"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "CDKL5"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338985	NM_001323289.2(CDKL5):c.37T>A (p.Phe13Ile)	CDKL5 (F13I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 2585296	NM_001323289.2(CDKL5):c.103A>G (p.Thr35Ala)	CDKL5 (T35A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 2627427	NM_001323289.2(CDKL5):c.216T>G (p.Ile72Met)	CDKL5 (I72M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 1339216	NM_001323289.2(CDKL5):c.362A>G (p.Lys121Arg)	CDKL5 (K121R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 1878650	NM_001323289.2(CDKL5):c.407T>G (p.Ile136Arg)	CDKL5 (I136R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 2585484	NM_001323289.2(CDKL5):c.1467_1486del (p.His489fs)	CDKL5 (H489fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3235042	NM_001323289.2(CDKL5):c.1744del (p.Ser582fs)	CDKL5 (S582fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 11500	NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)	CDKL5 (Q834*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +2 more	GConflicting classifications of pathogenicity
Select item 156690	NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)	CDKL5 (P852L)	Single nucleotide variant (missense variant)	CDKL5 disorder	GBenign FDA Recognized database