"Molecular Genetics Laboratory, Institute for Ophthalmic Research"[sub - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547067	NM_000330.4(RS1):c.366G>A (p.Trp122Ter)	CDKL5, RS1 (W122*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813235	NM_000330.4(RS1):c.199_206dup (p.Gly70fs)	CDKL5, RS1 (G70fs)	Duplication (frameshift variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic
Select item 98910	NM_000330.4(RS1):c.185-1G>C	CDKL5, RS1	Single nucleotide variant (intron variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic

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