"PreventionGenetics, part of Exact Sciences"[submitter] AND "RPE65"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 966079	NM_000329.3(RPE65):c.1449T>C (p.Asp483=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 98841	NM_000329.3(RPE65):c.1338+20A>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 87 with choroidal involvement +3 more	GBenign
Select item 712719	NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)	RPE65 (T385M)	Single nucleotide variant (missense variant)	RPE65-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 875116	NM_000329.3(RPE65):c.1129-5C>T	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GUncertain significance 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 198416	NM_000329.3(RPE65):c.675C>G (p.Ile225Met)	RPE65 (I225M)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 255839	NM_000329.3(RPE65):c.644-33C>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 87 with choroidal involvement +4 more	GBenign
Select item 255838	NM_000329.3(RPE65):c.643+22C>T	RPE65	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 789504	NM_000329.3(RPE65):c.295G>A (p.Val99Ile)	RPE65 (V99I)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 1135727	NM_000329.3(RPE65):c.165G>A (p.Glu55=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +2 more	GLikely benign
Select item 98840	NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	RPE65 (R44Q)	Single nucleotide variant (missense variant)	RPE65-related disorder +2 more	GPathogenic