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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  
1FKTNEx3NM_001079802.1:c.-7C>GLRG_434t1:c.-7C>G, LRG_434t2:c.-7C>G, NM_001079802.1:c.-7C>G, NM_001198963.1:c.-7C>G, NM_006731.2:c.-7C>G, XM_005251803.1:c.-7C>G, XM_005251804.1:c.-7C>G, XM_005251805.1:c.-7C>G, XM_005251806.1:c.-7C>GVOUS06/05/2017
2FKTNEx3NM_001079802.1:c.21C>Tp.Asn7= | p.N7=LRG_434t1:c.21C>T, LRG_434t2:c.21C>T, NM_001079802.1:c.21C>T, NM_001198963.1:c.21C>T, NM_006731.2:c.21C>T, XM_005251803.1:c.21C>T, XM_005251804.1:c.21C>T, XM_005251805.1:c.21C>T, XM_005251806.1:c.21C>TVOUS03/16/2016
3FKTNEx3NM_001079802.1:c.25G>Tp.Val9Phe | p.V9FLRG_434t1:c.25G>T, LRG_434t2:c.25G>T, NM_001079802.1:c.25G>T, NM_001198963.1:c.25G>T, NM_006731.2:c.25G>T, XM_005251803.1:c.25G>T, XM_005251804.1:c.25G>T, XM_005251805.1:c.25G>T, XM_005251806.1:c.25G>TVOUS08/31/2018
4FKTNEx3NM_001079802.1:c.30G>Ap.Leu10= | p.L10=LRG_434t1:c.30G>A, LRG_434t2:c.30G>A, NM_001079802.1:c.30G>A, NM_001198963.1:c.30G>A, NM_006731.2:c.30G>A, XM_005251803.1:c.30G>A, XM_005251804.1:c.30G>A, XM_005251805.1:c.30G>A, XM_005251806.1:c.30G>AVOUS03/23/2018
5FKTNEx3NM_001079802.1:c.41C>Tp.Thr14Met | p.T14MLRG_434t1:c.41C>T, LRG_434t2:c.41C>T, NM_001079802.1:c.41C>T, NM_001198963.1:c.41C>T, NM_006731.2:c.41C>T, XM_005251803.1:c.41C>T, XM_005251804.1:c.41C>T, XM_005251805.1:c.41C>T, XM_005251806.1:c.41C>TVOUS07/27/2018
6FKTNEx3NM_001079802.1:c.42G>Ap.Thr14= | p.T14=LRG_434t1:c.42G>A, LRG_434t2:c.42G>A, NM_001079802.1:c.42G>A, NM_001198963.1:c.42G>A, NM_006731.2:c.42G>A, XM_005251803.1:c.42G>A, XM_005251804.1:c.42G>A, XM_005251805.1:c.42G>A, XM_005251806.1:c.42G>ABenign08/26/2016 
7FKTNEx3NM_001079802.1:c.-45G>TBenign12/06/2012 
8FKTNEx3NM_001079802.1:c.58T>Gp.Phe20Val | p.F20VLRG_434t1:c.58T>G, LRG_434t2:c.58T>G, NM_001079802.1:c.58T>G, NM_001198963.1:c.58T>G, NM_006731.2:c.58T>G, XM_005251803.1:c.58T>G, XM_005251804.1:c.58T>G, XM_005251805.1:c.58T>G, XM_005251806.1:c.58T>GVOUS12/05/2017
9FKTNEx3NM_001079802.1:c.63G>Cp.Leu21= | p.L21=NM_001079802.1:c.63G>C, NM_001198963.1:c.63G>C, NM_006731.2:c.63G>C, XM_005251803.1:c.63G>C, XM_005251804.1:c.63G>C, XM_005251805.1:c.63G>C, XM_005251806.1:c.63G>CVOUS01/27/2016
10FKTNEx3NM_001079802.1:c.105+36_105+39delTCTTVOUS08/31/2012
11FKTNEx4NM_001079802.1:c.106-40A>GBenign08/31/2012 
12FKTNEx4NM_001079802.1:c.106-10G>ABenign08/31/2012 
13FKTNEx4NM_001079802.1:c.139C>Tp.Arg47* | p.R47XLRG_434t1:c.139C>T, LRG_434t2:c.139C>T, NM_001079802.1:c.139C>T, NM_001198963.1:c.139C>T, NM_006731.2:c.139C>T, XM_005251803.1:c.139C>T, XM_005251804.1:c.139C>T, XM_005251805.1:c.139C>T, XM_005251806.1:c.139C>TPathogenic03/17/2017 
14FKTNEx4NM_001079802.1:c.143T>Cp.Ile48Thr | p.I48TLRG_434t1:c.143T>C, LRG_434t2:c.143T>C, NM_001079802.1:c.143T>C, NM_001198963.1:c.143T>C, NM_006731.2:c.143T>C, XM_005251803.1:c.143T>C, XM_005251804.1:c.143T>C, XM_005251805.1:c.143T>C, XM_005251806.1:c.143T>CVOUS09/19/2016
15FKTNEx4NM_001079802.1:c.165+4T>CVOUS08/27/2020
16FKTNEx4NM_001079802.1:c.165+29A>GVOUS08/31/2012
17FKTNEx5NM_001079802.1:c.166-9C>TLRG_434t1:c.166-9C>T, LRG_434t2:c.166-9C>T, NM_001079802.1:c.166-9C>T, NM_001198963.1:c.166-9C>T, NM_006731.2:c.166-9C>T, XM_005251803.1:c.166-9C>T, XM_005251804.1:c.166-9C>T, XM_005251805.1:c.166-9C>T, XM_005251806.1:c.166-9C>TVOUS05/04/2017
18FKTNEx5NM_001079802.1:c.166-6A>GBenign11/29/2012 
19FKTNEx5NM_001079802.1:c.166-4A>GLRG_434t1:c.166-4A>G, LRG_434t2:c.166-4A>G, NM_001079802.1:c.166-4A>G, NM_001198963.1:c.166-4A>G, NM_006731.2:c.166-4A>G, XM_005251803.1:c.166-4A>G, XM_005251804.1:c.166-4A>G, XM_005251805.1:c.166-4A>G, XM_005251806.1:c.166-4A>GVOUS11/17/2017
20FKTNEx5NM_001079802.1:c.166C>Tp.Arg56Cys | p.R56CNM_001079802.1:c.166C>T, NM_001198963.1:c.166C>T, NM_006731.2:c.166C>T, XM_005251803.1:c.166C>T, XM_005251804.1:c.166C>T, XM_005251805.1:c.166C>T, XM_005251806.1:c.166C>TBenign11/18/2014 
21FKTNEx5NM_001079802.1:c.167G>Ap.Arg56His | p.R56HLRG_434t1:c.167G>A, LRG_434t2:c.167G>A, NM_001079802.1:c.167G>A, NM_001198963.1:c.167G>A, NM_006731.2:c.167G>ALikely benign02/16/2016 
22FKTNEx5NM_001079802.1:c.180A>Gp.Lys60= | p.K60=NM_001079802.1:c.180A>G, NM_001198963.1:c.180A>G, NM_006731.2:c.180A>G, XM_005251803.1:c.180A>G, XM_005251804.1:c.180A>G, XM_005251805.1:c.180A>G, XM_005251806.1:c.180A>GVOUS09/01/2015
23FKTNEx5NM_001079802.1:c.198C>Gp.Ser66= | p.S66=LRG_434t1:c.198C>G, LRG_434t2:c.198C>G, NM_001079802.1:c.198C>G, NM_001198963.1:c.198C>G, NM_006731.2:c.198C>G, XM_005251803.1:c.198C>G, XM_005251804.1:c.198C>G, XM_005251805.1:c.198C>G, XM_005251806.1:c.198C>GVOUS01/05/2017
24FKTNEx5NM_001079802.1:c.293C>Tp.Thr98Ile | p.T98ILRG_434t1:c.293C>T, LRG_434t2:c.293C>T, NM_001079802.1:c.293C>T, NM_001198963.1:c.293C>T, NM_006731.2:c.293C>T, XM_005251803.1:c.293C>T, XM_005251804.1:c.293C>T, XM_005251805.1:c.293C>T, XM_005251806.1:c.293C>TVOUS07/08/2016
25FKTNEx5NM_001079802.1:c.296C>Tp.Ser99Leu | p.S99LNM_001079802.1:c.296C>T, NM_001198963.1:c.296C>T, NM_006731.2:c.296C>T, XM_005251803.1:c.296C>T, XM_005251804.1:c.296C>T, XM_005251805.1:c.296C>T, XM_005251806.1:c.296C>TVOUS11/12/2015
26FKTNEx5NM_001079802.1:c.301T>Cp.Cys101Arg | p.C101RLRG_434t1:c.301T>C, LRG_434t2:c.301T>C, NM_001079802.1:c.301T>C, NM_001198963.1:c.301T>C, NM_006731.2:c.301T>C, XM_005251803.1:c.301T>C, XM_005251804.1:c.301T>C, XM_005251805.1:c.301T>C, XM_005251806.1:c.301T>CVOUS07/05/2016
27FKTNEx5NM_001079802.1:c.330dupTNM_001079802.1:c.330_331insT, NM_001198963.1:c.330_331insT, NM_006731.2:c.330_331insT, XM_005251803.1:c.330_331insT, XM_005251804.1:c.330_331insT, XM_005251805.1:c.330_331insT, XM_005251806.1:c.330_331insTPathogenic07/22/2015 
28FKTNEx5NM_001079802.1:c.333T>Cp.Thr111= | p.T111=LRG_434t1:c.333T>C, LRG_434t2:c.333T>C, NM_001079802.1:c.333T>C, NM_001198963.1:c.333T>C, NM_006731.2:c.333T>C, XM_005251803.1:c.333T>C, XM_005251804.1:c.333T>C, XM_005251805.1:c.333T>C, XM_005251806.1:c.333T>CVOUS09/29/2016
29FKTNEx5NM_001079802.1:c.342A>Gp.Ala114= | p.A114=LRG_434t1:c.342A>G, LRG_434t2:c.342A>G, NM_001079802.1:c.342A>G, NM_001198963.1:c.342A>G, NM_006731.2:c.342A>G, XM_005251803.1:c.342A>G, XM_005251804.1:c.342A>G, XM_005251805.1:c.342A>G, XM_005251806.1:c.342A>GVOUS01/24/2017
30FKTNEx5NM_001079802.1:c.357A>Gp.Leu119= | p.L119=LRG_434t1:c.357A>G, LRG_434t2:c.357A>G, NM_001079802.1:c.357A>G, NM_001198963.1:c.357A>G, NM_006731.2:c.357A>G, XM_005251803.1:c.357A>G, XM_005251804.1:c.357A>G, XM_005251805.1:c.357A>G, XM_005251806.1:c.357A>GVOUS04/25/2017
31FKTNEx5NM_001079802.1:c.366T>Gp.Asn122Lys | p.N122KLRG_434t1:c.366T>G, LRG_434t2:c.366T>G, NM_001079802.1:c.366T>G, NM_001198963.1:c.366T>G, NM_006731.2:c.366T>G, XM_005251803.1:c.366T>G, XM_005251804.1:c.366T>G, XM_005251805.1:c.366T>G, XM_005251806.1:c.366T>GVOUS06/08/2016
32FKTNEx5NM_001079802.1:c.369+1G>CLRG_434t1:c.369+1G>C, LRG_434t2:c.369+1G>C, NM_001079802.1:c.369+1G>C, NM_001198963.1:c.369+1G>C, NM_006731.2:c.369+1G>C, XM_005251803.1:c.369+1G>C, XM_005251804.1:c.369+1G>C, XM_005251805.1:c.369+1G>C, XM_005251806.1:c.369+1G>CPathogenic02/08/2019 
33FKTNEx5NM_001079802.1:c.369+43C>TVOUS08/31/2012
34FKTNEx6NM_001079802.1:c.373G>Ap.Gly125Ser | p.G125SNM_001079802.1:c.373G>A, NM_001198963.1:c.373G>A, NM_006731.2:c.373G>ABenign12/06/2012 
35FKTNEx6NM_001079802.1:c.374G>Tp.Gly125Val | p.G125VLRG_434t1:c.374G>T, LRG_434t2:c.374G>T, NM_001079802.1:c.374G>T, NM_001198963.1:c.374G>T, NM_006731.2:c.374G>T, XM_005251803.1:c.374G>T, XM_005251804.1:c.374G>T, XM_005251805.1:c.374G>T, XM_005251806.1:c.374G>TVOUS05/05/2017
36FKTNEx6NM_001079802.1:c.382C>Tp.Arg128Trp | p.R128WNM_001079802.1:c.382C>T, NM_001198963.1:c.382C>T, NM_006731.2:c.382C>T, XM_005251803.1:c.382C>T, XM_005251804.1:c.382C>T, XM_005251805.1:c.382C>T, XM_005251806.1:c.382C>TVOUS09/14/2015
37FKTNEx6NM_001079802.1:c.383G>Ap.Arg128Gln | p.R128QLRG_434t1:c.383G>A, LRG_434t2:c.383G>A, NM_001079802.1:c.383G>A, NM_001198963.1:c.383G>A, NM_006731.2:c.383G>A, XM_005251803.1:c.383G>A, XM_005251804.1:c.383G>A, XM_005251805.1:c.383G>A, XM_005251806.1:c.383G>AVOUS11/17/2017
38FKTNEx6NM_001079802.1:c.393G>Ap.Glu131= | p.E131=LRG_434t1:c.393G>A, LRG_434t2:c.393G>A, NM_001079802.1:c.393G>A, NM_001198963.1:c.393G>A, NM_006731.2:c.393G>A, XM_005251803.1:c.393G>A, XM_005251804.1:c.393G>A, XM_005251805.1:c.393G>A, XM_005251806.1:c.393G>AVOUS08/17/2017
39FKTNEx6NM_001079802.1:c.402A>Tp.Gly134= | p.G134=NM_001079802.1:c.402A>T, NM_001198963.1:c.402A>T, NM_006731.2:c.402A>T, XM_005251803.1:c.402A>T, XM_005251804.1:c.402A>T, XM_005251805.1:c.402A>T, XM_005251806.1:c.402A>TVOUS10/29/2015
40FKTNEx6NM_001079802.1:c.411C>Ap.Cys137* | p.C137XNM_001079802.1:c.411C>APathogenic03/06/2014 
41FKTNEx6NM_001079802.1:c.411C>Tp.Cys137= | p.C137=LRG_434t1:c.411C>T, LRG_434t2:c.411C>T, NM_001079802.1:c.411C>T, NM_001198963.1:c.411C>T, NM_006731.2:c.411C>T, XM_005251803.1:c.411C>T, XM_005251804.1:c.411C>T, XM_005251805.1:c.411C>T, XM_005251806.1:c.411C>TVOUS09/01/2016
42FKTNEx6NM_001079802.1:c.437G>Ap.Arg146Gln | p.R146QLRG_434t1:c.437G>A, LRG_434t2:c.437G>A, NM_001079802.1:c.437G>A, NM_001198963.1:c.437G>A, NM_006731.2:c.437G>A, XM_005251803.1:c.437G>A, XM_005251804.1:c.437G>A, XM_005251805.1:c.437G>A, XM_005251806.1:c.437G>AVOUS08/16/2018
43FKTNEx6NM_001079802.1:c.443A>Gp.Asp148Gly | p.D148GNM_001079802.1:c.443A>G, NM_001198963.1:c.443A>G, NM_006731.2:c.443A>G, XM_005251803.1:c.443A>G, XM_005251804.1:c.443A>G, XM_005251805.1:c.443A>G, XM_005251806.1:c.443A>GVOUS02/04/2016
44FKTNEx6NM_001079802.1:c.445G>Ap.Gly149Arg | p.G149RLRG_434t1:c.445G>A, LRG_434t2:c.445G>A, NM_001079802.1:c.445G>A, NM_001198963.1:c.445G>A, NM_006731.2:c.445G>A, XM_005251803.1:c.445G>A, XM_005251804.1:c.445G>A, XM_005251805.1:c.445G>A, XM_005251806.1:c.445G>AVOUS05/04/2017
45FKTNEx6NM_001079802.1:c.448A>Gp.Ile150Val | p.I150VLRG_434t1:c.448A>G, LRG_434t2:c.448A>G, NM_001079802.1:c.448A>G, NM_001198963.1:c.448A>G, NM_006731.2:c.448A>G, XM_005251803.1:c.448A>G, XM_005251804.1:c.448A>G, XM_005251805.1:c.448A>G, XM_005251806.1:c.448A>GVOUS08/31/2016
46FKTNEx6NM_001079802.1:c.456_457delACNM_001079802.1:c.456_457delAC, NM_001198963.1:c.456_457delAC, NM_006731.2:c.456_457delAC, XM_005251803.1:c.456_457delAC, XM_005251804.1:c.456_457delAC, XM_005251805.1:c.456_457delAC, XM_005251806.1:c.456_457delACPathogenic10/08/2015 
47FKTNEx6NM_001079802.1:c.485A>Gp.Tyr162Cys | p.Y162CLRG_434t1:c.485A>G, LRG_434t2:c.485A>G, NM_001079802.1:c.485A>G, NM_001198963.1:c.485A>G, NM_006731.2:c.485A>G, XM_005251803.1:c.485A>G, XM_005251804.1:c.485A>G, XM_005251805.1:c.485A>G, XM_005251806.1:c.485A>GVOUS07/25/2016
48FKTNEx6NM_001079802.1:c.526T>Gp.Phe176Val | p.F176VLRG_434t1:c.526T>G, LRG_434t2:c.526T>G, NM_001079802.1:c.526T>G, NM_001198963.1:c.526T>G, NM_006731.2:c.526T>G, XM_005251803.1:c.526T>G, XM_005251804.1:c.526T>G, XM_005251805.1:c.526T>G, XM_005251806.1:c.526T>GVOUS06/20/2016
49FKTNEx6NM_001079802.1:c.531T>Ap.His177Gln | p.H177QLRG_434t1:c.531T>A, LRG_434t2:c.531T>A, NM_001079802.1:c.531T>A, NM_001198963.1:c.531T>A, NM_006731.2:c.531T>A, XM_005251803.1:c.531T>A, XM_005251804.1:c.531T>A, XM_005251805.1:c.531T>A, XM_005251806.1:c.531T>AVOUS12/22/2015
50FKTNEx6NM_001079802.1:c.608G>Ap.Arg203Gln | p.R203QLRG_434t1:c.608G>A, LRG_434t2:c.608G>A, NM_001079802.1:c.608G>A, NM_001198963.1:c.608G>A, NM_006731.2:c.608G>ABenign09/08/2015 
51FKTNEx6NM_001079802.1:c.626G>Ap.Arg209His | p.R209HLRG_434t1:c.626G>A, LRG_434t2:c.626G>A, NM_001079802.1:c.626G>A, NM_001198963.1:c.626G>A, NM_006731.2:c.626G>A, XM_005251803.1:c.626G>A, XM_005251804.1:c.626G>A, XM_005251805.1:c.626G>A, XM_005251806.1:c.626G>AVOUS05/05/2017
52FKTNEx6NM_001079802.1:c.642dupTPathogenic12/06/2012 
53FKTNEx7NM_001079802.1:c.648-8G>TLRG_434t1:c.648-8G>T, LRG_434t2:c.648-8G>T, NM_001079802.1:c.648-8G>T, NM_001198963.1:c.648-8G>T, NM_006731.2:c.648-8G>T, XM_005251803.1:c.648-8G>T, XM_005251804.1:c.648-8G>T, XM_005251805.1:c.648-8G>T, XM_005251806.1:c.648-8G>TVOUS03/28/2017
54FKTNEx7NM_001079802.1:c.657dupAp.Gln220Thrfs*6 | p.Q220TfsX6LRG_434t1:c.657dupA, LRG_434t2:c.657dupA, NM_001079802.1:c.657dupA, NM_001198963.1:c.657dupA, NM_006731.2:c.657dupA, XM_005251803.1:c.657dupA, XM_005251804.1:c.657dupA, XM_005251805.1:c.657dupA, XM_005251806.1:c.657dupAPathogenic04/28/2017 
55FKTNEx7NM_001079802.1:c.668C>Tp.Thr223Ile | p.T223INM_001079802.1:c.668C>T, NM_001198963.1:c.668C>T, NM_006731.2:c.668C>T, XM_005251803.1:c.668C>T, XM_005251804.1:c.668C>T, XM_005251805.1:c.668C>T, XM_005251806.1:c.668C>TBenign11/12/2015 
56FKTNEx7NM_001079802.1:c.681G>Ap.Leu227= | p.L227=LRG_434t1:c.681G>A, LRG_434t2:c.681G>A, NM_001079802.1:c.681G>A, NM_001198963.1:c.681G>A, NM_006731.2:c.681G>A, XM_005251803.1:c.681G>A, XM_005251804.1:c.681G>A, XM_005251805.1:c.681G>A, XM_005251806.1:c.681G>AVOUS11/21/2017
57FKTNEx7NM_001079802.1:c.694C>Tp.Pro232Ser | p.P232SLRG_434t1:c.694C>T, LRG_434t2:c.694C>T, NM_001079802.1:c.694C>T, NM_001198963.1:c.694C>T, NM_006731.2:c.694C>T, XM_005251803.1:c.694C>T, XM_005251804.1:c.694C>T, XM_005251805.1:c.694C>T, XM_005251806.1:c.694C>TVOUS04/05/2018
58FKTNEx7NM_001079802.1:c.699G>Cp.Lys233Asn | p.K233NNM_001079802.1:c.699G>C, NM_001198963.1:c.699G>C, NM_006731.2:c.699G>C, XM_005251803.1:c.699G>C, XM_005251804.1:c.699G>C, XM_005251805.1:c.699G>C, XM_005251806.1:c.699G>CVOUS10/16/2015
59FKTNEx7NM_001079802.1:c.703C>Ap.Pro235Thr | p.P235TLRG_434t1:c.703C>A, LRG_434t2:c.703C>A, NM_001079802.1:c.703C>A, NM_001198963.1:c.703C>A, NM_006731.2:c.703C>A, XM_005251803.1:c.703C>A, XM_005251804.1:c.703C>A, XM_005251805.1:c.703C>A, XM_005251806.1:c.703C>AVOUS08/08/2016
60FKTNEx7NM_001079802.1:c.706A>Gp.Met236Val | p.M236VNM_001079802.1:c.706A>G, NM_001198963.1:c.706A>G, NM_006731.2:c.706A>G, XM_005251803.1:c.706A>G, XM_005251804.1:c.706A>G, XM_005251805.1:c.706A>G, XM_005251806.1:c.706A>GVOUS07/20/2015
61FKTNEx7NM_001079802.1:c.727C>Tp.Pro243Ser | p.P243SLRG_434t1:c.727C>T, LRG_434t2:c.727C>T, NM_001079802.1:c.727C>T, NM_001198963.1:c.727C>T, NM_006731.2:c.727C>T, XM_005251803.1:c.727C>T, XM_005251804.1:c.727C>T, XM_005251805.1:c.727C>T, XM_005251806.1:c.727C>TVOUS10/03/2017
62FKTNEx7NM_001079802.1:c.748T>Cp.Cys250Arg | p.C250RLRG_434t1:c.748T>C, LRG_434t2:c.748T>C, NM_001079802.1:c.748T>C, NM_001198963.1:c.748T>C, NM_006731.2:c.748T>CLikely pathogenic02/08/2019 
63FKTNEx7NM_001079802.1:c.757A>Gp.Lys253Glu | p.K253ELRG_434t1:c.757A>G, LRG_434t2:c.757A>G, NM_001079802.1:c.757A>G, NM_001198963.1:c.757A>G, NM_006731.2:c.757A>G, XM_005251803.1:c.757A>G, XM_005251804.1:c.757A>G, XM_005251805.1:c.757A>G, XM_005251806.1:c.757A>GVOUS08/25/2016
64FKTNEx7NM_001079802.1:c.766C>Ap.Arg256= | p.R256=LRG_434t1:c.766C>A, LRG_434t2:c.766C>A, NM_001079802.1:c.766C>A, NM_001198963.1:c.766C>A, NM_006731.2:c.766C>A, XM_005251803.1:c.766C>A, XM_005251804.1:c.766C>A, XM_005251805.1:c.766C>A, XM_005251806.1:c.766C>AVOUS06/05/2018
65FKTNEx7NM_001079802.1:c.770C>Tp.Ala257Val | p.A257VLRG_434t1:c.770C>T, LRG_434t2:c.770C>T, NM_001079802.1:c.770C>T, NM_001198963.1:c.770C>T, NM_006731.2:c.770C>T, XM_005251803.1:c.770C>T, XM_005251804.1:c.770C>T, XM_005251805.1:c.770C>T, XM_005251806.1:c.770C>TVOUS09/07/2016
66FKTNEx8NM_001079802.1:c.820C>Tp.Arg274Trp | p.R274WLRG_434t1:c.820C>T, LRG_434t2:c.820C>T, NM_001079802.1:c.820C>T, NM_001198963.1:c.820C>T, NM_006731.2:c.820C>T, XM_005251803.1:c.820C>T, XM_005251804.1:c.820C>T, XM_005251805.1:c.820C>T, XM_005251806.1:c.817C>TVOUS09/26/2016
67FKTNEx8NM_001079802.1:c.854C>Tp.Ala285Val | p.A285VLRG_434t1:c.854C>T, LRG_434t2:c.854C>T, NM_001079802.1:c.854C>T, NM_001198963.1:c.854C>T, NM_006731.2:c.854C>T, XM_005251803.1:c.854C>T, XM_005251804.1:c.854C>T, XM_005251805.1:c.854C>T, XM_005251806.1:c.851C>TVOUS04/27/2016
68FKTNEx8NM_001079802.1:c.910+14G>ABenign11/29/2012 
69FKTNEx9NM_001079802.1:c.911-8C>ALRG_434t1:c.911-8C>A, LRG_434t2:c.911-8C>A, NM_001079802.1:c.911-8C>A, NM_001198963.1:c.911-8C>A, NM_006731.2:c.911-8C>A, XM_005251803.1:c.911-8C>A, XM_005251804.1:c.911-8C>A, XM_005251805.1:c.911-8C>A, XM_005251806.1:c.908-8C>AVOUS07/11/2016
70FKTNEx9NM_001079802.1:c.911-1G>ALRG_434t1:c.911-1G>A, LRG_434t2:c.911-1G>A, NM_001079802.1:c.911-1G>A, NM_001198963.1:c.911-1G>A, NM_006731.2:c.911-1G>A, XM_005251803.1:c.911-1G>A, XM_005251804.1:c.911-1G>A, XM_005251805.1:c.911-1G>A, XM_005251806.1:c.908-1G>APathogenic12/28/2017 
71FKTNEx9NM_001079802.1:c.920G>Ap.Arg307Gln | p.R307QLRG_434t1:c.920G>A, LRG_434t2:c.920G>A, NM_001079802.1:c.920G>A, NM_001198963.1:c.920G>A, NM_006731.2:c.920G>A, XM_005251803.1:c.920G>A, XM_005251804.1:c.920G>A, XM_005251805.1:c.920G>A, XM_005251806.1:c.917G>APathogenic06/15/2017 
72FKTNEx9NM_001079802.1:c.1009G>Tp.Asp337Tyr | p.D337YLRG_434t1:c.1009G>T, LRG_434t2:c.1009G>T, NM_001079802.1:c.1009G>T, NM_001198963.1:c.1009G>T, NM_006731.2:c.1009G>T, XM_005251803.1:c.1009G>T, XM_005251804.1:c.1009G>T, XM_005251805.1:c.1009G>T, XM_005251806.1:c.1006G>TVOUS05/16/2017
73FKTNEx9NM_001079802.1:c.1021C>Tp.Pro341Ser | p.P341SLRG_434t1:c.1021C>T, LRG_434t2:c.1021C>T, NM_001079802.1:c.1021C>T, NM_001198963.1:c.1021C>T, NM_006731.2:c.1021C>T, XM_005251803.1:c.1021C>T, XM_005251804.1:c.1021C>T, XM_005251805.1:c.1021C>T, XM_005251806.1:c.1018C>TVOUS08/08/2016
74FKTNEx9NM_001079802.1:c.1023G>Ap.Pro341= | p.P341=NM_001079802.1:c.1023G>A, NM_001198963.1:c.1023G>A, NM_006731.2:c.1023G>A, XM_005251803.1:c.1023G>A, XM_005251804.1:c.1023G>A, XM_005251805.1:c.1023G>A, XM_005251806.1:c.1020G>ALikely benign12/08/2015 
75FKTNEx9NM_001079802.1:c.1026C>Ap.Leu342= | p.L342=NM_001079802.1:c.1026C>A, NM_001198963.1:c.1026C>A, NM_006731.2:c.1026C>ABenign05/26/2015 
