"SIB Swiss Institute of Bioinformatics"[submitter] AND "CDKL5"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99006	NM_000330.4(RS1):c.625C>T (p.Arg209Cys)	CDKL5, RS1 (R209C)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 98997	NM_000330.4(RS1):c.590G>A (p.Arg197His)	CDKL5, RS1 (R197H)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic