:c.-4401A>G, NM_001142784.2:c.-4401A>G, NM_001258332.1:c.52A>G, XM_005251430.1:c.379A>G, XM_005251431.1:c.379A>G, XM_005251432.1:c.235A>G, XM_005251433.1:c.-217A>G, XM_005251434.1:c.-217A>G, XM_005251435.1:c.379A>GVOUS09/08/2015
86GALTEx5NM_000155.3:c.386T>Cp.Met129Thr | p.M129TNM_000155.2:c.386T>C, NM_000155.3:c.386T>C, NM_001142784.1:c.-4394T>C, NM_001142784.2:c.-4394T>C, NM_001258332.1:c.59T>C, XM_005251430.1:c.386T>C, XM_005251431.1:c.386T>C, XM_005251432.1:c.242T>C, XM_005251433.1:c.-210T>C, XM_005251434.1:c.-210T>C, XM_005251435.1:c.386T>CPathogenic09/12/2014 
87GALTEx5NM_000155.3:c.387G>Ap.Met129Ile | p.M129INM_000155.2:c.387G>A, NM_000155.3:c.387G>A, NM_001142784.1:c.-4393G>A, NM_001142784.2:c.-4393G>A, NM_001258332.1:c.60G>A, XM_005251430.1:c.387G>A, XM_005251431.1:c.387G>A, XM_005251432.1:c.243G>A, XM_005251433.1:c.-209G>A, XM_005251434.1:c.-209G>A, XM_005251435.1:c.387G>AVOUS09/25/2015
88GALTEx5NM_000155.3:c.389G>Ap.Cys130Tyr | p.C130YNM_000155.2:c.389G>A, NM_000155.3:c.389G>A, NM_001142784.1:c.-4391G>A, NM_001142784.2:c.-4391G>A, NM_001258332.1:c.62G>A, XM_005251430.1:c.389G>A, XM_005251431.1:c.389G>A, XM_005251432.1:c.245G>A, XM_005251433.1:c.-207G>A, XM_005251434.1:c.-207G>A, XM_005251435.1:c.389G>AVOUS09/25/2015
89GALTEx5NM_000155.3:c.396C>Ap.His132Gln | p.H132QNM_000155.2:c.396C>A, NM_000155.3:c.396C>A, NM_001142784.1:c.-4384C>A, NM_001142784.2:c.-4384C>A, NM_001258332.1:c.69C>A, XM_005251430.1:c.396C>A, XM_005251431.1:c.396C>A, XM_005251432.1:c.252C>A, XM_005251433.1:c.-200C>A, XM_005251434.1:c.-200C>A, XM_005251435.1:c.396C>ALikely pathogenic09/25/2015 
90GALTEx5NM_000155.3:c.400delTPathogenic** 
91GALTEx5NM_000155.3:c.404C>Tp.Ser135Leu | p.S135LNM_000155.2:c.404C>T, NM_000155.3:c.404C>T, NM_001142784.1:c.-4376C>T, NM_001142784.2:c.-4376C>T, NM_001258332.1:c.77C>T, XM_005251430.1:c.404C>T, XM_005251431.1:c.404C>T, XM_005251432.1:c.260C>T, XM_005251433.1:c.-192C>T, XM_005251434.1:c.-192C>T, XM_005251435.1:c.404C>TPathogenic01/17/2020 
92GALTEx5NM_000155.3:c.405G>Ap.Ser135= | p.S135=NM_000155.2:c.405G>A, NM_000155.3:c.405G>A, NM_001142784.1:c.-4375G>A, NM_001142784.2:c.-4375G>A, NM_001258332.1:c.78G>A, XM_005251430.1:c.405G>A, XM_005251431.1:c.405G>A, XM_005251432.1:c.261G>A, XM_005251433.1:c.-191G>A, XM_005251434.1:c.-191G>A, XM_005251435.1:c.405G>AVOUS09/25/2015
93GALTEx5NM_000155.3:c.406G>Tp.Asp136Tyr | p.D136YNM_000155.2:c.406G>T, NM_000155.3:c.406G>T, NM_001142784.1:c.-4374G>T, NM_001142784.2:c.-4374G>T, NM_001258332.1:c.79G>T, XM_005251430.1:c.406G>T, XM_005251431.1:c.406G>T, XM_005251432.1:c.262G>T, XM_005251433.1:c.-190G>T, XM_005251434.1:c.-190G>T, XM_005251435.1:c.406G>TVOUS04/08/2015
94GALTEx5NM_000155.3:c.413C>Tp.Thr138Met | p.T138MNM_000155.2:c.413C>T, NM_000155.3:c.413C>T, NM_001142784.1:c.-4367C>T, NM_001142784.2:c.-4367C>T, NM_001258332.1:c.86C>T, XM_005251430.1:c.413C>T, XM_005251431.1:c.413C>T, XM_005251432.1:c.269C>T, XM_005251433.1:c.-183C>T, XM_005251434.1:c.-183C>T, XM_005251435.1:c.413C>TPathogenic** 
95GALTEx5NM_000155.3:c.414G>Tp.Thr138= | p.T138=NM_000155.2:c.414G>T, NM_000155.3:c.414G>T, NM_001142784.1:c.-4366G>T, NM_001142784.2:c.-4366G>T, NM_001258332.1:c.87G>T, XM_005251430.1:c.414G>T, XM_005251431.1:c.414G>T, XM_005251432.1:c.270G>T, XM_005251433.1:c.-182G>T, XM_005251434.1:c.-182G>T, XM_005251435.1:c.414G>TBenign09/25/2015 
96GALTEx5NM_000155.3:c.416T>Gp.Leu139Arg | p.L139RPathogenic** 
97GALTEx5NM_000155.3:c.425T>Ap.Met142Lys | p.M142KNM_000155.2:c.425T>A, NM_000155.3:c.425T>A, NM_001142784.1:c.-4355T>A, NM_001142784.2:c.-4355T>A, NM_001258332.1:c.98T>APathogenic03/27/2019 
98GALTEx5NM_000155.3:c.428C>Tp.Ser143Leu | p.S143LPathogenic** 
99GALTEx5NM_000155.3:c.442G>Ap.Arg148Pro | p.R148PPathogenic** 
100GALTEx5NM_000155.3:c.442C>Tp.Arg148Trp | p.R148WNM_000155.2:c.442C>T, NM_000155.3:c.442C>T, NM_001142784.1:c.-4338C>T, NM_001142784.2:c.-4338C>T, NM_001258332.1:c.115C>T, XM_005251430.1:c.442C>T, XM_005251431.1:c.442C>T, XM_005251432.1:c.298C>T, XM_005251433.1:c.-154C>T, XM_005251434.1:c.-154C>T, XM_005251435.1:c.442C>TPathogenic05/16/2018 
101GALTEx5NM_000155.3:c.443G>Cp.Arg148Pro | p.R148PNM_000155.2:c.443G>C, NM_000155.3:c.443G>C, NM_001142784.1:c.-4337G>C, NM_001142784.2:c.-4337G>C, NM_001258332.1:c.116G>C, XM_005251430.1:c.443G>C, XM_005251431.1:c.443G>C, XM_005251432.1:c.299G>C, XM_005251433.1:c.-153G>C, XM_005251434.1:c.-153G>C, XM_005251435.1:c.443G>CPathogenic** 
102GALTEx5NM_000155.3:c.443G>Ap.Arg148Gln | p.R148QNM_000155.2:c.443G>A, NM_000155.3:c.443G>A, NM_001142784.1:c.-4337G>A, NM_001142784.2:c.-4337G>A, NM_001258332.1:c.116G>A, XM_005251430.1:c.443G>A, XM_005251431.1:c.443G>A, XM_005251432.1:c.299G>A, XM_005251433.1:c.-153G>A, XM_005251434.1:c.-153G>A, XM_005251435.1:c.443G>APathogenic05/27/2014 
103GALTEx5NM_000155.3:c.445dupGNM_000155.3:c.445_446insG, NM_000155.3:c.445dupGPathogenic02/13/2014 
