"Ambry Genetics"[submitter] AND "CDKL1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2279326	NM_004196.7(CDKL1):c.563T>C (p.Ile188Thr)	CDKL1 (I188T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408942	NM_004196.7(CDKL1):c.538G>A (p.Gly180Ser)	CDKL1 (G180S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508730	NM_004196.7(CDKL1):c.404C>T (p.Thr135Met)	CDKL1 (T135M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218594	NM_004196.7(CDKL1):c.307G>A (p.Val103Met)	CDKL1 (V103M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411973	NM_004196.7(CDKL1):c.301C>T (p.His101Tyr)	CDKL1 (H101Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377342	NM_004196.7(CDKL1):c.220C>T (p.Arg74Trp)	CDKL1 (R74W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495796	NM_004196.7(CDKL1):c.218A>T (p.Lys73Ile)	CDKL1 (K73I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598738	NM_004196.7(CDKL1):c.179A>T (p.His60Leu)	CDKL1 (H11L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410929	NM_004196.7(CDKL1):c.157C>G (p.Arg53Gly)	CDKL1 (R54G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245491	NM_004196.7(CDKL1):c.26A>C (p.Lys9Thr)	CDKL1 (K10T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance