C3714753[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371642	NM_000330.4(RS1):c.673T>C (p.Ter225Arg)	CDKL5, RS1	Single nucleotide variant (stop lost +1 more)	Juvenile retinoschisis	GLikely pathogenic
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 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 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
Select item 98990	NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	CDKL5, RS1 (P192S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 98979	NM_000330.4(RS1):c.522+1G>A	CDKL5, RS1	Single nucleotide variant (intron variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 370754	NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)	CDKL5, RS1 (Y166*)	Single nucleotide variant (nonsense +1 more)	Juvenile retinoschisis +1 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)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 9896	NM_000330.4(RS1):c.305G>A (p.Arg102Gln)	CDKL5, RS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GPathogenic
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 372496	NM_000330.4(RS1):c.208G>A (p.Gly70Ser)	CDKL5, RS1 (G70S)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +3 more	GPathogenic