C3151107[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 783414	NM_000283.4(PDE6B):c.101C>T (p.Ala34Val)	PDE6B (A34V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1358080	NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)	PDE6B (Q88*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness autosomal dominant 2 +2 more	GPathogenic
Select item 849373	NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)	PDE6B (R542W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 866296	NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)	PDE6B (Q652* +2 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 939288	NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr)	PDE6B (C717Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 167440	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Single nucleotide variant (splice donor variant)	Congenital stationary night blindness autosomal dominant 2 +5 more	GPathogenic
Select item 349393	NM_000283.4(PDE6B):c.2331C>T (p.Phe777=)	PDE6B	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 40 +3 more	GBenign/Likely benign

ClinVar