104GALTEx5NM_000155.3:c.452_454delTTGNM_000155.2:c.452_454delTTG, NM_000155.3:c.452_454delTTG, NM_001142784.1:c.-4328_-4326delTTG, NM_001142784.2:c.-4328_-4326delTTG, NM_001258332.1:c.125_127delTTG, XM_005251430.1:c.452_454delTTG, XM_005251431.1:c.452_454delTTG, XM_005251432.1:c.308_310delTTG, XM_005251433.1:c.-144_-142delTTG, XM_005251434.1:c.-144_-142delTTG, XM_005251435.1:c.452_454delTTGVOUS05/09/2016
105GALTEx5NM_000155.3:c.502_504delGTGNM_000155.2:c.502_504delGTG, NM_000155.3:c.502_504delGTG, NM_001142784.1:c.-4278_-4276delGTG, NM_001142784.2:c.-4278_-4276delGTG, NM_001258332.1:c.175_177delGTG, XM_005251430.1:c.502_504delGTG, XM_005251431.1:c.502_504delGTG, XM_005251432.1:c.358_360delGTG, XM_005251433.1:c.-94_-92delGTG, XM_005251434.1:c.-94_-92delGTG, XM_005251435.1:c.502_504delGTGPathogenic** 
106GALTEx5NM_000155.3:c.507+5G>ANM_000155.2:c.507+5G>A, NM_000155.3:c.507+5G>A, NM_001142784.1:c.-4268G>A, NM_001142784.2:c.-4268G>A, NM_001258332.1:c.180+5G>A, XM_005251430.1:c.507+5G>A, XM_005251431.1:c.507+5G>A, XM_005251432.1:c.363+5G>A, XM_005251433.1:c.-89+5G>A, XM_005251434.1:c.-89+5G>A, XM_005251435.1:c.507+5G>AVOUS05/18/2016
107GALTEx6NM_000155.3:c.508-24G>ABenign** 
108GALTEx6NM_000155.3:c.508-17G>ANM_000155.2:c.508-17G>A, NM_000155.3:c.508-17G>A, NM_001142784.1:c.-4136G>A, NM_001142784.2:c.-4136G>A, NM_001258332.1:c.181-17G>ABenign08/12/2019 
109GALTEx6NM_000155.3:c.508-12C>GNM_000155.2:c.508-12C>G, NM_000155.3:c.508-12C>G, NM_001142784.1:c.-4131C>G, NM_001142784.2:c.-4131C>G, NM_001258332.1:c.181-12C>GVOUS09/25/2015
110GALTEx6NM_000155.3:c.508-1G>CNM_000155.2:c.508-1G>C, NM_000155.3:c.508-1G>C, NM_001142784.1:c.-4120G>C, NM_001142784.2:c.-4120G>C, NM_001258332.1:c.181-1G>C, XM_005251430.1:c.508-1G>C, XM_005251431.1:c.508-1G>C, XM_005251432.1:c.364-1G>C, XM_005251433.1:c.-22G>C, XM_005251434.1:c.-22G>C, XM_005251435.1:c.574G>CPathogenic11/01/2012 
111GALTEx6NM_000155.3:c.510C>Ap.= | p.=NM_000155.2:c.510C>A, NM_000155.3:c.510C>A, NM_001142784.1:c.-4117C>A, NM_001142784.2:c.-4117C>A, NM_001258332.1:c.183C>A, XM_005251430.1:c.510C>A, XM_005251431.1:c.510C>A, XM_005251432.1:c.366C>A, XM_005251433.1:c.-19C>A, XM_005251434.1:c.-19C>A, XM_005251435.1:c.577C>ABenign04/12/2017 
112GALTEx6NM_000155.3:c.512T>Cp.Phe171Ser | p.F171SNM_000155.2:c.512T>C, NM_000155.3:c.512T>C, NM_001142784.1:c.-4115T>C, NM_001142784.2:c.-4115T>C, NM_001258332.1:c.185T>C, XM_005251430.1:c.512T>C, XM_005251431.1:c.512T>C, XM_005251432.1:c.368T>C, XM_005251433.1:c.-17T>C, XM_005251434.1:c.-17T>C, XM_005251435.1:c.579T>CPathogenic07/02/2019 
113GALTEx6NM_000155.3:c.513delTNM_000155.2:c.513delT, NM_000155.3:c.513delT, NM_001142784.1:c.-4114delT, NM_001142784.2:c.-4114delT, NM_001258332.1:c.186delT, XM_005251430.1:c.513delT, XM_005251431.1:c.513delT, XM_005251432.1:c.369delT, XM_005251433.1:c.-16delT, XM_005251434.1:c.-16delT, XM_005251435.1:c.580delTPathogenic08/16/2016 
114GALTEx6NM_000155.3:c.520A>Cp.Lys174Gln | p.K174QNM_000155.2:c.520A>C, NM_000155.3:c.520A>C, NM_001142784.1:c.-4107A>C, NM_001142784.2:c.-4107A>C, NM_001258332.1:c.193A>C, XM_005251430.1:c.520A>C, XM_005251431.1:c.520A>C, XM_005251432.1:c.376A>C, XM_005251433.1:c.-9A>C, XM_005251434.1:c.-9A>C, XM_005251435.1:c.*5A>CVOUS10/05/2017
115GALTEx6NM_000155.3:c.539G>Ap.Cys180Tyr | p.C180YNM_000155.2:c.539G>A, NM_000155.3:c.539G>A, NM_001142784.1:c.-4088G>A, NM_001142784.2:c.-4088G>A, NM_001258332.1:c.212G>A, XM_005251430.1:c.539G>A, XM_005251431.1:c.539G>A, XM_005251432.1:c.395G>A, XM_005251433.1:c.11G>A, XM_005251434.1:c.11G>A, XM_005251435.1:c.*24G>AVOUS09/25/2015
116GALTEx6NM_000155.3:c.552C>Ap.His184Gln | p.H184QPathogenic** 
117GALTEx6NM_000155.3:c.556C>Tp.His186Tyr | p.H186YNM_000155.2:c.556C>T, NM_000155.3:c.556C>T, NM_001142784.1:c.-4071C>T, NM_001142784.2:c.-4071C>T, NM_001258332.1:c.229C>T, XM_005251430.1:c.556C>T, XM_005251431.1:c.556C>T, XM_005251432.1:c.412C>T, XM_005251433.1:c.28C>T, XM_005251434.1:c.28C>T, XM_005251435.1:c.*41C>TLikely pathogenic03/12/2020 
118GALTEx6NM_000155.3:c.558C>Ap.His186Gln | p.H186QNM_000155.2:c.558C>A, NM_000155.3:c.558C>A, NM_001142784.1:c.-4069C>A, NM_001142784.2:c.-4069C>A, NM_001258332.1:c.231C>A, XM_005251430.1:c.558C>A, XM_005251431.1:c.558C>A, XM_005251432.1:c.414C>A, XM_005251433.1:c.30C>A, XM_005251434.1:c.30C>A, XM_005251435.1:c.*43C>ALikely pathogenic07/05/2017 
119GALTEx6NM_000155.3:c.562C>Ap.Gln188Lys | p.Q188KNM_000155.2:c.562C>A, NM_000155.3:c.562C>A, NM_001142784.1:c.-4065C>A, NM_001142784.2:c.-4065C>A, NM_001258332.1:c.235C>A, XM_005251430.1:c.562C>A, XM_005251431.1:c.562C>A, XM_005251432.1:c.418C>A, XM_005251433.1:c.34C>A, XM_005251434.1:c.34C>A, XM_005251435.1:c.*47C>AVOUS09/25/2015
120GALTEx6NM_000155.3:c.562C>Tp.Gln188* | p.Q188XNM_000155.2:c.562C>T, NM_000155.3:c.562C>T, NM_001142784.1:c.-4065C>T, NM_001142784.2:c.-4065C>T, NM_001258332.1:c.235C>T, XM_005251430.1:c.562C>T, XM_005251431.1:c.562C>T, XM_005251432.1:c.418C>T, XM_005251433.1:c.34C>T, XM_005251434.1:c.34C>T, XM_005251435.1:c.*47C>TPathogenic11/09/2017 
121GALTEx6NM_000155.3:c.563A>Gp.Gln188Arg | p.Q188RNM_000155.2:c.563A>G, NM_000155.3:c.563A>G, NM_001142784.1:c.-4064A>G, NM_001142784.2:c.-4064A>G, NM_001258332.1:c.236A>G, XM_005251430.1:c.563A>G, XM_005251431.1:c.563A>G, XM_005251432.1:c.419A>G, XM_005251433.1:c.35A>G, XM_005251434.1:c.35A>G, XM_005251435.1:c.*48A>GPathogenic09/30/2020 
122GALTEx6NM_000155.3:c.564+1G>ANM_000155.2:c.564+1G>A, NM_000155.3:c.564+1G>A, NM_001142784.1:c.-4062G>A, NM_001142784.2:c.-4062G>A, NM_001258332.1:c.237+1G>A, XM_005251430.1:c.564+1G>A, XM_005251431.1:c.564+1G>A, XM_005251432.1:c.420+1G>A, XM_005251433.1:c.36+1G>A, XM_005251434.1:c.36+1G>A, XM_005251435.1:c.*49+1G>APathogenic10/18/2017 
123GALTEx6NM_000155.3:c.564+7G>ANM_000155.2:c.564+7G>A, NM_000155.3:c.564+7G>A, NM_001142784.1:c.-4056G>A, NM_001142784.2:c.-4056G>A, NM_001258332.1:c.237+7G>A, XM_005251430.1:c.564+7G>A, XM_005251431.1:c.564+7G>A, XM_005251432.1:c.420+7G>A, XM_005251433.1:c.36+7G>A, XM_005251434.1:c.36+7G>A, XM_005251435.1:c.*49+7G>AVOUS11/16/2015
124GALTEx6NM_000155.3:c.564+15G>ANM_000155.2:c.564+15G>A, NM_000155.3:c.564+15G>A, NM_001142784.1:c.-4048G>A, NM_001142784.2:c.-4048G>A, NM_001258332.1:c.237+15G>A, XM_005251430.1:c.564+15G>A, XM_005251431.1:c.564+15G>A, XM_005251432.1:c.420+15G>A, XM_005251433.1:c.36+15G>A, XM_005251434.1:c.36+15G>A, XM_005251435.1:c.*49+15G>ALikely benign09/25/2015 
125GALTEx7NM_000155.3:c.565_578delGTATGGGCCAGCAGNM_000155.2:c.565_578delGTATGGGCCAGCAG, NM_000155.3:c.565_578delGTATGGGCCAGCAG, NM_001142784.1:c.-3900_-3887delGTATGGGCCAGCAG, NM_001142784.2:c.-3900_-3887delGTATGGGCCAGCAG, NM_001258332.1:c.238_251delGTATGGGCCAGCAGPathogenic10/11/2013 
126GALTEx7NM_000155.3:c.568T>Cp.Trp190Arg | p.W190RNM_000155.2:c.568T>C, NM_000155.3:c.568T>C, NM_001142784.1:c.-3897T>C, NM_001142784.2:c.-3897T>C, NM_001258332.1:c.241T>C, XM_005251430.1:c.568T>C, XM_005251431.1:c.568T>C, XM_005251432.1:c.424T>C, XM_005251433.1:c.40T>C, XM_005251434.1:c.40T>C, XM_005251435.1:c.*53T>CLikely pathogenic03/15/2013 
127GALTEx7NM_000155.3:c.572C>Tp.Ala191Val | p.A191VNM_000155.2:c.572C>T, NM_000155.3:c.572C>T, NM_001142784.1:c.-3893C>T, NM_001142784.2:c.-3893C>T, NM_001258332.1:c.245C>T, XM_005251430.1:c.572C>T, XM_005251431.1:c.572C>T, XM_005251432.1:c.428C>T, XM_005251433.1:c.44C>T, XM_005251434.1:c.44C>T, XM_005251435.1:c.*57C>TLikely pathogenic05/27/2015 
128GALTEx7NM_000155.3:c.584T>Cp.Leu195Pro | p.L195PNM_000155.2:c.584T>C, NM_000155.3:c.584T>C, NM_001142784.1:c.-3881T>C, NM_001142784.2:c.-3881T>C, NM_001258332.1:c.257T>C, XM_005251430.1:c.584T>C, XM_005251431.1:c.584T>C, XM_005251432.1:c.440T>C, XM_005251433.1:c.56T>C, XM_005251434.1:c.56T>C, XM_005251435.1:c.*69T>CPathogenic12/15/2020 
129GALTEx7NM_000155.3:c.587C>Tp.Pro196Leu | p.P196LNM_000155.2:c.587C>T, NM_000155.3:c.587C>T, NM_001142784.1:c.-3878C>T, NM_001142784.2:c.-3878C>T, NM_001258332.1:c.260C>T, XM_005251430.1:c.587C>T, XM_005251431.1:c.587C>T, XM_005251432.1:c.443C>T, XM_005251433.1:c.59C>T, XM_005251434.1:c.59C>T, XM_005251435.1:c.*72C>TVOUS09/25/2015
130GALTEx7NM_000155.3:c.598delCNM_000155.2:c.598delC, NM_000155.3:c.598delC, NM_001142784.1:c.-3867delC, NM_001142784.2:c.-3867delC, NM_001258332.1:c.271delCPathogenic06/27/2014 
131GALTEx7NM_000155.3:c.601C>Tp.Arg201Cys | p.R201CNM_000155.2:c.601C>T, NM_000155.3:c.601C>T, NM_001142784.1:c.-3864C>T, NM_001142784.2:c.-3864C>T, NM_001258332.1:c.274C>T, XM_005251430.1:c.601C>T, XM_005251431.1:c.601C>T, XM_005251432.1:c.457C>T, XM_005251433.1:c.73C>T, XM_005251434.1:c.73C>T, XM_005251435.1:c.*86C>TPathogenic02/09/2017 
132GALTEx7NM_000155.3:c.602G>Ap.Arg201His | p.R201HNM_000155.2:c.602G>A, NM_000155.3:c.602G>A, NM_001142784.1:c.-3863G>A, NM_001142784.2:c.-3863G>A, NM_001258332.1:c.275G>A, XM_005251430.1:c.602G>A, XM_005251431.1:c.602G>A, XM_005251432.1:c.458G>A, XM_005251433.1:c.74G>A, XM_005251434.1:c.74G>A, XM_005251435.1:c.*87G>APathogenic11/21/2018 
133GALTEx7NM_000155.3:c.605A>Cp.Glu202Ala | p.E202ANM_000155.2:c.605A>C, NM_000155.3:c.605A>C, NM_001142784.1:c.-3860A>C, NM_001142784.2:c.-3860A>C, NM_001258332.1:c.278A>C, XM_005251430.1:c.605A>C, XM_005251431.1:c.605A>C, XM_005251432.1:c.461A>C, XM_005251433.1:c.77A>C, XM_005251434.1:c.77A>C, XM_005251435.1:c.*90A>CVOUS09/25/2015
134GALTEx7NM_000155.3:c.607G>Ap.Glu203Lys | p.E203KNM_000155.2:c.607G>A, NM_000155.3:c.607G>A, NM_001142784.1:c.-3858G>A, NM_001142784.2:c.-3858G>A, NM_001258332.1:c.280G>A, XM_005251430.1:c.607G>A, XM_005251431.1:c.607G>A, XM_005251432.1:c.463G>A, XM_005251433.1:c.79G>A, XM_005251434.1:c.79G>A, XM_005251435.1:c.*92G>APathogenic01/21/2021 
135GALTEx7NM_000155.3:c.610C>Tp.Arg204* | p.R204XNM_000155.2:c.610C>T, NM_000155.3:c.610C>T, NM_001142784.1:c.-3855C>T, NM_001142784.2:c.-3855C>T, NM_001258332.1:c.283C>TPathogenic04/23/2014 
136GALTEx7NM_000155.3:c.611G>Ap.Arg204Gln | p.R204QNM_000155.2:c.611G>A, NM_000155.3:c.611G>A, NM_001142784.1:c.-3854G>A, NM_001142784.2:c.-3854G>A, NM_001258332.1:c.284G>A, XM_005251430.1:c.611G>A, XM_005251431.1:c.611G>A, XM_005251432.1:c.467G>A, XM_005251433.1:c.83G>A, XM_005251434.1:c.83G>A, XM_005251435.1:c.*96G>AVOUS09/25/2015
137GALTEx7NM_000155.3:c.617A>Gp.Gln206Arg | p.Q206RNM_000155.2:c.617A>G, NM_000155.3:c.617A>G, NM_001142784.1:c.-3848A>G, NM_001142784.2:c.-3848A>G, NM_001258332.1:c.290A>G, XM_005251430.1:c.617A>G, XM_005251431.1:c.617A>G, XM_005251432.1:c.473A>G, XM_005251433.1:c.89A>G, XM_005251434.1:c.89A>G, XM_005251435.1:c.*102A>GPathogenic** 
138GALTEx7NM_000155.3:c.619C>Tp.Gln207* | p.Q207XNM_000155.2:c.619C>T, NM_000155.3:c.619C>T, NM_001142784.1:c.-3846C>T, NM_001142784.2:c.-3846C>T, NM_001258332.1:c.292C>T, XM_005251430.1:c.619C>T, XM_005251431.1:c.619C>T, XM_005251432.1:c.475C>T, XM_005251433.1:c.91C>T, XM_005251434.1:c.91C>T, XM_005251435.1:c.*104C>TPathogenic10/04/2016 
139GALTEx7NM_000155.3:c.626A>Gp.Tyr209Cys | p.Y209CNM_000155.2:c.626A>G, NM_000155.3:c.626A>G, NM_001142784.1:c.-3839A>G, NM_001142784.2:c.-3839A>G, NM_001258332.1:c.299A>GPathogenic05/06/2016 
140GALTEx7NM_000155.3:c.634C>Tp.Gln212* | p.Q212XPathogenic11/19/2012 
141GALTEx7NM_000155.3:c.652C>Tp.Leu218= | p.L218=NM_000155.2:c.652C>T, NM_000155.3:c.652C>T, NM_001142784.1:c.-3813C>T, NM_001142784.2:c.-3813C>T, NM_001258332.1:c.325C>T, XM_005251430.1:c.652C>T, XM_005251431.1:c.652C>T, XM_005251432.1:c.508C>T, XM_005251433.1:c.124C>T, XM_005251434.1:c.124C>T, XM_005251435.1:c.*137C>TOther Reportable12/03/2020 
142GALTEx7NM_000155.3:c.652C>Gp.Leu218Val | p.L218VNM_000155.2:c.652C>G, NM_000155.3:c.652C>G, NM_001142784.1:c.-3813C>G, NM_001142784.2:c.-3813C>G, NM_001258332.1:c.325C>G, XM_005251430.1:c.652C>G, XM_005251431.1:c.652C>G, XM_005251432.1:c.508C>G, XM_005251433.1:c.124C>G, XM_005251434.1:c.124C>G, XM_005251435.1:c.*137C>GVOUS09/25/2015
143GALTEx7NM_000155.3:c.667C>Tp.Arg223Cys | p.R223CNM_000155.2:c.667C>T, NM_000155.3:c.667C>T, NM_001142784.1:c.-3798C>T, NM_001142784.2:c.-3798C>T, NM_001258332.1:c.340C>T, XM_005251430.1:c.667C>T, XM_005251431.1:c.667C>T, XM_005251432.1:c.523C>T, XM_005251433.1:c.139C>T, XM_005251434.1:c.139C>T, XM_005251435.1:c.*152C>TVOUS06/19/2018
144GALTEx7NM_000155.3:c.668G>Tp.Arg223Leu | p.R223LNM_000155.2:c.668G>T, NM_000155.3:c.668G>T, NM_001142784.1:c.-3797G>T, NM_001142784.2:c.-3797G>T, NM_001258332.1:c.341G>T, XM_005251430.1:c.668G>T, XM_005251431.1:c.668G>T, XM_005251432.1:c.524G>T, XM_005251433.1:c.140G>T, XM_005251434.1:c.140G>T, XM_005251435.1:c.*153G>TVOUS01/28/2020
145GALTEx7NM_000155.3:c.683G>Cp.Arg228Thr | p.R228TNM_000155.2:c.683G>C, NM_000155.3:c.683G>C, NM_001142784.1:c.-3782G>C, NM_001142784.2:c.-3782G>C, NM_001258332.1:c.356G>C, XM_005251430.1:c.683G>C, XM_005251431.1:c.683G>C, XM_005251432.1:c.539G>C, XM_005251433.1:c.155G>C, XM_005251434.1:c.155G>C, XM_005251435.1:c.*168G>CVOUS09/25/2015
146GALTEx8NM_000155.3:c.688-2A>CNM_000155.2:c.688-2A>C, NM_000155.3:c.688-2A>C, NM_001142784.1:c.-3474A>C, NM_001142784.2:c.-3474A>C, NM_001258332.1:c.361-2A>C, XM_005251430.1:c.688-2A>C, XM_005251431.1:c.688-2A>C, XM_005251432.1:c.544-2A>C, XM_005251433.1:c.160-2A>C, XM_005251434.1:c.160-2A>C, XM_005251435.1:c.*476A>CPathogenic11/01/2012 
147GALTEx8NM_000155.3:c.691C>Tp.Arg231Cys | p.R231CNM_000155.2:c.691C>T, NM_000155.3:c.691C>T, NM_001142784.1:c.-3469C>T, NM_001142784.2:c.-3469C>T, NM_001258332.1:c.364C>T, XM_005251430.1:c.691C>T, XM_005251431.1:c.691C>T, XM_005251432.1:c.547C>T, XM_005251433.1:c.163C>T, XM_005251434.1:c.163C>T, XM_005251435.1:c.*481C>TPathogenic02/15/2018 
148GALTEx8NM_000155.3:c.692G>Ap.Arg231His | p.R231HNM_000155.2:c.692G>A, NM_000155.3:c.692G>A, NM_001142784.1:c.-3468G>A, NM_001142784.2:c.-3468G>A, NM_001258332.1:c.365G>A, XM_005251430.1:c.692G>A, XM_005251431.1:c.692G>A, XM_005251432.1:c.548G>A, XM_005251433.1:c.164G>A, XM_005251434.1:c.164G>A, XM_005251435.1:c.*482G>APathogenic** 
149GALTEx8NM_000155.3:c.719_728delTAGTACTGGTPathogenic** 
150GALTEx8NM_000155.3:c.745T>Cp.Trp249Arg | p.W249RNM_000155.2:c.745T>C, NM_000155.3:c.745T>C, NM_001142784.1:c.-3415T>C, NM_001142784.2:c.-3415T>C, NM_001258332.1:c.418T>C, XM_005251430.1:c.745T>C, XM_005251431.1:c.745T>C, XM_005251432.1:c.601T>C, XM_005251433.1:c.217T>C, XM_005251434.1:c.217T>C, XM_005251435.1:c.*535T>CLikely pathogenic06/03/2019 
151GALTEx8NM_000155.3:c.752A>Cp.Tyr251Ser | p.Y251SNM_000155.2:c.752A>C, NM_000155.3:c.752A>C, NM_001142784.1:c.-3408A>C, NM_001142784.2:c.-3408A>C, NM_001258332.1:c.425A>C, XM_005251430.1:c.752A>C, XM_005251431.1:c.752A>C, XM_005251432.1:c.608A>C, XM_005251433.1:c.224A>C, XM_005251434.1:c.224A>C, XM_005251435.1:c.*542A>CVOUS02/19/2016
