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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  
1COL2A1Ex1NM_001844.4:c.25A>Tp.Thr9Ser | p.T9SNM_001844.4:c.25A>T, NM_033150.2:c.25A>TBenign01/21/2019 
2COL2A1Ex1NM_001844.4:c.85+1G>CNM_001844.4:c.85+1G>C, NM_033150.2:c.85+1G>CPathogenic01/21/2019 
3COL2A1Ex1NM_001844.4:c.85+18C>GNM_001844.4:c.85+18C>G, NM_033150.2:c.85+18C>GBenign01/21/2019 
4COL2A1Ex2NM_001844.4:c.195C>Tp.Asp65= | p.D65=NM_001844.4:c.195C>T, NM_033150.2:c.86-1585C>TVOUS10/20/2017
5COL2A1Ex2NM_001844.4:c.213C>Tp.Asp71= | p.D71=NM_001844.4:c.213C>T, NM_033150.2:c.86-1567C>TBenign05/05/2015 
6COL2A1Ex2NM_001844.4:c.258C>Ap.Cys86* | p.C86XNM_001844.4:c.258C>A, NM_033150.2:c.86-1522C>APathogenic11/13/2017 
7COL2A1Ex3NM_001844.4:c.297delAp.Gln99Hisfs*18 | p.Q99HfsX18NM_001844.4:c.297delA, NM_033150.2:c.90delAPathogenic08/05/2016 
8COL2A1Ex4NM_001844.4:c.310G>Tp.Gly104* | p.G104XNM_001844.4:c.310G>T, NM_033150.2:c.103G>TPathogenic03/22/2018 
9COL2A1Ex7NM_001844.4:c.491delCp.Pro164Leufs*35 | p.P164LfsX35NM_001844.4:c.491delC, NM_033150.2:c.284delCPathogenic04/23/2019 
10COL2A1Ex7NM_001844.4:c.504C>Ap.Gly168= | p.G168=NM_001844.4:c.504C>A, NM_033150.2:c.297C>ABenign09/18/2015 
11COL2A1Ex7NM_001844.4:c.507C>Tp.Pro169= | p.P169=NM_001844.4:c.507C>T, NM_033150.2:c.300C>TLikely benign06/25/2018 
12COL2A1Ex8NM_001844.4:c.591A>Tp.Gly197= | p.G197=NM_001844.4:c.591A>T, NM_033150.2:c.384A>TVOUS06/26/2018
13COL2A1Ex9NM_001844.4:c.644C>Ap.Ala215Glu | p.A215ENM_001844.4:c.644C>A, NM_033150.2:c.437C>AVOUS11/08/2017
14COL2A1Ex10NM_001844.4:c.708+8C>TNM_001844.4:c.708+8C>T, NM_033150.2:c.501+8C>TBenign09/23/2015 
15COL2A1Ex11NM_001844.4:c.709-8G>TNM_001844.4:c.709-8G>T, NM_033150.2:c.502-8G>TLikely benign07/28/2017 
16COL2A1Ex11NM_001844.4:c.714dupCp.Met239Hisfs*15 | p.M239HfsX15NM_001844.4:c.714_715insC, NM_001844.4:c.714dupC, NM_033150.2:c.507_508insC, NM_033150.2:c.507dupCPathogenic07/06/2016 
17COL2A1Ex11NM_001844.4:c.762+1G>ANM_001844.4:c.762+1G>A, NM_033150.2:c.555+1G>APathogenic04/12/2017 
18COL2A1Ex12NM_001844.4:c.798G>Ap.Arg266= | p.R266=NM_001844.4:c.798G>A, NM_033150.2:c.591G>AVOUS07/11/2017
19COL2A1Ex13NM_001844.4:c.870+5G>ANM_001844.4:c.870+5G>A, NM_033150.2:c.663+5G>AVOUS06/08/2016
20COL2A1Ex14NM_001844.4:c.908G>Ap.Gly303Asp | p.G303DPathogenic10/02/2014 
21COL2A1Ex14NM_001844.4:c.923dupAp.Glu310* | p.E310XNM_001844.4:c.923dupA, NM_033150.2:c.716dupALikely pathogenic03/31/2021 
22COL2A1Ex16NM_001844.4:c.1009C>Tp.Pro337Ser | p.P337SNM_001844.4:c.1009C>T, NM_033150.2:c.802C>TVOUS12/04/2020
23COL2A1Ex16NM_001844.4:c.1023+1G>ANM_001844.4:c.1023+1G>A, NM_033150.2:c.816+1G>APathogenic05/16/2016 
24COL2A1Ex17NM_001844.4:c.1052delGNM_001844.4:c.1052delG, NM_033150.2:c.845delGPathogenic08/09/2013 
25COL2A1Ex17NM_001844.4:c.1056delCNM_001844.4:c.1056delC, NM_033150.2:c.849delCPathogenic10/30/2014 
26COL2A1Ex17NM_001844.4:c.1068G>Ap.Pro356= | p.P356=NM_001844.4:c.1068G>A, NM_033150.2:c.861G>AVOUS06/29/2015
27COL2A1Ex18NM_001844.4:c.1071delTNM_001844.4:c.1071delT, NM_033150.2:c.864delTPathogenic06/03/2016 
28COL2A1Ex18NM_001844.4:c.1077C>Tp.Val359= | p.V359=NM_001844.4:c.1077C>T, NM_033150.2:c.870C>TVOUS12/07/2016
29COL2A1Ex18NM_001844.4:c.1115G>Ap.Gly372Glu | p.G372ENM_001844.4:c.1115G>A, NM_033150.2:c.908G>ALikely pathogenic02/26/2015 
30COL2A1Ex19NM_001844.4:c.1123-1G>ANM_001844.4:c.1123-1G>A, NM_033150.2:c.916-1G>APathogenic04/17/2018 
31COL2A1Ex19NM_001844.4:c.1176C>Tp.Arg392= | p.R392=NM_001844.4:c.1176C>T, NM_033150.2:c.969C>TVOUS08/13/2018
32COL2A1Ex19NM_001844.4:c.1214delGNM_001844.4:c.1214delG, NM_033150.2:c.1007delGPathogenic11/24/2014 
33COL2A1Ex20NM_001844.4:c.1266+5G>ANM_001844.4:c.1266+5G>A, NM_033150.2:c.1059+5G>AVOUS01/17/2017
34COL2A1Ex21NM_001844.4:c.1300C>Tp.Pro434Ser | p.P434SNM_001844.4:c.1300C>T, NM_033150.2:c.1093C>TVOUS08/22/2019
35COL2A1Ex21NM_001844.4:c.1340G>Ap.Gly447Asp | p.G447DNM_001844.4:c.1340G>A, NM_033150.2:c.1133G>ALikely pathogenic05/19/2016 
36COL2A1Ex21NM_001844.4:c.1358G>Cp.Gly453Ala | p.G453ANM_001844.4:c.1358G>C, NM_033150.2:c.1151G>CPathogenic02/20/2015 
37COL2A1Ex23NM_001844.4:c.1420-2A>CNM_001844.4:c.1420-2A>C, NM_033150.2:c.1213-2A>CPathogenic11/22/2014 
38COL2A1Ex23NM_001844.4:c.1433C>Tp.Pro478Leu | p.P478LNM_001844.4:c.1433C>T, NM_033150.2:c.1226C>TBenign04/23/2015 
39COL2A1Ex23NM_001844.4:c.1510G>Tp.Gly504Cys | p.G504CNM_001844.4:c.1510G>T, NM_033150.2:c.1303G>TPathogenic04/17/2015 
40COL2A1Ex23NM_001844.4:c.1510G>Ap.Gly504Ser | p.G504SNM_001844.4:c.1510G>A, NM_033150.2:c.1303G>APathogenic09/26/2017 
41COL2A1Ex24NM_001844.4:c.1543C>Tp.Arg515Cys | p.R515CNM_001844.4:c.1543C>T, NM_033150.2:c.1336C>TVOUS04/19/2016
