"Ambry Genetics"[submitter] AND "CREB1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2464422	NM_004379.5(CREB1):c.22G>A (p.Glu8Lys)	CREB1 (E8K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375523	NM_004379.5(CREB1):c.67C>G (p.Gln23Glu)	CREB1 (Q23E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545123	NM_004379.5(CREB1):c.89A>G (p.Gln30Arg)	CREB1 (Q30R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550269	NM_004379.5(CREB1):c.137C>G (p.Ala46Gly)	CREB1 (A46G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382617	NM_004379.5(CREB1):c.442G>A (p.Ala148Thr)	CREB1 (A162T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248443	NM_004379.5(CREB1):c.448G>T (p.Ala150Ser)	CREB1 (A164S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316558	NM_004379.5(CREB1):c.527C>A (p.Ala176Glu)	CREB1 (A136E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271415	NM_004379.5(CREB1):c.781C>A (p.Pro261Thr)	CREB1 (P221T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance