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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  
1LIPAEx2NM_000235.2:c.6A>Tp.Lys2Asn | p.K2NNM_000235.2:c.6A>T, NM_001127605.1:c.6A>TVOUS02/03/2018
2LIPAEx2NM_000235.2:c.11G>Ap.Arg4Gln | p.R4QNM_000235.2:c.11G>A, NM_001127605.1:c.11G>AVOUS10/29/2019
3LIPAEx2NM_000235.2:c.28G>Ap.Val10Ile | p.V10INM_000235.2:c.28G>A, NM_001127605.1:c.28G>AVOUS08/23/2017
4LIPAEx2NM_000235.2:c.42C>Tp.Leu14= | p.L14=NM_000235.2:c.42C>T, NM_001127605.1:c.42C>TVOUS11/08/2017
5LIPAEx2NM_000235.2:c.43T>Cp.Trp15Arg | p.W15RNM_000235.2:c.43T>C, NM_001127605.1:c.43T>CVOUS12/21/2017
6LIPAEx2NM_000235.2:c.46A>Cp.Thr16Pro | p.T16PNM_000235.2:c.46A>C, NM_001127605.1:c.46A>CBenign03/27/2015 
7LIPAEx2NM_000235.2:c.93T>Cp.Pro31= | p.P31=NM_000235.2:c.93T>C, NM_001127605.1:c.93T>CVOUS05/07/2019
8LIPAEx3NM_000235.2:c.112-9T>CNM_000235.2:c.112-9T>C, NM_001127605.1:c.112-9T>CVOUS02/07/2020
9LIPAEx3NM_000235.2:c.112-6C>TNM_000235.2:c.112-6C>T, NM_001127605.1:c.112-6C>TBenign03/29/2019 
10LIPAEx3NM_000235.2:c.135A>Tp.Gly45= | p.G45=NM_000235.2:c.135A>T, NM_001127605.1:c.135A>TVOUS02/20/2020
11LIPAEx3NM_000235.2:c.166G>Ap.Glu56Lys | p.E56KNM_000235.2:c.166G>A, NM_001127605.1:c.166G>AVOUS06/05/2018
12LIPAEx3NM_000235.2:c.203A>Gp.His68Arg | p.H68RNM_000235.2:c.203A>G, NM_001127605.1:c.203A>GVOUS02/21/2020
13LIPAEx3NM_000235.2:c.227A>Gp.Lys76Arg | p.K76RNM_000235.2:c.227A>G, NM_001127605.1:c.227A>GVOUS07/17/2018
14LIPAEx4NM_000235.2:c.232C>Ap.Pro78Thr | p.P78TNM_000235.2:c.232C>A, NM_001127605.1:c.232C>AVOUS07/20/2018
15LIPAEx4NM_000235.2:c.256C>Tp.His86Tyr | p.H86YNM_000235.2:c.256C>T, NM_001127605.1:c.256C>TVOUS11/22/2019
16LIPAEx4NM_000235.2:c.264G>Tp.Leu88Phe | p.L88FNM_000235.2:c.264G>T, NM_001127605.1:c.264G>TVOUS11/14/2018
17LIPAEx4NM_000235.2:c.275C>Gp.Ser92Cys | p.S92CNM_000235.2:c.275C>G, NM_001127605.1:c.275C>GVOUS05/30/2019
18LIPAEx4NM_000235.2:c.279T>Cp.Ser93= | p.S93=NM_000235.2:c.279T>C, NM_001127605.1:c.279T>CVOUS12/19/2019
19LIPAEx4NM_000235.2:c.294C>Gp.Asn98Lys | p.N98KNM_000235.2:c.294C>G, NM_001127605.1:c.294C>GVOUS04/18/2017
20LIPAEx4NM_000235.2:c.325G>Ap.Ala109Thr | p.A109TVOUS11/19/2019
21LIPAEx4NM_000235.2:c.342C>Tp.Asp114= | p.D114=NM_000235.2:c.342C>T, NM_001127605.1:c.342C>TVOUS09/18/2018
22LIPAEx4NM_000235.2:c.350_351insCCp.Met117Ilefs*45 | p.M117IfsX45NM_000235.2:c.350_351insCC, NM_001127605.1:c.350_351insCCPathogenic02/26/2018 
