RPE65[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	LOC129930731, LOC129930732 +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 875931	NM_000329.3(RPE65):c.*946C>T	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 298010	NM_000329.3(RPE65):c.*915C>G	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 875932	NM_000329.3(RPE65):c.*886T>C	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 298011	NM_000329.3(RPE65):c.*760A>C	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 298012	NM_000329.3(RPE65):c.*735del	RPE65	Deletion (3 prime UTR variant)	Leber congenital amaurosis +1 more	GUncertain significance
Select item 876922	NM_000329.3(RPE65):c.*680G>A	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GLikely benign
Select item 876923	NM_000329.3(RPE65):c.*630C>T	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 298013	NM_000329.3(RPE65):c.*611G>A	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 298014	NM_000329.3(RPE65):c.*588C>A	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 874132	NM_000329.3(RPE65):c.*560C>T	RPE65	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 874133	NM_000329.3(RPE65):c.*554C>T	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 875064	NM_000329.3(RPE65):c.*546A>C	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 298015	NM_000329.3(RPE65):c.*531A>G	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 298016	NM_000329.3(RPE65):c.*517G>A	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 298017	NM_000329.3(RPE65):c.*511G>A	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 875990	NM_000329.3(RPE65):c.*424C>A	RPE65	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 875991	NM_000329.3(RPE65):c.*341T>C	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GLikely benign
Select item 875992	NM_000329.3(RPE65):c.*339A>G	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 875993	NM_000329.3(RPE65):c.*192A>G	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 876975	NM_000329.3(RPE65):c.*128G>A	RPE65	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 973968	NM_000329.3(RPE65):c.1596dup (p.Ser533fs)	RPE65 (S533fs)	Duplication (frameshift variant)	Leber congenital amaurosis 2	GPathogenic
Select item 870342	NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)	RPE65 (S533T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 2941661	NM_000329.3(RPE65):c.1596A>G (p.Lys532=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1470027	NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)	RPE65 (F530L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 98850	NM_000329.3(RPE65):c.1590del (p.Phe530fs)	RPE65 (F530fs)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 2935518	NM_000329.3(RPE65):c.1587G>C (p.Leu529=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1538297	NM_000329.3(RPE65):c.1584A>G (p.Gly528=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 801494	NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)	RPE65 (G528V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2	GPathogenic/Likely pathogenic
Select item 941838	NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg)	RPE65 (G528R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1086803	NM_000329.3(RPE65):c.1581T>C (p.His527=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 1445004	NM_000329.3(RPE65):c.1580A>G (p.His527Arg)	RPE65 (H527R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2031618	NM_000329.3(RPE65):c.1578T>C (p.Phe526=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 1078428	NM_000329.3(RPE65):c.1575C>T (p.Thr525=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 990165	NM_000329.3(RPE65):c.1574C>A (p.Thr525Asn)	RPE65 (T525N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GUncertain significance
Select item 2947886	NM_000329.3(RPE65):c.1563C>T (p.Asn521=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2429668	NM_000329.3(RPE65):c.1562A>T (p.Asn521Ile)	RPE65 (N429I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115231	NM_000329.3(RPE65):c.1560T>A (p.Ile520=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 98849	NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)	RPE65 (I520T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1481159	NM_000329.3(RPE65):c.1555G>A (p.Glu519Lys)	RPE65 (E519K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 2933501	NM_000329.3(RPE65):c.1554G>A (p.Val518=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1079693	NM_000329.3(RPE65):c.1548T>C (p.Ala516=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 1571014	NM_000329.3(RPE65):c.1545G>A (p.Arg515=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 1052287	NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln)	RPE65 (R515Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 13120	NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	RPE65 (R515W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 2934111	NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)	RPE65 (E420K +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 841793	NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)	RPE65 (S511R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 1003017	NM_000329.3(RPE65):c.1532G>A (p.Ser511Asn)	RPE65 (S511N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2133479	NM_000329.3(RPE65):c.1528T>C (p.Leu510=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1717649	NM_000329.3(RPE65):c.1525G>A (p.Asp509Asn)	RPE65 (D417N +2 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1977498	NM_000329.3(RPE65):c.1524G>C (p.Lys508Asn)	RPE65 (K416N +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 1482021	NM_000329.3(RPE65):c.1524G>A (p.Lys508=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 845835	NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)	RPE65 (A507S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GUncertain significance
Select item 1577577	NM_000329.3(RPE65):c.1518T>C (p.Asn506=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1092274	NM_000329.3(RPE65):c.1515G>A (p.Leu505=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2953467	NM_000329.3(RPE65):c.1513C>T (p.Leu505=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1532842	NM_000329.3(RPE65):c.1509G>A (p.Leu503=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1384701	NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs)	RPE65 (Y501fs)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 2678445	NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)	RPE65 (Y409* +2 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2	GPathogenic
Select item 596679	NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu)	RPE65 (P499L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GUncertain significance
Select item 798112	NM_000329.3(RPE65):c.1491A>G (p.Gln497=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 1056969	NM_000329.3(RPE65):c.1486G>A (p.Gly496Arg)	RPE65 (G496R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1096776	NM_000329.3(RPE65):c.1485A>C (p.Ala495=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +2 more	GLikely benign
Select item 3028822	NM_000329.3(RPE65):c.1484C>A (p.Ala495Glu)	RPE65 (A403E +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1101260	NM_000329.3(RPE65):c.1476C>T (p.Ser492=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2199664	NM_000329.3(RPE65):c.1473G>A (p.Val491=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1107344	NM_000329.3(RPE65):c.1473G>C (p.Val491=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 1547379	NM_000329.3(RPE65):c.1464T>C (p.Ser488=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1995413	NM_000329.3(RPE65):c.1461G>C (p.Leu487=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2019400	NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer)	RPE65	Deletion (nonsense +1 more)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 1102242	NM_000329.3(RPE65):c.1459C>T (p.Leu487=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 1530751	NM_000329.3(RPE65):c.1458T>A (p.Val486=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2027835	NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)	RPE65 (V394I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1350973	NM_000329.3(RPE65):c.1456G>T (p.Val486Phe)	RPE65 (V486F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 1993769	NM_000329.3(RPE65):c.1455A>G (p.Val485=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 990166	NM_000329.3(RPE65):c.1454T>C (p.Val485Ala)	RPE65 (V485A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GUncertain significance
Select item 1576321	NM_000329.3(RPE65):c.1452T>A (p.Gly484=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 813222	NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)	RPE65 (G484V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +2 more	GPathogenic
Select item 98848	NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	RPE65 (G484D)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 1321180	NM_000329.3(RPE65):c.1451-1G>A	RPE65	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 20 +1 more	GPathogenic/Likely pathogenic
Select item 1213914	NM_000329.3(RPE65):c.1451-2del	RPE65	Deletion (splice acceptor variant)	Leber congenital amaurosis 2	GPathogenic
Select item 623371	NM_000329.3(RPE65):c.1451-2A>C	RPE65	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 2	GLikely pathogenic
Select item 1131379	NM_000329.3(RPE65):c.1451-6A>T	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 1623685	NM_000329.3(RPE65):c.1451-7T>C	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 1594314	NM_000329.3(RPE65):c.1451-9G>C	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 98847	NM_000329.3(RPE65):c.1451-22C>T	RPE65	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1236661	NM_000329.3(RPE65):c.1450+104C>T	RPE65	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2953140	NM_000329.3(RPE65):c.1450+20T>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2079548	NM_000329.3(RPE65):c.1450+20T>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2939683	NM_000329.3(RPE65):c.1450+19G>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign

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