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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  
1ALMS1Ex1NM_015120.4:c.57G>Ap.Glu19= | p.E19=LRG_741t1:c.57G>A, NM_015120.4:c.57G>AVOUS01/16/2019
2ALMS1Ex1NM_015120.4:c.63_74delGGAGGAGGAGGAp.Glu26_Glu29del | p.E26_E29delLRG_741t1:c.63_74delGGAGGAGGAGGA, NM_015120.4:c.63_74delGGAGGAGGAGGALikely benign02/15/2017 
3ALMS1Ex1NM_015120.4:c.69_71dupGGALRG_741t1:c.71_72insGGA, NM_015120.4:c.71_72insGGALikely benign08/19/2016 
4ALMS1Ex1NM_015120.4:c.69_74delGGAGGAp.Glu28_Glu29del | p.E28_E29delLRG_741t1:c.69_74delGGAGGA, NM_015120.4:c.69_74delGGAGGABenign04/12/2017 
5ALMS1Ex1NM_015120.4:c.69_74dupGGAGGALRG_741t1:c.74_75insGGAGGA, NM_015120.4:c.74_75insGGAGGABenign10/20/2014 
6ALMS1Ex1NM_015120.4:c.72_74dupGGAp.Glu29dup | p.E29dupLRG_741t1:c.72_74dupGGA, LRG_741t1:c.74_75insGGA, NM_015120.4:c.72_74dup, NM_015120.4:c.72_74dupGGA, NM_015120.4:c.74_75insGGALikely benign01/15/2019 
7ALMS1Ex1NM_015120.4:c.72_74delGGAp.Glu29del | p.E29delLRG_741t1:c.72_74delGGA, NM_015120.4:c.72_74delGGALikely benign08/21/2014 
8ALMS1Ex1NM_015120.4:c.100_105dupGCGGCGp.Ala35_Ala36dup | p.A35_A36dupLRG_741t1:c.100_105dupGCGGCG, NM_015120.4:c.100_105dupGCGGCGLikely benign01/22/2019 
9ALMS1Ex1NM_015120.4:c.280C>Tp.Pro94Ser | p.P94SLRG_741t1:c.280C>T, NM_015120.4:c.280C>TVOUS11/30/2017
10ALMS1Ex3NM_015120.4:c.611A>Cp.Glu204Ala | p.E204ALRG_741t1:c.611A>C, NM_015120.4:c.611A>CVOUS03/04/2019
11ALMS1Ex5NM_015120.4:c.813G>Ap.Ser271= | p.S271=LRG_741t1:c.813G>A, NM_015120.4:c.813G>A, XM_005264552.1:c.-464G>AVOUS04/04/2017
12ALMS1Ex5NM_015120.4:c.820A>Cp.Ser274Arg | p.S274RLRG_741t1:c.820A>C, NM_015120.4:c.820A>C, XM_005264552.1:c.-457A>CVOUS09/11/2018
13ALMS1Ex6NM_015120.4:c.1267G>Ap.Val423Ile | p.V423ILRG_741t1:c.1267G>A, NM_015120.4:c.1267G>A, XM_005264552.1:c.-40+1580G>ALikely benign03/14/2019 
14ALMS1Ex8NM_015120.4:c.1453A>Gp.Ile485Val | p.I485VLRG_741t1:c.1453A>G, NM_015120.4:c.1453A>G, XM_005264552.1:c.76A>GVOUS01/29/2015
15ALMS1Ex8NM_015120.4:c.1606C>Gp.Leu536Val | p.L536VLRG_741t1:c.1606C>G, NM_015120.4:c.1606C>G, XM_005264552.1:c.229C>GVOUS04/04/2018
16ALMS1Ex8NM_015120.4:c.1835G>Ap.Gly612Asp | p.G612DNM_015120.4:c.1835G>A, XM_005264552.1:c.458G>AVOUS06/03/2015
17ALMS1Ex8NM_015120.4:c.1938delAp.Leu647Trpfs*27 | p.L647WfsX27LRG_741t1:c.1938delA, NM_015120.4:c.1938delA, XM_005264552.1:c.561delALikely pathogenic12/04/2020 
18ALMS1Ex8NM_015120.4:c.2033A>Gp.Tyr678Cys | p.Y678CLRG_741t1:c.2033A>G, NM_015120.4:c.2033A>G, XM_005264552.1:c.656A>GVOUS06/07/2016
19ALMS1Ex8NM_015120.4:c.2035C>Gp.Arg679Gly | p.R679GLRG_741t1:c.2035C>G, NM_015120.4:c.2035C>G, XM_005264552.1:c.658C>GVOUS04/03/2017
20ALMS1Ex8NM_015120.4:c.2512G>Ap.Ala838Thr | p.A838TLRG_741t1:c.2512G>A, NM_015120.4:c.2512G>A, XM_005264552.1:c.1135G>AVOUS06/30/2017
21ALMS1Ex8NM_015120.4:c.3089C>Gp.Thr1030Ser | p.T1030SNM_015120.4:c.3089C>G, XM_005264552.1:c.1712C>GVOUS02/17/2015
22ALMS1Ex8NM_015120.4:c.3302A>Cp.Lys1101Thr | p.K1101TLRG_741t1:c.3302A>C, NM_015120.4:c.3302A>C, XM_005264552.1:c.1925A>CVOUS07/10/2018
23ALMS1Ex8NM_015120.4:c.3308G>Ap.Gly1103Asp | p.G1103DLRG_741t1:c.3308G>A, NM_015120.4:c.3308G>A, XM_005264552.1:c.1931G>ALikely benign11/08/2018 
24ALMS1Ex8NM_015120.4:c.3372A>Gp.Val1124= | p.V1124=LRG_741t1:c.3372A>G, NM_015120.4:c.3372A>G, XM_005264552.1:c.1995A>GVOUS02/15/2017
25ALMS1Ex8NM_015120.4:c.3429C>Tp.Tyr1143= | p.Y1143=LRG_741t1:c.3429C>T, NM_015120.4:c.3429C>T, XM_005264552.1:c.2052C>TVOUS02/15/2017
26ALMS1Ex8NM_015120.4:c.3569delTp.Ser1190Leufs*75 | p.S1190LfsX75LRG_741t1:c.3569delT, NM_015120.4:c.3569delT, XM_005264552.1:c.2192delTPathogenic09/26/2017 
27ALMS1Ex8NM_015120.4:c.3729G>Ap.Lys1243= | p.K1243=LRG_741t1:c.3729G>A, NM_015120.4:c.3729G>A, XM_005264552.1:c.2352G>ALikely benign03/05/2015 
28ALMS1Ex8NM_015120.4:c.3939A>Cp.Ser1313= | p.S1313=LRG_741t1:c.3939A>C, NM_015120.4:c.3939A>C, XM_005264552.1:c.2562A>CLikely benign01/30/2018 
29ALMS1Ex8NM_015120.4:c.4131T>Cp.Ser1377= | p.S1377=LRG_741t1:c.4131T>C, NM_015120.4:c.4131T>C, XM_005264552.1:c.2754T>CVOUS05/15/2017
30ALMS1Ex8NM_015120.4:c.4341A>Gp.Leu1447= | p.L1447=LRG_741t1:c.4341A>G, NM_015120.4:c.4341A>G, XM_005264552.1:c.2964A>GVOUS07/25/2018
31ALMS1Ex8NM_015120.4:c.4427C>Tp.Ser1476Leu | p.S1476LNM_015120.4:c.4427C>T, XM_005264552.1:c.3050C>TVOUS01/27/2015
32ALMS1Ex8NM_015120.4:c.4792A>Gp.Ile1598Val | p.I1598VLRG_741t1:c.4792A>G, NM_015120.4:c.4792A>G, XM_005264552.1:c.3415A>GVOUS09/20/2018