23LIPAEx4NM_000235.2:c.372C>Gp.Thr124= | p.T124=NM_000235.2:c.372C>G, NM_001127605.1:c.372C>GVOUS06/04/2019
24LIPAEx4NM_000235.2:c.372C>Tp.Thr124= | p.T124=NM_000235.2:c.372C>T, NM_001127605.1:c.372C>TVOUS03/23/2018
25LIPAEx4NM_000235.2:c.379C>Tp.Arg127Trp | p.R127WNM_000235.2:c.379C>T, NM_001127605.1:c.379C>TVOUS08/13/2019
26LIPAEx4NM_000235.2:c.380G>Ap.Arg127Gln | p.R127QNM_000235.2:c.380G>A, NM_001127605.1:c.380G>AVOUS02/13/2019
27LIPAEx4NM_000235.2:c.396C>Gp.Leu132= | p.L132=NM_000235.2:c.396C>G, NM_001127605.1:c.396C>GVOUS04/18/2019
28LIPAEx4NM_000235.2:c.397_398delTCp.Val134Phefs*4 | p.V134FfsX4NM_000235.2:c.397_398delTC, NM_001127605.1:c.397_398delTCPathogenic08/01/2017 
29LIPAEx4NM_000235.2:c.398delCp.Ser133* | p.S133XNM_000235.2:c.398delC, NM_001127605.1:c.398delCPathogenic01/09/2018 
30LIPAEx4NM_000235.2:c.428+3A>GNM_000235.2:c.428+3A>G, NM_001127605.1:c.428+3A>GVOUS10/25/2017
31LIPAEx5NM_000235.2:c.429-10T>GNM_000235.2:c.429-10T>G, NM_001127605.1:c.429-10T>GVOUS10/09/2017
32LIPAEx5NM_000235.2:c.440T>Cp.Met147Thr | p.M147TNM_000235.2:c.440T>C, NM_001127605.1:c.440T>CVOUS07/16/2019
33LIPAEx5NM_000235.2:c.449A>Gp.Tyr150Cys | p.Y150CNM_000235.2:c.449A>G, NM_001127605.1:c.449A>GVOUS11/30/2016
34LIPAEx5NM_000235.2:c.459dupAp.Ala154Serfs*4 | p.A154SfsX4NM_000235.2:c.459dupA, NM_001127605.1:c.459dupAPathogenic12/20/2017 
35LIPAEx5NM_000235.2:c.468T>Cp.Ile156= | p.I156=NM_000235.2:c.468T>C, NM_001127605.1:c.468T>CVOUS02/20/2020
36LIPAEx5NM_000235.2:c.483T>Cp.Asn161= | p.N161=NM_000235.2:c.483T>C, NM_001127605.1:c.483T>CVOUS03/06/2018
37LIPAEx6NM_000235.2:c.539-6T>CNM_000235.2:c.539-6T>C, NM_001127605.1:c.539-6T>CLikely benign06/05/2018 
38LIPAEx6NM_000235.2:c.539-5C>ANM_000235.2:c.539-5C>A, NM_001127605.1:c.539-5C>AVOUS08/19/2019
39LIPAEx6NM_000235.2:c.539-3C>TNM_000235.2:c.539-3C>T, NM_001127605.1:c.539-3C>TVOUS06/21/2017
40LIPAEx6NM_000235.2:c.615C>Tp.Ser205= | p.S205=NM_000235.2:c.615C>T, NM_001127605.1:c.615C>TVOUS06/28/2018
41LIPAEx6NM_000235.2:c.615C>Gp.Ser205= | p.S205=NM_000235.2:c.615C>G, NM_001127605.1:c.615C>GVOUS01/02/2018
42LIPAEx6NM_000235.2:c.618C>Ap.Val206= | p.V206=NM_000235.2:c.618C>A, NM_001127605.1:c.618C>AVOUS08/22/2018
43LIPAEx6NM_000235.2:c.618C>Tp.Val206= | p.V206=NM_000235.2:c.618C>T, NM_001127605.1:c.618C>TVOUS09/27/2017
44LIPAEx6NM_000235.2:c.662A>Gp.Asp221Gly | p.D221GNM_000235.2:c.662A>G, NM_001127605.1:c.662A>GVOUS02/22/2019
