Loading Data . . .

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  
1POMT2Ex1NM_013382.5:c.-7G>ANM_001513.3:c.-1212C>T, NM_013382.5:c.-7G>A, NM_145870.2:c.-481C>T, NM_145871.2:c.-481C>T, XM_005267557.1:c.-3917C>T, XM_005267558.1:c.-3917C>T, XM_005267559.1:c.-832C>TVOUS01/14/2016
2POMT2Ex1NM_013382.5:c.47C>Gp.Pro16Arg | p.P16RLRG_844t1:c.47C>G, NM_001513.3:c.-1265G>C, NM_013382.5:c.47C>G, NM_145870.2:c.-534G>C, NM_145871.2:c.-534G>C, XM_005267557.1:c.-3970G>C, XM_005267558.1:c.-3970G>C, XM_005267559.1:c.-885G>CVOUS05/25/2017
3POMT2Ex1NM_013382.5:c.50G>Cp.Arg17Pro | p.R17PLRG_844t1:c.50G>C, NM_001513.3:c.-1268C>G, NM_013382.5:c.50G>C, NM_145870.2:c.-537C>G, NM_145871.2:c.-537C>G, XM_005267557.1:c.-3973C>G, XM_005267558.1:c.-3973C>G, XM_005267559.1:c.-888C>GVOUS11/07/2017
4POMT2Ex1NM_013382.5:c.66C>Tp.Gly22= | p.G22=LRG_844t1:c.66C>T, NM_001513.3:c.-1284G>A, NM_013382.5:c.66C>T, NM_145870.2:c.-553G>A, NM_145871.2:c.-553G>A, XM_005267557.1:c.-3989G>A, XM_005267558.1:c.-3989G>A, XM_005267559.1:c.-904G>AVOUS09/14/2018
5POMT2Ex1NM_013382.5:c.84C>Tp.Ala28= | p.A28=LRG_844t1:c.84C>T, NM_001513.3:c.-1302G>A, NM_013382.5:c.84C>T, NM_145870.2:c.-571G>A, NM_145871.2:c.-571G>A, XM_005267557.1:c.-4007G>A, XM_005267558.1:c.-4007G>A, XM_005267559.1:c.-922G>AVOUS08/08/2016
6POMT2Ex1NM_013382.5:c.87A>Tp.Ala29= | p.A29=NM_001513.3:c.-1305T>A, NM_013382.5:c.87A>T, NM_145870.2:c.-574T>A, NM_145871.2:c.-574T>A, XM_005267557.1:c.-4010T>A, XM_005267558.1:c.-4010T>A, XM_005267559.1:c.-925T>AVOUS11/03/2014
7POMT2Ex1NM_013382.5:c.102C>Gp.Ala34= | p.A34=LRG_844t1:c.102C>G, NM_001513.3:c.-1320G>C, NM_013382.5:c.102C>G, NM_145870.2:c.-589G>C, NM_145871.2:c.-589G>C, XM_005267557.1:c.-4025G>C, XM_005267558.1:c.-4025G>C, XM_005267559.1:c.-940G>CVOUS08/16/2016
8POMT2Ex1NM_013382.5:c.106G>Cp.Glu36Gln | p.E36QLRG_844t1:c.106G>C, NM_001513.3:c.-1324C>G, NM_013382.5:c.106G>C, NM_145870.2:c.-593C>G, NM_145871.2:c.-593C>G, XM_005267557.1:c.-4029C>G, XM_005267558.1:c.-4029C>G, XM_005267559.1:c.-944C>GVOUS09/19/2017
9POMT2Ex1NM_013382.5:c.124C>Tp.Pro42Ser | p.P42SLRG_844t1:c.124C>T, NM_001513.3:c.-1342G>A, NM_013382.5:c.124C>T, NM_145870.2:c.-611G>A, NM_145871.2:c.-611G>A, XM_005267557.1:c.-4047G>A, XM_005267558.1:c.-4047G>A, XM_005267559.1:c.-962G>AVOUS06/01/2018
10POMT2Ex1NM_013382.5:c.128A>Gp.Lys43Arg | p.K43RLRG_844t1:c.128A>G, NM_001513.3:c.-1346T>C, NM_013382.5:c.128A>G, NM_145870.2:c.-615T>C, NM_145871.2:c.-615T>C, XM_005267557.1:c.-4051T>C, XM_005267558.1:c.-4051T>C, XM_005267559.1:c.-966T>CVOUS12/28/2016
11POMT2Ex1NM_013382.5:c.161C>Ap.Ala54Glu | p.A54ENM_001513.3:c.-1379G>T, NM_013382.5:c.161C>A, NM_145870.2:c.-648G>T, NM_145871.2:c.-648G>TBenign12/13/2013 
12POMT2Ex1NM_013382.5:c.162G>Tp.Ala54= | p.A54=NM_001513.3:c.-1380C>A, NM_013382.5:c.162G>T, NM_145870.2:c.-649C>A, NM_145871.2:c.-649C>ABenign10/25/2012 
13POMT2Ex1NM_013382.5:c.169T>Gp.Trp57Gly | p.W57GLRG_844t1:c.169T>G, NM_001513.3:c.-1387A>C, NM_013382.5:c.169T>G, NM_145870.2:c.-656A>C, NM_145871.2:c.-656A>C, XM_005267557.1:c.-4092A>C, XM_005267558.1:c.-4092A>C, XM_005267559.1:c.-1007A>CVOUS04/16/2018
14POMT2Ex1NM_013382.5:c.224G>Cp.Arg75Pro | p.R75PLRG_844t1:c.224G>C, NM_001513.3:c.-1442C>G, NM_013382.5:c.224G>C, NM_145870.2:c.-711C>G, NM_145871.2:c.-711C>G, XM_005267557.1:c.-4147C>G, XM_005267558.1:c.-4147C>G, XM_005267559.1:c.-1062C>GVOUS05/04/2017
15POMT2Ex1NM_013382.5:c.229G>Ap.Asp77Asn | p.D77NLRG_844t1:c.229G>A, NM_001513.3:c.-1447C>T, NM_013382.5:c.229G>A, NM_145870.2:c.-716C>T, NM_145871.2:c.-716C>T, XM_005267557.1:c.-4152C>T, XM_005267558.1:c.-4152C>T, XM_005267559.1:c.-1067C>TVOUS06/20/2017
16POMT2Ex1NM_013382.5:c.232G>Cp.Glu78Gln | p.E78QLRG_844t1:c.232G>C, NM_001513.3:c.-1450C>G, NM_013382.5:c.232G>C, NM_145870.2:c.-719C>G, NM_145871.2:c.-719C>GVOUS11/10/2017
17POMT2Ex1NM_013382.5:c.248+2T>CLRG_844t1:c.248+2T>C, NM_001513.3:c.-1468A>G, NM_013382.5:c.248+2T>C, NM_145870.2:c.-737A>G, NM_145871.2:c.-737A>G, XM_005267557.1:c.-4173A>G, XM_005267558.1:c.-4173A>G, XM_005267559.1:c.-1088A>GPathogenic05/05/2017 
18POMT2Ex2NM_013382.5:c.293A>Gp.Asn98Ser | p.N98SLRG_844t1:c.293A>G, NM_013382.5:c.293A>GVOUS03/07/2017
19POMT2Ex2NM_013382.5:c.293A>Cp.Asn98Thr | p.N98TLRG_844t1:c.293A>C, NM_013382.5:c.293A>CVOUS04/13/2017
20POMT2Ex2NM_013382.5:c.295C>Tp.Arg99Cys | p.R99CLRG_844t1:c.295C>T, NM_013382.5:c.295C>TVOUS11/30/2015
21POMT2Ex2NM_013382.5:c.317A>Cp.His106Pro | p.H106PLRG_844t1:c.317A>C, NM_013382.5:c.317A>CArtifact01/18/2017 
