"Ambry Genetics"[submitter] AND "AKT2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522034	NM_001626.6(AKT2):c.1246G>A (p.Asp416Asn)	AKT2 (D416N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395019	NM_001626.6(AKT2):c.1186G>C (p.Gly396Arg)	AKT2 (G353R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215633	NM_001626.6(AKT2):c.1117C>G (p.Leu373Val)	AKT2 (L373V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1505492	NM_001626.6(AKT2):c.960+3G>T	AKT2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1052045	NM_001626.6(AKT2):c.623G>A (p.Arg208Lys)	AKT2 (R146K +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 2549924	NM_001626.6(AKT2):c.575A>G (p.Asp192Gly)	AKT2 (D130G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365243	NM_001626.6(AKT2):c.508C>T (p.Arg170Trp)	AKT2 (R170W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218918	NM_001626.6(AKT2):c.401A>C (p.Glu134Ala)	AKT2 (E134A +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 969146	NM_001626.6(AKT2):c.347G>C (p.Gly116Ala)	AKT2 (G54A +1 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GConflicting classifications of pathogenicity
Select item 2472609	NM_001626.6(AKT2):c.202C>A (p.Pro68Thr)	AKT2 (P6T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance