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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  
1FLCNEx4NM_144997.5:c.50G>Cp.Arg17Pro | p.R17PNM_144606.5:c.50G>C, NM_144997.5:c.50G>CVOUS06/14/2013
2FLCNEx4NM_144997.5:c.83dupCPathogenic08/27/2012 
3FLCNEx4NM_144997.5:c.235_238delTCGGc.733delTCGGPathogenic** 
4FLCNEx4NM_144997.5:c.247G>Tp.Glu83* | p.E83XPathogenic** 
5FLCNEx5NM_144997.5:c.250-2A>GPathogenic08/02/2012 
6FLCNEx5NM_144997.5:c.296delAPathogenic12/26/2012 
7FLCNEx5NM_144997.5:c.319_320delGTinsCACPathogenic12/18/2012 
8FLCNEx5NM_144997.5:c.346C>Tp.Gln116* | p.Q116XNM_144606.5:c.346C>T, NM_144997.5:c.346C>TPathogenic08/07/2013 
9FLCNEx6NM_144997.5:c.397-21G>CVOUS**
10FLCNEx6NM_144997.5:c.397-14C>TLRG_325t1:c.397-14C>T, NM_144606.5:c.397-14C>T, NM_144997.5:c.397-14C>T, XM_005256514.1:c.397-14C>T, XM_005256515.1:c.397-14C>T, XM_005256516.1:c.397-14C>TBenign10/25/2018 
11FLCNEx6NM_144997.5:c.397-13G>ANM_144606.5:c.397-13G>A, NM_144997.5:c.397-13G>ABenign06/18/2013 
12FLCNEx6NM_144997.5:c.610_611delGCinsTAPathogenic01/31/2013 
13FLCNEx6NM_144997.5:c.618+21C>GVOUS**
14FLCNEx7NM_144997.5:c.726A>Tp.Thr242= | p.T242=NM_144606.5:c.726A>T, NM_144997.5:c.726A>TBenign04/30/2013 
15FLCNEx8NM_144997.5:c.792_798dupGTGTGGCPathogenic** 
16FLCNEx8NM_144997.5:c.828_829dupTGNM_144606.5:c.828_829dup, NM_144997.5:c.828_829dupPathogenic07/08/2013 
17FLCNEx8NM_144997.5:c.867C>Tp.Leu289= | p.L289=LRG_325t1:c.867C>T, NM_144606.5:c.867C>T, NM_144997.5:c.867C>T, XM_005256514.1:c.867C>T, XM_005256515.1:c.867C>T, XM_005256516.1:c.867C>T, XM_005256517.1:c.867C>T, XR_243549.1:n.2015C>T, XR_243599.1:n.*3270G>AVOUS04/23/2019
18FLCNEx8NM_144997.5:c.871+36G>ABenign** 
19FLCNEx9NM_144997.5:c.872-13A>GLRG_325t1:c.872-13A>G, NM_144606.5:c.*2157A>G, NM_144997.5:c.872-13A>G, XM_005256514.1:c.872-13A>G, XM_005256515.1:c.872-13A>G, XM_005256516.1:c.872-13A>G, XM_005256517.1:c.*2053A>G, XR_243549.1:n.2020-13A>G, XR_243599.1:n.*951T>CBenign02/01/2017 
20FLCNEx9NM_144997.5:c.890_893delAAAGNM_144606.5:c.*2188_*2191delAAAG, NM_144997.5:c.890_893delAAAG, XM_005256514.1:c.890_893delAAAG, XM_005256515.1:c.890_893delAAAG, XM_005256516.1:c.890_893delAAAG, XM_005256517.1:c.*2084_*2087delAAAG, XR_243549.1:n.2038_2041delAAAG, XR_243599.1:n.*917_*920delCTTTPathogenic04/03/2013 
21FLCNEx9NM_144997.5:c.927_954dupAGCCCCTGTGTTGCCAGAGAGTACAGAANM_144606.5:c.*2252_*2253insAGCCCCTGTGTTGCCAGAGAGTACAGAA, NM_144997.5:c.954_955insAGCCCCTGTGTTGCCAGAGAGTACAGAA, XM_005256514.1:c.954_955insAGCCCCTGTGTTGCCAGAGAGTACAGAA, XM_005256515.1:c.954_955insAGCCCCTGTGTTGCCAGAGAGTACAGAA, XM_005256516.1:c.954_955insAGCCCCTGTGTTGCCAGAGAGTACAGAA, XM_005256517.1:c.*2148_*2149insAGCCCCTGTGTTGCCAGAGAGTACAGAA, XR_243549.1:n.2102_2103insAGCCCCTGTGTTGCCAGAGAGTACAGAA, XR_243599.1:n.*855_*856insTTCTGTACTCTCTGGCAACACAGGGGCTPathogenic07/10/2015 
22FLCNEx9NM_144997.5:c.987delCPathogenic** 
23FLCNEx9NM_144997.5:c.1060C>Tp.Gln354* | p.Q354XPathogenic12/27/2012 
24FLCNEx9NM_144997.5:c.1062+6C>TLRG_325t1:c.1062+6C>T, NM_144606.5:c.*2366C>T, NM_144997.5:c.1062+6C>T, XM_005256514.1:c.1062+6C>T, XM_005256515.1:c.1062+6C>T, XM_005256516.1:c.1062+6C>T, XR_243599.1:n.*742G>ABenign10/25/2018 
25FLCNEx9NM_144997.5:c.1062+47G>ALRG_325t1:c.1062+47G>A, NM_144606.5:c.*2407G>A, NM_144997.5:c.1062+47G>A, XM_005256514.1:c.1062+47G>A, XM_005256515.1:c.1062+47G>A, XM_005256516.1:c.1062+47G>A, XM_005256517.1:c.*2303G>A, XR_243549.1:n.2210+47G>A, XR_243599.1:n.*701C>TBenign** 
26FLCNEx10NM_144997.5:c.1117C>Tp.Gln373* | p.Q373XNM_144606.5:c.*4251C>T, NM_144997.5:c.1117C>TPathogenic07/08/2013 
27FLCNEx10NM_144997.5:c.1149C>Tp.Leu383= | p.L383=VOUS02/13/2013
28FLCNEx10NM_144997.5:c.1160C>Tp.Ala387Val | p.A387VLRG_325t1:c.1160C>T, NM_144606.5:c.*4294C>T, NM_144997.5:c.1160C>T, XM_005256514.1:c.1160C>T, XM_005256515.1:c.1160C>T, XM_005256516.1:c.1160C>T, XM_005256517.1:c.*4190C>T, XR_243549.1:n.2308C>T, XR_243599.1:n.640-405G>AVOUS03/19/2020
29FLCNEx10NM_144997.5:c.1176+30C>TBenign** 
30FLCNEx10NM_144997.5:c.1176+31G>ALRG_325t1:c.1176+31G>A, NM_144606.5:c.*4341G>A, NM_144997.5:c.1176+31G>A, XM_005256514.1:c.1176+31G>A, XM_005256515.1:c.1176+31G>A, XM_005256516.1:c.1176+31G>A, XM_005256517.1:c.*4237G>A, XR_243549.1:n.2324+31G>A, XR_243599.1:n.640-452C>TBenign02/09/2017 
31FLCNEx10NM_144997.5:c.1176+39G>ABenign** 
32FLCNEx11NM_144997.5:c.1177-21G>ALRG_325t1:c.1177-21G>A, NM_144606.5:c.*4855G>A, NM_144997.5:c.1177-21G>A, XM_005256514.1:c.1177-21G>A, XM_005256515.1:c.1177-21G>A, XM_005256516.1:c.1177-21G>A, XM_005256517.1:c.*4751G>A, XR_243549.1:n.2324+545G>A, XR_243599.1:n.640-966C>TLikely benign03/09/2018 
33FLCNEx11NM_144997.5:c.1177-5_1177-3delCTCPathogenic** 
