PRKAG2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129389950, LOC129999513 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129389931, LOC129389932 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	TRC-GCA22-1, TRC-GCA23-1 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999578, LOC129999579 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ATG9B, ATP6V0E2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC129389937, LOC129389938 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	LOC126860222, LOC126860223 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	LOC129999605, LOC129999606 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	LOC110121278, LOC110121279 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	LOC129999684, LOC129999685 +315 more	Copy number gain	See cases	GPathogenic
Select item 145486	GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1	ABCF2, ABCF2-H2BK1 +98 more	Copy number loss	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	ACTR3B, BLACE +271 more	Copy number loss	See cases	GPathogenic
Select item 154377	GRCh38/hg38 7q36.1-36.2(chr7:151424353-153358923)x1	ACTR3B, CRYGN +77 more	Copy number loss	See cases	GUncertain significance
Select item 359320	NM_016203.4(PRKAG2):c.*1061G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 6 +1 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 +2 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 +2 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)	Wolff-Parkinson-White pattern +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 359330	NM_016203.4(PRKAG2):c.*887G>A	PRKAG2	Single nucleotide variant (3 prime UTR variant)	Wolff-Parkinson-White pattern +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)	Hypertrophic cardiomyopathy 6 +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)	Hypertrophic cardiomyopathy 6 +1 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)	Hypertrophic cardiomyopathy 6 +1 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)	Hypertrophic cardiomyopathy 6 +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)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 177987	NM_016203.4(PRKAG2):c.*2C>T	PRKAG2	Single nucleotide variant (3 prime UTR variant)	not specified +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 (synonymous 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	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)	Lethal congenital glycogen storage disease of heart +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)	not specified +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)	not provided +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)	Cardiomyopathy +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)	not specified +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 familial hypertrophic 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)	Lethal congenital glycogen storage disease of heart +2 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

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