ClinVar for MedGen (Select 1684667) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709391	NM_000329.3(RPE65):c.86A>G (p.His29Arg)	RPE65 (H29R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 87 with choroidal involvement +2 more	GUncertain significance
Select item 1117737	NM_000329.3(RPE65):c.1450+13A>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +2 more	GLikely benign
Select item 973965	NM_000329.3(RPE65):c.440_441del (p.Thr147fs)	RPE65 (T147fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 2 +2 more	GPathogenic
Select item 973955	NM_000329.3(RPE65):c.246-11A>G	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 875220	NM_000329.3(RPE65):c.253C>T (p.Arg85Cys)	RPE65 (R85C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +3 more	GUncertain significance
Select item 874234	NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)	RPE65 (N301S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
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 750796	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	RPE65 (D477G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +5 more	GPathogenic/Likely pathogenic
Select item 437985	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	RPE65 (P25L)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 298025	NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)	RPE65 (G75E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +4 more	GUncertain significance
Select item 298022	NM_000329.3(RPE65):c.845A>G (p.Asn282Ser)	RPE65 (N282S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 255839	NM_000329.3(RPE65):c.644-33C>G	RPE65	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255838	NM_000329.3(RPE65):c.643+22C>T	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +3 more	GBenign
Select item 98899	NM_000329.3(RPE65):c.95-2A>T	RPE65	Single nucleotide variant (splice acceptor variant +1 more)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98866	NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	RPE65 (R124*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98841	NM_000329.3(RPE65):c.1338+20A>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 87 with choroidal involvement +4 more	GBenign
Select item 98836	NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)	RPE65 (A434V)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98830	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	RPE65 (G40S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98828	NM_000329.3(RPE65):c.1155G>A (p.Thr385=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98820	NM_000329.3(RPE65):c.1056G>A (p.Glu352=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 92859	NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)	RPE65 (K294T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 29872	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	RPE65 (K303*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13118	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	RPE65 (L341S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database

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Items: 24