"Inherited Eye Disorders lab, UCL Institute of Ophthalmology"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701091	NM_013242.3(CFAP20):c.457A>G (p.Arg153Gly)	CFAP20 (R153G)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1701089	NM_013242.3(CFAP20):c.397del (p.Gln133fs)	CFAP20 (Q133fs)	Deletion (frameshift variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1334470	NM_013242.3(CFAP20):c.337C>T (p.Arg113Trp)	CFAP20 (R113W)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GUncertain significance
Select item 1701087	NM_013242.3(CFAP20):c.305G>A (p.Arg102His)	CFAP20 (R102H)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1701088	NM_013242.3(CFAP20):c.257A>G (p.Tyr86Cys)	CFAP20 (Y86C)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy	GLikely pathogenic
Select item 1701090	NM_013242.3(CFAP20):c.164+1G>A	CFAP20	Single nucleotide variant (splice donor variant)	Rod-cone dystrophy	GLikely pathogenic

ClinVar