34FLCNEx11NM_144997.5:c.1179delCp.Met394Cysfs*74 | p.M394CfsX74LRG_325t1:c.1179delC, NM_144606.5:c.*4878delC, NM_144997.5:c.1179delC, XM_005256514.1:c.1179delC, XM_005256515.1:c.1179delC, XM_005256516.1:c.1179delC, XR_243599.1:n.640-989delGPathogenic04/19/2013 
35FLCNEx11NM_144997.5:c.1198G>Tp.Val400Phe | p.V400FNM_144606.5:c.*4897G>T, NM_144997.5:c.1198G>T, XM_005256514.1:c.1198G>T, XM_005256515.1:c.1198G>T, XM_005256516.1:c.1198G>T, XR_243599.1:n.640-1008C>AVOUS02/14/2014
36FLCNEx11NM_144997.5:c.1203dupCp.Ile402Hisfs*54 | p.I402HfsX54LRG_325t1:c.1203dupC, NM_144606.5:c.*4902_*4903insC, NM_144606.5:c.*4902dup, NM_144606.5:c.*4902dupC, NM_144997.5:c.1203_1204insC, NM_144997.5:c.1203dup, NM_144997.5:c.1203dupC, XM_005256514.1:c.1203_1204insC, XM_005256514.1:c.1203dupC, XM_005256515.1:c.1203_1204insC, XM_005256515.1:c.1203dupC, XM_005256516.1:c.1203_1204insC, XM_005256516.1:c.1203dupC, XM_005256517.1:c.*4798_*4799insC, XM_005256517.1:c.*4798dupC, XR_243549.1:n.2324+592_2324+593insC, XR_243549.1:n.2324+592dupC, XR_243599.1:n.640-1013dupG, XR_243599.1:n.640-1014_640-1013insGPathogenic09/28/2017 
37FLCNEx11NM_144997.5:c.1233G>Ap.Glu411= | p.E411=NM_144606.5:c.*4932G>A, NM_144997.5:c.1233G>ABenign08/29/2012 
38FLCNEx11NM_144997.5:c.1252delCc.1707delCPathogenic** 
39FLCNEx11NM_144997.5:c.1265C>Tp.Pro422Leu | p.P422LNM_144606.5:c.*4964C>T, NM_144997.5:c.1265C>T, XM_005256514.1:c.1265C>T, XM_005256515.1:c.1265C>T, XM_005256516.1:c.1265C>T, XM_005256517.1:c.*4860C>T, XR_243549.1:n.2324+654C>T, XR_243599.1:n.640-1075G>AVOUS**
40FLCNEx11NM_144997.5:c.1285delCc.1733delC, NM_144606.5:c.*4984delC, NM_144997.5:c.1285delCPathogenic12/20/2013 
41FLCNEx11NM_144997.5:c.1285dupCp.His429Profs*27 | p.H429PfsX27c.1733dupCstop@c.1363, LRG_325t1:c.1285dupC, NM_144606.5:c.*4983_*4984insC, NM_144606.5:c.*4984dup, NM_144606.5:c.*4984dupC, NM_144997.5:c.1284_1285insC, NM_144997.5:c.1285dup, NM_144997.5:c.1285dupC, XM_005256514.1:c.1285dupC, XM_005256515.1:c.1285dupC, XM_005256516.1:c.1285dupC, XM_005256517.1:c.*4880dupC, XR_243549.1:n.2324+674dupC, XR_243599.1:n.640-1095dupGPathogenic05/06/2019 
42FLCNEx12NM_144997.5:c.1301-2A>CPathogenic06/25/2012 
43FLCNEx12NM_144997.5:c.1305delTPathogenic01/22/2013 
44FLCNEx12NM_144997.5:c.1318_1334dupGAGGTCCACGCAGCCGCPathogenic** 
45FLCNEx12NM_144997.5:c.1326C>Tp.His442= | p.H442=LRG_325t1:c.1326C>T, NM_144997.5:c.1326C>T, XM_005256514.1:c.1326C>T, XM_005256515.1:c.1326C>T, XM_005256516.1:c.1326C>T, XR_243549.1:n.2350C>T, XR_243599.1:n.640-2199G>AVOUS04/09/2019
