C0730290[trait identifier] AND "Sharon lab, Hadassah-Hebrew University - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2364	NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	CERKL (R257* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 13183	NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	PRPH2 (R142W)	Single nucleotide variant (missense variant)	PRPH2-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 812373	NM_006204.4(PDE6C):c.490T>C (p.Phe164Leu)	PDE6C (F164L)	Single nucleotide variant (missense variant)	Cone dystrophy	GLikely pathogenic
Select item 9355	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	GUCY2D (R838C)	Single nucleotide variant (missense variant)	Choroidal dystrophy, central areolar, 1 +4 more	GPathogenic/Likely pathogenic
Select item 9357	NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	GUCY2D (R838H)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 9910	NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)	RPGR (E1033fs)	Deletion (frameshift variant +1 more)	RPGR-related disorder +5 more	GPathogenic

ClinVar