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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  
1GLB1Ex1NM_000404.2:c.1A>Cp.Met1? | p.M1?NM_000404.2:c.1A>C, NM_001039770.2:c.-475A>C, NM_001079811.1:c.-382A>C, NM_001135602.1:c.1A>C, NM_001136238.1:c.-371A>C, XM_005265394.1:c.1A>C, XM_005265395.1:c.-526A>C, XM_005265396.1:c.-183A>C, XM_005265397.1:c.-855A>C, XM_005265398.1:c.1A>C, XM_005265399.1:c.1A>CLikely pathogenic04/30/2015 
2GLB1Ex1NM_000404.2:c.29C>Tp.Pro10Leu | p.P10LNM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T, NM_001079811.1:c.-354C>T, NM_001135602.1:c.29C>T, NM_001136238.1:c.-343C>TBenign08/31/2017 
3GLB1Ex1NM_000404.2:c.34T>Cp.Leu12= | p.L12=NM_000404.2:c.34T>C, NM_001039770.2:c.-442T>C, NM_001079811.1:c.-349T>C, NM_001135602.1:c.34T>C, NM_001136238.1:c.-338T>CBenign08/31/2017 
4GLB1Ex1NM_000404.2:c.-37C>GNM_000404.2:c.-37C>G, NM_001039770.2:c.-512C>G, NM_001079811.1:c.-419C>G, NM_001135602.1:c.-37C>G, NM_001136238.1:c.-408C>G, XM_005265394.1:c.-37C>G, XM_005265395.1:c.-563C>G, XM_005265396.1:c.-220C>G, XM_005265397.1:c.-892C>G, XM_005265398.1:c.-37C>G, XM_005265399.1:c.-37C>GBenign01/31/2017 
5GLB1Ex1NM_000404.2:c.51dupTp.Leu18Serfs*16 | p.L18SfsX16NM_000404.2:c.51_52insT, NM_000404.2:c.51dup, NM_000404.2:c.51dupT, NM_001039770.2:c.-425_-424insT, NM_001039770.2:c.-425dup, NM_001039770.2:c.-425dupT, NM_001079811.1:c.-332_-331insT, NM_001079811.1:c.-332dup, NM_001079811.1:c.-332dupT, NM_001135602.1:c.51_52insT, NM_001135602.1:c.51dup, NM_001135602.1:c.51dupT, NM_001136238.1:c.-321_-320insT, NM_001136238.1:c.-321dup, NM_001136238.1:c.-321dupT, XM_005265394.1:c.51_52insT, XM_005265394.1:c.51dupT, XM_005265395.1:c.-476_-475insT, XM_005265395.1:c.-476dupT, XM_005265396.1:c.-133_-132insT, XM_005265396.1:c.-133dupT, XM_005265397.1:c.-805_-804insT, XM_005265397.1:c.-805dupT, XM_005265398.1:c.51_52insT, XM_005265398.1:c.51dupT, XM_005265399.1:c.51_52insT, XM_005265399.1:c.51dupTPathogenic09/13/2013 
6GLB1Ex1NM_000404.2:c.65_75delGCGGCTTGCGCPathogenic** 
7GLB1Ex1NM_000404.2:c.75+1delGNM_000404.2:c.75+1delG, NM_001039770.2:c.-400delG, NM_001079811.1:c.-307delG, NM_001135602.1:c.75+1delG, NM_001136238.1:c.-296delG, XM_005265394.1:c.75+1delG, XM_005265395.1:c.-451delG, XM_005265396.1:c.-109+1delG, XM_005265397.1:c.-780delG, XM_005265398.1:c.75+1delG, XM_005265399.1:c.75+1delGPathogenic** 
8GLB1Ex1NM_000404.2:c.75+1G>CPathogenic08/30/2012 
