C3714753[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98996	NM_000330.4(RS1):c.589C>T (p.Arg197Cys)	CDKL5, RS1 (R197C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1687609	NM_000330.4(RS1):c.531T>G (p.Tyr177Ter)	CDKL5, RS1 (Y177*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687470	NM_000330.4(RS1):c.488G>A (p.Trp163Ter)	CDKL5, RS1 (W163*)	Single nucleotide variant (nonsense +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1705523	NM_000330.4(RS1):c.455del (p.Ser152fs)	CDKL5, RS1 (S152fs)	Deletion (frameshift variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1687404	NM_000330.4(RS1):c.327-14_410del	CDKL5, RS1	Deletion (intron variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 68072	NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	CDKL5, RS1 (Q117*)	Single nucleotide variant (nonsense +1 more)	Juvenile retinoschisis	GPathogenic
Select item 9896	NM_000330.4(RS1):c.305G>A (p.Arg102Gln)	CDKL5, RS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 1705489	NM_000330.4(RS1):c.184+1G>A	RS1	Single nucleotide variant (splice donor variant)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 1687568	NM_000330.4(RS1):c.131dup (p.Gly45fs)	RS1 (G45fs)	Duplication (frameshift variant)	Juvenile retinoschisis	GLikely pathogenic
Select item 1705356	NM_000330.4(RS1):c.101dup (p.Tyr34Ter)	RS1 (Y34*)	Duplication (nonsense)	Juvenile retinoschisis	GLikely pathogenic