392[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1182244	NM_001626.6(AKT2):c.*266T>C	AKT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224269	NM_001626.6(AKT2):c.*58C>A	AKT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1338691	NM_001626.6(AKT2):c.*9C>T	AKT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 3356940	NM_001626.6(AKT2):c.*4G>C	AKT2	Single nucleotide variant (3 prime UTR variant)	AKT2-related disorder	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 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 707136	NM_001626.6(AKT2):c.1367-7C>T	AKT2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 3038462	NM_001626.6(AKT2):c.1367-9C>T	AKT2	Single nucleotide variant (intron variant)	AKT2-related disorder	GLikely benign
Select item 3067186	NM_001626.6(AKT2):c.1366+106A>G	AKT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598854	NM_001626.6(AKT2):c.1366+20G>A	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GBenign/Likely 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 853867	NM_001626.6(AKT2):c.1363C>T (p.Arg455Cys)	AKT2 (R412C +2 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GUncertain significance
Select item 737535	NM_001626.6(AKT2):c.1332C>T (p.Thr444=)	AKT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2953395	NM_001626.6(AKT2):c.1311G>A (p.Arg437=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +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 2683499	NM_001626.6(AKT2):c.1292C>T (p.Thr431Met)	AKT2 (T369M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017881	NM_001626.6(AKT2):c.1286A>G (p.Gln429Arg)	AKT2 (Q367R +2 more)	Single nucleotide variant (missense variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GUncertain significance
Select item 3054552	NM_001626.6(AKT2):c.1281A>G (p.Lys427=)	AKT2	Single nucleotide variant (synonymous variant)	AKT2-related disorder	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 1642103	NM_001626.6(AKT2):c.1264-4G>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
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 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 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 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 1634246	NM_001626.6(AKT2):c.1176-12G>A	AKT2	Single nucleotide variant (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)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GBenign
Select item 1297922	NM_001626.6(AKT2):c.1175+103G>A	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1401918	NM_001626.6(AKT2):c.1115C>T (p.Thr372Met)	AKT2 (T329M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 376038	NM_001626.6(AKT2):c.1112G>A (p.Arg371His)	AKT2 (R371H +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
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
Select item 466265	NM_001626.6(AKT2):c.1110G>T (p.Pro370=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GBenign/Likely benign
Select item 2043577	NM_001626.6(AKT2):c.1090A>G (p.Met364Val)	AKT2 (M302V +2 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)	Type 2 diabetes mellitus +1 more	GUncertain significance
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 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 1809721	NM_001626.6(AKT2):c.1052A>G (p.Tyr351Cys)	AKT2 (Y289C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 792339	NM_001626.6(AKT2):c.1042C>T (p.Leu348=)	AKT2	Single nucleotide variant (synonymous variant)	not provided	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 2056979	NM_001626.6(AKT2):c.1039C>T (p.Arg347Cys)	AKT2 (R285C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 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 2937939	NM_001626.6(AKT2):c.990C>T (p.Ala330=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 1686438	NM_001626.6(AKT2):c.984C>G (p.Gly328=)	AKT2	Single nucleotide variant (synonymous variant)	not specified	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 931619	NM_001626.6(AKT2):c.961-13C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1238745	NM_001626.6(AKT2):c.960+59A>G	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1505492	NM_001626.6(AKT2):c.960+3G>T	AKT2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 434115	NM_001626.6(AKT2):c.960+3G>A	AKT2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 128342	NM_001626.6(AKT2):c.960G>A (p.Glu320=)	AKT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 434116	NM_001626.6(AKT2):c.945G>A (p.Glu315=)	AKT2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376039	NM_001626.6(AKT2):c.904A>G (p.Ser302Gly)	AKT2 (S302G +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of the large intestine	GLikely pathogenic
Select item 128341	NM_001626.6(AKT2):c.861C>A (p.Gly287=)	AKT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1620986	NM_001626.6(AKT2):c.832-7C>T	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 1258469	NM_001626.6(AKT2):c.832-28A>G	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274087	NM_001626.6(AKT2):c.831+182A>G	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1553482	NM_001626.6(AKT2):c.831+18C>T	AKT2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1124363	NM_001626.6(AKT2):c.831+10A>G	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 2438958	NM_001626.6(AKT2):c.831+4A>G	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 2926089	NM_001626.6(AKT2):c.822C>G (p.Arg274=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 1548180	NM_001626.6(AKT2):c.822C>T (p.Arg274=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 13982	NM_001626.6(AKT2):c.821G>A (p.Arg274His)	AKT2 (R274H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2924223	NM_001626.6(AKT2):c.792G>A (p.Glu264=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
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 1337466	NM_001626.6(AKT2):c.744A>G (p.Thr248=)	AKT2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 715159	NM_001626.6(AKT2):c.711G>C (p.Leu237=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +2 more	GLikely benign
Select item 2045863	NM_001626.6(AKT2):c.709-3C>T	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GUncertain significance
Select item 1969010	NM_001626.6(AKT2):c.709-3C>G	AKT2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
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 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 2923403	NM_001626.6(AKT2):c.709-14C>T	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GBenign
Select item 1274384	NM_001626.6(AKT2):c.709-164dup	AKT2	Duplication (intron variant)	not provided	GBenign
Select item 1277458	NM_001626.6(AKT2):c.708+264G>A	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233959	NM_001626.6(AKT2):c.708+115A>G	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2931125	NM_001626.6(AKT2):c.708+8G>A	AKT2	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 1336566	NM_001626.6(AKT2):c.708+7C>T	AKT2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 772158	NM_001626.6(AKT2):c.699C>T (p.Asn233=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 707555	NM_001626.6(AKT2):c.666C>T (p.His222=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GBenign
Select item 730785	NM_001626.6(AKT2):c.657C>T (p.Phe219=)	AKT2	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 2949360	NM_001626.6(AKT2):c.597C>T (p.Thr199=)	AKT2	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GLikely benign
Select item 2946586	NM_001626.6(AKT2):c.582C>T (p.Val194=)	AKT2	Single nucleotide variant (synonymous variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +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)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GUncertain significance
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 2045195	NM_001626.6(AKT2):c.574-15G>A	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 2939093	NM_001626.6(AKT2):c.574-16C>T	AKT2	Single nucleotide variant (intron variant)	Hypoinsulinemic hypoglycemia and body hemihypertrophy +1 more	GLikely benign
Select item 1265284	NM_001626.6(AKT2):c.573+312C>T	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271302	NM_001626.6(AKT2):c.573+128A>C	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279707	NM_001626.6(AKT2):c.573+25G>C	AKT2	Single nucleotide variant (intron variant)	not provided	GBenign

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