C0730290[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39614	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1 (C948Y +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +7 more	GPathogenic
Select item 2364	NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	CERKL (R257* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa +8 more	GPathogenic/Likely pathogenic
Select item 523393	NM_201548.5(CERKL):c.481+2T>G	CERKL	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 26 +4 more	GPathogenic/Likely pathogenic
Select item 194793	NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	CDHR1 (I841fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 9181	NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)	RGR (S66R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 9355	NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	GUCY2D (R838C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +4 more	GPathogenic/Likely pathogenic
Select item 428573	NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)	CFAP410 (R73P +1 more)	Single nucleotide variant (missense variant)	CFAP410-related disorder +4 more	GPathogenic/Likely pathogenic

ClinVar