9GLB1Ex2NM_000404.2:c.107A>Gp.Tyr36Cys | p.Y36CNM_000404.2:c.107A>G, NM_001079811.1:c.17A>G, NM_001135602.1:c.107A>G, XM_002342325.1:c.271-4513T>C, XM_005265394.1:c.251A>G, XM_005265395.1:c.17A>G, XM_005265398.1:c.251A>G, XM_005265399.1:c.251A>GVOUS**
10GLB1Ex2NM_000404.2:c.145C>Tp.Arg49Cys | p.R49CNM_000404.2:c.145C>T, NM_001079811.1:c.55C>T, NM_001135602.1:c.145C>T, XM_002342325.1:c.271-4551G>A, XM_005265394.1:c.289C>T, XM_005265395.1:c.55C>T, XM_005265398.1:c.289C>T, XM_005265399.1:c.289C>TVOUS06/24/2014
11GLB1Ex2NM_000404.2:c.169delTNM_000404.2:c.169delT, NM_001079811.1:c.79delT, NM_001135602.1:c.169delT, XM_002342325.1:c.271-4575delA, XM_005265394.1:c.313delT, XM_005265395.1:c.79delT, XM_005265398.1:c.313delT, XM_005265399.1:c.313delTPathogenic01/28/2015 
12GLB1Ex2NM_000404.2:c.171C>Gp.Tyr57* | p.Y57XNM_000404.2:c.171C>G, NM_001079811.1:c.81C>G, NM_001135602.1:c.171C>G, XM_002342325.1:c.271-4577G>CPathogenic08/30/2013 
13GLB1Ex2NM_000404.2:c.175C>Tp.Arg59Cys | p.R59CNM_000404.2:c.175C>T, NM_001079811.1:c.85C>T, NM_001135602.1:c.175C>T, XM_002342325.1:c.271-4581G>A, XM_005265394.1:c.319C>T, XM_005265395.1:c.85C>T, XM_005265398.1:c.319C>T, XM_005265399.1:c.319C>TPathogenic03/03/2017 
14GLB1Ex2NM_000404.2:c.176G>Ap.Arg59His | p.R59HNM_000404.2:c.176G>A, NM_001079811.1:c.86G>A, NM_001135602.1:c.176G>A, XM_002342325.1:c.271-4582C>T, XM_005265394.1:c.320G>A, XM_005265395.1:c.86G>A, XM_005265398.1:c.320G>A, XM_005265399.1:c.320G>APathogenic02/18/2013 
15GLB1Ex2NM_000404.2:c.202C>Tp.Arg68Trp | p.R68WNM_000404.2:c.202C>T, NM_001079811.1:c.112C>T, NM_001135602.1:c.202C>T, XM_002342325.1:c.271-4608G>A, XM_005265394.1:c.346C>T, XM_005265395.1:c.112C>T, XM_005265398.1:c.346C>T, XM_005265399.1:c.346C>TPathogenic** 
16GLB1Ex2NM_000404.2:c.203G>Tp.Arg68Leu | p.R68LVOUS**
17GLB1Ex2NM_000404.2:c.203G>Ap.Arg68Gln | p.R68QNM_000404.2:c.203G>A, NM_001079811.1:c.113G>A, NM_001135602.1:c.203G>A, XM_002342325.1:c.271-4609C>T, XM_005265394.1:c.347G>A, XM_005265395.1:c.113G>A, XM_005265398.1:c.347G>A, XM_005265399.1:c.347G>APathogenic04/20/2020 
18GLB1Ex2NM_000404.2:c.245+1G>APathogenic** 
19GLB1Ex3NM_000404.2:c.276G>Ap.Trp92* | p.W92XNM_000404.2:c.276G>A, NM_001079811.1:c.186G>A, NM_001135602.1:c.246-3383G>A, XM_002342325.1:c.271-8255C>TPathogenic** 
20GLB1Ex3NM_000404.2:c.325C>Tp.Arg109Trp | p.R109WNM_000404.2:c.325C>T, NM_001079811.1:c.235C>T, NM_001135602.1:c.246-3334C>T, XM_002342325.1:c.271-8304G>A, XM_005265394.1:c.469C>T, XM_005265395.1:c.235C>T, XM_005265398.1:c.469C>T, XM_005265399.1:c.469C>TBenign05/22/2015 
21GLB1Ex3NM_000404.2:c.335A>Cp.His112Pro | p.H112PNM_000404.2:c.335A>C, NM_001079811.1:c.245A>C, NM_001135602.1:c.246-3324A>C, XM_002342325.1:c.271-8314T>G, XM_005265394.1:c.479A>C, XM_005265395.1:c.245A>C, XM_005265398.1:c.479A>C, XM_005265399.1:c.479A>CVOUS**
22GLB1Ex3NM_000404.2:c.377T>Cp.Ile126Thr | p.I126TVOUS**
23GLB1Ex3NM_000404.2:c.385G>Ap.Glu129Lys | p.E129KNM_000404.2:c.385G>A, NM_001079811.1:c.295G>A, NM_001135602.1:c.246-3274G>A, XM_002342325.1:c.271-8364C>T, XM_005265394.1:c.529G>A, XM_005265395.1:c.295G>A, XM_005265398.1:c.529G>A, XM_005265399.1:c.529G>AVOUS10/21/2015
24GLB1Ex4NM_000404.2:c.397-11T>CBenign** 
25GLB1Ex4NM_000404.2:c.397-1G>APathogenic11/01/2012 
26GLB1Ex4NM_000404.2:c.438_440delTCTPathogenic** 
27GLB1Ex4NM_000404.2:c.442C>Tp.Arg148Cys | p.R148CNM_000404.2:c.442C>T, NM_001079811.1:c.352C>T, NM_001135602.1:c.246-2688C>T, XM_002342325.1:c.271-8950G>APathogenic01/11/2018 
28GLB1Ex4NM_000404.2:c.442C>Ap.Arg148Ser | p.R148SNM_000404.2:c.442C>A, NM_001079811.1:c.352C>A, NM_001135602.1:c.246-2688C>A, XM_002342325.1:c.271-8950G>T, XM_005265394.1:c.586C>A, XM_005265395.1:c.352C>A, XM_005265398.1:c.586C>A, XM_005265399.1:c.586C>APathogenic01/17/2018 
29GLB1Ex4NM_000404.2:c.457+2T>CPathogenic11/01/2012 
30GLB1Ex5NM_000404.2:c.458-11T>CNM_000404.2:c.458-11T>C, NM_001079811.1:c.368-11T>C, NM_001135602.1:c.246-11T>C, XM_002342325.1:c.270+7941A>G, XM_005265394.1:c.602-11T>C, XM_005265395.1:c.368-11T>C, XM_005265398.1:c.602-11T>C, XM_005265399.1:c.602-11T>CBenign02/18/2013 
31GLB1Ex5NM_000404.2:c.481T>Gp.Trp161Gly | p.W161GNM_000404.2:c.481T>G, NM_001079811.1:c.391T>G, NM_001135602.1:c.269T>G, XM_002342325.1:c.270+7907A>C, XM_005265394.1:c.625T>G, XM_005265395.1:c.391T>G, XM_005265398.1:c.625T>G, XM_005265399.1:c.625T>GVOUS02/28/2019
32GLB1Ex5NM_000404.2:c.552+21G>ANM_000404.2:c.552+21G>A, NM_001079811.1:c.462+21G>A, NM_001135602.1:c.340+21G>A, XM_002342325.1:c.270+7815C>T, XM_005265394.1:c.696+21G>A, XM_005265395.1:c.462+21G>A, XM_005265398.1:c.696+21G>A, XM_005265399.1:c.696+21G>ABenign01/31/2017 
33GLB1Ex5NM_000404.2:c.552+43C>GBenign** 
34GLB1Ex6NM_000404.2:c.591dupTPathogenic** 
35GLB1Ex6NM_000404.2:c.601C>Tp.Arg201Cys | p.R201CPathogenic** 
36GLB1Ex6NM_000404.2:c.602G>Ap.Arg201His | p.R201HNM_000404.2:c.602G>A, NM_001079811.1:c.512G>A, NM_001135602.1:c.341-4671G>A, XM_002342325.1:c.270+593C>T, XM_005265394.1:c.746G>A, XM_005265395.1:c.512G>A, XM_005265398.1:c.746G>A, XM_005265399.1:c.746G>APathogenic10/27/2014 