152GALTEx8NM_000155.3:c.752_753delACinsCTNM_000155.2:c.752_753delinsCT, NM_000155.3:c.752_753delinsCT, NM_001142784.1:c.-3408_-3407delinsCT, NM_001142784.2:c.-3408_-3407delinsCT, NM_001258332.1:c.425_426delinsCT, XM_005251430.1:c.752_753delinsCT, XM_005251431.1:c.752_753delinsCT, XM_005251432.1:c.608_609delinsCT, XM_005251433.1:c.224_225delinsCT, XM_005251434.1:c.224_225delinsCT, XM_005251435.1:c.*542_*543delinsCTLikely pathogenic02/22/2016 
153GALTEx8NM_000155.3:c.772C>Tp.Arg258Cys | p.R258CNM_000155.2:c.772C>T, NM_000155.3:c.772C>T, NM_001142784.1:c.-3388C>T, NM_001142784.2:c.-3388C>T, NM_001258332.1:c.445C>TPathogenic07/16/2013 
154GALTEx8NM_000155.3:c.775C>Tp.Arg259Trp | p.R259WNM_000155.2:c.775C>T, NM_000155.3:c.775C>T, NM_001142784.1:c.-3385C>T, NM_001142784.2:c.-3385C>T, NM_001258332.1:c.448C>T, XM_005251430.1:c.775C>T, XM_005251431.1:c.775C>T, XM_005251432.1:c.631C>T, XM_005251433.1:c.247C>T, XM_005251434.1:c.247C>T, XM_005251435.1:c.*565C>TPathogenic06/08/2015 
155GALTEx8NM_000155.3:c.776G>Ap.Arg259Gln | p.R259QNM_000155.2:c.776G>A, NM_000155.3:c.776G>A, NM_001142784.1:c.-3384G>A, NM_001142784.2:c.-3384G>A, NM_001258332.1:c.449G>A, XM_005251430.1:c.776G>A, XM_005251431.1:c.776G>A, XM_005251432.1:c.632G>A, XM_005251433.1:c.248G>A, XM_005251434.1:c.248G>A, XM_005251435.1:c.*566G>ALikely pathogenic07/05/2017 
156GALTEx8NM_000155.3:c.790_792delinsTAGp.Leu264* | p.L264XNM_000155.2:c.790_792delinsTAG, NM_000155.3:c.790_792delinsTAG, NM_001142784.1:c.-3370_-3368delinsTAG, NM_001142784.2:c.-3370_-3368delinsTAG, NM_001258332.1:c.463_465delinsTAG, XM_005251430.1:c.790_792delinsTAG, XM_005251431.1:c.790_792delinsTAG, XM_005251432.1:c.646_648delinsTAG, XM_005251433.1:c.262_264delinsTAG, XM_005251434.1:c.262_264delinsTAG, XM_005251435.1:c.*580_*582delinsTAGPathogenic03/27/2019 
157GALTEx8NM_000155.3:c.790delCNM_000155.2:c.790delC, NM_000155.3:c.790delC, NM_001142784.1:c.-3370delC, NM_001142784.2:c.-3370delC, NM_001258332.1:c.463delCPathogenic** 
158GALTEx8NM_000155.3:c.793C>Gp.Pro265Ala | p.P265ANM_000155.2:c.793C>G, NM_000155.3:c.793C>G, NM_001142784.1:c.-3367C>G, NM_001142784.2:c.-3367C>G, NM_001258332.1:c.466C>G, XM_005251430.1:c.793C>G, XM_005251431.1:c.793C>G, XM_005251432.1:c.649C>G, XM_005251433.1:c.265C>G, XM_005251434.1:c.265C>G, XM_005251435.1:c.*583C>GVOUS10/04/2016
159GALTEx8NM_000155.3:c.812A>Gp.Glu271Gly | p.E271GNM_000155.2:c.812A>G, NM_000155.3:c.812A>G, NM_001142784.1:c.-3348A>G, NM_001142784.2:c.-3348A>G, NM_001258332.1:c.485A>G, XM_005251430.1:c.812A>G, XM_005251431.1:c.812A>G, XM_005251432.1:c.668A>G, XM_005251433.1:c.284A>G, XM_005251434.1:c.284A>G, XM_005251435.1:c.*602A>GVOUS09/29/2015
160GALTEx8NM_000155.3:c.815G>Ap.Arg272His | p.R272HNM_000155.2:c.815G>A, NM_000155.3:c.815G>A, NM_001142784.1:c.-3345G>A, NM_001142784.2:c.-3345G>A, NM_001258332.1:c.488G>A, XM_005251430.1:c.815G>A, XM_005251431.1:c.815G>A, XM_005251432.1:c.671G>A, XM_005251433.1:c.287G>A, XM_005251434.1:c.287G>A, XM_005251435.1:c.*605G>APathogenic10/29/2018 
161GALTEx8NM_000155.3:c.817G>Cp.Asp273His | p.D273HNM_000155.2:c.817G>C, NM_000155.3:c.817G>C, NM_001142784.1:c.-3343G>C, NM_001142784.2:c.-3343G>C, NM_001258332.1:c.490G>C, XM_005251430.1:c.817G>C, XM_005251431.1:c.817G>C, XM_005251432.1:c.673G>C, XM_005251433.1:c.289G>C, XM_005251434.1:c.289G>C, XM_005251435.1:c.*607G>CVOUS09/29/2015
162GALTEx8NM_000155.3:c.820+4A>CNM_000155.2:c.820+4A>C, NM_000155.3:c.820+4A>C, NM_001142784.1:c.-3336A>C, NM_001142784.2:c.-3336A>C, NM_001258332.1:c.493+4A>C, NR_052010.1:n.-4999A>CVOUS09/29/2015
163GALTEx8NM_000155.3:c.820+13A>GNM_000155.2:c.820+13A>G, NM_000155.3:c.820+13A>G, NM_001142784.1:c.-3327A>G, NM_001142784.2:c.-3327A>G, NM_001258332.1:c.493+13A>G, NR_052010.1:n.-4990A>G, XM_005251430.1:c.820+13A>G, XM_005251431.1:c.820+13A>G, XM_005251432.1:c.676+13A>G, XM_005251433.1:c.292+13A>G, XM_005251434.1:c.292+13A>G, XM_005251435.1:c.*623A>GPathogenic07/03/2017 
164GALTEx8NM_000155.3:c.820+26G>ANM_000155.2:c.820+26G>A, NM_000155.3:c.820+26G>A, NM_001142784.1:c.-3314G>A, NM_001142784.2:c.-3314G>A, NM_001258332.1:c.493+26G>A, NR_052010.1:n.-4977G>A, XM_005251430.1:c.820+26G>A, XM_005251431.1:c.820+26G>A, XM_005251432.1:c.676+26G>A, XM_005251433.1:c.292+26G>A, XM_005251434.1:c.292+26G>A, XM_005251435.1:c.*636G>AVOUS09/29/2015
165GALTEx9NM_000155.3:c.823C>Gp.Leu275Val | p.L275VNM_000155.2:c.823C>G, NM_000155.3:c.823C>G, NM_001142784.1:c.-3234C>G, NM_001142784.2:c.-3234C>G, NM_001258332.1:c.496C>G, NM_004512.3:c.-5000C>G, NM_147162.1:c.-5000C>G, NR_052010.1:n.-4897C>G, XM_005251430.1:c.823C>G, XM_005251431.1:c.820+106C>G, XM_005251432.1:c.679C>G, XM_005251433.1:c.295C>G, XM_005251434.1:c.295C>G, XM_005251435.1:c.*716C>GPathogenic** 
166GALTEx9NM_000155.3:c.833T>Cp.Ile278Thr | p.I278TNM_000155.2:c.833T>C, NM_000155.3:c.833T>C, NM_001142784.1:c.-3224T>C, NM_001142784.2:c.-3224T>C, NM_001258332.1:c.506T>C, NM_004512.3:c.-4990T>C, NM_147162.1:c.-4990T>C, NR_052010.1:n.-4887T>C, XM_005251430.1:c.833T>C, XM_005251431.1:c.820+116T>C, XM_005251432.1:c.689T>C, XM_005251433.1:c.305T>C, XM_005251434.1:c.305T>C, XM_005251435.1:c.*726T>CVOUS02/21/2017
167GALTEx9NM_000155.3:c.840G>Ap.Lys280= | p.K280=NM_000155.2:c.840G>A, NM_000155.3:c.840G>A, NM_001142784.1:c.-3217G>A, NM_001142784.2:c.-3217G>A, NM_001258332.1:c.513G>A, NM_004512.3:c.-4983G>A, NM_147162.1:c.-4983G>A, NR_052010.1:n.-4880G>A, XM_005251430.1:c.840G>A, XM_005251431.1:c.820+123G>A, XM_005251432.1:c.696G>A, XM_005251433.1:c.312G>A, XM_005251434.1:c.312G>A, XM_005251435.1:c.*733G>AVOUS07/03/2018
168GALTEx9NM_000155.3:c.844C>Gp.Leu282Val | p.L282VNM_000155.2:c.844C>G, NM_000155.3:c.844C>G, NM_001142784.1:c.-3213C>G, NM_001142784.2:c.-3213C>G, NM_001258332.1:c.517C>G, NM_004512.3:c.-4979C>G, NM_147162.1:c.-4979C>G, NR_052010.1:n.-4876C>G, XM_005251430.1:c.844C>G, XM_005251431.1:c.820+127C>G, XM_005251432.1:c.700C>G, XM_005251433.1:c.316C>G, XM_005251434.1:c.316C>G, XM_005251435.1:c.*737C>GLikely pathogenic03/04/2016 
169GALTEx9NM_000155.3:c.855G>Tp.Lys285Asn | p.K285NNM_000155.2:c.855G>T, NM_000155.3:c.855G>T, NM_001142784.1:c.-3202G>T, NM_001142784.2:c.-3202G>T, NM_001258332.1:c.528G>T, NM_004512.3:c.-4968G>T, NM_147162.1:c.-4968G>T, NR_052010.1:n.-4865G>T, XM_005251430.1:c.855G>T, XM_005251431.1:c.820+138G>T, XM_005251432.1:c.711G>T, XM_005251433.1:c.327G>T, XM_005251434.1:c.327G>T, XM_005251435.1:c.*748G>TPathogenic12/10/2020 
170GALTEx9NM_000155.3:c.863A>Gp.Asn288Ser | p.N288SNM_000155.2:c.863A>G, NM_000155.3:c.863A>G, NM_001142784.1:c.-3194A>G, NM_001142784.2:c.-3194A>G, NM_001258332.1:c.536A>G, NM_004512.3:c.-4960A>G, NM_147162.1:c.-4960A>G, NR_052010.1:n.-4857A>G, XM_005251430.1:c.863A>G, XM_005251431.1:c.820+146A>G, XM_005251432.1:c.719A>G, XM_005251433.1:c.335A>G, XM_005251434.1:c.335A>G, XM_005251435.1:c.*756A>GVOUS06/27/2019
171GALTEx9NM_000155.3:c.864C>Ap.Asn288Lys | p.N288KNM_000155.2:c.864C>A, NM_000155.3:c.864C>A, NM_001142784.1:c.-3193C>A, NM_001142784.2:c.-3193C>A, NM_001258332.1:c.537C>A, NM_004512.3:c.-4959C>A, NM_147162.1:c.-4959C>A, NR_052010.1:n.-4856C>AVOUS01/10/2014
172GALTEx9NM_000155.3:c.864C>Tp.Asn288= | p.N288=Benign** 
173GALTEx9NM_000155.3:c.875C>Tp.Thr292Met | p.T292MNM_000155.2:c.875C>T, NM_000155.3:c.875C>T, NM_001142784.1:c.-3182C>T, NM_001142784.2:c.-3182C>T, NM_001258332.1:c.548C>T, NM_004512.3:c.-4948C>T, NM_147162.1:c.-4948C>T, NR_052010.1:n.-4845C>T, XM_005251430.1:c.875C>T, XM_005251431.1:c.820+158C>T, XM_005251432.1:c.731C>T, XM_005251433.1:c.347C>T, XM_005251434.1:c.347C>T, XM_005251435.1:c.*768C>TVOUS09/29/2015
174GALTEx9NM_000155.3:c.876G>Ap.Thr292= | p.T292=NM_000155.2:c.876G>A, NM_000155.3:c.876G>A, NM_001142784.1:c.-3181G>A, NM_001142784.2:c.-3181G>A, NM_001258332.1:c.549G>A, NM_004512.3:c.-4947G>A, NM_147162.1:c.-4947G>A, NR_052010.1:n.-4844G>A, XM_005251430.1:c.876G>A, XM_005251431.1:c.820+159G>A, XM_005251432.1:c.732G>A, XM_005251433.1:c.348G>A, XM_005251434.1:c.348G>A, XM_005251435.1:c.*769G>ABenign07/20/2018 
175GALTEx9NM_000155.3:c.879C>Tp.Ser293= | p.S293=NM_000155.2:c.879C>T, NM_000155.3:c.879C>T, NM_001142784.1:c.-3178C>T, NM_001142784.2:c.-3178C>T, NM_001258332.1:c.552C>T, NM_004512.3:c.-4944C>T, NM_147162.1:c.-4944C>T, NR_052010.1:n.-4841C>T, XM_005251430.1:c.879C>T, XM_005251431.1:c.820+162C>T, XM_005251432.1:c.735C>T, XM_005251433.1:c.351C>T, XM_005251434.1:c.351C>T, XM_005251435.1:c.*772C>TBenign** 
176GALTEx9NM_000155.3:c.885_886insATGGCGTCCTTTCCCNM_000155.2:c.885_886insatggcgtcctttccc, NM_000155.3:c.885_886insatggcgtcctttccc, NM_001142784.1:c.-3172_-3171insatggcgtcctttccc, NM_001142784.2:c.-3172_-3171insatggcgtcctttccc, NM_001258332.1:c.558_559insatggcgtcctttccc, NM_004512.3:c.-4938_-4937insatggcgtcctttccc, NM_147162.1:c.-4938_-4937insatggcgtcctttccc, NR_052010.1:n.-4835_-4834insatggcgtcctttccc, XM_005251430.1:c.885_886insatggcgtcctttccc, XM_005251431.1:c.820+168_820+169insatggcgtcctttccc, XM_005251432.1:c.741_742insatggcgtcctttccc, XM_005251433.1:c.357_358insatggcgtcctttccc, XM_005251434.1:c.357_358insatggcgtcctttccc, XM_005251435.1:c.*778_*779insatggcgtcctttcccVOUS03/14/2016
177GALTEx9NM_000155.3:c.893T>Cp.Met298Thr | p.M298TNM_000155.2:c.893T>C, NM_000155.3:c.893T>C, NM_001142784.1:c.-3164T>C, NM_001142784.2:c.-3164T>C, NM_001258332.1:c.566T>C, NM_004512.3:c.-4930T>C, NM_147162.1:c.-4930T>C, NR_052010.1:n.-4827T>C, XM_005251430.1:c.893T>C, XM_005251431.1:c.820+176T>C, XM_005251432.1:c.749T>C, XM_005251433.1:c.365T>C, XM_005251434.1:c.365T>C, XM_005251435.1:c.*786T>CVOUS09/29/2015
178GALTEx9NM_000155.3:c.902A>Gp.His301Arg | p.H301RNM_000155.2:c.902A>G, NM_000155.3:c.902A>G, NM_001142784.1:c.-3155A>G, NM_001142784.2:c.-3155A>G, NM_001258332.1:c.575A>G, NM_004512.3:c.-4921A>G, NM_147162.1:c.-4921A>G, NR_052010.1:n.-4818A>G, XM_005251430.1:c.902A>G, XM_005251431.1:c.820+185A>G, XM_005251432.1:c.758A>G, XM_005251433.1:c.374A>G, XM_005251434.1:c.374A>G, XM_005251435.1:c.*795A>GVOUS09/29/2015
