"Myriad Genetics, Inc."[submitter] AND "RS1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9888	NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	CDKL5, RS1 (E72K)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1726095	NM_000330.4(RS1):c.60_64del (p.Leu20fs)	RS1 (L20fs)	Deletion (frameshift variant)	Juvenile retinoschisis	GLikely pathogenic