22POMT2Ex2NM_013382.5:c.320C>Tp.Pro107Leu | p.P107LNM_013382.5:c.320C>TVOUS11/06/2013
23POMT2Ex2NM_013382.5:c.321G>Ap.Pro107= | p.P107=NM_013382.5:c.321G>AVOUS02/09/2016
24POMT2Ex3NM_013382.5:c.334-45T>CBenign** 
25POMT2Ex4NM_013382.5:c.542C>Ap.Thr181Asn | p.T181NLRG_844t1:c.542C>A, NM_013382.5:c.542C>AVOUS10/25/2017
26POMT2Ex5NM_013382.5:c.551C>Tp.Thr184Met | p.T184MLRG_844t1:c.551C>T, NM_013382.5:c.551C>TPathogenic05/15/2017 
27POMT2Ex5NM_013382.5:c.559C>Tp.Leu187Phe | p.L187FLRG_844t1:c.559C>T, NM_013382.5:c.559C>TVOUS02/01/2017
28POMT2Ex5NM_013382.5:c.593T>Ap.Ile198Asn | p.I198NLRG_844t1:c.593T>A, NM_013382.5:c.593T>AVOUS03/23/2018
29POMT2Ex5NM_013382.5:c.613G>Ap.Ala205Thr | p.A205TLRG_844t1:c.613G>A, NM_013382.5:c.613G>AVOUS05/24/2016
30POMT2Ex5NM_013382.5:c.621G>Ap.Met207Ile | p.M207ILRG_844t1:c.621G>A, NM_013382.5:c.621G>AVOUS10/05/2017
31POMT2Ex5NM_013382.5:c.639C>Ap.Tyr213* | p.Y213XLRG_844t1:c.639C>A, NM_013382.5:c.639C>APathogenic02/28/2017 
32POMT2Ex5NM_013382.5:c.643T>Cp.Ser215Pro | p.S215PLRG_844t1:c.643T>C, NM_013382.5:c.643T>CVOUS05/21/2015
33POMT2Ex5NM_013382.5:c.648C>Tp.Cys216= | p.C216=LRG_844t1:c.648C>T, NM_013382.5:c.648C>TVOUS12/07/2018
34POMT2Ex5NM_013382.5:c.649G>Ap.Ala217Thr | p.A217TLRG_844t1:c.649G>A, NM_013382.5:c.649G>AVOUS04/20/2017
35POMT2Ex5NM_013382.5:c.651C>Tp.Ala217= | p.A217=LRG_844t1:c.651C>T, NM_013382.5:c.651C>TVOUS07/08/2016
36POMT2Ex5NM_013382.5:c.652G>Ap.Asp218Asn | p.D218NNM_013382.5:c.652G>ABenign02/12/2015 
37POMT2Ex5NM_013382.5:c.656+3C>GLRG_844t1:c.656+3C>G, NM_013382.5:c.656+3C>GVOUS03/20/2018
38POMT2Ex6NM_013382.5:c.659C>Tp.Pro220Leu | p.P220LLRG_844t1:c.659C>T, NM_013382.5:c.659C>TVOUS05/11/2017
39POMT2Ex6NM_013382.5:c.662T>Ap.Phe221Tyr | p.F221YLRG_844t1:c.662T>A, NM_013382.5:c.662T>AVOUS06/09/2016
40POMT2Ex6NM_013382.5:c.665C>Gp.Ser222Cys | p.S222CLRG_844t1:c.665C>G, NM_013382.5:c.665C>GVOUS01/11/2018
41POMT2Ex6NM_013382.5:c.671C>Gp.Pro224Arg | p.P224RLRG_844t1:c.671C>G, NM_013382.5:c.671C>GVOUS08/22/2017
42POMT2Ex6NM_013382.5:c.672delCp.Trp225Glyfs*7 | p.W225GfsX7LRG_844t1:c.672delC, NM_013382.5:c.672delCPathogenic02/01/2018 
43POMT2Ex6NM_013382.5:c.700G>Ap.Val234Ile | p.V234ILRG_844t1:c.700G>A, NM_013382.5:c.700G>AVOUS05/04/2017
44POMT2Ex6NM_013382.5:c.795C>Gp.Phe265Leu | p.F265LLRG_844t1:c.795C>G, NM_013382.5:c.795C>GVOUS11/11/2016
