Prkag2 Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
9693488	CV174047	single nucleotide variant	NM_016203.4(PRKAG2):c.*2C>T	Cardiomyopathy [RCV001170149]\|Hypertrophic cardiomyopathy 6 [RCV001161429]\|Wolff-Parkinson-White pattern [RCV001162961]\|not specified [RCV000154664]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	7	151557199	151557199	Human	4	name
405065834	CV2934906	single nucleotide variant	NM_016203.4(PRKAG2):c.-3G>A	Cardiomyopathy [RCV003532812]	uncertain significance	7	151876623	151876623	Human	2	name
405720556	CV3231350	single nucleotide variant	NM_016203.4(PRKAG2):c.-1T>C	Hypertrophic cardiomyopathy [RCV004012756]	uncertain significance	7	151876621	151876621	Human	2	name
8608548	CV54849	single nucleotide variant	NM_016203.4(PRKAG2):c.*3G>A	Cardiomyopathy [RCV000770255]\|Cardiovascular phenotype [RCV000244193]\|Hypertrophic cardiomyopathy 6 [RCV000274098]\|Wolff-Parkinson-White pattern [RCV000366357]\|not provided [RCV000590039]\|not specified [RCV000038902]	benign\|likely benign	7	151557198	151557198	Human	4	name
14690158	CV617358	single nucleotide variant	NM_016203.4(PRKAG2):c.*6G>A	Cardiomyopathy [RCV000773514]\|Hypertrophic cardiomyopathy [RCV004000018]\|not provided [RCV001559095]	likely benign	7	151557195	151557195	Human	4	name
34897745	CV910819	single nucleotide variant	NM_016203.4(PRKAG2):c.*5C>T	Cardiomyopathy [RCV001186705]\|PRKAG2-related disorder [RCV004734038]\|not specified [RCV005408735]	benign\|likely benign	7	151557196	151557196	Human	2	name , alternate_id
34900932	CV910905	duplication	NM_016203.4(PRKAG2):c.-6dup	Cardiomyopathy [RCV001190879]\|Hypertrophic cardiomyopathy [RCV004010463]	uncertain significance	7	151876625	151876626	Human	4	name
150486612	CV1225770	single nucleotide variant	NM_016203.4(PRKAG2):c.-79C>G	not provided [RCV001617931]	benign	7	151876699	151876699	Human		name
150501556	CV1238427	single nucleotide variant	NM_016203.4(PRKAG2):c.*18G>A	not provided [RCV001656857]	benign	7	151557183	151557183	Human		name
11548800	CV252655	single nucleotide variant	NM_016203.4(PRKAG2):c.-26C>T	Hypertrophic cardiomyopathy 6 [RCV000344203]\|Lethal congenital glycogen storage disease of heart [RCV001519817]\|Wolff-Parkinson-White pattern [RCV000397796]\|not provided [RCV000675713]\|not specified [RCV000249566]	benign\|likely benign	7	151876646	151876646	Human	3	name
11604035	CV305440	single nucleotide variant	NM_016203.4(PRKAG2):c.*55C>T	Hypertrophic cardiomyopathy 6 [RCV000362501]\|Wolff-Parkinson-White pattern [RCV000305449]\|not provided [RCV002274998]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151557146	151557146	Human	2	name
11603579	CV305446	single nucleotide variant	NM_016203.4(PRKAG2):c.-40C>T	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000340917]\|Lethal congenital glycogen storage disease of heart [RCV000397799]\|Wolff-Parkinson-White pattern [RCV001795985]\|not provided [RCV001712759]	benign\|uncertain significance	7	151876660	151876660	Human	2	name
11605011	CV305447	single nucleotide variant	NM_016203.4(PRKAG2):c.-90G>T	Hypertrophic cardiomyopathy 6 [RCV000354416]\|Wolff-Parkinson-White pattern [RCV000314775]\|not provided [RCV001540580]	benign\|likely benign	7	151876710	151876710	Human	2	name
11602259	CV310329	single nucleotide variant	NM_016203.4(PRKAG2):c.-16A>G	Hypertrophic cardiomyopathy 6 [RCV000289261]\|Wolff-Parkinson-White pattern [RCV000383710]\|not provided [RCV000838507]	likely benign\|uncertain significance	7	151876636	151876636	Human	2	name
405721965	CV3231886	single nucleotide variant	NM_016203.4(PRKAG2):c.-15C>T	Hypertrophic cardiomyopathy [RCV004012908]	uncertain significance	7	151876635	151876635	Human	2	name
12836462	CV371064	single nucleotide variant	NM_016203.4(PRKAG2):c.-30G>A	not specified [RCV000423433]	benign	7	151876650	151876650	Human		name
13531053	CV501684	single nucleotide variant	NM_016203.4(PRKAG2):c.-39C>A	not specified [RCV000606343]	likely benign	7	151876659	151876659	Human		name
28910442	CV897694	single nucleotide variant	NM_016203.4(PRKAG2):c.*56G>A	Hypertrophic cardiomyopathy 6 [RCV001161427]\|Wolff-Parkinson-White pattern [RCV001161428]\|not provided [RCV001673022]	benign\|likely benign	7	151557145	151557145	Human	2	name
34893704	CV910906	single nucleotide variant	NM_016203.4(PRKAG2):c.-12C>G	Cardiomyopathy [RCV001184069]	uncertain significance	7	151876632	151876632	Human	2	name
150482369	CV1247444	single nucleotide variant	NM_016203.4(PRKAG2):c.*301A>G	not provided [RCV001673269]	benign	7	151556900	151556900	Human		name
150503113	CV1257716	single nucleotide variant	NM_016203.4(PRKAG2):c.-368C>T	not provided [RCV001677404]	benign	7	151876988	151876988	Human		name
150500194	CV1283350	single nucleotide variant	NM_016203.4(PRKAG2):c.-354T>G	not provided [RCV001718343]	benign	7	151876974	151876974	Human		name
11586730	CV302212	single nucleotide variant	NM_016203.4(PRKAG2):c.*612G>A	Hypertrophic cardiomyopathy 6 [RCV000289748]\|Wolff-Parkinson-White pattern [RCV000345925]	uncertain significance	7	151556589	151556589	Human	2	name
11646760	CV302214	single nucleotide variant	NM_016203.4(PRKAG2):c.*350C>A	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000386728]\|Lethal congenital glycogen storage disease of heart [RCV000330010]\|Wolff-Parkinson-White pattern [RCV001795981]	uncertain significance	7	151556851	151556851	Human	2	name
11592281	CV302215	single nucleotide variant	NM_016203.4(PRKAG2):c.*127C>G	Hypertrophic cardiomyopathy 6 [RCV000394309]\|Wolff-Parkinson-White pattern [RCV000337170]\|not provided [RCV001653719]	benign\|uncertain significance	7	151557074	151557074	Human	2	name
11588330	CV302216	single nucleotide variant	NM_016203.4(PRKAG2):c.*112A>G	Hypertrophic cardiomyopathy 6 [RCV000302071]\|Wolff-Parkinson-White pattern [RCV000340560]\|not provided [RCV001712349]	benign\|likely benign	7	151557089	151557089	Human	2	name
11584062	CV302224	single nucleotide variant	NM_016203.4(PRKAG2):c.-252C>T	Hypertrophic cardiomyopathy 6 [RCV000326598]\|Wolff-Parkinson-White pattern [RCV000271031]	uncertain significance	7	151876872	151876872	Human	2	name
11589831	CV302225	single nucleotide variant	NM_016203.4(PRKAG2):c.-322T>C	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000368759]\|Lethal congenital glycogen storage disease of heart [RCV000396048]\|Wolff-Parkinson-White pattern [RCV001795987]\|not provided [RCV001643087]	benign\|uncertain significance	7	151876942	151876942	Human	2	name
11604556	CV305396	single nucleotide variant	NM_016203.4(PRKAG2):c.*964G>A	Hypertrophic cardiomyopathy 6 [RCV000343930]\|Wolff-Parkinson-White pattern [RCV000310466]	uncertain significance	7	151556237	151556237	Human	2	name
11644398	CV305405	single nucleotide variant	NM_016203.4(PRKAG2):c.*887G>A	Hypertrophic cardiomyopathy 6 [RCV000259979]\|Wolff-Parkinson-White pattern [RCV000317503]	uncertain significance	7	151556314	151556314	Human	2	name
11601913	CV305406	single nucleotide variant	NM_016203.4(PRKAG2):c.*614A>T	Hypertrophic cardiomyopathy 6 [RCV000378132]\|Wolff-Parkinson-White pattern [RCV000286192]\|not provided [RCV003311780]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151556587	151556587	Human	2	name
11608323	CV305426	single nucleotide variant	NM_016203.4(PRKAG2):c.*522G>T	Hypertrophic cardiomyopathy 6 [RCV000395643]\|Wolff-Parkinson-White pattern [RCV000353757]\|not provided [RCV004712380]	benign\|likely benign	7	151556679	151556679	Human	2	name
11602875	CV305434	single nucleotide variant	NM_016203.4(PRKAG2):c.*135T>C	Hypertrophic cardiomyopathy 6 [RCV000294864]\|Wolff-Parkinson-White pattern [RCV000371850]\|not provided [RCV001712758]	benign\|likely benign\|uncertain significance	7	151557066	151557066	Human	2	name
11657048	CV305448	single nucleotide variant	NM_016203.4(PRKAG2):c.-274C>A	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000377561]\|Lethal congenital glycogen storage disease of heart [RCV000283061]\|Wolff-Parkinson-White pattern [RCV001795986]	uncertain significance	7	151876894	151876894	Human	2	name
11645820	CV305449	single nucleotide variant	NM_016203.3(PRKAG2):c.-517G>T	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000377271]\|Lethal congenital glycogen storage disease of heart [RCV000320365]\|Wolff-Parkinson-White pattern [RCV001795989]	uncertain significance	7	151877137	151877137	Human	2	name
11608271	CV305450	single nucleotide variant	NM_016203.3(PRKAG2):c.-560C>T	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000352884]\|Wolff-Parkinson-White pattern [RCV001795991]\|not provided [RCV001653720]	benign\|likely benign	7	151877180	151877180	Human	1	name
11660068	CV305452	single nucleotide variant	NM_016203.3(PRKAG2):c.-580C>T	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000394232]\|Lethal congenital glycogen storage disease of heart [RCV000307282]\|Wolff-Parkinson-White pattern [RCV001795993]	uncertain significance	7	151877200	151877200	Human	2	name
11604889	CV310209	deletion	NM_016203.4(PRKAG2):c.*896del	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000367588]\|Lethal congenital glycogen storage disease of heart [RCV000402034]\|Wolff-Parkinson-White pattern [RCV001795980]\|not provided [RCV002263657]	benign\|uncertain significance	7	151556305	151556305	Human	2	name
11608038	CV310221	single nucleotide variant	NM_016203.4(PRKAG2):c.*572G>A	Hypertrophic cardiomyopathy 6 [RCV000396265]\|Wolff-Parkinson-White pattern [RCV000350461]	likely benign\|uncertain significance	7	151556629	151556629	Human	2	name
11608561	CV310227	single nucleotide variant	NM_016203.4(PRKAG2):c.*452C>T	Hypertrophic cardiomyopathy 6 [RCV000399390]\|Wolff-Parkinson-White pattern [RCV000357118]\|not provided [RCV004705432]	benign\|likely benign	7	151556749	151556749	Human	2	name
11655413	CV310228	single nucleotide variant	NM_016203.4(PRKAG2):c.*365G>A	Hypertrophic cardiomyopathy 6 [RCV000325680]\|Wolff-Parkinson-White pattern [RCV000382572]\|not provided [RCV001613195]	benign\|uncertain significance	7	151556836	151556836	Human	2	name
11653358	CV310230	single nucleotide variant	NM_016203.4(PRKAG2):c.-351G>A	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000310605]\|Lethal congenital glycogen storage disease of heart [RCV000365195]\|Wolff-Parkinson-White pattern [RCV001795988]	uncertain significance	7	151876971	151876971	Human	2	name
11646453	CV310234	single nucleotide variant	NM_016203.4(PRKAG2):c.-397G>C	Hypertrophic cardiomyopathy 6 [RCV000325840]\|Lethal congenital glycogen storage disease of heart [RCV002504177]\|Wolff-Parkinson-White pattern [RCV000270721]	uncertain significance	7	151877017	151877017	Human	3	name
11601189	CV310235	single nucleotide variant	NM_016203.3(PRKAG2):c.-520C>T	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000280378]\|Wolff-Parkinson-White pattern [RCV001795990]\|not provided [RCV000832993]	likely benign\|uncertain significance	7	151877140	151877140	Human	1	name
11645085	CV310325	single nucleotide variant	NM_016203.4(PRKAG2):c.*835T>C	Hypertrophic cardiomyopathy 6 [RCV000356162]\|Wolff-Parkinson-White pattern [RCV000263727]	uncertain significance	7	151556366	151556366	Human	2	name
11605658	CV310327	single nucleotide variant	NM_016203.4(PRKAG2):c.*384C>T	Hypertrophic cardiomyopathy 6 [RCV000322247]\|Wolff-Parkinson-White pattern [RCV000360385]\|not provided [RCV001672688]	benign\|likely benign	7	151556817	151556817	Human	2	name
11600514	CV310346	single nucleotide variant	NM_016203.4(PRKAG2):c.-249G>C	Hypertrophic cardiomyopathy 6 [RCV000274612]\|Wolff-Parkinson-White pattern [RCV000329659]	uncertain significance	7	151876869	151876869	Human	2	name
11657478	CV310347	single nucleotide variant	NM_016203.4(PRKAG2):c.-262C>T	Hypertrophic cardiomyopathy 6 [RCV000341758]\|Wolff-Parkinson-White pattern [RCV000381236]	uncertain significance	7	151876882	151876882	Human	2	name
11603323	CV310357	single nucleotide variant	NM_016203.4(PRKAG2):c.-287C>G	Hypertrophic cardiomyopathy 6 [RCV000298730]\|Wolff-Parkinson-White pattern [RCV000334961]\|not provided [RCV001576050]	likely benign\|uncertain significance	7	151876907	151876907	Human	2	name
11650628	CV310359	single nucleotide variant	NM_016203.3(PRKAG2):c.-575C>T	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000394230]\|Lethal congenital glycogen storage disease of heart [RCV000346834]\|Wolff-Parkinson-White pattern [RCV001795992]	uncertain significance	7	151877195	151877195	Human	2	name
405271955	CV3201129	single nucleotide variant	NM_016203.3(PRKAG2):c.-514G>T	PRKAG2-related disorder [RCV004531845]	likely benign	7	151877134	151877134	Human		name , trait , alternate_id
14712724	CV662801	single nucleotide variant	NM_016203.3(PRKAG2):c.-769G>C	not provided [RCV000828513]	benign	7	151877389	151877389	Human		name
28873302	CV897685	single nucleotide variant	NM_016203.4(PRKAG2):c.*953T>A	Hypertrophic cardiomyopathy 6 [RCV001164816]\|Wolff-Parkinson-White pattern [RCV001164817]	uncertain significance	7	151556248	151556248	Human	2	name
28908072	CV897686	single nucleotide variant	NM_016203.4(PRKAG2):c.*771C>T	Hypertrophic cardiomyopathy 6 [RCV001159903]\|Wolff-Parkinson-White pattern [RCV001159904]	uncertain significance	7	151556430	151556430	Human	2	name
28910298	CV897687	single nucleotide variant	NM_016203.4(PRKAG2):c.*471T>C	Hypertrophic cardiomyopathy 6 [RCV001161305]\|Wolff-Parkinson-White pattern [RCV001161306]	uncertain significance	7	151556730	151556730	Human	2	name
28869016	CV897688	single nucleotide variant	NM_016203.4(PRKAG2):c.*450T>C	Hypertrophic cardiomyopathy 6 [RCV001162859]\|Wolff-Parkinson-White pattern [RCV001162858]	uncertain significance	7	151556751	151556751	Human	2	name
28869019	CV897689	single nucleotide variant	NM_016203.4(PRKAG2):c.*419C>T	Hypertrophic cardiomyopathy 6 [RCV001162861]\|Wolff-Parkinson-White pattern [RCV001162860]	uncertain significance	7	151556782	151556782	Human	2	name
28869022	CV897690	single nucleotide variant	NM_016203.4(PRKAG2):c.*399G>A	Hypertrophic cardiomyopathy 6 [RCV001162862]\|Wolff-Parkinson-White pattern [RCV001162863]\|not provided [RCV001683744]	benign\|likely benign	7	151556802	151556802	Human	2	name
28869025	CV897691	single nucleotide variant	NM_016203.4(PRKAG2):c.*398C>T	Hypertrophic cardiomyopathy 6 [RCV001164922]\|Wolff-Parkinson-White pattern [RCV001162864]	uncertain significance	7	151556803	151556803	Human	2	name
28873494	CV897692	single nucleotide variant	NM_016203.4(PRKAG2):c.*256T>G	Hypertrophic cardiomyopathy 6 [RCV001164924]\|Wolff-Parkinson-White pattern [RCV001164923]	uncertain significance	7	151556945	151556945	Human	2	name
28873496	CV897693	single nucleotide variant	NM_016203.4(PRKAG2):c.*156A>G	Hypertrophic cardiomyopathy 6 [RCV001164925]\|Wolff-Parkinson-White pattern [RCV001160008]	uncertain significance	7	151557045	151557045	Human	2	name
28869869	CV897700	single nucleotide variant	NM_016203.4(PRKAG2):c.-481G>A	Hypertrophic cardiomyopathy 6 [RCV001161763]\|Wolff-Parkinson-White pattern [RCV001163288]\|not provided [RCV004695041]	uncertain significance	7	151877101	151877101	Human	2	name
34889131	CV910904	microsatellite	NM_016203.4(PRKAG2):c.-6AG[1]	Cardiomyopathy [RCV001181270]	uncertain significance	7	151876623	151876624	Human		name
126744730	CV1007363	single nucleotide variant	NM_016203.4(PRKAG2):c.466+6A>G	Lethal congenital glycogen storage disease of heart [RCV001314976]	uncertain significance	7	151781146	151781146	Human	1	name
126915482	CV1044822	single nucleotide variant	NM_016203.4(PRKAG2):c.114+3G>A	Cardiomyopathy [RCV001524478]\|Lethal congenital glycogen storage disease of heart [RCV001370939]	uncertain significance	7	151876504	151876504	Human	3	name
127273663	CV1096188	single nucleotide variant	NM_016203.4(PRKAG2):c.685-5C>T	Lethal congenital glycogen storage disease of heart [RCV001442635]	likely benign	7	151632143	151632143	Human	1	name
127335901	CV1138636	single nucleotide variant	NM_016203.4(PRKAG2):c.946+8G>A	Lethal congenital glycogen storage disease of heart [RCV001491782]	likely benign	7	151576363	151576363	Human	1	name
127323100	CV1160721	single nucleotide variant	NM_016203.4(PRKAG2):c.466+2T>G	Cardiomyopathy [RCV001523849]\|Hypertrophic cardiomyopathy [RCV004007235]\|Lethal congenital glycogen storage disease of heart [RCV001872008]\|not provided [RCV002224083]	uncertain significance	7	151781150	151781150	Human	5	name
152072415	CV1591831	single nucleotide variant	NM_016203.4(PRKAG2):c.187-9T>C	Lethal congenital glycogen storage disease of heart [RCV002210153]	likely benign	7	151781440	151781440	Human	1	name
152042020	CV1621636	single nucleotide variant	NM_016203.4(PRKAG2):c.946+7A>G	Lethal congenital glycogen storage disease of heart [RCV002107872]	likely benign	7	151576364	151576364	Human	1	name
152038360	CV1669261	single nucleotide variant	NM_016203.4(PRKAG2):c.685-1G>A	Cardiovascular phenotype [RCV003348818]\|Lethal congenital glycogen storage disease of heart [RCV003101266]\|not provided [RCV002224313]	uncertain significance	7	151632139	151632139	Human	1	name
155664121	CV1785936	single nucleotide variant	NM_016203.4(PRKAG2):c.114+2T>G	Cardiovascular phenotype [RCV002451957]	uncertain significance	7	151876505	151876505	Human		name
9833381	CV179120	single nucleotide variant	NM_016203.4(PRKAG2):c.946+3A>G	Cardiomyopathy [RCV001170702]\|Cardiovascular phenotype [RCV002444660]\|Lethal congenital glycogen storage disease of heart [RCV000475665]\|not provided [RCV001721012]\|not specified [RCV000216046]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151576368	151576368	Human	3	name
155707010	CV1798532	single nucleotide variant	NM_016203.4(PRKAG2):c.467-2A>G	Cardiovascular phenotype [RCV002335162]\|Hypertrophic cardiomyopathy [RCV004808271]	uncertain significance	7	151675639	151675639	Human	2	name
156099687	CV1920658	single nucleotide variant	NM_016203.4(PRKAG2):c.685-9C>A	Lethal congenital glycogen storage disease of heart [RCV002592228]	likely benign	7	151632147	151632147	Human	1	name
156222351	CV2037753	single nucleotide variant	NM_016203.4(PRKAG2):c.755-7C>A	Lethal congenital glycogen storage disease of heart [RCV002790675]	likely benign	7	151595461	151595461	Human	1	name
156156202	CV2067125	single nucleotide variant	NM_016203.4(PRKAG2):c.947-7G>C	Lethal congenital glycogen storage disease of heart [RCV002851042]	likely benign	7	151574956	151574956	Human	1	name
155943442	CV2072374	single nucleotide variant	NM_016203.4(PRKAG2):c.684+1G>C	Lethal congenital glycogen storage disease of heart [RCV002861926]	uncertain significance	7	151675419	151675419	Human	1	name
156322790	CV2166836	single nucleotide variant	NM_016203.4(PRKAG2):c.685-3C>A	Lethal congenital glycogen storage disease of heart [RCV003029288]	uncertain significance	7	151632141	151632141	Human	1	name
156377869	CV2189218	single nucleotide variant	NM_016203.4(PRKAG2):c.186+3A>G	Lethal congenital glycogen storage disease of heart [RCV003050258]	uncertain significance	7	151786467	151786467	Human	1	name
401907119	CV2800097	single nucleotide variant	NM_016203.4(PRKAG2):c.466+1G>C	Lethal congenital glycogen storage disease of heart [RCV003618076]\|PRKAG2-related disorder [RCV004529635]	uncertain significance	7	151781151	151781151	Human	1	name , alternate_id
402499083	CV2881683	single nucleotide variant	NM_016203.4(PRKAG2):c.115-9C>T	Lethal congenital glycogen storage disease of heart [RCV003508516]	likely benign	7	151786550	151786550	Human	1	name
402499860	CV2892640	single nucleotide variant	NM_016203.4(PRKAG2):c.186+4A>C	Lethal congenital glycogen storage disease of heart [RCV003508597]	uncertain significance	7	151786466	151786466	Human	1	name
405065824	CV2934905	single nucleotide variant	NM_016203.4(PRKAG2):c.187-5T>C	Cardiomyopathy [RCV003532811]	likely benign	7	151781436	151781436	Human	2	name
405132459	CV2969616	single nucleotide variant	NM_016203.4(PRKAG2):c.946+9T>C	Lethal congenital glycogen storage disease of heart [RCV003618436]	likely benign	7	151576362	151576362	Human	1	name
11584204	CV302196	single nucleotide variant	NM_016203.4(PRKAG2):c.*1061G>A	Hypertrophic cardiomyopathy 6 [RCV000386556]\|Wolff-Parkinson-White pattern [RCV000272209]\|not provided [RCV004712379]	benign\|likely benign	7	151556140	151556140	Human	2	name
11650644	CV302201	duplication	NM_016203.4(PRKAG2):c.*1041dup	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000351534]\|Lethal congenital glycogen storage disease of heart [RCV000389732]\|Wolff-Parkinson-White pattern [RCV001795974]	uncertain significance	7	151556159	151556160	Human	2	name
11634661	CV302204	duplication	NM_016203.4(PRKAG2):c.*1040dup	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000272481]\|Lethal congenital glycogen storage disease of heart [RCV000304514]\|Wolff-Parkinson-White pattern [RCV001795975]\|not provided [RCV004696009]	uncertain significance	7	151556160	151556161	Human	2	name
11634788	CV302207	duplication	NM_016203.4(PRKAG2):c.*1029dup	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000276125]\|Lethal congenital glycogen storage disease of heart [RCV000386949]\|Wolff-Parkinson-White pattern [RCV001795977]\|not provided [RCV004696010]	uncertain significance	7	151556171	151556172	Human	2	name
11650674	CV302218	single nucleotide variant	NM_016203.4(PRKAG2):c.186+7C>T	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000394138]\|Lethal congenital glycogen storage disease of heart [RCV000348990]\|Wolff-Parkinson-White pattern [RCV001795984]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151786463	151786463	Human	2	name
11607123	CV305395	deletion	NM_016203.4(PRKAG2):c.*1040del	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000339741]\|Lethal congenital glycogen storage disease of heart [RCV000301228]\|Wolff-Parkinson-White pattern [RCV001795976]	uncertain significance	7	151556161	151556161	Human	2	name
11601562	CV310322	deletion	NM_016203.4(PRKAG2):c.*1021del	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000283191]\|Lethal congenital glycogen storage disease of heart [RCV000317970]\|Wolff-Parkinson-White pattern [RCV001795979]	likely benign	7	151556180	151556180	Human	2	name
11649293	CV310323	single nucleotide variant	NM_016203.4(PRKAG2):c.*1012T>G	Hypertrophic cardiomyopathy 6 [RCV000340489]\|Wolff-Parkinson-White pattern [RCV000286586]	uncertain significance	7	151556189	151556189	Human	2	name
405267998	CV3219562	single nucleotide variant	NM_016203.4(PRKAG2):c.115-5C>T	PRKAG2-related disorder [RCV004540828]	likely benign	7	151786546	151786546	Human		name , trait , alternate_id
405719129	CV3231220	deletion	NM_016203.4(PRKAG2):c.755-8del	Hypertrophic cardiomyopathy [RCV004012626]	uncertain significance	7	151595462	151595462	Human	2	name
405702700	CV3233466	single nucleotide variant	NM_016203.4(PRKAG2):c.755-2A>G	Hypertrophic cardiomyopathy [RCV004009922]	uncertain significance	7	151595456	151595456	Human	2	name
405752154	CV3234326	single nucleotide variant	NM_016203.4(PRKAG2):c.865-8T>C	Hypertrophic cardiomyopathy [RCV004016376]	likely benign	7	151576460	151576460	Human	2	name
405752253	CV3234339	single nucleotide variant	NM_016203.4(PRKAG2):c.865-7T>C	Hypertrophic cardiomyopathy [RCV004016389]	likely benign	7	151576459	151576459	Human	2	name
12838777	CV369635	single nucleotide variant	NM_016203.4(PRKAG2):c.685-3C>T	Lethal congenital glycogen storage disease of heart [RCV002524789]\|not specified [RCV000427584]	likely benign\|uncertain significance	7	151632141	151632141	Human	1	name
597848204	CV3762110	deletion	NM_016203.4(PRKAG2):c.685-5del	Lethal congenital glycogen storage disease of heart [RCV005087528]	benign	7	151632143	151632143	Human	1	name
597909208	CV3842786	single nucleotide variant	NM_016203.4(PRKAG2):c.684+4A>T	Lethal congenital glycogen storage disease of heart [RCV005184271]	uncertain significance	7	151675416	151675416	Human	1	name
616936903	CV4010860	single nucleotide variant	NM_016203.4(PRKAG2):c.187-7T>A	not specified [RCV005404207]	likely benign	7	151781438	151781438	Human		name
13494990	CV456900	single nucleotide variant	NM_016203.4(PRKAG2):c.947-7G>A	Cardiomyopathy [RCV001176066]\|Hypertrophic cardiomyopathy 6 [RCV001161536]\|Lethal congenital glycogen storage disease of heart [RCV000559308]\|Wolff-Parkinson-White pattern [RCV001158339]	likely benign\|uncertain significance	7	151574956	151574956	Human	5	name
13539121	CV502008	single nucleotide variant	NM_016203.4(PRKAG2):c.685-5C>A	Cardiomyopathy [RCV001186531]\|Cardiovascular phenotype [RCV002368090]\|Lethal congenital glycogen storage disease of heart [RCV001240280]\|not specified [RCV000612836]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151632143	151632143	Human	3	name
13610390	CV523157	single nucleotide variant	NM_016203.4(PRKAG2):c.467-2A>T	Lethal congenital glycogen storage disease of heart [RCV000641186]\|not provided [RCV000786196]	uncertain significance	7	151675639	151675639	Human	1	name
13610400	CV523159	duplication	NM_016203.4(PRKAG2):c.187-7dup	Lethal congenital glycogen storage disease of heart [RCV000641194]	likely benign	7	151781437	151781438	Human	1	name
8608584	CV54885	single nucleotide variant	NM_016203.4(PRKAG2):c.466+7C>A	Lethal congenital glycogen storage disease of heart [RCV002513517]\|not specified [RCV000038942]	likely benign	7	151781145	151781145	Human	1	name
8608594	CV54896	single nucleotide variant	NM_016203.4(PRKAG2):c.685-7C>A	Cardiomyopathy [RCV001184218]\|Lethal congenital glycogen storage disease of heart [RCV001299347]\|not specified [RCV000038953]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151632145	151632145	Human	3	name
8608595	CV54897	single nucleotide variant	NM_016203.4(PRKAG2):c.685-8C>T	Lethal congenital glycogen storage disease of heart [RCV002054724]\|not specified [RCV000038954]	likely benign	7	151632146	151632146	Human	1	name
13805353	CV561755	single nucleotide variant	NM_016203.4(PRKAG2):c.466+1G>A	Lethal congenital glycogen storage disease of heart [RCV000685671]	uncertain significance	7	151781151	151781151	Human	1	name
15131913	CV759522	single nucleotide variant	NM_016203.4(PRKAG2):c.865-7T>G	Lethal congenital glycogen storage disease of heart [RCV001464463]	likely benign	7	151576459	151576459	Human	1	name
15169495	CV759526	single nucleotide variant	NM_016203.4(PRKAG2):c.187-4G>A	Cardiomyopathy [RCV001179793]\|Cardiovascular phenotype [RCV002409195]\|Hypertrophic cardiomyopathy [RCV004003219]\|Lethal congenital glycogen storage disease of heart [RCV000927510]	likely benign\|uncertain significance	7	151781435	151781435	Human	5	name
15132523	CV759562	single nucleotide variant	NM_016203.4(PRKAG2):c.466+8C>T	Lethal congenital glycogen storage disease of heart [RCV001487107]	likely benign	7	151781144	151781144	Human	1	name
15197944	CV775143	single nucleotide variant	NM_016203.4(PRKAG2):c.187-8T>C	Cardiomyopathy [RCV001525138]\|Lethal congenital glycogen storage disease of heart [RCV001488037]	likely benign	7	151781439	151781439	Human	3	name
26905329	CV851634	single nucleotide variant	NM_016203.4(PRKAG2):c.685-6C>A	Lethal congenital glycogen storage disease of heart [RCV001051244]	likely benign\|uncertain significance	7	151632144	151632144	Human	1	name
28868844	CV897682	single nucleotide variant	NM_016203.4(PRKAG2):c.*1043G>A	Hypertrophic cardiomyopathy 6 [RCV001162745]\|Wolff-Parkinson-White pattern [RCV001162746]	uncertain significance	7	151556158	151556158	Human	2	name
28868848	CV897683	single nucleotide variant	NM_016203.4(PRKAG2):c.*1030T>G	Hypertrophic cardiomyopathy 6 [RCV001162748]\|Wolff-Parkinson-White pattern [RCV001162747]\|not provided [RCV002275306]	benign\|uncertain significance	7	151556171	151556171	Human	2	name
28868852	CV897684	single nucleotide variant	NM_016203.4(PRKAG2):c.*1021T>G	Hypertrophic cardiomyopathy 6 [RCV001162750]\|Wolff-Parkinson-White pattern [RCV001162749]	uncertain significance	7	151556180	151556180	Human	2	name
34898196	CV915439	single nucleotide variant	NM_016203.4(PRKAG2):c.685-6C>T	Cardiomyopathy [RCV001187056]\|Lethal congenital glycogen storage disease of heart [RCV002559966]	likely benign	7	151632144	151632144	Human	3	name
34889923	CV915899	single nucleotide variant	NM_016203.4(PRKAG2):c.755-8T>C	Cardiomyopathy [RCV001181755]\|Lethal congenital glycogen storage disease of heart [RCV005093847]	likely benign	7	151595462	151595462	Human	3	name
34894168	CV915905	single nucleotide variant	NM_016203.4(PRKAG2):c.684+1G>A	Cardiomyopathy [RCV001184415]\|Cardiovascular phenotype [RCV002365869]\|Hypertrophic cardiomyopathy [RCV004807386]\|Lethal congenital glycogen storage disease of heart [RCV005093894]\|not provided [RCV004697054]	uncertain significance	7	151675419	151675419	Human	5	name
34890913	CV916190	single nucleotide variant	NM_016203.4(PRKAG2):c.685-7C>T	Cardiomyopathy [RCV001182299]	likely benign	7	151632145	151632145	Human	2	name
34896233	CV916196	single nucleotide variant	NM_016203.4(PRKAG2):c.685-9C>T	Cardiomyopathy [RCV001185665]\|Lethal congenital glycogen storage disease of heart [RCV003617909]	likely benign	7	151632147	151632147	Human	3	name
126767191	CV992205	single nucleotide variant	NM_016203.4(PRKAG2):c.755-1G>A	Cardiomyopathy [RCV005403018]\|Cardiovascular phenotype [RCV004036230]\|Hypertrophic cardiomyopathy [RCV004807995]\|Lethal congenital glycogen storage disease of heart [RCV001302186]	uncertain significance	7	151595455	151595455	Human	5	name
126746170	CV992208	single nucleotide variant	NM_016203.4(PRKAG2):c.187-3C>T	Cardiomyopathy [RCV005403015]\|Lethal congenital glycogen storage disease of heart [RCV001296541]\|Lethal congenital glycogen storage disease of heart [RCV002476380]	uncertain significance	7	151781434	151781434	Human	3	name
126735362	CV1007361	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-1G>A	Lethal congenital glycogen storage disease of heart [RCV001324508]	uncertain significance	7	151557233	151557233	Human	1	name
126919805	CV1044819	single nucleotide variant	NM_016203.4(PRKAG2):c.1107-3C>T	Hypertrophic cardiomyopathy [RCV004808037]\|Lethal congenital glycogen storage disease of heart [RCV001373439]	uncertain significance	7	151568845	151568845	Human	3	name
127280142	CV1074568	single nucleotide variant	NM_016203.4(PRKAG2):c.1106+9G>A	Lethal congenital glycogen storage disease of heart [RCV001409618]	likely benign	7	151570162	151570162	Human	1	name
127311960	CV1117707	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+7A>G	Lethal congenital glycogen storage disease of heart [RCV001464263]	likely benign	7	151565339	151565339	Human	1	name
127325403	CV1160712	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+1G>A	Cardiomyopathy [RCV001525302]	uncertain significance	7	151565345	151565345	Human	2	name
127324554	CV1160715	single nucleotide variant	NM_016203.4(PRKAG2):c.1107-9C>T	Cardiomyopathy [RCV001524749]\|Lethal congenital glycogen storage disease of heart [RCV002568077]	likely benign	7	151568851	151568851	Human	3	name
150418477	CV1180306	duplication	NM_016203.4(PRKAG2):c.865-66dup	not provided [RCV001550617]	likely benign	7	151576508	151576509	Human		name
150422430	CV1180308	single nucleotide variant	NM_016203.4(PRKAG2):c.186+49G>A	not provided [RCV001552623]	likely benign	7	151786421	151786421	Human		name
150421299	CV1193915	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-8C>G	not provided [RCV001570486]	likely benign	7	151565893	151565893	Human		name
150477866	CV1218691	single nucleotide variant	NM_016203.4(PRKAG2):c.187-96G>A	not provided [RCV001616318]	benign	7	151781527	151781527	Human		name
150472518	CV1236354	deletion	NM_016203.4(PRKAG2):c.865-74del	not provided [RCV001651439]	benign	7	151576526	151576526	Human		name
150482553	CV1247473	single nucleotide variant	NM_016203.4(PRKAG2):c.865-87A>G	not provided [RCV001673299]	benign	7	151576539	151576539	Human		name
150506139	CV1254795	single nucleotide variant	NM_016203.4(PRKAG2):c.187-85A>G	not provided [RCV001678101]	benign	7	151781516	151781516	Human		name
150466163	CV1255694	single nucleotide variant	NM_016203.4(PRKAG2):c.467-75A>G	not provided [RCV001670328]	benign	7	151675712	151675712	Human		name
150484783	CV1263250	single nucleotide variant	NM_016203.4(PRKAG2):c.865-77A>G	not provided [RCV001686650]	benign	7	151576529	151576529	Human		name
150496582	CV1283356	single nucleotide variant	NM_016203.4(PRKAG2):c.466+51T>C	not provided [RCV001717690]	benign	7	151781101	151781101	Human		name
150496589	CV1283358	single nucleotide variant	NM_016203.4(PRKAG2):c.864+36T>A	not provided [RCV001717692]	benign	7	151595309	151595309	Human		name
150488109	CV1283953	single nucleotide variant	NM_016203.4(PRKAG2):c.187-61G>A	not provided [RCV001716052]	benign	7	151781492	151781492	Human		name
150532193	CV1294453	single nucleotide variant	NM_016203.4(PRKAG2):c.947-10T>G	not provided [RCV001751945]	uncertain significance	7	151574959	151574959	Human		name
151349165	CV1322838	single nucleotide variant	NM_016203.4(PRKAG2):c.467-10T>C	Cardiomyopathy [RCV001804634]\|Hypertrophic cardiomyopathy [RCV004009103]	likely benign	7	151675647	151675647	Human	4	name
151351150	CV1323402	single nucleotide variant	NM_016203.4(PRKAG2):c.467-15G>A	Cardiomyopathy [RCV001805730]\|Hypertrophic cardiomyopathy [RCV004009158]\|Lethal congenital glycogen storage disease of heart [RCV003772254]	likely benign	7	151675652	151675652	Human	5	name
151738775	CV1379246	single nucleotide variant	NM_016203.4(PRKAG2):c.754+17C>A	Lethal congenital glycogen storage disease of heart [RCV001911718]	likely benign\|uncertain significance	7	151632052	151632052	Human	1	name
151726815	CV1407977	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-3C>A	Cardiovascular phenotype [RCV005405769]\|Lethal congenital glycogen storage disease of heart [RCV001891825]\|not provided [RCV003487819]	uncertain significance	7	151564227	151564227	Human	1	name
151741777	CV1466905	single nucleotide variant	NM_016203.4(PRKAG2):c.1106+4A>C	Lethal congenital glycogen storage disease of heart [RCV001911991]	uncertain significance	7	151570167	151570167	Human	1	name
151780372	CV1480277	single nucleotide variant	NM_016203.4(PRKAG2):c.754+19C>G	Lethal congenital glycogen storage disease of heart [RCV001972024]	likely benign\|uncertain significance	7	151632050	151632050	Human	1	name
152167382	CV1524660	single nucleotide variant	NM_016203.4(PRKAG2):c.466+17A>G	Lethal congenital glycogen storage disease of heart [RCV002142147]	likely benign	7	151781135	151781135	Human	1	name
152123973	CV1527598	single nucleotide variant	NM_016203.4(PRKAG2):c.186+10C>T	Lethal congenital glycogen storage disease of heart [RCV002081954]	likely benign	7	151786460	151786460	Human	1	name
152111636	CV1550359	deletion	NM_016203.4(PRKAG2):c.1006-9del	Lethal congenital glycogen storage disease of heart [RCV002153129]	benign	7	151572718	151572718	Human	1	name
152125577	CV1554085	single nucleotide variant	NM_016203.4(PRKAG2):c.754+15C>T	Lethal congenital glycogen storage disease of heart [RCV002098775]	likely benign	7	151632054	151632054	Human	1	name
152119374	CV1558483	single nucleotide variant	NM_016203.4(PRKAG2):c.685-12C>T	Lethal congenital glycogen storage disease of heart [RCV002135510]	likely benign	7	151632150	151632150	Human	1	name
152033262	CV1568049	single nucleotide variant	NM_016203.4(PRKAG2):c.114+20C>T	Lethal congenital glycogen storage disease of heart [RCV002205139]	likely benign	7	151876487	151876487	Human	1	name
152050717	CV1569105	single nucleotide variant	NM_016203.4(PRKAG2):c.466+19T>C	Lethal congenital glycogen storage disease of heart [RCV002207487]\|not specified [RCV003388091]	likely benign	7	151781133	151781133	Human	1	name
152140948	CV1571344	single nucleotide variant	NM_016203.4(PRKAG2):c.1106+9G>T	Lethal congenital glycogen storage disease of heart [RCV002138166]	likely benign	7	151570162	151570162	Human	1	name
152083117	CV1589707	single nucleotide variant	NM_016203.4(PRKAG2):c.1399+9G>A	Lethal congenital glycogen storage disease of heart [RCV002113027]	likely benign	7	151565711	151565711	Human	1	name
152143167	CV1607515	single nucleotide variant	NM_016203.4(PRKAG2):c.864+20A>G	Lethal congenital glycogen storage disease of heart [RCV002101059]\|not specified [RCV005405836]	likely benign	7	151595325	151595325	Human	1	name
152048805	CV1615044	single nucleotide variant	NM_016203.4(PRKAG2):c.187-16G>A	Lethal congenital glycogen storage disease of heart [RCV002088880]	likely benign	7	151781447	151781447	Human	1	name
152163486	CV1646560	single nucleotide variant	NM_016203.4(PRKAG2):c.755-13T>G	Lethal congenital glycogen storage disease of heart [RCV002160060]	likely benign	7	151595467	151595467	Human	1	name
152067014	CV1660034	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-5T>C	Cardiomyopathy [RCV003533121]\|Lethal congenital glycogen storage disease of heart [RCV002147564]	likely benign	7	151564229	151564229	Human	3	name
152150569	CV1661539	single nucleotide variant	NM_016203.4(PRKAG2):c.947-11C>G	Lethal congenital glycogen storage disease of heart [RCV002179383]	likely benign	7	151574960	151574960	Human	1	name
152133421	CV1666306	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-7C>T	Lethal congenital glycogen storage disease of heart [RCV002099790]	likely benign	7	151557239	151557239	Human	1	name
9691048	CV174050	single nucleotide variant	NM_016203.4(PRKAG2):c.864+13C>T	Lethal congenital glycogen storage disease of heart [RCV002053893]\|not specified [RCV000156751]	likely benign	7	151595332	151595332	Human	1	name
9690800	CV174184	single nucleotide variant	NM_016203.4(PRKAG2):c.946+13G>C	not specified [RCV000156490]	likely benign	7	151576358	151576358	Human		name
9692113	CV174187	single nucleotide variant	NM_016203.4(PRKAG2):c.467-10T>G	Cardiomyopathy [RCV001185783]\|Hypertrophic cardiomyopathy [RCV003998215]\|Lethal congenital glycogen storage disease of heart [RCV002514921]\|not specified [RCV000151680]	likely benign\|uncertain significance	7	151675647	151675647	Human	5	name
156408857	CV1870363	single nucleotide variant	NM_016203.4(PRKAG2):c.466+19T>G	Lethal congenital glycogen storage disease of heart [RCV003071434]	likely benign	7	151781133	151781133	Human	1	name
156197640	CV1885944	single nucleotide variant	NM_016203.4(PRKAG2):c.754+11C>T	Lethal congenital glycogen storage disease of heart [RCV003084097]	likely benign	7	151632058	151632058	Human	1	name
156043556	CV1887300	single nucleotide variant	NM_016203.4(PRKAG2):c.115-20G>A	Lethal congenital glycogen storage disease of heart [RCV003078613]	likely benign	7	151786561	151786561	Human	1	name
156208803	CV1906125	single nucleotide variant	NM_016203.4(PRKAG2):c.467-19C>G	Lethal congenital glycogen storage disease of heart [RCV003084510]	likely benign	7	151675656	151675656	Human	1	name
156056708	CV1928789	single nucleotide variant	NM_016203.4(PRKAG2):c.684+10G>C	Lethal congenital glycogen storage disease of heart [RCV002620796]	likely benign	7	151675410	151675410	Human	1	name
156350701	CV1965398	single nucleotide variant	NM_016203.4(PRKAG2):c.115-18G>A	Lethal congenital glycogen storage disease of heart [RCV002581039]	likely benign	7	151786559	151786559	Human	1	name
156411173	CV1976958	single nucleotide variant	NM_016203.4(PRKAG2):c.114+14C>G	Lethal congenital glycogen storage disease of heart [RCV002608180]	likely benign	7	151876493	151876493	Human	1	name
156319582	CV2090565	single nucleotide variant	NM_016203.4(PRKAG2):c.684+14C>G	Lethal congenital glycogen storage disease of heart [RCV002899200]	likely benign	7	151675406	151675406	Human	1	name
156008999	CV2124447	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+1G>C	Lethal congenital glycogen storage disease of heart [RCV002948159]	uncertain significance	7	151568715	151568715	Human	1	name
11543127	CV252653	single nucleotide variant	NM_016203.4(PRKAG2):c.864+32G>T	not specified [RCV000242042]	likely benign	7	151595313	151595313	Human		name
11545952	CV252654	single nucleotide variant	NM_016203.4(PRKAG2):c.114+43C>T	not provided [RCV001651213]\|not specified [RCV000245832]	benign	7	151876464	151876464	Human		name
401862404	CV2753867	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-1G>A	Cardiovascular phenotype [RCV003358464]	uncertain significance	7	151572710	151572710	Human		name
402494227	CV2855894	single nucleotide variant	NM_016203.4(PRKAG2):c.754+10C>A	Lethal congenital glycogen storage disease of heart [RCV003508007]	likely benign	7	151632059	151632059	Human	1	name
402491333	CV2861260	single nucleotide variant	NM_016203.4(PRKAG2):c.864+10C>T	Lethal congenital glycogen storage disease of heart [RCV003507600]	likely benign	7	151595335	151595335	Human	1	name
402490784	CV2861452	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+6T>C	Lethal congenital glycogen storage disease of heart [RCV003507632]	uncertain significance	7	151565340	151565340	Human	1	name
402497342	CV2876614	single nucleotide variant	NM_016203.4(PRKAG2):c.754+17C>T	Lethal congenital glycogen storage disease of heart [RCV003508354]	likely benign	7	151632052	151632052	Human	1	name
402495412	CV2877804	single nucleotide variant	NM_016203.4(PRKAG2):c.755-18T>C	Lethal congenital glycogen storage disease of heart [RCV003508126]	likely benign	7	151595472	151595472	Human	1	name
402499610	CV2881964	single nucleotide variant	NM_016203.4(PRKAG2):c.467-16G>C	Lethal congenital glycogen storage disease of heart [RCV003508571]	likely benign	7	151675653	151675653	Human	1	name
402499887	CV2888927	single nucleotide variant	NM_016203.4(PRKAG2):c.946+15C>T	Lethal congenital glycogen storage disease of heart [RCV003508600]	likely benign	7	151576356	151576356	Human	1	name
402483725	CV2900102	single nucleotide variant	NM_016203.4(PRKAG2):c.946+10G>A	Lethal congenital glycogen storage disease of heart [RCV003506766]	likely benign	7	151576361	151576361	Human	1	name
402486597	CV2909215	single nucleotide variant	NM_016203.4(PRKAG2):c.947-18T>C	Lethal congenital glycogen storage disease of heart [RCV003507050]	likely benign	7	151574967	151574967	Human	1	name
402485728	CV2912637	single nucleotide variant	NM_016203.4(PRKAG2):c.755-19T>C	Lethal congenital glycogen storage disease of heart [RCV003506959]	likely benign	7	151595473	151595473	Human	1	name
402486188	CV2919361	single nucleotide variant	NM_016203.4(PRKAG2):c.1584+3G>A	Lethal congenital glycogen storage disease of heart [RCV003507008]	uncertain significance	7	151564075	151564075	Human	1	name
405130115	CV2945754	single nucleotide variant	NM_016203.4(PRKAG2):c.864+19C>T	Lethal congenital glycogen storage disease of heart [RCV003618187]	likely benign	7	151595326	151595326	Human	1	name
405133787	CV2986419	single nucleotide variant	NM_016203.4(PRKAG2):c.947-15A>C	Lethal congenital glycogen storage disease of heart [RCV003618599]	likely benign	7	151574964	151574964	Human	1	name
405123146	CV2996933	single nucleotide variant	NM_016203.4(PRKAG2):c.1399+8T>G	Lethal congenital glycogen storage disease of heart [RCV003617317]	likely benign	7	151565712	151565712	Human	1	name
405124159	CV3015995	single nucleotide variant	NM_016203.4(PRKAG2):c.1051+6C>G	Lethal congenital glycogen storage disease of heart [RCV003617438]	uncertain significance	7	151572658	151572658	Human	1	name
405124167	CV3016070	single nucleotide variant	NM_016203.4(PRKAG2):c.466+18T>C	Lethal congenital glycogen storage disease of heart [RCV003617439]	uncertain significance	7	151781134	151781134	Human	1	name
405125180	CV3021933	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-4G>A	Lethal congenital glycogen storage disease of heart [RCV003617556]	likely benign	7	151572713	151572713	Human	1	name
405127271	CV3034598	single nucleotide variant	NM_016203.4(PRKAG2):c.684+19G>A	Lethal congenital glycogen storage disease of heart [RCV003617658]	likely benign	7	151675401	151675401	Human	1	name
405135874	CV3051710	single nucleotide variant	NM_016203.4(PRKAG2):c.947-19A>G	Lethal congenital glycogen storage disease of heart [RCV003618812]	likely benign	7	151574968	151574968	Human	1	name
405126718	CV3053564	single nucleotide variant	NM_016203.4(PRKAG2):c.864+20A>T	Lethal congenital glycogen storage disease of heart [RCV003617757]	likely benign	7	151595325	151595325	Human	1	name
405139891	CV3078698	single nucleotide variant	NM_016203.4(PRKAG2):c.754+18G>A	Lethal congenital glycogen storage disease of heart [RCV003619023]	likely benign	7	151632051	151632051	Human	1	name
405139034	CV3080555	single nucleotide variant	NM_016203.4(PRKAG2):c.466+11G>C	Lethal congenital glycogen storage disease of heart [RCV003619118]	likely benign	7	151781141	151781141	Human	1	name
402523244	CV3175823	single nucleotide variant	NM_016203.4(PRKAG2):c.755-10T>C	Lethal congenital glycogen storage disease of heart [RCV003879923]	likely benign	7	151595464	151595464	Human	1	name
405291978	CV3221195	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+7A>T	PRKAG2-related disorder [RCV004545704]	likely benign	7	151568709	151568709	Human		name , trait , alternate_id
405740415	CV3229227	single nucleotide variant	NM_016203.4(PRKAG2):c.187-13T>C	Hypertrophic cardiomyopathy [RCV004014970]	likely benign	7	151781444	151781444	Human	2	name
405718932	CV3231177	single nucleotide variant	NM_016203.4(PRKAG2):c.1107-4A>T	Hypertrophic cardiomyopathy [RCV004012583]	uncertain significance	7	151568846	151568846	Human	2	name
405718990	CV3231183	duplication	NM_016203.4(PRKAG2):c.1107-5dup	Hypertrophic cardiomyopathy [RCV004012589]	uncertain significance	7	151568846	151568847	Human	2	name
405720932	CV3231389	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-3C>T	Hypertrophic cardiomyopathy [RCV004012796]	likely benign	7	151564227	151564227	Human	2	name
405752106	CV3232054	single nucleotide variant	NM_016203.4(PRKAG2):c.1400-4T>A	Hypertrophic cardiomyopathy [RCV004016370]	uncertain significance	7	151565387	151565387	Human	2	name
408365306	CV3501527	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-2A>G	Hypertrophic cardiomyopathy 6 [RCV004720735]	uncertain significance	7	151565887	151565887	Human	1	name
596943494	CV3546655	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-7A>G	Hypertrophic cardiomyopathy [RCV004807780]	likely benign	7	151564231	151564231	Human	2	name
596943492	CV3546656	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+1G>T	Hypertrophic cardiomyopathy [RCV004807781]	uncertain significance	7	151565345	151565345	Human	2	name
12833516	CV369640	single nucleotide variant	NM_016203.4(PRKAG2):c.186+20A>C	Lethal congenital glycogen storage disease of heart [RCV002062510]\|not specified [RCV000418658]	likely benign	7	151786450	151786450	Human	1	name
12834237	CV371031	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-3C>T	Cardiomyopathy [RCV001188898]\|Cardiovascular phenotype [RCV000619783]\|Lethal congenital glycogen storage disease of heart [RCV000804163]\|not specified [RCV000420021]	likely benign\|uncertain significance	7	151557235	151557235	Human	3	name
12839786	CV371040	single nucleotide variant	NM_016203.4(PRKAG2):c.946+19A>G	Lethal congenital glycogen storage disease of heart [RCV002063363]\|not specified [RCV000429469]	likely benign	7	151576352	151576352	Human	1	name
12835590	CV371057	single nucleotide variant	NM_016203.4(PRKAG2):c.186+12T>C	Lethal congenital glycogen storage disease of heart [RCV003617814]\|not provided [RCV003736772]\|not specified [RCV000421959]	likely benign	7	151786458	151786458	Human	1	name
597830626	CV3743163	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+8T>C	Lethal congenital glycogen storage disease of heart [RCV005062171]	likely benign	7	151565338	151565338	Human	1	name
597831763	CV3743690	single nucleotide variant	NM_016203.4(PRKAG2):c.864+14A>G	Lethal congenital glycogen storage disease of heart [RCV005062507]	likely benign	7	151595331	151595331	Human	1	name
597943176	CV3757928	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+7T>C	Lethal congenital glycogen storage disease of heart [RCV005077927]	likely benign	7	151560517	151560517	Human	1	name
597846934	CV3768151	single nucleotide variant	NM_016203.4(PRKAG2):c.685-15C>A	Lethal congenital glycogen storage disease of heart [RCV005122530]	likely benign	7	151632153	151632153	Human	1	name
597841201	CV3772563	duplication	NM_016203.4(PRKAG2):c.1437+2dup	Lethal congenital glycogen storage disease of heart [RCV005115713]	uncertain significance	7	151565343	151565344	Human	1	name
597848435	CV3783528	single nucleotide variant	NM_016203.4(PRKAG2):c.946+14G>T	Lethal congenital glycogen storage disease of heart [RCV005124024]	likely benign	7	151576357	151576357	Human	1	name
597857036	CV3789272	single nucleotide variant	NM_016203.4(PRKAG2):c.684+12C>A	Lethal congenital glycogen storage disease of heart [RCV005131553]	likely benign	7	151675408	151675408	Human	1	name
597875582	CV3804286	single nucleotide variant	NM_016203.4(PRKAG2):c.114+17G>C	Lethal congenital glycogen storage disease of heart [RCV005150737]	likely benign	7	151876490	151876490	Human	1	name
597909283	CV3839439	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-3C>T	Cardiovascular phenotype [RCV005258036]\|Lethal congenital glycogen storage disease of heart [RCV005184371]	uncertain significance	7	151572712	151572712	Human	1	name
597911228	CV3844837	single nucleotide variant	NM_016203.4(PRKAG2):c.685-11C>T	Lethal congenital glycogen storage disease of heart [RCV005186343]	likely benign	7	151632149	151632149	Human	1	name
597913788	CV3844920	single nucleotide variant	NM_016203.4(PRKAG2):c.467-17T>G	Lethal congenital glycogen storage disease of heart [RCV005188906]	likely benign	7	151675654	151675654	Human	1	name
597912085	CV3852774	single nucleotide variant	NM_016203.4(PRKAG2):c.947-17G>A	Lethal congenital glycogen storage disease of heart [RCV005187174]	likely benign	7	151574966	151574966	Human	1	name
12901825	CV407071	duplication	NM_016203.4(PRKAG2):c.754+13dup	Cardiomyopathy [RCV003150238]\|Lethal congenital glycogen storage disease of heart [RCV002063716]\|not specified [RCV000485644]	benign\|likely benign\|uncertain significance	7	151632055	151632056	Human	3	name
13464382	CV456500	single nucleotide variant	NM_016203.4(PRKAG2):c.1584+8G>A	Cardiomyopathy [RCV001798878]\|Lethal congenital glycogen storage disease of heart [RCV000542145]\|not provided [RCV003424111]\|not specified [RCV001269251]	likely benign\|uncertain significance	7	151564070	151564070	Human	3	name
13537461	CV501675	single nucleotide variant	NM_016203.4(PRKAG2):c.754+14G>T	Lethal congenital glycogen storage disease of heart [RCV002066775]\|not specified [RCV000610435]	likely benign	7	151632055	151632055	Human	1	name
13536971	CV502007	single nucleotide variant	NM_016203.4(PRKAG2):c.864+10C>G	Lethal congenital glycogen storage disease of heart [RCV001489242]\|not specified [RCV000609739]	likely benign	7	151595335	151595335	Human	1	name
13627074	CV522487	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-7C>T	Cardiomyopathy [RCV001524937]\|Lethal congenital glycogen storage disease of heart [RCV001445710]\|not specified [RCV003488751]	likely benign	7	151565892	151565892	Human	3	name
13610396	CV522717	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+6T>C	Lethal congenital glycogen storage disease of heart [RCV000641190]\|not provided [RCV003480729]	uncertain significance	7	151574885	151574885	Human	1	name
8608551	CV54852	single nucleotide variant	NM_016203.4(PRKAG2):c.1106+9G>C	Cardiomyopathy [RCV001170699]\|Hypertrophic cardiomyopathy 6 [RCV001158334]\|Lethal congenital glycogen storage disease of heart [RCV000233993]\|Wolff-Parkinson-White pattern [RCV001158333]\|not provided [RCV001529811]\|not specified [RCV000038905]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	7	151570162	151570162	Human	5	name
8608553	CV54854	single nucleotide variant	NM_016203.4(PRKAG2):c.114+12C>T	Cardiovascular phenotype [RCV002453319]\|Hypertrophic cardiomyopathy 6 [RCV000356352]\|Hypertrophic cardiomyopathy [RCV003125868]\|Lethal congenital glycogen storage disease of heart [RCV002054722]\|Wolff-Parkinson-White pattern [RCV000262686]\|not provided [RCV000675712]\|not specified [RCV000038907]	benign\|likely benign	7	151876495	151876495	Human	5	name
8608563	CV54864	single nucleotide variant	NM_016203.4(PRKAG2):c.1584+7C>T	Cardiomyopathy [RCV000770258]\|Hypertrophic cardiomyopathy 6 [RCV001162964]\|Lethal congenital glycogen storage disease of heart [RCV000206339]\|Wolff-Parkinson-White pattern [RCV001165044]\|not provided [RCV001529655]\|not specified [RCV000038918]	benign\|likely benign\|uncertain significance	7	151564071	151564071	Human	5	name
8608564	CV54865	single nucleotide variant	NM_016203.4(PRKAG2):c.1585-4G>A	Cardiomyopathy [RCV000771890]\|Cardiovascular phenotype [RCV004017324]\|Lethal congenital glycogen storage disease of heart [RCV000473940]\|not provided [RCV001092778]\|not specified [RCV000038919]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	7	151560621	151560621	Human	3	name
13787078	CV549615	single nucleotide variant	NM_016203.4(PRKAG2):c.467-21T>C	not provided [RCV000675711]	benign	7	151675658	151675658	Human		name
14688090	CV619284	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-6A>G	Cardiomyopathy [RCV000774396]\|Lethal congenital glycogen storage disease of heart [RCV003768376]	uncertain significance	7	151570231	151570231	Human	3	name
14698438	CV624784	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-4A>G	Cardiomyopathy [RCV005401605]\|Lethal congenital glycogen storage disease of heart [RCV001445232]\|not provided [RCV000788238]	likely benign\|uncertain significance	7	151570229	151570229	Human	3	name
14711889	CV651674	single nucleotide variant	NM_016203.4(PRKAG2):c.1051+3A>G	Cardiomyopathy [RCV001183651]\|Cardiovascular phenotype [RCV003307544]\|Hypertrophic cardiomyopathy [RCV004001817]\|Lethal congenital glycogen storage disease of heart [RCV000819180]\|not provided [RCV001569388]	likely benign\|uncertain significance	7	151572661	151572661	Human	5	name
14725578	CV662858	single nucleotide variant	NM_016203.4(PRKAG2):c.187-79A>G	not provided [RCV000833501]	benign	7	151781510	151781510	Human		name
15132306	CV685213	single nucleotide variant	NM_016203.4(PRKAG2):c.1399+8T>C	Lethal congenital glycogen storage disease of heart [RCV002538931]\|not specified [RCV001193308]	likely benign\|uncertain significance	7	151565712	151565712	Human	1	name
15150599	CV689865	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-6G>A	Cardiomyopathy [RCV001170150]\|Lethal congenital glycogen storage disease of heart [RCV001504060]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151565891	151565891	Human	3	name
15130196	CV759641	single nucleotide variant	NM_016203.4(PRKAG2):c.186+10C>G	not provided [RCV000919965]	likely benign	7	151786460	151786460	Human		name
15108390	CV759772	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+9T>C	Lethal congenital glycogen storage disease of heart [RCV001467146]	likely benign	7	151568707	151568707	Human	1	name
15105337	CV775139	single nucleotide variant	NM_016203.4(PRKAG2):c.754+10C>T	Lethal congenital glycogen storage disease of heart [RCV001407841]	likely benign	7	151632059	151632059	Human	1	name
15140427	CV775369	single nucleotide variant	NM_016203.4(PRKAG2):c.1400-8A>G	Lethal congenital glycogen storage disease of heart [RCV000943716]	likely benign	7	151565391	151565391	Human	1	name
15153659	CV777638	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+8G>C	Lethal congenital glycogen storage disease of heart [RCV001434485]\|not provided [RCV000946127]	benign\|likely benign	7	151574883	151574883	Human	1	name
21069664	CV795992	single nucleotide variant	NM_016203.4(PRKAG2):c.1585-8C>T	not provided [RCV000998949]	likely benign	7	151560625	151560625	Human		name
34897165	CV915431	single nucleotide variant	NM_016203.4(PRKAG2):c.1585-3C>T	Cardiomyopathy [RCV001178936]\|Lethal congenital glycogen storage disease of heart [RCV005093807]	likely benign\|uncertain significance	7	151560620	151560620	Human	3	name
34899406	CV915433	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-6G>T	Cardiomyopathy [RCV001188297]	likely benign	7	151565891	151565891	Human	2	name
34889459	CV915435	single nucleotide variant	NM_016203.4(PRKAG2):c.1107-7C>T	Cardiomyopathy [RCV001181465]\|Hypertrophic cardiomyopathy [RCV004006740]\|Lethal congenital glycogen storage disease of heart [RCV001482718]	likely benign	7	151568849	151568849	Human	5	name
34892685	CV915437	duplication	NM_016203.4(PRKAG2):c.1006-9dup	Cardiomyopathy [RCV001175952]\|Lethal congenital glycogen storage disease of heart [RCV002067873]\|PRKAG2-related disorder [RCV004538400]	benign\|likely benign	7	151572717	151572718	Human	3	name , alternate_id
34894517	CV915895	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-9T>C	Cardiomyopathy [RCV001184670]\|Lethal congenital glycogen storage disease of heart [RCV005093900]	likely benign	7	151564233	151564233	Human	3	name
34894813	CV915897	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-9T>C	Cardiomyopathy [RCV001177631]	likely benign	7	151572718	151572718	Human	2	name
34894094	CV915901	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+5A>G	Cardiomyopathy [RCV001184373]\|Lethal congenital glycogen storage disease of heart [RCV003770045]	likely benign\|uncertain significance	7	151560519	151560519	Human	3	name
34899656	CV916180	single nucleotide variant	NM_016203.4(PRKAG2):c.1585-9T>A	Cardiomyopathy [RCV001188755]	likely benign	7	151560626	151560626	Human	2	name
34900489	CV916183	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-5T>A	Cardiomyopathy [RCV001190111]	uncertain significance	7	151572714	151572714	Human	2	name
34900261	CV916185	deletion	NM_016203.4(PRKAG2):c.865-14del	Cardiomyopathy [RCV001189771]\|Lethal congenital glycogen storage disease of heart [RCV003507363]	likely benign	7	151576466	151576466	Human	3	name
34894627	CV916187	single nucleotide variant	NM_016203.4(PRKAG2):c.865-15C>T	Cardiomyopathy [RCV001177472]	likely benign	7	151576467	151576467	Human	2	name
127326112	CV1160708	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-14C>T	Cardiomyopathy [RCV001525763]\|Lethal congenital glycogen storage disease of heart [RCV002070325]	likely benign	7	151557246	151557246	Human	3	name
150336418	CV1164969	single nucleotide variant	NM_016203.4(PRKAG2):c.946+371A>C	not provided [RCV001530836]	benign	7	151576000	151576000	Human		name
150332510	CV1169230	single nucleotide variant	NM_016203.4(PRKAG2):c.946+364C>T	not provided [RCV001536918]	benign	7	151576007	151576007	Human		name
