"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ADGRV1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 904713	NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)	ADGRV1 (T46I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1012515	NM_032119.4(ADGRV1):c.296C>T (p.Ala99Val)	ADGRV1 (A99V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 196564	NM_032119.4(ADGRV1):c.357+8C>T	ADGRV1	Single nucleotide variant (intron variant)	ADGRV1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2655584	NM_032119.4(ADGRV1):c.361C>A (p.Pro121Thr)	ADGRV1 (P121T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 425349	NM_032119.4(ADGRV1):c.442T>C (p.Ser148Pro)	ADGRV1 (S148P)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3027152	NM_032119.4(ADGRV1):c.454-3T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 46374	NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)	ADGRV1 (R249K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158643	NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	ADGRV1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 284591	NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 163563	NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)	ADGRV1 (I508L)	Single nucleotide variant (missense variant +1 more)	ADGRV1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 871781	NM_032119.4(ADGRV1):c.1608C>A (p.Tyr536Ter)	ADGRV1 (Y536*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 46290	NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)	ADGRV1 (G573V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137500	NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)	ADGRV1 (V617M)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3067675	NM_032119.4(ADGRV1):c.2113G>A (p.Asp705Asn)	ADGRV1 (D705N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1143809	NM_032119.4(ADGRV1):c.2478G>A (p.Thr826=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 853185	NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)	ADGRV1 (T879M)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 809773	NM_032119.4(ADGRV1):c.2660A>G (p.His887Arg)	ADGRV1 (H887R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 872344	NM_032119.4(ADGRV1):c.2790G>A (p.Trp930Ter)	ADGRV1 (W930*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 282971	NM_032119.4(ADGRV1):c.3022+8T>C	ADGRV1	Single nucleotide variant (intron variant)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 46311	NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)	ADGRV1 (D1051Y)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 46312	NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)	ADGRV1 (E1064A)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 178357	NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46316	NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)	ADGRV1 (G1148D)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 46318	NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)	ADGRV1 (Y1170C)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 2655585	NM_032119.4(ADGRV1):c.3600T>C (p.Asn1200=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 546975	NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)	ADGRV1 (T1325M)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 907151	NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 46322	NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3027284	NM_032119.4(ADGRV1):c.4036C>A (p.Pro1346Thr)	ADGRV1 (P1346T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 679377	NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178360	NM_032119.4(ADGRV1):c.4149C>T (p.Tyr1383=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	ADGRV1-related condition +2 more	GLikely benign
Select item 710731	NM_032119.4(ADGRV1):c.4170C>T (p.Asn1390=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 46325	NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)	ADGRV1 (S1405F)	Single nucleotide variant (missense variant +1 more)	ADGRV1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 46326	NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Febrile seizures, familial, 4 +3 more	GBenign/Likely benign
Select item 46327	NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 110040	NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)	ADGRV1 (A1503T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +3 more	GConflicting classifications of pathogenicity
Select item 905697	NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585370	NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile)	ADGRV1 (V1596I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 46331	NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val)	ADGRV1 (I1647V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227407	NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)	ADGRV1 (T1691M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3027199	NM_032119.4(ADGRV1):c.5172A>C (p.Ala1724=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 46333	NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167156	NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)	ADGRV1 (F1765L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46337	NM_032119.4(ADGRV1):c.5525-7C>T	ADGRV1	Single nucleotide variant (intron variant)	Febrile seizures, familial, 4 +4 more	GBenign/Likely benign
