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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  
1ADGRV1Ex1NM_032119.3:c.22+9T>CNM_032119.3:c.22+9T>C, NR_003149.1:n.118+9T>CLikely benign06/04/2015 
2ADGRV1Ex1NM_032119.3:c.-96-2G>ANM_032119.3:c.-98G>A, NR_003149.1:n.-2G>ABenign07/31/2018 
3ADGRV1Ex2NM_032119.3:c.155G>Ap.Arg52His | p.R52HNM_032119.3:c.155G>A, NR_003149.1:n.251G>AVOUS01/22/2016
4ADGRV1Ex2NM_032119.3:c.207+3A>GNM_032119.3:c.207+3A>G, NR_003149.1:n.303+3A>GVOUS05/29/2018
5ADGRV1Ex3NM_032119.3:c.222C>Tp.Asp74= | p.D74=NM_032119.3:c.222C>T, NR_003149.1:n.318C>TVOUS09/13/2016
6ADGRV1Ex3NM_032119.3:c.265G>Ap.Ala89Thr | p.A89TNM_032119.3:c.265G>A, NR_003149.1:n.361G>AVOUS06/16/2017
7ADGRV1Ex3NM_032119.3:c.267C>Tp.Ala89= | p.A89=NM_032119.3:c.267C>T, NR_003149.1:n.363C>TVOUS11/19/2014
8ADGRV1Ex3NM_032119.3:c.357+5G>ANM_032119.3:c.357+5G>A, NR_003149.1:n.453+5G>AVOUS08/17/2016
9ADGRV1Ex3NM_032119.3:c.357+8C>TNM_032119.3:c.357+8C>T, NR_003149.1:n.453+8C>TVOUS03/16/2015
10ADGRV1Ex5NM_032119.3:c.463A>Gp.Ile155Val | p.I155VNM_032119.3:c.463A>G, NR_003149.1:n.559A>GLikely benign05/26/2016 
11ADGRV1Ex6NM_032119.3:c.600A>Gp.Pro200= | p.P200=NM_032119.3:c.600A>G, NR_003149.1:n.696A>GVOUS03/22/2018
12ADGRV1Ex6NM_032119.3:c.627delTNM_032119.3:c.627delT, NR_003149.1:n.723delTPathogenic01/16/2017 
13ADGRV1Ex7NM_032119.3:c.684T>Cp.Asn228= | p.N228=NM_032119.3:c.684T>C, NR_003149.1:n.780T>CVOUS05/24/2016
14ADGRV1Ex7NM_032119.3:c.746G>Ap.Arg249Lys | p.R249KNM_032119.3:c.746G>A, NR_003149.1:n.842G>ABenign09/19/2016 
15ADGRV1Ex7NM_032119.3:c.754A>Gp.Ile252Val | p.I252VNM_032119.3:c.754A>G, NR_003149.1:n.850A>GVOUS05/12/2017
16ADGRV1Ex7NM_032119.3:c.1033C>Ap.Gln345Lys | p.Q345KNM_032119.3:c.1033C>A, NR_003149.1:n.1129C>AVOUS02/12/2016
17ADGRV1Ex7NM_032119.3:c.1056G>Ap.Pro352= | p.P352=NM_032119.3:c.1056G>A, NR_003149.1:n.1152G>AVOUS12/07/2015
18ADGRV1Ex7NM_032119.3:c.1085T>Cp.Leu362Ser | p.L362SNM_032119.3:c.1085T>C, NR_003149.1:n.1181T>CVOUS11/15/2016
19ADGRV1Ex7NM_032119.3:c.1086A>Gp.Leu362= | p.L362=NM_032119.3:c.1086A>G, NR_003149.1:n.1182A>GBenign03/20/2015 
20ADGRV1Ex7NM_032119.3:c.1131T>Gp.Ser377= | p.S377=NM_032119.3:c.1131T>G, NR_003149.1:n.1227T>GLikely benign11/19/2015 
21ADGRV1Ex7NM_032119.3:c.1140A>Gp.Gln380= | p.Q380=NM_032119.3:c.1140A>G, NR_003149.1:n.1236A>GVOUS05/15/2015
22ADGRV1Ex7NM_032119.3:c.1189A>Gp.Ser397Gly | p.S397GNM_032119.3:c.1189A>G, NR_003149.1:n.1285A>GVOUS06/07/2018
23ADGRV1Ex7NM_032119.3:c.1210G>Ap.Val404Ile | p.V404INM_032119.3:c.1210G>A, NR_003149.1:n.1306G>AVOUS01/16/2018
24ADGRV1Ex8NM_032119.3:c.1254A>Gp.Thr418= | p.T418=NM_032119.3:c.1254A>G, NR_003149.1:n.1350A>GVOUS07/03/2017
25ADGRV1Ex8NM_032119.3:c.1374T>Ap.Phe458Leu | p.F458LNM_032119.3:c.1374T>A, NR_003149.1:n.1470T>AVOUS01/13/2017
26ADGRV1Ex8NM_032119.3:c.1411G>Cp.Val471Leu | p.V471LNM_032119.3:c.1411G>C, NR_003149.1:n.1507G>CVOUS07/14/2017
27ADGRV1Ex8NM_032119.3:c.1480G>Cp.Gly494Arg | p.G494RNM_032119.3:c.1480G>C, NR_003149.1:n.1576G>CVOUS10/02/2015
28ADGRV1Ex9NM_032119.3:c.1522A>Cp.Ile508Leu | p.I508LNM_032119.3:c.1522A>C, NR_003149.1:n.1618A>CLikely benign02/03/2015 
29ADGRV1Ex9NM_032119.3:c.1675T>Cp.Tyr559His | p.Y559HNM_032119.3:c.1675T>C, NR_003149.1:n.1771T>CVOUS06/06/2014
30ADGRV1Ex9NM_032119.3:c.1718G>Tp.Gly573Val | p.G573VNM_032119.3:c.1718G>T, NR_003149.1:n.1814G>TVOUS11/14/2019
31ADGRV1Ex9NM_032119.3:c.1776C>Ap.Val592= | p.V592=NM_032119.3:c.1776C>A, NR_003149.1:n.1872C>AVOUS04/08/2016
32ADGRV1Ex9NM_032119.3:c.1797A>Tp.Arg599Ser | p.R599SNM_032119.3:c.1797A>T, NR_003149.1:n.1893A>TVOUS02/05/2016
33ADGRV1Ex9NM_032119.3:c.1801G>Tp.Asp601Tyr | p.D601YNM_032119.3:c.1801G>T, NR_003149.1:n.1897G>TVOUS02/10/2018
34ADGRV1Ex9NM_032119.3:c.1837C>Ap.Gln613Lys | p.Q613KNM_032119.3:c.1837C>A, NR_003149.1:n.1933C>AVOUS08/05/2019
35ADGRV1Ex10NM_032119.3:c.1849G>Ap.Val617Met | p.V617MNM_032119.3:c.1849G>A, NR_003149.1:n.1945G>AVOUS02/12/2016
36ADGRV1Ex10NM_032119.3:c.1854G>Ap.Glu618= | p.E618=NM_032119.3:c.1854G>A, NR_003149.1:n.1950G>AVOUS03/02/2015
37ADGRV1Ex10NM_032119.3:c.1855T>Gp.Leu619Val | p.L619VNM_032119.3:c.1855T>G, NR_003149.1:n.1951T>GVOUS08/06/2019
38ADGRV1Ex11NM_032119.3:c.2023A>Cp.Ile675Leu | p.I675LNM_032119.3:c.2023A>C, NR_003149.1:n.2119A>C, XM_005248613.1:c.-9464A>CVOUS08/13/2018
39ADGRV1Ex11NM_032119.3:c.2106G>Ap.Val702= | p.V702=NM_032119.3:c.2106G>A, NR_003149.1:n.2202G>A, XM_005248613.1:c.-9381G>AVOUS03/20/2015
40ADGRV1Ex11NM_032119.3:c.2112G>Ap.Pro704= | p.P704=NM_032119.3:c.2112G>A, NR_003149.1:n.2208G>A, XM_005248613.1:c.-9375G>AVOUS02/12/2016
41ADGRV1Ex11NM_032119.3:c.2119A>Tp.Ile707Leu | p.I707LNM_032119.3:c.2119A>T, NR_003149.1:n.2215A>T, XM_005248613.1:c.-9368A>TLikely benign01/18/2017 
42ADGRV1Ex11NM_032119.3:c.2233C>Gp.Leu745Val | p.L745VNM_032119.3:c.2233C>G, NR_003149.1:n.2329C>G, XM_005248613.1:c.-9254C>GVOUS11/14/2014
43ADGRV1Ex12NM_032119.3:c.2367+8C>TBenign05/09/2013 
44ADGRV1Ex13NM_032119.3:c.2375A>Cp.Glu792Ala | p.E792ANM_032119.3:c.2375A>C, NR_003149.1:n.2471A>C, XM_005248613.1:c.-4425A>CVOUS01/18/2017
45ADGRV1Ex13NM_032119.3:c.2456G>Ap.Ser819Asn | p.S819NNM_032119.3:c.2456G>A, NR_003149.1:n.2552G>A, XM_005248613.1:c.-4344G>ALikely benign09/01/2016 
46ADGRV1Ex13NM_032119.3:c.2459A>Gp.Asn820Ser | p.N820SNM_032119.3:c.2459A>G, NR_003149.1:n.2555A>G, XM_005248613.1:c.-4341A>GVOUS07/03/2018
47ADGRV1Ex13NM_032119.3:c.2538G>Ap.Leu846= | p.L846=NM_032119.3:c.2538G>A, NR_003149.1:n.2634G>A, XM_005248613.1:c.-4262G>AVOUS06/26/2017
48ADGRV1Ex13NM_032119.3:c.2543G>Ap.Gly848Glu | p.G848ENM_032119.3:c.2543G>A, NR_003149.1:n.2639G>A, XM_005248613.1:c.-4257G>AVOUS04/14/2017
49ADGRV1Ex13NM_032119.3:c.2553+11T>ANM_032119.3:c.2553+11T>A, NR_003149.1:n.2649+11T>A, XM_005248613.1:c.-4247+11T>ABenign06/13/2017 
50ADGRV1Ex14NM_032119.3:c.2567A>Gp.Tyr856Cys | p.Y856CNM_032119.3:c.2567A>G, NR_003149.1:n.2663A>G, XM_005248613.1:c.-4233A>GVOUS06/23/2016
51ADGRV1Ex14NM_032119.3:c.2576T>Cp.Val859Ala | p.V859ANM_032119.3:c.2576T>C, NR_003149.1:n.2672T>C, XM_005248613.1:c.-4224T>CVOUS08/19/2015
52ADGRV1Ex14NM_032119.3:c.2596C>Tp.Arg866Trp | p.R866WNM_032119.3:c.2596C>T, NR_003149.1:n.2692C>T, XM_005248613.1:c.-4204C>TVOUS01/16/2017
53ADGRV1Ex14NM_032119.3:c.2723C>Gp.Ala908Gly | p.A908GNM_032119.3:c.2723C>G, NR_003149.1:n.2819C>G, XM_005248613.1:c.-4077C>GVOUS12/05/2016
54ADGRV1Ex14NM_032119.3:c.2734+8A>GNM_032119.3:c.2734+8A>G, NR_003149.1:n.2830+8A>G, XM_005248613.1:c.-4066+8A>GVOUS07/28/2016
55ADGRV1Ex15NM_032119.3:c.2735-8T>CNM_032119.3:c.2735-8T>C, NR_003149.1:n.2831-8T>C, XM_005248613.1:c.-4065-8T>CVOUS11/02/2017
56ADGRV1Ex15NM_032119.3:c.2740T>Cp.Tyr914His | p.Y914HNM_032119.3:c.2740T>C, NR_003149.1:n.2836T>C, XM_005248613.1:c.-4060T>CVOUS12/07/2018
57ADGRV1Ex15NM_032119.3:c.2816A>Gp.Asp939Gly | p.D939GNM_032119.3:c.2816A>G, NR_003149.1:n.2912A>G, XM_005248613.1:c.-3984A>GVOUS08/11/2016
58ADGRV1Ex15NM_032119.3:c.2820A>Gp.Val940= | p.V940=NM_032119.3:c.2820A>G, NR_003149.1:n.2916A>G, XM_005248613.1:c.-3980A>GVOUS03/15/2016
59ADGRV1Ex15NM_032119.3:c.2885C>Gp.Ser962Cys | p.S962CNM_032119.3:c.2885C>G, NR_003149.1:n.2981C>G, XM_005248613.1:c.-3915C>GVOUS01/16/2018
60ADGRV1Ex16NM_032119.3:c.2991T>Cp.Ile997= | p.I997=NM_032119.3:c.2991T>C, NR_003149.1:n.3087T>C, XM_005248613.1:c.-3809T>CVOUS09/14/2016
61ADGRV1Ex16NM_032119.3:c.3022+8T>CNM_032119.3:c.3022+8T>C, NR_003149.1:n.3118+8T>C, XM_005248613.1:c.-3778+8T>CVOUS09/09/2015
62ADGRV1Ex17NM_032119.3:c.3151G>Tp.Asp1051Tyr | p.D1051YNM_032119.3:c.3151G>T, NR_003149.1:n.3247G>T, XM_005248613.1:c.-3649G>TLikely benign09/22/2015 
63ADGRV1Ex17NM_032119.3:c.3191A>Cp.Glu1064Ala | p.E1064ANM_032119.3:c.3191A>C, NR_003149.1:n.3287A>C, XM_005248613.1:c.-3609A>CLikely benign07/23/2014 
64ADGRV1Ex17NM_032119.3:c.3244C>Tp.Pro1082Ser | p.P1082SNM_032119.3:c.3244C>T, NR_003149.1:n.3340C>T, XM_005248613.1:c.-3556C>TVOUS07/21/2014
65ADGRV1Ex17NM_032119.3:c.3255T>Cp.Asp1085= | p.D1085=NM_032119.3:c.3255T>C, NR_003149.1:n.3351T>C, XM_005248613.1:c.-3545T>CLikely benign05/11/2016 
66ADGRV1Ex17NM_032119.3:c.3279G>Tp.Leu1093Phe | p.L1093FNM_032119.3:c.3279G>T, NR_003149.1:n.3375G>T, XM_005248613.1:c.-3521G>TBenign07/21/2014 
67ADGRV1Ex18NM_032119.3:c.3295A>Gp.Thr1099Ala | p.T1099ANM_032119.3:c.3295A>G, NR_003149.1:n.3391A>G, XM_005248613.1:c.-3505A>GBenign06/13/2016 
68ADGRV1Ex18NM_032119.3:c.3303A>Gp.Val1101= | p.V1101=NM_032119.3:c.3303A>G, NR_003149.1:n.3399A>G, XM_005248613.1:c.-3497A>GBenign08/12/2015 
69ADGRV1Ex18NM_032119.3:c.3320C>Gp.Ala1107Gly | p.A1107GNM_032119.3:c.3320C>G, NR_003149.1:n.3416C>G, XM_005248613.1:c.-3480C>GVOUS04/12/2019
70ADGRV1Ex19NM_032119.3:c.3443G>Ap.Gly1148Asp | p.G1148DNM_032119.3:c.3443G>A, NR_003149.1:n.3539G>A, XM_005248613.1:c.-3357G>AVOUS08/05/2019
71ADGRV1Ex19NM_032119.3:c.3509A>Gp.Tyr1170Cys | p.Y1170CNM_032119.3:c.3509A>G, NR_003149.1:n.3605A>G, XM_005248613.1:c.-3291A>GVOUS06/02/2016
72ADGRV1Ex19NM_032119.3:c.3563T>Cp.Ile1188Thr | p.I1188TNM_032119.3:c.3563T>C, NR_003149.1:n.3659T>C, XM_005248613.1:c.-3237T>CVOUS01/23/2017
73ADGRV1Ex20NM_032119.3:c.3819G>Ap.Arg1273= | p.R1273=NM_032119.3:c.3819G>A, NR_003149.1:n.3915G>A, XM_005248613.1:c.-2981G>AVOUS09/06/2016
74ADGRV1Ex20NM_032119.3:c.3938A>Gp.His1313Arg | p.H1313RNM_032119.3:c.3938A>G, NR_003149.1:n.4034A>G, XM_005248613.1:c.-2862A>GVOUS02/25/2016
75ADGRV1Ex20NM_032119.3:c.4032C>Tp.Tyr1344= | p.Y1344=NM_032119.3:c.4032C>T, NR_003149.1:n.4128C>TVOUS10/16/2017
76ADGRV1Ex20NM_032119.3:c.4168A>Gp.Asn1390Asp | p.N1390DNM_032119.3:c.4168A>G, NR_003149.1:n.4264A>G, XM_005248613.1:c.-2632A>GVOUS11/19/2014
77ADGRV1Ex20NM_032119.3:c.4214C>Tp.Ser1405Phe | p.S1405FNM_032119.3:c.4214C>T, NR_003149.1:n.4310C>T, XM_005248613.1:c.-2586C>TVOUS11/21/2016
78ADGRV1Ex20NM_032119.3:c.4251delAp.Lys1417Asnfs*3 | p.K1417NfsX3NM_032119.3:c.4251delA, NR_003149.1:n.4347delA, XM_005248613.1:c.-2549delAPathogenic01/25/2017 
79ADGRV1Ex20NM_032119.3:c.4254T>Cp.Tyr1418= | p.Y1418=NM_032119.3:c.4254T>C, NR_003149.1:n.4350T>C, XM_005248613.1:c.-2546T>CBenign09/28/2015 
80ADGRV1Ex21NM_032119.3:c.4468C>Ap.Leu1490Met | p.L1490MNM_032119.3:c.4468C>A, NR_003149.1:n.4564C>A, XM_005248613.1:c.-2332C>AVOUS11/07/2014
81ADGRV1Ex21NM_032119.3:c.4487A>Gp.Tyr1496Cys | p.Y1496CNM_032119.3:c.4487A>G, NR_003149.1:n.4583A>G, XM_005248613.1:c.-2313A>GVOUS09/12/2016
82ADGRV1Ex21NM_032119.3:c.4507G>Ap.Ala1503Thr | p.A1503TNM_032119.3:c.4507G>A, NR_003149.1:n.4603G>A, XM_005248613.1:c.-2293G>AVOUS11/14/2014
83ADGRV1Ex21NM_032119.3:c.4550G>Tp.Arg1517Ile | p.R1517INM_032119.3:c.4550G>T, NR_003149.1:n.4646G>T, XM_005248613.1:c.-2250G>TVOUS02/01/2016
84ADGRV1Ex21NM_032119.3:c.4666G>Ap.Glu1556Lys | p.E1556KNM_032119.3:c.4666G>A, NR_003149.1:n.4762G>A, XM_005248613.1:c.-2134G>AVOUS04/02/2015
85ADGRV1Ex21NM_032119.3:c.4702delANM_032119.3:c.4702delA, NR_003149.1:n.4798delA, XM_005248613.1:c.-2098delAPathogenic02/09/2015 
86ADGRV1Ex21NM_032119.3:c.4712C>Tp.Ala1571Val | p.A1571VNM_032119.3:c.4712C>T, NR_003149.1:n.4808C>T, XM_005248613.1:c.-2088C>TVOUS11/15/2016
87ADGRV1Ex21NM_032119.3:c.4714A>Gp.Asn1572Asp | p.N1572DVOUS03/06/2013
88ADGRV1Ex22NM_032119.3:c.4781G>Ap.Cys1594Tyr | p.C1594YNM_032119.3:c.4781G>A, NR_003149.1:n.4877G>A, XM_005248613.1:c.-2019G>AVOUS10/11/2016
89ADGRV1Ex23NM_032119.3:c.4939A>Gp.Ile1647Val | p.I1647VNM_032119.3:c.4939A>G, NR_003149.1:n.5035A>G, XM_005248613.1:c.-1861A>GBenign06/13/2014 
90ADGRV1Ex23NM_032119.3:c.4975G>Ap.Glu1659Lys | p.E1659KNM_032119.3:c.4975G>A, NR_003149.1:n.5071G>A, XM_005248613.1:c.-1825G>AVOUS09/03/2014