76FKTNEx10NM_001079802.1:c.1045-40C>ABenign08/31/2012 
77FKTNEx10NM_001079802.1:c.1158A>Gp.Thr386= | p.T386=LRG_434t1:c.1158A>G, LRG_434t2:c.1158A>G, NM_001079802.1:c.1158A>G, NM_001198963.1:c.1158A>G, NM_006731.2:c.1158A>G, XM_005251803.1:c.1158A>G, XM_005251804.1:c.1158A>G, XM_005251805.1:c.1158A>G, XM_005251806.1:c.1155A>GVOUS12/19/2016
78FKTNEx10NM_001079802.1:c.1159G>Ap.Gly387Arg | p.G387RLRG_434t1:c.1159G>A, LRG_434t2:c.1159G>A, NM_001079802.1:c.1159G>A, NM_001198963.1:c.1159G>A, NM_006731.2:c.1159G>AVOUS11/10/2017
79FKTNEx10NM_001079802.1:c.1167dupAp.Phe390Ilefs*14 | p.F390IfsX14LRG_434t1:c.1167_1168insA, LRG_434t1:c.1167dupA, LRG_434t2:c.1167_1168insA, LRG_434t2:c.1167dupA, NM_001079802.1:c.1167_1168insA, NM_001079802.1:c.1167dup, NM_001079802.1:c.1167dupA, NM_001198963.1:c.1167_1168insA, NM_001198963.1:c.1167dup, NM_001198963.1:c.1167dupA, NM_006731.2:c.1167_1168insA, NM_006731.2:c.1167dup, NM_006731.2:c.1167dupA, XM_005251803.1:c.1167_1168insA, XM_005251803.1:c.1167dupA, XM_005251804.1:c.1167_1168insA, XM_005251804.1:c.1167dupA, XM_005251805.1:c.1167_1168insA, XM_005251805.1:c.1167dupA, XM_005251806.1:c.1164_1165insA, XM_005251806.1:c.1164dupAPathogenic12/06/2012 
80FKTNEx11NM_001079802.1:c.1179G>Cp.Leu393= | p.L393=LRG_434t1:c.1179G>C, LRG_434t2:c.1179G>C, NM_001079802.1:c.1179G>C, NM_001198963.1:c.1179G>C, NM_006731.2:c.1179G>C, XM_005251803.1:c.1179G>C, XM_005251804.1:c.1179G>C, XM_005251805.1:c.1179G>C, XM_005251806.1:c.1176G>CVOUS10/03/2017
81FKTNEx11NM_001079802.1:c.1224G>Tp.Lys408Asn | p.K408NLRG_434t1:c.1224G>T, LRG_434t2:c.1224G>T, NM_001079802.1:c.1224G>T, NM_001198963.1:c.1224G>T, NM_006731.2:c.1224G>T, XM_005251803.1:c.1224G>T, XM_005251804.1:c.1224G>T, XM_005251805.1:c.1224G>T, XM_005251806.1:c.1221G>TVOUS09/20/2017
82FKTNEx11NM_001079802.1:c.1228C>Ap.His410Asn | p.H410NNM_001079802.1:c.1228C>A, NM_001198963.1:c.1228C>A, NM_006731.2:c.1228C>A, XM_005251803.1:c.1228C>A, XM_005251804.1:c.1228C>A, XM_005251805.1:c.1228C>A, XM_005251806.1:c.1225C>AVOUS09/22/2015
83FKTNEx11NM_001079802.1:c.1249G>Ap.Glu417Lys | p.E417KLRG_434t1:c.1249G>A, LRG_434t2:c.1249G>A, NM_001079802.1:c.1249G>A, NM_001198963.1:c.1249G>A, NM_006731.2:c.1249G>A, XM_005251803.1:c.1249G>A, XM_005251804.1:c.1249G>A, XM_005251805.1:c.1249G>A, XM_005251806.1:c.1246G>AVOUS06/27/2017
84FKTNEx11NM_001079802.1:c.1250A>Tp.Glu417Val | p.E417VNM_001079802.1:c.1250A>T, NM_001198963.1:c.1250A>T, NM_006731.2:c.1250A>T, XM_005251803.1:c.1250A>T, XM_005251804.1:c.1250A>T, XM_005251805.1:c.1250A>T, XM_005251806.1:c.1247A>TVOUS11/13/2015
85FKTNEx11NM_001079802.1:c.1270G>Ap.Gly424Ser | p.G424SLRG_434t1:c.1270G>A, LRG_434t2:c.1270G>A, NM_001079802.1:c.1270G>A, NM_001198963.1:c.1270G>A, NM_006731.2:c.1270G>A, XM_005251803.1:c.1270G>A, XM_005251804.1:c.1270G>A, XM_005251805.1:c.1270G>A, XM_005251806.1:c.1267G>AVOUS09/14/2016
86FKTNEx11NM_001079802.1:c.1297A>Gp.Thr433Ala | p.T433ANM_001079802.1:c.1297A>G, NM_001198963.1:c.1270+27A>G, NM_006731.2:c.1297A>G, XM_005251803.1:c.1297A>G, XM_005251804.1:c.1297A>G, XM_005251805.1:c.1297A>G, XM_005251806.1:c.1294A>GLikely benign12/10/2015 
87FKTNEx11NM_001079802.1:c.1312C>Tp.Arg438Cys | p.R438CLRG_434t1:c.1312C>T, LRG_434t2:c.1312C>T, NM_001079802.1:c.1312C>T, NM_001198963.1:c.1270+42C>T, NM_006731.2:c.1312C>T, XM_005251803.1:c.1312C>T, XM_005251804.1:c.1312C>T, XM_005251805.1:c.1312C>T, XM_005251806.1:c.1309C>TVOUS09/07/2016
88FKTNEx11NM_001079802.1:c.1317_1318dupTCp.Pro440Leufs*28 | p.P440LfsX28LRG_434t1:c.1317_1318dupTC, LRG_434t2:c.1317_1318dupTC, NM_001079802.1:c.1317_1318dupTC, NM_001079802.1:c.1318_1319insTC, NM_001198963.1:c.1270+47_1270+48dupTC, NM_001198963.1:c.1270+48_1270+49insTC, NM_006731.2:c.1317_1318dupTC, NM_006731.2:c.1318_1319insTC, XM_005251803.1:c.1317_1318dupTC, XM_005251803.1:c.1318_1319insTC, XM_005251804.1:c.1317_1318dupTC, XM_005251804.1:c.1318_1319insTC, XM_005251805.1:c.1317_1318dupTC, XM_005251805.1:c.1318_1319insTC, XM_005251806.1:c.1314_1315dupTC, XM_005251806.1:c.1315_1316insTCPathogenic10/27/2015 
89FKTNEx11NM_001079802.1:c.1336A>Gp.Asn446Asp | p.N446DNM_001079802.1:c.1336A>G, NM_001198963.1:c.1270+66A>G, NM_006731.2:c.1336A>G, XM_005251803.1:c.1336A>G, XM_005251804.1:c.1336A>G, XM_005251805.1:c.1336A>G, XM_005251806.1:c.1333A>GBenign12/06/2012 
90FKTNEx11NM_001079802.1:c.1337A>Gp.Asn446Ser | p.N446SLRG_434t1:c.1337A>G, LRG_434t2:c.1337A>G, NM_001079802.1:c.1337A>G, NM_001198963.1:c.1270+67A>G, NM_006731.2:c.1337A>G, XM_005251803.1:c.1337A>G, XM_005251804.1:c.1337A>G, XM_005251805.1:c.1337A>G, XM_005251806.1:c.1334A>GVOUS01/18/2017
91FKTNEx11NM_001079802.1:c.1380dupAp.Tyr461Ilefs*4 | p.Y461IfsX4LRG_434t1:c.1380dupA, LRG_434t2:c.1380dupA, NM_001079802.1:c.1380dupA, NM_001198963.1:c.1270+110dupA, NM_006731.2:c.1380dupA, XM_005251803.1:c.1380dupA, XM_005251804.1:c.1380dupA, XM_005251805.1:c.1380dupA, XM_005251806.1:c.1377dupAVOUS07/05/2018
92FKTNEx11NM_001079802.1:c.*2280T>CLRG_434t1:c.*2280T>C, LRG_434t2:c.*2280T>C, NM_001079802.1:c.*2280T>C, NM_001198963.1:c.1270+2396T>C, NM_006731.2:c.*2280T>C, XM_005251803.1:c.*2280T>C, XM_005251804.1:c.*2280T>C, XM_005251805.1:c.*2280T>C, XM_005251806.1:c.*2280T>CBenign03/10/2016 
93FKTNEx11NM_001079802.1:c.*4375_*4376ins3062NM_001079802.1:c.*4375_*4376ins3062, NM_001198963.1:c.1271-462_1271-461ins3062, NM_006731.2:c.*4375_*4376ins3062, XM_005251803.1:c.*4375_*4376ins3062, XM_005251804.1:c.*4375_*4376ins3062, XM_005251805.1:c.*4375_*4376ins3062, XM_005251806.1:c.*4375_*4376ins3062Pathogenic02/04/2015 
94FKTNEx11NM_001079802.1:c.*4388delANM_001079802.1:c.*4388delA, NM_001198963.1:c.1271-449delA, NM_006731.2:c.*4388delA, XM_005251803.1:c.*4388delA, XM_005251804.1:c.*4388delA, XM_005251805.1:c.*4388delA, XM_005251806.1:c.*4388delALikely benign12/16/2015 

* 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.