"Mendelics"[submitter] AND "RS1"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98981	NM_000330.4(RS1):c.522+5G>A	CDKL5, RS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 210646	NM_000330.4(RS1):c.185-3176C>T	CDKL5, RS1 (V966I)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GBenign FDA Recognized database
Select item 143812	NM_000330.4(RS1):c.185-3188G>A	CDKL5, RS1 (R970*)	Single nucleotide variant (nonsense +1 more)	CDKL5 disorder	GBenign FDA Recognized database
Select item 930627	NM_000330.4(RS1):c.185-3221G>A	CDKL5, RS1 (R981*)	Single nucleotide variant (nonsense +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database

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