42COL2A1Ex25NM_001844.4:c.1634A>Gp.Asn545Ser | p.N545SNM_001844.4:c.1634A>G, NM_033150.2:c.1427A>GVOUS01/10/2019
43COL2A1Ex25NM_001844.4:c.1636G>Ap.Gly546Ser | p.G546SNM_001844.4:c.1636G>A, NM_033150.2:c.1429G>APathogenic09/01/2016 
44COL2A1Ex25NM_001844.4:c.1649G>Tp.Arg550Leu | p.R550LNM_001844.4:c.1649G>T, NM_033150.2:c.1442G>TBenign09/29/2015 
45COL2A1Ex26NM_001844.4:c.1681-6A>GNM_001844.4:c.1681-6A>G, NM_033150.2:c.1474-6A>GVOUS10/12/2015
46COL2A1Ex26NM_001844.4:c.1703delAp.Asp568Valfs*61 | p.D568VfsX61NM_001844.4:c.1703delA, NM_033150.2:c.1496delAPathogenic07/14/2020 
47COL2A1Ex26NM_001844.4:c.1717G>Cp.Gly573Arg | p.G573RNM_001844.4:c.1717G>C, NM_033150.2:c.1510G>CLikely pathogenic10/12/2015 
48COL2A1Ex27NM_001844.4:c.1743T>Cp.Pro581= | p.P581=NM_001844.4:c.1743T>C, NM_033150.2:c.1536T>CVOUS05/03/2016
49COL2A1Ex27NM_001844.4:c.1771G>Cp.Gly591Arg | p.G591RNM_001844.4:c.1771G>C, NM_033150.2:c.1564G>CLikely pathogenic05/16/2016 
50COL2A1Ex27NM_001844.4:c.1799G>Tp.Gly600Val | p.G600VNM_001844.4:c.1799G>T, NM_033150.2:c.1592G>TLikely pathogenic05/05/2015 
51COL2A1Ex27NM_001844.4:c.1802T>Cp.Val601Ala | p.V601ANM_001844.4:c.1802T>C, NM_033150.2:c.1595T>CVOUS06/24/2016
52COL2A1Ex28NM_001844.4:c.1848A>Cp.Lys616Asn | p.K616NNM_001844.4:c.1848A>C, NM_033150.2:c.1641A>CVOUS03/31/2020
53COL2A1Ex28NM_001844.4:c.1861G>Ap.Gly621Arg | p.G621RNM_001844.4:c.1861G>A, NM_033150.2:c.1654G>ALikely pathogenic04/22/2015 
54COL2A1Ex29NM_001844.4:c.1924G>Tp.Gly642* | p.G642XNM_001844.4:c.1924G>T, NM_033150.2:c.1717G>TPathogenic02/09/2015 
55COL2A1Ex30NM_001844.4:c.1962C>Tp.Gly654= | p.G654=NM_001844.4:c.1962C>T, NM_033150.2:c.1755C>TVOUS04/03/2020
56COL2A1Ex31NM_001844.4:c.2015G>Cp.Gly672Ala | p.G672ANM_001844.4:c.2015G>C, NM_033150.2:c.1808G>CPathogenic04/22/2015 
57COL2A1Ex31NM_001844.4:c.2046C>Tp.Asp682= | p.D682=NM_001844.4:c.2046C>T, NM_033150.2:c.1839C>TBenign07/28/2017 
58COL2A1Ex33NM_001844.4:c.2095-4G>ANM_001844.4:c.2095-4G>A, NM_033150.2:c.1888-4G>ALikely benign12/09/2016 
59COL2A1Ex33NM_001844.4:c.2143C>Tp.Leu715Phe | p.L715FNM_001844.4:c.2143C>T, NM_033150.2:c.1936C>TVOUS06/05/2017
60COL2A1Ex33NM_001844.4:c.2156G>Tp.Arg719Leu | p.R719LNM_001844.4:c.2156G>T, NM_033150.2:c.1949G>TVOUS07/07/2014
61COL2A1Ex33NM_001844.4:c.2159G>Ap.Gly720Asp | p.G720DNM_001844.4:c.2159G>A, NM_033150.2:c.1952G>ALikely pathogenic01/06/2017 
62COL2A1Ex34NM_001844.4:c.2219dupCp.Gly741Trpfs*29 | p.G741WfsX29NM_001844.4:c.2219dupC, NM_033150.2:c.2012dupCPathogenic06/17/2020 
63COL2A1Ex34NM_001844.4:c.2286G>Ap.Gly762= | p.G762=NM_001844.4:c.2286G>A, NM_033150.2:c.2079G>AVOUS12/19/2014
64COL2A1Ex35NM_001844.4:c.2307C>Tp.Asp769= | p.D769=NM_001844.4:c.2307C>T, NM_033150.2:c.2100C>TVOUS03/31/2017
65COL2A1Ex35NM_001844.4:c.2334C>Tp.Ala778= | p.A778=NM_001844.4:c.2334C>T, NM_033150.2:c.2127C>TBenign07/21/2015 
66COL2A1Ex35NM_001844.4:c.2353C>Tp.Arg785* | p.R785XNM_001844.4:c.2353C>T, NM_033150.2:c.2146C>TPathogenic02/23/2016 
67COL2A1Ex35NM_001844.4:c.2355+5G>ANM_001844.4:c.2355+5G>A, NM_033150.2:c.2148+5G>ALikely pathogenic12/16/2016 
68COL2A1Ex36NM_001844.4:c.2382delTNM_001844.4:c.2382delT, NM_033150.2:c.2175delTPathogenic08/03/2016 
69COL2A1Ex36NM_001844.4:c.2400T>Cp.Asn800= | p.N800=NM_001844.4:c.2400T>C, NM_033150.2:c.2193T>CBenign02/05/2016 
70COL2A1Ex37NM_001844.4:c.2410-7C>TNM_001844.4:c.2410-7C>T, NM_033150.2:c.2203-7C>TVOUS07/21/2017
71COL2A1Ex37NM_001844.4:c.2428G>Tp.Gly810Cys | p.G810CNM_001844.4:c.2428G>T, NM_033150.2:c.2221G>TLikely pathogenic02/23/2015 
72COL2A1Ex38NM_001844.4:c.2465delGp.Gly822Valfs*59 | p.G822VfsX59NM_001844.4:c.2465delG, NM_033150.2:c.2258delGPathogenic07/30/2020 
73COL2A1Ex38NM_001844.4:c.2490_2491delCGinsAANM_001844.4:c.2490_2491delinsAA, NM_033150.2:c.2283_2284delinsAALikely pathogenic09/20/2016 
74COL2A1Ex39NM_001844.4:c.2530C>Tp.Gln844* | p.Q844XNM_001844.4:c.2530C>T, NM_033150.2:c.2323C>TPathogenic01/28/2015 
75COL2A1Ex39NM_001844.4:c.2574C>Tp.Gly858= | p.G858=NM_001844.4:c.2574C>T, NM_033150.2:c.2367C>TBenign12/14/2015 
76COL2A1Ex39NM_001844.4:c.2600G>Tp.Gly867Val | p.G867VNM_001844.4:c.2600G>T, NM_033150.2:c.2393G>TLikely pathogenic11/06/2015 
77COL2A1Ex39NM_001844.4:c.2620C>Ap.Pro874Thr | p.P874TNM_001844.4:c.2620C>A, NM_033150.2:c.2413C>AVOUS03/09/2017
78COL2A1Ex40NM_001844.4:c.2638G>Ap.Val880Met | p.V880MNM_001844.4:c.2638G>A, NM_033150.2:c.2431G>AVOUS06/22/2016
79COL2A1Ex40NM_001844.4:c.2673C>Gp.Gly891= | p.G891=NM_001844.4:c.2673C>G, NM_033150.2:c.2466C>GBenign07/25/2013 
80COL2A1Ex40NM_001844.4:c.2679G>Cp.Pro893= | p.P893=NM_001844.4:c.2679G>C, NM_033150.2:c.2472G>CVOUS06/28/2016
81COL2A1Ex40NM_001844.4:c.2679+6T>GNM_001844.4:c.2679+6T>G, NM_033150.2:c.2472+6T>GVOUS09/16/2015
82COL2A1Ex41NM_001844.4:c.2680-9C>TNM_001844.4:c.2680-9C>T, NM_033150.2:c.2473-9C>TVOUS02/15/2017
83COL2A1Ex41NM_001844.4:c.2709C>Tp.Gly903= | p.G903=NM_001844.4:c.2709C>T, NM_033150.2:c.2502C>TVOUS02/26/2015
84COL2A1Ex42NM_001844.4:c.2742T>Cp.Pro914= | p.P914=NM_001844.4:c.2742T>C, NM_033150.2:c.2535T>CVOUS09/27/2019
85COL2A1Ex42NM_001844.4:c.2788G>Cp.Gly930Arg | p.G930RNM_001844.4:c.2788G>C, NM_033150.2:c.2581G>CLikely pathogenic04/18/2016 
86COL2A1Ex42NM_001844.4:c.2794C>Tp.Arg932* | p.R932XNM_001844.4:c.2794C>T, NM_033150.2:c.2587C>TPathogenic02/23/2018 
87COL2A1Ex42NM_001844.4:c.2813delCp.Pro938Leufs*90 | p.P938LfsX90NM_001844.4:c.2813delC, NM_033150.2:c.2606delCPathogenic11/19/2018 
88COL2A1Ex42NM_001844.4:c.2831C>Tp.Pro944Leu | p.P944LNM_001844.4:c.2831C>T, NM_033150.2:c.2624C>TLikely benign06/08/2017 
89COL2A1Ex42NM_001844.4:c.2833G>Ap.Gly945Ser | p.G945SNM_001844.4:c.2833G>A, NM_033150.2:c.2626G>APathogenic03/12/2021 
90COL2A1Ex43NM_001844.4:c.2943C>Tp.Gly981= | p.G981=NM_001844.4:c.2943C>T, NM_033150.2:c.2736C>TVOUS11/18/2016
91COL2A1Ex43NM_001844.4:c.3003+9G>ANM_001844.4:c.3003+9G>A, NM_033150.2:c.2796+9G>ABenign10/08/2015 
92COL2A1Ex44NM_001844.4:c.3106C>Tp.Arg1036* | p.R1036XNM_001844.4:c.3106C>T, NM_033150.2:c.2899C>TPathogenic09/29/2015 
93COL2A1Ex45NM_001844.4:c.3138delTNM_001844.4:c.3138delT, NM_033150.2:c.2931delTPathogenic10/28/2015 
94COL2A1Ex45NM_001844.4:c.3149G>Ap.Gly1050Asp | p.G1050DNM_001844.4:c.3149G>A, NM_033150.2:c.2942G>ALikely pathogenic04/18/2017 
95COL2A1Ex45NM_001844.4:c.3151G>Ap.Ala1051Thr | p.A1051TNM_001844.4:c.3151G>A, NM_033150.2:c.2944G>ABenign07/28/2017 
96COL2A1Ex46NM_001844.4:c.3222C>Ap.Gly1074= | p.G1074=NM_001844.4:c.3222C>A, NM_033150.2:c.3015C>AVOUS01/15/2018
97COL2A1Ex47NM_001844.4:c.3275G>Ap.Gly1092Asp | p.G1092DNM_001844.4:c.3275G>A, NM_033150.2:c.3068G>ALikely pathogenic05/11/2015 
98COL2A1Ex47NM_001844.4:c.3311G>Ap.Gly1104Glu | p.G1104ENM_001844.4:c.3311G>A, NM_033150.2:c.3104G>ALikely pathogenic02/15/2016 
99COL2A1Ex48NM_001844.4:c.3382G>Cp.Gly1128Arg | p.G1128RNM_001844.4:c.3382G>C, NM_033150.2:c.3175G>CPathogenic10/12/2015 
100COL2A1Ex48NM_001844.4:c.3384C>Tp.Gly1128= | p.G1128=NM_001844.4:c.3384C>T, NM_033150.2:c.3177C>TLikely benign04/20/2018 
