ClinVar for MedGen (Select 480014) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024161	NM_001626.6(AKT2):c.704G>T (p.Gly235Val)	AKT2 (G173V +1 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy	GUncertain significance
Select item 2953395	NM_001626.6(AKT2):c.1311G>A (p.Arg437=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2950331	NM_001626.6(AKT2):c.1366+19C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2949360	NM_001626.6(AKT2):c.597C>T (p.Thr199=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GLikely benign
Select item 2946586	NM_001626.6(AKT2):c.582C>T (p.Val194=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2944308	NM_001626.6(AKT2):c.380C>T (p.Pro127Leu)	AKT2 (P127L +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2942455	NM_001626.6(AKT2):c.327C>T (p.Ser109=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2940916	NM_001626.6(AKT2):c.1125C>T (p.Pro375=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2940438	NM_001626.6(AKT2):c.1264-4G>A	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2940072	NM_001626.6(AKT2):c.288-14G>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2939093	NM_001626.6(AKT2):c.574-16C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2938255	NM_001626.6(AKT2):c.46+20C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2937939	NM_001626.6(AKT2):c.990C>T (p.Ala330=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2935896	NM_001626.6(AKT2):c.527G>T (p.Arg176Leu)	AKT2 (R176L +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2934793	NM_001626.6(AKT2):c.640-20C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2931125	NM_001626.6(AKT2):c.708+8G>A	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GLikely benign
Select item 2926089	NM_001626.6(AKT2):c.822C>G (p.Arg274=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2925323	NM_001626.6(AKT2):c.283G>A (p.Glu95Lys)	AKT2 (E95K +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2924811	NM_001626.6(AKT2):c.387C>T (p.Asp129=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2924223	NM_001626.6(AKT2):c.792G>A (p.Glu264=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2924222	NM_001626.6(AKT2):c.576T>G (p.Asp192Glu)	AKT2 (D130E +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2923403	NM_001626.6(AKT2):c.709-14C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 2438958	NM_001626.6(AKT2):c.831+4A>G	AKT2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2419815	NM_001626.6(AKT2):c.709-11T>A	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2419701	NM_001626.6(AKT2):c.1040G>A (p.Arg347His)	AKT2 (R285H +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	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 2199461	NM_001626.6(AKT2):c.175+13A>G	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2156941	NM_001626.6(AKT2):c.430C>T (p.Arg144Trp)	AKT2 (R144W +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2148621	NM_001626.6(AKT2):c.961-2dup	AKT2	Duplication (splice acceptor variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2138224	NM_001626.6(AKT2):c.639+11C>G	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2126287	NM_001626.6(AKT2):c.1227C>T (p.Phe409=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2105046	NM_001626.6(AKT2):c.1032G>A (p.Met344Ile)	AKT2 (M344I +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2082993	NM_001626.6(AKT2):c.572A>G (p.Lys191Arg)	AKT2 (K129R +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2071417	NM_001626.6(AKT2):c.438A>G (p.Lys146=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2070537	NM_001626.6(AKT2):c.168C>T (p.Ser56=)	AKT2	Single nucleotide variant (5 prime UTR variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2065657	NM_001626.6(AKT2):c.641C>T (p.Ala214Val)	AKT2 (A214V +1 more)	Single nucleotide variant (missense variant)	AKT2-related disorder +2 more	GUncertain significance
Select item 2056979	NM_001626.6(AKT2):c.1039C>T (p.Arg347Cys)	AKT2 (R285C +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 2048339	NM_001626.6(AKT2):c.416C>T (p.Ala139Val)	AKT2 (A139V +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2045863	NM_001626.6(AKT2):c.709-3C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2045195	NM_001626.6(AKT2):c.574-15G>A	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2043577	NM_001626.6(AKT2):c.1090A>G (p.Met364Val)	AKT2 (M302V +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 2042525	NM_001626.6(AKT2):c.46+10C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1995684	NM_001626.6(AKT2):c.1068G>A (p.Glu356=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1969010	NM_001626.6(AKT2):c.709-3C>G	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GUncertain significance
Select item 1918495	NM_001626.6(AKT2):c.960+20G>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1673511	NM_001626.6(AKT2):c.288-17C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1669627	NM_001626.6(AKT2):c.288-18dup	AKT2	Duplication (intron variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 1664108	NM_001626.6(AKT2):c.288-6G>C	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1661480	NM_001626.6(AKT2):c.1176-10C>G	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1642103	NM_001626.6(AKT2):c.1264-4G>T	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 1638858	NM_001626.6(AKT2):c.708+9C>T	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 1634246	NM_001626.6(AKT2):c.1176-12G>A	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 1622390	NM_001626.6(AKT2):c.442-12T>C	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1620986	NM_001626.6(AKT2):c.832-7C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1606542	NM_001626.6(AKT2):c.708+19_708+20insGCGGCTGCCTTGGCT	AKT2	Insertion (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1603051	NM_001626.6(AKT2):c.1176-17C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 1600750	NM_001626.6(AKT2):c.442-20A>G	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 1598854	NM_001626.6(AKT2):c.1366+20G>A	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +2 more	GBenign/Likely benign