Select item 809774	NM_032119.4(ADGRV1):c.5560A>G (p.Ile1854Val)	ADGRV1 (I1854V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 46342	NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)	ADGRV1 (D1944N)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1664178	NM_032119.4(ADGRV1):c.5856C>T (p.Leu1952=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1626947	NM_032119.4(ADGRV1):c.5898G>C (p.Thr1966=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 46348	NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)	ADGRV1 (G2045R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46351	NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)	ADGRV1 (A2106V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178361	NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln)	ADGRV1 (R2128Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 46354	NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)	ADGRV1 (V2203A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 46359	NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)	ADGRV1 (I2332F)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46363	NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 46364	NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 46377	NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)	ADGRV1 (P2528S)	Single nucleotide variant (missense variant +1 more)	Meniere disease +3 more	GConflicting classifications of pathogenicity
Select item 809775	NM_032119.4(ADGRV1):c.7718A>G (p.Asn2573Ser)	ADGRV1 (N2573S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655586	NM_032119.4(ADGRV1):c.8028G>A (p.Val2676=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 904003	NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 809776	NM_032119.4(ADGRV1):c.8050A>G (p.Ile2684Val)	ADGRV1 (I2684V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46383	NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)	ADGRV1 (I2704F)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4 +4 more	GConflicting classifications of pathogenicity
Select item 46386	NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)	ADGRV1 (I2721V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 288996	NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)	ADGRV1 (G2801R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 948286	NM_032119.4(ADGRV1):c.8469T>G (p.His2823Gln)	ADGRV1 (H2823Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 46396	NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)	ADGRV1 (E2897D)	Single nucleotide variant (missense variant +1 more)	ADGRV1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 498919	NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)	ADGRV1 (M2931V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 46402	NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 46404	NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)	ADGRV1 (R3147Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163588	NM_032119.4(ADGRV1):c.9447+6G>A	ADGRV1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163589	NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158655	NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)	ADGRV1 (A3217V)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1020011	NM_032119.4(ADGRV1):c.9940G>A (p.Ala3314Thr)	ADGRV1 (A3314T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1508170	NM_032119.4(ADGRV1):c.10142A>G (p.Asp3381Gly)	ADGRV1 (D3381G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 46246	NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1701479	NM_032119.4(ADGRV1):c.10309T>C (p.Trp3437Arg)	ADGRV1 (W3437R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46247	NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys)	ADGRV1 (E3447K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 178363	NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46251	NM_032119.4(ADGRV1):c.10769+9A>G	ADGRV1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1012516	NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs)	ADGRV1 (S3646fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 163597	NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)	ADGRV1 (S3646P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2655587	NM_032119.4(ADGRV1):c.10939A>C (p.Asn3647His)	ADGRV1 (N3647H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655588	NM_032119.4(ADGRV1):c.11692A>G (p.Ile3898Val)	ADGRV1 (I3898V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 497242	NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178365	NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)	ADGRV1 (D3992N)	Single nucleotide variant (missense variant +1 more)	ADGRV1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 809777	NM_032119.4(ADGRV1):c.12125T>C (p.Met4042Thr)	ADGRV1 (M4042T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 178366	NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)	ADGRV1 (R4071Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46259	NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn)	ADGRV1 (T4090N)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3067676	NM_032119.4(ADGRV1):c.12406A>T (p.Ser4136Cys)	ADGRV1 (S4136C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498974	NM_032119.4(ADGRV1):c.12456del (p.Gly4152_Ile4153insTer)	ADGRV1	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3067662	NM_032119.4(ADGRV1):c.12786C>A (p.Ser4262Arg)	ADGRV1 (S4262R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 872345	NM_032119.4(ADGRV1):c.12895C>T (p.Arg4299Ter)	ADGRV1 (R4299*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 680190	NM_032119.4(ADGRV1):c.12978A>G (p.Ala4326=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 754075	NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1298997	NM_032119.4(ADGRV1):c.13653+6T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2655589	NM_032119.4(ADGRV1):c.13964C>T (p.Ser4655Leu)	ADGRV1 (S4655L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 597167	NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46270	NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)	ADGRV1 (R4770H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 747839	NM_032119.4(ADGRV1):c.14415G>A (p.Ser4805=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655590	NM_032119.4(ADGRV1):c.15301G>A (p.Gly5101Arg)	ADGRV1 (G5101R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46280	NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)	ADGRV1 (E5203G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

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