150422484	CV1180307	single nucleotide variant	NM_016203.4(PRKAG2):c.685-121C>T	not provided [RCV001552704]	likely benign	7	151632259	151632259	Human		name
150420709	CV1180310	single nucleotide variant	NM_016203.4(PRKAG2):c.114+152C>G	not provided [RCV001551675]	likely benign	7	151876355	151876355	Human		name
150415238	CV1190638	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+86T>C	not provided [RCV001567895]\|not specified [RCV005405659]	benign\|likely benign	7	151560438	151560438	Human		name
150448879	CV1202368	single nucleotide variant	NM_016203.4(PRKAG2):c.947-293A>G	not provided [RCV001584965]	likely benign	7	151575242	151575242	Human		name
150506660	CV1226400	single nucleotide variant	NM_016203.4(PRKAG2):c.865-328G>T	not provided [RCV001635768]	benign	7	151576780	151576780	Human		name
150460110	CV1236197	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+88G>A	not provided [RCV001649168]	benign	7	151568628	151568628	Human		name
150478029	CV1240125	single nucleotide variant	NM_016203.4(PRKAG2):c.685-362C>T	not provided [RCV001652303]	benign	7	151632500	151632500	Human		name
150465778	CV1240298	single nucleotide variant	NM_016203.4(PRKAG2):c.946+330G>C	not provided [RCV001650059]	benign	7	151576041	151576041	Human		name
150506153	CV1242144	single nucleotide variant	NM_016203.4(PRKAG2):c.467-323C>T	not provided [RCV001658497]	benign	7	151675960	151675960	Human		name
150468709	CV1243038	single nucleotide variant	NM_016203.4(PRKAG2):c.865-315A>G	not provided [RCV001650556]	benign	7	151576767	151576767	Human		name
150484314	CV1245270	single nucleotide variant	NM_016203.4(PRKAG2):c.865-151A>G	not provided [RCV001653447]	benign	7	151576603	151576603	Human		name
150485297	CV1250199	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-86C>T	not provided [RCV001673812]	benign	7	151570311	151570311	Human		name
150476622	CV1251889	single nucleotide variant	NM_016203.4(PRKAG2):c.865-112G>C	not provided [RCV001672088]	benign	7	151576564	151576564	Human		name
150505577	CV1255509	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-95A>T	not provided [RCV001677956]	benign	7	151572804	151572804	Human		name
150471280	CV1259083	single nucleotide variant	NM_016203.4(PRKAG2):c.754+259C>T	not provided [RCV001684328]	benign	7	151631810	151631810	Human		name
150459693	CV1264054	single nucleotide variant	NM_016203.4(PRKAG2):c.946+336T>C	not provided [RCV001681969]	benign	7	151576035	151576035	Human		name
150488705	CV1265290	single nucleotide variant	NM_016203.4(PRKAG2):c.865-279G>C	not provided [RCV001687326]	benign	7	151576731	151576731	Human		name
150492330	CV1266632	single nucleotide variant	NM_016203.4(PRKAG2):c.865-110T>C	not provided [RCV001687954]	benign	7	151576562	151576562	Human		name
150468639	CV1267963	single nucleotide variant	NM_016203.4(PRKAG2):c.865-311T>C	not provided [RCV001694826]	benign	7	151576763	151576763	Human		name
150436011	CV1270895	single nucleotide variant	NM_016203.4(PRKAG2):c.865-293A>G	not provided [RCV001689445]	benign	7	151576745	151576745	Human		name
150473643	CV1272204	single nucleotide variant	NM_016203.4(PRKAG2):c.946+279G>A	not provided [RCV001695742]	benign	7	151576092	151576092	Human		name
150487818	CV1274311	duplication	NM_016203.4(PRKAG2):c.1106+10dup	Cardiomyopathy [RCV003150453]\|Lethal congenital glycogen storage disease of heart [RCV002073273]\|not provided [RCV001726628]\|not specified [RCV001699652]	benign\|likely benign	7	151570151	151570152	Human	3	name
150488484	CV1274535	deletion	NM_016203.4(PRKAG2):c.1106+19del	Lethal congenital glycogen storage disease of heart [RCV002077139]\|Lethal congenital glycogen storage disease of heart [RCV002503156]\|not specified [RCV001699866]	benign\|likely benign	7	151570152	151570152	Human	1	name
150482072	CV1279901	single nucleotide variant	NM_016203.4(PRKAG2):c.946+358C>T	not provided [RCV001714962]	benign	7	151576013	151576013	Human		name
150472698	CV1281266	single nucleotide variant	NM_016203.4(PRKAG2):c.186+111T>C	not provided [RCV001713410]	benign	7	151786359	151786359	Human		name
150496600	CV1283361	single nucleotide variant	NM_016203.4(PRKAG2):c.946+370A>T	not provided [RCV001717695]	benign	7	151576001	151576001	Human		name
150496605	CV1283362	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-15T>C	not provided [RCV001717696]	benign	7	151557247	151557247	Human		name
8692545	CV142514	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-17G>A	Lethal congenital glycogen storage disease of heart [RCV002055759]\|not specified [RCV000127616]	benign\|likely benign	7	151565902	151565902	Human	1	name
151712912	CV1441131	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-10A>G	Lethal congenital glycogen storage disease of heart [RCV001964645]	likely benign\|uncertain significance	7	151570235	151570235	Human	1	name
152136304	CV1528451	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-12C>A	Lethal congenital glycogen storage disease of heart [RCV002100163]	likely benign	7	151570237	151570237	Human	1	name
152033471	CV1542695	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+17T>C	Lethal congenital glycogen storage disease of heart [RCV002106577]	likely benign	7	151565329	151565329	Human	1	name
152160827	CV1555184	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+17G>A	Lethal congenital glycogen storage disease of heart [RCV002103761]	likely benign	7	151568699	151568699	Human	1	name
152150568	CV1559504	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+16C>T	Lethal congenital glycogen storage disease of heart [RCV002220747]	likely benign	7	151568700	151568700	Human	1	name
152163524	CV1561447	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+16C>G	Lethal congenital glycogen storage disease of heart [RCV002104244]	likely benign	7	151560508	151560508	Human	1	name
152096923	CV1566123	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+13A>G	Lethal congenital glycogen storage disease of heart [RCV002094968]	likely benign	7	151574878	151574878	Human	1	name
152093680	CV1598778	single nucleotide variant	NM_016203.4(PRKAG2):c.1107-18T>C	Lethal congenital glycogen storage disease of heart [RCV002172170]	likely benign	7	151568860	151568860	Human	1	name
152172163	CV1599008	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-10C>T	Lethal congenital glycogen storage disease of heart [RCV002143684]	likely benign	7	151557242	151557242	Human	1	name
152114726	CV1600244	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+15G>A	Lethal congenital glycogen storage disease of heart [RCV002097319]	likely benign	7	151568701	151568701	Human	1	name
152156792	CV1629769	single nucleotide variant	NM_016203.4(PRKAG2):c.1399+15C>T	Lethal congenital glycogen storage disease of heart [RCV002202757]	likely benign	7	151565705	151565705	Human	1	name
152170698	CV1651259	single nucleotide variant	NM_016203.4(PRKAG2):c.1584+17A>G	Lethal congenital glycogen storage disease of heart [RCV002143201]	likely benign	7	151564061	151564061	Human	1	name
152056921	CV1656466	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-20A>G	Lethal congenital glycogen storage disease of heart [RCV002109657]	likely benign	7	151564244	151564244	Human	1	name
152085017	CV1663150	single nucleotide variant	NM_016203.4(PRKAG2):c.1051+20T>C	Hypertrophic cardiomyopathy [RCV003126169]\|Lethal congenital glycogen storage disease of heart [RCV002171050]	likely benign	7	151572644	151572644	Human	3	name
156378220	CV1876647	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-13A>G	Lethal congenital glycogen storage disease of heart [RCV003066927]	likely benign	7	151565898	151565898	Human	1	name
156116979	CV1877385	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+20A>G	Lethal congenital glycogen storage disease of heart [RCV003081277]	likely benign	7	151574871	151574871	Human	1	name
156377491	CV1878866	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+14A>G	Lethal congenital glycogen storage disease of heart [RCV003066864]	likely benign	7	151568702	151568702	Human	1	name
156349315	CV1889734	single nucleotide variant	NM_016203.4(PRKAG2):c.1051+11T>A	Lethal congenital glycogen storage disease of heart [RCV003090841]	likely benign	7	151572653	151572653	Human	1	name
156094490	CV1910005	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+13A>T	Lethal congenital glycogen storage disease of heart [RCV002592033]	likely benign	7	151574878	151574878	Human	1	name
156016702	CV1912872	single nucleotide variant	NM_016203.4(PRKAG2):c.1400-17A>G	Lethal congenital glycogen storage disease of heart [RCV002619181]	likely benign	7	151565400	151565400	Human	1	name
156256585	CV1977360	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-12A>G	Lethal congenital glycogen storage disease of heart [RCV002597642]	likely benign	7	151557244	151557244	Human	1	name
156090433	CV1984026	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-17C>A	Lethal congenital glycogen storage disease of heart [RCV002621840]	likely benign	7	151564241	151564241	Human	1	name
156048616	CV2093407	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-18T>C	Lethal congenital glycogen storage disease of heart [RCV002867708]	likely benign	7	151564242	151564242	Human	1	name
155992792	CV2112672	deletion	NM_016203.4(PRKAG2):c.1107-12del	Hypertrophic cardiomyopathy [RCV004007698]\|Lethal congenital glycogen storage disease of heart [RCV002947409]	likely benign\|uncertain significance	7	151568854	151568854	Human	3	name
11350472	CV240009	single nucleotide variant	NM_016203.4(PRKAG2):c.1051+10A>G	Lethal congenital glycogen storage disease of heart [RCV001488325]\|not specified [RCV005404425]	likely benign	7	151572654	151572654	Human	1	name
11544981	CV252649	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-42C>T	not provided [RCV001683081]\|not specified [RCV000244519]	benign	7	151570267	151570267	Human		name
11552419	CV252650	single nucleotide variant	NM_016203.4(PRKAG2):c.1051+36C>T	not specified [RCV000254352]	benign	7	151572628	151572628	Human		name
402490495	CV2854226	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-12C>T	Lethal congenital glycogen storage disease of heart [RCV003507579]	likely benign	7	151570237	151570237	Human	1	name
402490932	CV2855277	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+18G>A	Lethal congenital glycogen storage disease of heart [RCV003507647]	likely benign	7	151560506	151560506	Human	1	name
402497573	CV2869851	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+18G>T	Lethal congenital glycogen storage disease of heart [RCV003508379]	likely benign	7	151560506	151560506	Human	1	name
402501519	CV2884026	single nucleotide variant	NM_016203.4(PRKAG2):c.1400-18T>C	Lethal congenital glycogen storage disease of heart [RCV003508779]	likely benign	7	151565401	151565401	Human	1	name
402501075	CV2890162	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+17G>T	Lethal congenital glycogen storage disease of heart [RCV003508751]	likely benign	7	151568699	151568699	Human	1	name
402487050	CV2917107	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+11T>G	Lethal congenital glycogen storage disease of heart [RCV003507103]	likely benign	7	151565335	151565335	Human	1	name
405065730	CV2934896	single nucleotide variant	NM_016203.4(PRKAG2):c.1107-11T>C	Cardiomyopathy [RCV003532802]\|Lethal congenital glycogen storage disease of heart [RCV005063065]	likely benign	7	151568853	151568853	Human	3	name
405126864	CV3043896	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+11G>T	Lethal congenital glycogen storage disease of heart [RCV003617774]	likely benign	7	151560513	151560513	Human	1	name
405136081	CV3055072	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-18C>T	Lethal congenital glycogen storage disease of heart [RCV003618832]	likely benign	7	151565903	151565903	Human	1	name
405137301	CV3064889	single nucleotide variant	NM_016203.4(PRKAG2):c.1106+14T>A	Lethal congenital glycogen storage disease of heart [RCV003618945]	likely benign	7	151570157	151570157	Human	1	name
405137968	CV3069781	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-19A>G	Lethal congenital glycogen storage disease of heart [RCV003618987]	likely benign	7	151572728	151572728	Human	1	name
405138937	CV3072062	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+12C>A	Lethal congenital glycogen storage disease of heart [RCV003619108]	likely benign	7	151574879	151574879	Human	1	name
405138382	CV3079305	single nucleotide variant	NM_016203.4(PRKAG2):c.1399+18T>A	Lethal congenital glycogen storage disease of heart [RCV003619052]	likely benign	7	151565702	151565702	Human	1	name
404981284	CV3121131	single nucleotide variant	NM_016203.4(PRKAG2):c.1051+14G>T	Lethal congenital glycogen storage disease of heart [RCV003826123]	likely benign	7	151572650	151572650	Human	1	name
405217802	CV3160876	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+13A>C	Lethal congenital glycogen storage disease of heart [RCV003862938]	likely benign	7	151574878	151574878	Human	1	name
402471210	CV3171512	single nucleotide variant	NM_016203.4(PRKAG2):c.1107-17A>G	Lethal congenital glycogen storage disease of heart [RCV003874296]	likely benign	7	151568859	151568859	Human	1	name
402505724	CV3181590	single nucleotide variant	NM_016203.4(PRKAG2):c.1051+17G>A	Lethal congenital glycogen storage disease of heart [RCV003878424]	likely benign	7	151572647	151572647	Human	1	name
405715670	CV3232362	single nucleotide variant	NM_016203.4(PRKAG2):c.1585-15C>T	Hypertrophic cardiomyopathy [RCV004012215]	likely benign	7	151560632	151560632	Human	2	name
596924406	CV3529783	deletion	NM_016203.3(PRKAG2):c.690_701del	not provided [RCV004780833]	uncertain significance	7	151632122	151632133	Human		name
596943490	CV3546657	single nucleotide variant	NM_016203.4(PRKAG2):c.1400-15A>G	Hypertrophic cardiomyopathy [RCV004807782]	likely benign	7	151565398	151565398	Human	2	name
596943371	CV3546664	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-11T>C	Cardiomyopathy [RCV005402218]\|Hypertrophic cardiomyopathy [RCV004807789]\|Lethal congenital glycogen storage disease of heart [RCV005061465]	likely benign	7	151570236	151570236	Human	5	name
12837227	CV369354	single nucleotide variant	NM_016203.4(PRKAG2):c.1585-19C>G	Lethal congenital glycogen storage disease of heart [RCV002522569]\|not specified [RCV000424804]	likely benign	7	151560636	151560636	Human	1	name
12839580	CV369355	single nucleotide variant	NM_016203.4(PRKAG2):c.1584+19T>C	Lethal congenital glycogen storage disease of heart [RCV005055972]\|not specified [RCV000429073]	likely benign	7	151564059	151564059	Human	1	name
597854239	CV3778222	single nucleotide variant	NM_016203.4(PRKAG2):c.1106+20C>A	Lethal congenital glycogen storage disease of heart [RCV005128761]	likely benign	7	151570151	151570151	Human	1	name
597853011	CV3780974	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-16C>T	Lethal congenital glycogen storage disease of heart [RCV005127873]	likely benign	7	151570241	151570241	Human	1	name
597862896	CV3796145	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+11T>C	Lethal congenital glycogen storage disease of heart [RCV005136962]	likely benign	7	151568705	151568705	Human	1	name
597881500	CV3816007	single nucleotide variant	NM_016203.4(PRKAG2):c.1399+16G>A	Lethal congenital glycogen storage disease of heart [RCV005156588]	likely benign	7	151565704	151565704	Human	1	name
597906843	CV3846201	single nucleotide variant	NM_016203.4(PRKAG2):c.1233+13T>A	Lethal congenital glycogen storage disease of heart [RCV005181824]	likely benign	7	151568703	151568703	Human	1	name
597912936	CV3847158	single nucleotide variant	NM_016203.4(PRKAG2):c.1399+17C>T	Lethal congenital glycogen storage disease of heart [RCV005188078]	likely benign	7	151565703	151565703	Human	1	name
616934650	CV4009779	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-13T>G	Cardiomyopathy [RCV005400937]	likely benign	7	151572722	151572722	Human	2	name
616935605	CV4010194	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-15T>G	Cardiomyopathy [RCV005403495]	likely benign	7	151572724	151572724	Human	2	name
616936124	CV4010615	single nucleotide variant	NM_016203.4(PRKAG2):c.754+392T>C	not specified [RCV005403961]	likely benign	7	151631677	151631677	Human		name
616937354	CV4011003	single nucleotide variant	NM_016203.4(PRKAG2):c.754+304G>A	not specified [RCV005404847]	likely benign	7	151631765	151631765	Human		name
8603025	CV45356	single nucleotide variant	NM_016203.4(PRKAG2):c.1106+15T>G	Primary familial hypertrophic cardiomyopathy [RCV000030374]	uncertain significance	7	151570156	151570156	Human	1	name
13535753	CV501668	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-19A>G	Lethal congenital glycogen storage disease of heart [RCV002063142]\|not provided [RCV001724078]\|not specified [RCV000602565]	likely benign	7	151557251	151557251	Human	1	name
13535981	CV501671	single nucleotide variant	NM_016203.4(PRKAG2):c.1106+17T>C	Lethal congenital glycogen storage disease of heart [RCV002529605]\|not specified [RCV000608343]	likely benign	7	151570154	151570154	Human	1	name
13539265	CV501991	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-19A>T	Lethal congenital glycogen storage disease of heart [RCV002066806]\|not specified [RCV000613046]	benign\|likely benign	7	151557251	151557251	Human	1	name
13539451	CV502306	single nucleotide variant	NM_016203.4(PRKAG2):c.1107-14G>C	Cardiomyopathy [RCV001191386]\|Lethal congenital glycogen storage disease of heart [RCV002063053]\|not specified [RCV000613300]	likely benign	7	151568856	151568856	Human	3	name
13535856	CV502307	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+11C>T	Lethal congenital glycogen storage disease of heart [RCV002529602]\|not specified [RCV000608153]	likely benign	7	151574880	151574880	Human	1	name
13610407	CV523150	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+10T>C	Lethal congenital glycogen storage disease of heart [RCV000641198]\|PRKAG2-related disorder [RCV004533351]	likely benign	7	151560514	151560514	Human	1	name , alternate_id
14707780	CV662314	single nucleotide variant	NM_016203.4(PRKAG2):c.1584+20C>G	not provided [RCV000826944]	likely benign	7	151564058	151564058	Human		name
14719266	CV662315	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+47A>G	not provided [RCV000830699]	likely benign	7	151565299	151565299	Human		name
14722615	CV662320	single nucleotide variant	NM_016203.4(PRKAG2):c.186+109T>C	not provided [RCV000832179]	benign	7	151786361	151786361	Human		name
14745921	CV662322	single nucleotide variant	NM_016203.4(PRKAG2):c.115-269G>C	not provided [RCV000843891]	benign	7	151786810	151786810	Human		name
14745922	CV662798	single nucleotide variant	NM_016203.4(PRKAG2):c.187-292G>A	not provided [RCV000843892]	benign	7	151781723	151781723	Human		name
14721623	CV662900	single nucleotide variant	NM_016203.4(PRKAG2):c.947-226T>C	not provided [RCV000831751]	benign	7	151575175	151575175	Human		name
14739168	CV662901	single nucleotide variant	NM_016203.4(PRKAG2):c.186+241G>A	not provided [RCV000839751]	likely benign	7	151786229	151786229	Human		name
127298155	CV1155626	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-317T>G	Lethal congenital glycogen storage disease of heart [RCV001513156]	benign	7	151566202	151566202	Human	1	name
150340369	CV1168113	single nucleotide variant	NM_016203.4(PRKAG2):c.1005+301C>T	not provided [RCV001535291]	likely benign	7	151574590	151574590	Human		name
150410768	CV1190639	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-244C>T	not provided [RCV001566224]	likely benign	7	151570469	151570469	Human		name
150409116	CV1190640	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-280A>C	not provided [RCV001565554]	likely benign	7	151572989	151572989	Human		name
150413648	CV1197660	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+277A>C	not provided [RCV001574687]	likely benign	7	151560247	151560247	Human		name
150457513	CV1202630	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+292C>T	not provided [RCV001586283]	likely benign	7	151565054	151565054	Human		name
150514297	CV1213413	single nucleotide variant	NM_016203.4(PRKAG2):c.1437+127T>G	not provided [RCV001599004]	benign	7	151565219	151565219	Human		name
150508596	CV1229684	single nucleotide variant	NM_016203.4(PRKAG2):c.114+1716C>T	not provided [RCV001636262]	benign	7	151874791	151874791	Human		name
150501890	CV1241067	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-140A>G	not provided [RCV001656963]	benign	7	151564364	151564364	Human		name
150466534	CV1255755	single nucleotide variant	NM_016203.4(PRKAG2):c.1438-180T>A	not provided [RCV001670389]	benign	7	151564404	151564404	Human		name
150481626	CV1279794	single nucleotide variant	NM_016203.4(PRKAG2):c.1584+124G>A	not provided [RCV001714881]	benign	7	151563954	151563954	Human		name
152103555	CV1667471	single nucleotide variant	NM_016203.4(PRKAG2):c.1678+121T>A	not provided [RCV002214459]\|not specified [RCV005405870]	benign\|likely benign	7	151560403	151560403	Human		name
616936758	CV4010728	single nucleotide variant	NM_016203.4(PRKAG2):c.115-4066G>T	not specified [RCV005404075]	likely benign	7	151790607	151790607	Human		name
616937059	CV4011168	single nucleotide variant	NM_016203.4(PRKAG2):c.115-4039G>A	not specified [RCV005405014]	likely benign	7	151790580	151790580	Human		name
616937060	CV4011169	single nucleotide variant	NM_016203.4(PRKAG2):c.1234-711A>T	not specified [RCV005405015]	benign	7	151566596	151566596	Human		name
14709117	CV662300	duplication	NM_016203.4(PRKAG2):c.1679-246dup	not provided [RCV000833732]	likely benign	7	151557469	151557470	Human		name
14726010	CV662316	single nucleotide variant	NM_016203.4(PRKAG2):c.1399+130A>G	not provided [RCV000833685]	likely benign	7	151565590	151565590	Human		name
14709801	CV662318	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-228T>G	not provided [RCV000827522]	benign	7	151572937	151572937	Human		name
14745840	CV662787	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-258A>G	not provided [RCV000843803]	benign	7	151557490	151557490	Human		name
14711219	CV662789	single nucleotide variant	NM_016203.4(PRKAG2):c.1052-264C>A	not provided [RCV000827966]	benign	7	151570489	151570489	Human		name
14725782	CV662795	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-168A>G	not provided [RCV000833587]	benign	7	151572877	151572877	Human		name
14725779	CV662797	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-201A>G	not provided [RCV000833586]	benign	7	151572910	151572910	Human		name
14728083	CV662893	single nucleotide variant	NM_016203.4(PRKAG2):c.1679-125C>T	not provided [RCV000834620]	benign	7	151557357	151557357	Human		name
14726409	CV662896	single nucleotide variant	NM_016203.4(PRKAG2):c.1006-121G>A	not provided [RCV000833859]	benign	7	151572830	151572830	Human		name
127292009	CV1155627	single nucleotide variant	NM_016203.4(PRKAG2):c.467-12630G>T	Lethal congenital glycogen storage disease of heart [RCV001510670]	benign	7	151688267	151688267	Human	1	name
150514068	CV1210843	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45369A>G	not provided [RCV001598884]	benign	7	151735783	151735783	Human		name
150447294	CV1216096	single nucleotide variant	NM_016203.4(PRKAG2):c.467-35078C>T	not provided [RCV001611394]	benign	7	151710715	151710715	Human	15	name
150516321	CV1216806	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28206C>T	not provided [RCV001608708]	benign	7	151814747	151814747	Human		name
150473730	CV1217679	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28270A>G	not provided [RCV001615690]	benign	7	151814811	151814811	Human		name
150506632	CV1226393	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28207C>A	not provided [RCV001635761]	benign	7	151814748	151814748	Human		name
150501383	CV1238382	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28208A>G	not provided [RCV001656812]	benign	7	151814749	151814749	Human		name
150490501	CV1239128	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28163C>T	not provided [RCV001654696]	benign	7	151814704	151814704	Human		name
150466831	CV1240476	single nucleotide variant	NM_016203.4(PRKAG2):c.115-27755G>C	not provided [RCV001650237]	benign	7	151814296	151814296	Human		name
150483532	CV1247636	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45452A>G	not provided [RCV001673462]	benign	7	151735700	151735700	Human		name
150446448	CV1250667	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28144G>A	not provided [RCV001667172]	benign	7	151814685	151814685	Human		name
150489784	CV1250918	single nucleotide variant	NM_016203.4(PRKAG2):c.115-27861C>A	not provided [RCV001674585]	benign	7	151814402	151814402	Human		name
150472203	CV1252206	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28336G>T	not provided [RCV001671407]	benign	7	151814877	151814877	Human		name
150501336	CV1256275	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28011G>A	not provided [RCV001676899]	benign	7	151814552	151814552	Human		name
150478830	CV1258156	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28016C>A	not provided [RCV001685571]	benign	7	151814557	151814557	Human		name
150439790	CV1266823	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28203T>G	not provided [RCV001690258]	benign	7	151814744	151814744	Human		name
150491440	CV1274154	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45251C>T	not provided [RCV001701225]	likely benign	7	151735901	151735901	Human		name
150490719	CV1279919	single nucleotide variant	NM_016203.4(PRKAG2):c.115-28267G>A	not provided [RCV001716522]	benign	7	151814808	151814808	Human		name
152059051	CV1558994	single nucleotide variant	NM_016203.4(PRKAG2):c.114+13034A>G	Lethal congenital glycogen storage disease of heart [RCV002167781]	benign	7	151863473	151863473	Human	1	name
152057821	CV1670641	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45211G>A	not provided [RCV002226161]	likely benign	7	151735941	151735941	Human		name
155956883	CV1903559	microsatellite	NM_016203.4(PRKAG2):c.685-19TCC[3]	Lethal congenital glycogen storage disease of heart [RCV003095634]	likely benign	7	151632146	151632148	Human		name
401912090	CV2796053	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45217C>T	PRKAG2-related disorder [RCV004529713]	uncertain significance	7	151735935	151735935	Human		name , trait , alternate_id
401923928	CV2823361	single nucleotide variant	NM_016203.4(PRKAG2):c.115-21063C>T	not provided [RCV003435312]	benign	7	151807604	151807604	Human		name
405129290	CV2942707	single nucleotide variant	NM_016203.4(PRKAG2):c.114+13034A>T	Lethal congenital glycogen storage disease of heart [RCV003618102]	likely benign	7	151863473	151863473	Human	1	name
405124790	CV3014132	microsatellite	NM_016203.4(PRKAG2):c.1107-10TC[4]	Lethal congenital glycogen storage disease of heart [RCV003617511]	likely benign	7	151568848	151568849	Human		name
405050736	CV3081588	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45239T>G	not provided [RCV003740572]	likely benign	7	151735913	151735913	Human		name
405267688	CV3198475	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45241A>C	PRKAG2-related disorder [RCV004536936]	likely benign	7	151735911	151735911	Human		name , trait , alternate_id
405274284	CV3211689	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45150C>T	PRKAG2-related disorder [RCV004542357]\|not specified [RCV005406083]	benign\|likely benign	7	151736002	151736002	Human		name , alternate_id
596920581	CV3534055	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45140C>T	not specified [RCV004783273]	uncertain significance	7	151736012	151736012	Human		name
12840216	CV369071	single nucleotide variant	NM_016203.4(PRKAG2):c.115-27881G>A	not specified [RCV000430264]	likely benign	7	151814422	151814422	Human		name
597649124	CV3703387	single nucleotide variant	NM_016203.4(PRKAG2):c.466+45171G>T	Hypertrophic cardiomyopathy 6 [RCV005000616]	likely pathogenic	7	151735981	151735981	Human	1	name
34901595	CV916194	microsatellite	NM_016203.4(PRKAG2):c.685-19TCC[5]	Cardiomyopathy [RCV001191973]\|Lethal congenital glycogen storage disease of heart [RCV003507367]	likely benign	7	151632145	151632146	Human		name
151783556	CV1350197	duplication	NM_016203.4(PRKAG2):c.1051_1051+2dup	Lethal congenital glycogen storage disease of heart [RCV001989354]\|not provided [RCV003332370]	uncertain significance	7	151572661	151572662	Human	1	name
155681630	CV1817264	microsatellite	NM_016203.4(PRKAG2):c.864+3_864+6del	Cardiovascular phenotype [RCV002371197]	uncertain significance	7	151595339	151595342	Human		name
155951591	CV2076418	single nucleotide variant	NM_016203.4(PRKAG2):c.9C>T (p.Ser3=)	Hypertrophic cardiomyopathy [RCV004808376]\|Lethal congenital glycogen storage disease of heart [RCV002862376]	likely benign	7	151876612	151876612	Human	3	name
405731038	CV3229095	duplication	NM_016203.4(PRKAG2):c.1051_1051+1dup	Hypertrophic cardiomyopathy [RCV004013845]	uncertain significance	7	151572662	151572663	Human	2	name
155686546	CV1852627	single nucleotide variant	NM_016203.4(PRKAG2):c.27G>A (p.Lys9=)	Cardiovascular phenotype [RCV002441566]\|Lethal congenital glycogen storage disease of heart [RCV003102239]	likely benign	7	151876594	151876594	Human	1	name
