Related gene-specific medical variations for Gene (Select 53632) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3052939	NM_017431.4(PRKAG3):c.1453G>A (p.Asp485Asn)	LOC126806514, PRKAG3 (D485N)	Single nucleotide variant (missense variant)	PRKAG3-related disorder	GBenign
Select item 3041896	NM_017431.4(PRKAG3):c.1445C>T (p.Ala482Val)	LOC126806514, PRKAG3 (A482V)	Single nucleotide variant (missense variant)	PRKAG3-related disorder	GBenign
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 2405139	NM_017431.4(PRKAG3):c.1432G>A (p.Val478Met)	LOC126806514, PRKAG3 (V478M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar