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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  
1FLNCEx1NM_001458.4:c.272A>Cp.Asn91Thr | p.N91TNM_001127487.1:c.272A>C, NM_001458.4:c.272A>C, XM_005250236.1:c.272A>CVOUS09/19/2015
2FLNCEx2NM_001458.4:c.597C>Tp.Ala199= | p.A199=NM_001127487.1:c.597C>T, NM_001458.4:c.597C>T, XM_005250236.1:c.597C>TBenign04/12/2017 
3FLNCEx7NM_001458.4:c.1197C>Tp.Asp399= | p.D399=NM_001127487.1:c.1197C>T, NM_001458.4:c.1197C>T, XM_005250236.1:c.1197C>TVOUS09/17/2015
4FLNCEx9NM_001458.4:c.1425C>Tp.Asn475= | p.N475=LRG_870t1:c.1425C>T, NM_001127487.1:c.1425C>T, NM_001458.4:c.1425C>T, XM_005250236.1:c.1425C>TBenign09/20/2016 
5FLNCEx9NM_001458.4:c.1502C>Tp.Thr501Ile | p.T501INM_001127487.1:c.1502C>T, NM_001458.4:c.1502C>T, XM_005250236.1:c.1502C>TVOUS10/27/2014
6FLNCEx9NM_001458.4:c.1505A>Tp.Lys502Met | p.K502MLRG_870t1:c.1505A>T, NM_001127487.1:c.1505A>T, NM_001458.4:c.1505A>T, XM_005250236.1:c.1505A>TVOUS01/04/2018
7FLNCEx9NM_001458.4:c.1519G>Ap.Gly507Arg | p.G507RLRG_870t1:c.1519G>A, NM_001127487.1:c.1519G>A, NM_001458.4:c.1519G>A, XM_005250236.1:c.1519G>AVOUS02/08/2017
8FLNCEx10NM_001458.4:c.1577G>Ap.Arg526Gln | p.R526QNM_001127487.1:c.1577G>A, NM_001458.4:c.1577G>A, XM_005250236.1:c.1577G>ABenign05/22/2015 
9FLNCEx10NM_001458.4:c.1600G>Ap.Glu534Lys | p.E534KNM_001127487.1:c.1600G>A, NM_001458.4:c.1600G>A, XM_005250236.1:c.1600G>AVOUS03/07/2017
10FLNCEx11NM_001458.4:c.1698C>Tp.Ser566= | p.S566=NM_001127487.1:c.1698C>T, NM_001458.4:c.1698C>T, XM_005250236.1:c.1698C>TVOUS01/20/2015
11FLNCEx11NM_001458.4:c.1813+11G>TLRG_870t1:c.1813+11G>T, NM_001127487.1:c.1813+11G>T, NM_001458.4:c.1813+11G>T, XM_005250236.1:c.1813+11G>TVOUS08/24/2016
12FLNCEx12NM_001458.4:c.1902G>Ap.Glu634= | p.E634=NM_001127487.1:c.1902G>A, NM_001458.4:c.1902G>A, XM_005250236.1:c.1902G>ABenign11/21/2014 
13FLNCEx12NM_001458.4:c.1976T>Gp.Leu659Arg | p.L659RLRG_870t1:c.1976T>G, NM_001127487.1:c.1976T>G, NM_001458.4:c.1976T>G, XM_005250236.1:c.1976T>GLikely benign08/04/2016 
14FLNCEx13NM_001458.4:c.2008-7C>TNM_001127487.1:c.2008-7C>T, NM_001458.4:c.2008-7C>T, XM_005250236.1:c.2008-7C>TVOUS02/05/2015
15FLNCEx13NM_001458.4:c.2040C>Tp.Thr680= | p.T680=NM_001127487.1:c.2040C>T, NM_001458.4:c.2040C>T, XM_005250236.1:c.2040C>TVOUS07/21/2014
16FLNCEx13NM_001458.4:c.2078A>Cp.Asp693Ala | p.D693ANM_001127487.1:c.2078A>C, NM_001458.4:c.2078A>C, XM_005250236.1:c.2078A>CBenign08/27/2015 
17FLNCEx14NM_001458.4:c.2130C>Tp.Asp710= | p.D710=LRG_870t1:c.2130C>T, NM_001127487.1:c.2130C>T, NM_001458.4:c.2130C>T, XM_005250236.1:c.2130C>TVOUS07/13/2016
18FLNCEx14NM_001458.4:c.2244C>Ap.Asn748Lys | p.N748KNM_001127487.1:c.2244C>A, NM_001458.4:c.2244C>A, XM_005250236.1:c.2244C>AVOUS11/03/2015
19FLNCEx16NM_001458.4:c.2390-8C>GLRG_870t1:c.2390-8C>G, NM_001127487.1:c.2390-8C>G, NM_001458.4:c.2390-8C>G, XM_005250236.1:c.2390-8C>GVOUS05/18/2016
20FLNCEx16NM_001458.4:c.2459A>Tp.Asp820Val | p.D820VLRG_870t1:c.2459A>T, NM_001127487.1:c.2459A>T, NM_001458.4:c.2459A>T, XM_005250236.1:c.2459A>TVOUS09/20/2016
21FLNCEx16NM_001458.4:c.2501C>Tp.Thr834Met | p.T834MNM_001127487.1:c.2501C>T, NM_001458.4:c.2501C>T, XM_005250236.1:c.2501C>TBenign06/27/2014 
22FLNCEx18NM_001458.4:c.2733G>Ap.Lys911= | p.K911=LRG_870t1:c.2733G>A, NM_001127487.1:c.2733G>A, NM_001458.4:c.2733G>A, XM_005250236.1:c.2733G>AVOUS05/15/2018
23FLNCEx20NM_001458.4:c.3006G>Ap.Arg1002= | p.R1002=LRG_870t1:c.3006G>A, NM_001127487.1:c.3006G>A, NM_001458.4:c.3006G>A, XM_005250236.1:c.3006G>ABenign03/01/2016 
24FLNCEx20NM_001458.4:c.3054C>Tp.Gly1018= | p.G1018=NM_001127487.1:c.3054C>T, NM_001458.4:c.3054C>T, XM_005250236.1:c.3054C>TVOUS08/25/2014
25FLNCEx21NM_001458.4:c.3243G>Ap.Ala1081= | p.A1081=NM_001127487.1:c.3243G>A, NM_001458.4:c.3243G>A, XM_005250236.1:c.3243G>AVOUS04/15/2015
26FLNCEx21NM_001458.4:c.3489G>Cp.Pro1163= | p.P1163=NM_001127487.1:c.3489G>C, NM_001458.4:c.3489G>C, XM_005250236.1:c.3489G>CVOUS01/14/2016
27FLNCEx21NM_001458.4:c.3506A>Gp.Lys1169Arg | p.K1169RLRG_870t1:c.3506A>G, NM_001127487.1:c.3506A>G, NM_001458.4:c.3506A>G, XM_005250236.1:c.3506A>GBenign08/05/2016 
28FLNCEx21NM_001458.4:c.3721C>Tp.Arg1241Cys | p.R1241CNM_001127487.1:c.3721C>T, NM_001458.4:c.3721C>T, XM_005250236.1:c.3721C>TBenign06/23/2015 
29FLNCEx22NM_001458.4:c.3949A>Gp.Thr1317Ala | p.T1317ALRG_870t1:c.3949A>G, NM_001127487.1:c.3949A>G, NM_001458.4:c.3949A>G, XM_005250236.1:c.3949A>GVOUS10/13/2017
30FLNCEx23NM_001458.4:c.3966C>Tp.Gly1322= | p.G1322=NM_001127487.1:c.3966C>T, NM_001458.4:c.3966C>T, XM_005250236.1:c.3966C>TVOUS02/01/2017
31FLNCEx23NM_001458.4:c.3973C>Tp.Leu1325= | p.L1325=NM_001127487.1:c.3973C>T, NM_001458.4:c.3973C>T, XM_005250236.1:c.3973C>TBenign06/04/2015 
32FLNCEx23NM_001458.4:c.4009A>Cp.Lys1337Gln | p.K1337QLRG_870t1:c.4009A>C, NM_001127487.1:c.4009A>C, NM_001458.4:c.4009A>C, XM_005250236.1:c.4009A>CVOUS04/19/2017
33FLNCEx23NM_001458.4:c.4022G>Ap.Arg1341Gln | p.R1341QNM_001127487.1:c.4022G>A, NM_001458.4:c.4022G>A, XM_005250236.1:c.4022G>AVOUS06/04/2015
34FLNCEx24NM_001458.4:c.4133C>Tp.Ala1378Val | p.A1378VLRG_870t1:c.4133C>T, NM_001127487.1:c.4133C>T, NM_001458.4:c.4133C>T, XM_005250236.1:c.4133C>TVOUS06/02/2016
35FLNCEx25NM_001458.4:c.4289-4A>CNM_001127487.1:c.4289-4A>C, NM_001458.4:c.4289-4A>C, XM_005250236.1:c.4289-4A>CBenign12/28/2016 
36FLNCEx25NM_001458.4:c.4301G>Ap.Arg1434His | p.R1434HLRG_870t1:c.4301G>A, NM_001127487.1:c.4301G>A, NM_001458.4:c.4301G>A, XM_005250236.1:c.4301G>AVOUS08/03/2018
37FLNCEx25NM_001458.4:c.4404T>Cp.Asp1468= | p.D1468=NM_001127487.1:c.4404T>C, NM_001458.4:c.4404T>C, XM_005250236.1:c.4404T>CBenign06/03/2016 
38FLNCEx25NM_001458.4:c.4431G>Ap.Leu1477= | p.L1477=LRG_870t1:c.4431G>A, NM_001127487.1:c.4431G>A, NM_001458.4:c.4431G>A, XM_005250236.1:c.4431G>ABenign03/01/2016 
39FLNCEx26NM_001458.4:c.4488T>Cp.Asn1496= | p.N1496=LRG_870t1:c.4488T>C, NM_001127487.1:c.4488T>C, NM_001458.4:c.4488T>C, XM_005250236.1:c.4488T>CVOUS04/19/2017
40FLNCEx26NM_001458.4:c.4553A>Gp.Lys1518Arg | p.K1518RNM_001127487.1:c.4553A>G, NM_001458.4:c.4553A>G, XM_005250236.1:c.4553A>GVOUS10/27/2014
41FLNCEx26NM_001458.4:c.4576C>Tp.Arg1526Cys | p.R1526CLRG_870t1:c.4576C>T, NM_001127487.1:c.4576C>T, NM_001458.4:c.4576C>T, XM_005250236.1:c.4576C>TVOUS08/15/2016
42FLNCEx27NM_001458.4:c.4737+9_4737+10delCTNM_001127487.1:c.4737+9_4737+10delCT, NM_001458.4:c.4737+9_4737+10delCT, XM_005250236.1:c.4737+9_4737+10delCTBenign12/17/2014 
43FLNCEx28NM_001458.4:c.4880G>Ap.Arg1627His | p.R1627HLRG_870t1:c.4880G>A, NM_001127487.1:c.4880G>A, NM_001458.4:c.4880G>A, XM_005250236.1:c.4880G>AVOUS08/11/2016
44FLNCEx29NM_001458.4:c.4928-7T>CNM_001127487.1:c.4928-7T>C, NM_001458.4:c.4928-7T>C, XM_005250236.1:c.4928-157T>CBenign11/14/2014 
45FLNCEx29NM_001458.4:c.4947C>Tp.Gly1649= | p.G1649=LRG_870t1:c.4947C>T, NM_001127487.1:c.4947C>T, NM_001458.4:c.4947C>T, XM_005250236.1:c.4928-131C>TLikely benign08/11/2016 
46FLNCEx30NM_001458.4:c.4952G>Ap.Gly1651Asp | p.G1651DLRG_870t1:c.4952G>A, NM_001127487.1:c.4952G>A, NM_001458.4:c.4952G>A, XM_005250236.1:c.4928G>AVOUS11/30/2016
47FLNCEx30NM_001458.4:c.5042C>Gp.Thr1681Arg | p.T1681RNM_001127487.1:c.5042C>G, NM_001458.4:c.5042C>G, XM_005250236.1:c.5018C>GBenign05/14/2015 
48FLNCEx32NM_001458.4:c.5375C>Tp.Ala1792Val | p.A1792VNM_001127487.1:c.5276C>T, NM_001458.4:c.5375C>T, XM_005250236.1:c.5252C>TVOUS11/14/2014
49FLNCEx33NM_001458.4:c.5418G>Ap.Ser1806= | p.S1806=LRG_870t1:c.5418G>A, NM_001127487.1:c.5319G>A, NM_001458.4:c.5418G>A, XM_005250236.1:c.5295G>AVOUS08/25/2016
50FLNCEx34NM_001458.4:c.5578C>Tp.Arg1860Cys | p.R1860CNM_001127487.1:c.5479C>T, NM_001458.4:c.5578C>T, XM_005250236.1:c.5455C>TBenign10/27/2014 
51FLNCEx34NM_001458.4:c.5592C>Tp.Ala1864= | p.A1864=NM_001127487.1:c.5493C>T, NM_001458.4:c.5592C>T, XM_005250236.1:c.5469C>TBenign12/23/2014 
52FLNCEx34NM_001458.4:c.5644A>Gp.Ile1882Val | p.I1882VLRG_870t1:c.5644A>G, NM_001127487.1:c.5545A>G, NM_001458.4:c.5644A>G, XM_005250236.1:c.5521A>GVOUS04/07/2016
53FLNCEx35NM_001458.4:c.5763T>Cp.Thr1921= | p.T1921=NM_001127487.1:c.5664T>C, NM_001458.4:c.5763T>C, XM_005250236.1:c.5640T>CBenign01/29/2016 
54FLNCEx35NM_001458.4:c.5764G>Ap.Ala1922Thr | p.A1922TNM_001127487.1:c.5665G>A, NM_001458.4:c.5764G>A, XM_005250236.1:c.5641G>ABenign01/29/2016 
55FLNCEx37NM_001458.4:c.6005-9T>CNM_001127487.1:c.5906-9T>C, NM_001458.4:c.6005-9T>C, XM_005250236.1:c.5882-9T>CBenign12/23/2014 
56FLNCEx38NM_001458.4:c.6309C>Tp.Thr2103= | p.T2103=NM_001127487.1:c.6210C>T, NM_001458.4:c.6309C>T, XM_005250236.1:c.6186C>TLikely benign04/09/2015 
57FLNCEx39NM_001458.4:c.6405G>Ap.Lys2135= | p.K2135=LRG_870t1:c.6405G>A, NM_001127487.1:c.6306G>A, NM_001458.4:c.6405G>A, XM_005250236.1:c.6282G>AVOUS06/08/2016
58FLNCEx39NM_001458.4:c.6441C>Tp.Ile2147= | p.I2147=NM_001127487.1:c.6342C>T, NM_001458.4:c.6441C>T, XM_005250236.1:c.6318C>TVOUS02/26/2015
59FLNCEx39NM_001458.4:c.6459C>Tp.Thr2153= | p.T2153=NM_001127487.1:c.6360C>T, NM_001458.4:c.6459C>T, XM_005250236.1:c.6336C>TBenign12/23/2014 
60FLNCEx40NM_001458.4:c.6485-8C>TLRG_870t1:c.6485-8C>T, NM_001127487.1:c.6386-8C>T, NM_001458.4:c.6485-8C>T, XM_005250236.1:c.6361+129C>TVOUS02/23/2017
61FLNCEx40NM_001458.4:c.6714C>Tp.Thr2238= | p.T2238=LRG_870t1:c.6714C>T, NM_001127487.1:c.6615C>T, NM_001458.4:c.6714C>T, XM_005250236.1:c.6362-210C>TVOUS01/09/2017
62FLNCEx41NM_001458.4:c.6808G>Ap.Glu2270Lys | p.E2270KLRG_870t1:c.6808G>A, NM_001127487.1:c.6709G>A, NM_001458.4:c.6808G>A, XM_005250236.1:c.6442G>AVOUS08/10/2017
63FLNCEx41NM_001458.4:c.6991G>Ap.Val2331Met | p.V2331MLRG_870t1:c.6991G>A, NM_001127487.1:c.6892G>A, NM_001458.4:c.6991G>A, XM_005250236.1:c.6625G>ALikely benign10/30/2017 
64FLNCEx42NM_001458.4:c.6998-5C>TNM_001127487.1:c.6899-5C>T, NM_001458.4:c.6998-5C>T, XM_005250236.1:c.6632-5C>TVOUS12/16/2014
65FLNCEx42NM_001458.4:c.7091G>Ap.Arg2364His | p.R2364HNM_001127487.1:c.6992G>A, NM_001458.4:c.7091G>A, XM_005250236.1:c.6725G>ABenign03/02/2015 
66FLNCEx44NM_001458.4:c.7289C>Tp.Ala2430Val | p.A2430VNM_001127487.1:c.7190C>T, NM_001458.4:c.7289C>T, XM_005250236.1:c.6923C>TVOUS02/17/2015
67FLNCEx44NM_001458.4:c.7291G>Ap.Val2431Met | p.V2431MLRG_870t1:c.7291G>A, NM_001127487.1:c.7192G>A, NM_001458.4:c.7291G>A, XM_005250236.1:c.6925G>AVOUS09/30/2016
68FLNCEx44NM_001458.4:c.7382G>Ap.Ser2461Asn | p.S2461NNM_001127487.1:c.7283G>A, NM_001458.4:c.7382G>A, XM_005250236.1:c.7016G>AVOUS08/25/2015
69FLNCEx45NM_001458.4:c.7400G>Ap.Arg2467His | p.R2467HLRG_870t1:c.7400G>A, NM_001127487.1:c.7301G>A, NM_001458.4:c.7400G>A, XM_005250236.1:c.7034G>AVOUS02/03/2020
70FLNCEx47NM_001458.4:c.7862G>Ap.Arg2621Gln | p.R2621QNM_001127487.1:c.7763G>A, NM_001198909.1:c.-4816G>A, NM_001458.4:c.7862G>A, NM_004231.2:c.-4816G>A, NM_004231.3:c.-4816G>A, XM_005250236.1:c.7496G>AVOUS01/20/2015
71FLNCEx48NM_001458.4:c.8003T>Cp.Met2668Thr | p.M2668TLRG_870t1:c.8003T>C, NM_001127487.1:c.7904T>C, NM_001198909.1:c.-4557T>C, NM_001458.4:c.8003T>C, NM_004231.2:c.-4557T>C, NM_004231.3:c.-4557T>C, XM_005250236.1:c.7637T>CVOUS01/02/2017
72FLNCEx48NM_001458.4:c.8070G>Tp.Arg2690= | p.R2690=LRG_870t1:c.8070G>T, NM_001127487.1:c.7971G>T, NM_001198909.1:c.-4490G>T, NM_001458.4:c.8070G>T, NM_004231.2:c.-4490G>T, NM_004231.3:c.-4490G>T, XM_005250236.1:c.7704G>TVOUS08/26/2016
73FLNCEx48NM_001458.4:c.8118C>Tp.Leu2706= | p.L2706=LRG_870t1:c.8118C>T, NM_001127487.1:c.8019C>T, NM_001198909.1:c.-4442C>T, NM_001458.4:c.8118C>T, NM_004231.2:c.-4442C>T, NM_004231.3:c.-4442C>T, XM_005250236.1:c.7752C>TBenign01/14/2021 
74FLNCEx48NM_001458.4:c.8121T>Cp.Ile2707= | p.I2707=LRG_870t1:c.8121T>C, NM_001127487.1:c.8022T>C, NM_001198909.1:c.-4439T>C, NM_001458.4:c.8121T>C, NM_004231.2:c.-4439T>C, NM_004231.3:c.-4439T>C, XM_005250236.1:c.7755T>CBenign01/14/2021 

* 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.