C1842127[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	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)	Retinitis pigmentosa +8 more	GPathogenic/Likely pathogenic
Select item 523394	NM_201548.5(CERKL):c.677+3A>G	CERKL	Single nucleotide variant (intron variant)	Severe photosensitivity +3 more	GLikely 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

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