"Ambry Genetics"[submitter] AND "PRKAG3"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405139	NM_017431.4(PRKAG3):c.1432G>A (p.Val478Met)	LOC126806514, PRKAG3 (V478M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516947	NM_017431.4(PRKAG3):c.1426G>C (p.Ala476Pro)	LOC126806514, PRKAG3 (A476P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218728	NM_017431.4(PRKAG3):c.1414G>A (p.Asp472Asn)	LOC126806514, PRKAG3 (D472N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218727	NM_017431.4(PRKAG3):c.1387C>T (p.His463Tyr)	LOC126806514, PRKAG3 (H463Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218726	NM_017431.4(PRKAG3):c.1373T>C (p.Val458Ala)	LOC126806514, PRKAG3 (V458A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218725	NM_017431.4(PRKAG3):c.1345C>T (p.Arg449Trp)	PRKAG3 (R449W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218724	NM_017431.4(PRKAG3):c.1333G>A (p.Asp445Asn)	PRKAG3 (D445N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309953	NM_017431.4(PRKAG3):c.1234C>T (p.His412Tyr)	PRKAG3 (H412Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328099	NM_017431.4(PRKAG3):c.1214C>T (p.Ala405Val)	PRKAG3 (A405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218723	NM_017431.4(PRKAG3):c.1192C>T (p.Arg398Cys)	PRKAG3 (R398C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294129	NM_017431.4(PRKAG3):c.1177G>A (p.Val393Met)	PRKAG3 (V393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526557	NM_017431.4(PRKAG3):c.1162G>A (p.Glu388Lys)	PRKAG3 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250418	NM_017431.4(PRKAG3):c.1126G>A (p.Val376Met)	PRKAG3 (V376M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462639	NM_017431.4(PRKAG3):c.1036C>T (p.Arg346Cys)	PRKAG3 (R346C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330598	NM_017431.4(PRKAG3):c.1024T>G (p.Ser342Ala)	PRKAG3 (S342A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596280	NM_017431.4(PRKAG3):c.977G>A (p.Arg326His)	PRKAG3 (R326H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309950	NM_017431.4(PRKAG3):c.976C>T (p.Arg326Cys)	PRKAG3 (R326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522101	NM_017431.4(PRKAG3):c.938C>T (p.Pro313Leu)	PRKAG3 (P313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218739	NM_017431.4(PRKAG3):c.871G>T (p.Asp291Tyr)	PRKAG3 (D291Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309949	NM_017431.4(PRKAG3):c.836G>C (p.Gly279Ala)	PRKAG3 (G279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218738	NM_017431.4(PRKAG3):c.755G>A (p.Arg252His)	PRKAG3 (R252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286690	NM_017431.4(PRKAG3):c.720G>A (p.Met240Ile)	PRKAG3 (M240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390751	NM_017431.4(PRKAG3):c.667G>A (p.Gly223Ser)	PRKAG3 (G223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227101	NM_017431.4(PRKAG3):c.644C>T (p.Ala215Val)	PRKAG3 (A215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313466	NM_017431.4(PRKAG3):c.619G>T (p.Asp207Tyr)	PRKAG3 (D207Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218736	NM_017431.4(PRKAG3):c.602C>G (p.Ser201Cys)	PRKAG3 (S201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309952	NM_017431.4(PRKAG3):c.568G>A (p.Glu190Lys)	PRKAG3 (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380245	NM_017431.4(PRKAG3):c.566A>G (p.Gln189Arg)	PRKAG3 (Q189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218735	NM_017431.4(PRKAG3):c.529C>T (p.Arg177Trp)	PRKAG3 (R177W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218734	NM_017431.4(PRKAG3):c.509T>G (p.Leu170Arg)	PRKAG3 (L170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409686	NM_017431.4(PRKAG3):c.488C>T (p.Pro163Leu)	PRKAG3 (P163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218733	NM_017431.4(PRKAG3):c.465G>C (p.Glu155Asp)	PRKAG3 (E155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292568	NM_017431.4(PRKAG3):c.320T>A (p.Val107Glu)	PRKAG3 (V107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218730	NM_017431.4(PRKAG3):c.298G>C (p.Ala100Pro)	PRKAG3 (A100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204780	NM_017431.4(PRKAG3):c.278T>A (p.Phe93Tyr)	PRKAG3 (F93Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218729	NM_017431.4(PRKAG3):c.176G>A (p.Arg59Lys)	PRKAG3 (R59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412339	NM_017431.4(PRKAG3):c.149G>A (p.Arg50His)	PRKAG3 (R50H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325477	NM_017431.4(PRKAG3):c.148C>T (p.Arg50Cys)	PRKAG3 (R50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324274	NM_017431.4(PRKAG3):c.110G>C (p.Trp37Ser)	PRKAG3 (W37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309951	NM_017431.4(PRKAG3):c.78G>A (p.Met26Ile)	PRKAG3 (M26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367637	NM_017431.4(PRKAG3):c.32G>C (p.Arg11Thr)	PRKAG3 (R11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218731	NM_017431.4(PRKAG3):c.29G>A (p.Arg10His)	PRKAG3 (R10H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355784	NM_017431.4(PRKAG3):c.25C>A (p.Leu9Met)	PRKAG3 (L9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319778	NM_017431.4(PRKAG3):c.22G>A (p.Ala8Thr)	PRKAG3 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512631	NM_017431.4(PRKAG3):c.14T>A (p.Leu5Gln)	PRKAG3 (L5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284834	NM_017431.4(PRKAG3):c.10G>A (p.Gly4Arg)	PRKAG3 (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 46