"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166844	NM_201548.5(CERKL):c.1506C>T (p.Asp502=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 257149	NM_201548.5(CERKL):c.1133+13T>C	CERKL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 991255	NM_201548.5(CERKL):c.949C>T (p.Arg317Cys)	CERKL (R204C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 166846	NM_201548.5(CERKL):c.896-18T>A	CERKL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 257151	NM_201548.5(CERKL):c.895+3A>G	CERKL	Single nucleotide variant (intron variant)	Retinitis pigmentosa 26 +3 more	GBenign
Select item 166848	NM_201548.5(CERKL):c.239-12T>A	CERKL	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 166849	NM_201548.5(CERKL):c.156C>T (p.Phe52=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +4 more	GBenign

ClinVar