91ADGRV1Ex23NM_032119.3:c.5072C>Tp.Thr1691Met | p.T1691MNM_032119.3:c.5072C>T, NR_003149.1:n.5168C>T, XM_005248613.1:c.-1728C>TVOUS08/13/2018
92ADGRV1Ex24NM_032119.3:c.5192C>Tp.Thr1731Ile | p.T1731INM_032119.3:c.5192C>T, NR_003149.1:n.5288C>T, XM_005248613.1:c.-1608C>TVOUS07/19/2016
93ADGRV1Ex24NM_032119.3:c.5221T>Cp.Leu1741= | p.L1741=NM_032119.3:c.5221T>C, NR_003149.1:n.5317T>C, XM_005248613.1:c.-1579T>CVOUS07/11/2017
94ADGRV1Ex24NM_032119.3:c.5264C>Tp.Ala1755Val | p.A1755VNM_032119.3:c.5264C>T, NR_003149.1:n.5360C>T, XM_005248613.1:c.-1536C>TVOUS07/14/2017
95ADGRV1Ex24NM_032119.3:c.5282C>Gp.Ser1761Cys | p.S1761CNM_032119.3:c.5282C>G, NR_003149.1:n.5378C>G, XM_005248613.1:c.-1518C>GVOUS12/17/2014
96ADGRV1Ex24NM_032119.3:c.5295C>Gp.Phe1765Leu | p.F1765LNM_032119.3:c.5295C>G, NR_003149.1:n.5391C>GVOUS05/05/2014
97ADGRV1Ex24NM_032119.3:c.5313+4A>GNM_032119.3:c.5313+4A>G, NR_003149.1:n.5409+4A>G, XM_005248613.1:c.-1487+4A>GVOUS01/22/2019
98ADGRV1Ex25NM_032119.3:c.5379T>Cp.Thr1793= | p.T1793=NM_032119.3:c.5379T>C, NR_003149.1:n.5475T>C, XM_005248613.1:c.-1421T>CVOUS05/24/2016
99ADGRV1Ex27NM_032119.3:c.5525-7C>TNM_032119.3:c.5525-7C>T, NR_003149.1:n.5621-7C>T, XM_005248613.1:c.-1275-7C>TBenign01/23/2015 
100ADGRV1Ex27NM_032119.3:c.5537T>Cp.Val1846Ala | p.V1846ANM_032119.3:c.5537T>C, NR_003149.1:n.5633T>C, XM_005248613.1:c.-1263T>CVOUS09/06/2016
101ADGRV1Ex27NM_032119.3:c.5578G>Ap.Ala1860Thr | p.A1860TNM_032119.3:c.5578G>A, NR_003149.1:n.5674G>A, XM_005248613.1:c.-1222G>AVOUS09/14/2016
102ADGRV1Ex27NM_032119.3:c.5658A>Gp.Thr1886= | p.T1886=NM_032119.3:c.5658A>G, NR_003149.1:n.5754A>G, XM_005248613.1:c.-1142A>GVOUS03/31/2016
103ADGRV1Ex28NM_032119.3:c.5784C>Tp.Ser1928= | p.S1928=NM_032119.3:c.5784C>T, NR_003149.1:n.5880C>T, XM_005248613.1:c.-1016C>TVOUS08/09/2017
104ADGRV1Ex28NM_032119.3:c.5785G>Tp.Ala1929Ser | p.A1929SNM_032119.3:c.5785G>T, NR_003149.1:n.5881G>T, XM_005248613.1:c.-1015G>TVOUS06/26/2014
105ADGRV1Ex28NM_032119.3:c.5830G>Ap.Asp1944Asn | p.D1944NNM_032119.3:c.5830G>A, NR_003149.1:n.5926G>ABenign06/27/2014 
106ADGRV1Ex28NM_032119.3:c.5830G>Tp.Asp1944Tyr | p.D1944YNM_032119.3:c.5830G>T, NR_003149.1:n.5926G>T, XM_005248613.1:c.-970G>TVOUS05/20/2016
107ADGRV1Ex28NM_032119.3:c.5835G>Ap.Lys1945= | p.K1945=NM_032119.3:c.5835G>A, NR_003149.1:n.5931G>A, XM_005248613.1:c.-965G>AVOUS12/05/2016
108ADGRV1Ex28NM_032119.3:c.5851G>Ap.Val1951Ile | p.V1951INM_032119.3:c.5851G>A, NR_003149.1:n.5947G>ABenign06/26/2014 
109ADGRV1Ex28NM_032119.3:c.5953A>Gp.Asn1985Asp | p.N1985DNM_032119.3:c.5953A>G, NR_003149.1:n.6049A>GBenign04/25/2014 
110ADGRV1Ex28NM_032119.3:c.5953A>Cp.Asn1985His | p.N1985HNM_032119.3:c.5953A>C, NR_003149.1:n.6049A>C, XM_005248613.1:c.-847A>CVOUS01/04/2017
111ADGRV1Ex28NM_032119.3:c.5960C>Tp.Pro1987Leu | p.P1987LNM_032119.3:c.5960C>T, NR_003149.1:n.6056C>TBenign06/22/2014 
112ADGRV1Ex28NM_032119.3:c.6012G>Tp.Leu2004Phe | p.L2004FNM_032119.3:c.6012G>T, NR_003149.1:n.6108G>TBenign04/25/2014 
113ADGRV1Ex28NM_032119.3:c.6095C>Tp.Ala2032Val | p.A2032VNM_032119.3:c.6095C>T, NR_003149.1:n.6191C>TBenign04/25/2014 
114ADGRV1Ex28NM_032119.3:c.6133G>Ap.Gly2045Arg | p.G2045RNM_032119.3:c.6133G>A, NR_003149.1:n.6229G>A, XM_005248613.1:c.-667G>ABenign01/07/2015 
115ADGRV1Ex28NM_032119.3:c.6229G>Ap.Glu2077Lys | p.E2077KNM_032119.3:c.6229G>A, NR_003149.1:n.6325G>A, XM_005248613.1:c.-571G>AVOUS05/24/2016
116ADGRV1Ex29NM_032119.3:c.6289C>Tp.Arg2097Cys | p.R2097CNM_032119.3:c.6289C>T, NR_003149.1:n.6385C>T, XM_005248613.1:c.-511C>TBenign12/16/2015 
117ADGRV1Ex29NM_032119.3:c.6290G>Ap.Arg2097His | p.R2097HNM_032119.3:c.6290G>A, NR_003149.1:n.6386G>A, XM_005248613.1:c.-510G>AVOUS06/16/2017
118ADGRV1Ex29NM_032119.3:c.6317C>Tp.Ala2106Val | p.A2106VNM_032119.3:c.6317C>T, NR_003149.1:n.6413C>T, XM_005248613.1:c.-483C>TBenign06/06/2014 
119ADGRV1Ex29NM_032119.3:c.6318G>Ap.Ala2106= | p.A2106=NM_032119.3:c.6318G>A, NR_003149.1:n.6414G>A, XM_005248613.1:c.-482G>ABenign04/02/2015 
120ADGRV1Ex29NM_032119.3:c.6338A>Gp.Asn2113Ser | p.N2113SNM_032119.3:c.6338A>G, NR_003149.1:n.6434A>G, XM_005248613.1:c.-462A>GVOUS06/11/2018
121ADGRV1Ex29NM_032119.3:c.6443C>Tp.Ala2148Val | p.A2148VNM_032119.3:c.6443C>T, NR_003149.1:n.6539C>T, XM_005248613.1:c.-357C>TVOUS01/16/2015
122ADGRV1Ex30NM_032119.3:c.6524T>Cp.Val2175Ala | p.V2175ANM_032119.3:c.6524T>C, NR_003149.1:n.6620T>C, XM_005248613.1:c.-276T>CVOUS08/17/2017
123ADGRV1Ex30NM_032119.3:c.6568A>Gp.Ile2190Val | p.I2190VNM_032119.3:c.6568A>G, NR_003149.1:n.6664A>G, XM_005248613.1:c.-232A>GVOUS07/08/2016
124ADGRV1Ex30NM_032119.3:c.6608T>Cp.Val2203Ala | p.V2203ANM_032119.3:c.6608T>C, NR_003149.1:n.6704T>C, XM_005248613.1:c.-192T>CBenign10/16/2015 
125ADGRV1Ex30NM_032119.3:c.6684T>Ap.Ser2228= | p.S2228=NM_032119.3:c.6684T>A, NR_003149.1:n.6780T>A, XM_005248613.1:c.-116T>AVOUS05/27/2015
126ADGRV1Ex31NM_032119.3:c.6859G>Ap.Val2287Ile | p.V2287INM_032119.3:c.6859G>A, NR_003149.1:n.6955G>A, XM_005248613.1:c.60G>AVOUS06/28/2018
127ADGRV1Ex31NM_032119.3:c.6884C>Tp.Ala2295Val | p.A2295VNM_032119.3:c.6884C>T, NR_003149.1:n.6964+16C>T, XM_005248613.1:c.69+16C>TVOUS08/23/2017
128ADGRV1Ex31NM_032119.3:c.6901C>Tp.Gln2301* | p.Q2301XNM_032119.3:c.6901C>T, NR_003149.1:n.6964+33C>T, XM_005248613.1:c.69+33C>TPathogenic01/25/2017 
129ADGRV1Ex32NM_032119.3:c.6994A>Tp.Ile2332Phe | p.I2332FNM_032119.3:c.6994A>T, NR_003149.1:n.7007A>T, XM_005248613.1:c.112A>TVOUS09/11/2015
130ADGRV1Ex32NM_032119.3:c.7095G>Ap.Leu2365= | p.L2365=NM_032119.3:c.7095G>A, NR_003149.1:n.7108G>A, XM_005248613.1:c.213G>AVOUS08/19/2014
131ADGRV1Ex33NM_032119.3:c.7176C>Tp.Ser2392= | p.S2392=NM_032119.3:c.7176C>T, NR_003149.1:n.7189C>T, XM_005248613.1:c.294C>TLikely benign07/20/2015 
132ADGRV1Ex33NM_032119.3:c.7284T>Cp.Asn2428= | p.N2428=NM_032119.3:c.7284T>C, NR_003149.1:n.7297T>C, XM_005248613.1:c.402T>CBenign06/13/2016 
133ADGRV1Ex33NM_032119.3:c.7569A>Gp.Thr2523= | p.T2523=NM_032119.3:c.7569A>G, NR_003149.1:n.7582A>G, XM_005248613.1:c.687A>GVOUS02/10/2018
134ADGRV1Ex33NM_032119.3:c.7582C>Tp.Pro2528Ser | p.P2528SNM_032119.3:c.7582C>T, NR_003149.1:n.7595C>T, XM_005248613.1:c.700C>TBenign01/29/2015 
135ADGRV1Ex33NM_032119.3:c.7588G>Cp.Asp2530His | p.D2530HNM_032119.3:c.7588G>C, NR_003149.1:n.7601G>C, XM_005248613.1:c.706G>CVOUS04/12/2018
136ADGRV1Ex33NM_032119.3:c.7806C>Gp.Pro2602= | p.P2602=NM_032119.3:c.7806C>G, NR_003149.1:n.7819C>G, XM_005248613.1:c.924C>GVOUS12/07/2015
137ADGRV1Ex33NM_032119.3:c.7829T>Cp.Ile2610Thr | p.I2610TNM_032119.3:c.7829T>C, NR_003149.1:n.7842T>C, XM_005248613.1:c.947T>CVOUS01/06/2017
138ADGRV1Ex33NM_032119.3:c.7874G>Ap.Arg2625His | p.R2625HNM_032119.3:c.7874G>A, NR_003149.1:n.7887G>A, XM_005248613.1:c.992G>ALikely benign02/09/2015 
139ADGRV1Ex34NM_032119.3:c.8004C>Tp.Asp2668= | p.D2668=NM_032119.3:c.8004C>T, NR_003149.1:n.8017C>T, XM_005248613.1:c.1122C>TVOUS08/11/2016
140ADGRV1Ex34NM_032119.3:c.8088G>Ap.Leu2696= | p.L2696=NM_032119.3:c.8088G>A, NR_003149.1:n.8101G>A, XM_005248613.1:c.1206G>ALikely benign08/10/2015 
141ADGRV1Ex34NM_032119.3:c.8110A>Tp.Ile2704Phe | p.I2704FNM_032119.3:c.8110A>T, NR_003149.1:n.8123A>T, XM_005248613.1:c.1228A>TVOUS01/23/2017
142ADGRV1Ex34NM_032119.3:c.8111T>Cp.Ile2704Thr | p.I2704TNM_032119.3:c.8111T>C, NR_003149.1:n.8124T>C, XM_005248613.1:c.1229T>CVOUS01/12/2017
143ADGRV1Ex34NM_032119.3:c.8133C>Tp.Ser2711= | p.S2711=NM_032119.3:c.8133C>T, NR_003149.1:n.8146C>T, XM_005248613.1:c.1251C>TBenign01/14/2016 
144ADGRV1Ex35NM_032119.3:c.8156-6T>CNM_032119.3:c.8156-6T>C, NR_003149.1:n.8169-6T>C, XM_005248613.1:c.1274-6T>CVOUS08/21/2014
145ADGRV1Ex35NM_032119.3:c.8161A>Gp.Ile2721Val | p.I2721VNM_032119.3:c.8161A>G, NR_003149.1:n.8174A>G, XM_005248613.1:c.1279A>GVOUS01/21/2015
146ADGRV1Ex35NM_032119.3:c.8172C>Tp.Phe2724= | p.F2724=NM_032119.3:c.8172C>T, NR_003149.1:n.8185C>T, XM_005248613.1:c.1290C>TLikely benign01/18/2017 
147ADGRV1Ex35NM_032119.3:c.8204delANM_032119.3:c.8204delA, NR_003149.1:n.8217delA, XM_005248613.1:c.1322delAPathogenic11/14/2014 
148ADGRV1Ex35NM_032119.3:c.8272C>Gp.Leu2758Val | p.L2758VNM_032119.3:c.8272C>G, NR_003149.1:n.8285C>G, XM_005248613.1:c.1390C>GVOUS06/09/2017
149ADGRV1Ex36NM_032119.3:c.8291C>Gp.Ser2764Trp | p.S2764WNM_032119.3:c.8291C>G, NR_003149.1:n.8304C>G, XM_005248613.1:c.1409C>GVOUS12/18/2018
150ADGRV1Ex36NM_032119.3:c.8292G>Ap.Ser2764= | p.S2764=NM_032119.3:c.8292G>A, NR_003149.1:n.8305G>A, XM_005248613.1:c.1410G>AVOUS08/12/2015
151ADGRV1Ex36NM_032119.3:c.8295G>Tp.Leu2765Phe | p.L2765FNM_032119.3:c.8295G>T, NR_003149.1:n.8308G>T, XM_005248613.1:c.1413G>TVOUS06/23/2015
152ADGRV1Ex36NM_032119.3:c.8369A>Gp.Tyr2790Cys | p.Y2790CNM_032119.3:c.8369A>G, NR_003149.1:n.8382A>G, XM_005248613.1:c.1487A>GVOUS01/04/2015
153ADGRV1Ex37NM_032119.3:c.8401G>Ap.Gly2801Arg | p.G2801RNM_032119.3:c.8401G>A, NR_003149.1:n.8414G>A, XM_005248613.1:c.1519G>AVOUS06/30/2016
154ADGRV1Ex37NM_032119.3:c.8455A>Gp.Ser2819Gly | p.S2819GNM_032119.3:c.8455A>G, NR_003149.1:n.8468A>G, XM_005248613.1:c.1573A>GVOUS01/27/2015
155ADGRV1Ex38NM_032119.3:c.8572A>Gp.Ile2858Val | p.I2858VNM_032119.3:c.8572A>G, NR_003149.1:n.8585A>G, XM_005248613.1:c.1690A>GVOUS05/15/2017
156ADGRV1Ex38NM_032119.3:c.8579T>Cp.Val2860Ala | p.V2860ANM_032119.3:c.8579T>C, NR_003149.1:n.8592T>C, XM_005248613.1:c.1697T>CVOUS10/28/2014
157ADGRV1Ex38NM_032119.3:c.8671G>Tp.Gly2891Cys | p.G2891CNM_032119.3:c.8671G>T, NR_003149.1:n.8684G>T, XM_005248613.1:c.1789G>TVOUS06/09/2016
158ADGRV1Ex38NM_032119.3:c.8691A>Cp.Glu2897Asp | p.E2897DNM_032119.3:c.8691A>C, NR_003149.1:n.8704A>C, XM_005248613.1:c.1809A>CLikely benign02/06/2015 
159ADGRV1Ex38NM_032119.3:c.8730+9_8730+10insTNM_032119.3:c.8730+9_8730+10insT, NR_003149.1:n.8743+9_8743+10insT, XM_005248613.1:c.1848+9_1848+10insTLikely benign12/19/2014 
160ADGRV1Ex38NM_032119.3:c.8730+9_8730+10delCTNM_032119.3:c.8730+9_8730+10delCT, NR_003149.1:n.8743+9_8743+10delCT, XM_005248613.1:c.1848+9_1848+10delCTVOUS04/12/2016
161ADGRV1Ex38NM_032119.3:c.8730+9C>TNM_032119.3:c.8730+9C>T, NR_003149.1:n.8743+9C>T, XM_005248613.1:c.1848+9C>TBenign06/10/2016 
162ADGRV1Ex38NM_032119.3:c.8730+10_8730+11insCNM_032119.3:c.8730+10_8730+11insC, NR_003149.1:n.8743+10_8743+11insC, XM_005248613.1:c.1848+10_1848+11insCLikely benign12/19/2014 
163ADGRV1Ex39NM_032119.3:c.8738T>Cp.Val2913Ala | p.V2913ANM_032119.3:c.8738T>C, NR_003149.1:n.8751T>C, XM_005248613.1:c.1856T>CVOUS08/31/2016
164ADGRV1Ex39NM_032119.3:c.8791A>Gp.Met2931Val | p.M2931VNM_032119.3:c.8791A>G, NR_003149.1:n.8804A>G, XM_005248613.1:c.1909A>GVOUS12/20/2016
165ADGRV1Ex39NM_032119.3:c.8815C>Tp.Pro2939Ser | p.P2939SNM_032119.3:c.8815C>T, NR_003149.1:n.8828C>T, XM_005248613.1:c.1933C>TVOUS06/28/2018
166ADGRV1Ex40NM_032119.3:c.8842G>Ap.Ala2948Thr | p.A2948TNM_032119.3:c.8842G>A, NR_003149.1:n.8855G>A, XM_005248613.1:c.1960G>AVOUS10/16/2015
167ADGRV1Ex41NM_032119.3:c.8938T>Cp.Leu2980= | p.L2980=NM_032119.3:c.8938T>C, NR_003149.1:n.8951T>C, XM_005248613.1:c.2056T>CVOUS08/29/2017
168ADGRV1Ex42NM_032119.3:c.9083A>Gp.Asn3028Ser | p.N3028SNM_032119.3:c.9083A>G, NR_003149.1:n.9096A>G, XM_005248613.1:c.2201A>GVOUS07/11/2014
169ADGRV1Ex43NM_032119.3:c.9213C>Tp.Asp3071= | p.D3071=NM_032119.3:c.9213C>T, NR_003149.1:n.9226C>T, XM_005248613.1:c.2331C>TVOUS08/04/2015
170ADGRV1Ex43NM_032119.3:c.9329G>Ap.Gly3110Glu | p.G3110ENM_032119.3:c.9329G>A, NR_003149.1:n.9342G>A, XM_005248613.1:c.2447G>AVOUS09/13/2016
171ADGRV1Ex43NM_032119.3:c.9366A>Gp.Thr3122= | p.T3122=NM_032119.3:c.9366A>G, NR_003149.1:n.9379A>G, XM_005248613.1:c.2484A>GBenign01/07/2015 
172ADGRV1Ex43NM_032119.3:c.9440G>Ap.Arg3147Gln | p.R3147QNM_032119.3:c.9440G>A, NR_003149.1:n.9453G>A, XM_005248613.1:c.2558G>AVOUS11/14/2019
