"Faculty of Health Sciences, Beirut Arab University"[submitter] AND "R - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190982	NM_000329.3(RPE65):c.1366del (p.Glu456fs)	RPE65 (E456fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 978979	NM_000329.3(RPE65):c.1129-2A>G	RPE65	Single nucleotide variant (splice acceptor variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 973960	NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)	RPE65 (W331*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 98875	NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	RPE65 (H182Y)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 978981	NM_000329.3(RPE65):c.515T>A (p.Val172Asp)	RPE65 (V172D)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 978980	NM_000329.3(RPE65):c.310G>C (p.Gly104Arg)	RPE65 (G104R)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98840	NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	RPE65 (R44Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GPathogenic
Select item 979019	NM_000329.2:c.(?_-1)_(1128+1_1129-1)del	RPE65	Deletion	Autosomal recessive retinitis pigmentosa	GPathogenic