"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRKAG2"[g - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45706	NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 533888	NM_016203.4(PRKAG2):c.1678+10T>C	PRKAG2	Single nucleotide variant (intron variant)	PRKAG2-related disorder +1 more	GLikely benign
Select item 45702	NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 45696	NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)	PRKAG2 (H440Y +4 more)	Single nucleotide variant (missense variant)	PRKAG2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1955770	NM_016203.4(PRKAG2):c.1305C>T (p.Asn435=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart +1 more	GLikely benign
Select item 3053775	NM_016203.4(PRKAG2):c.1233+7A>T	PRKAG2	Single nucleotide variant (intron variant)	PRKAG2-related disorder	GLikely benign
Select item 6849	NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)	PRKAG2 (T400N +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 45686	NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)	PRKAG2	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 260694	NM_016203.4(PRKAG2):c.1052-42C>T	PRKAG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260693	NM_016203.4(PRKAG2):c.1051+36C>T	PRKAG2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 918384	NM_016203.4(PRKAG2):c.1006-9dup	PRKAG2	Duplication (intron variant)	Cardiomyopathy +2 more	GBenign/Likely benign
Select item 260698	NM_016203.4(PRKAG2):c.945A>G (p.Val315=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45738	NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)	PRKAG2	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 260697	NM_016203.4(PRKAG2):c.864+35_864+36insA	PRKAG2	Insertion (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 260696	NM_016203.4(PRKAG2):c.864+32G>T	PRKAG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 378428	NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 2579034	NM_016203.4(PRKAG2):c.714G>A (p.Ala238=)	LOC129999660, PRKAG2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 45726	NM_016203.4(PRKAG2):c.594G>A (p.Pro198=)	PRKAG2	Single nucleotide variant (synonymous variant)	PRKAG2-related disorder +5 more	GBenign/Likely benign
Select item 3033862	NM_016203.4(PRKAG2):c.466+45241A>C	PRKAG2 (H28P +1 more)	Single nucleotide variant (missense variant +2 more)	PRKAG2-related disorder	GLikely benign
Select item 2628985	NM_016203.4(PRKAG2):c.466+45217C>T	PRKAG2 (T20M)	Single nucleotide variant (missense variant +2 more)	PRKAG2-related disorder	GUncertain significance
Select item 3045796	NM_016203.4(PRKAG2):c.466+45150C>T	PRKAG2	Single nucleotide variant (5 prime UTR variant +1 more)	PRKAG2-related disorder	GBenign
Select item 2628380	NM_016203.4(PRKAG2):c.466+1G>C	PRKAG2 (S112T)	Single nucleotide variant (missense variant +2 more)	Lethal congenital glycogen storage disease of heart +1 more	GUncertain significance
Select item 3039430	NM_016203.4(PRKAG2):c.430C>T (p.Pro144Ser)	PRKAG2 (P100S +1 more)	Single nucleotide variant (missense variant +1 more)	PRKAG2-related disorder	GUncertain significance
Select item 378426	NM_016203.4(PRKAG2):c.393C>T (p.Ser131=)	PRKAG2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 45713	NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)	PRKAG2	Single nucleotide variant (synonymous variant)	PRKAG2-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 178108	NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)	PRKAG2 (R84W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 45709	NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart +7 more	GBenign
Select item 45704	NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)	PRKAG2 (G56R +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 958655	NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)	PRKAG2 (G50R +1 more)	Single nucleotide variant (missense variant)	PRKAG2-related disorder +3 more	GUncertain significance
Select item 696154	NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GLikely benign
Select item 3054902	NM_016203.4(PRKAG2):c.115-5C>T	PRKAG2	Single nucleotide variant (intron variant)	PRKAG2-related disorder	GLikely benign
Select item 260695	NM_016203.4(PRKAG2):c.114+43C>T	PRKAG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 45689	NM_016203.4(PRKAG2):c.114+12C>T	PRKAG2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 6 +4 more	GBenign
Select item 45727	NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)	PRKAG2 (S20I)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 260692	NM_016203.4(PRKAG2):c.-26C>T	PRKAG2	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign
Select item 3029989	NM_016203.3(PRKAG2):c.-514G>T	PRKAG2, PRKAG2-AS1	Single nucleotide variant (non-coding transcript variant)	PRKAG2-related disorder	GLikely benign

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Items: 36