ADGRV1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445626	NC_000005.10:g.90118339_90119245del	ADGRV1	Deletion	Usher syndrome type 2C	GPathogenic
Select item 1249930	NC_000005.10:g.90558495C>G	ADGRV1	Single nucleotide variant	not provided	GBenign
Select item 671524	NM_032119.3(ADGRV1):c.-388A>G	ADGRV1	Single nucleotide variant	not provided	GBenign
Select item 1210776	NC_000005.10:g.90558750G>A	ADGRV1	Single nucleotide variant	not provided	GLikely benign
Select item 598152	NM_032119.4(ADGRV1):c.-98G>A	ADGRV1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 908026	NM_032119.4(ADGRV1):c.-67A>T	ADGRV1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 679376	NM_032119.4(ADGRV1):c.-47G>C	ADGRV1	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 2C +1 more	GBenign
Select item 137498	NM_032119.4(ADGRV1):c.-44C>T	ADGRV1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 228719	NM_032119.4(ADGRV1):c.-26_-9del	ADGRV1	Deletion (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 178840	NM_032119.4(ADGRV1):c.-11G>A	ADGRV1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2823237	NM_032119.4(ADGRV1):c.1A>T (p.Met1Leu)	ADGRV1 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2430778	NM_032119.4(ADGRV1):c.3G>A (p.Met1Ile)	ADGRV1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2714336	NM_032119.4(ADGRV1):c.6G>C (p.Ser2=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 740246	NM_032119.4(ADGRV1):c.6G>T (p.Ser2=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1205303	NM_032119.4(ADGRV1):c.22+309A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701739	NM_032119.4(ADGRV1):c.22+25188A>C	ADGRV1	Single nucleotide variant (intron variant)	Febrile seizures, familial, 4	GUncertain significance
Select item 1264626	NM_032119.4(ADGRV1):c.23-130G>A	ADGRV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187837	NM_032119.4(ADGRV1):c.23-93T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800100	NM_032119.4(ADGRV1):c.23-14del	ADGRV1	Deletion (intron variant)	not provided	GBenign
Select item 2994752	NM_032119.4(ADGRV1):c.23-19T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998477	NM_032119.4(ADGRV1):c.23-13C>A	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 666648	NM_032119.4(ADGRV1):c.23-13C>G	ADGRV1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1147448	NM_032119.4(ADGRV1):c.23-9T>A	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1106181	NM_032119.4(ADGRV1):c.23-6T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990667	NM_032119.4(ADGRV1):c.23-1G>A	ADGRV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1915506	NM_032119.4(ADGRV1):c.24G>T (p.Gly8=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2097850	NM_032119.4(ADGRV1):c.35C>T (p.Ala12Val)	ADGRV1 (A12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1090226	NM_032119.4(ADGRV1):c.36A>C (p.Ala12=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751928	NM_032119.4(ADGRV1):c.47del (p.Val16fs)	ADGRV1 (V16fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2811486	NM_032119.4(ADGRV1):c.63T>C (p.Ala21=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007379	NM_032119.4(ADGRV1):c.69C>T (p.Leu23=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2024441	NM_032119.4(ADGRV1):c.72C>T (p.Ile24=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2726155	NM_032119.4(ADGRV1):c.75A>G (p.Leu25=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2720429	NM_032119.4(ADGRV1):c.81G>A (p.Val27=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1363393	NM_032119.4(ADGRV1):c.84T>G (p.Phe28Leu)	ADGRV1 (F28L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1052569	NM_032119.4(ADGRV1):c.86G>A (p.Gly29Glu)	ADGRV1 (G29E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078976	NM_032119.4(ADGRV1):c.87A>T (p.Gly29=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2862494	NM_032119.4(ADGRV1):c.102A>G (p.Arg34=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1372605	NM_032119.4(ADGRV1):c.113A>G (p.Gln38Arg)	ADGRV1 (Q38R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2850078	NM_032119.4(ADGRV1):c.114A>G (p.Gln38=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 853661	NM_032119.4(ADGRV1):c.121T>A (p.Phe41Ile)	ADGRV1 (F41I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477728	NM_032119.4(ADGRV1):c.124G>A (p.Val42Ile)	ADGRV1 (V42I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 936452	NM_032119.4(ADGRV1):c.125T>A (p.Val42Asp)	ADGRV1 (V42D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2878226	NM_032119.4(ADGRV1):c.126T>G (p.Val42=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947868	NM_032119.4(ADGRV1):c.132T>C (p.Asn44=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2850213	NM_032119.4(ADGRV1):c.144A>G (p.Thr48=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783654	NM_032119.4(ADGRV1):c.146C>G (p.Thr49Arg)	ADGRV1 (T49R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3341984	NM_032119.4(ADGRV1):c.152T>C (p.Ile51Thr)	ADGRV1 (I51T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138228	NM_032119.4(ADGRV1):c.154C>T (p.Arg52Cys)	ADGRV1 (R52C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 285514	NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)	ADGRV1 (R52H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904714	NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys)	ADGRV1 (R57K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +1 more	GConflicting classifications of pathogenicity
Select item 2800795	NM_032119.4(ADGRV1):c.177A>G (p.Gly59=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405606	NM_032119.4(ADGRV1):c.180G>C (p.Glu60Asp)	ADGRV1 (E60D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1052523	NM_032119.4(ADGRV1):c.182C>T (p.Pro61Leu)	ADGRV1 (P61L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1407248	NM_032119.4(ADGRV1):c.188A>G (p.Asn63Ser)	ADGRV1 (N63S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2030509	NM_032119.4(ADGRV1):c.192del (p.Thr65fs)	ADGRV1 (T65fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 904715	NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val)	ADGRV1 (I67V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GUncertain significance
Select item 1509504	NM_032119.4(ADGRV1):c.202G>A (p.Val68Ile)	ADGRV1 (V68I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1360186	NM_032119.4(ADGRV1):c.202G>T (p.Val68Leu)	ADGRV1 (V68L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2881623	NM_032119.4(ADGRV1):c.204A>G (p.Val68=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2162184	NM_032119.4(ADGRV1):c.206C>T (p.Ser69Leu)	ADGRV1 (S69L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 178353	NM_032119.4(ADGRV1):c.207+3A>G	ADGRV1	Single nucleotide variant (intron variant)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 1128358	NM_032119.4(ADGRV1):c.207+8A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290006	NM_032119.4(ADGRV1):c.207+82_207+85del	ADGRV1	Deletion (intron variant)	not provided	GBenign
Select item 1194757	NM_032119.4(ADGRV1):c.207+220G>T	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959656	NM_032119.4(ADGRV1):c.208-18A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728591	NM_032119.4(ADGRV1):c.208-6del	ADGRV1	Deletion (intron variant)	not provided	GLikely benign
Select item 2714500	NM_032119.4(ADGRV1):c.208-7T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 959869	NM_032119.4(ADGRV1):c.208-4A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2041447	NM_032119.4(ADGRV1):c.209T>C (p.Leu70Pro)	ADGRV1 (L70P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1408377	NM_032119.4(ADGRV1):c.212A>G (p.Tyr71Cys)	ADGRV1 (Y71C)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1472228	NM_032119.4(ADGRV1):c.220G>A (p.Asp74Asn)	ADGRV1 (D74N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 227403	NM_032119.4(ADGRV1):c.222C>T (p.Asp74=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1921111	NM_032119.4(ADGRV1):c.223G>A (p.Ala75Thr)	ADGRV1 (A75T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2503090	NM_032119.4(ADGRV1):c.227del (p.Gly76fs)	ADGRV1 (G76fs)	Deletion (frameshift variant +1 more)	Usher syndrome	GPathogenic
Select item 2098303	NM_032119.4(ADGRV1):c.228T>G (p.Gly76=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826683	NM_032119.4(ADGRV1):c.243A>C (p.Thr81=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743663	NM_032119.4(ADGRV1):c.243A>G (p.Thr81=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 666639	NM_032119.4(ADGRV1):c.243A>T (p.Thr81=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 850473	NM_032119.4(ADGRV1):c.245A>G (p.Tyr82Cys)	ADGRV1 (Y82C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2778972	NM_032119.4(ADGRV1):c.252A>T (p.Ala84=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1364591	NM_032119.4(ADGRV1):c.254C>G (p.Ala85Gly)	ADGRV1 (A85G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1341765	NM_032119.4(ADGRV1):c.259A>G (p.Ile87Val)	ADGRV1 (I87V)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GUncertain significance
Select item 2024727	NM_032119.4(ADGRV1):c.263_264del (p.Pro88fs)	ADGRV1 (P88fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1709293	NM_032119.4(ADGRV1):c.263C>T (p.Pro88Leu)	ADGRV1 (P88L)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 4	GUncertain significance
Select item 502631	NM_032119.4(ADGRV1):c.265G>A (p.Ala89Thr)	ADGRV1 (A89T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 196563	NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 2C +1 more	GConflicting classifications of pathogenicity
Select item 965477	NM_032119.4(ADGRV1):c.268G>A (p.Gly90Arg)	ADGRV1 (G90R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2840447	NM_032119.4(ADGRV1):c.281_282del (p.Arg94fs)	ADGRV1 (R94fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1717570	NM_032119.4(ADGRV1):c.283A>C (p.Thr95Pro)	ADGRV1 (T95P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934488	NM_032119.4(ADGRV1):c.287T>C (p.Val96Ala)	ADGRV1 (V96A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972717	NM_032119.4(ADGRV1):c.292A>G (p.Ile98Val)	ADGRV1 (I98V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2100107	NM_032119.4(ADGRV1):c.298G>A (p.Val100Ile)	ADGRV1 (V100I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1419322	NM_032119.4(ADGRV1):c.298G>C (p.Val100Leu)	ADGRV1 (V100L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1631798	NM_032119.4(ADGRV1):c.300A>G (p.Val100=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 228720	NM_032119.4(ADGRV1):c.305A>G (p.Asp102Gly)	ADGRV1 (D102G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2800505	NM_032119.4(ADGRV1):c.306T>C (p.Asp102=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012532	NM_032119.4(ADGRV1):c.312C>T (p.Asp104=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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