"Dept Of Ophthalmology, Nagoya University"[submitter] AND "CYGB"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143095	NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)	CYGB, PRCD (M1T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 987020	NM_001077620.3(PRCD):c.52C>T (p.Arg18Ter)	CYGB, PRCD (R18*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 37041	NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)	CYGB, PRCD (R22*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1343514	NM_001077620.3(PRCD):c.74+1G>A	CYGB, PRCD	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1127459	NM_001077620.3(PRCD):c.123G>A (p.Ala41=)	PRCD, CYGB	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +1 more	GLikely benign

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