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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  
1ABCA4Ex1NM_000350.2:c.52C>Tp.Arg18Trp | p.R18WNM_000350.2:c.52C>TPathogenic09/28/2016 
2ABCA4Ex2NM_000350.2:c.67-2A>GNM_000350.2:c.67-2A>GPathogenic09/19/2013 
3ABCA4Ex2NM_000350.2:c.123G>Ap.Trp41* | p.W41XNM_000350.2:c.123G>APathogenic02/20/2018 
4ABCA4Ex2NM_000350.2:c.141A>Gp.Pro47= | p.P47=NM_000350.2:c.141A>GBenign09/17/2013 
5ABCA4Ex3NM_000350.2:c.161G>Ap.Cys54Tyr | p.C54YNM_000350.2:c.161G>APathogenic12/05/2016 
6ABCA4Ex4NM_000350.2:c.428C>Tp.Pro143Leu | p.P143LNM_000350.2:c.428C>TLikely pathogenic09/13/2017 
7ABCA4Ex5NM_000350.2:c.455G>Ap.Arg152Gln | p.R152QNM_000350.2:c.455G>ALikely benign12/21/2015 
8ABCA4Ex5NM_000350.2:c.466A>Gp.Ile156Val | p.I156VNM_000350.2:c.466A>GVOUS10/27/2016
9ABCA4Ex5NM_000350.2:c.564delANM_000350.2:c.564delAPathogenic08/25/2016 
10ABCA4Ex6NM_000350.2:c.596C>Tp.Ala199Val | p.A199VNM_000350.2:c.596C>TVOUS05/25/2016
11ABCA4Ex6NM_000350.2:c.618C>Gp.Ser206Arg | p.S206RNM_000350.2:c.618C>GBenign04/19/2016 
12ABCA4Ex6NM_000350.2:c.634C>Tp.Arg212Cys | p.R212CNM_000350.2:c.634C>TPathogenic10/02/2018 
13ABCA4Ex6NM_000350.2:c.635G>Ap.Arg212His | p.R212HNM_000350.2:c.635G>ABenign05/12/2015 
14ABCA4Ex6NM_000350.2:c.666_678delAAAGACGGTGCGCp.Lys223Metfs*14 | p.K223MfsX14NM_000350.2:c.666_678delAAAGACGGTGCGCPathogenic04/18/2017 
15ABCA4Ex6NM_000350.2:c.768G>Tp.Val256= | p.V256=NM_000350.2:c.768G>TPathogenic12/09/2016 
16ABCA4Ex7NM_000350.2:c.769-3C>TNM_000350.2:c.769-3C>TVOUS10/13/2016
17ABCA4Ex7NM_000350.2:c.850_857delATTCAAGANM_000350.2:c.850_857delATTCAAGAPathogenic08/10/2015 
18ABCA4Ex8NM_000350.2:c.870G>Ap.Arg290= | p.R290=NM_000350.2:c.870G>AVOUS02/24/2015
19ABCA4Ex8NM_000350.2:c.872C>Tp.Pro291Leu | p.P291LNM_000350.2:c.872C>TVOUS08/19/2014
20ABCA4Ex8NM_000350.2:c.880C>Tp.Gln294* | p.Q294XNM_000350.2:c.880C>TPathogenic10/10/2014 
21ABCA4Ex8NM_000350.2:c.1015T>Gp.Trp339Gly | p.W339GNM_000350.2:c.1015T>GVOUS03/29/2017
22ABCA4Ex8NM_000350.2:c.1029T>Cp.Asn343= | p.N343=NM_000350.2:c.1029T>CVOUS03/22/2017
23ABCA4Ex9NM_000350.2:c.1140T>Ap.Asn380Lys | p.N380KNM_000350.2:c.1140T>AVOUS11/17/2016
24ABCA4Ex9NM_000350.2:c.1222C>Tp.Arg408* | p.R408XNM_000350.2:c.1222C>TPathogenic03/21/2016 
25ABCA4Ex10NM_000350.2:c.1240-14C>TNM_000350.2:c.1240-14C>TBenign11/07/2014 
26ABCA4Ex10NM_000350.2:c.1253T>Cp.Phe418Ser | p.F418SNM_000350.2:c.1253T>CPathogenic08/29/2016 
27ABCA4Ex10NM_000350.2:c.1267C>Tp.His423Tyr | p.H423YNM_000350.2:c.1267C>TVOUS01/17/2017
28ABCA4Ex10NM_000350.2:c.1268A>Gp.His423Arg | p.H423RNM_000350.2:c.1268A>GBenign05/19/2014 
29ABCA4Ex10NM_000350.2:c.1269C>Tp.His423= | p.H423=NM_000350.2:c.1269C>TBenign11/07/2014 
30ABCA4Ex10NM_000350.2:c.1317G>Cp.Trp439Cys | p.W439CNM_000350.2:c.1317G>CVOUS11/02/2018
31ABCA4Ex10NM_000350.2:c.1343T>Ap.Met448Lys | p.M448KNM_000350.2:c.1343T>AVOUS06/27/2016
32ABCA4Ex10NM_000350.2:c.1356+5_1356+6insCNM_000350.2:c.1356+5_1356+6insCBenign05/12/2015 
33ABCA4Ex10NM_000350.2:c.1356+10dupGNM_000350.2:c.1356+10_1356+11insG, NM_000350.2:c.1356+9_1356+10insGBenign05/19/2014 
34ABCA4Ex11NM_000350.2:c.1410A>Cp.Glu470Asp | p.E470DNM_000350.2:c.1410A>CVOUS09/01/2016
35ABCA4Ex11NM_000350.2:c.1411G>Ap.Glu471Lys | p.E471KNM_000350.2:c.1411G>AVOUS02/17/2017
36ABCA4Ex11NM_000350.2:c.1492G>Ap.Asp498Asn | p.D498NNM_000350.2:c.1492G>AVOUS10/08/2014
37ABCA4Ex11NM_000350.2:c.1500G>Ap.Arg500= | p.R500=NM_000350.2:c.1500G>AVOUS12/04/2018
38ABCA4Ex11NM_000350.2:c.1510A>Cp.Asn504His | p.N504HNM_000350.2:c.1510A>CVOUS06/07/2017
39ABCA4Ex11NM_000350.2:c.1532G>Ap.Arg511His | p.R511HNM_000350.2:c.1532G>AVOUS10/07/2016
40ABCA4Ex12NM_000350.2:c.1622T>Cp.Leu541Pro | p.L541PNM_000350.2:c.1622T>CVOUS03/15/2019
41ABCA4Ex12NM_000350.2:c.1653G>Ap.Val551= | p.V551=NM_000350.2:c.1653G>ALikely benign06/03/2015 
42ABCA4Ex12NM_000350.2:c.1654G>Ap.Val552Ile | p.V552INM_000350.2:c.1654G>ALikely benign01/09/2017 
43ABCA4Ex12NM_000350.2:c.1699G>Ap.Val567Met | p.V567MNM_000350.2:c.1699G>AVOUS04/25/2014
44ABCA4Ex12NM_000350.2:c.1715G>Ap.Arg572Gln | p.R572QNM_000350.2:c.1715G>AVOUS08/08/2016
45ABCA4Ex13NM_000350.2:c.1804C>Tp.Arg602Trp | p.R602WNM_000350.2:c.1804C>TPathogenic11/12/2018 
46ABCA4Ex13NM_000350.2:c.1927G>Ap.Val643Met | p.V643MNM_000350.2:c.1927G>ABenign05/13/2015 
47ABCA4Ex13NM_000350.2:c.1928T>Gp.Val643Gly | p.V643GNM_000350.2:c.1928T>GVOUS12/01/2016
48ABCA4Ex13NM_000350.2:c.1932C>Tp.Asp644= | p.D644=NM_000350.2:c.1932C>TVOUS08/04/2016
49ABCA4Ex14NM_000350.2:c.2023G>Ap.Val675Ile | p.V675INM_000350.2:c.2023G>ALikely pathogenic08/10/2016 
50ABCA4Ex15NM_000350.2:c.2345G>Ap.Trp782* | p.W782XNM_000350.2:c.2345G>APathogenic11/11/2016 
51ABCA4Ex16NM_000350.2:c.2486C>Tp.Thr829Met | p.T829MNM_000350.2:c.2486C>TVOUS10/01/2019
52ABCA4Ex16NM_000350.2:c.2546T>Cp.Val849Ala | p.V849ANM_000350.2:c.2546T>CLikely benign10/29/2018 
53ABCA4Ex16NM_000350.2:c.2560G>Ap.Ala854Thr | p.A854TNM_000350.2:c.2560G>AVOUS09/26/2014
54ABCA4Ex16NM_000350.2:c.2564G>Ap.Trp855* | p.W855XNM_000350.2:c.2564G>APathogenic03/31/2017 
55ABCA4Ex17NM_000350.2:c.2588G>Cp.Gly863Ala | p.G863ANM_000350.2:c.2588G>CPathogenic12/09/2019 
56ABCA4Ex18NM_000350.2:c.2690C>Tp.Thr897Ile | p.T897INM_000350.2:c.2690C>TVOUS09/14/2016
57ABCA4Ex18NM_000350.2:c.2701A>Gp.Thr901Ala | p.T901ANM_000350.2:c.2701A>GVOUS04/04/2019
58ABCA4Ex19NM_000350.2:c.2782G>Tp.Gly928Trp | p.G928WNM_000350.2:c.2782G>TVOUS08/14/2013
59ABCA4Ex19NM_000350.2:c.2791G>Ap.Val931Met | p.V931MNM_000350.2:c.2791G>ALikely pathogenic11/12/2018 
60ABCA4Ex19NM_000350.2:c.2819C>Gp.Pro940Arg | p.P940RNM_000350.2:c.2819C>GVOUS03/17/2016
61ABCA4Ex19NM_000350.2:c.2828G>Ap.Arg943Gln | p.R943QNM_000350.2:c.2828G>ABenign11/12/2018 
62ABCA4Ex19NM_000350.2:c.2869C>Ap.Gln957Lys | p.Q957KNM_000350.2:c.2869C>AVOUS08/14/2013
63ABCA4Ex19NM_000350.2:c.2902G>Ap.Gly968Arg | p.G968RNM_000350.2:c.2902G>AVOUS05/15/2015
64ABCA4Ex20NM_000350.2:c.2966T>Cp.Val989Ala | p.V989ANM_000350.2:c.2966T>CVOUS04/10/2019
65ABCA4Ex20NM_000350.2:c.2971G>Cp.Gly991Arg | p.G991RNM_000350.2:c.2971G>CVOUS03/17/2016
66ABCA4Ex21NM_000350.2:c.3056C>Tp.Thr1019Met | p.T1019MNM_000350.2:c.3056C>TPathogenic08/25/2016 
67ABCA4Ex21NM_000350.2:c.3103C>Gp.Gln1035Glu | p.Q1035ENM_000350.2:c.3103C>GVOUS08/07/2015
68ABCA4Ex21NM_000350.2:c.3113C>Tp.Ala1038Val | p.A1038VNM_000350.2:c.3113C>TPathogenic03/15/2019 
69ABCA4Ex21NM_000350.2:c.3139delGNM_000350.2:c.3139delGPathogenic11/17/2015 
70ABCA4Ex22NM_000350.2:c.3262C>Tp.Pro1088Ser | p.P1088SNM_000350.2:c.3262C>TVOUS10/25/2016
71ABCA4Ex22NM_000350.2:c.3322C>Tp.Arg1108Cys | p.R1108CNM_000350.2:c.3322C>TPathogenic12/29/2015 
72ABCA4Ex23NM_000350.2:c.3468C>Tp.Tyr1156= | p.Y1156=NM_000350.2:c.3468C>TVOUS09/14/2017
73ABCA4Ex24NM_000350.2:c.3576C>Tp.Val1192= | p.V1192=NM_000350.2:c.3576C>TVOUS12/31/2014
74ABCA4Ex24NM_000350.2:c.3602T>Gp.Leu1201Arg | p.L1201RNM_000350.2:c.3602T>GBenign03/05/2015 
75ABCA4Ex25NM_000350.2:c.3608G>Ap.Gly1203Glu | p.G1203ENM_000350.2:c.3608G>AVOUS01/17/2017
76ABCA4Ex25NM_000350.2:c.3610G>Ap.Asp1204Asn | p.D1204NNM_000350.2:c.3610G>AVOUS02/23/2017
77ABCA4Ex25NM_000350.2:c.3626T>Cp.Met1209Thr | p.M1209TNM_000350.2:c.3626T>CBenign02/25/2015 
78ABCA4Ex25NM_000350.2:c.3755A>Tp.Glu1252Val | p.E1252VNM_000350.2:c.3755A>TVOUS05/12/2017
79ABCA4Ex25NM_000350.2:c.3759G>Ap.Thr1253= | p.T1253=NM_000350.2:c.3759G>AVOUS11/26/2018
80ABCA4Ex27NM_000350.2:c.3899G>Ap.Arg1300Gln | p.R1300QNM_000350.2:c.3899G>ABenign06/11/2015 
81ABCA4Ex28NM_000350.2:c.4139C>Tp.Pro1380Leu | p.P1380LNM_000350.2:c.4139C>TPathogenic08/09/2013 
82ABCA4Ex28NM_000350.2:c.4203C>Tp.Pro1401= | p.P1401=NM_000350.2:c.4203C>TBenign08/10/2015 
83ABCA4Ex28NM_000350.2:c.4222T>Cp.Trp1408Arg | p.W1408RNM_000350.2:c.4222T>COther Reportable08/31/2017 
84ABCA4Ex29NM_000350.2:c.4254-5T>GNM_000350.2:c.4254-5T>GVOUS09/14/2016
85ABCA4Ex29NM_000350.2:c.4283C>Tp.Thr1428Met | p.T1428MNM_000350.2:c.4283C>TBenign06/09/2014 
86ABCA4Ex29NM_000350.2:c.4297G>Ap.Val1433Ile | p.V1433INM_000350.2:c.4297G>ALikely pathogenic04/24/2020 
87ABCA4Ex29NM_000350.2:c.4342G>Ap.Gly1448Arg | p.G1448RNM_000350.2:c.4342G>AVOUS02/12/2017
88ABCA4Ex30NM_000350.2:c.4363T>Cp.Cys1455Arg | p.C1455RNM_000350.2:c.4363T>CVOUS02/23/2017
89ABCA4Ex30NM_000350.2:c.4401C>Tp.Ser1467= | p.S1467=NM_000350.2:c.4401C>TVOUS10/07/2013
90ABCA4Ex30NM_000350.2:c.4407C>Tp.Asn1469= | p.N1469=NM_000350.2:c.4407C>TVOUS05/15/2015
91ABCA4Ex30NM_000350.2:c.4429C>Tp.Gln1477* | p.Q1477XNM_000350.2:c.4429C>TPathogenic08/21/2014 
92ABCA4Ex30NM_000350.2:c.4469G>Ap.Cys1490Tyr | p.C1490YNM_000350.2:c.4469G>APathogenic03/31/2016 
93ABCA4Ex30NM_000350.2:c.4529C>Tp.Pro1510Leu | p.P1510LNM_000350.2:c.4529C>TVOUS05/18/2017
94ABCA4Ex30NM_000350.2:c.4538A>Gp.Gln1513Arg | p.Q1513RNM_000350.2:c.4538A>GVOUS12/17/2013
95ABCA4Ex31NM_000350.2:c.4540-2A>GNM_000350.2:c.4540-2A>GPathogenic11/20/2013 
96ABCA4Ex31NM_000350.2:c.4577C>Tp.Thr1526Met | p.T1526MNM_000350.2:c.4577C>TPathogenic02/12/2015 
97ABCA4Ex31NM_000350.2:c.4594G>Ap.Asp1532Asn | p.D1532NNM_000350.2:c.4594G>APathogenic02/24/2015 
98ABCA4Ex31NM_000350.2:c.4611G>Ap.Thr1537= | p.T1537=NM_000350.2:c.4611G>AVOUS09/01/2016
99ABCA4Ex33NM_000350.2:c.4715C>Tp.Thr1572Met | p.T1572MNM_000350.2:c.4715C>TVOUS11/16/2016
100ABCA4Ex33NM_000350.2:c.4730T>Cp.Val1577Ala | p.V1577ANM_000350.2:c.4730T>CVOUS05/18/2017
101ABCA4Ex33NM_000350.2:c.4754G>Ap.Arg1585Gln | p.R1585QNM_000350.2:c.4754G>AVOUS03/02/2015
102ABCA4Ex33NM_000350.2:c.4771G>Ap.Gly1591Arg | p.G1591RNM_000350.2:c.4771G>AVOUS01/05/2017
103ABCA4Ex33NM_000350.2:c.4773+48C>TNM_000350.2:c.4773+48C>TBenign12/01/2016 
104ABCA4Ex35NM_000350.2:c.4900G>Tp.Ala1634Ser | p.A1634SNM_000350.2:c.4900G>TVOUS06/23/2017
105ABCA4Ex35NM_000350.2:c.4918C>Tp.Arg1640Trp | p.R1640WNM_000350.2:c.4918C>TOther Reportable08/31/2017 
106ABCA4Ex35NM_000350.2:c.4919G>Ap.Arg1640Gln | p.R1640QNM_000350.2:c.4919G>APathogenic10/27/2015 
107ABCA4Ex35NM_000350.2:c.4947delCNM_000350.2:c.4947delCPathogenic08/03/2016 
108ABCA4Ex36NM_000350.2:c.5056G>Ap.Val1686Met | p.V1686MNM_000350.2:c.5056G>AVOUS04/12/2019
109ABCA4Ex36NM_000350.2:c.5161_5162delACp.Thr1721Hisfs*65 | p.T1721HfsX65NM_000350.2:c.5161_5162delACPathogenic09/12/2016 
110ABCA4Ex37NM_000350.2:c.5219G>Ap.Gly1740Glu | p.G1740ENM_000350.2:c.5219G>AVOUS06/11/2014
111ABCA4Ex37NM_000350.2:c.5289delTp.Val1764Trpfs*14 | p.V1764WfsX14NM_000350.2:c.5289delTPathogenic06/27/2017 
112ABCA4Ex37NM_000350.2:c.5312+8G>ANM_000350.2:c.5312+8G>AVOUS01/30/2014
113ABCA4Ex38NM_000350.2:c.5318C>Tp.Ala1773Val | p.A1773VNM_000350.2:c.5318C>TPathogenic01/21/2020 
114ABCA4Ex39NM_000350.2:c.5461-10T>CNM_000350.2:c.5461-10T>CPathogenic02/20/2018 
115ABCA4Ex39NM_000350.2:c.5549T>Cp.Leu1850Pro | p.L1850PNM_000350.2:c.5549T>CLikely pathogenic09/10/2015 
116ABCA4Ex40NM_000350.2:c.5603A>Tp.Asn1868Ile | p.N1868INM_000350.2:c.5603A>TOther Reportable03/27/2020 
117ABCA4Ex40NM_000350.2:c.5682G>Cp.Leu1894= | p.L1894=NM_000350.2:c.5682G>CBenign06/11/2014 
118ABCA4Ex40NM_000350.2:c.5693G>Ap.Arg1898His | p.R1898HNM_000350.2:c.5693G>AVOUS09/17/2019
119ABCA4Ex40NM_000350.2:c.5714+5G>ANM_000350.2:c.5714+5G>APathogenic05/11/2016 
120ABCA4Ex42NM_000350.2:c.5836-11G>ANM_000350.2:c.5836-11G>ABenign12/01/2017 
121ABCA4Ex42NM_000350.2:c.5836-7C>TNM_000350.2:c.5836-7C>TVOUS10/27/2015
122ABCA4Ex42NM_000350.2:c.5843C>Tp.Pro1948Leu | p.P1948LNM_000350.2:c.5843C>TBenign12/01/2017 
123ABCA4Ex42NM_000350.2:c.5843_5844delCAinsTGp.Pro1948Leu | p.P1948LNM_000350.2:c.5843_5844delinsTGBenign08/01/2019 
124ABCA4Ex42NM_000350.2:c.5844A>Gp.Pro1948= | p.P1948=NM_000350.2:c.5844A>GBenign10/02/2018 
125ABCA4Ex42NM_000350.2:c.5880C>Tp.Val1960= | p.V1960=NM_000350.2:c.5880C>TVOUS11/22/2016
126ABCA4Ex42NM_000350.2:c.5882G>Ap.Gly1961Glu | p.G1961ENM_000350.2:c.5882G>APathogenic12/05/2019 
127ABCA4Ex43NM_000350.2:c.5899-2delANM_000350.2:c.5899-2delAPathogenic06/07/2017 
128ABCA4Ex43NM_000350.2:c.5908C>Tp.Leu1970Phe | p.L1970FNM_000350.2:c.5908C>TLikely benign06/22/2018 
129ABCA4Ex44NM_000350.2:c.6006-16G>ANM_000350.2:c.6006-16G>ABenign01/23/2017 
130ABCA4Ex44NM_000350.2:c.6040A>Gp.Met2014Val | p.M2014VNM_000350.2:c.6040A>GVOUS05/18/2017
131ABCA4Ex44NM_000350.2:c.6069T>Cp.Ile2023= | p.I2023=NM_000350.2:c.6069T>CBenign11/06/2014 
132ABCA4Ex44NM_000350.2:c.6079C>Tp.Leu2027Phe | p.L2027FNM_000350.2:c.6079C>TPathogenic06/18/2018 
133ABCA4Ex44NM_000350.2:c.6089G>Ap.Arg2030Gln | p.R2030QNM_000350.2:c.6089G>APathogenic09/20/2018 
134ABCA4Ex44NM_000350.2:c.6113G>Ap.Arg2038Gln | p.R2038QNM_000350.2:c.6113G>AVOUS08/11/2015
135ABCA4Ex44NM_000350.2:c.6118C>Tp.Arg2040* | p.R2040XNM_000350.2:c.6118C>TPathogenic08/16/2016 
136ABCA4Ex44NM_000350.2:c.6146delAp.Lys2049Argfs*12 | p.K2049RfsX12NM_000350.2:c.6146delAPathogenic01/21/2020 
137ABCA4Ex45NM_000350.2:c.6148G>Cp.Val2050Leu | p.V2050LNM_000350.2:c.6148G>C, XR_110476.1:n.*3892C>GBenign11/17/2016 
138ABCA4Ex45NM_000350.2:c.6166A>Tp.Lys2056* | p.K2056XNM_000350.2:c.6166A>T, XR_110476.1:n.*3874T>APathogenic10/30/2017 
139ABCA4Ex45NM_000350.2:c.6184_6187delGTCTNM_000350.2:c.6184_6187delGTCT, XR_110476.1:n.*3853_*3856delAGACPathogenic08/10/2015 