173ADGRV1Ex43NM_032119.3:c.9447+6G>ANM_032119.3:c.9447+6G>A, NR_003149.1:n.9460+6G>A, XM_005248613.1:c.2565+6G>AVOUS06/23/2015
174ADGRV1Ex44NM_032119.3:c.9558C>Tp.Thr3186= | p.T3186=NM_032119.3:c.9558C>T, NR_003149.1:n.9571C>T, XM_005248613.1:c.2676C>TVOUS08/08/2017
175ADGRV1Ex45NM_032119.3:c.9631T>Cp.Ser3211Pro | p.S3211PNM_032119.3:c.9631T>C, NR_003149.1:n.9644T>C, XM_005248613.1:c.2749T>CVOUS05/27/2015
176ADGRV1Ex45NM_032119.3:c.9635T>Cp.Ile3212Thr | p.I3212TNM_032119.3:c.9635T>C, NR_003149.1:n.9648T>C, XM_005248613.1:c.2753T>CVOUS09/12/2016
177ADGRV1Ex45NM_032119.3:c.9643G>Ap.Glu3215Lys | p.E3215KNM_032119.3:c.9643G>A, NR_003149.1:n.9656G>A, XM_005248613.1:c.2761G>AVOUS10/20/2015
178ADGRV1Ex46NM_032119.3:c.9772G>Ap.Val3258Ile | p.V3258INM_032119.3:c.9772G>A, NR_003149.1:n.9785G>A, XM_005248613.1:c.2890G>AVOUS04/24/2015
179ADGRV1Ex47NM_032119.3:c.9927T>Gp.Pro3309= | p.P3309=NM_032119.3:c.9927T>G, NR_003149.1:n.9940T>G, XM_005248613.1:c.3045T>GBenign07/07/2015 
180ADGRV1Ex47NM_032119.3:c.10039T>Cp.Phe3347Leu | p.F3347LNM_032119.3:c.10039T>C, NR_003149.1:n.10052T>C, XM_005248613.1:c.3157T>CBenign06/18/2014 
181ADGRV1Ex47NM_032119.3:c.10051C>Tp.Leu3351= | p.L3351=NM_032119.3:c.10051C>T, NR_003149.1:n.10064C>T, XM_005248613.1:c.3169C>TVOUS01/19/2017
182ADGRV1Ex48NM_032119.3:c.10054-3C>TNM_032119.3:c.10054-3C>T, NR_003149.1:n.10067-3C>T, XM_005248613.1:c.3172-3C>TVOUS02/20/2017
183ADGRV1Ex48NM_032119.3:c.10066A>Gp.Ile3356Val | p.I3356VNM_032119.3:c.10066A>G, NR_003149.1:n.10079A>G, XM_005248613.1:c.3184A>GVOUS04/03/2018
184ADGRV1Ex48NM_032119.3:c.10126A>Gp.Ile3376Val | p.I3376VNM_032119.3:c.10126A>G, NR_003149.1:n.10139A>G, XM_005248613.1:c.3244A>GBenign12/18/2014 
185ADGRV1Ex48NM_032119.3:c.10149C>Tp.Ser3383= | p.S3383=NM_032119.3:c.10149C>T, NR_003149.1:n.10162C>T, XM_005248613.1:c.3267C>TVOUS03/01/2018
186ADGRV1Ex49NM_032119.3:c.10260C>Tp.Phe3420= | p.F3420=NM_032119.3:c.10260C>T, NR_003149.1:n.10273C>T, XM_005248613.1:c.3378C>TVOUS11/04/2016
187ADGRV1Ex49NM_032119.3:c.10322G>Cp.Gly3441Ala | p.G3441ANM_032119.3:c.10322G>C, NR_003149.1:n.10335G>C, XM_005248613.1:c.3440G>CVOUS01/26/2017
188ADGRV1Ex49NM_032119.3:c.10323G>Tp.Gly3441= | p.G3441=NM_032119.3:c.10323G>T, NR_003149.1:n.10336G>T, XM_005248613.1:c.3441G>TVOUS03/13/2015
189ADGRV1Ex49NM_032119.3:c.10342G>Ap.Val3448Met | p.V3448MNM_032119.3:c.10342G>A, NR_003149.1:n.10355G>A, XM_005248613.1:c.3460G>AVOUS01/21/2015
190ADGRV1Ex49NM_032119.3:c.10411G>Ap.Glu3471Lys | p.E3471KNM_032119.3:c.10411G>A, NR_003149.1:n.10424G>A, XM_005248613.1:c.3529G>ABenign01/21/2015 
191ADGRV1Ex51NM_032119.3:c.10550-7C>TNM_032119.3:c.10550-7C>T, NR_003149.1:n.10563-7C>T, XM_005248613.1:c.3668-7C>TVOUS08/24/2017
192ADGRV1Ex51NM_032119.3:c.10563T>Cp.Leu3521= | p.L3521=NM_032119.3:c.10563T>C, NR_003149.1:n.10576T>C, XM_005248613.1:c.3681T>CVOUS08/01/2018
193ADGRV1Ex51NM_032119.3:c.10577T>Cp.Met3526Thr | p.M3526TNM_032119.3:c.10577T>C, NR_003149.1:n.10590T>C, XM_005248613.1:c.3695T>CBenign11/07/2014 
194ADGRV1Ex51NM_032119.3:c.10697T>Cp.Ile3566Thr | p.I3566TNM_032119.3:c.10697T>C, NR_003149.1:n.10710T>C, XM_005248613.1:c.3815T>CVOUS02/27/2017
195ADGRV1Ex51NM_032119.3:c.10736C>Tp.Ala3579Val | p.A3579VNM_032119.3:c.10736C>T, NR_003149.1:n.10749C>T, XM_005248613.1:c.3854C>TVOUS09/09/2016
196ADGRV1Ex52NM_032119.3:c.10906A>Gp.Ile3636Val | p.I3636VNM_032119.3:c.10906A>G, NR_003149.1:n.10919A>G, XM_005248613.1:c.4024A>GVOUS05/25/2017
197ADGRV1Ex52NM_032119.3:c.10936T>Cp.Ser3646Pro | p.S3646PNM_032119.3:c.10936T>C, NR_003149.1:n.10949T>C, XM_005248613.1:c.4054T>CBenign02/26/2015 
198ADGRV1Ex52NM_032119.3:c.10974G>Tp.Gln3658His | p.Q3658HNM_032119.3:c.10974G>T, NR_003149.1:n.10987G>T, XM_005248613.1:c.4092G>TVOUS08/20/2014
199ADGRV1Ex54NM_032119.3:c.11138G>Tp.Gly3713Val | p.G3713VNM_032119.3:c.11138G>T, NR_003149.1:n.11151G>T, XM_005248613.1:c.4256G>TVOUS04/20/2018
200ADGRV1Ex54NM_032119.3:c.11157C>Ap.Ile3719= | p.I3719=NM_032119.3:c.11157C>A, NR_003149.1:n.11170C>A, XM_005248613.1:c.4275C>AVOUS01/22/2015
201ADGRV1Ex54NM_032119.3:c.11201T>Cp.Val3734Ala | p.V3734ANM_032119.3:c.11201T>C, NR_003149.1:n.11214T>C, XM_005248613.1:c.4319T>CLikely benign05/30/2017 
202ADGRV1Ex54NM_032119.3:c.11253C>Tp.Tyr3751= | p.Y3751=NM_032119.3:c.11253C>T, NR_003149.1:n.11266C>T, XM_005248613.1:c.4371C>TVOUS05/16/2016
203ADGRV1Ex55NM_032119.3:c.11568T>Cp.Val3856= | p.V3856=NM_032119.3:c.11568T>C, NR_003149.1:n.11581T>C, XM_005248613.1:c.4686T>CLikely benign09/03/2014 
204ADGRV1Ex56NM_032119.3:c.11581-3dupCNM_032119.3:c.11581-3_11581-2insC, NR_003149.1:n.11594-3_11594-2insC, XM_005248613.1:c.4699-3_4699-2insCBenign11/22/2015 
205ADGRV1Ex56NM_032119.3:c.11599G>Ap.Glu3867Lys | p.E3867KNM_032119.3:c.11599G>A, NR_003149.1:n.11612G>A, XM_005248613.1:c.4717G>ABenign11/22/2015 
206ADGRV1Ex56NM_032119.3:c.11682C>Tp.Pro3894= | p.P3894=NM_032119.3:c.11682C>T, NR_003149.1:n.11695C>T, XM_005248613.1:c.4800C>TBenign11/22/2015 
207ADGRV1Ex57NM_032119.3:c.11761G>Ap.Ala3921Thr | p.A3921TNM_032119.3:c.11761G>A, NR_003149.1:n.11774G>A, XM_005248613.1:c.4879G>AVOUS11/22/2014
208ADGRV1Ex57NM_032119.3:c.11805C>Tp.Asn3935= | p.N3935=NM_032119.3:c.11805C>T, NR_003149.1:n.11818C>T, XM_005248613.1:c.4923C>TLikely benign05/29/2018 
209ADGRV1Ex57NM_032119.3:c.11940G>Tp.Gln3980His | p.Q3980HNM_032119.3:c.11940G>T, NR_003149.1:n.11953G>T, XM_005248613.1:c.5058G>TVOUS05/22/2018
210ADGRV1Ex58NM_032119.3:c.11974G>Ap.Asp3992Asn | p.D3992NNM_032119.3:c.11974G>A, NR_003149.1:n.11987G>A, XM_005248613.1:c.5092G>AVOUS09/12/2016
211ADGRV1Ex58NM_032119.3:c.12008T>Cp.Ile4003Thr | p.I4003TNM_032119.3:c.12008T>C, NR_003149.1:n.12021T>C, XM_005248613.1:c.5126T>CVOUS07/22/2016
212ADGRV1Ex59NM_032119.3:c.12176C>Tp.Thr4059Met | p.T4059MNM_032119.3:c.12176C>T, NR_003149.1:n.12189C>T, XM_005248613.1:c.5294C>TVOUS05/11/2016
213ADGRV1Ex59NM_032119.3:c.12181G>Tp.Val4061Phe | p.V4061FNM_032119.3:c.12181G>T, NR_003149.1:n.12194G>T, XM_005248613.1:c.5299G>TVOUS09/01/2017
214ADGRV1Ex59NM_032119.3:c.12207C>Tp.Thr4069= | p.T4069=NM_032119.3:c.12207C>T, NR_003149.1:n.12220C>T, XM_005248613.1:c.5325C>TVOUS12/21/2015
215ADGRV1Ex59NM_032119.3:c.12208G>Ap.Val4070Ile | p.V4070INM_032119.3:c.12208G>A, NR_003149.1:n.12221G>A, XM_005248613.1:c.5326G>AVOUS08/05/2014
216ADGRV1Ex59NM_032119.3:c.12212G>Ap.Arg4071Gln | p.R4071QNM_032119.3:c.12212G>A, NR_003149.1:n.12225G>A, XM_005248613.1:c.5330G>AVOUS08/22/2014
217ADGRV1Ex59NM_032119.3:c.12269C>Ap.Thr4090Asn | p.T4090NNM_032119.3:c.12269C>A, NR_003149.1:n.12282C>A, XM_005248613.1:c.5387C>ALikely benign02/20/2015 
218ADGRV1Ex60NM_032119.3:c.12349C>Tp.Arg4117Cys | p.R4117CNM_032119.3:c.12349C>T, NR_003149.1:n.12362C>T, XM_005248613.1:c.5467C>TVOUS05/27/2015
219ADGRV1Ex60NM_032119.3:c.12350G>Ap.Arg4117His | p.R4117HNM_032119.3:c.12350G>A, NR_003149.1:n.12363G>A, XM_005248613.1:c.5468G>AVOUS05/29/2018
220ADGRV1Ex60NM_032119.3:c.12368dupTp.Ser4124Ilefs*3 | p.S4124IfsX3NM_032119.3:c.12368dupT, NR_003149.1:n.12381dupT, XM_005248613.1:c.5486dupTPathogenic07/13/2018 
221ADGRV1Ex60NM_032119.3:c.12373A>Gp.Ile4125Val | p.I4125VNM_032119.3:c.12373A>G, NR_003149.1:n.12386A>G, XM_005248613.1:c.5491A>GVOUS08/13/2018
222ADGRV1Ex60NM_032119.3:c.12403+6A>GNM_032119.3:c.12403+6A>G, NR_003149.1:n.12416+6A>G, XM_005248613.1:c.5521+6A>GVOUS04/05/2017
223ADGRV1Ex61NM_032119.3:c.12463C>Tp.Pro4155Ser | p.P4155SNM_032119.3:c.12463C>T, NR_003149.1:n.12476C>T, XM_005248613.1:c.5581C>TVOUS08/29/2017
224ADGRV1Ex61NM_032119.3:c.12464C>Tp.Pro4155Leu | p.P4155LNM_032119.3:c.12464C>T, NR_003149.1:n.12477C>T, XM_005248613.1:c.5582C>TVOUS04/03/2018
225ADGRV1Ex61NM_032119.3:c.12527+6G>TNM_032119.3:c.12527+6G>T, NR_003149.1:n.12540+6G>T, XM_005248613.1:c.5645+6G>TLikely benign09/16/2016 
226ADGRV1Ex62NM_032119.3:c.12545G>Tp.Gly4182Val | p.G4182VNM_032119.3:c.12545G>T, NR_003149.1:n.12558G>T, XM_005248613.1:c.5663G>TVOUS03/19/2015
227ADGRV1Ex63NM_032119.3:c.12682A>Gp.Ile4228Val | p.I4228VNM_032119.3:c.12682A>G, NR_003149.1:n.12695A>G, XM_005248613.1:c.5800A>GVOUS01/11/2017
228ADGRV1Ex63NM_032119.3:c.12778G>Tp.Val4260Leu | p.V4260LNM_032119.3:c.12778G>T, NR_003149.1:n.12791G>T, XM_005248613.1:c.5896G>TVOUS06/14/2017
229ADGRV1Ex63NM_032119.3:c.12818A>Gp.His4273Arg | p.H4273RNM_032119.3:c.12818A>G, NR_003149.1:n.12831A>G, XM_005248613.1:c.5936A>GVOUS02/02/2017
230ADGRV1Ex63NM_032119.3:c.12823C>Tp.Gln4275* | p.Q4275XNM_032119.3:c.12823C>T, NR_003149.1:n.12836C>T, XM_005248613.1:c.5941C>TPathogenic04/25/2017 
231ADGRV1Ex64NM_032119.3:c.12931G>Tp.Ala4311Ser | p.A4311SNM_032119.3:c.12931G>T, NR_003149.1:n.12944G>T, XM_005248613.1:c.6049G>TVOUS01/25/2017
232ADGRV1Ex65NM_032119.3:c.13130C>Ap.Pro4377His | p.P4377HNM_032119.3:c.13130C>A, NR_003149.1:n.13143C>A, XM_005248613.1:c.6248C>AVOUS06/26/2017
233ADGRV1Ex65NM_032119.3:c.13153A>Gp.Ile4385Val | p.I4385VNM_032119.3:c.13153A>G, NR_003149.1:n.13166A>G, XM_005248613.1:c.6271A>GVOUS06/03/2016
234ADGRV1Ex67NM_032119.3:c.13485G>Ap.Ala4495= | p.A4495=NM_032119.3:c.13485G>A, NR_003149.1:n.13498G>A, XM_005248613.1:c.6603G>AVOUS11/24/2018
235ADGRV1Ex67NM_032119.3:c.13496G>Ap.Arg4499His | p.R4499HNM_032119.3:c.13496G>A, NR_003149.1:n.13509G>A, XM_005248613.1:c.6614G>AVOUS08/30/2018
236ADGRV1Ex67NM_032119.3:c.13590C>Ap.Pro4530= | p.P4530=NM_032119.3:c.13590C>A, NR_003149.1:n.13603C>A, XM_005248613.1:c.6708C>AVOUS11/24/2018
237ADGRV1Ex67NM_032119.3:c.13621G>Ap.Glu4541Lys | p.E4541KNM_032119.3:c.13621G>A, NR_003149.1:n.13634G>A, XM_005248613.1:c.6739G>AVOUS09/12/2016
238ADGRV1Ex68NM_032119.3:c.13654-7C>TNM_032119.3:c.13654-7C>T, NR_003149.1:n.13667-7C>T, XM_005248613.1:c.6772-7C>TVOUS12/29/2016
239ADGRV1Ex68NM_032119.3:c.13654-5C>TNM_032119.3:c.13654-5C>T, NR_003149.1:n.13667-5C>T, XM_005248613.1:c.6772-5C>TBenign11/11/2015 
240ADGRV1Ex69NM_032119.3:c.13919G>Ap.Gly4640Glu | p.G4640ENM_032119.3:c.13919G>A, NR_003149.1:n.13932G>A, XM_005248613.1:c.7037G>AVOUS10/16/2015
241ADGRV1Ex69NM_032119.3:c.14005T>Cp.Phe4669Leu | p.F4669LNM_032119.3:c.14005T>C, NR_003149.1:n.14018T>C, XM_005248613.1:c.7123T>CVOUS05/27/2014
242ADGRV1Ex69NM_032119.3:c.14028C>Gp.Thr4676= | p.T4676=NM_032119.3:c.14028C>G, NR_003149.1:n.14041C>G, XM_005248613.1:c.7146C>GVOUS10/05/2017
243ADGRV1Ex70NM_032119.3:c.14223C>Tp.Ala4741= | p.A4741=NM_032119.3:c.14223C>T, NR_003149.1:n.14236C>T, XM_005248613.1:c.7341C>TLikely benign05/29/2018 
244ADGRV1Ex70NM_032119.3:c.14304G>Ap.Ser4768= | p.S4768=NM_032119.3:c.14304G>A, NR_003149.1:n.14317G>A, XM_005248613.1:c.7422G>AVOUS11/15/2017
245ADGRV1Ex70NM_032119.3:c.14309G>Ap.Arg4770His | p.R4770HNM_032119.3:c.14309G>A, NR_003149.1:n.14322G>A, XM_005248613.1:c.7427G>ABenign07/04/2014 
246ADGRV1Ex70NM_032119.3:c.14317A>Gp.Ile4773Val | p.I4773VNM_032119.3:c.14317A>G, NR_003149.1:n.14330A>G, XM_005248613.1:c.7435A>GVOUS04/19/2016
247ADGRV1Ex70NM_032119.3:c.14373T>Ap.Ala4791= | p.A4791=NM_032119.3:c.14373T>A, NR_003149.1:n.14386T>A, XM_005248613.1:c.7491T>AVOUS12/07/2015
248ADGRV1Ex70NM_032119.3:c.14432C>Tp.Pro4811Leu | p.P4811LNM_032119.3:c.14432C>T, NR_003149.1:n.14445C>T, XM_005248613.1:c.7550C>TVOUS07/01/2016
249ADGRV1Ex70NM_032119.3:c.14432C>Ap.Pro4811Gln | p.P4811QNM_032119.3:c.14432C>A, NR_003149.1:n.14445C>A, XM_005248613.1:c.7550C>AVOUS09/13/2016
250ADGRV1Ex70NM_032119.3:c.14515C>Gp.Gln4839Glu | p.Q4839ENM_032119.3:c.14515C>G, NR_003149.1:n.14528C>G, XM_005248613.1:c.7633C>GBenign12/27/2016 
251ADGRV1Ex71NM_032119.3:c.14616A>Gp.Ala4872= | p.A4872=NM_032119.3:c.14616A>G, NR_003149.1:n.14629A>G, XM_005248613.1:c.7734A>GVOUS09/02/2016
252ADGRV1Ex71NM_032119.3:c.14654A>Gp.Asn4885Ser | p.N4885SNM_032119.3:c.14654A>G, NR_003149.1:n.14667A>G, XM_005248613.1:c.7772A>GBenign12/08/2015 
253ADGRV1Ex72NM_032119.3:c.14761G>Ap.Ala4921Thr | p.A4921TNM_032119.3:c.14761G>A, NR_003149.1:n.14774G>A, XM_005248613.1:c.7879G>AVOUS03/20/2015
254ADGRV1Ex73NM_032119.3:c.14928C>Tp.His4976= | p.H4976=NM_032119.3:c.14928C>T, NR_003149.1:n.14941C>T, XM_005248613.1:c.8046C>TVOUS07/25/2017
255ADGRV1Ex73NM_032119.3:c.14931A>Gp.Leu4977= | p.L4977=NM_032119.3:c.14931A>G, NR_003149.1:n.14944A>G, XM_005248613.1:c.8049A>GVOUS10/26/2015
256ADGRV1Ex73NM_032119.3:c.14943G>Cp.Gln4981His | p.Q4981HNM_032119.3:c.14943G>C, NR_003149.1:n.14956G>C, XM_005248613.1:c.8061G>CLikely benign04/04/2016 
257ADGRV1Ex73NM_032119.3:c.14959G>Ap.Gly4987Arg | p.G4987RNM_032119.3:c.14959G>A, NR_003149.1:n.14972G>A, XM_005248613.1:c.8077G>AVOUS05/09/2019
258ADGRV1Ex73NM_032119.3:c.14970C>Ap.Leu4990= | p.L4990=NM_032119.3:c.14970C>A, NR_003149.1:n.14983C>A, XM_005248613.1:c.8088C>AVOUS01/29/2015
259ADGRV1Ex74NM_032119.3:c.15059C>Ap.Thr5020Lys | p.T5020KNM_032119.3:c.15059C>A, NR_003149.1:n.15072C>A, XM_005248613.1:c.8177C>AVOUS11/13/2015
260ADGRV1Ex74NM_032119.3:c.15145G>Ap.Ala5049Thr | p.A5049TNM_032119.3:c.15145G>A, NR_003149.1:n.15158G>A, XM_005248613.1:c.8263G>AVOUS09/15/2020
261ADGRV1Ex74NM_032119.3:c.15169C>Tp.Pro5057Ser | p.P5057SNM_032119.3:c.15169C>T, NR_003149.1:n.15182C>T, XM_005248613.1:c.8287C>TVOUS01/26/2016
262ADGRV1Ex74NM_032119.3:c.15177G>Tp.Gln5059His | p.Q5059HNM_032119.3:c.15177G>T, NR_003149.1:n.15190G>T, XM_005248613.1:c.8295G>TVOUS12/11/2017
263ADGRV1Ex74NM_032119.3:c.15334C>Tp.Arg5112Cys | p.R5112CNM_032119.3:c.15334C>T, NR_003149.1:n.15347C>T, XM_005248613.1:c.8452C>TVOUS06/10/2016
264ADGRV1Ex74NM_032119.3:c.15343C>Tp.Leu5115= | p.L5115=NM_032119.3:c.15343C>T, NR_003149.1:n.15356C>T, XM_005248613.1:c.8461C>TBenign12/18/2014 
265ADGRV1Ex74NM_032119.3:c.15608A>Gp.Glu5203Gly | p.E5203GNM_032119.3:c.15608A>G, NR_003149.1:n.15621A>G, XM_005248613.1:c.8726A>GVOUS12/23/2014
266ADGRV1Ex74NM_032119.3:c.15619G>Ap.Val5207Met | p.V5207MNM_032119.3:c.15619G>A, NR_003149.1:n.15632G>A, XM_005248613.1:c.8737G>AVOUS03/16/2015
267ADGRV1Ex74NM_032119.3:c.15669G>Ap.Gly5223= | p.G5223=NM_032119.3:c.15669G>A, NR_003149.1:n.15682G>A, XM_005248613.1:c.8787G>ALikely benign05/29/2018 
268ADGRV1Ex74NM_032119.3:c.15786C>Tp.Phe5262= | p.F5262=NM_032119.3:c.15786C>T, NR_003149.1:n.15799C>T, XM_005248613.1:c.8904C>TVOUS05/26/2016
269ADGRV1Ex74NM_032119.3:c.15832G>Tp.Gly5278Cys | p.G5278CNM_032119.3:c.15832G>T, NR_003149.1:n.15845G>T, XM_005248613.1:c.8950G>TVOUS10/21/2016
270ADGRV1Ex74NM_032119.3:c.15832_15833delGGinsTTNM_032119.3:c.15832_15833delinsTT, NR_003149.1:n.15845_15846delinsTT, XM_005248613.1:c.8950_8951delinsTTVOUS10/28/2016
271ADGRV1Ex74NM_032119.3:c.15833G>Tp.Gly5278Val | p.G5278VNM_032119.3:c.15833G>T, NR_003149.1:n.15846G>T, XM_005248613.1:c.8951G>TVOUS10/21/2016
272ADGRV1Ex74NM_032119.3:c.15837C>Ap.Ile5279= | p.I5279=NM_032119.3:c.15837C>A, NR_003149.1:n.15850C>A, XM_005248613.1:c.8955C>AVOUS07/09/2014
273ADGRV1Ex74NM_032119.3:c.15860G>Ap.Trp5287* | p.W5287XNM_032119.3:c.15860G>A, NR_003149.1:n.15873G>A, XM_005248613.1:c.8978G>APathogenic01/10/2019 
274ADGRV1Ex74NM_032119.3:c.15959A>Tp.Asp5320Val | p.D5320VNM_032119.3:c.15959A>T, NR_003149.1:n.15972A>TVOUS08/14/2013
275ADGRV1Ex74NM_032119.3:c.15984delCp.Tyr5329Thrfs*40 | p.Y5329TfsX40NM_032119.3:c.15984delC, NR_003149.1:n.15997delC, XM_005248613.1:c.9102delCPathogenic06/19/2017 
276ADGRV1Ex74NM_032119.3:c.15987C>Tp.Tyr5329= | p.Y5329=NM_032119.3:c.15987C>T, NR_003149.1:n.16000C>T, XM_005248613.1:c.9105C>TVOUS03/22/2016
277ADGRV1Ex74NM_032119.3:c.16009G>Tp.Gly5337Trp | p.G5337WNM_032119.3:c.16009G>T, NR_003149.1:n.16022G>T, XM_005248613.1:c.9127G>TVOUS01/10/2018
278ADGRV1Ex74NM_032119.3:c.16031A>Gp.Glu5344Gly | p.E5344GNM_032119.3:c.16031A>G, NR_003149.1:n.16044A>GBenign03/06/2013 
279ADGRV1Ex76NM_032119.3:c.16226G>Ap.Arg5409Gln | p.R5409QNM_032119.3:c.16226G>A, NR_003149.1:n.16239G>A, XM_005248613.1:c.9344G>AVOUS01/22/2016
280ADGRV1Ex76NM_032119.3:c.16248C>Gp.Val5416= | p.V5416=NM_032119.3:c.16248C>G, NR_003149.1:n.16261C>G, XM_005248613.1:c.9366C>GVOUS07/05/2016
281ADGRV1Ex76NM_032119.3:c.16279G>Ap.Val5427Met | p.V5427MNM_032119.3:c.16279G>A, NR_003149.1:n.16292G>A, XM_005248613.1:c.9397G>ABenign07/15/2014 
282ADGRV1Ex76NM_032119.3:c.16285G>Ap.Glu5429Lys | p.E5429KNM_032119.3:c.16285G>A, NR_003149.1:n.16298G>A, XM_005248613.1:c.9403G>AVOUS12/07/2018
283ADGRV1Ex76NM_032119.3:c.16312A>Gp.Thr5438Ala | p.T5438ANM_032119.3:c.16312A>G, NR_003149.1:n.16325A>G, XM_005248613.1:c.9430A>GVOUS06/22/2016
284ADGRV1Ex76NM_032119.3:c.16325G>Ap.Gly5442Asp | p.G5442DNM_032119.3:c.16325G>A, NR_003149.1:n.16338G>A, XM_005248613.1:c.9443G>AVOUS09/01/2017
285ADGRV1Ex76NM_032119.3:c.16331C>Ap.Thr5444Lys | p.T5444KNM_032119.3:c.16331C>A, NR_003149.1:n.16344C>A, XM_005248613.1:c.9449C>AVOUS02/03/2015
286ADGRV1Ex78NM_032119.3:c.16640G>Ap.Arg5547His | p.R5547HNM_032119.3:c.16640G>A, NR_003149.1:n.16653G>A, XM_005248613.1:c.9758G>AVOUS10/14/2016
287ADGRV1Ex78NM_032119.3:c.16745C>Tp.Thr5582Met | p.T5582MNM_032119.3:c.16745C>T, NR_003149.1:n.16758C>T, XM_005248613.1:c.9863C>TVOUS10/13/2014
288ADGRV1Ex78NM_032119.3:c.16811G>Ap.Gly5604Asp | p.G5604DNM_032119.3:c.16811G>A, NR_003149.1:n.16824G>A, XM_005248613.1:c.9929G>AVOUS02/16/2015
289ADGRV1Ex78NM_032119.3:c.16963G>Ap.Val5655Met | p.V5655MNM_032119.3:c.16963G>A, NR_003149.1:n.16976G>A, XM_005248613.1:c.10081G>AVOUS11/15/2017
290ADGRV1Ex78NM_032119.3:c.16994G>Cp.Ser5665Thr | p.S5665TNM_032119.3:c.16994G>C, NR_003149.1:n.17007G>C, XM_005248613.1:c.10112G>CVOUS02/02/2017
291ADGRV1Ex78NM_032119.3:c.17017A>Gp.Lys5673Glu | p.K5673ENM_032119.3:c.17017A>G, NR_003149.1:n.17030A>G, XM_005248613.1:c.10135A>GBenign10/31/2014 
292ADGRV1Ex79NM_032119.3:c.17063G>Ap.Arg5688Gln | p.R5688QNM_032119.3:c.17063G>A, NR_003149.1:n.17076G>A, XM_005248613.1:c.10181G>AVOUS03/14/2019
293ADGRV1Ex79NM_032119.3:c.17108G>Ap.Arg5703His | p.R5703HNM_032119.3:c.17108G>A, NR_003149.1:n.17121G>A, XM_005248613.1:c.10226G>AVOUS06/30/2016
294ADGRV1Ex79NM_032119.3:c.17187C>Tp.Cys5729= | p.C5729=NM_032119.3:c.17187C>T, NR_003149.1:n.17200C>T, XM_005248613.1:c.10305C>TVOUS08/03/2016
295ADGRV1Ex79NM_032119.3:c.17204+4A>TNM_032119.3:c.17204+4A>T, NR_003149.1:n.17217+4A>T, XM_005248613.1:c.10322+4A>TVOUS10/06/2016
296ADGRV1Ex79NM_032119.3:c.17204+5G>AVOUS02/25/2020
297ADGRV1Ex80NM_032119.3:c.17215A>Gp.Ile5739Val | p.I5739VNM_032119.3:c.17215A>G, NR_003149.1:n.17228A>G, XM_005248613.1:c.10333A>GVOUS11/13/2015
298ADGRV1Ex80NM_032119.3:c.17342A>Gp.Gln5781Arg | p.Q5781RNM_032119.3:c.17342A>G, NR_003149.1:n.17355A>G, XM_005248613.1:c.10460A>GVOUS01/22/2015
299ADGRV1Ex80NM_032119.3:c.17349A>Gp.Ala5783= | p.A5783=NM_032119.3:c.17349A>G, NR_003149.1:n.17362A>G, XM_005248613.1:c.10467A>GVOUS11/21/2016
300ADGRV1Ex80NM_032119.3:c.17388G>Ap.Gln5796= | p.Q5796=NM_032119.3:c.17388G>A, NR_003149.1:n.17401G>A, XM_005248613.1:c.10506G>AVOUS03/23/2017
301ADGRV1Ex81NM_032119.3:c.17528A>Gp.Tyr5843Cys | p.Y5843CNM_032119.3:c.17528A>G, NR_003149.1:n.17541A>G, XM_005248613.1:c.10646A>GVOUS04/19/2016
302ADGRV1Ex82NM_032119.3:c.17613G>Ap.Gln5871= | p.Q5871=NM_032119.3:c.17613G>A, NR_003149.1:n.17626G>A, XM_005248613.1:c.10731G>AVOUS09/30/2016
303ADGRV1Ex82NM_032119.3:c.17626G>Ap.Val5876Ile | p.V5876INM_032119.3:c.17626G>A, NR_003149.1:n.17639G>A, XM_005248613.1:c.10744G>ABenign09/06/2018 
304ADGRV1Ex82NM_032119.3:c.17669T>Ap.Met5890Lys | p.M5890KNM_032119.3:c.17669T>A, NR_003149.1:n.17682T>A, XM_005248613.1:c.10787T>AVOUS04/14/2015
305ADGRV1Ex82NM_032119.3:c.17735C>Gp.Ser5912Cys | p.S5912CNM_032119.3:c.17735C>G, NR_003149.1:n.17748C>G, XM_005248613.1:c.10853C>GBenign12/18/2014 
306ADGRV1Ex83NM_032119.3:c.17758C>Ap.Leu5920Ile | p.L5920INM_032119.3:c.17758C>A, NR_003149.1:n.17771C>A, XM_005248613.1:c.10876C>AVOUS09/28/2015
307ADGRV1Ex83NM_032119.3:c.17794A>Cp.Arg5932= | p.R5932=NM_032119.3:c.17794A>C, NR_003149.1:n.17807A>C, XM_005248613.1:c.10912A>CVOUS04/04/2017
308ADGRV1Ex84NM_032119.3:c.17857-6T>CNM_032119.3:c.17857-6T>C, NR_003149.1:n.17870-6T>C, XM_005248613.1:c.10975-6T>CVOUS06/25/2015
309ADGRV1Ex84NM_032119.3:c.17869G>Ap.Ala5957Thr | p.A5957TNM_032119.3:c.17869G>A, NR_003149.1:n.17882G>A, XM_005248613.1:c.10987G>AVOUS06/05/2017
310ADGRV1Ex84NM_032119.3:c.17884A>Tp.Ser5962Cys | p.S5962CNM_032119.3:c.17884A>T, NR_003149.1:n.17897A>T, XM_005248613.1:c.11002A>TVOUS06/23/2016
311ADGRV1Ex84NM_032119.3:c.17920G>Tp.Ala5974Ser | p.A5974SNM_032119.3:c.17920G>T, NR_003149.1:n.17933G>T, XM_005248613.1:c.11038G>TVOUS02/21/2018
312ADGRV1Ex84NM_032119.3:c.17933A>Gp.His5978Arg | p.H5978RNM_032119.3:c.17933A>G, NR_003149.1:n.17946A>G, XM_005248613.1:c.11051A>GVOUS07/25/2016
313ADGRV1Ex84NM_032119.3:c.17973+7A>GNM_032119.3:c.17973+7A>G, NR_003149.1:n.17986+7A>G, XM_005248613.1:c.11091+7A>GVOUS07/29/2016
314ADGRV1Ex85NM_032119.3:c.18144T>Cp.His6048= | p.H6048=NM_032119.3:c.18144T>C, NR_003149.1:n.18157T>C, XM_005248613.1:c.11262T>CVOUS03/28/2016
315ADGRV1Ex86NM_032119.3:c.18229G>Ap.Val6077Met | p.V6077MNM_032119.3:c.18229G>A, NR_003149.1:n.18242G>A, XM_005248613.1:c.11347G>AVOUS06/13/2017
316ADGRV1Ex86NM_032119.3:c.18273A>Gp.Ala6091= | p.A6091=NM_032119.3:c.18273A>G, NR_003149.1:n.18286A>G, XM_005248613.1:c.11391A>GBenign12/16/2014 
317ADGRV1Ex87NM_032119.3:c.18311-9dupTNM_032119.3:c.18311-9_18311-8insT, NR_003149.1:n.18324-9_18324-8insT, XM_005248613.1:c.11429-9_11429-8insTBenign03/11/2015 
318ADGRV1Ex87NM_032119.3:c.18348C>Tp.Ser6116= | p.S6116=NM_032119.3:c.18348C>T, NR_003149.1:n.18361C>T, XM_005248613.1:c.11466C>TVOUS10/04/2016
319ADGRV1Ex87NM_032119.3:c.18402G>Tp.Leu6134Phe | p.L6134FNM_032119.3:c.18402G>T, NR_003149.1:n.18415G>T, XM_005248613.1:c.11520G>TVOUS07/09/2015
320ADGRV1Ex88NM_032119.3:c.18433-9_18433-5delTTTTTNM_032119.3:c.18433-9_18433-5delTTTTT, NR_003149.1:n.18446-9_18446-5delTTTTT, XM_005248613.1:c.11551-9_11551-5delTTTTTVOUS03/08/2017
321ADGRV1Ex88NM_032119.3:c.18433-7_18433-5delTTTNM_032119.3:c.18433-7_18433-5delTTT, NR_003149.1:n.18446-7_18446-5delTTT, XM_005248613.1:c.11551-7_11551-5delTTTLikely benign01/12/2015 
322ADGRV1Ex88NM_032119.3:c.18433-5delTNM_032119.3:c.18433-5delT, NR_003149.1:n.18446-5delT, XM_005248613.1:c.11551-5delTBenign05/17/2016 
323ADGRV1Ex88NM_032119.3:c.18433-5dupTNM_032119.3:c.18433-5_18433-4insT, NM_032119.3:c.18433-5dupT, NR_003149.1:n.18446-5_18446-4insT, NR_003149.1:n.18446-5dupT, XM_005248613.1:c.11551-5_11551-4insT, XM_005248613.1:c.11551-5dupTLikely benign07/06/2016 
324ADGRV1Ex88NM_032119.3:c.18475A>Gp.Met6159Val | p.M6159VNM_032119.3:c.18475A>G, NR_003149.1:n.18488A>G, XM_005248613.1:c.11593A>GBenign05/15/2015 
325ADGRV1Ex89NM_032119.3:c.18746T>Gp.Leu6249Arg | p.L6249RNM_032119.3:c.18746T>G, NR_003149.1:n.18759T>G, XM_005248613.1:c.11864T>GLikely benign03/28/2016 
326ADGRV1Ex89NM_032119.3:c.18782T>Cp.Leu6261Ser | p.L6261SNM_032119.3:c.18782T>C, NR_003149.1:n.18795T>C, XM_005248613.1:c.11900T>CVOUS11/20/2017
327ADGRV1Ex90NM_032119.3:c.18804T>Gp.Gly6268= | p.G6268=NM_032119.3:c.18804T>G, NR_003149.1:n.18817T>G, XM_005248613.1:c.11922T>GLikely benign08/05/2014 
328ADGRV1Ex90NM_032119.3:c.18879C>Tp.Ile6293= | p.I6293=NM_032119.3:c.18879C>T, NR_003149.1:n.18892C>T, XM_005248613.1:c.11997C>TVOUS04/17/2017
329ADGRV1Ex90NM_032119.3:c.18884A>Cp.Glu6295Ala | p.E6295ANM_032119.3:c.18884A>C, NR_003149.1:n.18897A>C, XM_005248613.1:c.12002A>CVOUS04/16/2018

* 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.