37GLB1Ex6NM_000404.2:c.622C>Tp.Arg208Cys | p.R208CNM_000404.2:c.622C>T, NM_001079811.1:c.532C>T, NM_001135602.1:c.341-4651C>T, XM_002342325.1:c.270+573G>A, XM_005265394.1:c.766C>T, XM_005265395.1:c.532C>T, XM_005265398.1:c.766C>T, XM_005265399.1:c.766C>TPathogenic12/06/2013 
38GLB1Ex6NM_000404.2:c.647T>Cp.Val216Ala | p.V216ANM_000404.2:c.647T>C, NM_001079811.1:c.557T>C, NM_001135602.1:c.341-4626T>C, XM_002342325.1:c.270+548A>G, XM_005265394.1:c.791T>C, XM_005265395.1:c.557T>C, XM_005265398.1:c.791T>C, XM_005265399.1:c.791T>CVOUS10/21/2015
39GLB1Ex6NM_000404.2:c.733+1G>APathogenic** 
40GLB1Ex7NM_000404.2:c.734-8A>GNM_000404.2:c.734-8A>G, NM_001079811.1:c.644-8A>G, NM_001135602.1:c.341-8A>G, XM_002342325.1:c.-1298T>C, XM_005265394.1:c.878-8A>G, XM_005265395.1:c.644-8A>G, XM_005265398.1:c.878-8A>G, XM_005265399.1:c.878-8A>GVOUS05/19/2014
41GLB1Ex7NM_000404.2:c.769_792+13del37VOUS**
42GLB1Ex7NM_000404.2:c.785G>Cp.Gly262Ala | p.G262AVOUS**
43GLB1Ex7NM_000404.2:c.792+10G>TNM_000404.2:c.792+10G>T, NM_001079811.1:c.702+10G>T, NM_001135602.1:c.399+10G>T, XM_002342325.1:c.-1374C>ABenign10/27/2015 
44GLB1Ex8NM_000404.2:c.808T>Gp.Tyr270Asp | p.Y270DNM_000404.2:c.808T>G, NM_001079811.1:c.718T>G, NM_001135602.1:c.415T>G, XM_002342325.1:c.-2866A>C, XM_005265394.1:c.952T>G, XM_005265395.1:c.718T>G, XM_005265398.1:c.952T>G, XM_005265399.1:c.952T>GPathogenic10/21/2015 
45GLB1Ex8NM_000404.2:c.809A>Cp.Tyr270Ser | p.Y270SNM_000404.2:c.809A>C, NM_001079811.1:c.719A>C, NM_001135602.1:c.416A>C, XM_002342325.1:c.-2867T>G, XM_005265394.1:c.953A>C, XM_005265395.1:c.719A>C, XM_005265398.1:c.953A>C, XM_005265399.1:c.953A>CVOUS10/27/2014
46GLB1Ex8NM_000404.2:c.809A>Gp.Tyr270Cys | p.Y270CNM_000404.2:c.809A>G, NM_001079811.1:c.719A>G, NM_001135602.1:c.416A>G, XM_002342325.1:c.-2867T>C, XM_005265394.1:c.953A>G, XM_005265395.1:c.719A>G, XM_005265398.1:c.953A>G, XM_005265399.1:c.953A>GLikely pathogenic04/12/2017 
47GLB1Ex8NM_000404.2:c.817T>Cp.Trp273Arg | p.W273RPathogenic** 
48GLB1Ex8NM_000404.2:c.818G>Tp.Trp273Leu | p.W273LPathogenic** 
49GLB1Ex8NM_000404.2:c.825T>Ap.Asp275Glu | p.D275EVOUS**
50GLB1Ex8NM_000404.2:c.827A>Cp.His276Pro | p.H276PVOUS**
51GLB1Ex8NM_000404.2:c.901G>Ap.Ala301Thr | p.A301TLikely pathogenic03/14/2014 
52GLB1Ex8NM_000404.2:c.902C>Tp.Ala301Val | p.A301VPathogenic** 
53GLB1Ex8NM_000404.2:c.914+4A>GVOUS**
54GLB1Ex9NM_000404.2:c.931G>Ap.Gly311Arg | p.G311RVOUS**
55GLB1Ex9NM_000404.2:c.955+5G>AVOUS**
56GLB1Ex10NM_000404.2:c.992A>Gp.Tyr331Cys | p.Y331CVOUS**
57GLB1Ex10NM_000404.2:c.1002T>Ap.Asp334Glu | p.D334EVOUS**
58GLB1Ex10NM_000404.2:c.1004C>Tp.Ala335Val | p.A335VLikely pathogenic10/22/2012 
59GLB1Ex10NM_000404.2:c.1051C>Tp.Arg351* | p.R351XNM_000404.2:c.1051C>T, NM_001079811.1:c.961C>T, NM_001135602.1:c.658C>T, XM_005265394.1:c.1195C>T, XM_005265395.1:c.961C>T, XM_005265398.1:c.1195C>T, XM_005265399.1:c.1195C>TPathogenic** 
60GLB1Ex10NM_000404.2:c.1068G>Ap.Lys356= | p.K356=NM_000404.2:c.1068G>A, NM_001079811.1:c.978G>A, NM_001135602.1:c.675G>A, XM_005265394.1:c.1212G>A, XM_005265395.1:c.978G>A, XM_005265398.1:c.1212G>A, XM_005265399.1:c.1212G>AVOUS01/28/2015
61GLB1Ex10NM_000404.2:c.1068+1G>TPathogenic** 
62GLB1Ex11NM_000404.2:c.1071T>Gp.Phe357Leu | p.F357LNM_000404.2:c.1071T>G, NM_001079811.1:c.981T>G, NM_001135602.1:c.678T>GVOUS12/19/2013
63GLB1Ex11NM_000404.2:c.1077delANM_000404.2:c.1077delA, NM_001079811.1:c.987delA, NM_001135602.1:c.684delAPathogenic12/19/2013 
64GLB1Ex11NM_000404.2:c.1143+47G>AVOUS**
65GLB1Ex12NM_000404.2:c.1174_1175delCTp.Leu392Valfs*64 | p.L392VfsX64NM_000404.2:c.1174_1175delCT, NM_001079811.1:c.1084_1085delCT, NM_001135602.1:c.781_782delCT, XM_005265394.1:c.1318_1319delCT, XM_005265395.1:c.1084_1085delCTPathogenic02/18/2013 
66GLB1Ex12NM_000404.2:c.1233+8T>CNM_000404.2:c.1233+8T>C, NM_001079811.1:c.1143+8T>C, NM_001135602.1:c.840+8T>CBenign10/27/2015 
67GLB1Ex13NM_000404.2:c.1295T>Cp.Leu432Pro | p.L432PVOUS**
68GLB1Ex13NM_000404.2:c.1306C>Tp.Leu436Phe | p.L436FNM_000404.2:c.1306C>T, NM_001079811.1:c.1216C>T, NM_001135602.1:c.913C>T, XM_005265394.1:c.1450C>T, XM_005265395.1:c.1216C>TBenign10/27/2015 
69GLB1Ex13NM_000404.2:c.1310A>Tp.Asn437Ile | p.N437INM_000404.2:c.1310A>T, NM_001079811.1:c.1220A>T, NM_001135602.1:c.917A>TLikely pathogenic12/10/2013 
70GLB1Ex13NM_000404.2:c.1321G>Ap.Asp441Asn | p.D441NPathogenic** 
71GLB1Ex13NM_000404.2:c.1325G>Ap.Arg442Gln | p.R442QNM_000404.2:c.1325G>A, NM_001079811.1:c.1235G>A, NM_001135602.1:c.932G>A, XM_005265394.1:c.1469G>A, XM_005265395.1:c.1235G>APathogenic** 
72GLB1Ex14NM_000404.2:c.1348-16G>ABenign** 
73GLB1Ex14NM_000404.2:c.1355dupAPathogenic** 
74GLB1Ex14NM_000404.2:c.1369C>TPathogenic** 
75GLB1Ex14NM_000404.2:c.1426C>Tp.Leu476= | p.L476=NM_000404.2:c.1426C>T, NM_001079811.1:c.1336C>T, NM_001135602.1:c.1033C>TVOUS06/24/2014
76GLB1Ex14NM_000404.2:c.1445G>Ap.Arg482His | p.R482HNM_000404.2:c.1445G>A, NM_001079811.1:c.1355G>A, NM_001135602.1:c.1052G>A, XM_005265394.1:c.1589G>A, XM_005265395.1:c.1355G>APathogenic03/14/2014 
77GLB1Ex14NM_000404.2:c.1452C>Gp.Asn484Lys | p.N484KNM_000404.2:c.1452C>G, NM_001079811.1:c.1362C>G, NM_001135602.1:c.1059C>G, XM_005265394.1:c.1596C>G, XM_005265395.1:c.1362C>GPathogenic** 
78GLB1Ex14NM_000404.2:c.1456_1466dupGGTGCATATATp.Ile489Metfs*15 | p.I489MfsX15NM_000404.2:c.1456_1466dupGGTGCATATAT, NM_001079811.1:c.1366_1376dupGGTGCATATAT, NM_001135602.1:c.1063_1073dupGGTGCATATAT, XM_005265394.1:c.1600_1610dupGGTGCATATAT, XM_005265395.1:c.1366_1376dupGGTGCATATATPathogenic10/18/2012 
79GLB1Ex14NM_000404.2:c.1468_1470delAACN490delVOUS**
80GLB1Ex14NM_000404.2:c.1479+1G>ANM_000404.2:c.1479+1G>A, NM_001079811.1:c.1389+1G>A, NM_001135602.1:c.1086+1G>A, XM_005265394.1:c.1623+1G>A, XM_005265395.1:c.1389+1G>APathogenic01/15/2018 
81GLB1Ex15NM_000404.2:c.1498A>Gp.Thr500Ala | p.T500ANM_000404.2:c.1498A>G, NM_001079811.1:c.1408A>G, NM_001135602.1:c.1105A>G, XM_005265394.1:c.1642A>G, XM_005265395.1:c.1408A>GPathogenic** 
82GLB1Ex15NM_000404.2:c.1561T>Cp.Cys521Arg | p.C521RNM_000404.2:c.1561T>C, NM_001079811.1:c.1471T>C, NM_001135602.1:c.1168T>CBenign08/31/2017 
83GLB1Ex15NM_000404.2:c.1577G>Ap.Gly526Asp | p.G526DVOUS**
84GLB1Ex15NM_000404.2:c.1577dupGPathogenic** 
85GLB1Ex15NM_000404.2:c.1594A>Gp.Ser532Gly | p.S532GNM_000404.2:c.1594A>G, NM_001079811.1:c.1504A>G, NM_001135602.1:c.1201A>G, XM_005265394.1:c.1738A>G, XM_005265395.1:c.1504A>GBenign07/13/2018 
86GLB1Ex15NM_000404.2:c.1646C>Tp.Pro549Leu | p.P549LPathogenic** 
87GLB1Ex15NM_000404.2:c.1706C>Tp.Thr569Ile | p.T569IVOUS**
88GLB1Ex15NM_000404.2:c.1715A>Gp.Gln572Arg | p.Q572RVOUS**
89GLB1Ex15NM_000404.2:c.1724G>Tp.Gly575Val | p.G575VVOUS**
90GLB1Ex15NM_000404.2:c.1725A>Gp.Gly575= | p.G575=VOUS**
91GLB1Ex15NM_000404.2:c.1733A>Cp.Lys578Arg | p.K578RVOUS**
92GLB1Ex15NM_000404.2:c.1733A>Gp.Lys578Arg | p.K578RPathogenic** 
93GLB1Ex16NM_000404.2:c.1768C>Tp.Arg590Cys | p.R590CNM_000404.2:c.1768C>T, NM_001079811.1:c.1678C>T, NM_001135602.1:c.1375C>T, XM_005265394.1:c.1912C>T, XM_005265395.1:c.1678C>TPathogenic06/25/2014 
94GLB1Ex16NM_000404.2:c.1769G>Ap.Arg590His | p.R590HNM_000404.2:c.1769G>A, NM_001079811.1:c.1679G>A, NM_001135602.1:c.1376G>APathogenic02/28/2019 
95GLB1Ex16NM_000404.2:c.1772A>Gp.Tyr591Cys | p.Y591CNM_000404.2:c.1772A>G, NM_001079811.1:c.1682A>G, NM_001135602.1:c.1379A>G, XM_005265394.1:c.1916A>G, XM_005265395.1:c.1682A>GPathogenic** 
96GLB1Ex16NM_000404.2:c.1824G>Cp.Leu608= | p.L608=NM_000404.2:c.1824G>C, NM_001079811.1:c.1734G>C, NM_001135602.1:c.1431G>CBenign09/04/2013 
97GLB1Ex16NM_000404.2:c.1918G>Tp.Asp640Tyr | p.D640YNM_000404.2:c.1918G>T, NM_001079811.1:c.1828G>T, NM_001135602.1:c.1525G>TVOUS09/10/2013

* 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.