140ABCA4Ex45NM_000350.2:c.6193G>Cp.Asp2065His | p.D2065HNM_000350.2:c.6193G>C, XR_110476.1:n.*3847C>GVOUS04/27/2016
141ABCA4Ex45NM_000350.2:c.6215G>Ap.Ser2072Asn | p.S2072NNM_000350.2:c.6215G>A, XR_110476.1:n.*3825C>TVOUS11/08/2016
142ABCA4Ex45NM_000350.2:c.6229C>Tp.Arg2077Trp | p.R2077WNM_000350.2:c.6229C>T, XR_110476.1:n.*3811G>APathogenic10/21/2015 
143ABCA4Ex45NM_000350.2:c.6249C>Tp.Ile2083= | p.I2083=NM_000350.2:c.6249C>T, XR_110476.1:n.*3791G>ABenign08/25/2014 
144ABCA4Ex45NM_000350.2:c.6282+7G>ANM_000350.2:c.6282+7G>A, XR_110476.1:n.*3751C>TBenign05/22/2014 
145ABCA4Ex46NM_000350.2:c.6285T>Cp.Asp2095= | p.D2095=NM_000350.2:c.6285T>C, XR_110476.1:n.*3003A>GBenign06/02/2017 
146ABCA4Ex46NM_000350.2:c.6286G>Ap.Glu2096Lys | p.E2096KNM_000350.2:c.6286G>A, XR_110476.1:n.*3002C>TLikely pathogenic04/04/2019 
147ABCA4Ex46NM_000350.2:c.6319C>Ap.Arg2107Ser | p.R2107SNM_000350.2:c.6319C>A, XR_110476.1:n.*2969G>TVOUS11/21/2016
148ABCA4Ex46NM_000350.2:c.6320G>Ap.Arg2107His | p.R2107HNM_000350.2:c.6320G>A, XR_110476.1:n.*2968C>TVOUS05/12/2020
149ABCA4Ex46NM_000350.2:c.6342G>Ap.Val2114= | p.V2114=NM_000350.2:c.6342G>A, XR_110476.1:n.*2946C>TPathogenic08/29/2016 
150ABCA4Ex47NM_000350.2:c.6445C>Tp.Arg2149* | p.R2149XNM_000350.2:c.6445C>T, XR_110476.1:n.*2770G>APathogenic09/28/2017 
151ABCA4Ex47NM_000350.2:c.6449G>Ap.Cys2150Tyr | p.C2150YNM_000350.2:c.6449G>A, XR_110476.1:n.*2766C>TPathogenic03/29/2017 
152ABCA4Ex48NM_000350.2:c.6498C>Tp.Ile2166= | p.I2166=NM_000350.2:c.6498C>T, XR_110476.1:n.739G>AVOUS11/08/2018
153ABCA4Ex48NM_000350.2:c.6529G>Ap.Asp2177Asn | p.D2177NNM_000350.2:c.6529G>A, XR_110476.1:n.708C>TBenign10/26/2016 
154ABCA4Ex48NM_000350.2:c.6729+5_6729+19delGTTGGCCCTGGGGCANM_000350.2:c.6729+5_6729+19delGTTGGCCCTGGGGCA, XR_110476.1:n.517-28_517-14delTGCCCCAGGGCCAACPathogenic05/24/2017 
155ABCA4Ex49NM_000350.2:c.6730-3T>CNM_000350.2:c.6730-3T>C, XR_110476.1:n.513A>GBenign08/25/2014 
156ABCA4Ex49NM_000350.2:c.6732G>Ap.Val2244= | p.V2244=NM_000350.2:c.6732G>A, XR_110476.1:n.508C>TBenign06/11/2015 
157ABCA4Ex49NM_000350.2:c.6764G>Tp.Ser2255Ile | p.S2255INM_000350.2:c.6764G>T, XR_110476.1:n.476C>ABenign08/25/2014 

* 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.