179GALTEx9NM_000155.3:c.904+1G>TNM_000155.2:c.904+1G>T, NM_000155.3:c.904+1G>T, NM_001142784.1:c.-3152G>T, NM_001142784.2:c.-3152G>T, NM_001258332.1:c.577+1G>T, NM_004512.3:c.-4918G>T, NM_147162.1:c.-4918G>T, NR_052010.1:n.-4815G>T, XM_005251430.1:c.904+1G>T, XM_005251431.1:c.820+188G>T, XM_005251432.1:c.760+1G>T, XM_005251433.1:c.376+1G>T, XM_005251434.1:c.376+1G>T, XM_005251435.1:c.*798G>TPathogenic11/01/2012 
180GALTEx10NM_000155.3:c.905-2A>GPathogenic11/01/2012 
181GALTEx10NM_000155.3:c.905-1G>ANM_000155.2:c.905-1G>A, NM_000155.3:c.905-1G>A, NM_001142784.1:c.-2825G>A, NM_001142784.2:c.-2825G>A, NM_001258332.1:c.578-1G>A, NM_004512.3:c.-4591G>A, NM_147162.1:c.-4591G>A, NR_052010.1:n.-4488G>A, XM_005251430.1:c.905-13G>A, XM_005251431.1:c.821-1G>A, XM_005251432.1:c.761-1G>A, XM_005251433.1:c.377-1G>A, XM_005251434.1:c.377-1G>A, XM_005251435.1:c.*1125G>APathogenic03/16/2015 
182GALTEx10NM_000155.3:c.907G>Ap.Ala303Thr | p.A303TNM_000155.2:c.907G>A, NM_000155.3:c.907G>A, NM_001142784.1:c.-2822G>A, NM_001142784.2:c.-2822G>A, NM_001258332.1:c.580G>A, NM_004512.3:c.-4588G>A, NM_147162.1:c.-4588G>A, NR_052010.1:n.-4485G>A, XM_005251430.1:c.905-10G>A, XM_005251431.1:c.823G>A, XM_005251432.1:c.763G>A, XM_005251433.1:c.379G>A, XM_005251434.1:c.379G>A, XM_005251435.1:c.*1128G>ALikely pathogenic06/12/2020 
183GALTEx10NM_000155.3:c.939G>Ap.Trp313* | p.W313XPathogenic** 
184GALTEx10NM_000155.3:c.940A>Gp.Asn314Asp | p.N314DNM_000155.2:c.940A>G, NM_000155.3:c.940A>G, NM_001142784.1:c.-2789A>G, NM_001142784.2:c.-2789A>G, NM_001258332.1:c.613A>G, NM_004512.3:c.-4555A>G, NM_147162.1:c.-4555A>G, NR_052010.1:n.-4452A>G, XM_005251430.1:c.928A>G, XM_005251431.1:c.856A>G, XM_005251432.1:c.796A>G, XM_005251433.1:c.412A>G, XM_005251434.1:c.412A>G, XM_005251435.1:c.*1161A>GOther Reportable12/03/2020 
185GALTEx10NM_000155.3:c.945T>Cp.His315= | p.H315=NM_000155.2:c.945T>C, NM_000155.3:c.945T>C, NM_001142784.1:c.-2784T>C, NM_001142784.2:c.-2784T>C, NM_001258332.1:c.618T>C, NM_004512.3:c.-4550T>C, NM_147162.1:c.-4550T>C, NR_052010.1:n.-4447T>C, XM_005251430.1:c.933T>C, XM_005251431.1:c.861T>C, XM_005251432.1:c.801T>C, XM_005251433.1:c.417T>C, XM_005251434.1:c.417T>C, XM_005251435.1:c.*1166T>CBenign07/20/2018 
186GALTEx10NM_000155.3:c.947G>Ap.Trp316* | p.W316XPathogenic** 
187GALTEx10NM_000155.3:c.957C>Ap.His319Gln | p.H319QNM_000155.2:c.957C>A, NM_000155.3:c.957C>A, NM_001142784.1:c.-2772C>A, NM_001142784.2:c.-2772C>A, NM_001258332.1:c.630C>A, NM_004512.3:c.-4538C>A, NM_147162.1:c.-4538C>A, NR_052010.1:n.-4435C>A, XM_005251430.1:c.945C>A, XM_005251431.1:c.873C>A, XM_005251432.1:c.813C>A, XM_005251433.1:c.429C>A, XM_005251434.1:c.429C>A, XM_005251435.1:c.*1178C>APathogenic12/13/2017 
188GALTEx10NM_000155.3:c.958G>Ap.Ala320Thr | p.A320TNM_000155.2:c.958G>A, NM_000155.3:c.958G>A, NM_001142784.1:c.-2771G>A, NM_001142784.2:c.-2771G>A, NM_001258332.1:c.631G>A, NM_004512.3:c.-4537G>A, NM_147162.1:c.-4537G>A, NR_052010.1:n.-4434G>A, XM_005251430.1:c.946G>A, XM_005251431.1:c.874G>A, XM_005251432.1:c.814G>A, XM_005251433.1:c.430G>A, XM_005251434.1:c.430G>A, XM_005251435.1:c.*1179G>AVOUS04/19/2016
189GALTEx10NM_000155.3:c.961C>Tp.His321Tyr | p.H321YNM_000155.2:c.961C>T, NM_000155.3:c.961C>T, NM_001142784.1:c.-2768C>T, NM_001142784.2:c.-2768C>T, NM_001258332.1:c.634C>T, NM_004512.3:c.-4534C>T, NM_147162.1:c.-4534C>T, NR_052010.1:n.-4431C>T, XM_005251430.1:c.949C>T, XM_005251431.1:c.877C>T, XM_005251432.1:c.817C>T, XM_005251433.1:c.433C>T, XM_005251434.1:c.433C>T, XM_005251435.1:c.*1182C>TVOUS07/25/2019
190GALTEx10NM_000155.3:c.982C>Tp.Arg328Cys | p.R328CNM_000155.2:c.982C>T, NM_000155.3:c.982C>T, NM_001142784.1:c.-2747C>T, NM_001142784.2:c.-2747C>T, NM_001258332.1:c.655C>T, NM_004512.3:c.-4513C>T, NM_147162.1:c.-4513C>T, NR_052010.1:n.-4410C>T, XM_005251430.1:c.970C>T, XM_005251431.1:c.898C>T, XM_005251432.1:c.838C>T, XM_005251433.1:c.454C>T, XM_005251434.1:c.454C>T, XM_005251435.1:c.*1203C>TLikely pathogenic11/08/2019 
191GALTEx10NM_000155.3:c.985T>Cp.Ser329Pro | p.S329PNM_000155.2:c.985T>C, NM_000155.3:c.985T>C, NM_001142784.1:c.-2744T>C, NM_001142784.2:c.-2744T>C, NM_001258332.1:c.658T>C, NM_004512.3:c.-4510T>C, NM_147162.1:c.-4510T>C, NR_052010.1:n.-4407T>C, XM_005251430.1:c.973T>C, XM_005251431.1:c.901T>C, XM_005251432.1:c.841T>C, XM_005251433.1:c.457T>C, XM_005251434.1:c.457T>C, XM_005251435.1:c.*1206T>CLikely pathogenic08/06/2012 
192GALTEx10NM_000155.3:c.997C>Gp.Arg333Gly | p.R333GNM_000155.2:c.997C>G, NM_000155.3:c.997C>G, NM_001142784.1:c.-2732C>G, NM_001142784.2:c.-2732C>G, NM_001258332.1:c.670C>G, NM_004512.3:c.-4498C>G, NM_147162.1:c.-4498C>G, NR_052010.1:n.-4395C>G, XM_005251430.1:c.985C>G, XM_005251431.1:c.913C>G, XM_005251432.1:c.853C>G, XM_005251433.1:c.469C>G, XM_005251434.1:c.469C>G, XM_005251435.1:c.*1218C>GPathogenic** 
