"Institute of Medical Molecular Genetics, University of Zurich"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99000	NM_000330.4(RS1):c.598C>T (p.Arg200Cys)	CDKL5, RS1 (R200C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 98986	NM_000330.4(RS1):c.544C>T (p.Arg182Cys)	CDKL5, RS1 (R182C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 9887	NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	CDKL5, RS1 (R102W)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 98915	NM_000330.4(RS1):c.209G>A (p.Gly70Asp)	CDKL5, RS1 (G70D)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1048173	NM_000330.4(RS1):c.150G>A (p.Trp50Ter)	RS1 (W50*)	Single nucleotide variant (nonsense)	Juvenile retinoschisis	GLikely pathogenic
Select item 1048161	NM_000330.4(RS1):c.53-713_78+266del	RS1	Deletion (splice acceptor variant +1 more)	Juvenile retinoschisis	GLikely pathogenic

ClinVar