C3151086[trait identifier] AND "Ocular Genomics Institute, Massachuset - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 750796	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	RPE65 (D477G)	Single nucleotide variant (missense variant)	RPE65-Related Disorders +5 more	GPathogenic/Likely pathogenic
Select item 98845	NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	RPE65 (E462*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic/Likely pathogenic
Select item 1065765	NM_000329.3(RPE65):c.1348C>G (p.Leu450Val)	RPE65 (L450V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20	GUncertain significance
Select item 1065750	NM_000329.3(RPE65):c.1282G>T (p.Gly428Trp)	RPE65 (G428W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20	GUncertain significance
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
Select item 1065718	NM_000329.3(RPE65):c.350C>T (p.Ser117Phe)	RPE65 (S117F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20	GUncertain significance
Select item 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +6 more	GPathogenic
Select item 98898	NM_000329.3(RPE65):c.89dup (p.Thr31fs)	RPE65 (T31fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic 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 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