193GALTEx10NM_000155.3:c.997C>Tp.Arg333Trp | p.R333WNM_000155.2:c.997C>T, NM_000155.3:c.997C>T, NM_001142784.1:c.-2732C>T, NM_001142784.2:c.-2732C>T, NM_001258332.1:c.670C>T, NM_004512.3:c.-4498C>T, NM_147162.1:c.-4498C>T, NR_052010.1:n.-4395C>T, XM_005251430.1:c.985C>T, XM_005251431.1:c.913C>T, XM_005251432.1:c.853C>T, XM_005251433.1:c.469C>T, XM_005251434.1:c.469C>T, XM_005251435.1:c.*1218C>TPathogenic09/02/2016 
194GALTEx10NM_000155.3:c.998G>Ap.Arg333Gln | p.R333QPathogenic** 
195GALTEx10NM_000155.3:c.1006A>Tp.Met336Leu | p.M336LPathogenic** 
196GALTEx10NM_000155.3:c.1006A>Gp.Met336Val | p.M336VNM_000155.2:c.1006A>G, NM_000155.3:c.1006A>G, NM_001142784.1:c.-2723A>G, NM_001142784.2:c.-2723A>G, NM_001258332.1:c.679A>G, NM_004512.3:c.-4489A>G, NM_147162.1:c.-4489A>G, NR_052010.1:n.-4386A>G, XM_005251430.1:c.994A>G, XM_005251431.1:c.922A>G, XM_005251432.1:c.862A>G, XM_005251433.1:c.478A>G, XM_005251434.1:c.478A>G, XM_005251435.1:c.*1227A>GVOUS09/18/2015
197GALTEx10NM_000155.3:c.1014C>Gp.Gly338= | p.G338=NM_000155.2:c.1014C>G, NM_000155.3:c.1014C>G, NM_001142784.1:c.-2715C>G, NM_001142784.2:c.-2715C>G, NM_001258332.1:c.687C>G, NM_004512.3:c.-4481C>G, NM_147162.1:c.-4481C>G, NR_052010.1:n.-4378C>G, XM_005251430.1:c.1002C>G, XM_005251431.1:c.930C>G, XM_005251432.1:c.870C>G, XM_005251433.1:c.486C>G, XM_005251434.1:c.486C>G, XM_005251435.1:c.*1235C>GLikely pathogenic09/18/2015 
198GALTEx10NM_000155.3:c.1030C>Ap.Gln344Lys | p.Q344KNM_000155.2:c.1030C>A, NM_000155.3:c.1030C>A, NM_001142784.1:c.-2699C>A, NM_001142784.2:c.-2699C>A, NM_001258332.1:c.703C>A, NM_004512.3:c.-4465C>A, NM_147162.1:c.-4465C>A, NR_052010.1:n.-4362C>APathogenic03/15/2019 
199GALTEx10NM_000155.3:c.1048delAPathogenic** 
200GALTEx10NM_000155.3:c.1049C>Tp.Thr350Ile | p.T350INM_000155.2:c.1049C>T, NM_000155.3:c.1049C>T, NM_001142784.1:c.-2680C>T, NM_001142784.2:c.-2680C>T, NM_001258332.1:c.722C>T, NM_004512.3:c.-4446C>T, NM_147162.1:c.-4446C>T, NR_052010.1:n.-4343C>T, XM_005251430.1:c.1037C>T, XM_005251431.1:c.965C>T, XM_005251432.1:c.905C>T, XM_005251433.1:c.521C>T, XM_005251434.1:c.521C>T, XM_005251435.1:c.*1270C>TVOUS10/04/2016
201GALTEx10NM_000155.3:c.1052delCNM_000155.2:c.1052delC, NM_000155.3:c.1052delC, NM_001142784.1:c.-2677delC, NM_001142784.2:c.-2677delC, NM_001258332.1:c.725delC, NM_004512.3:c.-4443delC, NM_147162.1:c.-4443delC, NR_052010.1:n.-4340delC, XM_005251430.1:c.1040delC, XM_005251431.1:c.968delC, XM_005251432.1:c.908delC, XM_005251433.1:c.524delC, XM_005251434.1:c.524delC, XM_005251435.1:c.*1273delCPathogenic05/28/2015 
202GALTEx10NM_000155.3:c.1057C>Tp.Gln353* | p.Q353XNM_000155.2:c.1057C>T, NM_000155.3:c.1057C>T, NM_001142784.1:c.-2672C>T, NM_001142784.2:c.-2672C>T, NM_001258332.1:c.730C>T, NM_004512.3:c.-4438C>T, NM_147162.1:c.-4438C>T, NR_052010.1:n.-4335C>T, XM_005251430.1:c.1045C>T, XM_005251431.1:c.973C>T, XM_005251432.1:c.913C>T, XM_005251433.1:c.529C>T, XM_005251434.1:c.529C>T, XM_005251435.1:c.*1278C>TLikely pathogenic06/21/2019 
203GALTEx10NM_000155.3:c.1059+11A>GNM_000155.2:c.1059+11A>G, NM_000155.3:c.1059+11A>G, NM_001142784.1:c.-2659A>G, NM_001142784.2:c.-2659A>G, NM_001258332.1:c.732+11A>G, NM_004512.3:c.-4425A>G, NM_147162.1:c.-4425A>G, NR_052010.1:n.-4322A>G, XM_005251430.1:c.1047+11A>G, XM_005251431.1:c.975+11A>G, XM_005251432.1:c.915+11A>G, XM_005251433.1:c.531+11A>G, XM_005251434.1:c.531+11A>G, XM_005251435.1:c.*1291A>GVOUS08/21/2015
204GALTEx11NM_000155.3:c.1060-1G>ANM_000155.2:c.1060-1G>A, NM_000155.3:c.1060-1G>A, NM_001142784.1:c.-1866G>A, NM_001142784.2:c.-1866G>A, NM_001258332.1:c.733-1G>A, NM_004512.3:c.-3632G>A, NM_147162.1:c.-3632G>A, NR_052010.1:n.-3529G>A, XM_005251430.1:c.1048-1G>A, XM_005251431.1:c.976-1G>A, XM_005251432.1:c.916-1G>A, XM_005251433.1:c.532-1G>A, XM_005251434.1:c.532-1G>A, XM_005251435.1:c.*2084G>APathogenic08/24/2015 
205GALTEx11NM_000155.3:c.1081C>Tp.Leu361Phe | p.L361FNM_000155.2:c.1081C>T, NM_000155.3:c.1081C>T, NM_001142784.1:c.-1844C>T, NM_001142784.2:c.-1844C>T, NM_001258332.1:c.754C>T, NM_004512.3:c.-3610C>T, NM_147162.1:c.-3610C>T, NR_052010.1:n.-3507C>T, XM_005251430.1:c.1069C>T, XM_005251431.1:c.997C>T, XM_005251432.1:c.937C>T, XM_005251433.1:c.553C>T, XM_005251434.1:c.553C>T, XM_005251435.1:c.*2106C>TVOUS09/18/2015
206GALTEx11NM_000155.3:c.1139G>Cp.*380Ser | p.X380SNM_000155.2:c.1139G>C, NM_000155.3:c.1139G>C, NM_001142784.1:c.-1786G>C, NM_001142784.2:c.-1786G>C, NM_001258332.1:c.812G>C, NM_004512.3:c.-3552G>C, NM_147162.1:c.-3552G>C, NR_052010.1:n.-3449G>C, XM_005251430.1:c.1127G>C, XM_005251431.1:c.1055G>C, XM_005251432.1:c.995G>C, XM_005251433.1:c.611G>C, XM_005251434.1:c.611G>C, XM_005251435.1:c.*2164G>CLikely pathogenic04/30/2015 

* 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.