45POMT2Ex6NM_013382.5:c.795C>Tp.Phe265= | p.F265=LRG_844t1:c.795C>T, NM_013382.5:c.795C>TVOUS06/09/2016
46POMT2Ex6NM_013382.5:c.806G>Ap.Ser269Asn | p.S269NLRG_844t1:c.806G>A, NM_013382.5:c.806G>AVOUS07/14/2017
47POMT2Ex7NM_013382.5:c.825G>Ap.Val275= | p.V275=LRG_844t1:c.825G>A, NM_013382.5:c.825G>AVOUS07/08/2016
48POMT2Ex7NM_013382.5:c.829A>Gp.Lys277Glu | p.K277ELRG_844t1:c.829A>G, NM_013382.5:c.829A>GVOUS11/09/2017
49POMT2Ex7NM_013382.5:c.844C>Tp.Arg282Cys | p.R282CLRG_844t1:c.844C>T, NM_013382.5:c.844C>TVOUS01/05/2016
50POMT2Ex7NM_013382.5:c.845G>Ap.Arg282His | p.R282HLRG_844t1:c.845G>A, NM_013382.5:c.845G>AVOUS07/19/2018
51POMT2Ex7NM_013382.5:c.856C>Tp.Leu286Phe | p.L286FLRG_844t1:c.856C>T, NM_013382.5:c.856C>TVOUS05/03/2017
52POMT2Ex7NM_013382.5:c.884C>Tp.Thr295Ile | p.T295INM_013382.5:c.884C>TVOUS04/30/2015
53POMT2Ex7NM_013382.5:c.890C>Tp.Thr297Ile | p.T297INM_013382.5:c.890C>TVOUS11/06/2014
54POMT2Ex7NM_013382.5:c.891C>Ap.Thr297= | p.T297=NM_013382.5:c.891C>AVOUS01/05/2015
55POMT2Ex8NM_013382.5:c.924-10C>TBenign10/17/2012 
56POMT2Ex8NM_013382.5:c.924-2A>GLRG_844t1:c.924-2A>G, NM_013382.5:c.924-2A>GPathogenic08/11/2016 
57POMT2Ex8NM_013382.5:c.958C>Tp.Gln320* | p.Q320XLRG_844t1:c.958C>T, NM_013382.5:c.958C>TPathogenic07/27/2016 
58POMT2Ex8NM_013382.5:c.964C>Gp.Arg322Gly | p.R322GLRG_844t1:c.964C>G, NM_013382.5:c.964C>GVOUS02/01/2017
59POMT2Ex8NM_013382.5:c.1006C>Tp.His336Tyr | p.H336YLRG_844t1:c.1006C>T, NM_013382.5:c.1006C>TVOUS07/22/2016
60POMT2Ex8NM_013382.5:c.1006+1G>ANM_013382.5:c.1006+1G>APathogenic12/10/2015 
61POMT2Ex8NM_013382.5:c.1006+5G>ALRG_844t1:c.1006+5G>A, NM_013382.5:c.1006+5G>AVOUS03/29/2016
62POMT2Ex9NM_013382.5:c.1007-32G>ALRG_844t1:c.1007-32G>A, NM_013382.5:c.1007-32G>ABenign11/29/2016 
63POMT2Ex9NM_013382.5:c.1017C>Tp.Tyr339= | p.Y339=LRG_844t1:c.1017C>T, NM_013382.5:c.1017C>TVOUS01/23/2017
64POMT2Ex9NM_013382.5:c.1033G>Cp.Val345Leu | p.V345LNM_013382.5:c.1033G>CVOUS01/13/2016
65POMT2Ex9NM_013382.5:c.1042C>Gp.Leu348Val | p.L348VVOUS**
66POMT2Ex9NM_013382.5:c.1045_1052delinsGNM_013382.5:c.1045_1052delinsGPathogenic02/10/2016 
67POMT2Ex9NM_013382.5:c.1045C>Tp.Arg349Trp | p.R349WLRG_844t1:c.1045C>T, NM_013382.5:c.1045C>TVOUS12/22/2017
68POMT2Ex9NM_013382.5:c.1046G>Ap.Arg349Gln | p.R349QLRG_844t1:c.1046G>A, NM_013382.5:c.1046G>AVOUS07/29/2016
69POMT2Ex9NM_013382.5:c.1080C>Tp.His360= | p.H360=LRG_844t1:c.1080C>T, NM_013382.5:c.1080C>TVOUS08/16/2016
70POMT2Ex9NM_013382.5:c.1094G>Ap.Gly365Asp | p.G365DLRG_844t1:c.1094G>A, NM_013382.5:c.1094G>AVOUS03/27/2018
71POMT2Ex9NM_013382.5:c.1106G>Ap.Arg369His | p.R369HNM_013382.5:c.1106G>AVOUS02/05/2015
72POMT2Ex9NM_013382.5:c.1116+4A>GLRG_844t1:c.1116+4A>G, NM_013382.5:c.1116+4A>GVOUS06/01/2016
73POMT2Ex9NM_013382.5:c.1116+35A>GBenign** 
74POMT2Ex10NM_013382.5:c.1117-20C>TNM_013382.5:c.1117-20C>TBenign07/18/2012 
75POMT2Ex10NM_013382.5:c.1117-7C>GLRG_844t1:c.1117-7C>G, NM_013382.5:c.1117-7C>GVOUS07/25/2016
76POMT2Ex10NM_013382.5:c.1123_1124dupACLRG_844t1:c.1124_1125insAC, NM_013382.5:c.1124_1125insACPathogenic11/23/2016 
77POMT2Ex10NM_013382.5:c.1141T>Cp.Tyr381His | p.Y381HLRG_844t1:c.1141T>C, NM_013382.5:c.1141T>CVOUS01/30/2017
78POMT2Ex10NM_013382.5:c.1183+14A>GBenign** 
79POMT2Ex11NM_013382.5:c.1184-47A>CBenign** 
80POMT2Ex11NM_013382.5:c.1192G>Cp.Asp398His | p.D398HLRG_844t1:c.1192G>C, NM_013382.5:c.1192G>CVOUS07/27/2016
81POMT2Ex11NM_013382.5:c.1206A>Cp.Pro402= | p.P402=LRG_844t1:c.1206A>C, NM_013382.5:c.1206A>CVOUS05/24/2017
82POMT2Ex11NM_013382.5:c.1215T>Gp.Phe405Leu | p.F405LLRG_844t1:c.1215T>G, NM_013382.5:c.1215T>GVOUS09/20/2018
83POMT2Ex11NM_013382.5:c.1229A>Tp.Asp410Val | p.D410VNM_013382.5:c.1229A>TVOUS01/25/2016
84POMT2Ex11NM_013382.5:c.1238G>Cp.Arg413Pro | p.R413PLRG_844t1:c.1238G>C, NM_013382.5:c.1238G>CVOUS04/13/2017
85POMT2Ex12NM_013382.5:c.1261C>Tp.Arg421Trp | p.R421WLRG_844t1:c.1261C>T, NM_013382.5:c.1261C>TPathogenic02/14/2018 
86POMT2Ex12NM_013382.5:c.1262G>Ap.Arg421Gln | p.R421QLRG_844t1:c.1262G>A, NM_013382.5:c.1262G>ABenign05/23/2014 
87POMT2Ex12NM_013382.5:c.1290C>Tp.Ala430= | p.A430=LRG_844t1:c.1290C>T, NM_013382.5:c.1290C>TVOUS06/14/2016
88POMT2Ex12NM_013382.5:c.1306C>Tp.His436Tyr | p.H436YLRG_844t1:c.1306C>T, NM_013382.5:c.1306C>TVOUS06/27/2016
89POMT2Ex12NM_013382.5:c.1321G>Ap.Gly441Ser | p.G441SLRG_844t1:c.1321G>A, NM_013382.5:c.1321G>AVOUS06/13/2017
90POMT2Ex12NM_013382.5:c.1332+6_1332+9delTAAGLRG_844t1:c.1332+6_1332+9delTAAG, NM_013382.5:c.1332+6_1332+9delTAAGVOUS02/28/2018
91POMT2Ex13NM_013382.5:c.1363C>Tp.Arg455Trp | p.R455WNM_013382.5:c.1363C>TVOUS10/18/2013
92POMT2Ex13NM_013382.5:c.1383G>Ap.Arg461= | p.R461=NM_013382.5:c.1383G>ABenign06/11/2013 
93POMT2Ex13NM_013382.5:c.1386A>Cp.Lys462Asn | p.K462NLRG_844t1:c.1386A>C, NM_013382.5:c.1386A>CVOUS11/29/2017
94POMT2Ex13NM_013382.5:c.1396C>Ap.Arg466= | p.R466=NM_013382.5:c.1396C>AVOUS02/12/2016
95POMT2Ex13NM_013382.5:c.1404A>Gp.Lys468= | p.K468=LRG_844t1:c.1404A>G, NM_013382.5:c.1404A>GVOUS10/27/2017
96POMT2Ex13NM_013382.5:c.1407G>Tp.Val469= | p.V469=NM_013382.5:c.1407G>TVOUS09/27/2015
97POMT2Ex13NM_013382.5:c.1417C>Tp.Arg473* | p.R473XNM_013382.5:c.1417C>TPathogenic06/11/2013 
98POMT2Ex13NM_013382.5:c.1478C>Tp.Pro493Leu | p.P493LVOUS02/17/2014
99POMT2Ex14NM_013382.5:c.1485-4A>CNM_013382.5:c.1485-4A>CVOUS11/14/2014
100POMT2Ex14NM_013382.5:c.1485-3C>TLRG_844t1:c.1485-3C>T, NM_013382.5:c.1485-3C>TVOUS08/10/2018
101POMT2Ex14NM_013382.5:c.1537A>Gp.Asn513Asp | p.N513DNM_013382.5:c.1537A>GLikely benign01/19/2016 
102POMT2Ex14NM_013382.5:c.1558G>Ap.Asp520Asn | p.D520NLRG_844t1:c.1558G>A, NM_013382.5:c.1558G>AVOUS06/06/2016
103POMT2Ex14NM_013382.5:c.1568A>Cp.Asn523Thr | p.N523TNM_013382.5:c.1568A>CVOUS08/05/2015
104POMT2Ex15NM_013382.5:c.1593G>Ap.Leu531= | p.L531=LRG_844t1:c.1593G>A, NM_013382.5:c.1593G>ALikely benign07/26/2016 
105POMT2Ex15NM_013382.5:c.1604A>Tp.Gln535Leu | p.Q535LLRG_844t1:c.1604A>T, NM_013382.5:c.1604A>TVOUS05/30/2019
106POMT2Ex15NM_013382.5:c.1620G>Ap.Glu540= | p.E540=NM_013382.5:c.1620G>AVOUS01/29/2016
107POMT2Ex15NM_013382.5:c.1651C>Tp.Arg551Trp | p.R551WLRG_844t1:c.1651C>T, NM_013382.5:c.1651C>TVOUS03/03/2017
108POMT2Ex16NM_013382.5:c.1654-41G>CBenign** 
109POMT2Ex16NM_013382.5:c.1654-8T>GLRG_844t1:c.1654-8T>G, NM_013382.5:c.1654-8T>GVOUS11/14/2017
110POMT2Ex16NM_013382.5:c.1654-6A>GLRG_844t1:c.1654-6A>G, NM_013382.5:c.1654-6A>GBenign07/18/2012 
111POMT2Ex16NM_013382.5:c.1658dupANM_013382.5:c.1658_1659insAPathogenic01/19/2016 
112POMT2Ex16NM_013382.5:c.1683T>Cp.Asn561= | p.N561=NM_013382.5:c.1683T>CBenign10/23/2015 
113POMT2Ex16NM_013382.5:c.1691C>Tp.Thr564Met | p.T564MLRG_844t1:c.1691C>T, NM_013382.5:c.1691C>TVOUS03/21/2017
114POMT2Ex16NM_013382.5:c.1699C>Tp.Pro567Ser | p.P567SNM_013382.5:c.1699C>TVOUS08/17/2015
115POMT2Ex16NM_013382.5:c.1701C>Gp.Pro567= | p.P567=LRG_844t1:c.1701C>G, NM_013382.5:c.1701C>GVOUS06/11/2018
116POMT2Ex16NM_013382.5:c.1711C>Tp.Pro571Ser | p.P571SNM_013382.5:c.1711C>TVOUS10/30/2015
117POMT2Ex17NM_013382.5:c.1726-9A>GNM_013382.5:c.1726-9A>GVOUS10/27/2015
118POMT2Ex17NM_013382.5:c.1726-9A>TLRG_844t1:c.1726-9A>T, NM_013382.5:c.1726-9A>TVOUS08/04/2016
119POMT2Ex17NM_013382.5:c.1726-2A>GPathogenic02/17/2014 
120POMT2Ex17NM_013382.5:c.1732C>Tp.Arg578Cys | p.R578CLRG_844t1:c.1732C>T, NM_013382.5:c.1732C>TVOUS11/20/2018
121POMT2Ex17NM_013382.5:c.1743G>Ap.Gly581= | p.G581=NM_013382.5:c.1743G>AVOUS08/28/2015
122POMT2Ex17NM_013382.5:c.1757A>Gp.Asp586Gly | p.D586GLRG_844t1:c.1757A>G, NM_013382.5:c.1757A>GVOUS07/19/2018
123POMT2Ex17NM_013382.5:c.1785G>Ap.Pro595= | p.P595=LRG_844t1:c.1785G>A, NM_013382.5:c.1785G>AVOUS05/07/2018
124POMT2Ex17NM_013382.5:c.1785G>Cp.Pro595= | p.P595=LRG_844t1:c.1785G>C, NM_013382.5:c.1785G>CVOUS10/01/2016
125POMT2Ex18NM_013382.5:c.1786-39C>TBenign** 
126POMT2Ex18NM_013382.5:c.1786-8C>TLRG_844t1:c.1786-8C>T, NM_013382.5:c.1786-8C>TVOUS07/03/2018
127POMT2Ex18NM_013382.5:c.1805T>Cp.Leu602Pro | p.L602PLRG_844t1:c.1805T>C, NM_013382.5:c.1805T>CVOUS05/08/2018
128POMT2Ex18NM_013382.5:c.1824C>Tp.Tyr608= | p.Y608=LRG_844t1:c.1824C>T, NM_013382.5:c.1824C>TVOUS06/30/2016
129POMT2Ex18NM_013382.5:c.1828C>Tp.Leu610Phe | p.L610FLRG_844t1:c.1828C>T, NM_013382.5:c.1828C>TVOUS11/30/2018
130POMT2Ex18NM_013382.5:c.1835G>Tp.Gly612Val | p.G612VLRG_844t1:c.1835G>T, NM_013382.5:c.1835G>TVOUS08/11/2016
131POMT2Ex18NM_013382.5:c.1870C>Tp.Arg624Trp | p.R624WLRG_844t1:c.1870C>T, NM_013382.5:c.1870C>TVOUS05/22/2018
132POMT2Ex18NM_013382.5:c.1871G>Ap.Arg624Gln | p.R624QLRG_844t1:c.1871G>A, NM_013382.5:c.1871G>AVOUS11/28/2016
133POMT2Ex18NM_013382.5:c.1877C>Tp.Pro626Leu | p.P626LLRG_844t1:c.1877C>T, NM_013382.5:c.1877C>TVOUS01/06/2017
134POMT2Ex18NM_013382.5:c.1881G>Ap.Ala627= | p.A627=NM_013382.5:c.1881G>ABenign11/14/2014 
135POMT2Ex18NM_013382.5:c.1891+49C>TLRG_844t1:c.1891+49C>T, NM_013382.5:c.1891+49C>TBenign02/01/2017 
136POMT2Ex19NM_013382.5:c.1895T>Cp.Leu632Ser | p.L632SNM_013382.5:c.1895T>CVOUS06/05/2013
137POMT2Ex19NM_013382.5:c.1903G>Ap.Val635Ile | p.V635ILRG_844t1:c.1903G>A, NM_013382.5:c.1903G>AVOUS04/18/2018
138POMT2Ex19NM_013382.5:c.1911T>Gp.Leu637= | p.L637=LRG_844t1:c.1911T>G, NM_013382.5:c.1911T>GBenign06/05/2013 
139POMT2Ex19NM_013382.5:c.1912C>Tp.Arg638* | p.R638XNM_013382.5:c.1912C>TPathogenic10/30/2015 
140POMT2Ex19NM_013382.5:c.1920C>Tp.Gly640= | p.G640=LRG_844t1:c.1920C>T, NM_013382.5:c.1920C>TVOUS07/29/2015
141POMT2Ex19NM_013382.5:c.1935C>Tp.Leu645= | p.L645=LRG_844t1:c.1935C>T, NM_013382.5:c.1935C>TVOUS08/01/2017
142POMT2Ex19NM_013382.5:c.1958C>Tp.Pro653Leu | p.P653LLRG_844t1:c.1958C>T, NM_013382.5:c.1958C>TVOUS05/21/2015
143POMT2Ex19NM_013382.5:c.1977G>Cp.Arg659= | p.R659=NM_013382.5:c.1977G>CVOUS09/22/2015
144POMT2Ex19NM_013382.5:c.1997A>Gp.Tyr666Cys | p.Y666CLRG_844t1:c.1997A>G, NM_013382.5:c.1997A>GPathogenic01/15/2017 
145POMT2Ex20NM_013382.5:c.2057G>Ap.Arg686Gln | p.R686QLRG_844t1:c.2057G>A, NM_013382.5:c.2057G>ALikely benign08/04/2016 
146POMT2Ex20NM_013382.5:c.2072G>Tp.Gly691Val | p.G691VNM_013382.5:c.2072G>TVOUS07/30/2015
147POMT2Ex20NM_013382.5:c.2083T>Cp.Trp695Arg | p.W695RLRG_844t1:c.2083T>C, NM_013382.5:c.2083T>CVOUS03/17/2016
148POMT2Ex20NM_013382.5:c.2085G>Tp.Trp695Cys | p.W695CNM_013382.5:c.2085G>TVOUS07/24/2013
149POMT2Ex20NM_013382.5:c.2086C>Tp.Pro696Ser | p.P696SNM_013382.5:c.2086C>TVOUS07/24/2013
150POMT2Ex20NM_013382.5:c.2086C>Ap.Pro696Thr | p.P696TLRG_844t1:c.2086C>A, NM_013382.5:c.2086C>AVOUS10/13/2015
151POMT2Ex20NM_013382.5:c.2092G>Cp.Ala698Pro | p.A698PLRG_844t1:c.2092G>C, NM_013382.5:c.2092G>CVOUS05/24/2017
152POMT2Ex20NM_013382.5:c.2107G>Cp.Val703Leu | p.V703LLRG_844t1:c.2107G>C, NM_013382.5:c.2107G>CVOUS02/28/2017
153POMT2Ex20NM_013382.5:c.2147+2T>GLRG_844t1:c.2147+2T>G, NM_013382.5:c.2147+2T>GVOUS04/12/2017
154POMT2Ex20NM_013382.5:c.2147+9C>TLRG_844t1:c.2147+9C>T, NM_013382.5:c.2147+9C>TVOUS04/27/2017
155POMT2Ex21NM_013382.5:c.2148-18A>GVOUS**
156POMT2Ex21NM_013382.5:c.2197C>Tp.Gln733* | p.Q733XLRG_844t1:c.2197C>T, NM_013382.5:c.2197C>TLikely pathogenic05/11/2017 
157POMT2Ex21NM_013382.5:c.2197delCp.Gln733Argfs*10 | p.Q733RfsX10LRG_844t1:c.2197delC, NM_013382.5:c.2197delCVOUS01/10/2017
158POMT2Ex21NM_013382.5:c.2223A>Gp.Gly741= | p.G741=LRG_844t1:c.2223A>G, NM_013382.5:c.2223A>GVOUS09/23/2015

* 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.