46FLCNEx12NM_144997.5:c.1333G>Ap.Ala445Thr | p.A445TNM_144997.5:c.1333G>A, XM_005256514.1:c.1333G>A, XM_005256515.1:c.1333G>A, XM_005256516.1:c.1333G>A, XR_243549.1:n.2357G>A, XR_243599.1:n.640-2206C>TLikely benign03/28/2019 
47FLCNEx12NM_144997.5:c.1357_1363delGGGTGTGPathogenic** 
48FLCNEx12NM_144997.5:c.1389C>Gp.Tyr463* | p.Y463XPathogenic** 
49FLCNEx13NM_144997.5:c.1433-38A>GBenign** 
50FLCNEx13NM_144997.5:c.1433-2A>GPathogenic11/01/2012 
51FLCNEx13NM_144997.5:c.1440delCPathogenic** 
52FLCNEx13NM_144997.5:c.1522_1524delAAGNM_144997.5:c.1522_1524delAAGPathogenic07/11/2013 
53FLCNEx13NM_144997.5:c.1523A>Gp.Lys508Arg | p.K508RNM_144997.5:c.1523A>G, XM_005256514.1:c.1523A>G, XM_005256515.1:c.1523A>G, XM_005256516.1:c.1523A>G, XR_243549.1:n.2547A>G, XR_243599.1:n.640-2490T>CPathogenic** 
54FLCNEx13NM_144997.5:c.1528_1530delGAGc.1983_1985delGAG, NM_144997.5:c.1528_1530delGAG, XM_005256514.1:c.1528_1530delGAG, XM_005256515.1:c.1528_1530delGAG, XM_005256516.1:c.1528_1530delGAG, XR_243549.1:n.2552_2554delGAG, XR_243599.1:n.640-2497_640-2495delCTCVOUS**
55FLCNEx13NM_144997.5:c.1533G>Ap.Trp511* | p.W511XNM_144997.5:c.1533G>APathogenic10/21/2013 
56FLCNEx13NM_144997.5:c.1538+14T>GBenign03/06/2014 
57FLCNEx14NM_144997.5:c.*17G>TLRG_325t1:c.*17G>T, NM_144997.5:c.*17G>T, XM_005256514.1:c.*17G>T, XM_005256515.1:c.*17G>T, XM_005256516.1:c.*17G>T, XR_243549.1:n.*62G>T, XR_243599.1:n.640-3852C>ABenign** 
58FLCNEx14NM_144997.5:c.1539-16_1539-12delTTTTGVOUS08/22/2012
59FLCNEx14NM_144997.5:c.1584delCp.Glu530Argfs*7 | p.E530RfsX7LRG_325t1:c.1584delC, NM_144997.5:c.1584delC, XM_005256514.1:c.1584delC, XM_005256515.1:c.1584delC, XM_005256516.1:c.1584delC, XR_243549.1:n.2608delC, XR_243599.1:n.640-3679delGLikely pathogenic05/19/2020 
60FLCNEx14NM_144997.5:c.1597C>Tp.Gln533* | p.Q533XLRG_325t1:c.1597C>T, NM_144997.5:c.1597C>T, XM_005256514.1:c.1597C>T, XM_005256515.1:c.1597C>T, XM_005256516.1:c.1597C>T, XR_243549.1:n.2621C>T, XR_243599.1:n.640-3692G>APathogenic01/25/2013 
61FLCNEx14NM_144997.5:c.1657T>Cp.Trp553Arg | p.W553RNM_144997.5:c.1657T>C, XM_005256514.1:c.1657T>C, XM_005256515.1:c.1657T>C, XM_005256516.1:c.1657T>C, XR_243549.1:n.2681T>C, XR_243599.1:n.640-3752A>GVOUS**

* 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.