33ALMS1Ex8NM_015120.4:c.4840T>Gp.Leu1614Val | p.L1614VLRG_741t1:c.4840T>G, NM_015120.4:c.4840T>G, XM_005264552.1:c.3463T>GVOUS03/20/2018
34ALMS1Ex8NM_015120.4:c.4985C>Tp.Thr1662Ile | p.T1662ILRG_741t1:c.4985C>T, NM_015120.4:c.4985C>T, XM_005264552.1:c.3608C>TLikely benign07/31/2018 
35ALMS1Ex8NM_015120.4:c.5053G>Cp.Glu1685Gln | p.E1685QLRG_741t1:c.5053G>C, NM_015120.4:c.5053G>C, XM_005264552.1:c.3676G>CVOUS11/08/2016
36ALMS1Ex8NM_015120.4:c.5139T>Gp.Tyr1713* | p.Y1713XLRG_741t1:c.5139T>G, NM_015120.4:c.5139T>G, XM_005264552.1:c.3762T>GPathogenic03/05/2020 
37ALMS1Ex8NM_015120.4:c.5186A>Gp.Glu1729Gly | p.E1729GLRG_741t1:c.5186A>G, NM_015120.4:c.5186A>G, XM_005264552.1:c.3809A>GVOUS01/30/2018
38ALMS1Ex8NM_015120.4:c.5459C>Tp.Pro1820Leu | p.P1820LLRG_741t1:c.5459C>T, NM_015120.4:c.5459C>T, XM_005264552.1:c.4082C>TVOUS02/02/2018
39ALMS1Ex8NM_015120.4:c.5460G>Ap.Pro1820= | p.P1820=LRG_741t1:c.5460G>A, NM_015120.4:c.5460G>A, XM_005264552.1:c.4083G>ABenign11/19/2014 
40ALMS1Ex8NM_015120.4:c.5653A>Tp.Thr1885Ser | p.T1885SLRG_741t1:c.5653A>T, NM_015120.4:c.5653A>T, XM_005264552.1:c.4276A>TVOUS06/07/2016
41ALMS1Ex8NM_015120.4:c.6196C>Gp.Gln2066Glu | p.Q2066ENM_015120.4:c.6196C>G, XM_005264552.1:c.4819C>GVOUS10/20/2015
42ALMS1Ex8NM_015120.4:c.6208A>Gp.Ile2070Val | p.I2070VLRG_741t1:c.6208A>G, NM_015120.4:c.6208A>G, XM_005264552.1:c.4831A>GVOUS08/17/2018
43ALMS1Ex8NM_015120.4:c.6495A>Cp.Leu2165= | p.L2165=VOUS04/03/2019
44ALMS1Ex8NM_015120.4:c.6534C>Tp.Thr2178= | p.T2178=LRG_741t1:c.6534C>T, NM_015120.4:c.6534C>T, XM_005264552.1:c.5157C>TVOUS12/20/2017
45ALMS1Ex8NM_015120.4:c.6824G>Ap.Arg2275Gln | p.R2275QLRG_741t1:c.6824G>A, NM_015120.4:c.6824G>A, XM_005264552.1:c.5447G>AVOUS12/29/2016
46ALMS1Ex8NM_015120.4:c.6957G>Ap.Gln2319= | p.Q2319=LRG_741t1:c.6957G>A, NM_015120.4:c.6957G>A, XM_005264552.1:c.5580G>AVOUS03/02/2015
47ALMS1Ex8NM_015120.4:c.7010C>Tp.Thr2337Ile | p.T2337ILRG_741t1:c.7010C>T, NM_015120.4:c.7010C>T, XM_005264552.1:c.5633C>TVOUS11/08/2016
48ALMS1Ex8NM_015120.4:c.7131T>Cp.Leu2377= | p.L2377=LRG_741t1:c.7131T>C, NM_015120.4:c.7131T>C, XM_005264552.1:c.5754T>CVOUS03/12/2019
49ALMS1Ex8NM_015120.4:c.7449A>Gp.Lys2483= | p.K2483=LRG_741t1:c.7449A>G, NM_015120.4:c.7449A>G, XM_005264552.1:c.6072A>GVOUS04/12/2019
50ALMS1Ex9NM_015120.4:c.7651delAp.His2551Metfs*41 | p.H2551MfsX41LRG_741t1:c.7651delA, NM_015120.4:c.7651delA, XM_005264552.1:c.6274delAPathogenic03/09/2017 
51ALMS1Ex10NM_015120.4:c.8002C>Tp.Arg2668* | p.R2668XLRG_741t1:c.8002C>T, NM_015120.4:c.8002C>T, XM_005264552.1:c.6625C>TPathogenic08/08/2018 
52ALMS1Ex10NM_015120.4:c.8356A>Gp.Ile2786Val | p.I2786VLRG_741t1:c.8356A>G, NM_015120.4:c.8356A>G, XM_005264552.1:c.6979A>GVOUS02/15/2017
53ALMS1Ex10NM_015120.4:c.8442A>Gp.Ser2814= | p.S2814=LRG_741t1:c.8442A>G, NM_015120.4:c.8442A>G, XM_005264552.1:c.7065A>GVOUS06/18/2015
54ALMS1Ex10NM_015120.4:c.8450C>Tp.Thr2817Ile | p.T2817ILRG_741t1:c.8450C>T, NM_015120.4:c.8450C>T, XM_005264552.1:c.7073C>TVOUS01/10/2019
55ALMS1Ex10NM_015120.4:c.8733T>Gp.Asp2911Glu | p.D2911ELRG_741t1:c.8733T>G, NM_015120.4:c.8733T>G, XM_005264552.1:c.7356T>GVOUS02/27/2017
56ALMS1Ex10NM_015120.4:c.9047A>Gp.Asn3016Ser | p.N3016SLRG_741t1:c.9047A>G, NM_015120.4:c.9047A>G, XM_005264552.1:c.7670A>GVOUS01/22/2019
57ALMS1Ex10NM_015120.4:c.9260A>Gp.His3087Arg | p.H3087RLRG_741t1:c.9260A>G, NM_015120.4:c.9260A>G, XM_005264552.1:c.7883A>GVOUS11/15/2016
58ALMS1Ex10NM_015120.4:c.9386C>Gp.Pro3129Arg | p.P3129RLRG_741t1:c.9386C>G, NM_015120.4:c.9386C>G, XM_005264552.1:c.8009C>GVOUS01/24/2019
59ALMS1Ex11NM_015120.4:c.9586T>Ap.Ser3196Thr | p.S3196TLRG_741t1:c.9586T>A, NM_015120.4:c.9586T>A, XM_005264552.1:c.8209T>AVOUS02/15/2017
60ALMS1Ex12NM_015120.4:c.9819C>Gp.Thr3273= | p.T3273=LRG_741t1:c.9819C>G, NM_015120.4:c.9819C>G, XM_005264552.1:c.8442C>GLikely benign01/04/2019 
61ALMS1Ex12NM_015120.4:c.9883A>Gp.Thr3295Ala | p.T3295ALRG_741t1:c.9883A>G, NM_015120.4:c.9883A>G, XM_005264552.1:c.8506A>GBenign05/15/2017 
62ALMS1Ex13NM_015120.4:c.10075+1insAAAAACCCTTGCAGAATLikely pathogenic12/27/2021 
63ALMS1Ex13NM_015120.4:c.10075+1_10075+5delGTAACinsAAAAACCCTTGCAGAATGAAAALikely pathogenic12/28/2021 
64ALMS1Ex14NM_015120.4:c.10139T>Gp.Ile3380Ser | p.I3380SLRG_741t1:c.10139T>G, NM_015120.4:c.10139T>G, XM_005264552.1:c.8762T>GVOUS11/30/2017
65ALMS1Ex16NM_015120.4:c.10417C>Tp.Arg3473Cys | p.R3473CLRG_741t1:c.10417C>T, NM_015120.4:c.10417C>T, XM_005264552.1:c.9040C>TVOUS04/04/2019
