C1859844[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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Items: 16

	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 98835	NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	RPE65 (E417Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 660359	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	RPE65 (W402*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 866183	NM_000329.3(RPE65):c.1150G>T (p.Val384Phe)	RPE65 (V384F)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 596673	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	RPE65 (N356fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 865841	NM_000329.3(RPE65):c.1040G>A (p.Arg347His)	RPE65 (R347H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +2 more	GConflicting classifications of pathogenicity
Select item 98902	NM_000329.3(RPE65):c.962dup (p.Asn321fs)	RPE65 (N321fs)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 372493	NM_000329.3(RPE65):c.893del (p.Lys298fs)	RPE65 (K298fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 829832	NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)	RPE65 (I206T)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GLikely pathogenic
Select item 865946	NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)	RPE65 (T101I)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
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 467826	NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)	RPE65 (F72S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 98830	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	RPE65 (G40S)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic
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 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 98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Single nucleotide variant (intron variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database