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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  
1FBN1Ex2NM_000138.4:c.59A>Gp.Tyr20Cys | p.Y20CLRG_778t1:c.59A>G, NM_000138.3:c.59A>G, NM_000138.4:c.59A>G, XR_109187.1:n.-1946T>CVOUS01/09/2015
2FBN1Ex2NM_000138.4:c.75G>Ap.Ala25= | p.A25=NM_000138.3:c.75G>A, NM_000138.4:c.75G>A, XR_109187.1:n.-1962C>TBenign07/15/2015 
3FBN1Ex2NM_000138.4:c.124G>Cp.Ala42Pro | p.A42PLRG_778t1:c.124G>C, NM_000138.3:c.124G>C, NM_000138.4:c.124G>C, XR_109187.1:n.-2011C>GVOUS10/04/2017
4FBN1Ex2NM_000138.4:c.139G>Ap.Gly47Ser | p.G47SLRG_778t1:c.139G>A, NM_000138.3:c.139G>A, NM_000138.4:c.139G>A, XR_109187.1:n.-2026C>TVOUS07/07/2016
5FBN1Ex3NM_000138.4:c.247+10T>CVOUS08/19/2020
6FBN1Ex4NM_000138.4:c.306C>Tp.Cys102= | p.C102=LRG_778t1:c.306C>T, NM_000138.3:c.306C>T, NM_000138.4:c.306C>TBenign06/30/2016 
7FBN1Ex5NM_000138.4:c.393C>Tp.Asp131= | p.D131=LRG_778t1:c.393C>T, NM_000138.3:c.393C>T, NM_000138.4:c.393C>TVOUS10/24/2018
8FBN1Ex6NM_000138.4:c.510C>Tp.Tyr170= | p.Y170=LRG_778t1:c.510C>T, NM_000138.3:c.510C>T, NM_000138.4:c.510C>TVOUS07/07/2016
9FBN1Ex8NM_000138.4:c.783T>Cp.Asn261= | p.N261=LRG_778t1:c.783T>C, NM_000138.3:c.783T>C, NM_000138.4:c.783T>CLikely benign07/07/2016 
10FBN1Ex9NM_000138.4:c.980G>Cp.Arg327Thr | p.R327TLRG_778t1:c.980G>C, NM_000138.3:c.980G>C, NM_000138.4:c.980G>CVOUS11/25/2015
11FBN1Ex9NM_000138.4:c.986T>Cp.Ile329Thr | p.I329TLRG_778t1:c.986T>C, NM_000138.3:c.986T>C, NM_000138.4:c.986T>CBenign12/03/2014 
12FBN1Ex11NM_000138.4:c.1265G>Ap.Gly422Glu | p.G422ELRG_778t1:c.1265G>A, NM_000138.3:c.1265G>A, NM_000138.4:c.1265G>AVOUS01/13/2017
13FBN1Ex13NM_000138.4:c.1481G>Cp.Cys494Ser | p.C494SLRG_778t1:c.1481G>C, NM_000138.3:c.1481G>C, NM_000138.4:c.1481G>CVOUS06/23/2017
14FBN1Ex13NM_000138.4:c.1498G>Cp.Ala500Pro | p.A500PLRG_778t1:c.1498G>C, NM_000138.3:c.1498G>C, NM_000138.4:c.1498G>CVOUS07/28/2016
15FBN1Ex13NM_000138.4:c.1566A>Tp.Thr522= | p.T522=NM_000138.3:c.1566A>T, NM_000138.4:c.1566A>TVOUS12/04/2015
16FBN1Ex15NM_000138.4:c.1746C>Tp.Cys582= | p.C582=LRG_778t1:c.1746C>T, NM_000138.3:c.1746C>T, NM_000138.4:c.1746C>TBenign07/12/2016 
17FBN1Ex16NM_000138.4:c.1875T>Cp.Asn625= | p.N625=NM_000138.3:c.1875T>C, NM_000138.4:c.1875T>CBenign11/28/2014 
18FBN1Ex16NM_000138.4:c.1960+30G>ALRG_778t1:c.1960+30G>A, NM_000138.3:c.1960+30G>A, NM_000138.4:c.1960+30G>ABenign07/04/2018 
19FBN1Ex18NM_000138.4:c.2114-3C>GNM_000138.3:c.2114-3C>G, NM_000138.4:c.2114-3C>GVOUS10/28/2015
20FBN1Ex18NM_000138.4:c.2148A>Gp.Gly716= | p.G716=LRG_778t1:c.2148A>G, NM_000138.3:c.2148A>G, NM_000138.4:c.2148A>GVOUS02/14/2017
21FBN1Ex21NM_000138.4:c.2449A>Gp.Ile817Val | p.I817VLRG_778t1:c.2449A>G, NM_000138.3:c.2449A>G, NM_000138.4:c.2449A>GVOUS10/30/2018
22FBN1Ex23NM_000138.4:c.2678-15C>TBenign05/16/2019 
23FBN1Ex25NM_000138.4:c.2892C>Tp.Asp964= | p.D964=LRG_778t1:c.2892C>T, NM_000138.3:c.2892C>T, NM_000138.4:c.2892C>TLikely benign02/14/2018 
24FBN1Ex25NM_000138.4:c.2920C>Tp.Arg974Cys | p.R974CLRG_778t1:c.2920C>T, NM_000138.3:c.2920C>T, NM_000138.4:c.2920C>TPathogenic12/28/2016 
25FBN1Ex25NM_000138.4:c.2930T>Gp.Met977Arg | p.M977RNM_000138.3:c.2930T>G, NM_000138.4:c.2930T>GVOUS12/29/2014
26FBN1Ex25NM_000138.4:c.2956G>Ap.Ala986Thr | p.A986TLRG_778t1:c.2956G>A, NM_000138.3:c.2956G>A, NM_000138.4:c.2956G>ALikely benign08/15/2016 
27FBN1Ex25NM_000138.4:c.3037G>Ap.Gly1013Arg | p.G1013RLRG_778t1:c.3037G>A, NM_000138.3:c.3037G>A, NM_000138.4:c.3037G>APathogenic06/30/2014 
28FBN1Ex25NM_000138.4:c.3082+8delGNM_000138.3:c.3082+8delG, NM_000138.4:c.3082+8delGBenign11/06/2015 
29FBN1Ex27NM_000138.4:c.3294C>TLRG_778t1:c.3294C>T, NM_000138.3:c.3294C>T, NM_000138.4:c.3294C>TBenign12/04/2014 
30FBN1Ex28NM_000138.4:c.3442C>Gp.Pro1148Ala | p.P1148ALRG_778t1:c.3442C>G, NM_000138.3:c.3442C>G, NM_000138.4:c.3442C>GBenign06/26/2014 
31FBN1Ex28NM_000138.4:c.3463+3A>GLRG_778t1:c.3463+3A>G, NM_000138.3:c.3463+3A>G, NM_000138.4:c.3463+3A>GBenign02/14/2018 
32FBN1Ex29NM_000138.4:c.3464-6C>TNM_000138.3:c.3464-6C>T, NM_000138.4:c.3464-6C>TVOUS06/08/2015
33FBN1Ex29NM_000138.4:c.3464-5G>ANM_000138.3:c.3464-5G>A, NM_000138.4:c.3464-5G>ABenign11/25/2014 
34FBN1Ex29NM_000138.4:c.3509G>Ap.Arg1170His | p.R1170HLRG_778t1:c.3509G>A, NM_000138.3:c.3509G>A, NM_000138.4:c.3509G>AVOUS06/06/2016
