"Ambry Genetics"[submitter] AND "PRKAB2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2222646	NM_005399.5(PRKAB2):c.782A>G (p.Lys261Arg)	PRKAB2 (K261R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554622	NM_005399.5(PRKAB2):c.590G>A (p.Arg197Gln)	LOC126805853, PRKAB2 (R197Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546837	NM_005399.5(PRKAB2):c.541C>G (p.Leu181Val)	LOC126805853, PRKAB2 (L181V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611647	NM_005399.5(PRKAB2):c.533G>T (p.Cys178Phe)	PRKAB2 (C178F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315177	NM_005399.5(PRKAB2):c.500A>G (p.Lys167Arg)	PRKAB2 (K167R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310992	NM_005399.5(PRKAB2):c.293A>G (p.Asn98Ser)	PRKAB2 (N98S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401264	NM_005399.5(PRKAB2):c.83C>G (p.Ala28Gly)	PRKAB2 (A28G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606447	NM_005399.5(PRKAB2):c.82G>T (p.Ala28Ser)	PRKAB2 (A28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance