C1833236[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222771	NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)	PRKAG2 (I492N +4 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 45697	NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)	PRKAG2 (D464N +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +8 more	GUncertain significance
Select item 222770	NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly)	PRKAG2 (A437G +4 more)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 626749	NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)	PRKAG2 (S333A +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 6846	NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)	PRKAG2 (R302Q +4 more)	Single nucleotide variant (missense variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +8 more	GPathogenic
Select item 45717	NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)	PRKAG2 (T142I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +7 more	GConflicting classifications of pathogenicity

ClinVar