"Counsyl"[submitter] AND "RPE65"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 467825	NM_000329.3(RPE65):c.1302G>A (p.Ala434=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98837	NM_000329.3(RPE65):c.1302G>C (p.Ala434=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +3 more	GBenign/Likely benign
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 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 556178	NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)	RPE65 (L328F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GConflicting classifications of pathogenicity
Select item 98903	NM_000329.3(RPE65):c.978G>T (p.Val326=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign 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 556104	NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	RPE65 (F252S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 98885	NM_000329.3(RPE65):c.644-42del	RPE65	Deletion (intron variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 98886	NM_000329.3(RPE65):c.644-43del	RPE65	Deletion (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 13119	NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)	RPE65 (A132T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
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 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 98871	NM_000329.3(RPE65):c.48T>C (p.Phe16=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database