"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438234	Single allele	CERKL, ITGA4 +13 more	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 438053	NM_201548.5(CERKL):c.1269-3C>G	CERKL	Single nucleotide variant (intron variant)	Retinal dystrophy	GLikely pathogenic
Select item 438052	NM_201548.5(CERKL):c.1073+3_1073+6del	CERKL	Microsatellite (splice donor variant)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic
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 438055	NM_201548.5(CERKL):c.613+4_613+5del	CERKL	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438054	NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)	CERKL (R106S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 26 +2 more	GPathogenic/Likely pathogenic

ClinVar