101COL2A1Ex48NM_001844.4:c.3435+18C>TNM_001844.4:c.3435+18C>T, NM_033150.2:c.3228+18C>TVOUS06/23/2017
102COL2A1Ex50NM_001844.4:c.3563G>Cp.Gly1188Ala | p.G1188ANM_001844.4:c.3563G>C, NM_033150.2:c.3356G>CPathogenic10/24/2019 
103COL2A1Ex50NM_001844.4:c.3574C>Tp.Arg1192* | p.R1192XNM_001844.4:c.3574C>T, NM_033150.2:c.3367C>TPathogenic09/29/2015 
104COL2A1Ex50NM_001844.4:c.3589G>Ap.Gly1197Ser | p.G1197SNM_001844.4:c.3589G>A, NM_033150.2:c.3382G>ALikely pathogenic03/02/2016 
105COL2A1Ex51NM_001844.4:c.3644G>Cp.Gly1215Ala | p.G1215ANM_001844.4:c.3644G>C, NM_033150.2:c.3437G>CVOUS12/29/2016
106COL2A1Ex51NM_001844.4:c.3699C>Tp.Pro1233= | p.P1233=NM_001844.4:c.3699C>T, NM_033150.2:c.3492C>TVOUS05/04/2017
107COL2A1Ex51NM_001844.4:c.3718C>Tp.Arg1240Trp | p.R1240WNM_001844.4:c.3718C>T, NM_033150.2:c.3511C>TVOUS12/21/2017
108COL2A1Ex51NM_001844.4:c.3736G>Ap.Gly1246Ser | p.G1246SNM_001844.4:c.3736G>A, NM_033150.2:c.3529G>ABenign07/25/2017 
109COL2A1Ex51NM_001844.4:c.3786C>Gp.Leu1262= | p.L1262=NM_001844.4:c.3786C>G, NM_033150.2:c.3579C>GVOUS06/28/2017
110COL2A1Ex51NM_001844.4:c.3791_3794delACCANM_001844.4:c.3791_3794delACCA, NM_033150.2:c.3584_3587delACCAPathogenic03/24/2015 
111COL2A1Ex51NM_001844.4:c.3826C>Tp.Arg1276Cys | p.R1276CNM_001844.4:c.3826C>T, NM_033150.2:c.3619C>TVOUS07/25/2019
112COL2A1Ex51NM_001844.4:c.3827G>Ap.Arg1276His | p.R1276HNM_001844.4:c.3827G>A, NM_033150.2:c.3620G>AVOUS09/17/2019
113COL2A1Ex51NM_001844.4:c.3842G>Ap.Arg1281His | p.R1281HNM_001844.4:c.3842G>A, NM_033150.2:c.3635G>AVOUS10/04/2017
114COL2A1Ex51NM_001844.4:c.3886G>Cp.Gly1296Arg | p.G1296RNM_001844.4:c.3886G>C, NM_033150.2:c.3679G>CVOUS11/03/2015
115COL2A1Ex51NM_001844.4:c.3886+1G>TNM_001844.4:c.3886+1G>T, NM_033150.2:c.3679+1G>TPathogenic12/13/2018 
116COL2A1Ex52NM_001844.4:c.3887-1G>CNM_001844.4:c.3887-1G>C, NM_033150.2:c.3680-1G>CPathogenic04/20/2018 
117COL2A1Ex52NM_001844.4:c.3952G>Ap.Glu1318Lys | p.E1318KNM_001844.4:c.3952G>A, NM_033150.2:c.3745G>AVOUS05/30/2017
118COL2A1Ex52NM_001844.4:c.3961G>Ap.Glu1321Lys | p.E1321KNM_001844.4:c.3961G>A, NM_033150.2:c.3754G>ALikely benign12/07/2015 
119COL2A1Ex52NM_001844.4:c.4064G>Ap.Gly1355Asp | p.G1355DNM_001844.4:c.4064G>A, NM_033150.2:c.3857G>AVOUS08/21/2017
120COL2A1Ex53NM_001844.4:c.4095T>Cp.Asn1365= | p.N1365=NM_001844.4:c.4095T>C, NM_033150.2:c.3888T>CVOUS06/28/2015
121COL2A1Ex53NM_001844.4:c.4104C>Tp.Pro1368= | p.P1368=NM_001844.4:c.4104C>T, NM_033150.2:c.3897C>TBenign12/01/2014 
122COL2A1Ex53NM_001844.4:c.4116C>Tp.Asn1372= | p.N1372=NM_001844.4:c.4116C>T, NM_033150.2:c.3909C>TVOUS10/23/2017
123COL2A1Ex53NM_001844.4:c.4136G>Ap.Arg1379His | p.R1379HNM_001844.4:c.4136G>A, NM_033150.2:c.3929G>AVOUS07/26/2017
124COL2A1Ex53NM_001844.4:c.4195_4205delTATCTGGACGAinsAGCATTGCCNM_001844.4:c.4195_4205delinsAGCATTGCC, NM_033150.2:c.3988_3998delinsAGCATTGCCPathogenic01/06/2017 
125COL2A1Ex53NM_001844.4:c.4213G>Ap.Gly1405Ser | p.G1405SNM_001844.4:c.4213G>A, NM_033150.2:c.4006G>ABenign01/11/2017 
126COL2A1Ex53NM_001844.4:c.4290G>Ap.Thr1430= | p.T1430=NM_001844.4:c.4290G>A, NM_033150.2:c.4083G>AVOUS09/26/2017
127COL2A1Ex53NM_001844.4:c.4306G>Ap.Asp1436Asn | p.D1436NNM_001844.4:c.4306G>A, NM_033150.2:c.4099G>AVOUS10/31/2014
128COL2A1Ex54NM_001844.4:c.4326C>Tp.Thr1442= | p.T1442=NM_001143841.1:c.*5316G>A, NM_001143842.1:c.*5316G>A, NM_001143843.1:c.*5316G>A, NM_001844.4:c.4326C>T, NM_024056.3:c.*5316G>A, NM_033150.2:c.4119C>TVOUS11/10/2017
129COL2A1Ex54NM_001844.4:c.4327G>Ap.Gly1443Ser | p.G1443SNM_001143841.1:c.*5315C>T, NM_001143842.1:c.*5315C>T, NM_001143843.1:c.*5315C>T, NM_001844.4:c.4327G>A, NM_024056.3:c.*5315C>T, NM_033150.2:c.4120G>ABenign02/22/2017 
130COL2A1Ex54NM_001844.4:c.4328delGp.Gly1443Valfs*28 | p.G1443VfsX28NM_001143841.1:c.*5314delC, NM_001143842.1:c.*5314delC, NM_001143843.1:c.*5314delC, NM_001844.4:c.4328delG, NM_024056.3:c.*5314delC, NM_033150.2:c.4121delGPathogenic03/01/2017 
131COL2A1Ex54NM_001844.4:c.4414G>Cp.Gly1472Arg | p.G1472RNM_001143841.1:c.*5228C>G, NM_001143842.1:c.*5228C>G, NM_001143843.1:c.*5228C>G, NM_001844.4:c.4414G>C, NM_024056.3:c.*5228C>G, NM_033150.2:c.4207G>CVOUS07/22/2019
132COL2A1Ex54NM_001844.4:c.4447_4450delCCGGNM_001143841.1:c.*5192_*5195delCCGG, NM_001143842.1:c.*5192_*5195delCCGG, NM_001143843.1:c.*5192_*5195delCCGG, NM_001844.4:c.4447_4450delCCGG, NM_024056.3:c.*5192_*5195delCCGG, NM_033150.2:c.4240_4243delCCGGPathogenic02/05/2015 
133COL2A1Ex54NM_001844.4:c.4453T>Cp.Cys1485Arg | p.C1485RNM_001143841.1:c.*5189A>G, NM_001143842.1:c.*5189A>G, NM_001143843.1:c.*5189A>G, NM_001844.4:c.4453T>C, NM_024056.3:c.*5189A>G, NM_033150.2:c.4246T>CVOUS06/18/2018

* 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.