"RS1-related condition"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035108	NM_000330.4(RS1):c.*2G>T	CDKL5, RS1	Single nucleotide variant (3 prime UTR variant +1 more)	RS1-related condition	GLikely benign
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 791378	NM_000330.4(RS1):c.258G>A (p.Pro86=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	RS1-related condition +1 more	GBenign
Select item 285377	NM_000330.4(RS1):c.234G>A (p.Pro78=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	RS1-related condition +1 more	GConflicting classifications of pathogenicity
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
Select item 757382	NM_000330.4(RS1):c.7C>G (p.Arg3Gly)	RS1 (R3G)	Single nucleotide variant (missense variant)	RS1-related condition +1 more	GBenign
Select item 1153655	NM_000330.4(RS1):c.6A>T (p.Ser2=)	RS1	Single nucleotide variant (synonymous variant)	RS1-related condition +1 more	GLikely benign

ClinVar