35FBN1Ex30NM_000138.4:c.3677G>Tp.Gly1226Val | p.G1226VLRG_778t1:c.3677G>T, NM_000138.3:c.3677G>T, NM_000138.4:c.3677G>TLikely pathogenic05/07/2021 
36FBN1Ex34NM_000138.4:c.4172G>Tp.Cys1391Phe | p.C1391FLRG_778t1:c.4172G>T, NM_000138.3:c.4172G>T, NM_000138.4:c.4172G>TVOUS02/02/2017
37FBN1Ex35NM_000138.4:c.4270C>Gp.Pro1424Ala | p.P1424ALRG_778t1:c.4270C>G, NM_000138.3:c.4270C>G, NM_000138.4:c.4270C>GVOUS10/20/2016
38FBN1Ex36NM_000138.4:c.4337-2A>GPathogenic05/07/2021 
39FBN1Ex36NM_000138.4:c.4358C>Tp.Pro1453Leu | p.P1453LLRG_778t1:c.4358C>T, NM_000138.3:c.4358C>T, NM_000138.4:c.4358C>TVOUS05/05/2017
40FBN1Ex36NM_000138.4:c.4441A>Gp.Ser1481Gly | p.S1481GNM_000138.3:c.4441A>G, NM_000138.4:c.4441A>GVOUS09/03/2014
41FBN1Ex36NM_000138.4:c.4443C>Tp.Ser1481= | p.S1481=LRG_778t1:c.4443C>T, NM_000138.3:c.4443C>T, NM_000138.4:c.4443C>TVOUS05/02/2016
42FBN1Ex38NM_000138.4:c.4588C>Tp.Arg1530Cys | p.R1530CLRG_778t1:c.4588C>T, NM_000138.3:c.4588C>T, NM_000138.4:c.4588C>TPathogenic06/19/2015 
43FBN1Ex38NM_000138.4:c.4746A>Gp.Thr1582= | p.T1582=VOUS10/02/2014
44FBN1Ex39NM_000138.4:c.4750G>Ap.Glu1584Lys | p.E1584KLRG_778t1:c.4750G>A, NM_000138.3:c.4750G>A, NM_000138.4:c.4750G>AVOUS08/30/2019
45FBN1Ex40NM_000138.4:c.4905C>Gp.Thr1635= | p.T1635=LRG_778t1:c.4905C>G, NM_000138.3:c.4905C>G, NM_000138.4:c.4905C>GBenign07/12/2016 
46FBN1Ex41NM_000138.4:c.4998C>Tp.Thr1666= | p.T1666=NM_000138.3:c.4998C>T, NM_000138.4:c.4998C>TVOUS06/22/2015
47FBN1Ex43NM_000138.4:c.5284G>Ap.Gly1762Ser | p.G1762SLRG_778t1:c.5284G>A, NM_000138.3:c.5284G>A, NM_000138.4:c.5284G>APathogenic09/01/2016 
48FBN1Ex44NM_000138.4:c.5343G>Ap.Val1781= | p.V1781=NM_000138.3:c.5343G>A, NM_000138.4:c.5343G>ABenign01/02/2015 
49FBN1Ex44NM_000138.4:c.5358T>Cp.Val1786= | p.V1786=LRG_778t1:c.5358T>C, NM_000138.3:c.5358T>C, NM_000138.4:c.5358T>CVOUS01/12/2018
50FBN1Ex45NM_000138.4:c.5423-4G>ALRG_778t1:c.5423-4G>A, NM_000138.3:c.5423-4G>A, NM_000138.4:c.5423-4G>AVOUS05/02/2016
51FBN1Ex45NM_000138.4:c.5516A>Tp.Tyr1839Phe | p.Y1839FLRG_778t1:c.5516A>T, NM_000138.3:c.5516A>T, NM_000138.4:c.5516A>TVOUS08/19/2021
52FBN1Ex46NM_000138.4:c.5593_5594dupTGLRG_778t1:c.5594_5595insTG, NM_000138.3:c.5594_5595insTG, NM_000138.4:c.5594_5595insTGPathogenic04/21/2016 
53FBN1Ex49NM_000138.4:c.5964C>Tp.Thr1988= | p.T1988=NM_000138.3:c.5964C>T, NM_000138.4:c.5964C>TVOUS05/22/2015
54FBN1Ex50NM_000138.4:c.6043G>Ap.Asp2015Asn | p.D2015NLRG_778t1:c.6043G>A, NM_000138.3:c.6043G>A, NM_000138.4:c.6043G>AVOUS08/30/2016
55FBN1Ex50NM_000138.4:c.6073G>Tp.Ala2025Ser | p.A2025SLRG_778t1:c.6073G>T, NM_000138.3:c.6073G>T, NM_000138.4:c.6073G>TBenign09/02/2016 
56FBN1Ex51NM_000138.4:c.6189G>Ap.Ala2063= | p.A2063=NM_000138.3:c.6189G>A, NM_000138.4:c.6189G>AVOUS05/19/2015
57FBN1Ex53NM_000138.4:c.6444delCp.Tyr2149Ilefs*11 | p.Y2149IfsX11LRG_778t1:c.6444delC, NM_000138.3:c.6444delC, NM_000138.4:c.6444delCPathogenic07/23/2019 
58FBN1Ex54NM_000138.4:c.6594C>Tp.Pro2198= | p.P2198=LRG_778t1:c.6594C>T, NM_000138.3:c.6594C>T, NM_000138.4:c.6594C>TBenign07/12/2016 
59FBN1Ex55NM_000138.4:c.6681A>Cp.Ser2227= | p.S2227=LRG_778t1:c.6681A>C, NM_000138.3:c.6681A>C, NM_000138.4:c.6681A>CLikely benign07/07/2016 
60FBN1Ex55NM_000138.4:c.6682dupTLRG_778t1:c.6682_6683insT, NM_000138.3:c.6682_6683insT, NM_000138.4:c.6682_6683insTPathogenic09/07/2016 
61FBN1Ex55NM_000138.4:c.6700G>Ap.Val2234Met | p.V2234MLRG_778t1:c.6700G>A, NM_000138.3:c.6700G>A, NM_000138.4:c.6700G>AVOUS01/11/2017
62FBN1Ex55NM_000138.4:c.6724C>Tp.Arg2242Cys | p.R2242CLRG_778t1:c.6724C>T, NM_000138.3:c.6724C>T, NM_000138.4:c.6724C>TVOUS11/25/2019
63FBN1Ex56NM_000138.4:c.6832C>Tp.Pro2278Ser | p.P2278SLRG_778t1:c.6832C>T, NM_000138.3:c.6832C>T, NM_000138.4:c.6832C>TBenign03/13/2017 
64FBN1Ex56NM_000138.4:c.6837G>Ap.Gly2279= | p.G2279=LRG_778t1:c.6837G>A, NM_000138.3:c.6837G>A, NM_000138.4:c.6837G>ALikely benign10/27/2015 
65FBN1Ex56NM_000138.4:c.6852T>Cp.Pro2284= | p.P2284=LRG_778t1:c.6852T>C, NM_000138.3:c.6852T>C, NM_000138.4:c.6852T>CVOUS11/11/2016
66FBN1Ex58NM_000138.4:c.7016_7031dupGCTTCACAGAGGTGCTp.Gln2345Leufs*27 | p.Q2345LfsX27LRG_778t1:c.7016_7031dupGCTTCACAGAGGTGCT, NM_000138.3:c.7016_7031dupGCTTCACAGAGGTGCT, NM_000138.4:c.7016_7031dupGCTTCACAGAGGTGCTPathogenic11/30/2017 
67FBN1Ex58NM_000138.4:c.7057A>Gp.Ser2353Gly | p.S2353GNM_000138.3:c.7057A>G, NM_000138.4:c.7057A>GVOUS07/13/2015
68FBN1Ex60NM_000138.4:c.7346A>Gp.Asn2449Ser | p.N2449SLRG_778t1:c.7346A>G, NM_000138.3:c.7346A>G, NM_000138.4:c.7346A>GVOUS09/24/2019
69FBN1Ex62NM_000138.4:c.7571-7C>ALRG_778t1:c.7571-7C>A, NM_000138.3:c.7571-7C>A, NM_000138.4:c.7571-7C>AVOUS11/01/2018
70FBN1Ex63NM_000138.4:c.7776C>Tp.Cys2592= | p.C2592=NM_000138.3:c.7776C>T, NM_000138.4:c.7776C>TVOUS06/09/2015
71FBN1Ex64NM_000138.4:c.7820-3C>ALRG_778t1:c.7820-3C>A, NM_000138.3:c.7820-3C>A, NM_000138.4:c.7820-3C>AVOUS09/18/2017
72FBN1Ex64NM_000138.4:c.7846A>Gp.Ile2616Val | p.I2616VLRG_778t1:c.7846A>G, NM_000138.3:c.7846A>G, NM_000138.4:c.7846A>GVOUS10/25/2017
73FBN1Ex64NM_000138.4:c.7902C>Tp.Pro2634= | p.P2634=LRG_778t1:c.7902C>T, NM_000138.3:c.7902C>T, NM_000138.4:c.7902C>TVOUS03/31/2016
74FBN1Ex64NM_000138.4:c.7950T>Cp.Asn2650= | p.N2650=LRG_778t1:c.7950T>C, NM_000138.3:c.7950T>C, NM_000138.4:c.7950T>CLikely benign09/25/2015 
75FBN1Ex64NM_000138.4:c.7964C>Tp.Ala2655Val | p.A2655VNM_000138.3:c.7964C>T, NM_000138.4:c.7964C>TVOUS12/12/2014
76FBN1Ex65NM_000138.4:c.8176C>Tp.Arg2726Trp | p.R2726WLRG_778t1:c.8176C>T, NM_000138.3:c.8176C>T, NM_000138.4:c.8176C>TVOUS08/31/2016
77FBN1Ex65NM_000138.4:c.8179G>Ap.Gly2727Ser | p.G2727SLRG_778t1:c.8179G>A, NM_000138.3:c.8179G>A, NM_000138.4:c.8179G>AVOUS11/22/2016
78FBN1Ex66NM_000138.4:c.8283A>Tp.Thr2761= | p.T2761=NM_000138.3:c.8283A>T, NM_000138.4:c.8283A>TBenign11/06/2015 
79FBN1Ex66NM_000138.4:c.8326C>Tp.Arg2776* | p.R2776XLRG_778t1:c.8326C>T, NM_000138.3:c.8326C>T, NM_000138.4:c.8326C>TPathogenic03/01/2016 
80FBN1Ex66NM_000138.4:c.8364G>Ap.Thr2788= | p.T2788=LRG_778t1:c.8364G>A, NM_000138.3:c.8364G>A, NM_000138.4:c.8364G>AVOUS07/11/2017
81FBN1Ex66NM_000138.4:c.8449T>Gp.Phe2817Val | p.F2817VLRG_778t1:c.8449T>G, NM_000138.3:c.8449T>G, NM_000138.4:c.8449T>GVOUS08/26/2016
82FBN1Ex66NM_000138.4:c.8502T>Cp.Thr2834= | p.T2834=LRG_778t1:c.8502T>C, NM_000138.3:c.8502T>C, NM_000138.4:c.8502T>CLikely benign12/16/2016 
83FBN1Ex66NM_000138.4:c.8511T>Cp.Tyr2837= | p.Y2837=LRG_778t1:c.8511T>C, NM_000138.3:c.8511T>C, NM_000138.4:c.8511T>CVOUS11/02/2017

* 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.