Select item 1595520	NM_001626.6(AKT2):c.126C>T (p.Pro42=)	AKT2	Single nucleotide variant (5 prime UTR variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1589642	NM_001626.6(AKT2):c.525C>T (p.Gly175=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1587233	NM_001626.6(AKT2):c.1413C>G (p.Pro471=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1553482	NM_001626.6(AKT2):c.831+18C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 1548180	NM_001626.6(AKT2):c.822C>T (p.Arg274=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1539726	NM_001626.6(AKT2):c.1296C>T (p.Ser432=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 1514945	NM_001626.6(AKT2):c.1036G>A (p.Gly346Ser)	AKT2 (G284S +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1513729	NM_001626.6(AKT2):c.268G>A (p.Val90Met)	AKT2 (V90M +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1512481	NM_001626.6(AKT2):c.169G>A (p.Val57Ile)	AKT2 (V57I)	Single nucleotide variant (5 prime UTR variant +1 more)	Type 2 diabetes mellitus +1 more	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 1504327	NM_001626.6(AKT2):c.395C>T (p.Thr132Met)	AKT2 (T70M +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1499105	NM_001626.6(AKT2):c.173C>T (p.Ala58Val)	AKT2 (A58V)	Single nucleotide variant (5 prime UTR variant +1 more)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1492076	NM_001626.6(AKT2):c.427G>A (p.Ala143Thr)	AKT2 (A143T +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1484414	NM_001626.6(AKT2):c.19A>G (p.Ile7Val)	AKT2 (I7V)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1482160	NM_001626.6(AKT2):c.526C>T (p.Arg176Cys)	AKT2 (R114C +1 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GUncertain significance
Select item 1449549	NM_001626.6(AKT2):c.1069C>T (p.Arg357Cys)	AKT2 (R357C +2 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GUncertain significance
Select item 1401918	NM_001626.6(AKT2):c.1115C>T (p.Thr372Met)	AKT2 (T329M +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 1357018	NM_001626.6(AKT2):c.337C>T (p.Arg113Trp)	AKT2 (R113W +1 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GUncertain significance
Select item 1156798	NM_001626.6(AKT2):c.39C>T (p.His13=)	AKT2	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1147178	NM_001626.6(AKT2):c.132C>T (p.Ala44=)	AKT2	Single nucleotide variant (5 prime UTR variant +1 more)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1124363	NM_001626.6(AKT2):c.831+10A>G	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1119261	NM_001626.6(AKT2):c.709-9C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1116467	NM_001626.6(AKT2):c.318C>T (p.Val106=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1078621	NM_001626.6(AKT2):c.1023C>T (p.Tyr341=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1060168	NM_001626.6(AKT2):c.282C>G (p.Asp94Glu)	AKT2 (D32E +1 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GUncertain significance
Select item 1055745	NM_001626.6(AKT2):c.1399C>T (p.Arg467Trp)	AKT2 (R405W +2 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GConflicting classifications of pathogenicity
Select item 1052045	NM_001626.6(AKT2):c.623G>A (p.Arg208Lys)	AKT2 (R146K +1 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GConflicting classifications of pathogenicity
Select item 1033436	NM_001626.6(AKT2):c.44G>A (p.Arg15His)	AKT2 (R15H)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1018900	NM_001626.6(AKT2):c.208C>G (p.Pro70Ala)	AKT2 (P70A +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1017881	NM_001626.6(AKT2):c.1286A>G (p.Gln429Arg)	AKT2 (Q367R +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 969146	NM_001626.6(AKT2):c.347G>C (p.Gly116Ala)	AKT2 (G54A +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 959923	NM_001626.6(AKT2):c.550C>T (p.Arg184Trp)	AKT2 (R184W +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 931619	NM_001626.6(AKT2):c.961-13C>T	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 853964	NM_001626.6(AKT2):c.136G>A (p.Asp46Asn)	AKT2 (D46N)	Single nucleotide variant (5 prime UTR variant +1 more)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 853867	NM_001626.6(AKT2):c.1363C>T (p.Arg455Cys)	AKT2 (R412C +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 838472	NM_001626.6(AKT2):c.757C>T (p.Arg253Trp)	AKT2 (R191W +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 797394	NM_001626.6(AKT2):c.399T>G (p.Thr133=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 783189	NM_001626.6(AKT2):c.212A>G (p.Asn71Ser)	AKT2 (N71S +1 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 779566	NM_001626.6(AKT2):c.1065C>T (p.His355=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 772158	NM_001626.6(AKT2):c.699C>T (p.Asn233=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GLikely benign
Select item 733770	NM_001626.6(AKT2):c.1110G>A (p.Pro370=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign

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