156260902	CV2033968	single nucleotide variant	NM_016203.4(PRKAG2):c.24C>A (p.Thr8=)	Lethal congenital glycogen storage disease of heart [RCV002746305]	likely benign	7	151876597	151876597	Human	1	name
38475282	CV940874	duplication	NM_016203.4(PRKAG2):c.947-22_947-6dup	Hypertrophic cardiomyopathy [RCV004010701]\|Lethal congenital glycogen storage disease of heart [RCV001215107]	uncertain significance	7	151574954	151574955	Human	3	name
127255530	CV1074574	single nucleotide variant	NM_016203.4(PRKAG2):c.87G>A (p.Lys29=)	Hypertrophic cardiomyopathy [RCV004006950]\|Lethal congenital glycogen storage disease of heart [RCV001418778]	likely benign	7	151876534	151876534	Human	3	name
152086620	CV1573929	deletion	NM_016203.4(PRKAG2):c.754+19_754+24del	Lethal congenital glycogen storage disease of heart [RCV002150017]	likely benign	7	151632045	151632050	Human	1	name
9833372	CV179138	single nucleotide variant	NM_016203.4(PRKAG2):c.66C>T (p.Gly22=)	Cardiomyopathy [RCV001526094]\|Hypertrophic cardiomyopathy [RCV003998378]\|Lethal congenital glycogen storage disease of heart [RCV001857572]\|not provided [RCV000158994]	likely benign\|uncertain significance	7	151876555	151876555	Human	5	name
155740584	CV1809483	single nucleotide variant	NM_016203.4(PRKAG2):c.4G>A (p.Gly2Arg)	Cardiovascular phenotype [RCV002343053]\|Lethal congenital glycogen storage disease of heart [RCV005096713]	uncertain significance	7	151876617	151876617	Human	1	name
155731120	CV1825898	single nucleotide variant	NM_016203.4(PRKAG2):c.99G>T (p.Leu33=)	Cardiovascular phenotype [RCV002383115]	likely benign	7	151876522	151876522	Human		name
156008304	CV1870604	single nucleotide variant	NM_016203.4(PRKAG2):c.8G>A (p.Ser3Asn)	Cardiovascular phenotype [RCV004654118]\|Lethal congenital glycogen storage disease of heart [RCV003076939]	uncertain significance	7	151876613	151876613	Human	1	name
156381520	CV1873691	single nucleotide variant	NM_016203.4(PRKAG2):c.51C>T (p.Pro17=)	Lethal congenital glycogen storage disease of heart [RCV003067209]	likely benign	7	151876570	151876570	Human	1	name
156407265	CV1918051	deletion	NM_016203.4(PRKAG2):c.947-19_947-18del	Lethal congenital glycogen storage disease of heart [RCV002606842]	uncertain significance	7	151574967	151574968	Human	1	name
156247255	CV2174351	single nucleotide variant	NM_016203.4(PRKAG2):c.1A>G (p.Met1Val)	Lethal congenital glycogen storage disease of heart [RCV003043660]	uncertain significance	7	151876620	151876620	Human	1	name
11548623	CV258470	single nucleotide variant	NM_016203.4(PRKAG2):c.66C>G (p.Gly22=)	Cardiomyopathy [RCV001804985]\|Cardiovascular phenotype [RCV000249324]\|Hypertrophic cardiomyopathy [RCV003999003]\|Lethal congenital glycogen storage disease of heart [RCV002058493]\|not provided [RCV001668618]\|not specified [RCV001256864]	benign\|likely benign	7	151876555	151876555	Human	5	name
402492284	CV2922064	duplication	NM_016203.4(PRKAG2):c.685-20_685-18dup	Lethal congenital glycogen storage disease of heart [RCV003507767]	likely benign	7	151632155	151632156	Human	1	name
405123055	CV2996645	deletion	NM_016203.4(PRKAG2):c.467-41_467-18del	Lethal congenital glycogen storage disease of heart [RCV003617306]	likely benign	7	151675655	151675678	Human	1	name
405727956	CV3230944	single nucleotide variant	NM_016203.4(PRKAG2):c.78C>T (p.Ala26=)	Hypertrophic cardiomyopathy [RCV004013525]	likely benign	7	151876543	151876543	Human	2	name
405752193	CV3234331	single nucleotide variant	NM_016203.4(PRKAG2):c.63C>T (p.Gly21=)	Hypertrophic cardiomyopathy [RCV004016381]	likely benign	7	151876558	151876558	Human	2	name
405752395	CV3234357	single nucleotide variant	NM_016203.4(PRKAG2):c.66C>A (p.Gly22=)	Hypertrophic cardiomyopathy [RCV004016407]\|Lethal congenital glycogen storage disease of heart [RCV005103311]	likely benign	7	151876555	151876555	Human	3	name
597706456	CV3581471	single nucleotide variant	NM_016203.4(PRKAG2):c.2T>A (p.Met1Lys)	Cardiovascular phenotype [RCV004989424]	uncertain significance	7	151876619	151876619	Human		name
597706526	CV3581485	single nucleotide variant	NM_016203.4(PRKAG2):c.54C>A (p.Gly18=)	Cardiovascular phenotype [RCV004989438]	likely benign	7	151876567	151876567	Human		name
597875034	CV3799539	deletion	NM_016203.4(PRKAG2):c.684+10_684+19del	Lethal congenital glycogen storage disease of heart [RCV005150206]	likely benign	7	151675401	151675410	Human	1	name
597886429	CV3818864	deletion	NM_016203.4(PRKAG2):c.754+15_754+45del	Lethal congenital glycogen storage disease of heart [RCV005160934]	uncertain significance	7	151632024	151632054	Human	1	name
13484056	CV457592	single nucleotide variant	NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)	Cardiomyopathy [RCV001182239]\|Cardiovascular phenotype [RCV002377084]\|Hypertrophic cardiomyopathy 6 [RCV001165269]\|Hypertrophic cardiomyopathy [RCV003999160]\|Lethal congenital glycogen storage disease of heart [RCV000530157]\|PRKAG2-related disorder [RCV004735602 ... (more) ]\|Wolff-Parkinson-White pattern [RCV001165270]	likely benign\|uncertain significance	7	151876533	151876533	Human	7	name , alternate_id
8608583	CV54884	single nucleotide variant	NM_016203.4(PRKAG2):c.42T>A (p.Val14=)	Cardiomyopathy [RCV000777974]\|Cardiovascular phenotype [RCV004649065]\|Hypertrophic cardiomyopathy [RCV003996421]\|Lethal congenital glycogen storage disease of heart [RCV002054723]\|not provided [RCV001785466]\|not specified [RCV000038941]	likely benign\|uncertain significance	7	151876579	151876579	Human	5	name
15128324	CV766187	single nucleotide variant	NM_016203.4(PRKAG2):c.99G>A (p.Leu33=)	Hypertrophic cardiomyopathy [RCV004004314]\|Lethal congenital glycogen storage disease of heart [RCV002544580]	likely benign	7	151876522	151876522	Human	3	name
34892916	CV910900	single nucleotide variant	NM_016203.4(PRKAG2):c.84G>A (p.Gln28=)	Cardiomyopathy [RCV001183431]	likely benign	7	151876537	151876537	Human	2	name
34888727	CV910901	single nucleotide variant	NM_016203.4(PRKAG2):c.60C>T (p.Ser20=)	Cardiomyopathy [RCV001180934]\|Cardiovascular phenotype [RCV004649475]	likely benign	7	151876561	151876561	Human	2	name
127283517	CV1096190	single nucleotide variant	NM_016203.4(PRKAG2):c.156G>A (p.Leu52=)	Lethal congenital glycogen storage disease of heart [RCV001448576]	likely benign	7	151786500	151786500	Human	1	name
127237796	CV1096191	single nucleotide variant	NM_016203.4(PRKAG2):c.117C>T (p.Asp39=)	Hypertrophic cardiomyopathy [RCV004006992]\|Lethal congenital glycogen storage disease of heart [RCV001433625]	likely benign	7	151786539	151786539	Human	3	name
150463115	CV1206685	duplication	NM_016203.4(PRKAG2):c.467-113_467-76dup	not provided [RCV001587086]	likely benign	7	151675712	151675713	Human		name
150511366	CV1229441	single nucleotide variant	NM_016203.4(PRKAG2):c.138G>T (p.Pro46=)	Cardiovascular phenotype [RCV004988700]\|not provided [RCV001637370]	benign\|likely benign	7	151786518	151786518	Human		name
150549266	CV1294784	single nucleotide variant	NM_016203.4(PRKAG2):c.26A>G (p.Lys9Arg)	Cardiovascular phenotype [RCV002440849]\|not provided [RCV001752276]	uncertain significance	7	151876595	151876595	Human		name
151819290	CV1385835	single nucleotide variant	NM_016203.4(PRKAG2):c.11C>T (p.Ala4Val)	Hypertrophic cardiomyopathy [RCV004011104]\|Lethal congenital glycogen storage disease of heart [RCV002013212]	uncertain significance	7	151876610	151876610	Human	3	name
152037096	CV1524829	single nucleotide variant	NM_016203.4(PRKAG2):c.111T>C (p.Ile37=)	Lethal congenital glycogen storage disease of heart [RCV002165130]	likely benign	7	151876510	151876510	Human	1	name
152069430	CV1526497	single nucleotide variant	NM_016203.4(PRKAG2):c.240C>G (p.Gly80=)	Hypertrophic cardiomyopathy [RCV004808213]\|Lethal congenital glycogen storage disease of heart [RCV002074896]	likely benign	7	151781378	151781378	Human	3	name
152029663	CV1568597	single nucleotide variant	NM_016203.4(PRKAG2):c.252G>C (p.Arg84=)	Lethal congenital glycogen storage disease of heart [RCV002186238]	likely benign	7	151781366	151781366	Human	1	name
152106622	CV1577667	single nucleotide variant	NM_016203.4(PRKAG2):c.261C>T (p.Ser87=)	Lethal congenital glycogen storage disease of heart [RCV002096259]	likely benign	7	151781357	151781357	Human	1	name
152170808	CV1592590	single nucleotide variant	NM_016203.4(PRKAG2):c.210C>A (p.Gly70=)	Lethal congenital glycogen storage disease of heart [RCV002161893]	likely benign	7	151781408	151781408	Human	1	name
9833392	CV179139	deletion	NM_016203.4(PRKAG2):c.62del (p.Gly21fs)	not provided [RCV000159029]	uncertain significance	7	151876559	151876559	Human		name
155732698	CV1834080	single nucleotide variant	NM_016203.4(PRKAG2):c.162T>C (p.Gly54=)	Cardiovascular phenotype [RCV002401264]\|Lethal congenital glycogen storage disease of heart [RCV003097037]	likely benign	7	151786494	151786494	Human	1	name
155714405	CV1834713	single nucleotide variant	NM_016203.4(PRKAG2):c.105G>T (p.Val35=)	Cardiovascular phenotype [RCV002404106]\|Lethal congenital glycogen storage disease of heart [RCV003774496]	likely benign	7	151876516	151876516	Human	1	name
155700484	CV1836751	single nucleotide variant	NM_016203.4(PRKAG2):c.144G>A (p.Leu48=)	Cardiovascular phenotype [RCV002394564]	likely benign	7	151786512	151786512	Human		name
155692168	CV1845618	single nucleotide variant	NM_016203.4(PRKAG2):c.258C>T (p.Ser86=)	Cardiovascular phenotype [RCV002426131]	likely benign	7	151781360	151781360	Human		name
156032304	CV1889857	single nucleotide variant	NM_016203.4(PRKAG2):c.154C>T (p.Leu52=)	Lethal congenital glycogen storage disease of heart [RCV003078159]	likely benign	7	151786502	151786502	Human	1	name
156267283	CV2011292	single nucleotide variant	NM_016203.4(PRKAG2):c.192C>T (p.Asp64=)	Lethal congenital glycogen storage disease of heart [RCV002714860]	likely benign	7	151781426	151781426	Human	1	name
156260406	CV2057114	single nucleotide variant	NM_016203.4(PRKAG2):c.249C>T (p.Pro83=)	Cardiomyopathy [RCV005403233]\|Lethal congenital glycogen storage disease of heart [RCV002791997]	likely benign	7	151781369	151781369	Human	3	name
156309486	CV2082113	duplication	NM_016203.4(PRKAG2):c.1006-13_1006-9dup	Lethal congenital glycogen storage disease of heart [RCV002898631]	likely benign	7	151572717	151572718	Human	1	name
155904867	CV2084107	single nucleotide variant	NM_016203.4(PRKAG2):c.291C>A (p.Thr97=)	Lethal congenital glycogen storage disease of heart [RCV002858090]	likely benign	7	151781327	151781327	Human	1	name
156354415	CV2188594	deletion	NM_016203.4(PRKAG2):c.53del (p.Gly18fs)	Lethal congenital glycogen storage disease of heart [RCV003048580]	uncertain significance	7	151876568	151876568	Human	1	name
243055809	CV2416536	single nucleotide variant	NM_016203.4(PRKAG2):c.255C>T (p.Pro85=)	Cardiomyopathy [RCV003150619]	likely benign	7	151781363	151781363	Human	2	name
11545499	CV252652	insertion	NM_016203.4(PRKAG2):c.864+35_864+36insA	Hypertrophic cardiomyopathy 6 [RCV001789307]\|Lethal congenital glycogen storage disease of heart [RCV001789308]\|Wolff-Parkinson-White pattern [RCV001789306]\|not provided [RCV001660332]\|not specified [RCV000245219]	benign\|likely benign	7	151595309	151595310	Human	3	name
405135845	CV3044416	single nucleotide variant	NM_016203.4(PRKAG2):c.231C>T (p.Phe77=)	Lethal congenital glycogen storage disease of heart [RCV003618785]	likely benign	7	151781387	151781387	Human	1	name
11604464	CV305445	single nucleotide variant	NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)	Cardiomyopathy [RCV000769259]\|Cardiovascular phenotype [RCV002392919]\|Hypertrophic cardiomyopathy 6 [RCV000309494]\|Hypertrophic cardiomyopathy [RCV003995905]\|Lethal congenital glycogen storage disease of heart [RCV002058659]\|Wolff-Parkinson-White pattern [RCV000394152]\|not provided [RCV001812907]\|no ... (more) t specified [RCV000434138]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151786518	151786518	Human	7	name
402524304	CV3123623	single nucleotide variant	NM_016203.4(PRKAG2):c.273A>T (p.Ala91=)	Lethal congenital glycogen storage disease of heart [RCV003825049]	likely benign	7	151781345	151781345	Human	1	name
405200980	CV3128971	single nucleotide variant	NM_016203.4(PRKAG2):c.207G>C (p.Pro69=)	Lethal congenital glycogen storage disease of heart [RCV003822014]	likely benign	7	151781411	151781411	Human	1	name
405729975	CV3228978	single nucleotide variant	NM_016203.4(PRKAG2):c.168A>G (p.Gly56=)	Hypertrophic cardiomyopathy [RCV004013728]	likely benign	7	151786488	151786488	Human	2	name
405753744	CV3234437	single nucleotide variant	NM_016203.4(PRKAG2):c.23C>T (p.Thr8Ile)	Hypertrophic cardiomyopathy [RCV004016487]	uncertain significance	7	151876598	151876598	Human	2	name
405744292	CV3234581	single nucleotide variant	NM_016203.4(PRKAG2):c.126C>T (p.Ser42=)	Hypertrophic cardiomyopathy [RCV004015455]	likely benign	7	151786530	151786530	Human	2	name
407465550	CV3464304	single nucleotide variant	NM_016203.4(PRKAG2):c.142C>T (p.Leu48=)	Cardiovascular phenotype [RCV004660179]	likely benign	7	151786514	151786514	Human		name
596943379	CV3546675	single nucleotide variant	NM_016203.4(PRKAG2):c.219C>T (p.Ser73=)	Hypertrophic cardiomyopathy [RCV004807800]	likely benign	7	151781399	151781399	Human	2	name
597706428	CV3581466	single nucleotide variant	NM_016203.4(PRKAG2):c.195C>T (p.Ser65=)	Cardiovascular phenotype [RCV004989419]\|Lethal congenital glycogen storage disease of heart [RCV005061531]	likely benign	7	151781423	151781423	Human	1	name
597706462	CV3581472	single nucleotide variant	NM_016203.4(PRKAG2):c.141C>A (p.Leu47=)	Cardiovascular phenotype [RCV004989425]	likely benign	7	151786515	151786515	Human		name
597706497	CV3581479	single nucleotide variant	NM_016203.4(PRKAG2):c.280A>C (p.Arg94=)	Cardiovascular phenotype [RCV004989432]	likely benign	7	151781338	151781338	Human		name
597706500	CV3581480	single nucleotide variant	NM_016203.4(PRKAG2):c.276T>C (p.Pro92=)	Cardiovascular phenotype [RCV004989433]	likely benign	7	151781342	151781342	Human		name
597706505	CV3581481	single nucleotide variant	NM_016203.4(PRKAG2):c.273A>C (p.Ala91=)	Cardiovascular phenotype [RCV004989434]	likely benign	7	151781345	151781345	Human		name
597706509	CV3581482	single nucleotide variant	NM_016203.4(PRKAG2):c.225G>C (p.Gly75=)	Cardiovascular phenotype [RCV004989435]	likely benign	7	151781393	151781393	Human		name
12846157	CV369654	single nucleotide variant	NM_016203.4(PRKAG2):c.102C>G (p.Arg34=)	Cardiomyopathy [RCV003532113]\|Hypertrophic cardiomyopathy [RCV004000490]\|Lethal congenital glycogen storage disease of heart [RCV003766348]\|not specified [RCV000441122]	likely benign	7	151876519	151876519	Human	5	name
597893094	CV3820433	single nucleotide variant	NM_016203.4(PRKAG2):c.132C>T (p.Ala44=)	Lethal congenital glycogen storage disease of heart [RCV005167950]	likely benign	7	151786524	151786524	Human	1	name
597903782	CV3834826	single nucleotide variant	NM_016203.4(PRKAG2):c.186G>A (p.Lys62=)	Lethal congenital glycogen storage disease of heart [RCV005178549]	uncertain significance	7	151786470	151786470	Human	1	name
13491058	CV457134	single nucleotide variant	NM_016203.4(PRKAG2):c.114G>C (p.Pro38=)	Lethal congenital glycogen storage disease of heart [RCV000533952]	uncertain significance	7	151876507	151876507	Human	1	name
13532588	CV501682	single nucleotide variant	NM_016203.4(PRKAG2):c.181C>A (p.Arg61=)	Hypertrophic cardiomyopathy [RCV004807028]\|not specified [RCV000606851]	likely benign	7	151786475	151786475	Human	2	name
13535929	CV501968	single nucleotide variant	NM_016203.4(PRKAG2):c.222A>G (p.Lys74=)	Cardiovascular phenotype [RCV002431799]\|Lethal congenital glycogen storage disease of heart [RCV001488315]\|not specified [RCV000608262]	likely benign	7	151781396	151781396	Human	1	name
13610403	CV522501	single nucleotide variant	NM_016203.4(PRKAG2):c.204C>T (p.Gly68=)	Lethal congenital glycogen storage disease of heart [RCV000641196]	likely benign	7	151781414	151781414	Human	1	name
8608552	CV54853	single nucleotide variant	NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)	Cardiomyopathy [RCV000770266]\|Cardiovascular phenotype [RCV000244616]\|Hypertrophic cardiomyopathy 6 [RCV000372444]\|Hypertrophic cardiomyopathy [RCV003125867]\|Lethal congenital glycogen storage disease of heart [RCV000228988]\|Wolff-Parkinson-White pattern [RCV000277990]\|not provided [RCV001529843]\|no ... (more) t specified [RCV000038906]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151876510	151876510	Human	7	name
8608554	CV54855	single nucleotide variant	NM_016203.4(PRKAG2):c.114G>A (p.Pro38=)	not specified [RCV000038908]	likely benign	7	151876507	151876507	Human		name
8608556	CV54857	single nucleotide variant	NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)	Cardiomyopathy [RCV000776092]\|Cardiovascular phenotype [RCV000621787]\|Hypertrophic cardiomyopathy 6 [RCV000306098]\|Lethal congenital glycogen storage disease of heart [RCV000360838]\|Wolff-Parkinson-White pattern [RCV000265183]\|not provided [RCV000858667]\|not specified [RCV000038911]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151786533	151786533	Human	5	name
8608573	CV54874	single nucleotide variant	NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)	Cardiomyopathy [RCV000769258]\|Cardiovascular phenotype [RCV000245644]\|Hypertrophic cardiomyopathy 6 [RCV000283120]\|Hypertrophic cardiomyopathy [RCV003996416]\|Lethal congenital glycogen storage disease of heart [RCV000318658]\|Wolff-Parkinson-White pattern [RCV000373326]\|not provided [RCV001705686]\|no ... (more) t specified [RCV000038930]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	151781411	151781411	Human	7	name
8608574	CV54875	single nucleotide variant	NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)	Cardiomyopathy [RCV000776288]\|Cardiovascular phenotype [RCV002444489]\|Hypertrophic cardiomyopathy 6 [RCV000271548]\|Hypertrophic cardiomyopathy [RCV003996417]\|Lethal congenital glycogen storage disease of heart [RCV000326488]\|PRKAG2-related disorder [RCV004734555 ... (more) ]\|Wolff-Parkinson-White pattern [RCV000362596]\|not provided [RCV001725950]\|not specified [RCV000038931]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	7	151781378	151781378	Human	7	name , alternate_id
14688536	CV614952	single nucleotide variant	NM_016203.4(PRKAG2):c.250C>A (p.Arg84=)	Cardiomyopathy [RCV000769257]	uncertain significance	7	151781368	151781368	Human	2	name
14690302	CV617366	single nucleotide variant	NM_016203.4(PRKAG2):c.201C>T (p.Phe67=)	Cardiomyopathy [RCV000774161]\|Hypertrophic cardiomyopathy [RCV004001356]\|Lethal congenital glycogen storage disease of heart [RCV002534121]\|not specified [RCV005405309]	likely benign	7	151781417	151781417	Human	5	name
15120095	CV683864	single nucleotide variant	NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)	Cardiomyopathy [RCV001177355]\|Cardiovascular phenotype [RCV002434059]\|Hypertrophic cardiomyopathy [RCV004002912]\|Lethal congenital glycogen storage disease of heart [RCV000861623]\|Lethal congenital glycogen storage disease of heart [RCV002487886]	likely benign	7	151781321	151781321	Human	7	name
15123995	CV683865	single nucleotide variant	NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)	Cardiomyopathy [RCV001192142]\|Cardiovascular phenotype [RCV002390743]\|Hypertrophic cardiomyopathy [RCV004002918]\|Lethal congenital glycogen storage disease of heart [RCV001087270]\|Lethal congenital glycogen storage disease of heart [RCV002487889]\|PRKAG2-related ... (more) disorder [RCV004538191]\|not provided [RCV000862337]\|not specified [RCV001701453]	benign\|likely benign	7	151786509	151786509	Human	7	name , alternate_id
15099913	CV687008	single nucleotide variant	NM_016203.4(PRKAG2):c.207G>T (p.Pro69=)	Cardiomyopathy [RCV001180062]\|Cardiovascular phenotype [RCV002416041]\|Lethal congenital glycogen storage disease of heart [RCV001501709]	likely benign	7	151781411	151781411	Human	3	name
15146639	CV766186	single nucleotide variant	NM_016203.4(PRKAG2):c.108C>T (p.His36=)	Cardiomyopathy [RCV003532334]\|Hypertrophic cardiomyopathy [RCV004004334]\|Lethal congenital glycogen storage disease of heart [RCV001503268]	likely benign	7	151876513	151876513	Human	5	name
15113648	CV775371	deletion	NM_016203.4(PRKAG2):c.1106+9_1106+11del	Lethal congenital glycogen storage disease of heart [RCV001464040]	likely benign	7	151570160	151570162	Human	1	name
34901569	CV910888	single nucleotide variant	NM_016203.4(PRKAG2):c.252G>A (p.Arg84=)	Cardiomyopathy [RCV001191895]\|Hypertrophic cardiomyopathy [RCV004010553]	likely benign	7	151781366	151781366	Human	4	name
34897042	CV910890	single nucleotide variant	NM_016203.4(PRKAG2):c.189G>T (p.Val63=)	Cardiomyopathy [RCV001186130]\|Lethal congenital glycogen storage disease of heart [RCV003507360]	likely benign	7	151781429	151781429	Human	3	name
34892113	CV910893	single nucleotide variant	NM_016203.4(PRKAG2):c.171G>A (p.Lys57=)	Cardiomyopathy [RCV001182867]\|Hypertrophic cardiomyopathy [RCV004008333]\|Lethal congenital glycogen storage disease of heart [RCV001451876]	likely benign	7	151786485	151786485	Human	5	name
34901116	CV910894	single nucleotide variant	NM_016203.4(PRKAG2):c.165C>T (p.Ser55=)	Cardiomyopathy [RCV001191208]\|Cardiovascular phenotype [RCV002402556]\|Hypertrophic cardiomyopathy [RCV004010492]\|Lethal congenital glycogen storage disease of heart [RCV001486077]	likely benign	7	151786491	151786491	Human	5	name
34898963	CV910895	single nucleotide variant	NM_016203.4(PRKAG2):c.141C>T (p.Leu47=)	Cardiomyopathy [RCV001187705]\|Lethal congenital glycogen storage disease of heart [RCV003507361]\|PRKAG2-related disorder [RCV004734039]	likely benign	7	151786515	151786515	Human	3	name , alternate_id
34896972	CV910897	single nucleotide variant	NM_016203.4(PRKAG2):c.129C>T (p.Phe43=)	Cardiomyopathy [RCV001186077]\|Cardiovascular phenotype [RCV002379718]\|Hypertrophic cardiomyopathy [RCV004008575]\|Lethal congenital glycogen storage disease of heart [RCV002559099]	likely benign	7	151786527	151786527	Human	5	name
34900181	CV910903	single nucleotide variant	NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met)	Cardiomyopathy [RCV001189600]\|Lethal congenital glycogen storage disease of heart [RCV003770137]	uncertain significance	7	151876595	151876595	Human	3	name
126915167	CV1044823	single nucleotide variant	NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg)	Cardiomyopathy [RCV005403051]\|Lethal congenital glycogen storage disease of heart [RCV001359832]	likely benign\|uncertain significance	7	151876538	151876538	Human	3	name
127234944	CV1074569	single nucleotide variant	NM_016203.4(PRKAG2):c.909A>C (p.Ala303=)	Cardiomyopathy [RCV001806172]\|Lethal congenital glycogen storage disease of heart [RCV001414302]	likely benign	7	151576408	151576408	Human	3	name
127235621	CV1074570	single nucleotide variant	NM_016203.4(PRKAG2):c.885T>A (p.Ala295=)	Lethal congenital glycogen storage disease of heart [RCV001391923]	likely benign	7	151576432	151576432	Human	1	name
127248095	CV1074571	single nucleotide variant	NM_016203.4(PRKAG2):c.618G>A (p.Pro206=)	Cardiomyopathy [RCV005403077]\|Cardiovascular phenotype [RCV003160672]\|Hypertrophic cardiomyopathy [RCV004006941]\|Lethal congenital glycogen storage disease of heart [RCV001417052]	likely benign	7	151675486	151675486	Human	5	name
127236004	CV1074572	single nucleotide variant	NM_016203.4(PRKAG2):c.609G>A (p.Arg203=)	Cardiomyopathy [RCV001806173]\|Hypertrophic cardiomyopathy [RCV004006935]\|Lethal congenital glycogen storage disease of heart [RCV001414586]	likely benign	7	151675495	151675495	Human	5	name
127243811	CV1074573	single nucleotide variant	NM_016203.4(PRKAG2):c.522G>A (p.Thr174=)	Cardiomyopathy [RCV001806174]\|Cardiovascular phenotype [RCV004038131]\|Hypertrophic cardiomyopathy [RCV004006939]\|Lethal congenital glycogen storage disease of heart [RCV001416245]	likely benign	7	151675582	151675582	Human	5	name
127249513	CV1096189	single nucleotide variant	NM_016203.4(PRKAG2):c.405C>T (p.Ser135=)	Lethal congenital glycogen storage disease of heart [RCV001436107]	likely benign	7	151781213	151781213	Human	1	name
127325869	CV1138637	single nucleotide variant	NM_016203.4(PRKAG2):c.876C>G (p.Ala292=)	Lethal congenital glycogen storage disease of heart [RCV001506125]	likely benign	7	151576441	151576441	Human	1	name
127308619	CV1138638	single nucleotide variant	NM_016203.4(PRKAG2):c.816C>T (p.Asp272=)	Cardiomyopathy [RCV003533001]\|Lethal congenital glycogen storage disease of heart [RCV001500827]	likely benign	7	151595393	151595393	Human	3	name
127330857	CV1138639	single nucleotide variant	NM_016203.4(PRKAG2):c.798G>A (p.Arg266=)	Lethal congenital glycogen storage disease of heart [RCV001488414]	likely benign	7	151595411	151595411	Human	1	name
151348601	CV1322623	single nucleotide variant	NM_016203.4(PRKAG2):c.648A>G (p.Pro216=)	Cardiomyopathy [RCV001804419]\|Hypertrophic cardiomyopathy [RCV004009087]\|Lethal congenital glycogen storage disease of heart [RCV003617942]	likely benign	7	151675456	151675456	Human	5	name
151348627	CV1322635	single nucleotide variant	NM_016203.4(PRKAG2):c.979C>T (p.Leu327=)	Cardiomyopathy [RCV001804431]	likely benign	7	151574917	151574917	Human	2	name
151350780	CV1323152	single nucleotide variant	NM_016203.4(PRKAG2):c.513G>A (p.Lys171=)	Cardiomyopathy [RCV001805480]	likely benign	7	151675591	151675591	Human	2	name
151351046	CV1323300	single nucleotide variant	NM_016203.4(PRKAG2):c.390C>G (p.Ser130=)	Cardiomyopathy [RCV001805628]\|Hypertrophic cardiomyopathy [RCV004009151]\|Lethal congenital glycogen storage disease of heart [RCV002074207]	likely benign	7	151781228	151781228	Human	5	name
8692544	CV142513	single nucleotide variant	NM_016203.4(PRKAG2):c.591C>T (p.Pro197=)	Cardiomyopathy [RCV001181120]\|Cardiovascular phenotype [RCV002354318]\|Hypertrophic cardiomyopathy [RCV003997452]\|Lethal congenital glycogen storage disease of heart [RCV001485161]\|not specified [RCV000127614]	benign\|likely benign	7	151675513	151675513	Human	5	name
152167106	CV1524559	single nucleotide variant	NM_016203.4(PRKAG2):c.861A>G (p.Leu287=)	Lethal congenital glycogen storage disease of heart [RCV002142075]	likely benign	7	151595348	151595348	Human	1	name
152116745	CV1569714	single nucleotide variant	NM_016203.4(PRKAG2):c.318C>T (p.Phe106=)	Cardiovascular phenotype [RCV002325631]\|Lethal congenital glycogen storage disease of heart [RCV002117293]	likely benign	7	151781300	151781300	Human	1	name
152114126	CV1582059	single nucleotide variant	NM_016203.4(PRKAG2):c.612C>T (p.Phe204=)	Lethal congenital glycogen storage disease of heart [RCV002097241]	likely benign	7	151675492	151675492	Human	1	name
152107069	CV1591875	single nucleotide variant	NM_016203.4(PRKAG2):c.510C>T (p.Thr170=)	Lethal congenital glycogen storage disease of heart [RCV002214959]	likely benign	7	151675594	151675594	Human	1	name
152137344	CV1625530	single nucleotide variant	NM_016203.4(PRKAG2):c.762A>G (p.Glu254=)	Lethal congenital glycogen storage disease of heart [RCV002137720]	likely benign	7	151595447	151595447	Human	1	name
152156821	CV1629772	single nucleotide variant	NM_016203.4(PRKAG2):c.774T>C (p.Ser258=)	Lethal congenital glycogen storage disease of heart [RCV002202759]	likely benign	7	151595435	151595435	Human	1	name
152148060	CV1653857	single nucleotide variant	NM_016203.4(PRKAG2):c.858A>T (p.Thr286=)	Lethal congenital glycogen storage disease of heart [RCV002139100]	likely benign	7	151595351	151595351	Human	1	name
152064407	CV1654246	single nucleotide variant	NM_016203.4(PRKAG2):c.780T>A (p.Val260=)	Lethal congenital glycogen storage disease of heart [RCV002190948]	likely benign	7	151595429	151595429	Human	1	name
9690203	CV174051	single nucleotide variant	NM_016203.4(PRKAG2):c.807G>A (p.Lys269=)	Cardiomyopathy [RCV001177852]\|Cardiovascular phenotype [RCV004984690]\|Hypertrophic cardiomyopathy [RCV003998291]\|Lethal congenital glycogen storage disease of heart [RCV000641201]\|not specified [RCV000155875]	likely benign	7	151595402	151595402	Human	5	name
155696674	CV1800784	single nucleotide variant	NM_016203.4(PRKAG2):c.600A>G (p.Thr200=)	Cardiovascular phenotype [RCV002358042]\|Lethal congenital glycogen storage disease of heart [RCV003507421]	likely benign	7	151675504	151675504	Human	1	name
155743450	CV1806787	single nucleotide variant	NM_016203.4(PRKAG2):c.559T>C (p.Leu187=)	Cardiovascular phenotype [RCV002344868]	likely benign	7	151675545	151675545	Human		name
155672913	CV1809584	single nucleotide variant	NM_016203.4(PRKAG2):c.501C>A (p.Thr167=)	Cardiovascular phenotype [RCV002351391]\|Lethal congenital glycogen storage disease of heart [RCV003617976]	likely benign	7	151675603	151675603	Human	1	name
155667329	CV1819674	single nucleotide variant	NM_016203.4(PRKAG2):c.744C>T (p.Phe248=)	Cardiovascular phenotype [RCV002385105]	likely benign	7	151632079	151632079	Human		name
155700291	CV1821052	single nucleotide variant	NM_016203.4(PRKAG2):c.89G>A (p.Arg30Lys)	Cardiovascular phenotype [RCV002376334]	uncertain significance	7	151876532	151876532	Human		name
155668118	CV1821873	single nucleotide variant	NM_016203.4(PRKAG2):c.666C>T (p.His222=)	Cardiovascular phenotype [RCV002366945]	likely benign	7	151675438	151675438	Human		name
155707950	CV1822349	single nucleotide variant	NM_016203.4(PRKAG2):c.699G>T (p.Ala233=)	Cardiovascular phenotype [RCV002378212]	likely benign	7	151632124	151632124	Human		name
156052491	CV1881769	single nucleotide variant	NM_016203.4(PRKAG2):c.585T>C (p.Ser195=)	Hypertrophic cardiomyopathy [RCV004009363]\|Lethal congenital glycogen storage disease of heart [RCV003078927]	likely benign	7	151675519	151675519	Human	3	name
156074149	CV1889988	single nucleotide variant	NM_016203.4(PRKAG2):c.528C>G (p.Pro176=)	Cardiomyopathy [RCV003533350]\|Hypertrophic cardiomyopathy [RCV004009382]\|Lethal congenital glycogen storage disease of heart [RCV003079642]	likely benign	7	151675576	151675576	Human	5	name
156036158	CV1918257	single nucleotide variant	NM_016203.4(PRKAG2):c.402T>C (p.Ser134=)	Lethal congenital glycogen storage disease of heart [RCV002620060]	likely benign	7	151781216	151781216	Human	1	name
156143058	CV1918258	single nucleotide variant	NM_016203.4(PRKAG2):c.399G>A (p.Glu133=)	Lethal congenital glycogen storage disease of heart [RCV002623731]	likely benign	7	151781219	151781219	Human	1	name
156448406	CV1950863	single nucleotide variant	NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys)	Cardiovascular phenotype [RCV004654177]\|Hypertrophic cardiomyopathy [RCV004009583]\|Lethal congenital glycogen storage disease of heart [RCV003119966]	uncertain significance	7	151876569	151876569	Human	3	name
156288458	CV1964767	single nucleotide variant	NM_016203.4(PRKAG2):c.915A>C (p.Pro305=)	Cardiomyopathy [RCV003533280]\|Lethal congenital glycogen storage disease of heart [RCV002577734]	likely benign	7	151576402	151576402	Human	3	name
156416123	CV1966473	single nucleotide variant	NM_016203.4(PRKAG2):c.321G>A (p.Pro107=)	Cardiovascular phenotype [RCV005264241]\|Lethal congenital glycogen storage disease of heart [RCV002589539]	likely benign	7	151781297	151781297	Human	1	name
156420038	CV1979394	single nucleotide variant	NM_016203.4(PRKAG2):c.777T>C (p.Gly259=)	Hypertrophic cardiomyopathy [RCV004007507]\|Lethal congenital glycogen storage disease of heart [RCV002613289]	likely benign	7	151595432	151595432	Human	3	name
155907997	CV2017425	single nucleotide variant	NM_016203.4(PRKAG2):c.924G>A (p.Glu308=)	Hypertrophic cardiomyopathy [RCV004808367]\|Lethal congenital glycogen storage disease of heart [RCV002681514]	likely benign	7	151576393	151576393	Human	3	name
156162614	CV2056466	single nucleotide variant	NM_016203.4(PRKAG2):c.852T>C (p.Asp284=)	Lethal congenital glycogen storage disease of heart [RCV002801688]	likely benign	7	151595357	151595357	Human	1	name
156265648	CV2059597	single nucleotide variant	NM_016203.4(PRKAG2):c.813T>C (p.Tyr271=)	Lethal congenital glycogen storage disease of heart [RCV002806482]	likely benign	7	151595396	151595396	Human	1	name
156238972	CV2081996	single nucleotide variant	NM_016203.4(PRKAG2):c.441C>A (p.Ile147=)	Cardiomyopathy [RCV003533306]\|Lethal congenital glycogen storage disease of heart [RCV002876525]	likely benign	7	151781177	151781177	Human	3	name
155994215	CV2112926	single nucleotide variant	NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly)	Hypertrophic cardiomyopathy [RCV004007699]\|Lethal congenital glycogen storage disease of heart [RCV002947477]	uncertain significance	7	151876530	151876530	Human	3	name
156027688	CV2156172	single nucleotide variant	NM_016203.4(PRKAG2):c.510C>G (p.Thr170=)	Lethal congenital glycogen storage disease of heart [RCV003018536]	likely benign	7	151675594	151675594	Human	1	name
156350954	CV2157483	single nucleotide variant	NM_016203.4(PRKAG2):c.916C>T (p.Leu306=)	Lethal congenital glycogen storage disease of heart [RCV003030869]	likely benign	7	151576401	151576401	Human	1	name
156261458	CV2191045	single nucleotide variant	NM_016203.4(PRKAG2):c.711C>G (p.Pro237=)	Lethal congenital glycogen storage disease of heart [RCV003044132]	likely benign	7	151632112	151632112	Human	1	name
11089810	CV229564	single nucleotide variant	NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)	Cardiomyopathy [RCV001189150]\|Cardiovascular phenotype [RCV002372219]\|Hypertrophic cardiomyopathy 6 [RCV001158337]\|Hypertrophic cardiomyopathy [RCV003997713]\|Lethal congenital glycogen storage disease of heart [RCV000879780]\|Wolff-Parkinson-White pattern [RCV001158338]\|not provided [RCV001529588]\|no ... (more) t specified [RCV000215275]	likely benign\|uncertain significance	7	151574915	151574915	Human	7	name
11095856	CV229565	single nucleotide variant	NM_016203.4(PRKAG2):c.837G>A (p.Lys279=)	not specified [RCV000222849]	likely benign	7	151595372	151595372	Human		name
11092456	CV229566	single nucleotide variant	NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)	Cardiomyopathy [RCV001186885]\|Lethal congenital glycogen storage disease of heart [RCV002057139]\|not specified [RCV000218558]	likely benign	7	151632103	151632103	Human	3	name
11549067	CV252651	single nucleotide variant	NM_016203.4(PRKAG2):c.945A>G (p.Val315=)	Cardiovascular phenotype [RCV005260029]\|Hypertrophic cardiomyopathy [RCV003998997]\|Lethal congenital glycogen storage disease of heart [RCV000819173]\|not specified [RCV000249935]	likely benign\|uncertain significance	7	151576372	151576372	Human	3	name
401718714	CV2730877	single nucleotide variant	NM_016203.4(PRKAG2):c.696G>T (p.Ala232=)	Cardiovascular phenotype [RCV003311141]	likely benign	7	151632127	151632127	Human		name
401740019	CV2738661	single nucleotide variant	NM_016203.4(PRKAG2):c.945A>T (p.Val315=)	not provided [RCV003318055]	uncertain significance	7	151576372	151576372	Human		name
401829850	CV2744032	single nucleotide variant	NM_016203.4(PRKAG2):c.714G>A (p.Ala238=)	PRKAG2-related disorder [RCV004538944]\|not provided [RCV003327192]	likely benign\|uncertain significance	7	151632109	151632109	Human		name , alternate_id
402501567	CV2894086	single nucleotide variant	NM_016203.4(PRKAG2):c.879C>T (p.Phe293=)	Cardiomyopathy [RCV005403326]\|Lethal congenital glycogen storage disease of heart [RCV003508785]	likely benign	7	151576438	151576438	Human	3	name
402502072	CV2905019	single nucleotide variant	NM_016203.4(PRKAG2):c.47G>C (p.Ser16Thr)	Lethal congenital glycogen storage disease of heart [RCV003508845]	likely benign	7	151876574	151876574	Human	1	name
405065788	CV2934902	single nucleotide variant	NM_016203.4(PRKAG2):c.393C>G (p.Ser131=)	Cardiomyopathy [RCV003532808]	likely benign	7	151781225	151781225	Human	2	name
405129766	CV2941232	single nucleotide variant	NM_016203.4(PRKAG2):c.714G>C (p.Ala238=)	Lethal congenital glycogen storage disease of heart [RCV003618151]	likely benign	7	151632109	151632109	Human	1	name
405130746	CV2954305	deletion	NM_016203.4(PRKAG2):c.1051+10_1051+11del	Lethal congenital glycogen storage disease of heart [RCV003618254]	likely benign	7	151572653	151572654	Human	1	name
405130984	CV2958619	single nucleotide variant	NM_016203.4(PRKAG2):c.381C>T (p.Phe127=)	Hypertrophic cardiomyopathy [RCV004011666]\|Lethal congenital glycogen storage disease of heart [RCV003618278]	likely benign	7	151781237	151781237	Human	3	name
405125487	CV3026138	single nucleotide variant	NM_016203.4(PRKAG2):c.492A>G (p.Ser164=)	Lethal congenital glycogen storage disease of heart [RCV003617592]	likely benign	7	151675612	151675612	Human	1	name
11644671	CV305441	single nucleotide variant	NM_016203.4(PRKAG2):c.787C>A (p.Arg263=)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000261401]\|Lethal congenital glycogen storage disease of heart [RCV000356301]\|Wolff-Parkinson-White pattern [RCV001795982]	uncertain significance	7	151595422	151595422	Human	2	name
11602091	CV305443	single nucleotide variant	NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)	Cardiomyopathy [RCV001175620]\|Cardiovascular phenotype [RCV002328875]\|Hypertrophic cardiomyopathy 6 [RCV000382643]\|Hypertrophic cardiomyopathy [RCV003995902]\|Lethal congenital glycogen storage disease of heart [RCV000324638]\|Wolff-Parkinson-White pattern [RCV000288026]\|not provided [RCV001706594]\|no ... (more) t specified [RCV003323523]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151781189	151781189	Human	7	name
405238962	CV3081394	single nucleotide variant	NM_016203.4(PRKAG2):c.606G>A (p.Gln202=)	not provided [RCV003736468]	likely benign	7	151675498	151675498	Human		name
404999314	CV3120159	single nucleotide variant	NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)	Lethal congenital glycogen storage disease of heart [RCV003827949]	uncertain significance	7	151876577	151876577	Human	1	name
405141664	CV3131263	single nucleotide variant	NM_016203.4(PRKAG2):c.904C>A (p.Arg302=)	Lethal congenital glycogen storage disease of heart [RCV003839303]	likely benign	7	151576413	151576413	Human	1	name
405150743	CV3142123	single nucleotide variant	NM_016203.4(PRKAG2):c.585T>G (p.Ser195=)	Lethal congenital glycogen storage disease of heart [RCV003840045]	likely benign	7	151675519	151675519	Human	1	name
402519845	CV3179409	single nucleotide variant	NM_016203.4(PRKAG2):c.396A>G (p.Lys132=)	Lethal congenital glycogen storage disease of heart [RCV003879660]	likely benign	7	151781222	151781222	Human	1	name
405737216	CV3228622	single nucleotide variant	NM_016203.4(PRKAG2):c.639C>G (p.Thr213=)	Hypertrophic cardiomyopathy [RCV004014541]	likely benign	7	151675465	151675465	Human	2	name
405737647	CV3228675	single nucleotide variant	NM_016203.4(PRKAG2):c.55G>T (p.Gly19Trp)	Hypertrophic cardiomyopathy [RCV004014595]	uncertain significance	7	151876566	151876566	Human	2	name
405730982	CV3229089	single nucleotide variant	NM_016203.4(PRKAG2):c.636G>C (p.Pro212=)	Hypertrophic cardiomyopathy [RCV004013839]	likely benign	7	151675468	151675468	Human	2	name
405732640	CV3229454	single nucleotide variant	NM_016203.4(PRKAG2):c.369C>T (p.Phe123=)	Hypertrophic cardiomyopathy [RCV004014021]	likely benign	7	151781249	151781249	Human	2	name
405696312	CV3230270	single nucleotide variant	NM_016203.4(PRKAG2):c.69G>T (p.Lys23Asn)	Hypertrophic cardiomyopathy [RCV004008189]	uncertain significance	7	151876552	151876552	Human	2	name
405719943	CV3231283	single nucleotide variant	NM_016203.4(PRKAG2):c.417C>T (p.Asn139=)	Hypertrophic cardiomyopathy [RCV004012689]	likely benign	7	151781201	151781201	Human	2	name
405752093	CV3232052	single nucleotide variant	NM_016203.4(PRKAG2):c.588C>T (p.Ser196=)	Hypertrophic cardiomyopathy [RCV004016368]	likely benign	7	151675516	151675516	Human	2	name
405754409	CV3232515	single nucleotide variant	NM_016203.4(PRKAG2):c.846C>G (p.Val282=)	Hypertrophic cardiomyopathy [RCV004016651]	likely benign	7	151595363	151595363	Human	2	name
405717288	CV3232756	single nucleotide variant	NM_016203.4(PRKAG2):c.55G>A (p.Gly19Arg)	Hypertrophic cardiomyopathy [RCV004012428]	uncertain significance	7	151876566	151876566	Human	2	name
405670577	CV3378172	single nucleotide variant	NM_016203.4(PRKAG2):c.89G>T (p.Arg30Met)	Cardiovascular phenotype [RCV004515097]	uncertain significance	7	151876532	151876532	Human		name
407513021	CV3464305	single nucleotide variant	NM_016203.4(PRKAG2):c.564G>A (p.Glu188=)	Cardiovascular phenotype [RCV004648630]	likely benign	7	151675540	151675540	Human		name
596943365	CV3546668	single nucleotide variant	NM_016203.4(PRKAG2):c.642G>A (p.Arg214=)	Hypertrophic cardiomyopathy [RCV004807793]\|Lethal congenital glycogen storage disease of heart [RCV005105220]	likely benign	7	151675462	151675462	Human	3	name
597706444	CV3581469	single nucleotide variant	NM_016203.4(PRKAG2):c.825A>G (p.Pro275=)	Cardiovascular phenotype [RCV004989422]	likely benign	7	151595384	151595384	Human		name
12835127	CV369070	single nucleotide variant	NM_016203.4(PRKAG2):c.810T>C (p.Cys270=)	Cardiomyopathy [RCV000771985]\|Cardiovascular phenotype [RCV003343826]\|Hypertrophic cardiomyopathy [RCV004000551]\|Lethal congenital glycogen storage disease of heart [RCV000966656]\|not provided [RCV001704526]	benign\|likely benign	7	151595399	151595399	Human	5	name
12844535	CV369358	single nucleotide variant	NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)	Cardiomyopathy [RCV001191838]\|Cardiovascular phenotype [RCV002392956]\|Hypertrophic cardiomyopathy 6 [RCV001161539]\|Lethal congenital glycogen storage disease of heart [RCV000556237]\|PRKAG2-related disorder [RCV004530544]\|Wolff-Parkinson-White pattern [RCV0011615 ... (more) 40]\|not provided [RCV001723984]\|not specified [RCV000438161]	benign\|likely benign\|uncertain significance	7	151632073	151632073	Human	5	name , alternate_id
12835552	CV369363	single nucleotide variant	NM_016203.4(PRKAG2):c.660G>A (p.Pro220=)	Cardiomyopathy [RCV001189448]\|Cardiovascular phenotype [RCV002365552]\|Hypertrophic cardiomyopathy [RCV004000517]\|Lethal congenital glycogen storage disease of heart [RCV001411670]\|not specified [RCV000421882]	likely benign	7	151675444	151675444	Human	5	name
12840309	CV369366	single nucleotide variant	NM_016203.4(PRKAG2):c.387C>A (p.Ser129=)	not specified [RCV000430456]	likely benign	7	151781231	151781231	Human		name
12846932	CV369637	single nucleotide variant	NM_016203.4(PRKAG2):c.393C>T (p.Ser131=)	Cardiomyopathy [RCV000769255]\|Cardiovascular phenotype [RCV002374631]\|Hypertrophic cardiomyopathy [RCV003995976]\|Lethal congenital glycogen storage disease of heart [RCV000926019]\|PRKAG2-related disorder [RCV004530543]\|not provided [RCV003422390]\|not specified [ ... (more) RCV000442595]	likely benign\|uncertain significance	7	151781225	151781225	Human	5	name , alternate_id
12837767	CV369659	single nucleotide variant	NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser)	Cardiovascular phenotype [RCV002365570]\|Lethal congenital glycogen storage disease of heart [RCV001861642]\|not provided [RCV000425731]	uncertain significance	7	151876557	151876557	Human	1	name
12841990	CV371044	single nucleotide variant	NM_016203.4(PRKAG2):c.912G>T (p.Ala304=)	Cardiomyopathy [RCV000770264]\|Cardiovascular phenotype [RCV002374648]\|Hypertrophic cardiomyopathy [RCV003996054]\|Lethal congenital glycogen storage disease of heart [RCV001402284]\|not provided [RCV000641193]\|not specified [RCV005404556]	likely benign	7	151576405	151576405	Human	5	name
12847692	CV371053	single nucleotide variant	NM_016203.4(PRKAG2):c.894C>G (p.Ala298=)	not specified [RCV000443942]	likely benign	7	151576423	151576423	Human		name
12840211	CV371056	single nucleotide variant	NM_016203.4(PRKAG2):c.591C>G (p.Pro197=)	Cardiovascular phenotype [RCV002356577]\|Hypertrophic cardiomyopathy [RCV004806299]\|Lethal congenital glycogen storage disease of heart [RCV001865359]\|not provided [RCV001704302]	likely benign	7	151675513	151675513	Human	3	name
12834698	CV371063	single nucleotide variant	NM_016203.4(PRKAG2):c.92G>T (p.Arg31Leu)	not provided [RCV000420397]	uncertain significance	7	151876529	151876529	Human		name
597831505	CV3740032	single nucleotide variant	NM_016203.4(PRKAG2):c.483C>T (p.Ser161=)	Lethal congenital glycogen storage disease of heart [RCV005062730]	likely benign	7	151675621	151675621	Human	1	name
597859831	CV3744691	single nucleotide variant	NM_016203.4(PRKAG2):c.85A>G (p.Lys29Glu)	Lethal congenital glycogen storage disease of heart [RCV005067236]	uncertain significance	7	151876536	151876536	Human	1	name
597837602	CV3774369	single nucleotide variant	NM_016203.4(PRKAG2):c.74A>G (p.Asn25Ser)	Lethal congenital glycogen storage disease of heart [RCV005109923]	uncertain significance	7	151876547	151876547	Human	1	name
597884482	CV3815648	single nucleotide variant	NM_016203.4(PRKAG2):c.330C>T (p.Tyr110=)	Lethal congenital glycogen storage disease of heart [RCV005159337]	likely benign	7	151781288	151781288	Human	1	name
597900718	CV3823099	single nucleotide variant	NM_016203.4(PRKAG2):c.52G>A (p.Gly18Ser)	Lethal congenital glycogen storage disease of heart [RCV005175449]	uncertain significance	7	151876569	151876569	Human	1	name
597904133	CV3835019	single nucleotide variant	NM_016203.4(PRKAG2):c.915A>G (p.Pro305=)	Lethal congenital glycogen storage disease of heart [RCV005178743]	likely benign	7	151576402	151576402	Human	1	name
12888647	CV395507	single nucleotide variant	NM_016203.4(PRKAG2):c.582G>A (p.Ser194=)	Cardiomyopathy [RCV001183510]\|Cardiovascular phenotype [RCV002356750]\|Lethal congenital glycogen storage disease of heart [RCV001433113]\|not specified [RCV003330713]	likely benign	7	151675522	151675522	Human	3	name
12892233	CV395728	single nucleotide variant	NM_016203.4(PRKAG2):c.351C>T (p.Ser117=)	Cardiovascular phenotype [RCV002455891]\|Lethal congenital glycogen storage disease of heart [RCV000461332]	likely benign	7	151781267	151781267	Human	1	name
12888188	CV395890	single nucleotide variant	NM_016203.4(PRKAG2):c.684C>T (p.Ala228=)	Cardiomyopathy [RCV001181625]\|Cardiovascular phenotype [RCV002365654]\|Hypertrophic cardiomyopathy [RCV004001870]\|Lethal congenital glycogen storage disease of heart [RCV000470431]\|not provided [RCV001712420]	benign\|likely benign\|uncertain significance	7	151675420	151675420	Human	5	name
12881247	CV395895	single nucleotide variant	NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile)	Cardiovascular phenotype [RCV005260130]\|Lethal congenital glycogen storage disease of heart [RCV000457488]\|not provided [RCV000786199]	uncertain significance	7	151876589	151876589	Human	1	name
616935491	CV4009579	single nucleotide variant	NM_016203.4(PRKAG2):c.933A>G (p.Lys311=)	Cardiomyopathy [RCV005402748]	likely benign	7	151576384	151576384	Human	2	name
616934784	CV4009988	single nucleotide variant	NM_016203.4(PRKAG2):c.426C>T (p.Thr142=)	Cardiomyopathy [RCV005401146]	likely benign	7	151781192	151781192	Human	2	name
616934888	CV4010142	single nucleotide variant	NM_016203.4(PRKAG2):c.468C>G (p.Thr156=)	Cardiomyopathy [RCV005401763]	likely benign	7	151675636	151675636	Human	2	name
616935885	CV4010377	single nucleotide variant	NM_016203.4(PRKAG2):c.789A>G (p.Arg263=)	Cardiomyopathy [RCV005403678]	likely benign	7	151595420	151595420	Human	2	name
13501875	CV457132	single nucleotide variant	NM_016203.4(PRKAG2):c.570C>T (p.Arg190=)	Cardiomyopathy [RCV000777841]\|Cardiovascular phenotype [RCV002350274]\|Lethal congenital glycogen storage disease of heart [RCV000541401]\|not specified [RCV000610946]	likely benign	7	151675534	151675534	Human	3	name
13541384	CV501999	single nucleotide variant	NM_016203.4(PRKAG2):c.882T>C (p.Phe294=)	Hypertrophic cardiomyopathy [RCV004807027]\|not specified [RCV000616088]	likely benign	7	151576435	151576435	Human	2	name
13534769	CV502014	single nucleotide variant	NM_016203.4(PRKAG2):c.303T>C (p.Ser101=)	Cardiomyopathy [RCV001190500]\|Cardiovascular phenotype [RCV002448895]\|Hypertrophic cardiomyopathy [RCV004002590]\|Lethal congenital glycogen storage disease of heart [RCV001431956]\|not provided [RCV000932522]	likely benign	7	151781315	151781315	Human	5	name
13539640	CV502309	single nucleotide variant	NM_016203.4(PRKAG2):c.649C>T (p.Leu217=)	not specified [RCV000613552]	likely benign	7	151675455	151675455	Human		name
13534618	CV502311	single nucleotide variant	NM_016203.4(PRKAG2):c.591C>A (p.Pro197=)	Cardiomyopathy [RCV001170704]\|Cardiovascular phenotype [RCV004985016]\|Hypertrophic cardiomyopathy [RCV004002607]\|Lethal congenital glycogen storage disease of heart [RCV001487498]\|not specified [RCV000607383]	likely benign	7	151675513	151675513	Human	5	name
13535880	CV502312	single nucleotide variant	NM_016203.4(PRKAG2):c.516G>A (p.Gln172=)	Cardiomyopathy [RCV001189430]\|Cardiovascular phenotype [RCV002334002]\|Hypertrophic cardiomyopathy [RCV004002592]\|Lethal congenital glycogen storage disease of heart [RCV001487933]\|not specified [RCV000608186]	likely benign	7	151675588	151675588	Human	5	name
13533286	CV502314	single nucleotide variant	NM_016203.4(PRKAG2):c.489G>A (p.Pro163=)	Cardiomyopathy [RCV001189669]\|Cardiovascular phenotype [RCV000617327]\|Hypertrophic cardiomyopathy [RCV004002508]\|Lethal congenital glycogen storage disease of heart [RCV001423738]\|not provided [RCV001697532]	likely benign	7	151675615	151675615	Human	5	name
13592909	CV509882	single nucleotide variant	NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)	Cardiomyopathy [RCV001189157]\|Cardiovascular phenotype [RCV000618106]\|Hypertrophic cardiomyopathy 6 [RCV001163070]\|Hypertrophic cardiomyopathy [RCV004002739]\|Lethal congenital glycogen storage disease of heart [RCV000641191]\|Wolff-Parkinson-White pattern [RCV001163071]\|not provided [RCV001171874]	benign\|likely benign\|uncertain significance	7	151781186	151781186	Human	7	name
13525778	CV511090	single nucleotide variant	NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)	Cardiomyopathy [RCV001179404]\|Cardiovascular phenotype [RCV005400739]\|Hypertrophic cardiomyopathy [RCV004002749]\|Lethal congenital glycogen storage disease of heart [RCV000765950]\|Lethal congenital glycogen storage disease of heart [RCV003106003]	uncertain significance	7	151876590	151876590	Human	7	name
13610386	CV522737	single nucleotide variant	NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)	Cardiomyopathy [RCV000773293]\|Cardiovascular phenotype [RCV002325250]\|Hypertrophic cardiomyopathy [RCV004003919]\|Lethal congenital glycogen storage disease of heart [RCV000641184]\|not provided [RCV004777792]\|not specified [RCV005405218]	likely benign\|uncertain significance	7	151876581	151876581	Human	5	name
13610405	CV522805	single nucleotide variant	NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)	Cardiomyopathy [RCV001176622]\|Cardiovascular phenotype [RCV002360569]\|Lethal congenital glycogen storage disease of heart [RCV000641197]\|not provided [RCV002222573]	likely benign\|uncertain significance	7	151632120	151632120	Human	3	name
13610373	CV522810	single nucleotide variant	NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu)	Cardiomyopathy [RCV001524936]\|Cardiovascular phenotype [RCV002343276]\|Hypertrophic cardiomyopathy [RCV004003918]\|Lethal congenital glycogen storage disease of heart [RCV000641180]\|not provided [RCV001712773]	benign\|uncertain significance	7	151876565	151876565	Human	5	name
8608577	CV54878	single nucleotide variant	NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)	Cardiomyopathy [RCV001180038]\|Cardiovascular phenotype [RCV002321516]\|Hypertrophic cardiomyopathy 6 [RCV001165166]\|Hypertrophic cardiomyopathy [RCV003996418]\|Lethal congenital glycogen storage disease of heart [RCV001088724]\|PRKAG2-related disorder [RCV004541118 ... (more) ]\|Wolff-Parkinson-White pattern [RCV001158444]\|not provided [RCV000841022]\|not specified [RCV000038935]	likely benign\|uncertain significance	7	151781306	151781306	Human	7	name , alternate_id
8608585	CV54886	single nucleotide variant	NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)	Cardiomyopathy [RCV000769253]\|Cardiovascular phenotype [RCV000252984]\|Hypertrophic cardiomyopathy 6 [RCV001163068]\|Lethal congenital glycogen storage disease of heart [RCV001084750]\|Wolff-Parkinson-White pattern [RCV001163069]\|not provided [RCV000641195]\|not specified [RCV000038943]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	7	151675633	151675633	Human	5	name
8608586	CV54887	single nucleotide variant	NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)	Cardiomyopathy [RCV000769252]\|Cardiovascular phenotype [RCV002345303]\|Hypertrophic cardiomyopathy [RCV003996422]\|Lethal congenital glycogen storage disease of heart [RCV000229684]\|not provided [RCV001618234]\|not specified [RCV000038944]	benign\|likely benign	7	151675573	151675573	Human	5	name
8608589	CV54891	single nucleotide variant	NM_016203.4(PRKAG2):c.594G>A (p.Pro198=)	Cardiomyopathy [RCV001188112]\|Cardiovascular phenotype [RCV002354199]\|Hypertrophic cardiomyopathy [RCV003996425]\|Lethal congenital glycogen storage disease of heart [RCV000813444]\|PRKAG2-related disorder [RCV004541119]\|not specified [RCV000038948]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151675510	151675510	Human	5	name , alternate_id
8608590	CV54892	single nucleotide variant	NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)	Cardiomyopathy [RCV000770267]\|Cardiovascular phenotype [RCV000248696]\|Hypertrophic cardiomyopathy 6 [RCV000332853]\|Hypertrophic cardiomyopathy [RCV003125870]\|Lethal congenital glycogen storage disease of heart [RCV000227227]\|Wolff-Parkinson-White pattern [RCV000387303]\|not provided [RCV001529923]\|no ... (more) t specified [RCV000038949]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	151876562	151876562	Human	7	name
8608591	CV54893	single nucleotide variant	NM_016203.4(PRKAG2):c.618G>T (p.Pro206=)	Cardiomyopathy [RCV001526074]\|Lethal congenital glycogen storage disease of heart [RCV003617795]\|not specified [RCV000038950]	likely benign	7	151675486	151675486	Human	3	name
8608593	CV54895	single nucleotide variant	NM_016203.4(PRKAG2):c.639C>T (p.Thr213=)	Cardiomyopathy [RCV000769249]\|Cardiovascular phenotype [RCV000242637]\|Hypertrophic cardiomyopathy [RCV003125871]\|Lethal congenital glycogen storage disease of heart [RCV000230000]\|not provided [RCV001668164]\|not specified [RCV000038952]	benign\|likely benign	7	151675465	151675465	Human	5	name
8608600	CV54902	single nucleotide variant	NM_016203.4(PRKAG2):c.897C>T (p.Asn299=)	Cardiomyopathy [RCV001177610]\|Cardiovascular phenotype [RCV002371839]\|Hypertrophic cardiomyopathy [RCV003996427]\|Lethal congenital glycogen storage disease of heart [RCV001462989]\|not provided [RCV001703889]\|not specified [RCV000038959]	likely benign	7	151576420	151576420	Human	5	name
8608601	CV54903	single nucleotide variant	NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)	Cardiomyopathy [RCV001180603]\|Cardiovascular phenotype [RCV000617849]\|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000397983]\|Hypertrophic cardiomyopathy [RCV003996428]\|Lethal congenital glycogen storage disease of heart [RCV000301529]\|PRKAG2 ... (more) RKAG2-related disorder [RCV004541120]\|Wolff-Parkinson-White pattern [RCV001795011]\|not provided [RCV000858484]\|not specified [RCV000038961]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151576405	151576405	Human	6	name , alternate_id
8608603	CV54905	single nucleotide variant	NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=)	Cardiomyopathy [RCV000770263]\|Cardiovascular phenotype [RCV002381314]\|Hypertrophic cardiomyopathy [RCV003996429]\|Lethal congenital glycogen storage disease of heart [RCV001482000]\|not provided [RCV000831464]\|not specified [RCV000038963]	likely benign	7	151574903	151574903	Human	5	name
13818993	CV564178	single nucleotide variant	NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro)	Lethal congenital glycogen storage disease of heart [RCV000694065]	uncertain significance	7	151876578	151876578	Human	1	name
13820310	CV566617	single nucleotide variant	NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln)	Cardiomyopathy [RCV001191954]\|Hypertrophic cardiomyopathy [RCV003999625]\|Lethal congenital glycogen storage disease of heart [RCV000694808]\|not provided [RCV003432738]	benign\|uncertain significance	7	151876554	151876554	Human	5	name
14690334	CV617363	single nucleotide variant	NM_016203.4(PRKAG2):c.846C>T (p.Val282=)	Cardiomyopathy [RCV000774231]\|Hypertrophic cardiomyopathy [RCV004001370]\|Lethal congenital glycogen storage disease of heart [RCV002061087]	likely benign	7	151595363	151595363	Human	5	name
14690462	CV617364	single nucleotide variant	NM_016203.4(PRKAG2):c.556C>A (p.Arg186=)	Cardiomyopathy [RCV000774513]\|Cardiovascular phenotype [RCV002343628]\|Lethal congenital glycogen storage disease of heart [RCV001457270]	likely benign	7	151675548	151675548	Human	3	name
14690124	CV617367	single nucleotide variant	NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg)	Cardiomyopathy [RCV000773404]\|Lethal congenital glycogen storage disease of heart [RCV002534060]	benign\|uncertain significance	7	151876553	151876553	Human	3	name
14699152	CV624349	single nucleotide variant	NM_016203.4(PRKAG2):c.46A>T (p.Ser16Cys)	not provided [RCV000788391]	uncertain significance	7	151876575	151876575	Human		name
15101472	CV687005	single nucleotide variant	NM_016203.4(PRKAG2):c.636G>A (p.Pro212=)	Cardiomyopathy [RCV001180676]\|Cardiovascular phenotype [RCV002363261]\|Hypertrophic cardiomyopathy [RCV004003059]\|Lethal congenital glycogen storage disease of heart [RCV000870268]	likely benign	7	151675468	151675468	Human	5	name
15100491	CV687006	single nucleotide variant	NM_016203.4(PRKAG2):c.342G>A (p.Pro114=)	Cardiomyopathy [RCV001525473]\|Cardiovascular phenotype [RCV002454001]\|Hypertrophic cardiomyopathy [RCV004003057]\|Lethal congenital glycogen storage disease of heart [RCV000870073]\|not provided [RCV001553271]	likely benign	7	151781276	151781276	Human	5	name
15158747	CV750523	single nucleotide variant	NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)	Cardiomyopathy [RCV001183159]\|Cardiovascular phenotype [RCV002382096]\|Lethal congenital glycogen storage disease of heart [RCV001397118]	likely benign	7	151632091	151632091	Human	3	name
15168168	CV750524	single nucleotide variant	NM_016203.4(PRKAG2):c.690G>T (p.Ala230=)	Cardiovascular phenotype [RCV002372578]\|Lethal congenital glycogen storage disease of heart [RCV001495340]	likely benign	7	151632133	151632133	Human	1	name
15187823	CV766185	single nucleotide variant	NM_016203.4(PRKAG2):c.357A>G (p.Arg119=)	Lethal congenital glycogen storage disease of heart [RCV001479179]	likely benign	7	151781261	151781261	Human	1	name
15114173	CV782823	single nucleotide variant	NM_016203.4(PRKAG2):c.477C>T (p.Leu159=)	Lethal congenital glycogen storage disease of heart [RCV001426170]	likely benign	7	151675627	151675627	Human	1	name
15133727	CV782824	single nucleotide variant	NM_016203.4(PRKAG2):c.435G>C (p.Gly145=)	Cardiomyopathy [RCV001524530]\|Hypertrophic cardiomyopathy [RCV004807243]\|Lethal congenital glycogen storage disease of heart [RCV000981602]	likely benign	7	151781183	151781183	Human	5	name
21069666	CV795994	single nucleotide variant	NM_016203.4(PRKAG2):c.720C>T (p.Ala240=)	not provided [RCV000998951]	uncertain significance	7	151632103	151632103	Human		name
21405624	CV799504	single nucleotide variant	NM_016203.4(PRKAG2):c.375G>A (p.Gly125=)	Lethal congenital glycogen storage disease of heart [RCV001860499]\|not specified [RCV001000885]	likely benign	7	151781243	151781243	Human	1	name
26918696	CV833370	single nucleotide variant	NM_016203.4(PRKAG2):c.696G>A (p.Ala232=)	Lethal congenital glycogen storage disease of heart [RCV001058176]\|not provided [RCV001552919]	likely benign\|uncertain significance	7	151632127	151632127	Human	1	name
28874240	CV897699	single nucleotide variant	NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser)	Cardiomyopathy [RCV001806030]\|Hypertrophic cardiomyopathy 6 [RCV001165267]\|Wolff-Parkinson-White pattern [RCV001165268]	uncertain significance	7	151876531	151876531	Human	4	name
34893689	CV910848	single nucleotide variant	NM_016203.4(PRKAG2):c.987A>G (p.Arg329=)	Cardiomyopathy [RCV001184058]\|not provided [RCV003314670]	likely benign\|uncertain significance	7	151574909	151574909	Human	2	name
34900025	CV910850	single nucleotide variant	NM_016203.4(PRKAG2):c.915A>T (p.Pro305=)	Cardiomyopathy [RCV001189326]\|Lethal congenital glycogen storage disease of heart [RCV002069068]	likely benign	7	151576402	151576402	Human	3	name
34901268	CV910851	single nucleotide variant	NM_016203.4(PRKAG2):c.900T>A (p.Gly300=)	Cardiomyopathy [RCV001191449]\|Hypertrophic cardiomyopathy [RCV004010508]\|Lethal congenital glycogen storage disease of heart [RCV002560979]	likely benign	7	151576417	151576417	Human	5	name
34900250	CV910853	single nucleotide variant	NM_016203.4(PRKAG2):c.819C>T (p.Ile273=)	Cardiomyopathy [RCV001189759]\|Hypertrophic cardiomyopathy [RCV004010379]\|Lethal congenital glycogen storage disease of heart [RCV002069084]	likely benign	7	151595390	151595390	Human	5	name
34893361	CV910854	single nucleotide variant	NM_016203.4(PRKAG2):c.804C>T (p.His268=)	Cardiomyopathy [RCV001183773]\|Lethal congenital glycogen storage disease of heart [RCV002559050]	likely benign	7	151595405	151595405	Human	3	name
34893653	CV910862	single nucleotide variant	NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)	Cardiomyopathy [RCV001176716]\|Lethal congenital glycogen storage disease of heart [RCV002068172]	likely benign	7	151632130	151632130	Human	3	name
34889720	CV910863	single nucleotide variant	NM_016203.4(PRKAG2):c.691C>T (p.Leu231=)	Cardiomyopathy [RCV001181656]	likely benign	7	151632132	151632132	Human	2	name
34895994	CV910864	single nucleotide variant	NM_016203.4(PRKAG2):c.687G>A (p.Ala229=)	Cardiomyopathy [RCV001185585]	likely benign	7	151632136	151632136	Human	2	name
34896131	CV910866	single nucleotide variant	NM_016203.4(PRKAG2):c.675C>G (p.Pro225=)	Cardiomyopathy [RCV001185629]	likely benign	7	151675429	151675429	Human	2	name
34892705	CV910868	single nucleotide variant	NM_016203.4(PRKAG2):c.660G>T (p.Pro220=)	Cardiomyopathy [RCV001183278]\|Hypertrophic cardiomyopathy [RCV004008367]\|Lethal congenital glycogen storage disease of heart [RCV001403084]	likely benign	7	151675444	151675444	Human	5	name
34892523	CV910869	single nucleotide variant	NM_016203.4(PRKAG2):c.633C>T (p.Ser211=)	Cardiomyopathy [RCV001183149]	likely benign	7	151675471	151675471	Human	2	name
34896412	CV910872	single nucleotide variant	NM_016203.4(PRKAG2):c.585T>A (p.Ser195=)	Cardiomyopathy [RCV001178447]\|Cardiovascular phenotype [RCV002356831]\|Hypertrophic cardiomyopathy [RCV004006480]\|Lethal congenital glycogen storage disease of heart [RCV001421523]\|not provided [RCV001638049]	likely benign	7	151675519	151675519	Human	5	name
34900648	CV910875	single nucleotide variant	NM_016203.4(PRKAG2):c.546C>T (p.His182=)	Cardiomyopathy [RCV001190379]\|Cardiovascular phenotype [RCV002348636]\|Hypertrophic cardiomyopathy [RCV004010431]\|Lethal congenital glycogen storage disease of heart [RCV001448276]	likely benign	7	151675558	151675558	Human	5	name
34892979	CV910880	single nucleotide variant	NM_016203.4(PRKAG2):c.471C>A (p.Ser157=)	Cardiomyopathy [RCV001183495]\|Cardiovascular phenotype [RCV004659368]\|Hypertrophic cardiomyopathy [RCV004008385]\|Lethal congenital glycogen storage disease of heart [RCV001219919]	likely benign\|uncertain significance	7	151675633	151675633	Human	5	name
34900604	CV910882	single nucleotide variant	NM_016203.4(PRKAG2):c.426C>G (p.Thr142=)	Cardiomyopathy [RCV001190331]\|Hypertrophic cardiomyopathy [RCV004010426]\|Lethal congenital glycogen storage disease of heart [RCV005094000]	likely benign	7	151781192	151781192	Human	5	name
34898917	CV910902	single nucleotide variant	NM_016203.4(PRKAG2):c.38A>G (p.Asp13Gly)	Cardiomyopathy [RCV001180384]\|Hypertrophic cardiomyopathy [RCV004006647]\|Lethal congenital glycogen storage disease of heart [RCV001875985]\|not provided [RCV005054340]	likely benign\|uncertain significance	7	151876583	151876583	Human	5	name
127272033	CV1074566	single nucleotide variant	NM_016203.4(PRKAG2):c.1641G>T (p.Leu547=)	Cardiomyopathy [RCV005403072]\|Cardiovascular phenotype [RCV002404947]\|Hypertrophic cardiomyopathy [RCV004006900]\|Lethal congenital glycogen storage disease of heart [RCV001405569]	likely benign	7	151560561	151560561	Human	5	name
127241355	CV1074567	single nucleotide variant	NM_016203.4(PRKAG2):c.1614A>G (p.Ala538=)	Cardiovascular phenotype [RCV002404976]\|Hypertrophic cardiomyopathy [RCV004006937]\|Lethal congenital glycogen storage disease of heart [RCV001415754]	likely benign	7	151560588	151560588	Human	3	name
127283591	CV1096187	single nucleotide variant	NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=)	Cardiomyopathy [RCV003532988]\|Hypertrophic cardiomyopathy [RCV004007045]\|Lethal congenital glycogen storage disease of heart [RCV001448617]	likely benign	7	151560573	151560573	Human	5	name
127308563	CV1117706	single nucleotide variant	NM_016203.4(PRKAG2):c.1509G>A (p.Gln503=)	Lethal congenital glycogen storage disease of heart [RCV001456114]	likely benign	7	151564153	151564153	Human	1	name
127293730	CV1117708	single nucleotide variant	NM_016203.4(PRKAG2):c.1113C>T (p.Phe371=)	Cardiovascular phenotype [RCV004037171]\|Lethal congenital glycogen storage disease of heart [RCV001476652]	likely benign	7	151568836	151568836	Human	1	name
127306400	CV1138634	single nucleotide variant	NM_016203.4(PRKAG2):c.1668C>A (p.Leu556=)	Lethal congenital glycogen storage disease of heart [RCV001500232]	likely benign	7	151560534	151560534	Human	1	name
127318832	CV1138635	single nucleotide variant	NM_016203.4(PRKAG2):c.1596G>C (p.Leu532=)	Lethal congenital glycogen storage disease of heart [RCV001483634]	likely benign	7	151560606	151560606	Human	1	name
127323620	CV1160711	single nucleotide variant	NM_016203.4(PRKAG2):c.1635T>C (p.Ile545=)	Cardiomyopathy [RCV001524154]\|Cardiovascular phenotype [RCV004037963]\|Hypertrophic cardiomyopathy [RCV004007260]	likely benign	7	151560567	151560567	Human	4	name
127324347	CV1160716	single nucleotide variant	NM_016203.4(PRKAG2):c.1065A>G (p.Gln355=)	Cardiomyopathy [RCV001524632]	likely benign	7	151570212	151570212	Human	2	name
127323880	CV1160723	single nucleotide variant	NM_016203.4(PRKAG2):c.295C>T (p.Pro99Ser)	Cardiomyopathy [RCV001524310]\|not provided [RCV004697133]	uncertain significance	7	151781323	151781323	Human	2	name
127323263	CV1160724	single nucleotide variant	NM_016203.4(PRKAG2):c.224G>T (p.Gly75Val)	Cardiomyopathy [RCV001523950]	uncertain significance	7	151781394	151781394	Human	2	name
127323788	CV1160725	single nucleotide variant	NM_016203.4(PRKAG2):c.200T>G (p.Phe67Cys)	Cardiomyopathy [RCV001524253]	uncertain significance	7	151781418	151781418	Human	2	name
150410559	CV1176887	single nucleotide variant	NM_016203.4(PRKAG2):c.246G>T (p.Gln82His)	Cardiovascular phenotype [RCV004039277]\|Lethal congenital glycogen storage disease of heart [RCV002032564]\|not provided [RCV001546706]	likely benign\|uncertain significance	7	151781372	151781372	Human	1	name
150490819	CV1274616	single nucleotide variant	NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser)	Hypertrophic cardiomyopathy [RCV004008968]\|Lethal congenital glycogen storage disease of heart [RCV003507382]\|not provided [RCV001700918]	likely benign\|uncertain significance	7	151781365	151781365	Human	3	name
150534103	CV1300409	single nucleotide variant	NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)	Cardiomyopathy [RCV005403110]\|Cardiovascular phenotype [RCV004988729]\|Hypertrophic cardiomyopathy [RCV004009014]\|Lethal congenital glycogen storage disease of heart [RCV001868501]\|not provided [RCV001758537]\|not specified [RCV001779344]	likely benign\|uncertain significance	7	151786474	151786474	Human	5	name
151820720	CV1338251	single nucleotide variant	NM_016203.4(PRKAG2):c.211A>C (p.Ser71Arg)	Lethal congenital glycogen storage disease of heart [RCV001900853]	uncertain significance	7	151781407	151781407	Human	1	name
151766100	CV1348555	single nucleotide variant	NM_016203.4(PRKAG2):c.269C>T (p.Ser90Phe)	Lethal congenital glycogen storage disease of heart [RCV001895873]	uncertain significance	7	151781349	151781349	Human	1	name
151763549	CV1403031	single nucleotide variant	NM_016203.4(PRKAG2):c.187G>A (p.Val63Met)	Cardiomyopathy [RCV003533059]\|Hypertrophic cardiomyopathy [RCV004808163]\|Lethal congenital glycogen storage disease of heart [RCV001914266]	uncertain significance	7	151781431	151781431	Human	5	name
151806185	CV1430023	duplication	NM_016203.4(PRKAG2):c.933dup (p.Gln312fs)	Hypertrophic cardiomyopathy [RCV004011040]\|Lethal congenital glycogen storage disease of heart [RCV001974356]	uncertain significance	7	151576383	151576384	Human	3	name
151797738	CV1446776	single nucleotide variant	NM_016203.4(PRKAG2):c.1050G>A (p.Arg350=)	Lethal congenital glycogen storage disease of heart [RCV002027801]	uncertain significance	7	151572665	151572665	Human	1	name
151753054	CV1480084	single nucleotide variant	NM_016203.4(PRKAG2):c.224G>A (p.Gly75Glu)	Lethal congenital glycogen storage disease of heart [RCV001927718]\|not provided [RCV004693920]	uncertain significance	7	151781394	151781394	Human	1	name
151798301	CV1509134	single nucleotide variant	NM_016203.4(PRKAG2):c.262C>A (p.Pro88Thr)	Lethal congenital glycogen storage disease of heart [RCV001866893]\|not provided [RCV005095344]	uncertain significance	7	151781356	151781356	Human	1	name
152139804	CV1560160	single nucleotide variant	NM_016203.4(PRKAG2):c.1389G>C (p.Val463=)	Lethal congenital glycogen storage disease of heart [RCV002138026]	likely benign	7	151565730	151565730	Human	1	name
152145968	CV1582742	single nucleotide variant	NM_016203.4(PRKAG2):c.1651C>T (p.Leu551=)	Lethal congenital glycogen storage disease of heart [RCV002201244]	likely benign	7	151560551	151560551	Human	1	name
9688933	CV174048	single nucleotide variant	NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)	Cardiomyopathy [RCV000770259]\|Cardiovascular phenotype [RCV000243179]\|Hypertrophic cardiomyopathy [RCV003998246]\|Lethal congenital glycogen storage disease of heart [RCV001085535]\|not provided [RCV000586524]\|not specified [RCV000154321]	benign\|likely benign	7	151565823	151565823	Human	5	name
9689319	CV174053	single nucleotide variant	NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)	Cardiomyopathy [RCV000769256]\|Cardiovascular phenotype [RCV002426748]\|Lethal congenital glycogen storage disease of heart [RCV000206844]\|PRKAG2-related disorder [RCV004544415]\|not provided [RCV001528309]\|not specified [RCV000154803]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151781368	151781368	Human	3	name , alternate_id
155704211	CV1774844	single nucleotide variant	NM_016203.4(PRKAG2):c.119T>C (p.Leu40Pro)	Lethal congenital glycogen storage disease of heart [RCV002300109]	uncertain significance	7	151786537	151786537	Human	1	name
9833371	CV179136	single nucleotide variant	NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)	Cardiomyopathy [RCV001179302]\|Cardiovascular phenotype [RCV002415695]\|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000390669]\|Lethal congenital glycogen storage disease of heart [RCV000278666]\|Wolff-Parkinson-White pattern [RCV001795281]\|not specified [RCV000158992]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151781416	151781416	Human	4	name
9833389	CV179137	single nucleotide variant	NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)	Cardiomyopathy [RCV000769260]\|Cardiovascular phenotype [RCV005259993]\|Hypertrophic cardiomyopathy [RCV003998382]\|Lethal congenital glycogen storage disease of heart [RCV000228178]\|not provided [RCV000159023]	uncertain significance	7	151786525	151786525	Human	5	name
155742880	CV1814098	single nucleotide variant	NM_016203.4(PRKAG2):c.1260C>T (p.Phe420=)	Cardiovascular phenotype [RCV002412585]\|Hypertrophic cardiomyopathy [RCV004808297]\|Lethal congenital glycogen storage disease of heart [RCV003099913]	likely benign	7	151565859	151565859	Human	3	name
155710534	CV1817710	single nucleotide variant	NM_016203.4(PRKAG2):c.1272C>T (p.Asn424=)	Cardiovascular phenotype [RCV002378604]	likely benign	7	151565847	151565847	Human		name
155712367	CV1817956	single nucleotide variant	NM_016203.4(PRKAG2):c.1273C>T (p.Leu425=)	Cardiovascular phenotype [RCV002378835]\|Hypertrophic cardiomyopathy [RCV004007279]	likely benign	7	151565846	151565846	Human	2	name
155708484	CV1833599	single nucleotide variant	NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)	Cardiomyopathy [RCV005403211]\|Cardiovascular phenotype [RCV002403338]\|Hypertrophic cardiomyopathy [RCV004007331]\|Lethal congenital glycogen storage disease of heart [RCV003618007]	uncertain significance	7	151786502	151786502	Human	5	name
155696289	CV1840982	single nucleotide variant	NM_016203.4(PRKAG2):c.108C>G (p.His36Gln)	Cardiovascular phenotype [RCV002443877]	uncertain significance	7	151876513	151876513	Human		name
155672063	CV1849059	single nucleotide variant	NM_016203.4(PRKAG2):c.110T>C (p.Ile37Thr)	Cardiovascular phenotype [RCV002437369]	uncertain significance	7	151876511	151876511	Human		name
155664760	CV1855258	single nucleotide variant	NM_016203.4(PRKAG2):c.100C>T (p.Arg34Cys)	Cardiovascular phenotype [RCV002435214]	uncertain significance	7	151876521	151876521	Human		name
156416773	CV1898122	single nucleotide variant	NM_016203.4(PRKAG2):c.1032T>C (p.His344=)	Lethal congenital glycogen storage disease of heart [RCV002610353]	likely benign	7	151572683	151572683	Human	1	name
156273758	CV1900091	single nucleotide variant	NM_016203.4(PRKAG2):c.235A>G (p.Arg79Gly)	Hypertrophic cardiomyopathy [RCV004808422]\|Lethal congenital glycogen storage disease of heart [RCV003086878]	uncertain significance	7	151781383	151781383	Human	3	name
156152590	CV1934480	single nucleotide variant	NM_016203.4(PRKAG2):c.1095T>C (p.Ser365=)	Hypertrophic cardiomyopathy [RCV004808434]\|Lethal congenital glycogen storage disease of heart [RCV002663945]	likely benign	7	151570182	151570182	Human	3	name
156446736	CV1948089	single nucleotide variant	NM_016203.4(PRKAG2):c.1698A>C (p.Thr566=)	Cardiomyopathy [RCV003533811]\|Cardiovascular phenotype [RCV004244609]\|Lethal congenital glycogen storage disease of heart [RCV003118250]	likely benign	7	151557213	151557213	Human	3	name
156231811	CV1956040	single nucleotide variant	NM_016203.4(PRKAG2):c.1296G>C (p.Thr432=)	Cardiovascular phenotype [RCV004982990]\|Lethal congenital glycogen storage disease of heart [RCV002575901]	likely benign	7	151565823	151565823	Human	1	name
156349650	CV2008594	single nucleotide variant	NM_016203.4(PRKAG2):c.1305C>T (p.Asn435=)	Lethal congenital glycogen storage disease of heart [RCV002720089]\|PRKAG2-related disorder [RCV004545370]	likely benign	7	151565814	151565814	Human	1	name , alternate_id
156213848	CV2038909	single nucleotide variant	NM_016203.4(PRKAG2):c.1332C>T (p.Pro444=)	Lethal congenital glycogen storage disease of heart [RCV002766708]	likely benign	7	151565787	151565787	Human	1	name
156275537	CV2046378	single nucleotide variant	NM_016203.4(PRKAG2):c.1281G>A (p.Glu427=)	Cardiovascular phenotype [RCV004983129]\|Hypertrophic cardiomyopathy [RCV004007597]\|Lethal congenital glycogen storage disease of heart [RCV002770202]	likely benign	7	151565838	151565838	Human	3	name
156375085	CV2049323	single nucleotide variant	NM_016203.4(PRKAG2):c.254C>T (p.Pro85Leu)	Lethal congenital glycogen storage disease of heart [RCV002814625]	uncertain significance	7	151781364	151781364	Human	1	name
156128395	CV2104322	single nucleotide variant	NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)	Cardiomyopathy [RCV003533313]\|Lethal congenital glycogen storage disease of heart [RCV002914455]	uncertain significance	7	151786531	151786531	Human	3	name
156111543	CV2104408	single nucleotide variant	NM_016203.4(PRKAG2):c.254C>A (p.Pro85His)	Cardiovascular phenotype [RCV004066312]\|Hypertrophic cardiomyopathy [RCV004007689]\|Lethal congenital glycogen storage disease of heart [RCV002927453]	uncertain significance	7	151781364	151781364	Human	3	name
156030681	CV2105588	single nucleotide variant	NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)	Hypertrophic cardiomyopathy [RCV004007696]\|Lethal congenital glycogen storage disease of heart [RCV002910052]	benign\|uncertain significance	7	151781329	151781329	Human	3	name
156023338	CV2105908	single nucleotide variant	NM_016203.4(PRKAG2):c.1068A>G (p.Glu356=)	Lethal congenital glycogen storage disease of heart [RCV002923174]	likely benign	7	151570209	151570209	Human	1	name
156004793	CV2127325	single nucleotide variant	NM_016203.4(PRKAG2):c.1704G>C (p.Thr568=)	Lethal congenital glycogen storage disease of heart [RCV002947964]	likely benign	7	151557207	151557207	Human	1	name
156227477	CV2164789	single nucleotide variant	NM_016203.4(PRKAG2):c.1044A>C (p.Thr348=)	Lethal congenital glycogen storage disease of heart [RCV003042959]	likely benign	7	151572671	151572671	Human	1	name
156321241	CV2166537	single nucleotide variant	NM_016203.4(PRKAG2):c.238G>A (p.Gly80Ser)	Lethal congenital glycogen storage disease of heart [RCV003029176]	uncertain significance	7	151781380	151781380	Human	1	name
156067869	CV2167054	single nucleotide variant	NM_016203.4(PRKAG2):c.253C>A (p.Pro85Thr)	Hypertrophic cardiomyopathy [RCV004009268]\|Lethal congenital glycogen storage disease of heart [RCV003019946]	likely benign\|uncertain significance	7	151781365	151781365	Human	3	name
156087912	CV2170708	single nucleotide variant	NM_016203.4(PRKAG2):c.1605A>G (p.Val535=)	Lethal congenital glycogen storage disease of heart [RCV003038112]	likely benign	7	151560597	151560597	Human	1	name
156299334	CV2191327	single nucleotide variant	NM_016203.4(PRKAG2):c.1128C>T (p.Ser376=)	Lethal congenital glycogen storage disease of heart [RCV003061885]	likely benign	7	151568821	151568821	Human	1	name
11090030	CV229561	single nucleotide variant	NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=)	Cardiomyopathy [RCV000771955]\|Cardiovascular phenotype [RCV003165531]\|Hypertrophic cardiomyopathy [RCV003997712]\|Lethal congenital glycogen storage disease of heart [RCV000866432]\|not specified [RCV000215548]	likely benign	7	151564210	151564210	Human	5	name
11095029	CV229562	single nucleotide variant	NM_016203.4(PRKAG2):c.1449T>C (p.Ala483=)	Lethal congenital glycogen storage disease of heart [RCV003617804]\|not specified [RCV000221798]	likely benign	7	151564213	151564213	Human	1	name
11093052	CV229568	single nucleotide variant	NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)	Lethal congenital glycogen storage disease of heart [RCV002518189]\|not specified [RCV000219304]	uncertain significance	7	151786519	151786519	Human	1	name
11350501	CV240007	single nucleotide variant	NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=)	Cardiomyopathy [RCV001184820]\|Cardiovascular phenotype [RCV003298305]\|Hypertrophic cardiomyopathy [RCV003998883]\|Lethal congenital glycogen storage disease of heart [RCV000232221]\|not provided [RCV001722260]	likely benign\|uncertain significance	7	151565784	151565784	Human	5	name
11350493	CV240013	single nucleotide variant	NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp)	Cardiomyopathy [RCV003532066]\|Hypertrophic cardiomyopathy [RCV003998884]\|Lethal congenital glycogen storage disease of heart [RCV000231392]	uncertain significance	7	151786495	151786495	Human	5	name
402494220	CV2855893	single nucleotide variant	NM_016203.4(PRKAG2):c.157G>A (p.Glu53Lys)	Lethal congenital glycogen storage disease of heart [RCV003508006]	uncertain significance	7	151786499	151786499	Human	1	name
402498054	CV2877065	single nucleotide variant	NM_016203.4(PRKAG2):c.1551G>A (p.Leu517=)	Lethal congenital glycogen storage disease of heart [RCV003508407]	likely benign	7	151564111	151564111	Human	1	name
402485357	CV2908034	single nucleotide variant	NM_016203.4(PRKAG2):c.1464T>C (p.Asn488=)	Lethal congenital glycogen storage disease of heart [RCV003506922]	likely benign	7	151564198	151564198	Human	1	name
402486779	CV2916678	deletion	NM_016203.4(PRKAG2):c.388del (p.Ser130fs)	Lethal congenital glycogen storage disease of heart [RCV003507070]	uncertain significance	7	151781230	151781230	Human	1	name
402485862	CV2918920	single nucleotide variant	NM_016203.4(PRKAG2):c.263C>T (p.Pro88Leu)	Lethal congenital glycogen storage disease of heart [RCV003506974]	uncertain significance	7	151781355	151781355	Human	1	name
405065645	CV2934889	single nucleotide variant	NM_016203.4(PRKAG2):c.1689A>G (p.Gln563=)	Cardiomyopathy [RCV003532795]	likely benign	7	151557222	151557222	Human	2	name
405065652	CV2934890	single nucleotide variant	NM_016203.4(PRKAG2):c.1686A>G (p.Lys562=)	Cardiomyopathy [RCV003532796]	likely benign	7	151557225	151557225	Human	2	name
405065739	CV2934897	single nucleotide variant	NM_016203.4(PRKAG2):c.1071A>G (p.Thr357=)	Cardiomyopathy [RCV003532803]	likely benign	7	151570206	151570206	Human	2	name
405065813	CV2934904	single nucleotide variant	NM_016203.4(PRKAG2):c.206C>G (p.Pro69Arg)	Cardiomyopathy [RCV003532810]	uncertain significance	7	151781412	151781412	Human	2	name
405129520	CV2943866	single nucleotide variant	NM_016203.4(PRKAG2):c.1200C>G (p.Thr400=)	Lethal congenital glycogen storage disease of heart [RCV003618124]	likely benign	7	151568749	151568749	Human	1	name
405131979	CV2965573	single nucleotide variant	NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)	Lethal congenital glycogen storage disease of heart [RCV003618409]	uncertain significance	7	151786511	151786511	Human	1	name
405132823	CV2983953	single nucleotide variant	NM_016203.4(PRKAG2):c.1594C>T (p.Leu532=)	Lethal congenital glycogen storage disease of heart [RCV003618474]	likely benign	7	151560608	151560608	Human	1	name
405124182	CV3016113	single nucleotide variant	NM_016203.4(PRKAG2):c.1707G>A (p.Glu569=)	Lethal congenital glycogen storage disease of heart [RCV003617441]	likely benign	7	151557204	151557204	Human	1	name
11647906	CV302210	indel	NM_016203.4(PRKAG2):c.1021_1022delinsGT	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000333663]\|Lethal congenital glycogen storage disease of heart [RCV000371922]\|Wolff-Parkinson-White pattern [RCV001795978]	uncertain significance	7	151556179	151556180	Human		name
405125444	CV3025854	single nucleotide variant	NM_016203.4(PRKAG2):c.129C>A (p.Phe43Leu)	Lethal congenital glycogen storage disease of heart [RCV003617587]	uncertain significance	7	151786527	151786527	Human	1	name
405136582	CV3052668	single nucleotide variant	NM_016203.4(PRKAG2):c.1197T>C (p.Leu399=)	Lethal congenital glycogen storage disease of heart [RCV003618878]	likely benign	7	151568752	151568752	Human	1	name
11609261	CV305444	single nucleotide variant	NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)	Cardiomyopathy [RCV000776284]\|Cardiovascular phenotype [RCV002429322]\|Hypertrophic cardiomyopathy 6 [RCV000366118]\|Hypertrophic cardiomyopathy [RCV004806286]\|Lethal congenital glycogen storage disease of heart [RCV000310891]\|Wolff-Parkinson-White pattern [RCV000390159]\|not provided [RCV001706595]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151781370	151781370	Human	7	name
405137183	CV3061263	deletion	NM_016203.4(PRKAG2):c.593del (p.Pro198fs)	Lethal congenital glycogen storage disease of heart [RCV003618934]	uncertain significance	7	151675511	151675511	Human	1	name
405137171	CV3064615	single nucleotide variant	NM_016203.4(PRKAG2):c.1383T>G (p.Pro461=)	Lethal congenital glycogen storage disease of heart [RCV003618933]	likely benign	7	151565736	151565736	Human	1	name
405138506	CV3073899	single nucleotide variant	NM_016203.4(PRKAG2):c.1425A>G (p.Lys475=)	Lethal congenital glycogen storage disease of heart [RCV003619065]	likely benign	7	151565358	151565358	Human	1	name
11599761	CV310328	single nucleotide variant	NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)	Cardiomyopathy [RCV001187909]\|Cardiovascular phenotype [RCV002429323]\|Hypertrophic cardiomyopathy 6 [RCV000377613]\|Hypertrophic cardiomyopathy [RCV003995904]\|Lethal congenital glycogen storage disease of heart [RCV001488798]\|Wolff-Parkinson-White pattern [RCV000267792]\|not specified [RCV003235198]	likely benign\|uncertain significance	7	151781394	151781394	Human	7	name
405179168	CV3147345	single nucleotide variant	NM_016203.4(PRKAG2):c.182G>T (p.Arg61Leu)	Lethal congenital glycogen storage disease of heart [RCV003842247]	uncertain significance	7	151786474	151786474	Human	1	name
405235634	CV3166302	single nucleotide variant	NM_016203.4(PRKAG2):c.134T>A (p.Met45Lys)	Lethal congenital glycogen storage disease of heart [RCV003853751]	uncertain significance	7	151786522	151786522	Human	1	name
405254664	CV3175443	single nucleotide variant	NM_016203.4(PRKAG2):c.1554G>A (p.Glu518=)	Hypertrophic cardiomyopathy [RCV004006170]\|Lethal congenital glycogen storage disease of heart [RCV003871710]	likely benign	7	151564108	151564108	Human	3	name
405734776	CV3229682	single nucleotide variant	NM_016203.4(PRKAG2):c.1188T>G (p.Leu396=)	Hypertrophic cardiomyopathy [RCV004014249]	likely benign	7	151568761	151568761	Human	2	name
405735006	CV3229708	single nucleotide variant	NM_016203.4(PRKAG2):c.242C>T (p.Pro81Leu)	Hypertrophic cardiomyopathy [RCV004014275]	uncertain significance	7	151781376	151781376	Human	2	name
405695945	CV3230221	single nucleotide variant	NM_016203.4(PRKAG2):c.147C>G (p.Asp49Glu)	Hypertrophic cardiomyopathy [RCV004008140]	uncertain significance	7	151786509	151786509	Human	2	name
405723495	CV3230322	single nucleotide variant	NM_016203.4(PRKAG2):c.111T>G (p.Ile37Met)	Hypertrophic cardiomyopathy [RCV004013074]	uncertain significance	7	151876510	151876510	Human	2	name
405723515	CV3230324	single nucleotide variant	NM_016203.4(PRKAG2):c.1275G>A (p.Leu425=)	Hypertrophic cardiomyopathy [RCV004013076]	likely benign	7	151565844	151565844	Human	2	name
405737087	CV3230679	single nucleotide variant	NM_016203.4(PRKAG2):c.213C>G (p.Ser71Arg)	Hypertrophic cardiomyopathy [RCV004014425]	uncertain significance	7	151781405	151781405	Human	2	name
405720109	CV3231302	single nucleotide variant	NM_016203.4(PRKAG2):c.110T>G (p.Ile37Ser)	Hypertrophic cardiomyopathy [RCV004012708]	uncertain significance	7	151876511	151876511	Human	2	name
405732042	CV3231555	single nucleotide variant	NM_016203.4(PRKAG2):c.109A>C (p.Ile37Leu)	Hypertrophic cardiomyopathy [RCV004013955]	uncertain significance	7	151876512	151876512	Human	2	name
405757098	CV3233050	single nucleotide variant	NM_016203.4(PRKAG2):c.140T>A (p.Leu47His)	Hypertrophic cardiomyopathy [RCV004017002]	uncertain significance	7	151786516	151786516	Human	2	name
405751684	CV3234087	single nucleotide variant	NM_016203.4(PRKAG2):c.179C>T (p.Ser60Phe)	Cardiovascular phenotype [RCV004661826]\|Hypertrophic cardiomyopathy [RCV004016316]	uncertain significance	7	151786477	151786477	Human	2	name
405743026	CV3234238	deletion	NM_016203.4(PRKAG2):c.-5_1del (p.Met1del)	Hypertrophic cardiomyopathy [RCV004015296]	uncertain significance	7	151876620	151876625	Human	2	name
405753062	CV3234463	single nucleotide variant	NM_016203.4(PRKAG2):c.1014T>A (p.Ile338=)	Hypertrophic cardiomyopathy [RCV004016513]	likely benign	7	151572701	151572701	Human	2	name
405708268	CV3384334	single nucleotide variant	NM_016203.4(PRKAG2):c.190G>C (p.Asp64His)	Cardiovascular phenotype [RCV004522064]	uncertain significance	7	151781428	151781428	Human		name
407513022	CV3464308	single nucleotide variant	NM_016203.4(PRKAG2):c.203G>T (p.Gly68Val)	Cardiovascular phenotype [RCV004648631]	uncertain significance	7	151781415	151781415	Human		name