66ALMS1Ex16NM_015120.4:c.10461A>Gp.Val3487= | p.V3487=LRG_741t1:c.10461A>G, NM_015120.4:c.10461A>G, XM_005264552.1:c.9084A>GLikely benign05/10/2017 
67ALMS1Ex16NM_015120.4:c.10625C>Gp.Thr3542Ser | p.T3542SLRG_741t1:c.10625C>G, NM_015120.4:c.10625C>G, XM_005264552.1:c.9248C>GBenign01/25/2017 
68ALMS1Ex16NM_015120.4:c.10748A>Tp.Gln3583Leu | p.Q3583LLRG_741t1:c.10748A>T, NM_015120.4:c.10748A>T, XM_005264552.1:c.9371A>TBenign11/15/2017 
69ALMS1Ex16NM_015120.4:c.10769delCLRG_741t1:c.10769delC, NM_015120.4:c.10769delC, XM_005264552.1:c.9392delCPathogenic11/17/2016 
70ALMS1Ex16NM_015120.4:c.10785G>Cp.Val3595= | p.V3595=LRG_741t1:c.10785G>C, NM_015120.4:c.10785G>C, XM_005264552.1:c.9408G>CLikely benign10/18/2017 
71ALMS1Ex16NM_015120.4:c.11014C>Ap.Leu3672Ile | p.L3672Ic.11020C>A, NM_015120.4:c.11014C>A, p.L3674I, XM_005264552.1:c.9637C>AVOUS08/21/2014
72ALMS1Ex16NM_015120.4:c.11220G>Ap.Glu3740= | p.E3740=LRG_741t1:c.11220G>A, NM_015120.4:c.11220G>A, XM_005264552.1:c.9843G>AVOUS11/09/2018
73ALMS1Ex16NM_015120.4:c.11325C>Tp.His3775= | p.H3775=LRG_741t1:c.11325C>T, NM_015120.4:c.11325C>T, XM_005264552.1:c.9948C>TVOUS11/17/2016
74ALMS1Ex16NM_015120.4:c.11438A>Gp.Asn3813Ser | p.N3813SLRG_741t1:c.11438A>G, NM_015120.4:c.11438A>G, XM_005264552.1:c.10061A>GVOUS03/12/2019
75ALMS1Ex16NM_015120.4:c.11460G>Ap.Glu3820= | p.E3820=LRG_741t1:c.11460G>A, NM_015120.4:c.11460G>A, XM_005264552.1:c.10083G>AVOUS03/12/2018
76ALMS1Ex18NM_015120.4:c.11742C>Tp.Ser3914= | p.S3914=LRG_741t1:c.11742C>T, NM_015120.4:c.11742C>T, XM_005264552.1:c.10365C>TBenign01/18/2017 
77ALMS1Ex18NM_015120.4:c.11818G>Ap.Gly3940Ser | p.G3940SNM_015120.4:c.11818G>A, NM_015120.4:c.11824G>A, XM_005264552.1:c.10441G>ABenign08/27/2014 
78ALMS1Ex19NM_015120.4:c.12033C>Ap.Asp4011Glu | p.D4011ELRG_741t1:c.12033C>A, NM_015120.4:c.12033C>A, XM_005264552.1:c.10656C>AVOUS08/17/2017
79ALMS1Ex22NM_015120.4:c.12429A>Gp.Ser4143= | p.S4143=LRG_741t1:c.12429A>G, NM_015120.4:c.12429A>G, XM_005264552.1:c.11052A>GVOUS02/01/2019
80ALMS1Ex22NM_015120.4:c.12435G>Tp.Arg4145= | p.R4145=LRG_741t1:c.12435G>T, NM_015120.4:c.12435G>T, XM_005264552.1:c.11058G>TVOUS03/27/2018

* 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.