PRKAG2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359320	NM_016203.4(PRKAG2):c.*1061G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 910745	NM_016203.4(PRKAG2):c.*1043G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359321	NM_016203.4(PRKAG2):c.*1041dup	PRKAG2	Duplication (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +2 more	GUncertain significance
Select item 359322	NM_016203.4(PRKAG2):c.*1040dup	PRKAG2	Duplication (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +3 more	GUncertain significance
Select item 359323	NM_016203.4(PRKAG2):c.*1040del	PRKAG2	Deletion (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +2 more	GUncertain significance
Select item 910746	NM_016203.4(PRKAG2):c.*1030T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359324	NM_016203.4(PRKAG2):c.*1029dup	PRKAG2	Duplication (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +3 more	GUncertain significance
Select item 359325	NM_016203.4(PRKAG2):c.1021_1022delinsGT	PRKAG2	Indel (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +2 more	GUncertain significance
Select item 910747	NM_016203.4(PRKAG2):c.*1021T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359326	NM_016203.4(PRKAG2):c.*1021del	PRKAG2	Deletion (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +2 more	GLikely benign
Select item 359327	NM_016203.4(PRKAG2):c.*1012T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359328	NM_016203.4(PRKAG2):c.*964G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 911968	NM_016203.4(PRKAG2):c.*953T>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359329	NM_016203.4(PRKAG2):c.*896del	PRKAG2	Deletion (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +3 more	GConflicting classifications of pathogenicity
Select item 359330	NM_016203.4(PRKAG2):c.*887G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359331	NM_016203.4(PRKAG2):c.*835T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 909038	NM_016203.4(PRKAG2):c.*771C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +1 more	GUncertain significance
Select item 359332	NM_016203.4(PRKAG2):c.*614A>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359333	NM_016203.4(PRKAG2):c.*612G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359334	NM_016203.4(PRKAG2):c.*572G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GLikely benign
Select item 359335	NM_016203.4(PRKAG2):c.*522G>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 909898	NM_016203.4(PRKAG2):c.*471T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359336	NM_016203.4(PRKAG2):c.*452C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 910801	NM_016203.4(PRKAG2):c.*450T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910802	NM_016203.4(PRKAG2):c.*419C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 910803	NM_016203.4(PRKAG2):c.*399G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 910804	NM_016203.4(PRKAG2):c.*398C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 359337	NM_016203.4(PRKAG2):c.*384C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 359338	NM_016203.4(PRKAG2):c.*365G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359339	NM_016203.4(PRKAG2):c.*350C>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +2 more	GUncertain significance
Select item 1256660	NM_016203.4(PRKAG2):c.*301A>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 912012	NM_016203.4(PRKAG2):c.*256T>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 more	GUncertain significance
Select item 909098	NM_016203.4(PRKAG2):c.*156A>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +1 more	GUncertain significance
Select item 359340	NM_016203.4(PRKAG2):c.*135T>C	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359341	NM_016203.4(PRKAG2):c.*127C>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359342	NM_016203.4(PRKAG2):c.*112A>G	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 909955	NM_016203.4(PRKAG2):c.*56G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 359343	NM_016203.4(PRKAG2):c.*55C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1249336	NM_016203.4(PRKAG2):c.*18G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 628851	NM_016203.4(PRKAG2):c.*6G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 924992	NM_016203.4(PRKAG2):c.*5C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GLikely benign
Select item 45684	NM_016203.4(PRKAG2):c.*3G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 177987	NM_016203.4(PRKAG2):c.*2C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1427273	NM_016203.4(PRKAG2):c.1708T>G (p.Ter570Gly)	PRKAG2	Single nucleotide variant (stop lost)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2850506	NM_016203.4(PRKAG2):c.1707G>A (p.Glu569=)	PRKAG2	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 923300	NM_016203.4(PRKAG2):c.1705dup (p.Glu569fs)	PRKAG2 (E444fs +4 more)	Duplication (frameshift variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 926498	NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)	PRKAG2 (E445Q +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 181482	NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys)	PRKAG2 (E569K +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2060756	NM_016203.4(PRKAG2):c.1704G>C (p.Thr568=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 45706	NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 181464	NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met)	PRKAG2 (T568M +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 2418141	NM_016203.4(PRKAG2):c.1698A>C (p.Thr566=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart +2 more	GLikely benign
Select item 373297	NM_016203.4(PRKAG2):c.1693G>C (p.Glu565Gln)	PRKAG2 (E565Q +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 2774159	NM_016203.4(PRKAG2):c.1689A>G (p.Gln563=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 919207	NM_016203.4(PRKAG2):c.1688A>G (p.Gln563Arg)	PRKAG2 (Q322R +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3226897	NM_016203.4(PRKAG2):c.1687C>G (p.Gln563Glu)	PRKAG2 (Q321E +13 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 45705	NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)	PRKAG2 (Q563* +4 more)	Single nucleotide variant (nonsense)	not specified +4 more	GUncertain significance
Select item 2774160	NM_016203.4(PRKAG2):c.1686A>G (p.Lys562=)	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 520490	NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)	PRKAG2 (A561P +4 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 518717	NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr)	PRKAG2 (A561T +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1024342	NM_016203.4(PRKAG2):c.1679-1G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant +1 more)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 389634	NM_016203.4(PRKAG2):c.1679-3C>T	PRKAG2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1531810	NM_016203.4(PRKAG2):c.1679-7C>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1645110	NM_016203.4(PRKAG2):c.1679-10C>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1914552	NM_016203.4(PRKAG2):c.1679-12A>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1172130	NM_016203.4(PRKAG2):c.1679-14C>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart +1 more	GLikely benign
Select item 1293557	NM_016203.4(PRKAG2):c.1679-15T>C	PRKAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517071	NM_016203.4(PRKAG2):c.1679-19A>T	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart +1 more	GBenign/Likely benign
Select item 508864	NM_016203.4(PRKAG2):c.1679-19A>G	PRKAG2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 675266	NM_016203.4(PRKAG2):c.1679-125C>T	PRKAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674415	NM_016203.4(PRKAG2):c.1679-246dup	PRKAG2	Duplication (intron variant)	not provided	GLikely benign
Select item 683629	NM_016203.4(PRKAG2):c.1679-258A>G	PRKAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206889	NM_016203.4(PRKAG2):c.1678+277A>C	PRKAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676090	NM_016203.4(PRKAG2):c.1678+121T>A	PRKAG2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1202267	NM_016203.4(PRKAG2):c.1678+86T>C	PRKAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717916	NM_016203.4(PRKAG2):c.1678+18G>T	PRKAG2 (D325Y +5 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2698986	NM_016203.4(PRKAG2):c.1678+18G>A	PRKAG2 (D325N +5 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1622601	NM_016203.4(PRKAG2):c.1678+16C>G	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 2885891	NM_016203.4(PRKAG2):c.1678+11G>T	PRKAG2	Single nucleotide variant (synonymous variant +1 more)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 533888	NM_016203.4(PRKAG2):c.1678+10T>C	PRKAG2	Single nucleotide variant (intron variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 923559	NM_016203.4(PRKAG2):c.1678+5A>G	PRKAG2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 925939	NM_016203.4(PRKAG2):c.1676C>T (p.Ala559Val)	PRKAG2 (A434V +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1331799	NM_016203.4(PRKAG2):c.1669A>C (p.Thr557Pro)	PRKAG2 (T316P +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1157222	NM_016203.4(PRKAG2):c.1668C>A (p.Leu556=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1777573	NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)	PRKAG2 (L431V +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 572811	NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe)	PRKAG2 (I555F +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 628515	NM_016203.4(PRKAG2):c.1662G>C (p.Leu554=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 512760	NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1171417	NM_016203.4(PRKAG2):c.1658C>A (p.Ala553Asp)	PRKAG2 (A312D +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3345872	NM_016203.4(PRKAG2):c.1655A>C (p.Gln552Pro)	PRKAG2 (Q310P +13 more)	Single nucleotide variant (missense variant)	PRKAG2-related disorder	GUncertain significance
Select item 581064	NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg)	PRKAG2 (Q552R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1670065	NM_016203.4(PRKAG2):c.1651C>T (p.Leu551=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart	GLikely benign
Select item 1777184	NM_016203.4(PRKAG2):c.1648A>G (p.Ile550Val)	PRKAG2 (I309V +13 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1001999	NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu)	PRKAG2 (I309L +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 181481	NM_016203.4(PRKAG2):c.1646A>C (p.Asp549Ala)	PRKAG2 (D549A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 45703	NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)	PRKAG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 567324	NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu)	PRKAG2 (S548L +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GLikely pathogenic
Select item 2030739	NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala)	PRKAG2 (S440A +13 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GLikely pathogenic
Select item 940664	NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr)	PRKAG2 (S504T +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 6856	NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)	PRKAG2 (S548P +4 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart	GUncertain significance

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