ClinVar for PubMed (Select 30268864) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921932	NM_000329.3(RPE65):c.725+1G>T	RPE65	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2202770	NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)	RPE65 (G104S +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 2202769	NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)	RPE65 (G104D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2151878	NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)	RPE65 (E21*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 1986858	NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)	RPE65 (Y395H +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 1521093	NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)	RPE65 (N135K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 1465598	NM_000329.3(RPE65):c.1444G>T (p.Asp482Tyr)	RPE65 (D482Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 1457633	NM_000329.3(RPE65):c.725+2T>A	RPE65	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 1455641	NM_000329.3(RPE65):c.725+2T>C	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 1453840	NM_000329.3(RPE65):c.725+1G>A	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1067769	NM_000329.3(RPE65):c.3G>A (p.Met1Ile)	RPE65 (M1I)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 870344	NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)	RPE65 (V443A)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 850287	NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)	RPE65 (D482G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GConflicting classifications of pathogenicity
Select item 636202	NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)	RPE65 (D110G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GLikely pathogenic
Select item 437985	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	RPE65 (P25L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +4 more	GPathogenic/Likely pathogenic
Select item 98900	NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	RPE65 (Y318N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 98872	NM_000329.3(RPE65):c.495+1dup	RPE65 (V166fs)	Duplication (frameshift 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 98863	NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	RPE65 (E102*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98861	NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	RPE65 (M1T)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 20 +1 more	GPathogenic/Likely pathogenic
Select item 98857	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	RPE65 (R91Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98854	NM_000329.3(RPE65):c.235T>C (p.Tyr79His)	RPE65 (Y79H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GLikely pathogenic
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 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 29873	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	RPE65 (Y431C)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 13114	NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	RPE65 (R234*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database

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Items: 26