45LIPAEx7NM_000235.2:c.676-23T>CNM_000235.2:c.676-23T>C, NM_001127605.1:c.676-23T>CVOUS07/23/2019
46LIPAEx7NM_000235.2:c.683T>Cp.Phe228Ser | p.F228SNM_000235.2:c.683T>C, NM_001127605.1:c.683T>CVOUS07/14/2019
47LIPAEx7NM_000235.2:c.714G>Ap.Ala238= | p.A238=NM_000235.2:c.714G>A, NM_001127605.1:c.714G>AVOUS02/20/2020
48LIPAEx7NM_000235.2:c.748C>Gp.His250Asp | p.H250DNM_000235.2:c.748C>G, NM_001127605.1:c.748C>GVOUS11/27/2018
49LIPAEx7NM_000235.2:c.749A>Cp.His250Pro | p.H250PNM_000235.2:c.749A>C, NM_001127605.1:c.749A>CVOUS03/14/2017
50LIPAEx7NM_000235.2:c.754A>Tp.Ile252Leu | p.I252LNM_000235.2:c.754A>T, NM_001127605.1:c.754A>TLikely benign04/13/2017 
51LIPAEx7NM_000235.2:c.756A>Cp.Ile252= | p.I252=NM_000235.2:c.756A>C, NM_001127605.1:c.756A>CLikely benign04/29/2019 
52LIPAEx7NM_000235.2:c.807G>Cp.Glu269Asp | p.E269DNM_000235.2:c.807G>C, NM_001127605.1:c.807G>CVOUS10/04/2017
53LIPAEx7NM_000235.2:c.817_820delAATAp.Asn273Cysfs*57 | p.N273CfsX57NM_000235.2:c.817_820delAATA, NM_001127605.1:c.817_820delAATAPathogenic12/21/2017 
54LIPAEx7NM_000235.2:c.822G>Cp.Met274Ile | p.M274INM_000235.2:c.822G>C, NM_001127605.1:c.822G>CVOUS09/17/2018
55LIPAEx7NM_000235.2:c.822+1G>CNM_000235.2:c.822+1G>C, NM_001127605.1:c.822+1G>CPathogenic12/13/2017 
56LIPAEx8NM_000235.2:c.846A>Gp.Thr282= | p.T282=NM_000235.2:c.846A>G, NM_001127605.1:c.846A>GVOUS01/10/2019
57LIPAEx8NM_000235.2:c.870G>Ap.Val290= | p.V290=NM_000235.2:c.870G>A, NM_001127605.1:c.870G>AVOUS06/08/2016
58LIPAEx8NM_000235.2:c.885C>Tp.His295= | p.H295=NM_000235.2:c.885C>T, NM_001127605.1:c.885C>TVOUS07/14/2016
59LIPAEx8NM_000235.2:c.888G>Cp.Trp296Cys | p.W296CNM_000235.2:c.888G>C, NM_001127605.1:c.888G>CVOUS03/24/2017
60LIPAEx8NM_000235.2:c.889A>Gp.Ser297Gly | p.S297GNM_000235.2:c.889A>G, NM_001127605.1:c.889A>GVOUS02/06/2019
61LIPAEx8NM_000235.2:c.891C>Tp.Ser297= | p.S297=NM_000235.2:c.891C>T, NM_001127605.1:c.891C>TVOUS11/28/2016
62LIPAEx8NM_000235.2:c.894G>Ap.Gln298= | p.Q298=NM_000235.2:c.894G>A, NM_001127605.1:c.894G>APathogenic03/22/2019 
63LIPAEx9NM_000235.2:c.895-7T>CNM_000235.2:c.895-7T>C, NM_001127605.1:c.895-7T>CVOUS01/22/2019
64LIPAEx9NM_000235.2:c.929G>Ap.Trp310* | p.W310XNM_000235.2:c.929G>A, NM_001127605.1:c.929G>ALikely pathogenic03/24/2020 
65LIPAEx9NM_000235.2:c.966+3A>TNM_000235.2:c.966+3A>T, NM_001127605.1:c.966+3A>TVOUS09/17/2019
66LIPAEx10NM_000235.2:c.1005G>Ap.Val335= | p.V335=NM_000235.2:c.1005G>A, NM_001127605.1:c.1005G>AVOUS01/31/2018
67LIPAEx10NM_000235.2:c.1007C>Tp.Pro336Leu | p.P336LNM_000235.2:c.1007C>T, NM_001127605.1:c.1007C>TVOUS11/12/2019
68LIPAEx10NM_000235.2:c.1009A>Gp.Thr337Ala | p.T337ANM_000235.2:c.1009A>G, NM_001127605.1:c.1009A>GLikely benign04/09/2019 
69LIPAEx10NM_000235.2:c.1023C>Tp.Ser341= | p.S341=NM_000235.2:c.1023C>T, NM_001127605.1:c.1023C>TVOUS12/06/2018
70LIPAEx10NM_000235.2:c.1032C>Gp.His344Gln | p.H344QNM_000235.2:c.1032C>G, NM_001127605.1:c.1032C>GVOUS01/26/2018
71LIPAEx10NM_000235.2:c.1046A>Gp.Asp349Gly | p.D349GNM_000235.2:c.1046A>G, NM_001127605.1:c.1046A>GVOUS08/10/2018
72LIPAEx10NM_000235.2:c.1056C>Tp.Asp352= | p.D352=NM_000235.2:c.1056C>T, NM_001127605.1:c.1056C>TVOUS09/18/2018
73LIPAEx10NM_000235.2:c.1068A>Gp.Leu356= | p.L356=NM_000235.2:c.1068A>G, NM_001127605.1:c.1068A>GVOUS09/20/2019
74LIPAEx10NM_000235.2:c.1077G>Ap.Gln359= | p.Q359=NM_000235.2:c.1077G>A, NM_001127605.1:c.1077G>AVOUS11/08/2017
75LIPAEx10NM_000235.2:c.1079T>Ap.Ile360Asn | p.I360NNM_000235.2:c.1079T>A, NM_001127605.1:c.1079T>AVOUS11/27/2018
76LIPAEx10NM_000235.2:c.1099G>Ap.Glu367Lys | p.E367KNM_000235.2:c.1099G>A, NM_001127605.1:c.1099G>AVOUS01/13/2020
77LIPAEx10NM_000235.2:c.1108C>Gp.Pro370Ala | p.P370ANM_000235.2:c.1108C>G, NM_001127605.1:c.1108C>GVOUS10/04/2019
78LIPAEx10NM_000235.2:c.1109C>Tp.Pro370Leu | p.P370LNM_000235.2:c.1109C>T, NM_001127605.1:c.1109C>TVOUS10/18/2019
79LIPAEx10NM_000235.2:c.1110G>Ap.Pro370= | p.P370=NM_000235.2:c.1110G>A, NM_001127605.1:c.1110G>AVOUS11/07/2018
80LIPAEx10NM_000235.2:c.1113A>Gp.Glu371= | p.E371=NM_000235.2:c.1113A>G, NM_001127605.1:c.1113A>GBenign12/30/2014 
81LIPAEx10NM_000235.2:c.1128C>Tp.Asp376= | p.D376=NM_000235.2:c.1128C>T, NM_001127605.1:c.1128C>TVOUS08/26/2015
82LIPAEx2NM_000235.3:c.46A>Cp.Thr16Pro | p.T16PNM_000235.2:c.46A>C, NM_001127605.1:c.46A>CBenign11/18/2020 
83LIPAEx2NM_000235.3:c.67G>Ap.Gly23Arg | p.G23RNM_000235.2:c.67G>A, NM_001127605.1:c.67G>ABenign04/01/2020 
84LIPAEx3NM_000235.3:c.112-9T>CVOUS04/23/2020
85LIPAEx3NM_000235.3:c.193C>Tp.Arg65* | p.R65XNM_000235.2:c.193C>T, NM_001127605.1:c.193C>TPathogenic12/04/2020 
86LIPAEx4NM_000235.3:c.230-4T>CVOUS06/04/2020
87LIPAEx4NM_000235.3:c.265C>Tp.Leu89= | p.L89=NM_000235.2:c.265C>T, NM_001127605.1:c.265C>TVOUS04/23/2020
88LIPAEx4NM_000235.3:c.279T>Cp.Ser93= | p.S93=NM_000235.2:c.279T>C, NM_001127605.1:c.279T>CVOUS10/08/2020
89LIPAEx4NM_000235.3:c.364G>Ap.Gly122Arg | p.G122RNM_000235.2:c.364G>A, NM_001127605.1:c.364G>AVOUS01/21/2021
90LIPAEx6NM_000235.3:c.539-5C>TBenign11/18/2020 
91LIPAEx6NM_000235.3:c.615C>Tp.Ser205= | p.S205=NM_000235.2:c.615C>T, NM_001127605.1:c.615C>TVOUS12/08/2020
92LIPAEx6NM_000235.3:c.618C>Ap.Val206= | p.V206=NM_000235.2:c.618C>A, NM_001127605.1:c.618C>AVOUS02/15/2021
93LIPAEx6NM_000235.3:c.624C>Gp.Phe208Leu | p.F208LNM_000235.2:c.624C>G, NM_001127605.1:c.624C>GVOUS11/09/2020
94LIPAEx6NM_000235.3:c.662A>Gp.Asp221Gly | p.D221GNM_000235.2:c.662A>G, NM_001127605.1:c.662A>GVOUS08/28/2020
95LIPAEx7NM_000235.3:c.676-23T>CVOUS03/01/2021
96LIPAEx7NM_000235.3:c.682T>Cp.Phe228Leu | p.F228LNM_000235.2:c.682T>C, NM_001127605.1:c.682T>CVOUS11/20/2020
97LIPAEx7NM_000235.3:c.683T>Cp.Phe228Ser | p.F228SNM_000235.2:c.683T>C, NM_001127605.1:c.683T>CVOUS06/18/2020
98LIPAEx7NM_000235.3:c.692A>Cp.Lys231Thr | p.K231TNM_000235.2:c.692A>C, NM_001127605.1:c.692A>CVOUS03/18/2021
99LIPAEx7NM_000235.3:c.749A>Cp.His250Pro | p.H250PNM_000235.2:c.749A>C, NM_001127605.1:c.749A>CVOUS01/22/2021
100LIPAEx7NM_000235.3:c.754A>Tp.Ile252Leu | p.I252LNM_000235.2:c.754A>T, NM_001127605.1:c.754A>TLikely benign05/19/2020 
101LIPAEx7NM_000235.3:c.756A>Cp.Ile252= | p.I252=NM_000235.2:c.756A>C, NM_001127605.1:c.756A>CLikely benign04/23/2020 
102LIPAEx7NM_000235.3:c.770G>Ap.Cys257Tyr | p.C257YNM_000235.2:c.770G>A, NM_001127605.1:c.770G>AVOUS02/22/2021
103LIPAEx7NM_000235.3:c.780C>Tp.Leu260= | p.L260=NM_000235.2:c.780C>T, NM_001127605.1:c.780C>TVOUS07/08/2020
104LIPAEx8NM_000235.3:c.889A>Gp.Ser297Gly | p.S297GNM_000235.2:c.889A>G, NM_001127605.1:c.889A>GVOUS02/17/2021
105LIPAEx8NM_000235.3:c.891C>Tp.Ser297= | p.S297=NM_000235.2:c.891C>T, NM_001127605.1:c.891C>TVOUS03/11/2021
106LIPAEx8NM_000235.3:c.894G>Ap.Gln298= | p.Q298=NM_000235.2:c.894G>A, NM_001127605.1:c.894G>APathogenic03/08/2021 
107LIPAEx10NM_000235.3:c.1030C>Tp.His344Tyr | p.H344YNM_000235.2:c.1030C>T, NM_001127605.1:c.1030C>TVOUS07/24/2020
108LIPAEx10NM_000235.3:c.1046A>Gp.Asp349Gly | p.D349GNM_000235.2:c.1046A>G, NM_001127605.1:c.1046A>GVOUS06/29/2020
109LIPAEx10NM_000235.3:c.1068A>Gp.Leu356= | p.L356=NM_000235.2:c.1068A>G, NM_001127605.1:c.1068A>GVOUS08/07/2020
110LIPAEx10NM_000235.3:c.1113A>Gp.Glu371= | p.E371=NM_000235.2:c.1113A>G, NM_001127605.1:c.1113A>GBenign04/23/2020 

* 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.