"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99007	NM_000330.4(RS1):c.626G>A (p.Arg209His)	CDKL5, RS1 (R209H)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 99006	NM_000330.4(RS1):c.625C>T (p.Arg209Cys)	CDKL5, RS1 (R209C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 9895	NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	CDKL5, RS1 (P203L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 98960	NM_000330.4(RS1):c.422G>A (p.Arg141His)	CDKL5, RS1 (R141H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 98957	NM_000330.4(RS1):c.419G>A (p.Gly140Glu)	CDKL5, RS1 (G140E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 98956	NM_000330.4(RS1):c.418G>A (p.Gly140Arg)	CDKL5, RS1 (G140R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1275772	NM_000330.4(RS1):c.372_373insTAGCCAGTGG (p.Ile125Ter)	CDKL5, RS1 (I125*)	Insertion (nonsense +1 more)	not provided	GPathogenic
Select item 1343823	NM_000330.4(RS1):c.327-6C>A	CDKL5, RS1	Single nucleotide variant (intron variant)	Juvenile retinoschisis	GUncertain significance
Select item 98923	NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)	CDKL5, RS1 (Y89C)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GPathogenic/Likely pathogenic
Select item 9890	NM_000330.4(RS1):c.221G>T (p.Gly74Val)	CDKL5, RS1 (G74V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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