596943381	CV3546676	single nucleotide variant	NM_016203.4(PRKAG2):c.181C>G (p.Arg61Gly)	Hypertrophic cardiomyopathy [RCV004807801]	uncertain significance	7	151786475	151786475	Human	2	name
597706423	CV3581464	single nucleotide variant	NM_016203.4(PRKAG2):c.1407T>G (p.Val469=)	Cardiovascular phenotype [RCV004989418]	likely benign	7	151565376	151565376	Human		name
597706438	CV3581468	single nucleotide variant	NM_016203.4(PRKAG2):c.194G>T (p.Ser65Ile)	Cardiovascular phenotype [RCV004989421]	uncertain significance	7	151781424	151781424	Human		name
597706467	CV3581473	single nucleotide variant	NM_016203.4(PRKAG2):c.1158C>A (p.Pro386=)	Cardiovascular phenotype [RCV004989426]	likely benign	7	151568791	151568791	Human		name
597706474	CV3581474	single nucleotide variant	NM_016203.4(PRKAG2):c.1170T>C (p.Pro390=)	Cardiovascular phenotype [RCV004989427]	likely benign	7	151568779	151568779	Human		name
597706484	CV3581476	single nucleotide variant	NM_016203.4(PRKAG2):c.1602G>A (p.Val534=)	Cardiovascular phenotype [RCV004989429]	likely benign	7	151560600	151560600	Human		name
597706489	CV3581477	single nucleotide variant	NM_016203.4(PRKAG2):c.232T>A (p.Ser78Thr)	Cardiovascular phenotype [RCV004989430]	uncertain significance	7	151781386	151781386	Human		name
597706492	CV3581478	single nucleotide variant	NM_016203.4(PRKAG2):c.282G>C (p.Arg94Ser)	Cardiovascular phenotype [RCV004989431]	uncertain significance	7	151781336	151781336	Human		name
597706515	CV3581483	single nucleotide variant	NM_016203.4(PRKAG2):c.205C>T (p.Pro69Ser)	Cardiovascular phenotype [RCV004989436]	likely benign	7	151781413	151781413	Human		name
597706519	CV3581484	single nucleotide variant	NM_016203.4(PRKAG2):c.1128C>G (p.Ser376=)	Cardiovascular phenotype [RCV004989437]	likely benign	7	151568821	151568821	Human		name
12839219	CV369063	single nucleotide variant	NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=)	Cardiomyopathy [RCV003532105]\|Cardiovascular phenotype [RCV003168663]\|Hypertrophic cardiomyopathy [RCV004000427]\|Lethal congenital glycogen storage disease of heart [RCV000883013]\|not specified [RCV000428406]	likely benign	7	151564183	151564183	Human	5	name
12847549	CV369065	single nucleotide variant	NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=)	Cardiomyopathy [RCV001188684]\|Cardiovascular phenotype [RCV003343817]\|Hypertrophic cardiomyopathy [RCV004000372]\|Lethal congenital glycogen storage disease of heart [RCV001426952]\|not specified [RCV000443686]	likely benign	7	151572695	151572695	Human	5	name
12843819	CV369634	single nucleotide variant	NM_016203.4(PRKAG2):c.1129T>C (p.Leu377=)	Hypertrophic cardiomyopathy [RCV004000410]\|not specified [RCV000436914]	likely benign	7	151568820	151568820	Human	2	name
597903244	CV3741574	single nucleotide variant	NM_016203.4(PRKAG2):c.1158C>G (p.Pro386=)	Lethal congenital glycogen storage disease of heart [RCV005072545]	likely benign	7	151568791	151568791	Human	1	name
597849237	CV3784312	single nucleotide variant	NM_016203.4(PRKAG2):c.1320T>C (p.His440=)	Cardiovascular phenotype [RCV005258007]\|Lethal congenital glycogen storage disease of heart [RCV005124600]	likely benign	7	151565799	151565799	Human	1	name
597846159	CV3786669	single nucleotide variant	NM_016203.4(PRKAG2):c.188T>C (p.Val63Ala)	Lethal congenital glycogen storage disease of heart [RCV005121760]	uncertain significance	7	151781430	151781430	Human	1	name
597877412	CV3796424	single nucleotide variant	NM_016203.4(PRKAG2):c.1185A>G (p.Ala395=)	Lethal congenital glycogen storage disease of heart [RCV005152507]	likely benign	7	151568764	151568764	Human	1	name
597925658	CV3856044	single nucleotide variant	NM_016203.4(PRKAG2):c.1182T>C (p.Asn394=)	Lethal congenital glycogen storage disease of heart [RCV005200289]	likely benign	7	151568767	151568767	Human	1	name
598180622	CV3904431	single nucleotide variant	NM_016203.4(PRKAG2):c.286A>G (p.Lys96Glu)	Cardiovascular phenotype [RCV005265051]	uncertain significance	7	151781332	151781332	Human		name
598180639	CV3904434	single nucleotide variant	NM_016203.4(PRKAG2):c.1038T>C (p.Ile346=)	Cardiovascular phenotype [RCV005265054]	likely benign	7	151572677	151572677	Human		name
598180642	CV3904435	single nucleotide variant	NM_016203.4(PRKAG2):c.1560C>A (p.Ile520=)	Cardiovascular phenotype [RCV005265055]	likely benign	7	151564102	151564102	Human		name
12883666	CV395888	single nucleotide variant	NM_016203.4(PRKAG2):c.1191T>C (p.Tyr397=)	Lethal congenital glycogen storage disease of heart [RCV001433580]	likely benign	7	151568758	151568758	Human	1	name
616934827	CV4010055	single nucleotide variant	NM_016203.4(PRKAG2):c.1323A>G (p.Pro441=)	Cardiomyopathy [RCV005401213]	likely benign	7	151565796	151565796	Human	2	name
616934863	CV4010108	single nucleotide variant	NM_016203.4(PRKAG2):c.272C>T (p.Ala91Val)	Cardiomyopathy [RCV005401266]	uncertain significance	7	151781346	151781346	Human	2	name
8603026	CV45357	single nucleotide variant	NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)	Cardiomyopathy [RCV000030375]\|Cardiovascular phenotype [RCV000250418]\|Hypertrophic cardiomyopathy 6 [RCV000281134]\|Hypertrophic cardiomyopathy [RCV003996132]\|Lethal congenital glycogen storage disease of heart [RCV000228616]\|Wolff-Parkinson-White pattern [RCV000316423]\|not provided [RCV001528400]\|no ... (more) t specified [RCV000038922]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151560609	151560609	Human	7	name
13539612	CV501965	single nucleotide variant	NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)	Cardiomyopathy [RCV001182035]\|Cardiovascular phenotype [RCV002395594]\|Hypertrophic cardiomyopathy [RCV004002557]\|Lethal congenital glycogen storage disease of heart [RCV000863253]\|not provided [RCV001530044]\|not specified [RCV000613519]	benign\|likely benign	7	151560543	151560543	Human	5	name
13525969	CV501993	single nucleotide variant	NM_016203.4(PRKAG2):c.1620T>C (p.Ser540=)	Cardiovascular phenotype [RCV002404621]\|Hypertrophic cardiomyopathy [RCV004002494]\|Lethal congenital glycogen storage disease of heart [RCV001486170]\|not specified [RCV000603583]	likely benign	7	151560582	151560582	Human	3	name
13527887	CV509879	single nucleotide variant	NM_016203.4(PRKAG2):c.1116T>C (p.Asp372=)	Cardiovascular phenotype [RCV000620328]\|Hypertrophic cardiomyopathy [RCV004807045]\|Lethal congenital glycogen storage disease of heart [RCV003617855]	likely benign	7	151568833	151568833	Human	3	name
8608549	CV54850	single nucleotide variant	NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=)	Cardiomyopathy [RCV003149637]\|Hypertrophic cardiomyopathy [RCV004806035]\|Lethal congenital glycogen storage disease of heart [RCV001400734]\|not specified [RCV000038903]	likely benign	7	151570206	151570206	Human	5	name
8608550	CV54851	single nucleotide variant	NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)	Cardiomyopathy [RCV001170701]\|Cardiovascular phenotype [RCV000253483]\|Hypertrophic cardiomyopathy 6 [RCV001158335]\|Hypertrophic cardiomyopathy [RCV003996410]\|Lethal congenital glycogen storage disease of heart [RCV001083766]\|Wolff-Parkinson-White pattern [RCV001158336]\|not provided [RCV000724130]\|no ... (more) t specified [RCV000038904]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151570179	151570179	Human	7	name
8608558	CV54859	single nucleotide variant	NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)	Cardiomyopathy [RCV000770265]\|Cardiovascular phenotype [RCV002381313]\|Lethal congenital glycogen storage disease of heart [RCV001087117]\|Primary dilated cardiomyopathy [RCV004017323]\|not provided [RCV000766630]\|not specified [RCV000038913]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151786526	151786526	Human	4	name
8608562	CV54863	single nucleotide variant	NM_016203.4(PRKAG2):c.1440T>C (p.Asn480=)	Cardiovascular phenotype [RCV002390165]\|Lethal congenital glycogen storage disease of heart [RCV002513515]\|not specified [RCV000038917]	likely benign	7	151564222	151564222	Human	1	name
8608566	CV54867	single nucleotide variant	NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=)	Cardiomyopathy [RCV000776063]\|Cardiovascular phenotype [RCV000250289]\|Hypertrophic cardiomyopathy 6 [RCV000388465]\|Hypertrophic cardiomyopathy [RCV003125869]\|Lethal congenital glycogen storage disease of heart [RCV000331581]\|Wolff-Parkinson-White pattern [RCV000277741]\|not provided [RCV000675708]\|no ... (more) t specified [RCV000038923]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	151560579	151560579	Human	7	name
8608567	CV54868	single nucleotide variant	NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)	Cardiomyopathy [RCV001178859]\|Cardiovascular phenotype [RCV002390166]\|Hypertrophic cardiomyopathy [RCV003996411]\|Lethal congenital glycogen storage disease of heart [RCV000463364]\|not provided [RCV001711152]\|not specified [RCV000038924]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151560558	151560558	Human	5	name
8608568	CV54869	single nucleotide variant	NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)	Cardiomyopathy [RCV001178860]\|Cardiovascular phenotype [RCV004018882]\|Hypertrophic cardiomyopathy [RCV001270142]\|Lethal congenital glycogen storage disease of heart [RCV000698517]\|PRKAG2-related disorder [RCV004534820]\|not provided [RCV002260602]\|not specified [ ... (more) RCV000038925]	likely benign\|uncertain significance	7	151786490	151786490	Human	5	name , alternate_id
8608570	CV54871	single nucleotide variant	NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)	Cardiomyopathy [RCV000770256]\|Cardiovascular phenotype [RCV000243867]\|Hypertrophic cardiomyopathy 6 [RCV001162962]\|Hypertrophic cardiomyopathy [RCV003996413]\|Lethal congenital glycogen storage disease of heart [RCV000226450]\|Wolff-Parkinson-White pattern [RCV001162963]\|not provided [RCV001727538]\|no ... (more) t specified [RCV000038927]	benign\|likely benign	7	151557207	151557207	Human	7	name
8608571	CV54872	single nucleotide variant	NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn)	Cardiomyopathy [RCV005402821]\|Cardiovascular phenotype [RCV004018883]\|Hypertrophic cardiomyopathy [RCV003996414]\|Lethal congenital glycogen storage disease of heart [RCV001371678]\|not specified [RCV000038928]	uncertain significance	7	151786470	151786470	Human	5	name
8608572	CV54873	single nucleotide variant	NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)	Cardiomyopathy [RCV001181340]\|Cardiovascular phenotype [RCV003162341]\|Hypertrophic cardiomyopathy [RCV003996415]\|Lethal congenital glycogen storage disease of heart [RCV002513516]\|not provided [RCV000766631]\|not specified [RCV000038929]	likely benign\|uncertain significance	7	151781412	151781412	Human	5	name
8608575	CV54876	single nucleotide variant	NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)	Cardiomyopathy [RCV000771174]\|Cardiovascular phenotype [RCV000620131]\|Heart failure [RCV000853032]\|Hypertrophic cardiomyopathy 6 [RCV001161648]\|Hypertrophic cardiomyopathy [RCV004806037]\|Lethal congenital glycogen storage disease of heart [RCV000474056]\|Wolff-Parkinson-White pattern [RCV001158447]\|n ... (more) ot provided [RCV001529077]\|not specified [RCV000038932]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151781371	151781371	Human	9	name
8608576	CV54877	single nucleotide variant	NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)	Cardiomyopathy [RCV000771891]\|Cardiovascular phenotype [RCV000618885]\|Lethal congenital glycogen storage disease of heart [RCV000464971]\|not provided [RCV001719755]\|not specified [RCV000038933]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151781367	151781367	Human	3	name
8654920	CV54890	duplication	NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)	Cardiomyopathy [RCV001178861]\|Cardiovascular phenotype [RCV003343614]\|Hypertrophic cardiomyopathy [RCV004017326]\|Lethal congenital glycogen storage disease of heart [RCV000807791]\|not provided [RCV004589532]	uncertain significance	7	151675510	151675511	Human	5	name
14688975	CV614948	single nucleotide variant	NM_016203.4(PRKAG2):c.1587C>G (p.Val529=)	Cardiomyopathy [RCV000770257]\|Lethal congenital glycogen storage disease of heart [RCV002533958]	likely benign\|uncertain significance	7	151560615	151560615	Human	3	name
14688976	CV614949	single nucleotide variant	NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=)	Cardiomyopathy [RCV000770261]\|Cardiovascular phenotype [RCV003166032]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151570224	151570224	Human	2	name
14690088	CV617359	single nucleotide variant	NM_016203.4(PRKAG2):c.1662G>C (p.Leu554=)	Cardiomyopathy [RCV000772994]	likely benign	7	151560540	151560540	Human	2	name
14690344	CV617360	single nucleotide variant	NM_016203.4(PRKAG2):c.1482G>A (p.Val494=)	Cardiomyopathy [RCV000774247]\|Hypertrophic cardiomyopathy [RCV004001372]	likely benign	7	151564180	151564180	Human	4	name
14690153	CV617361	single nucleotide variant	NM_016203.4(PRKAG2):c.1314C>T (p.Phe438=)	Cardiomyopathy [RCV000773493]\|Hypertrophic cardiomyopathy [RCV004000016]	likely benign	7	151565805	151565805	Human	4	name
14690275	CV617362	single nucleotide variant	NM_016203.4(PRKAG2):c.1158C>T (p.Pro386=)	Cardiomyopathy [RCV000774091]\|Lethal congenital glycogen storage disease of heart [RCV000981157]	likely benign	7	151568791	151568791	Human	3	name
14690005	CV621264	single nucleotide variant	NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)	Cardiomyopathy [RCV003532259]\|Cardiovascular phenotype [RCV004649317]\|Hypertrophic cardiomyopathy [RCV004001523]\|Lethal congenital glycogen storage disease of heart [RCV001360947]\|not provided [RCV003128695]\|not specified [RCV000780647]	uncertain significance	7	151876515	151876515	Human	5	name
14695915	CV622378	single nucleotide variant	NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr)	Cardiomyopathy [RCV001186583]\|Hypertrophic cardiomyopathy 6 [RCV000785136]\|Lethal congenital glycogen storage disease of heart [RCV004796311]	uncertain significance	7	151781344	151781344	Human	4	name
14711420	CV655790	single nucleotide variant	NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=)	Cardiomyopathy [RCV001177450]\|Cardiovascular phenotype [RCV002415957]\|Hypertrophic cardiomyopathy [RCV004002879]\|Lethal congenital glycogen storage disease of heart [RCV001081016]\|not provided [RCV000828037]	likely benign	7	151565865	151565865	Human	5	name
15108101	CV692187	single nucleotide variant	NM_016203.4(PRKAG2):c.1422C>T (p.Ser474=)	Lethal congenital glycogen storage disease of heart [RCV001435793]	likely benign	7	151565361	151565361	Human	1	name
15199676	CV766182	single nucleotide variant	NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=)	Cardiovascular phenotype [RCV002382128]\|Hypertrophic cardiomyopathy [RCV004003271]\|Lethal congenital glycogen storage disease of heart [RCV001471993]	likely benign	7	151565748	151565748	Human	3	name
15187626	CV766183	single nucleotide variant	NM_016203.4(PRKAG2):c.1215C>T (p.Leu405=)	Lethal congenital glycogen storage disease of heart [RCV001419367]	likely benign	7	151568734	151568734	Human	1	name
15099665	CV766184	single nucleotide variant	NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=)	Cardiomyopathy [RCV001185772]\|Hypertrophic cardiomyopathy [RCV004003283]\|Lethal congenital glycogen storage disease of heart [RCV001417967]	likely benign	7	151568749	151568749	Human	5	name
21069669	CV795997	single nucleotide variant	NM_016203.4(PRKAG2):c.236G>A (p.Arg79Lys)	not provided [RCV000998954]	uncertain significance	7	151781382	151781382	Human		name
26904140	CV833376	single nucleotide variant	NM_016203.4(PRKAG2):c.107A>G (p.His36Arg)	Lethal congenital glycogen storage disease of heart [RCV001050672]	uncertain significance	7	151876514	151876514	Human	1	name
28905458	CV897697	single nucleotide variant	NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala)	Cardiovascular phenotype [RCV004032834]\|Hypertrophic cardiomyopathy 6 [RCV001158445]\|Wolff-Parkinson-White pattern [RCV001158446]	uncertain significance	7	151781340	151781340	Human	2	name
28869645	CV897698	single nucleotide variant	NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)	Cardiomyopathy [RCV001526132]\|Hypertrophic cardiomyopathy 6 [RCV001163176]\|Hypertrophic cardiomyopathy [RCV004000264]\|Lethal congenital glycogen storage disease of heart [RCV001224536]\|Wolff-Parkinson-White pattern [RCV001163175]	uncertain significance	7	151786537	151786537	Human	7	name
28894756	CV903887	single nucleotide variant	NM_016203.4(PRKAG2):c.250C>G (p.Arg84Gly)	Cardiomyopathy [RCV001170707]	uncertain significance	7	151781368	151781368	Human	2	name
34899029	CV910828	single nucleotide variant	NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=)	Cardiomyopathy [RCV001187742]\|Cardiovascular phenotype [RCV002402549]\|Hypertrophic cardiomyopathy [RCV004008731]\|Lethal congenital glycogen storage disease of heart [RCV003617910]	likely benign	7	151564102	151564102	Human	5	name
34893578	CV910832	single nucleotide variant	NM_016203.4(PRKAG2):c.1413T>C (p.Asp471=)	Cardiomyopathy [RCV001176654]\|Hypertrophic cardiomyopathy [RCV004006314]	likely benign	7	151565370	151565370	Human	4	name
34892343	CV910837	single nucleotide variant	NM_016203.4(PRKAG2):c.1347G>A (p.Leu449=)	Cardiomyopathy [RCV001175719]	likely benign	7	151565772	151565772	Human	2	name
34892587	CV910839	single nucleotide variant	NM_016203.4(PRKAG2):c.1311C>T (p.Ala437=)	Cardiomyopathy [RCV001183182]\|Cardiovascular phenotype [RCV002379707]\|Lethal congenital glycogen storage disease of heart [RCV003617905]	likely benign	7	151565808	151565808	Human	3	name
34897902	CV910841	single nucleotide variant	NM_016203.4(PRKAG2):c.1248A>G (p.Pro416=)	Cardiomyopathy [RCV001186800]	likely benign	7	151565871	151565871	Human	2	name
34895496	CV910886	single nucleotide variant	NM_016203.4(PRKAG2):c.286A>C (p.Lys96Gln)	Cardiomyopathy [RCV001185385]	uncertain significance	7	151781332	151781332	Human	2	name
34889641	CV910887	single nucleotide variant	NM_016203.4(PRKAG2):c.265A>G (p.Met89Val)	Cardiomyopathy [RCV001181588]\|Cardiovascular phenotype [RCV004986889]\|Hypertrophic cardiomyopathy [RCV004006748]	likely benign	7	151781353	151781353	Human	4	name
34901302	CV910889	single nucleotide variant	NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser)	Cardiomyopathy [RCV001191484]\|Cardiovascular phenotype [RCV004033429]\|Lethal congenital glycogen storage disease of heart [RCV002560116]	uncertain significance	7	151781422	151781422	Human	3	name
34898458	CV910891	single nucleotide variant	NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)	Cardiomyopathy [RCV001187235]\|Hypertrophic cardiomyopathy [RCV004008683]\|Lethal congenital glycogen storage disease of heart [RCV001301855]	uncertain significance	7	151786475	151786475	Human	5	name
34901476	CV910892	single nucleotide variant	NM_016203.4(PRKAG2):c.173A>T (p.His58Leu)	Cardiomyopathy [RCV001191738]	uncertain significance	7	151786483	151786483	Human	2	name
34898965	CV910896	single nucleotide variant	NM_016203.4(PRKAG2):c.137C>A (p.Pro46Gln)	Cardiomyopathy [RCV001187706]\|Cardiovascular phenotype [RCV004659372]\|Lethal congenital glycogen storage disease of heart [RCV003770103]	likely benign\|uncertain significance	7	151786519	151786519	Human	3	name
34901725	CV910898	single nucleotide variant	NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)	Cardiomyopathy [RCV001192150]\|Cardiovascular phenotype [RCV003293977]\|Hypertrophic cardiomyopathy [RCV004807455]\|Lethal congenital glycogen storage disease of heart [RCV001347678]	uncertain significance	7	151876508	151876508	Human	5	name
34898650	CV910899	single nucleotide variant	NM_016203.4(PRKAG2):c.103G>T (p.Val35Leu)	Cardiomyopathy [RCV001187424]	uncertain significance	7	151876518	151876518	Human	2	name
38477561	CV933794	single nucleotide variant	NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)	Cardiomyopathy [RCV001806042]\|Cardiovascular phenotype [RCV005262266]\|Hypertrophic cardiomyopathy [RCV004010641]\|Lethal congenital glycogen storage disease of heart [RCV001205143]	uncertain significance	7	151781343	151781343	Human	5	name
38483152	CV945534	single nucleotide variant	NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg)	Lethal congenital glycogen storage disease of heart [RCV001235808]	uncertain significance	7	151781373	151781373	Human	1	name
38473558	CV945535	single nucleotide variant	NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)	Cardiovascular phenotype [RCV004033140]\|Hypertrophic cardiomyopathy [RCV004004838]\|Lethal congenital glycogen storage disease of heart [RCV001231860]\|PRKAG2-related disorder [RCV004528428]	uncertain significance	7	151786508	151786508	Human	3	name , alternate_id
126753745	CV992207	single nucleotide variant	NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)	Cardiovascular phenotype [RCV003346445]\|Lethal congenital glycogen storage disease of heart [RCV001307460]	uncertain significance	7	151781326	151781326	Human	1	name
126733805	CV992209	single nucleotide variant	NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)	Cardiovascular phenotype [RCV004987026]\|Hypertrophic cardiomyopathy 6 [RCV003448391]\|Lethal congenital glycogen storage disease of heart [RCV001294807]\|not provided [RCV003313208]	uncertain significance	7	151786509	151786509	Human	2	name
9690011	CV174052	single nucleotide variant	NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser)	Cardiomyopathy [RCV001177593]\|Cardiovascular phenotype [RCV002336332]\|Lethal congenital glycogen storage disease of heart [RCV000457420]\|not provided [RCV001719977]\|not specified [RCV000155655]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151675632	151675632	Human	3	name
9691184	CV174185	single nucleotide variant	NM_016203.4(PRKAG2):c.826A>G (p.Thr276Ala)	not specified [RCV000156892]	uncertain significance	7	151595383	151595383	Human		name
9688064	CV174186	single nucleotide variant	NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)	Cardiomyopathy [RCV001170705]\|Cardiovascular phenotype [RCV000620500]\|Lethal congenital glycogen storage disease of heart [RCV001087682]\|not provided [RCV000675710]\|not specified [RCV000151679]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151675583	151675583	Human	3	name
9833396	CV179117	single nucleotide variant	NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val)	Cardiovascular phenotype [RCV000618394]\|Lethal congenital glycogen storage disease of heart [RCV001352585]\|not provided [RCV000159033]	uncertain significance	7	151574917	151574917	Human	1	name
9833382	CV179118	single nucleotide variant	NM_016203.4(PRKAG2):c.968T>G (p.Phe323Cys)	Lethal congenital glycogen storage disease of heart [RCV001850233]\|not provided [RCV000159007]	uncertain significance	7	151574928	151574928	Human	1	name
9833395	CV179119	single nucleotide variant	NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val)	Lethal congenital glycogen storage disease of heart [RCV003618131]	uncertain significance	7	151574929	151574929	Human	1	name
9833380	CV179121	single nucleotide variant	NM_016203.4(PRKAG2):c.893C>T (p.Ala298Val)	Lethal congenital glycogen storage disease of heart [RCV002515081]\|not provided [RCV000159004]	uncertain significance	7	151576424	151576424	Human	1	name
9833379	CV179122	single nucleotide variant	NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala)	Cardiomyopathy [RCV001184494]\|Cardiovascular phenotype [RCV004019922]\|Hypertrophic cardiomyopathy 6 [RCV001161538]\|Hypertrophic cardiomyopathy [RCV003998381]\|Lethal congenital glycogen storage disease of heart [RCV001448251]\|PRKAG2-related disorder [RCV004734752 ... (more) ]\|Wolff-Parkinson-White pattern [RCV001161537]\|not provided [RCV000159003]	likely benign\|uncertain significance	7	151576451	151576451	Human	7	name , alternate_id
9833378	CV179123	single nucleotide variant	NM_016203.4(PRKAG2):c.865G>C (p.Val289Leu)	Lethal congenital glycogen storage disease of heart [RCV001857573]\|not provided [RCV000159002]	uncertain significance	7	151576452	151576452	Human	1	name
9833369	CV179124	single nucleotide variant	NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)	Cardiomyopathy [RCV001170703]\|Cardiovascular phenotype [RCV000622232]\|Lethal congenital glycogen storage disease of heart [RCV001088403]\|PRKAG2-related disorder [RCV004734751]\|not provided [RCV000786197]\|not specified [RCV005404293]	benign\|likely benign\|uncertain significance	7	151632111	151632111	Human	3	name , alternate_id
9833377	CV179125	single nucleotide variant	NM_016203.4(PRKAG2):c.667T>A (p.Tyr223Asn)	Cardiomyopathy [RCV001190437]\|Hypertrophic cardiomyopathy [RCV004806107]\|not provided [RCV000159001]	uncertain significance	7	151675437	151675437	Human	4	name
9833394	CV179126	single nucleotide variant	NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly)	Cardiomyopathy [RCV001804880]\|Hypertrophic cardiomyopathy [RCV003998386]\|Lethal congenital glycogen storage disease of heart [RCV001320344]	likely benign\|uncertain significance	7	151675464	151675464	Human	5	name
9833376	CV179127	single nucleotide variant	NM_016203.4(PRKAG2):c.569G>A (p.Arg190His)	Cardiomyopathy [RCV003532003]\|Lethal congenital glycogen storage disease of heart [RCV003764998]\|not provided [RCV000158999]	uncertain significance	7	151675535	151675535	Human	3	name
9833393	CV179128	single nucleotide variant	NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)	Cardiomyopathy [RCV001189389]\|Cardiovascular phenotype [RCV002345546]\|Hypertrophic cardiomyopathy [RCV003998385]\|Lethal congenital glycogen storage disease of heart [RCV001857574]\|Lethal congenital glycogen storage disease of heart [RCV002484990]\|not provided [RCV001310611]	uncertain significance	7	151675547	151675547	Human	7	name
9833375	CV179129	single nucleotide variant	NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)	Cardiomyopathy [RCV001186247]\|Cardiovascular phenotype [RCV002345545]\|Hypertrophic cardiomyopathy [RCV003998380]\|Lethal congenital glycogen storage disease of heart [RCV001239320]\|Lethal congenital glycogen storage disease of heart [RCV002484989]\|not provided [RCV000158998]	likely benign\|uncertain significance	7	151675548	151675548	Human	7	name
9833374	CV179130	single nucleotide variant	NM_016203.4(PRKAG2):c.526C>A (p.Pro176Thr)	not provided [RCV000158997]	uncertain significance	7	151675578	151675578	Human		name
9833368	CV179131	single nucleotide variant	NM_016203.4(PRKAG2):c.521C>A (p.Thr174Lys)	not specified [RCV000158989]	likely benign	7	151675583	151675583	Human		name
9833373	CV179132	single nucleotide variant	NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu)	Cardiovascular phenotype [RCV002336366]\|Hypertrophic cardiomyopathy [RCV003998379]\|Lethal congenital glycogen storage disease of heart [RCV001850232]\|not provided [RCV000158996]	likely benign\|uncertain significance	7	151675590	151675590	Human	3	name
9833391	CV179133	single nucleotide variant	NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)	Cardiomyopathy [RCV001189388]\|Cardiovascular phenotype [RCV002326907]\|Congestive heart failure [RCV000852580]\|Hypertrophic cardiomyopathy 6 [RCV001165163]\|Hypertrophic cardiomyopathy [RCV003998384]\|Lethal congenital glycogen storage disease of heart [RCV001371420]\|Wolff-Parkinson-White pattern [RCV0 ... (more) 01163072]\|not provided [RCV000159028]\|not specified [RCV000825443]	uncertain significance	7	151781187	151781187	Human	9	name
9833397	CV179134	single nucleotide variant	NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)	Cardiomyopathy [RCV001189390]\|Cardiovascular phenotype [RCV004019924]\|Hypertrophic cardiomyopathy [RCV003998387]\|Lethal congenital glycogen storage disease of heart [RCV001053172]\|not provided [RCV000766632]\|not specified [RCV000159037]	likely benign\|uncertain significance	7	151781272	151781272	Human	5	name
9833390	CV179135	single nucleotide variant	NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)	Cardiomyopathy [RCV001186289]\|Cardiovascular phenotype [RCV002444661]\|Hypertrophic cardiomyopathy [RCV003998383]\|Lethal congenital glycogen storage disease of heart [RCV000691716]\|not provided [RCV000159026]	uncertain significance	7	151781298	151781298	Human	5	name
156343724	CV1907496	single nucleotide variant	NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser)	Hypertrophic cardiomyopathy [RCV004009434]\|Lethal congenital glycogen storage disease of heart [RCV003090513]	uncertain significance	7	151576421	151576421	Human	3	name
156435383	CV1940741	single nucleotide variant	NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val)	Lethal congenital glycogen storage disease of heart [RCV003104845]	uncertain significance	7	151632125	151632125	Human	1	name
8597276	CV21885	single nucleotide variant	NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)	Cardiomyopathy [RCV000769245]\|Cardiovascular phenotype [RCV000621452]\|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV002222346]\|Hypertrophic cardiomyopathy 6 [RCV000007249]\|Hypertrophic cardiomyopathy [RCV000768489]\|Lethal congenital glycogen storage disease of heart [R ... (more) CV000458247]\|Primary familial hypertrophic cardiomyopathy [RCV000211845]\|Wolff-Parkinson-White pattern [RCV000007248]\|not provided [RCV000159005]	pathogenic	7	151576412	151576412	Human	9	name
401755492	CV2730875	single nucleotide variant	NM_016203.4(PRKAG2):c.433G>C (p.Gly145Arg)	Cardiovascular phenotype [RCV003278400]	uncertain significance	7	151781185	151781185	Human		name
401718716	CV2730878	single nucleotide variant	NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)	Cardiovascular phenotype [RCV003311142]\|Lethal congenital glycogen storage disease of heart [RCV003507499]	uncertain significance	7	151781226	151781226	Human	1	name
401863928	CV2753865	single nucleotide variant	NM_016203.4(PRKAG2):c.925A>G (p.Ser309Gly)	Cardiovascular phenotype [RCV003344126]	uncertain significance	7	151576392	151576392	Human		name
404978816	CV2852262	single nucleotide variant	NM_016203.4(PRKAG2):c.725T>A (p.Met242Lys)	Cardiomyopathy [RCV003487253]	uncertain significance	7	151632098	151632098	Human	2	name
402491196	CV2858178	single nucleotide variant	NM_016203.4(PRKAG2):c.815A>C (p.Asp272Ala)	Lethal congenital glycogen storage disease of heart [RCV003507611]	uncertain significance	7	151595394	151595394	Human	1	name
402496369	CV2871826	single nucleotide variant	NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)	Lethal congenital glycogen storage disease of heart [RCV003508230]	uncertain significance	7	151632078	151632078	Human	1	name
402501583	CV2894111	single nucleotide variant	NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)	Cardiomyopathy [RCV005403327]\|Lethal congenital glycogen storage disease of heart [RCV003508787]	likely benign\|uncertain significance	7	151595421	151595421	Human	3	name
402503213	CV2895990	single nucleotide variant	NM_016203.4(PRKAG2):c.310A>G (p.Thr104Ala)	Lethal congenital glycogen storage disease of heart [RCV003508966]	likely benign	7	151781308	151781308	Human	1	name
402484527	CV2903511	single nucleotide variant	NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)	Lethal congenital glycogen storage disease of heart [RCV003506843]	uncertain significance	7	151576383	151576383	Human	1	name
402493865	CV2933197	single nucleotide variant	NM_016203.4(PRKAG2):c.331C>G (p.Gln111Glu)	Lethal congenital glycogen storage disease of heart [RCV003507942]	uncertain significance	7	151781287	151781287	Human	1	name
402494129	CV2933589	single nucleotide variant	NM_016203.4(PRKAG2):c.970A>G (p.Ile324Val)	Lethal congenital glycogen storage disease of heart [RCV003507971]	uncertain significance	7	151574926	151574926	Human	1	name
405065754	CV2934898	single nucleotide variant	NM_016203.4(PRKAG2):c.851A>C (p.Asp284Ala)	Cardiomyopathy [RCV003532804]	uncertain significance	7	151595358	151595358	Human	2	name
405065766	CV2934899	single nucleotide variant	NM_016203.4(PRKAG2):c.608G>A (p.Arg203Lys)	Cardiomyopathy [RCV003532805]	uncertain significance	7	151675496	151675496	Human	2	name
404985469	CV2934900	single nucleotide variant	NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)	Cardiomyopathy [RCV003532806]\|Lethal congenital glycogen storage disease of heart [RCV003618095]	likely benign\|uncertain significance	7	151675619	151675619	Human	3	name
405065777	CV2934901	single nucleotide variant	NM_016203.4(PRKAG2):c.452C>G (p.Ser151Cys)	Cardiomyopathy [RCV003532807]	uncertain significance	7	151781166	151781166	Human	2	name
405065797	CV2934903	single nucleotide variant	NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)	Cardiomyopathy [RCV003532809]\|Cardiovascular phenotype [RCV004371475]\|Hypertrophic cardiomyopathy 6 [RCV003885358]\|Hypertrophic cardiomyopathy [RCV004805544]	uncertain significance	7	151781226	151781226	Human	5	name
405124981	CV3024839	single nucleotide variant	NM_016203.4(PRKAG2):c.785T>C (p.Met262Thr)	Lethal congenital glycogen storage disease of heart [RCV003617532]	uncertain significance	7	151595424	151595424	Human	1	name
405136003	CV3045128	single nucleotide variant	NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)	Lethal congenital glycogen storage disease of heart [RCV003618825]	uncertain significance	7	151632075	151632075	Human	1	name
405133225	CV3115288	single nucleotide variant	NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)	Lethal congenital glycogen storage disease of heart [RCV003816133]	uncertain significance	7	151632114	151632114	Human	1	name
405103623	CV3116308	single nucleotide variant	NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)	Lethal congenital glycogen storage disease of heart [RCV003812024]	uncertain significance	7	151632104	151632104	Human	1	name
405268888	CV3187157	single nucleotide variant	NM_016203.4(PRKAG2):c.811T>C (p.Tyr271His)	not provided [RCV003887241]	uncertain significance	7	151595398	151595398	Human		name
405269671	CV3187435	single nucleotide variant	NM_016203.4(PRKAG2):c.536C>A (p.Ser179Tyr)	not provided [RCV003887519]	uncertain significance	7	151675568	151675568	Human		name
405292921	CV3207073	single nucleotide variant	NM_016203.4(PRKAG2):c.430C>T (p.Pro144Ser)	PRKAG2-related disorder [RCV004539487]	uncertain significance	7	151781188	151781188	Human		name , trait , alternate_id
405736350	CV3228536	single nucleotide variant	NM_016203.4(PRKAG2):c.308A>G (p.Lys103Arg)	Hypertrophic cardiomyopathy [RCV004014454]	uncertain significance	7	151781310	151781310	Human	2	name
405741228	CV3229174	single nucleotide variant	NM_016203.4(PRKAG2):c.331C>T (p.Gln111Ter)	Hypertrophic cardiomyopathy [RCV004014917]	uncertain significance	7	151781287	151781287	Human	2	name
405733307	CV3229525	single nucleotide variant	NM_016203.4(PRKAG2):c.653C>T (p.Ala218Val)	Hypertrophic cardiomyopathy [RCV004014092]	uncertain significance	7	151675451	151675451	Human	2	name
405695064	CV3230092	single nucleotide variant	NM_016203.4(PRKAG2):c.623C>T (p.Ser208Phe)	Hypertrophic cardiomyopathy [RCV004008010]	uncertain significance	7	151675481	151675481	Human	2	name
405695980	CV3230226	single nucleotide variant	NM_016203.4(PRKAG2):c.943G>A (p.Val315Ile)	Hypertrophic cardiomyopathy [RCV004008145]	uncertain significance	7	151576374	151576374	Human	2	name
405696290	CV3230267	single nucleotide variant	NM_016203.4(PRKAG2):c.538T>C (p.Tyr180His)	Hypertrophic cardiomyopathy [RCV004008186]	uncertain significance	7	151675566	151675566	Human	2	name
405723771	CV3230351	single nucleotide variant	NM_016203.4(PRKAG2):c.875C>G (p.Ala292Gly)	Hypertrophic cardiomyopathy [RCV004013104]	uncertain significance	7	151576442	151576442	Human	2	name
405724947	CV3230471	single nucleotide variant	NM_016203.4(PRKAG2):c.617C>G (p.Pro206Arg)	Hypertrophic cardiomyopathy [RCV004013224]	uncertain significance	7	151675487	151675487	Human	2	name
405727808	CV3230930	single nucleotide variant	NM_016203.4(PRKAG2):c.389C>T (p.Ser130Phe)	Hypertrophic cardiomyopathy [RCV004013511]	uncertain significance	7	151781229	151781229	Human	2	name
405718924	CV3231176	single nucleotide variant	NM_016203.4(PRKAG2):c.316T>G (p.Phe106Val)	Hypertrophic cardiomyopathy [RCV004012582]	uncertain significance	7	151781302	151781302	Human	2	name
405719173	CV3231225	single nucleotide variant	NM_016203.4(PRKAG2):c.634C>T (p.Pro212Ser)	Hypertrophic cardiomyopathy [RCV004012631]\|Lethal congenital glycogen storage disease of heart [RCV005064983]	uncertain significance	7	151675470	151675470	Human	3	name
405712407	CV3231838	single nucleotide variant	NM_016203.4(PRKAG2):c.365G>A (p.Ser122Asn)	Hypertrophic cardiomyopathy [RCV004011868]\|Lethal congenital glycogen storage disease of heart [RCV005064963]	uncertain significance	7	151781253	151781253	Human	3	name
405712421	CV3231839	single nucleotide variant	NM_016203.4(PRKAG2):c.586T>C (p.Ser196Pro)	Hypertrophic cardiomyopathy [RCV004011869]	uncertain significance	7	151675518	151675518	Human	2	name
405754282	CV3232534	single nucleotide variant	NM_016203.4(PRKAG2):c.667T>C (p.Tyr223His)	Hypertrophic cardiomyopathy [RCV004016670]	uncertain significance	7	151675437	151675437	Human	2	name
405717671	CV3232794	single nucleotide variant	NM_016203.4(PRKAG2):c.892G>A (p.Ala298Thr)	Hypertrophic cardiomyopathy [RCV004012466]	uncertain significance	7	151576425	151576425	Human	2	name
405748001	CV3232896	single nucleotide variant	NM_016203.4(PRKAG2):c.656C>T (p.Ser219Leu)	Hypertrophic cardiomyopathy [RCV004015855]	uncertain significance	7	151675448	151675448	Human	2	name
405757427	CV3233092	duplication	NM_016203.4(PRKAG2):c.1386dup (p.Val463fs)	Hypertrophic cardiomyopathy [RCV004017045]	uncertain significance	7	151565732	151565733	Human	2	name
405742578	CV3234159	single nucleotide variant	NM_016203.4(PRKAG2):c.370A>C (p.Ser124Arg)	Hypertrophic cardiomyopathy [RCV004015217]	uncertain significance	7	151781248	151781248	Human	2	name
405742816	CV3234189	single nucleotide variant	NM_016203.4(PRKAG2):c.392C>A (p.Ser131Tyr)	Hypertrophic cardiomyopathy [RCV004015247]	uncertain significance	7	151781226	151781226	Human	2	name
405753859	CV3234421	single nucleotide variant	NM_016203.4(PRKAG2):c.539A>G (p.Tyr180Cys)	Hypertrophic cardiomyopathy [RCV004016471]	uncertain significance	7	151675565	151675565	Human	2	name
405708274	CV3384335	single nucleotide variant	NM_016203.4(PRKAG2):c.332A>G (p.Gln111Arg)	Cardiovascular phenotype [RCV004522065]	uncertain significance	7	151781286	151781286	Human		name
405708281	CV3384336	single nucleotide variant	NM_016203.4(PRKAG2):c.467C>T (p.Thr156Ile)	Cardiovascular phenotype [RCV004522066]	uncertain significance	7	151675637	151675637	Human		name
405708287	CV3384337	single nucleotide variant	NM_016203.4(PRKAG2):c.814G>A (p.Asp272Asn)	Cardiovascular phenotype [RCV004522067]	uncertain significance	7	151595395	151595395	Human		name
405708295	CV3384338	single nucleotide variant	NM_016203.4(PRKAG2):c.890T>G (p.Val297Gly)	Cardiovascular phenotype [RCV004522068]	uncertain significance	7	151576427	151576427	Human		name
405708301	CV3384339	single nucleotide variant	NM_016203.4(PRKAG2):c.922G>C (p.Glu308Gln)	Cardiovascular phenotype [RCV004522069]	uncertain significance	7	151576395	151576395	Human		name
405854126	CV3393787	single nucleotide variant	NM_016203.4(PRKAG2):c.950T>C (p.Met317Thr)	not provided [RCV004547013]	uncertain significance	7	151574946	151574946	Human		name
407427050	CV3409259	single nucleotide variant	NM_016203.4(PRKAG2):c.595G>T (p.Asp199Tyr)	Hypertrophic cardiomyopathy 6 [RCV004585191]\|Lethal congenital glycogen storage disease of heart [RCV005101967]	uncertain significance	7	151675509	151675509	Human	2	name
407429240	CV3413651	single nucleotide variant	NM_016203.4(PRKAG2):c.734A>G (p.Lys245Arg)	Wolff-Parkinson-White pattern [RCV004595060]	uncertain significance	7	151632089	151632089	Human	1	name
407465549	CV3464306	single nucleotide variant	NM_016203.4(PRKAG2):c.493A>G (p.Thr165Ala)	Cardiovascular phenotype [RCV004660180]	uncertain significance	7	151675611	151675611	Human		name
407465540	CV3464309	single nucleotide variant	NM_016203.4(PRKAG2):c.479C>T (p.Ser160Phe)	Cardiovascular phenotype [RCV004660182]	uncertain significance	7	151675625	151675625	Human		name
596943360	CV3546665	single nucleotide variant	NM_016203.4(PRKAG2):c.772A>G (p.Ser258Gly)	Hypertrophic cardiomyopathy [RCV004807790]	uncertain significance	7	151595437	151595437	Human	2	name
596943363	CV3546667	single nucleotide variant	NM_016203.4(PRKAG2):c.643C>G (p.Pro215Ala)	Hypertrophic cardiomyopathy [RCV004807792]	uncertain significance	7	151675461	151675461	Human	2	name
596943367	CV3546669	single nucleotide variant	NM_016203.4(PRKAG2):c.619T>C (p.Ser207Pro)	Hypertrophic cardiomyopathy [RCV004807794]\|Lethal congenital glycogen storage disease of heart [RCV005061466]	uncertain significance	7	151675485	151675485	Human	3	name
596943369	CV3546670	single nucleotide variant	NM_016203.4(PRKAG2):c.589C>T (p.Pro197Ser)	Hypertrophic cardiomyopathy [RCV004807795]	uncertain significance	7	151675515	151675515	Human	2	name
596943522	CV3546671	single nucleotide variant	NM_016203.4(PRKAG2):c.455G>T (p.Arg152Leu)	Hypertrophic cardiomyopathy [RCV004807796]	uncertain significance	7	151781163	151781163	Human	2	name
596943373	CV3546672	single nucleotide variant	NM_016203.4(PRKAG2):c.440T>C (p.Ile147Thr)	Hypertrophic cardiomyopathy [RCV004807797]	uncertain significance	7	151781178	151781178	Human	2	name
596943377	CV3546674	single nucleotide variant	NM_016203.4(PRKAG2):c.307A>T (p.Lys103Ter)	Hypertrophic cardiomyopathy [RCV004807799]	uncertain significance	7	151781311	151781311	Human	2	name
597702543	CV3718980	single nucleotide variant	NM_016203.4(PRKAG2):c.904C>G (p.Arg302Gly)	Lethal congenital glycogen storage disease of heart [RCV005033662]	likely pathogenic	7	151576413	151576413	Human	1	name
597733545	CV3732883	single nucleotide variant	NM_016203.4(PRKAG2):c.973A>G (p.Asn325Asp)	PRKAG2-related cardiomyopathy [RCV005051231]	uncertain significance	7	151574923	151574923	Human	1	name
597869556	CV3749798	single nucleotide variant	NM_016203.4(PRKAG2):c.697G>T (p.Ala233Ser)	Lethal congenital glycogen storage disease of heart [RCV005068479]	uncertain significance	7	151632126	151632126	Human	1	name
597961908	CV3756736	single nucleotide variant	NM_016203.4(PRKAG2):c.597C>G (p.Asp199Glu)	Lethal congenital glycogen storage disease of heart [RCV005081858]	uncertain significance	7	151675507	151675507	Human	1	name
597838945	CV3758245	single nucleotide variant	NM_016203.4(PRKAG2):c.665A>C (p.His222Pro)	Lethal congenital glycogen storage disease of heart [RCV005086079]\|not specified [RCV005086080]	uncertain significance	7	151675439	151675439	Human	1	name
597837580	CV3774365	single nucleotide variant	NM_016203.4(PRKAG2):c.986G>T (p.Arg329Ile)	Lethal congenital glycogen storage disease of heart [RCV005109919]	uncertain significance	7	151574910	151574910	Human	1	name
597837587	CV3774366	single nucleotide variant	NM_016203.4(PRKAG2):c.882T>G (p.Phe294Leu)	Lethal congenital glycogen storage disease of heart [RCV005109920]	uncertain significance	7	151576435	151576435	Human	1	name
597837593	CV3774367	single nucleotide variant	NM_016203.4(PRKAG2):c.694G>T (p.Ala232Ser)	Lethal congenital glycogen storage disease of heart [RCV005109921]	uncertain significance	7	151632129	151632129	Human	1	name
597837599	CV3774368	single nucleotide variant	NM_016203.4(PRKAG2):c.398A>C (p.Glu133Ala)	Lethal congenital glycogen storage disease of heart [RCV005109922]	uncertain significance	7	151781220	151781220	Human	1	name
597852080	CV3783065	single nucleotide variant	NM_016203.4(PRKAG2):c.860T>A (p.Leu287Ter)	Lethal congenital glycogen storage disease of heart [RCV005127085]	uncertain significance	7	151595349	151595349	Human	1	name
597860263	CV3789960	single nucleotide variant	NM_016203.4(PRKAG2):c.397G>T (p.Glu133Ter)	Lethal congenital glycogen storage disease of heart [RCV005134661]	uncertain significance	7	151781221	151781221	Human	1	name
597865799	CV3793992	single nucleotide variant	NM_016203.4(PRKAG2):c.536C>G (p.Ser179Cys)	Cardiovascular phenotype [RCV005258012]\|Lethal congenital glycogen storage disease of heart [RCV005140374]	uncertain significance	7	151675568	151675568	Human	1	name
597873447	CV3805294	single nucleotide variant	NM_016203.4(PRKAG2):c.361A>C (p.Met121Leu)	Lethal congenital glycogen storage disease of heart [RCV005148572]	uncertain significance	7	151781257	151781257	Human	1	name
597898383	CV3824009	single nucleotide variant	NM_016203.4(PRKAG2):c.750C>A (p.Asp250Glu)	Lethal congenital glycogen storage disease of heart [RCV005173248]	uncertain significance	7	151632073	151632073	Human	1	name
597904199	CV3842218	single nucleotide variant	NM_016203.4(PRKAG2):c.784A>G (p.Met262Val)	Lethal congenital glycogen storage disease of heart [RCV005178853]	uncertain significance	7	151595425	151595425	Human	1	name
597926183	CV3856599	single nucleotide variant	NM_016203.4(PRKAG2):c.997T>C (p.Ser333Pro)	Lethal congenital glycogen storage disease of heart [RCV005200665]	pathogenic	7	151574899	151574899	Human	1	name
598124925	CV3885477	single nucleotide variant	NM_016203.4(PRKAG2):c.404C>A (p.Ser135Tyr)	not specified [RCV005240055]	uncertain significance	7	151781214	151781214	Human		name
598243090	CV3894742	single nucleotide variant	NM_016203.4(PRKAG2):c.863A>C (p.Gln288Pro)	Hypertrophic cardiomyopathy 6 [RCV005257948]	uncertain significance	7	151595346	151595346	Human	1	name
616934728	CV4009900	single nucleotide variant	NM_016203.4(PRKAG2):c.520A>T (p.Thr174Ser)	Cardiomyopathy [RCV005401058]	uncertain significance	7	151675584	151675584	Human	2	name
616935694	CV4010262	single nucleotide variant	NM_016203.4(PRKAG2):c.933A>C (p.Lys311Asn)	Cardiomyopathy [RCV005403563]	uncertain significance	7	151576384	151576384	Human	2	name
616940218	CV4014728	single nucleotide variant	NM_016203.4(PRKAG2):c.337T>G (p.Ser113Ala)	not provided [RCV005414222]	uncertain significance	7	151781281	151781281	Human		name
8603027	CV45358	single nucleotide variant	NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)	Cardiomyopathy [RCV000776032]\|Cardiovascular phenotype [RCV000247427]\|Hypertrophic cardiomyopathy 6 [RCV000314869]\|Lethal congenital glycogen storage disease of heart [RCV000229228]\|PRKAG2 cardiac syndrome [RCV000148737]\|Renal cysts and diabetes syndrome [RCV001 ... (more) 258286]\|Wolff-Parkinson-White pattern [RCV000490302]\|not provided [RCV001529977]\|not specified [RCV000038934]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151781320	151781320	Human	6	name
8603028	CV45359	single nucleotide variant	NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)	Cardiomyopathy [RCV000030377]\|Hypertrophic cardiomyopathy [RCV000497723]\|Lethal congenital glycogen storage disease of heart [RCV001231512]	pathogenic\|likely pathogenic\|uncertain significance	7	151576438	151576438	Human	5	name
8608578	CV54879	single nucleotide variant	NM_016203.4(PRKAG2):c.313G>A (p.Val105Met)	Cardiomyopathy [RCV001177608]\|Cardiovascular phenotype [RCV004018884]\|Lethal congenital glycogen storage disease of heart [RCV001224749]\|not provided [RCV000767091]\|not specified [RCV000038936]	likely benign\|uncertain significance	7	151781305	151781305	Human	3	name
8608579	CV54880	single nucleotide variant	NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)	Cardiomyopathy [RCV001177609]\|Cardiovascular phenotype [RCV004017325]\|Lethal congenital glycogen storage disease of heart [RCV001079478]\|Lethal congenital glycogen storage disease of heart [RCV003224125]\|not provided [RCV000589928]\|not specified [RCV000038937]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151781293	151781293	Human	5	name
8608580	CV54881	single nucleotide variant	NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)	Cardiomyopathy [RCV001526073]\|Cardiovascular phenotype [RCV000620450]\|Hypertrophic cardiomyopathy [RCV003996419]\|Lethal congenital glycogen storage disease of heart [RCV000700184]\|not provided [RCV000766633]\|not specified [RCV000038938]	likely benign\|uncertain significance	7	151781262	151781262	Human	5	name
8608581	CV54882	single nucleotide variant	NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)	Arrhythmogenic right ventricular dysplasia 9 [RCV000491968]\|Cardiomyopathy [RCV000769254]\|Cardiovascular phenotype [RCV004018885]\|Hypertrophic cardiomyopathy 6 [RCV000284645]\|Hypertrophic cardiomyopathy [RCV000415017]\|Lethal congenital glycogen storage disease of heart [RCV000226771]\|Lethal congenit ... (more) al glycogen storage disease of heart [RCV000515233]\|Wolff-Parkinson-White pattern [RCV000379140]\|not provided [RCV000656954]\|not specified [RCV000038939]	likely benign\|uncertain significance	7	151781193	151781193	Human	8	name
8608582	CV54883	single nucleotide variant	NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)	Cardiomyopathy [RCV001182264]\|Hypertrophic cardiomyopathy [RCV003996420]\|Lethal congenital glycogen storage disease of heart [RCV001064983]\|not provided [RCV001569922]\|not specified [RCV000038940]	uncertain significance	7	151781190	151781190	Human	5	name
8608587	CV54888	single nucleotide variant	NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)	Cardiomyopathy [RCV000769251]\|Cardiovascular phenotype [RCV005403742]\|Hypertrophic cardiomyopathy 6 [RCV001163067]\|Hypertrophic cardiomyopathy [RCV003996423]\|Lethal congenital glycogen storage disease of heart [RCV001852814]\|Wolff-Parkinson-White pattern [RCV001161543]\|not specified [RCV000038945]	uncertain significance	7	151675572	151675572	Human	7	name
8608588	CV54889	single nucleotide variant	NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val)	Cardiomyopathy [RCV001184217]\|Hypertrophic cardiomyopathy [RCV003996424]\|Lethal congenital glycogen storage disease of heart [RCV000531085]\|not provided [RCV001559913]\|not specified [RCV000038946]	likely benign\|uncertain significance	7	151675550	151675550	Human	5	name
8608592	CV54894	single nucleotide variant	NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome [RCV000331754]\|Lethal congenital glycogen storage disease of heart [RCV000371199]\|Lethal congenital glycogen storage disease of heart [RCV002477108]\|Wolff-Parkinson-White pattern [RCV001795010]\|not specified [RCV000038951]	uncertain significance	7	151675484	151675484	Human	2	name
8608596	CV54898	single nucleotide variant	NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	Cardiomyopathy [RCV000769246]\|Cardiovascular phenotype [RCV003162342]\|Hypertrophic cardiomyopathy 6 [RCV001161542]\|Lethal congenital glycogen storage disease of heart [RCV000699614]\|See cases [RCV001199301]\|Wolff-Parkinson-White pattern [RCV001161541]\|not provided [RCV000588424]\|not specified [RCV00 ... (more) 0038955]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151632125	151632125	Human	5	name
8608597	CV54899	single nucleotide variant	NM_016203.4(PRKAG2):c.722G>A (p.Gly241Asp)	not specified [RCV000038956]	uncertain significance	7	151632101	151632101	Human		name
8608598	CV54900	single nucleotide variant	NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln)	Lethal congenital glycogen storage disease of heart [RCV002513518]\|not specified [RCV000038957]	likely benign\|uncertain significance	7	151632084	151632084	Human	1	name
8608599	CV54901	single nucleotide variant	NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)	Cardiomyopathy [RCV001184219]\|Hypertrophic cardiomyopathy [RCV003996426]\|Lethal congenital glycogen storage disease of heart [RCV001852815]\|Lethal congenital glycogen storage disease of heart [RCV002496622]\|not provided [RCV002460899]\|not specified [RCV000038958]	uncertain significance	7	151576452	151576452	Human	5	name
8608602	CV54904	single nucleotide variant	NM_016203.4(PRKAG2):c.967T>A (p.Phe323Ile)	Hypertrophic cardiomyopathy [RCV000038962]	likely pathogenic	7	151574929	151574929	Human	2	name
21069665	CV795993	single nucleotide variant	NM_016203.4(PRKAG2):c.745G>C (p.Glu249Gln)	Lethal congenital glycogen storage disease of heart [RCV002550730]\|not provided [RCV000998950]	uncertain significance	7	151632078	151632078	Human	1	name
8632483	CV87691	single nucleotide variant	NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)	Cardiomyopathy [RCV001186288]\|Cardiovascular phenotype [RCV004019078]\|Hypertrophic cardiomyopathy [RCV003996561]\|Lethal congenital glycogen storage disease of heart [RCV001052457]\|not provided [RCV000159000]	uncertain significance\|not provided	7	151675517	151675517	Human	5	name
34896195	CV910852	single nucleotide variant	NM_016203.4(PRKAG2):c.864A>C (p.Gln288His)	Cardiomyopathy [RCV001185654]	uncertain significance	7	151595345	151595345	Human	2	name
34901042	CV910855	single nucleotide variant	NM_016203.4(PRKAG2):c.790T>A (p.Phe264Ile)	Cardiomyopathy [RCV001191048]	uncertain significance	7	151595419	151595419	Human	2	name
34897809	CV910858	single nucleotide variant	NM_016203.4(PRKAG2):c.751G>T (p.Glu251Ter)	Cardiomyopathy [RCV001179477]	uncertain significance	7	151632072	151632072	Human	2	name
34894776	CV910859	single nucleotide variant	NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)	Cardiomyopathy [RCV001184889]\|Lethal congenital glycogen storage disease of heart [RCV001316536]\|Lethal congenital glycogen storage disease of heart [RCV002491542]	uncertain significance	7	151632096	151632096	Human	3	name
34895225	CV910861	single nucleotide variant	NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)	Cardiomyopathy [RCV001177944]\|Lethal congenital glycogen storage disease of heart [RCV002559733]\|not provided [RCV004792756]	uncertain significance	7	151632117	151632117	Human	3	name
34900150	CV910865	single nucleotide variant	NM_016203.4(PRKAG2):c.679A>C (p.Lys227Gln)	Cardiomyopathy [RCV001189566]\|Lethal congenital glycogen storage disease of heart [RCV005093985]	uncertain significance	7	151675425	151675425	Human	3	name
34896850	CV910867	single nucleotide variant	NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala)	Cardiomyopathy [RCV001185949]\|Lethal congenital glycogen storage disease of heart [RCV003770073]	uncertain significance	7	151675443	151675443	Human	3	name
34900636	CV910870	single nucleotide variant	NM_016203.4(PRKAG2):c.629A>T (p.Gln210Leu)	Cardiomyopathy [RCV001190367]\|Hypertrophic cardiomyopathy [RCV004010428]	uncertain significance	7	151675475	151675475	Human	4	name
34896883	CV910873	single nucleotide variant	NM_016203.4(PRKAG2):c.584C>T (p.Ser195Phe)	Cardiomyopathy [RCV001178710]	uncertain significance	7	151675520	151675520	Human	2	name
34898439	CV910874	single nucleotide variant	NM_016203.4(PRKAG2):c.550C>T (p.Pro184Ser)	Cardiomyopathy [RCV001179981]	uncertain significance	7	151675554	151675554	Human	2	name
34900133	CV910883	single nucleotide variant	NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)	Cardiomyopathy [RCV001189548]\|Hypertrophic cardiomyopathy [RCV004807431]\|Lethal congenital glycogen storage disease of heart [RCV001337882]\|not provided [RCV003433079]	uncertain significance	7	151781242	151781242	Human	5	name
34901742	CV910884	single nucleotide variant	NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)	Cardiomyopathy [RCV001192176]\|Cardiovascular phenotype [RCV002451401]\|Hypertrophic cardiomyopathy [RCV004010579]\|Lethal congenital glycogen storage disease of heart [RCV001361345]	uncertain significance	7	151781277	151781277	Human	5	name
34900688	CV910885	single nucleotide variant	NM_016203.4(PRKAG2):c.311C>A (p.Thr104Asn)	Cardiomyopathy [RCV001190509]	uncertain significance	7	151781307	151781307	Human	2	name
38463341	CV919090	single nucleotide variant	NM_016203.4(PRKAG2):c.413C>G (p.Ser138Cys)	Wolff-Parkinson-White pattern [RCV001198986]	uncertain significance	7	151781205	151781205	Human	1	name
38493061	CV924768	single nucleotide variant	NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)	Lethal congenital glycogen storage disease of heart [RCV001224007]	uncertain significance	7	151632104	151632104	Human	1	name
38469331	CV933790	single nucleotide variant	NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile)	Lethal congenital glycogen storage disease of heart [RCV001213304]	pathogenic	7	151576448	151576448	Human	1	name
151232844	CV1319989	single nucleotide variant	NM_016203.4(PRKAG2):c.820G>A (p.Val274Ile)	Cardiomyopathy [RCV001799345]\|Lethal congenital glycogen storage disease of heart [RCV001868907]\|PRKAG2-related disorder [RCV004734277]	likely benign\|uncertain significance	7	151595389	151595389	Human	3	alternate_id
8597278	CV21888	single nucleotide variant	NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)	Hypertrophic cardiomyopathy 6 [RCV000007252]\|Hypertrophic cardiomyopathy [RCV000211739]\|PRKAG2-related disorder [RCV004528089]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	7	151568750	151568750	Human	3	alternate_id
408376103	CV3505541	single nucleotide variant	NM_016203.4(PRKAG2):c.1655A>C (p.Gln552Pro)	PRKAG2-related disorder [RCV004726550]	uncertain significance	7	151560547	151560547	Human		trait , alternate_id
408368652	CV3514642	single nucleotide variant	NM_016203.4(PRKAG2):c.1150A>G (p.Arg384Gly)	PRKAG2-related disorder [RCV004735388]	likely pathogenic	7	151568799	151568799	Human		trait , alternate_id
8608560	CV54861	single nucleotide variant	NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)	Cardiomyopathy [RCV001178107]\|Cardiovascular phenotype [RCV000621627]\|Lethal congenital glycogen storage disease of heart [RCV001081726]\|PRKAG2-related disorder [RCV004534819]\|not provided [RCV000724478]\|not specified [RCV000038915]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	151565801	151565801	Human	3	alternate_id
596945236	CV3543329	single nucleotide variant	NM_016203.4(PRKAG2):c.1026G>C (p.Glu342Asp)	PRKAG2 syndrome [RCV004799702]	pathogenic	7	151572689	151572689	Human		trait
150416575	CV1180309	deletion	NM_016203.4(PRKAG2):c.115-28211_115-28200del	not provided [RCV001549728]	likely benign	7	151814741	151814752	Human		name
616936906	CV4010861	indel	NM_016203.4(PRKAG2):c.864+32_864+35delinsTTATA	not specified [RCV005404208]	likely benign	7	151595310	151595313	Human		name

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