Gaa Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1001 records found for search term Gaa

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8557855	CV19076	single nucleotide variant	GAA, IVS1AS, G-C, -1	Glycogen storage disease, type II [RCV000004252]	pathogenic				Human		name
11641243	CV267731	single nucleotide variant	NM_000152.5(GAA):c.-2C>T	Cardiovascular phenotype [RCV004619240]\|GAA-related disorder [RCV004751422]\|not provided [RCV001697645]\|not specified [RCV000352150]	benign\|likely benign	17	80104585	80104585	Human	1	name , alternate_id
14720819	CV656474	single nucleotide variant	NM_000152.5(GAA):c.-9T>C	GAA-related disorder [RCV004751752]\|not provided [RCV000831399]	likely benign	17	80104578	80104578	Human	1	name , alternate_id
40907007	CV979933	single nucleotide variant	NM_000152.5(GAA):c.*2C>T	Glycogen storage disease, type II [RCV001280482]\|not provided [RCV001751542]	uncertain significance	17	80119333	80119333	Human	1	name
8639384	CV98368	single nucleotide variant	NM_000152.5(GAA):c.*3G>A	Glycogen storage disease, type II [RCV000388157]\|not provided [RCV000675251]\|not specified [RCV000078153]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80119334	80119334	Human	1	name
405283442	CV3202709	single nucleotide variant	NM_000152.5(GAA):c.-44G>A	GAA-related disorder [RCV003921816]	likely benign	17	80101879	80101879	Human		name , trait , alternate_id
11662357	CV340645	single nucleotide variant	NM_000152.5(GAA):c.-62A>C	Glycogen storage disease, type II [RCV000385454]	uncertain significance	17	80101861	80101861	Human	1	name
11656142	CV340701	single nucleotide variant	NM_000152.5(GAA):c.*98A>T	Glycogen storage disease, type II [RCV000331344]	uncertain significance	17	80119429	80119429	Human	1	name
11647606	CV347677	single nucleotide variant	NM_000152.5(GAA):c.*91G>A	Glycogen storage disease, type II [RCV000277433]\|not provided [RCV001683311]	benign\|likely benign	17	80119422	80119422	Human	1	name
12848001	CV376735	single nucleotide variant	NM_000152.5(GAA):c.-37A>G	not specified [RCV000444495]	likely benign	17	80101886	80101886	Human		name
14720280	CV656473	single nucleotide variant	NM_000152.5(GAA):c.-18T>A	not provided [RCV000831153]	likely benign	17	80104569	80104569	Human		name
28904700	CV878743	single nucleotide variant	NM_000152.5(GAA):c.-75C>G	Glycogen storage disease, type II [RCV001126190]\|Primary ciliary dyskinesia 15 [RCV001126189]\|not provided [RCV001732049]	likely benign	17	80101848	80101848	Human	2	name
28896352	CV878755	single nucleotide variant	NM_000152.5(GAA):c.*64G>T	Glycogen storage disease, type II [RCV001122817]\|not provided [RCV001675984]	benign\|uncertain significance	17	80119395	80119395	Human	1	name
28896355	CV878756	single nucleotide variant	NM_000152.5(GAA):c.*66G>A	Glycogen storage disease, type II [RCV001122818]	uncertain significance	17	80119397	80119397	Human	1	name
28896360	CV878757	single nucleotide variant	NM_000152.5(GAA):c.*82C>T	Glycogen storage disease, type II [RCV001122819]	uncertain significance	17	80119413	80119413	Human	1	name
405259168	CV3194584	single nucleotide variant	NM_000152.5(GAA):c.-311G>C	GAA-related disorder [RCV003893978]	likely benign	17	80101612	80101612	Human		name , trait , alternate_id
11649095	CV330471	single nucleotide variant	NM_000152.5(GAA):c.*309C>T	Glycogen storage disease, type II [RCV000285532]	uncertain significance	17	80119640	80119640	Human	1	name
11657607	CV330474	single nucleotide variant	NM_000152.5(GAA):c.*419G>T	Glycogen storage disease, type II [RCV000342723]\|not provided [RCV004709789]	benign\|likely benign	17	80119750	80119750	Human	1	name
405868861	CV3400635	deletion	NM_000152.5(GAA):c.2483del	Glycogen storage disease, type II [RCV004576638]	likely pathogenic	17	80118192	80118192	Human	1	name
11665447	CV340638	single nucleotide variant	NM_000152.5(GAA):c.-338C>G	Glycogen storage disease, type II [RCV000271949]\|Primary ciliary dyskinesia [RCV000294842]\|not provided [RCV001711938]	benign\|likely benign	17	80101585	80101585	Human	2	name
11655626	CV340639	single nucleotide variant	NM_000152.5(GAA):c.-312C>T	GAA-related disorder [RCV003897740]\|Glycogen storage disease, type II [RCV000326975]\|not specified [RCV000428679]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80101611	80101611	Human	1	name , alternate_id
11647322	CV340642	single nucleotide variant	NM_000152.5(GAA):c.-236C>T	Glycogen storage disease, type II [RCV000275921]	uncertain significance	17	80101687	80101687	Human	1	name
11666281	CV340643	single nucleotide variant	NM_000152.5(GAA):c.-178G>A	Glycogen storage disease, type II [RCV000331041]\|Primary ciliary dyskinesia [RCV000398836]\|not provided [RCV001675823]	benign\|likely benign	17	80101745	80101745	Human	2	name
11656571	CV340702	single nucleotide variant	NM_000152.5(GAA):c.*223C>T	Glycogen storage disease, type II [RCV000334735]\|not provided [RCV000675252]	benign\|likely benign	17	80119554	80119554	Human	1	name
11666517	CV346306	single nucleotide variant	NM_000152.5(GAA):c.-260G>C	Glycogen storage disease, type II [RCV000381550]\|Primary ciliary dyskinesia [RCV000352096]\|not provided [RCV001643014]	benign\|likely benign	17	80101663	80101663	Human	5	name
11666517	CV346306	single nucleotide variant	NM_000152.5(GAA):c.-260G>C	Glycogen storage disease, type II [RCV000381550]\|Primary ciliary dyskinesia [RCV000352096]\|not provided [RCV001643014]	benign\|likely benign	17	80101663	80101664	Human	5	name
11661198	CV346317	single nucleotide variant	NM_000152.5(GAA):c.*128T>C	Glycogen storage disease, type II [RCV000374344]	uncertain significance	17	80119459	80119459	Human	1	name
11663239	CV346318	single nucleotide variant	NM_000152.5(GAA):c.*443G>A	Glycogen storage disease, type II [RCV000394085]	uncertain significance	17	80119774	80119774	Human	1	name
11652118	CV346321	single nucleotide variant	NM_000152.5(GAA):c.*521A>G	Glycogen storage disease, type II [RCV000302889]	uncertain significance	17	80119852	80119852	Human	1	name
11648450	CV347680	duplication	NM_000152.5(GAA):c.*139dup	Glycogen storage disease, type II [RCV000282066]\|not provided [RCV001725166]	benign\|likely benign	17	80119469	80119470	Human	1	name
11661057	CV347689	single nucleotide variant	NM_000152.5(GAA):c.*288G>T	Glycogen storage disease, type II [RCV000372992]	uncertain significance	17	80119619	80119619	Human	1	name
408384632	CV3504333	single nucleotide variant	NM_000152.5(GAA):c.-292C>A	GAA-related disorder [RCV004731923]	likely benign	17	80101631	80101631	Human		name , trait , alternate_id
12838016	CV378818	single nucleotide variant	NM_000152.5(GAA):c.-116C>T	Glycogen storage disease, type II [RCV001796971]\|not provided [RCV001703848]	likely benign\|uncertain significance	17	80101807	80101807	Human	1	name
13537020	CV506761	single nucleotide variant	NM_000152.5(GAA):c.-317C>T	not specified [RCV000609813]	likely benign	17	80101606	80101606	Human		name
13525577	CV507194	single nucleotide variant	NM_000152.5(GAA):c.-284G>A	not specified [RCV000603283]	likely benign	17	80101639	80101639	Human		name
13539430	CV507195	single nucleotide variant	NM_000152.5(GAA):c.-104C>T	not specified [RCV000613262]	likely benign	17	80101819	80101819	Human		name
14711395	CV656472	single nucleotide variant	NM_000152.5(GAA):c.-103G>A	not provided [RCV000828028]	likely benign	17	80101820	80101820	Human		name
28902430	CV878742	single nucleotide variant	NM_000152.5(GAA):c.-325C>T	Glycogen storage disease, type II [RCV001125212]\|Primary ciliary dyskinesia 15 [RCV001125211]	uncertain significance	17	80101598	80101598	Human	2	name
28896367	CV878758	single nucleotide variant	NM_000152.5(GAA):c.*163G>T	Glycogen storage disease, type II [RCV001122820]	uncertain significance	17	80119494	80119494	Human	1	name
28899300	CV878759	single nucleotide variant	NM_000152.5(GAA):c.*219G>A	Glycogen storage disease, type II [RCV001123905]	uncertain significance	17	80119550	80119550	Human	1	name
28899306	CV878760	single nucleotide variant	NM_000152.5(GAA):c.*264G>A	Glycogen storage disease, type II [RCV001123906]	uncertain significance	17	80119595	80119595	Human	1	name
28899311	CV878761	single nucleotide variant	NM_000152.5(GAA):c.*310C>T	Glycogen storage disease, type II [RCV001123907]	uncertain significance	17	80119641	80119641	Human	1	name
28899315	CV878762	single nucleotide variant	NM_000152.5(GAA):c.*313C>G	Glycogen storage disease, type II [RCV001123908]	uncertain significance	17	80119644	80119644	Human	1	name
126744195	CV1033720	single nucleotide variant	NM_000152.5(GAA):c.955+5G>C	Glycogen storage disease, type II [RCV001351248]\|not provided [RCV004720866]\|not specified [RCV004770092]	uncertain significance	17	80107901	80107901	Human	1	name
126770039	CV1033721	single nucleotide variant	NM_000152.5(GAA):c.956-3C>T	Glycogen storage disease, type II [RCV001344253]	uncertain significance	17	80108287	80108287	Human	1	name
127231780	CV1083684	single nucleotide variant	NM_000152.5(GAA):c.859-9A>G	Glycogen storage disease, type II [RCV001417943]	likely benign	17	80107791	80107791	Human	1	name
127270314	CV1105480	single nucleotide variant	NM_000152.5(GAA):c.546+4G>C	Glycogen storage disease, type II [RCV001430577]	likely benign	17	80105136	80105136	Human	1	name
127322930	CV1126868	single nucleotide variant	NM_000152.5(GAA):c.859-5C>T	Glycogen storage disease, type II [RCV001467767]	likely benign	17	80107795	80107795	Human	1	name
127303088	CV1126869	single nucleotide variant	NM_000152.5(GAA):c.859-4C>T	Glycogen storage disease, type II [RCV001461855]	likely benign	17	80107796	80107796	Human	1	name
150536290	CV1302662	single nucleotide variant	NM_000152.5(GAA):c.-32-5C>G	not provided [RCV001761352]	uncertain significance	17	80104550	80104550	Human		name
8657559	CV134568	single nucleotide variant	NM_000152.5(GAA):c.858+8G>A	Glycogen storage disease, type II [RCV001085423]\|not provided [RCV000675222]\|not specified [RCV000117108]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80107730	80107730	Human	1	name
151865225	CV1406008	single nucleotide variant	NM_000152.5(GAA):c.547-1G>C	Glycogen storage disease, type II [RCV001959745]	pathogenic	17	80105748	80105748	Human	1	name
151843355	CV1408752	single nucleotide variant	NM_000152.5(GAA):c.693-1G>C	Glycogen storage disease, type II [RCV002015607]	likely pathogenic	17	80107556	80107556	Human	1	name
151808022	CV1417809	single nucleotide variant	NM_000152.5(GAA):c.858+5A>G	Glycogen storage disease, type II [RCV001867734]	uncertain significance	17	80107727	80107727	Human	1	name
151850285	CV1450231	single nucleotide variant	NM_000152.5(GAA):c.693-5C>G	Glycogen storage disease, type II [RCV001922684]	likely benign\|uncertain significance	17	80107552	80107552	Human	1	name
151827867	CV1468302	single nucleotide variant	NM_000152.5(GAA):c.859-2A>G	Glycogen storage disease, type II [RCV002030510]	pathogenic\|likely pathogenic	17	80107798	80107798	Human	1	name
151728591	CV1482901	single nucleotide variant	NM_000152.5(GAA):c.859-8T>G	Glycogen storage disease, type II [RCV001892006]	uncertain significance	17	80107792	80107792	Human	1	name
151846082	CV1501724	single nucleotide variant	NM_000152.5(GAA):c.-32-3C>T	Glycogen storage disease, type II [RCV002015927]	uncertain significance	17	80104552	80104552	Human	1	name
152046326	CV1548253	single nucleotide variant	NM_000152.5(GAA):c.547-4C>A	Glycogen storage disease, type II [RCV002071634]	likely benign	17	80105745	80105745	Human	1	name
152091335	CV1602843	single nucleotide variant	NM_000152.5(GAA):c.956-4C>T	Glycogen storage disease, type II [RCV002194338]	likely benign	17	80108286	80108286	Human	1	name
152166224	CV1620846	single nucleotide variant	NM_000152.5(GAA):c.547-9C>T	Glycogen storage disease, type II [RCV002181890]	likely benign	17	80105740	80105740	Human	1	name
152068945	CV1640089	single nucleotide variant	NM_000152.5(GAA):c.956-8C>T	Glycogen storage disease, type II [RCV002147813]	likely benign	17	80108282	80108282	Human	1	name
152040409	CV1644593	single nucleotide variant	NM_000152.5(GAA):c.546+9G>A	Glycogen storage disease, type II [RCV002165605]	likely benign	17	80105141	80105141	Human	1	name
152033226	CV1657872	single nucleotide variant	NM_000152.5(GAA):c.693-6C>T	Glycogen storage disease, type II [RCV002187047]	likely benign	17	80107551	80107551	Human	1	name
152066343	CV1664127	single nucleotide variant	NM_000152.5(GAA):c.546+7A>G	Glycogen storage disease, type II [RCV002074503]	likely benign	17	80105139	80105139	Human	1	name
156345464	CV1868267	single nucleotide variant	NM_000152.5(GAA):c.546+2T>C	Glycogen storage disease, type II [RCV003064492]	likely pathogenic	17	80105134	80105134	Human	1	name
156290568	CV1881800	single nucleotide variant	NM_000152.5(GAA):c.546+5G>A	Glycogen storage disease, type II [RCV003061440]\|not provided [RCV003314053]	uncertain significance	17	80105137	80105137	Human	1	name
156295625	CV1888548	single nucleotide variant	NM_000152.5(GAA):c.859-4C>G	Glycogen storage disease, type II [RCV003061647]	likely benign	17	80107796	80107796	Human	1	name
155981253	CV2073969	single nucleotide variant	NM_000152.5(GAA):c.692+8C>G	Glycogen storage disease, type II [RCV002842529]	likely benign	17	80105902	80105902	Human	1	name
155978666	CV2081767	single nucleotide variant	NM_000152.5(GAA):c.858+9G>A	Glycogen storage disease, type II [RCV002863659]	likely benign	17	80107731	80107731	Human	1	name
156360991	CV2126456	deletion	NM_000152.5(GAA):c.-32-3del	Glycogen storage disease, type II [RCV002966981]	uncertain significance	17	80104552	80104552	Human	1	name
156114547	CV2154427	single nucleotide variant	NM_000152.5(GAA):c.693-2A>C	Glycogen storage disease, type II [RCV003021550]	likely pathogenic	17	80107555	80107555	Human	1	name
11637597	CV265334	single nucleotide variant	NM_000152.5(GAA):c.693-4G>T	Glycogen storage disease, type II [RCV001079986]\|not provided [RCV000723555]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80107553	80107553	Human	1	name
11636282	CV268003	single nucleotide variant	NM_000152.5(GAA):c.858+4C>G	Glycogen storage disease, type II [RCV001211480]\|not provided [RCV000264924]	uncertain significance	17	80107726	80107726	Human	1	name
11639973	CV268594	single nucleotide variant	NM_000152.5(GAA):c.546+6C>T	Glycogen storage disease, type II [RCV000818055]\|not provided [RCV000330299]\|not specified [RCV003323491]	uncertain significance	17	80105138	80105138	Human	1	name
11640689	CV269693	single nucleotide variant	NM_000152.5(GAA):c.546+3G>A	Glycogen storage disease, type II [RCV000692313]\|not provided [RCV000342404]\|not specified [RCV004689702]	uncertain significance	17	80105135	80105135	Human	1	name
11642735	CV272639	single nucleotide variant	NM_000152.5(GAA):c.692+9T>C	Glycogen storage disease, type II [RCV001082113]\|not provided [RCV000726158]\|not specified [RCV000379348]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80105903	80105903	Human	1	name
401941274	CV2835899	single nucleotide variant	NM_000152.5(GAA):c.858+1G>A	Glycogen storage disease, type II [RCV003461614]	likely pathogenic	17	80107723	80107723	Human	1	name
402469499	CV2891218	single nucleotide variant	NM_000152.5(GAA):c.693-6C>G	Glycogen storage disease, type II [RCV003504113]	likely benign	17	80107551	80107551	Human	1	name
405130691	CV2902268	single nucleotide variant	NM_000152.5(GAA):c.956-7C>G	Glycogen storage disease, type II [RCV003502104]	likely benign	17	80108283	80108283	Human	1	name
402469214	CV2924159	single nucleotide variant	NM_000152.5(GAA):c.955+9C>T	Glycogen storage disease, type II [RCV003504034]	likely benign	17	80107905	80107905	Human	1	name
402466656	CV2931672	single nucleotide variant	NM_000152.5(GAA):c.859-1G>C	Glycogen storage disease, type II [RCV003503334]	likely pathogenic	17	80107799	80107799	Human	1	name
402466661	CV2931756	single nucleotide variant	NM_000152.5(GAA):c.693-9G>C	Glycogen storage disease, type II [RCV003503335]	likely benign	17	80107548	80107548	Human	1	name
405032587	CV3013630	single nucleotide variant	NM_000152.5(GAA):c.859-7G>A	Glycogen storage disease, type II [RCV003608967]	likely benign	17	80107793	80107793	Human	1	name
405052188	CV3032739	single nucleotide variant	NM_000152.5(GAA):c.693-7C>T	Glycogen storage disease, type II [RCV003610613]	likely benign	17	80107550	80107550	Human	1	name
405114434	CV3115434	single nucleotide variant	NM_000152.5(GAA):c.692+1G>T	Glycogen storage disease, type II [RCV003814116]	pathogenic	17	80105895	80105895	Human	1	name
405868841	CV3400626	deletion	NM_000152.5(GAA):c.955+1del	Glycogen storage disease, type II [RCV004576629]	likely pathogenic	17	80107895	80107895	Human	1	name
405868845	CV3400628	single nucleotide variant	NM_000152.5(GAA):c.546+1G>T	Glycogen storage disease, type II [RCV004576631]	pathogenic	17	80105133	80105133	Human	1	name
12740606	CV358483	single nucleotide variant	NM_000152.5(GAA):c.-32-3C>A	Glycogen storage disease, type II [RCV000412452]	pathogenic\|likely pathogenic	17	80104552	80104552	Human	1	name
12834056	CV376636	single nucleotide variant	NM_000152.5(GAA):c.-32-4G>A	not specified [RCV000419677]	likely benign	17	80104551	80104551	Human		name
597927133	CV3778589	single nucleotide variant	NM_000152.5(GAA):c.693-1G>A	Glycogen storage disease, type II [RCV005131112]	likely pathogenic	17	80107556	80107556	Human	1	name
13501528	CV467632	deletion	NM_000152.5(GAA):c.693-5del	Glycogen storage disease, type II [RCV000541308]	likely benign	17	80107550	80107550	Human	1	name
13465673	CV468993	single nucleotide variant	NM_000152.5(GAA):c.693-4G>A	Glycogen storage disease, type II [RCV000548027]	likely benign	17	80107553	80107553	Human	1	name
13517972	CV488012	single nucleotide variant	NM_000152.5(GAA):c.858+2T>A	Glycogen storage disease, type II [RCV000586360]	likely pathogenic	17	80107724	80107724	Human	1	name
13516277	CV488591	single nucleotide variant	NM_000152.5(GAA):c.546+8G>A	Glycogen storage disease, type II [RCV001089284]\|not provided [RCV000595321]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80105140	80105140	Human	1	name
13541608	CV506437	single nucleotide variant	NM_000152.5(GAA):c.-32-5C>T	Glycogen storage disease, type II [RCV004732486]\|not provided [RCV001712622]	likely benign\|uncertain significance	17	80104550	80104550	Human	1	name
13613256	CV531967	single nucleotide variant	NM_000152.5(GAA):c.692+5G>T	Glycogen storage disease, type II [RCV000631076]\|not provided [RCV001784204]	pathogenic\|likely pathogenic\|uncertain significance	17	80105899	80105899	Human	1	name
13788500	CV548372	single nucleotide variant	NM_000152.5(GAA):c.546+5G>T	Glycogen storage disease, type II [RCV000673997]\|not provided [RCV003140073]	conflicting interpretations of pathogenicity\|uncertain significance	17	80105137	80105137	Human	1	name
13782865	CV548379	single nucleotide variant	NM_000152.5(GAA):c.692+2T>C	Glycogen storage disease, type II [RCV000669406]	pathogenic\|likely pathogenic	17	80105896	80105896	Human	1	name
13787652	CV548765	single nucleotide variant	NM_000152.5(GAA):c.-32-1G>C	Glycogen storage disease, type II [RCV000673571]	likely pathogenic	17	80104554	80104554	Human	1	name
14729356	CV653052	single nucleotide variant	NM_000152.5(GAA):c.859-3C>T	Glycogen storage disease, type II [RCV000800450]	uncertain significance	17	80107797	80107797	Human	1	name
15119968	CV695780	single nucleotide variant	NM_000152.5(GAA):c.693-5C>T	Glycogen storage disease, type II [RCV000873973]\|not provided [RCV003145216]	likely benign\|uncertain significance	17	80107552	80107552	Human	1	name
15176948	CV776550	single nucleotide variant	NM_000152.5(GAA):c.546+7A>C	Glycogen storage disease, type II [RCV000929040]	likely benign	17	80105139	80105139	Human	1	name
26900537	CV852923	single nucleotide variant	NM_000152.5(GAA):c.956-8C>A	Glycogen storage disease, type II [RCV001071307]	likely benign\|uncertain significance	17	80108282	80108282	Human	1	name
38472933	CV921200	single nucleotide variant	NM_000152.5(GAA):c.955+1G>A	Glycogen storage disease, type II [RCV001200873]	pathogenic	17	80107897	80107897	Human	1	name
38462943	CV961109	single nucleotide variant	NM_000152.5(GAA):c.-32-2A>G	Glycogen storage disease, type II [RCV001249079]	pathogenic\|likely pathogenic	17	80104553	80104553	Human	1	name
38462787	CV961113	single nucleotide variant	NM_000152.5(GAA):c.692+1G>A	Glycogen storage disease, type II [RCV001249007]	pathogenic	17	80105895	80105895	Human	1	name
38462789	CV961114	single nucleotide variant	NM_000152.5(GAA):c.692+1G>C	Glycogen storage disease, type II [RCV001249008]\|not provided [RCV004719116]	pathogenic	17	80105895	80105895	Human	1	name
8639410	CV98394	single nucleotide variant	NM_000152.5(GAA):c.547-4C>G	Cardiovascular phenotype [RCV002345391]\|Glycogen storage disease, type II [RCV000369731]\|not provided [RCV000675216]\|not specified [RCV000078182]	benign\|conflicting interpretations of pathogenicity	17	80105745	80105745	Human	2	name
126727097	CV998015	single nucleotide variant	NM_000152.5(GAA):c.955+5G>A	Glycogen storage disease, type II [RCV001304641]	uncertain significance	17	80107901	80107901	Human	1	name
126745160	CV1013211	single nucleotide variant	NM_000152.5(GAA):c.-32-13T>C	Glycogen storage disease, type II [RCV001325856]\|not specified [RCV001844284]	uncertain significance	17	80104542	80104542	Human	1	name
126768704	CV1013218	single nucleotide variant	NM_000152.5(GAA):c.1327-7T>G	Glycogen storage disease, type II [RCV001321518]	uncertain significance	17	80109938	80109938	Human	1	name
126772670	CV1033726	single nucleotide variant	NM_000152.5(GAA):c.2331+4A>C	Glycogen storage disease, type II [RCV001345752]	uncertain significance	17	80117113	80117113	Human	1	name
126911198	CV1053481	single nucleotide variant	NM_000152.5(GAA):c.1551+1G>A	Glycogen storage disease, type II [RCV001375542]	pathogenic	17	80110841	80110841	Human	1	name
127231606	CV1083683	single nucleotide variant	NM_000152.5(GAA):c.693-10T>C	Glycogen storage disease, type II [RCV001401674]	likely benign	17	80107547	80107547	Human	1	name
127231584	CV1083686	single nucleotide variant	NM_000152.5(GAA):c.1076-4G>T	Glycogen storage disease, type II [RCV001399018]	likely benign	17	80108485	80108485	Human	1	name
127231640	CV1083689	single nucleotide variant	NM_000152.5(GAA):c.1194+8G>T	Glycogen storage disease, type II [RCV001404676]	likely benign	17	80108615	80108615	Human	1	name
127231737	CV1083692	single nucleotide variant	NM_000152.5(GAA):c.1327-5C>A	Glycogen storage disease, type II [RCV001411895]	likely benign	17	80109940	80109940	Human	1	name
127231565	CV1083694	single nucleotide variant	NM_000152.5(GAA):c.1438-7T>C	Glycogen storage disease, type II [RCV001398153]	likely benign	17	80110720	80110720	Human	1	name
127231539	CV1083695	single nucleotide variant	NM_000152.5(GAA):c.1551+7G>A	Glycogen storage disease, type II [RCV001395575]	likely benign	17	80110847	80110847	Human	1	name
127231523	CV1083702	single nucleotide variant	NM_000152.5(GAA):c.2040+8G>A	Glycogen storage disease, type II [RCV001393610]	likely benign	17	80113035	80113035	Human	1	name
127231552	CV1083713	single nucleotide variant	NM_000152.5(GAA):c.2482-8C>T	Glycogen storage disease, type II [RCV001396401]	likely benign	17	80118185	80118185	Human	1	name
127231562	CV1083718	single nucleotide variant	NM_000152.5(GAA):c.2646+8C>A	Glycogen storage disease, type II [RCV001397542]	likely benign	17	80118365	80118365	Human	1	name
127281748	CV1105500	single nucleotide variant	NM_000152.5(GAA):c.1195-9T>C	Glycogen storage disease, type II [RCV001447333]	likely benign	17	80108688	80108688	Human	1	name
127246362	CV1105501	single nucleotide variant	NM_000152.5(GAA):c.1195-5T>C	Glycogen storage disease, type II [RCV001424503]	likely benign	17	80108692	80108692	Human	1	name
127259727	CV1105506	single nucleotide variant	NM_000152.5(GAA):c.1637-9C>T	Glycogen storage disease, type II [RCV001438408]	likely benign	17	80111974	80111974	Human	1	name
127284104	CV1105509	single nucleotide variant	NM_000152.5(GAA):c.1754+9C>G	Glycogen storage disease, type II [RCV001448971]	likely benign	17	80112109	80112109	Human	1	name
127275188	CV1105510	single nucleotide variant	NM_000152.5(GAA):c.2041-7C>T	Glycogen storage disease, type II [RCV001443232]	likely benign	17	80113211	80113211	Human	1	name
127258740	CV1105511	single nucleotide variant	NM_000152.5(GAA):c.2041-4G>A	Glycogen storage disease, type II [RCV001438223]	likely benign	17	80113214	80113214	Human	1	name
127249265	CV1105517	single nucleotide variant	NM_000152.5(GAA):c.2189+9C>G	Glycogen storage disease, type II [RCV001425076]	likely benign	17	80113375	80113375	Human	1	name
127280577	CV1105521	single nucleotide variant	NM_000152.5(GAA):c.2482-8C>A	Glycogen storage disease, type II [RCV001446559]	likely benign	17	80118185	80118185	Human	1	name
127258472	CV1105522	single nucleotide variant	NM_000152.5(GAA):c.2482-8C>G	Glycogen storage disease, type II [RCV001438127]	likely benign	17	80118185	80118185	Human	1	name
127269576	CV1105523	single nucleotide variant	NM_000152.5(GAA):c.2647-8C>G	Glycogen storage disease, type II [RCV001430315]	likely benign	17	80118645	80118645	Human	1	name
127302299	CV1126903	deletion	NM_000152.5(GAA):c.2646+8del	Glycogen storage disease, type II [RCV001454414]	likely benign	17	80118364	80118364	Human	1	name
127318008	CV1147781	single nucleotide variant	NM_000152.5(GAA):c.1326+8C>T	Glycogen storage disease, type II [RCV001483358]	likely benign	17	80108836	80108836	Human	1	name
127296024	CV1147784	single nucleotide variant	NM_000152.5(GAA):c.1437+7C>G	Glycogen storage disease, type II [RCV001497386]	likely benign	17	80110062	80110062	Human	1	name
127319904	CV1147788	single nucleotide variant	NM_000152.5(GAA):c.1551+7G>T	Glycogen storage disease, type II [RCV001504239]	likely benign	17	80110847	80110847	Human	1	name
127333551	CV1147789	single nucleotide variant	NM_000152.5(GAA):c.1552-8T>C	Glycogen storage disease, type II [RCV001490260]	likely benign	17	80110933	80110933	Human	1	name
127289668	CV1147791	single nucleotide variant	NM_000152.5(GAA):c.1636+9G>A	Glycogen storage disease, type II [RCV001495713]	likely benign	17	80111034	80111034	Human	1	name
127337495	CV1147799	single nucleotide variant	NM_000152.5(GAA):c.2481+7G>A	Glycogen storage disease, type II [RCV001492880]	likely benign	17	80117756	80117756	Human	1	name
127307942	CV1147805	single nucleotide variant	NM_000152.5(GAA):c.2646+9T>C	Glycogen storage disease, type II [RCV001500672]	likely benign	17	80118366	80118366	Human	1	name
150426746	CV1188602	single nucleotide variant	NM_000152.5(GAA):c.-32-84G>A	not provided [RCV001559971]	likely benign	17	80104471	80104471	Human		name
150417008	CV1198986	single nucleotide variant	NM_000152.5(GAA):c.956-31T>C	not provided [RCV001576118]	likely benign	17	80108259	80108259	Human		name
150451752	CV1207267	single nucleotide variant	NM_000152.5(GAA):c.2482-2A>G	Glycogen storage disease, type II [RCV001582397]	pathogenic\|likely pathogenic	17	80118191	80118191	Human	1	name
150501840	CV1224304	single nucleotide variant	NM_000152.5(GAA):c.693-78C>T	not provided [RCV001620945]	benign	17	80107479	80107479	Human		name
150442807	CV1249179	single nucleotide variant	NM_000152.5(GAA):c.956-84C>T	not provided [RCV001666611]	benign	17	80108206	80108206	Human		name
150439478	CV1264973	single nucleotide variant	NM_000152.5(GAA):c.692+38C>T	not provided [RCV001678966]	benign	17	80105932	80105932	Human		name
150544698	CV1296909	single nucleotide variant	NM_000152.5(GAA):c.2332-2A>G	Glycogen storage disease, type II [RCV002034486]\|not provided [RCV001774199]	likely pathogenic\|uncertain significance	17	80117598	80117598	Human	1	name
150544362	CV1297929	single nucleotide variant	NM_000152.5(GAA):c.2800-2A>G	not provided [RCV001772837]	uncertain significance	17	80119270	80119270	Human		name
150532384	CV1299740	single nucleotide variant	NM_000152.5(GAA):c.1437+3A>G	not provided [RCV001752666]	uncertain significance	17	80110058	80110058	Human		name
150544301	CV1313252	single nucleotide variant	NM_000152.5(GAA):c.1438-2A>C	not provided [RCV001783332]	pathogenic	17	80110725	80110725	Human		name
150540583	CV1314708	single nucleotide variant	NM_000152.5(GAA):c.2646+1G>A	Glycogen storage disease, type II [RCV002541194]\|not provided [RCV001781141]	pathogenic\|likely pathogenic	17	80118358	80118358	Human	1	name
151349576	CV1321398	single nucleotide variant	NM_000152.5(GAA):c.547-41G>C	Glycogen storage disease, type II [RCV001802379]	likely benign	17	80105708	80105708	Human	1	name
151757344	CV1340380	single nucleotide variant	NM_000152.5(GAA):c.2189+3G>C	Glycogen storage disease, type II [RCV001913588]	conflicting interpretations of pathogenicity\|uncertain significance	17	80113369	80113369	Human	1	name
151783630	CV1343816	single nucleotide variant	NM_000152.5(GAA):c.1075+2T>A	Glycogen storage disease, type II [RCV002046393]	likely pathogenic	17	80108411	80108411	Human	1	name
151796885	CV1356190	single nucleotide variant	NM_000152.5(GAA):c.1437+7C>T	Glycogen storage disease, type II [RCV002027729]	likely benign\|uncertain significance	17	80110062	80110062	Human	1	name
151790028	CV1393009	single nucleotide variant	NM_000152.5(GAA):c.1194+3G>T	Glycogen storage disease, type II [RCV001931325]	uncertain significance	17	80108610	80108610	Human	1	name
151819199	CV1421034	single nucleotide variant	NM_000152.5(GAA):c.1076-1G>C	Glycogen storage disease, type II [RCV002049620]	pathogenic	17	80108488	80108488	Human	1	name
151748275	CV1428832	single nucleotide variant	NM_000152.5(GAA):c.858+17C>T	Glycogen storage disease, type II [RCV001985995]	likely benign\|uncertain significance	17	80107739	80107739	Human	1	name
151823935	CV1429262	single nucleotide variant	NM_000152.5(GAA):c.859-10C>T	Glycogen storage disease, type II [RCV001993055]	likely benign\|uncertain significance	17	80107790	80107790	Human	1	name
151873366	CV1445058	single nucleotide variant	NM_000152.5(GAA):c.1637-2A>G	Glycogen storage disease, type II [RCV001960734]	pathogenic	17	80111981	80111981	Human	1	name
151738653	CV1455091	single nucleotide variant	NM_000152.5(GAA):c.1326+6T>C	Glycogen storage disease, type II [RCV002005592]	uncertain significance	17	80108834	80108834	Human	1	name
151834825	CV1474519	single nucleotide variant	NM_000152.5(GAA):c.1076-3C>T	Glycogen storage disease, type II [RCV001920859]\|not provided [RCV003134240]	uncertain significance	17	80108486	80108486	Human	1	name
151794003	CV1482673	single nucleotide variant	NM_000152.5(GAA):c.1552-3C>T	Glycogen storage disease, type II [RCV002047371]	uncertain significance	17	80110938	80110938	Human	1	name
151848009	CV1484106	single nucleotide variant	NM_000152.5(GAA):c.693-13C>T	Glycogen storage disease, type II [RCV001903706]	likely benign	17	80107544	80107544	Human	1	name
151800360	CV1494138	single nucleotide variant	NM_000152.5(GAA):c.2040+1G>C	Glycogen storage disease, type II [RCV001952864]	pathogenic	17	80113028	80113028	Human	1	name
152115487	CV1526172	single nucleotide variant	NM_000152.5(GAA):c.546+16G>C	Glycogen storage disease, type II [RCV002174874]	likely benign	17	80105148	80105148	Human	1	name
152097492	CV1534268	single nucleotide variant	NM_000152.5(GAA):c.858+18G>A	Glycogen storage disease, type II [RCV002095047]	likely benign	17	80107740	80107740	Human	1	name
152104793	CV1536562	single nucleotide variant	NM_000152.5(GAA):c.858+11G>A	Glycogen storage disease, type II [RCV002173567]	likely benign	17	80107733	80107733	Human	1	name
152112586	CV1539314	single nucleotide variant	NM_000152.5(GAA):c.955+14C>T	Glycogen storage disease, type II [RCV002080454]	likely benign	17	80107910	80107910	Human	1	name
152143942	CV1543059	single nucleotide variant	NM_000152.5(GAA):c.955+10C>A	Glycogen storage disease, type II [RCV002178433]	likely benign	17	80107906	80107906	Human	1	name
152144101	CV1543083	single nucleotide variant	NM_000152.5(GAA):c.1438-9G>T	Glycogen storage disease, type II [RCV002178457]	likely benign	17	80110718	80110718	Human	1	name
152171320	CV1544091	single nucleotide variant	NM_000152.5(GAA):c.955+15G>A	Glycogen storage disease, type II [RCV002162068]	likely benign	17	80107911	80107911	Human	1	name
152120552	CV1547283	single nucleotide variant	NM_000152.5(GAA):c.956-17A>T	Glycogen storage disease, type II [RCV002154200]	likely benign	17	80108273	80108273	Human	1	name
152128968	CV1549148	single nucleotide variant	NM_000152.5(GAA):c.2482-9C>T	Glycogen storage disease, type II [RCV002099219]	likely benign	17	80118184	80118184	Human	1	name
152168564	CV1558811	single nucleotide variant	NM_000152.5(GAA):c.2646+7C>G	Glycogen storage disease, type II [RCV002142492]	likely benign	17	80118364	80118364	Human	1	name
152060206	CV1559160	single nucleotide variant	NM_000152.5(GAA):c.859-19C>T	Glycogen storage disease, type II [RCV002167909]	likely benign	17	80107781	80107781	Human	1	name
152076970	CV1564599	single nucleotide variant	NM_000152.5(GAA):c.2189+9C>T	Glycogen storage disease, type II [RCV002192540]	likely benign	17	80113375	80113375	Human	1	name
152173102	CV1572787	single nucleotide variant	NM_000152.5(GAA):c.2041-9G>A	Glycogen storage disease, type II [RCV002162685]	likely benign	17	80113209	80113209	Human	1	name
152053884	CV1573392	single nucleotide variant	NM_000152.5(GAA):c.1438-6G>C	Glycogen storage disease, type II [RCV002207846]	likely benign	17	80110721	80110721	Human	1	name
152129159	CV1583853	single nucleotide variant	NM_000152.5(GAA):c.2800-6T>C	Glycogen storage disease, type II [RCV002199090]	likely benign	17	80119266	80119266	Human	1	name
152067712	CV1600292	single nucleotide variant	NM_000152.5(GAA):c.546+12A>G	Glycogen storage disease, type II [RCV002111016]	likely benign	17	80105144	80105144	Human	1	name
152042247	CV1603404	single nucleotide variant	NM_000152.5(GAA):c.693-13C>G	Glycogen storage disease, type II [RCV002071171]	likely benign	17	80107544	80107544	Human	1	name
152149610	CV1616858	single nucleotide variant	NM_000152.5(GAA):c.692+16T>C	Glycogen storage disease, type II [RCV002201765]	likely benign	17	80105910	80105910	Human	1	name
152057306	CV1618912	single nucleotide variant	NM_000152.5(GAA):c.692+12G>A	Glycogen storage disease, type II [RCV002127937]	likely benign	17	80105906	80105906	Human	1	name
152172670	CV1641692	single nucleotide variant	NM_000152.5(GAA):c.2040+8G>T	Glycogen storage disease, type II [RCV002183917]	likely benign	17	80113035	80113035	Human	1	name
152172695	CV1641702	single nucleotide variant	NM_000152.5(GAA):c.693-19G>C	Glycogen storage disease, type II [RCV002183927]	likely benign	17	80107538	80107538	Human	1	name
152147519	CV1647301	single nucleotide variant	NM_000152.5(GAA):c.955+17C>T	Glycogen storage disease, type II [RCV002201458]	likely benign	17	80107913	80107913	Human	1	name
152065210	CV1652526	single nucleotide variant	NM_000152.5(GAA):c.692+12G>T	Glycogen storage disease, type II [RCV002090808]	likely benign	17	80105906	80105906	Human	1	name
152028192	CV1655120	single nucleotide variant	NM_000152.5(GAA):c.1754+8C>T	Glycogen storage disease, type II [RCV002105150]	likely benign	17	80112108	80112108	Human	1	name
152028502	CV1655264	single nucleotide variant	NM_000152.5(GAA):c.2332-8C>T	Glycogen storage disease, type II [RCV002105255]	likely benign	17	80117592	80117592	Human	1	name
152138206	CV1657797	single nucleotide variant	NM_000152.5(GAA):c.1437+8G>C	Glycogen storage disease, type II [RCV002177701]	likely benign	17	80110063	80110063	Human	1	name
152145415	CV1661674	single nucleotide variant	NM_000152.5(GAA):c.956-11T>C	Glycogen storage disease, type II [RCV002157352]	likely benign	17	80108279	80108279	Human	1	name
152126321	CV1665909	single nucleotide variant	NM_000152.5(GAA):c.546+17C>T	Glycogen storage disease, type II [RCV002198722]	likely benign	17	80105149	80105149	Human	1	name
152034895	CV1666340	single nucleotide variant	NM_000152.5(GAA):c.1552-7C>T	Glycogen storage disease, type II [RCV002106822]	likely benign	17	80110934	80110934	Human	1	name
152983428	CV1679256	single nucleotide variant	NM_000152.5(GAA):c.1754+2T>G	not provided [RCV002250422]	not provided	17	80112102	80112102	Human		name
155266735	CV1696355	single nucleotide variant	NM_000152.5(GAA):c.1755-4C>T	Muscular dystrophy [RCV002281213]	uncertain significance	17	80112574	80112574	Human	2	name
9688680	CV177734	single nucleotide variant	NM_000152.5(GAA):c.858+30T>C	Glycogen storage disease, type II [RCV001537765]\|not provided [RCV001640191]\|not specified [RCV000153287]	benign	17	80107752	80107752	Human	1	name
10042505	CV187003	single nucleotide variant	NM_000152.5(GAA):c.1438-1G>C	Glycogen storage disease, type II [RCV000169615]\|not provided [RCV000727411]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	80110726	80110726	Human	1	name
10042480	CV187019	single nucleotide variant	NM_000152.5(GAA):c.2646+2T>A	Glycogen storage disease, type II [RCV000169291]\|not provided [RCV001781525]	pathogenic\|likely pathogenic	17	80118359	80118359	Human	1	name
155996747	CV1875928	single nucleotide variant	NM_000152.5(GAA):c.2332-7C>T	Glycogen storage disease, type II [RCV003076381]	likely benign	17	80117593	80117593	Human	1	name
156373974	CV1901988	single nucleotide variant	NM_000152.5(GAA):c.859-14C>T	Glycogen storage disease, type II [RCV003092702]	likely benign	17	80107786	80107786	Human	1	name
8557854	CV19066	single nucleotide variant	NM_000152.5(GAA):c.-32-13T>G	Cardiovascular phenotype [RCV002321471]\|GAA-related disorder [RCV003415646]\|GLYCOGEN STORAGE DISEASE II, ADULT FORM [RCV000004242]\|Glycogen storage disease due to acid maltase deficiency, late-onset [RCV002225068]\|Glycogen storage disease, type II [RCV000055770] ... (more) \|Glycogen storage disease, type IV [RCV002288463]\|Myopathy [RCV000626740]\|See cases [RCV004797752]\|not provided [RCV000153285]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	80104542	80104542	Human	6	name , alternate_id
10050142	CV191484	single nucleotide variant	NM_000152.5(GAA):c.1889-5C>T	Glycogen storage disease, type II [RCV001128431]\|not provided [RCV000174661]	conflicting interpretations of pathogenicity\|uncertain significance	17	80112871	80112871	Human	1	name
156414184	CV1915795	single nucleotide variant	NM_000152.5(GAA):c.546+16G>A	Glycogen storage disease, type II [RCV002588459]	likely benign	17	80105148	80105148	Human	1	name
156284890	CV1929671	single nucleotide variant	NM_000152.5(GAA):c.2482-9C>A	Glycogen storage disease, type II [RCV002628570]	likely benign	17	80118184	80118184	Human	1	name
156441760	CV1941415	single nucleotide variant	NM_000152.5(GAA):c.546+20G>A	Glycogen storage disease, type II [RCV003112092]	likely benign	17	80105152	80105152	Human	1	name
156440620	CV1943673	single nucleotide variant	NM_000152.5(GAA):c.1075+5G>A	Glycogen storage disease, type II [RCV003110656]	uncertain significance	17	80108414	80108414	Human	1	name
156445294	CV1945297	single nucleotide variant	NM_000152.5(GAA):c.2481+4C>G	Glycogen storage disease, type II [RCV003116234]\|not specified [RCV003988081]	uncertain significance	17	80117753	80117753	Human	1	name
10052713	CV195208	single nucleotide variant	NM_000152.5(GAA):c.1075+4G>A	Glycogen storage disease, type II [RCV000812980]\|not provided [RCV000179260]\|not specified [RCV003488429]	uncertain significance	17	80108413	80108413	Human	1	name
156445876	CV1952127	single nucleotide variant	NM_000152.5(GAA):c.955+43G>C	Glycogen storage disease, type II [RCV003116839]	likely benign	17	80107939	80107939	Human	1	name
10052944	CV195554	single nucleotide variant	NM_000152.5(GAA):c.1194+3G>C	GAA-related disorder [RCV004751345]\|Glycogen storage disease, type II [RCV000631083]\|not provided [RCV000179720]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	80108610	80108610	Human	1	name , alternate_id
156407558	CV1957528	single nucleotide variant	NM_000152.5(GAA):c.2646+3G>A	Glycogen storage disease, type II [RCV002586265]	uncertain significance	17	80118360	80118360	Human	1	name
156406270	CV1963545	single nucleotide variant	NM_000152.5(GAA):c.693-19G>T	Glycogen storage disease, type II [RCV002585849]	likely benign	17	80107538	80107538	Human	1	name
156048248	CV1978145	single nucleotide variant	NM_000152.5(GAA):c.859-14C>G	Glycogen storage disease, type II [RCV002590573]	likely benign	17	80107786	80107786	Human	1	name
156399813	CV1982174	single nucleotide variant	NM_000152.5(GAA):c.955+18C>T	Glycogen storage disease, type II [RCV002635861]	likely benign	17	80107914	80107914	Human	1	name
156182594	CV1997579	single nucleotide variant	NM_000152.5(GAA):c.2040+2T>G	Glycogen storage disease, type II [RCV002643069]	pathogenic\|likely pathogenic	17	80113029	80113029	Human	1	name
156112844	CV1998616	single nucleotide variant	NM_000152.5(GAA):c.955+11C>T	Glycogen storage disease, type II [RCV002640010]	likely benign	17	80107907	80107907	Human	1	name
156223123	CV2005819	single nucleotide variant	NM_000152.5(GAA):c.1754+2T>C	Glycogen storage disease, type II [RCV002667301]	pathogenic	17	80112102	80112102	Human	1	name
156026633	CV2016493	single nucleotide variant	NM_000152.5(GAA):c.2646+4A>G	Glycogen storage disease, type II [RCV002691257]	uncertain significance	17	80118361	80118361	Human	1	name
156100523	CV2042167	single nucleotide variant	NM_000152.5(GAA):c.2800-1G>A	Glycogen storage disease, type II [RCV002761303]	uncertain significance	17	80119271	80119271	Human	1	name
155916494	CV2063185	single nucleotide variant	NM_000152.5(GAA):c.1888+5G>C	Glycogen storage disease, type II [RCV002838089]	uncertain significance	17	80112716	80112716	Human	1	name
156292219	CV2065109	single nucleotide variant	NM_000152.5(GAA):c.1551+6T>C	Glycogen storage disease, type II [RCV002856801]	uncertain significance	17	80110846	80110846	Human	1	name
156156176	CV2067124	single nucleotide variant	NM_000152.5(GAA):c.1551+4A>C	Glycogen storage disease, type II [RCV002851041]	uncertain significance	17	80110844	80110844	Human	1	name
156118420	CV2086725	single nucleotide variant	NM_000152.5(GAA):c.1194+9G>T	Glycogen storage disease, type II [RCV002871166]	likely benign	17	80108616	80108616	Human	1	name
156213736	CV2088879	single nucleotide variant	NM_000152.5(GAA):c.2332-9T>C	Glycogen storage disease, type II [RCV002893901]	likely benign	17	80117591	80117591	Human	1	name
155979752	CV2094043	single nucleotide variant	NM_000152.5(GAA):c.1755-9C>T	Glycogen storage disease, type II [RCV002881875]	likely benign	17	80112569	80112569	Human	1	name
156034518	CV2112670	single nucleotide variant	NM_000152.5(GAA):c.1327-5C>T	Glycogen storage disease, type II [RCV002910212]	likely benign	17	80109940	80109940	Human	1	name
156354319	CV2119007	single nucleotide variant	NM_000152.5(GAA):c.2647-2A>G	Glycogen storage disease, type II [RCV002966541]	likely pathogenic	17	80118651	80118651	Human	1	name
156125447	CV2144766	single nucleotide variant	NM_000152.5(GAA):c.2041-9G>T	Glycogen storage disease, type II [RCV003003150]	likely benign	17	80113209	80113209	Human	1	name
155924835	CV2144974	single nucleotide variant	NM_000152.5(GAA):c.1326+7G>A	Glycogen storage disease, type II [RCV003013355]	likely benign	17	80108835	80108835	Human	1	name
155993338	CV2147748	deletion	NM_000152.5(GAA):c.1075+8del	Glycogen storage disease, type II [RCV003016935]	likely benign	17	80108416	80108416	Human	1	name
155989382	CV2151148	single nucleotide variant	NM_000152.5(GAA):c.1327-9T>C	Glycogen storage disease, type II [RCV003016751]	likely benign	17	80109936	80109936	Human	1	name
155990426	CV2151247	single nucleotide variant	NM_000152.5(GAA):c.2646+4A>C	Glycogen storage disease, type II [RCV003016801]	uncertain significance	17	80118361	80118361	Human	1	name
155910051	CV2156910	single nucleotide variant	NM_000152.5(GAA):c.1076-7C>T	Glycogen storage disease, type II [RCV003012185]	likely benign	17	80108482	80108482	Human	1	name
156252187	CV2157727	single nucleotide variant	NM_000152.5(GAA):c.1755-5C>T	Glycogen storage disease, type II [RCV003008480]	likely benign	17	80112573	80112573	Human	1	name
156073370	CV2165298	single nucleotide variant	NM_000152.5(GAA):c.692+20C>T	Glycogen storage disease, type II [RCV003037636]	likely benign	17	80105914	80105914	Human	1	name
156321442	CV2166568	single nucleotide variant	NM_000152.5(GAA):c.2799+4A>T	Glycogen storage disease, type II [RCV003029190]	uncertain significance	17	80118809	80118809	Human	1	name
156222140	CV2173327	single nucleotide variant	NM_000152.5(GAA):c.2331+6T>G	Glycogen storage disease, type II [RCV003025236]	uncertain significance	17	80117115	80117115	Human	1	name
156175638	CV2181435	single nucleotide variant	NM_000152.5(GAA):c.858+19G>T	Glycogen storage disease, type II [RCV003057360]	likely benign	17	80107741	80107741	Human	1	name
156360052	CV2184086	single nucleotide variant	NM_000152.5(GAA):c.1326+8C>G	Glycogen storage disease, type II [RCV003048960]	likely benign	17	80108836	80108836	Human	1	name
156399093	CV2187688	single nucleotide variant	NM_000152.5(GAA):c.859-18G>C	Glycogen storage disease, type II [RCV003052145]	likely benign	17	80107782	80107782	Human	1	name
243059735	CV2412484	single nucleotide variant	NM_000152.5(GAA):c.2189+4A>G	not provided [RCV003135294]	uncertain significance	17	80113370	80113370	Human		name
243056774	CV2414747	single nucleotide variant	NM_000152.5(GAA):c.1552-2A>C	not provided [RCV003145767]	likely pathogenic	17	80110939	80110939	Human		name
11546507	CV256515	single nucleotide variant	NM_000152.5(GAA):c.547-39T>G	Glycogen storage disease, type II [RCV001249010]\|not provided [RCV001651108]\|not specified [RCV000246553]	benign	17	80105710	80105710	Human	1	name
11552015	CV256518	single nucleotide variant	NM_000152.5(GAA):c.693-49C>T	Glycogen storage disease, type II [RCV001527129]\|not provided [RCV000835677]\|not specified [RCV000253814]	benign	17	80107508	80107508	Human	1	name
11545567	CV256519	single nucleotide variant	NM_000152.5(GAA):c.859-18G>A	Glycogen storage disease, type II [RCV002057317]\|not specified [RCV000245317]	likely benign	17	80107782	80107782	Human	1	name
11643734	CV265987	single nucleotide variant	NM_000152.5(GAA):c.546+18G>A	Glycogen storage disease, type II [RCV001001968]\|not provided [RCV000675215]\|not specified [RCV000398318]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80105150	80105150	Human	1	name
11637028	CV266599	single nucleotide variant	NM_000152.5(GAA):c.2647-8C>T	Glycogen storage disease, type II [RCV001000494]\|not provided [RCV001705410]\|not specified [RCV000278787]	benign\|likely benign	17	80118645	80118645	Human	1	name
329951794	CV2671387	single nucleotide variant	NM_000152.5(GAA):c.2481+1G>T	Glycogen storage disease, type II [RCV003236602]	likely pathogenic	17	80117750	80117750	Human	1	name
11643028	CV267686	single nucleotide variant	NM_000152.5(GAA):c.1195-4G>T	Glycogen storage disease, type II [RCV003609152]\|not provided [RCV000385088]	likely benign\|uncertain significance	17	80108693	80108693	Human	1	name
11637353	CV268208	single nucleotide variant	NM_000152.5(GAA):c.1888+5G>T	GAA-related disorder [RCV004751428]\|Glycogen storage disease, type II [RCV000692030]\|not provided [RCV000284467]\|not specified [RCV004782339]	uncertain significance	17	80112716	80112716	Human	1	name , alternate_id
11643326	CV268689	single nucleotide variant	NM_000152.5(GAA):c.2647-6G>A	Glycogen storage disease, type II [RCV001418402]\|not provided [RCV000725455]\|not specified [RCV000390653]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80118647	80118647	Human	1	name
11642853	CV270465	single nucleotide variant	NM_000152.5(GAA):c.2799+4A>G	Glycogen storage disease, type II [RCV000674123]\|not provided [RCV000382015]\|not specified [RCV004586662]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	80118809	80118809	Human	1	name
11651686	CV270695	single nucleotide variant	NM_000152.5(GAA):c.1754+1G>A	Glycogen storage disease, type II [RCV001200862]\|not provided [RCV000300474]	pathogenic	17	80112101	80112101	Human	1	name
401722257	CV2735593	single nucleotide variant	NM_000152.5(GAA):c.2799+5G>A	Glycogen storage disease, type II [RCV003307394]	uncertain significance	17	80118810	80118810	Human	1	name
11637458	CV275449	single nucleotide variant	NM_000152.5(GAA):c.1075+9T>C	Glycogen storage disease, type II [RCV001087978]\|not provided [RCV000726676]\|not specified [RCV000285215]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80108418	80108418	Human	1	name
401941353	CV2835871	single nucleotide variant	NM_000152.5(GAA):c.2799+2C>G	Glycogen storage disease, type II [RCV003461595]	likely pathogenic	17	80118807	80118807	Human	1	name
401941290	CV2835881	single nucleotide variant	NM_000152.5(GAA):c.1075+1G>T	Glycogen storage disease, type II [RCV003461602]	likely pathogenic	17	80108410	80108410	Human	1	name
401942767	CV2835884	single nucleotide variant	NM_000152.5(GAA):c.2332-1G>A	Glycogen storage disease, type II [RCV003468229]	likely pathogenic	17	80117599	80117599	Human	1	name
401942770	CV2835885	single nucleotide variant	NM_000152.5(GAA):c.1438-1G>A	Glycogen storage disease, type II [RCV003468230]	likely pathogenic	17	80110726	80110726	Human	1	name
401941265	CV2835888	single nucleotide variant	NM_000152.5(GAA):c.2331+1G>C	Glycogen storage disease, type II [RCV003461605]	likely pathogenic	17	80117110	80117110	Human	1	name
401941268	CV2835892	single nucleotide variant	NM_000152.5(GAA):c.1075+2T>C	Glycogen storage disease, type II [RCV003461608]	likely pathogenic	17	80108411	80108411	Human	1	name
401942783	CV2835893	single nucleotide variant	NM_000152.5(GAA):c.1194+2T>G	Glycogen storage disease, type II [RCV003468233]	likely pathogenic	17	80108609	80108609	Human	1	name
401941270	CV2835895	single nucleotide variant	NM_000152.5(GAA):c.2189+2T>A	Glycogen storage disease, type II [RCV003461610]	likely pathogenic	17	80113368	80113368	Human	1	name
401942794	CV2835902	single nucleotide variant	NM_000152.5(GAA):c.1636+1G>A	Glycogen storage disease, type II [RCV003468235]	likely pathogenic	17	80111026	80111026	Human	1	name
401941280	CV2835908	single nucleotide variant	NM_000152.5(GAA):c.2331+1G>A	Glycogen storage disease, type II [RCV003461620]	pathogenic	17	80117110	80117110	Human	1	name
401942806	CV2835910	single nucleotide variant	NM_000152.5(GAA):c.2331+4A>G	Glycogen storage disease, type II [RCV003468238]	likely pathogenic	17	80117113	80117113	Human	1	name
402464995	CV2861422	single nucleotide variant	NM_000152.5(GAA):c.955+13C>T	Glycogen storage disease, type II [RCV003502891]	likely benign	17	80107909	80107909	Human	1	name
402467371	CV2862816	single nucleotide variant	NM_000152.5(GAA):c.2040+9G>C	Glycogen storage disease, type II [RCV003503527]	likely benign	17	80113036	80113036	Human	1	name
402467506	CV2866735	single nucleotide variant	NM_000152.5(GAA):c.2482-1G>T	Glycogen storage disease, type II [RCV003503564]	likely pathogenic	17	80118192	80118192	Human	1	name
402467918	CV2866984	single nucleotide variant	NM_000152.5(GAA):c.1195-4G>A	Glycogen storage disease, type II [RCV003503642]	likely benign	17	80108693	80108693	Human	1	name
402467978	CV2867724	single nucleotide variant	NM_000152.5(GAA):c.956-13G>T	Glycogen storage disease, type II [RCV003503723]	likely benign	17	80108277	80108277	Human	1	name
402468188	CV2872013	single nucleotide variant	NM_000152.5(GAA):c.546+10G>A	Glycogen storage disease, type II [RCV003503779]	likely benign	17	80105142	80105142	Human	1	name
402468949	CV2879688	single nucleotide variant	NM_000152.5(GAA):c.547-15C>T	Glycogen storage disease, type II [RCV003503847]	likely benign	17	80105734	80105734	Human	1	name
402468553	CV2879763	deletion	NM_000152.5(GAA):c.1636+7del	Glycogen storage disease, type II [RCV003503880]	likely benign	17	80111032	80111032	Human	1	name
402470132	CV2888575	single nucleotide variant	NM_000152.5(GAA):c.2190-7C>G	Glycogen storage disease, type II [RCV003504204]	likely benign	17	80116961	80116961	Human	1	name
402470634	CV2890174	single nucleotide variant	NM_000152.5(GAA):c.1889-4C>T	Glycogen storage disease, type II [RCV003504422]	likely benign	17	80112872	80112872	Human	1	name
402469507	CV2891314	single nucleotide variant	NM_000152.5(GAA):c.693-14C>T	Glycogen storage disease, type II [RCV003504115]	likely benign	17	80107543	80107543	Human	1	name
405129985	CV2905254	single nucleotide variant	NM_000152.5(GAA):c.1754+2T>A	Glycogen storage disease, type II [RCV003502030]	pathogenic	17	80112102	80112102	Human	1	name
405130007	CV2905256	single nucleotide variant	NM_000152.5(GAA):c.2481+1G>A	Glycogen storage disease, type II [RCV003502032]	likely pathogenic	17	80117750	80117750	Human	1	name
402466273	CV2911494	single nucleotide variant	NM_000152.5(GAA):c.2332-7C>A	Glycogen storage disease, type II [RCV003503253]	likely benign	17	80117593	80117593	Human	1	name
402469254	CV2924455	single nucleotide variant	NM_000152.5(GAA):c.955+11C>G	Glycogen storage disease, type II [RCV003504045]	likely benign	17	80107907	80107907	Human	1	name
402466712	CV2925844	deletion	NM_000152.5(GAA):c.1195-7del	Glycogen storage disease, type II [RCV003503348]	likely benign	17	80108689	80108689	Human	1	name
402466859	CV2926368	single nucleotide variant	NM_000152.5(GAA):c.1075+7C>T	Glycogen storage disease, type II [RCV003503391]	likely benign	17	80108416	80108416	Human	1	name
402467078	CV2932720	single nucleotide variant	NM_000152.5(GAA):c.1438-9G>C	Glycogen storage disease, type II [RCV003503450]	likely benign	17	80110718	80110718	Human	1	name
405036123	CV2939927	single nucleotide variant	NM_000152.5(GAA):c.1194+9G>A	Glycogen storage disease, type II [RCV003609328]	likely benign	17	80108616	80108616	Human	1	name
405035983	CV2946192	single nucleotide variant	NM_000152.5(GAA):c.692+11G>C	Glycogen storage disease, type II [RCV003609315]	likely benign	17	80105905	80105905	Human	1	name
405037188	CV2948369	single nucleotide variant	NM_000152.5(GAA):c.2331+7C>G	Glycogen storage disease, type II [RCV003609422]	likely benign	17	80117116	80117116	Human	1	name
405037436	CV2948759	single nucleotide variant	NM_000152.5(GAA):c.859-20C>T	Glycogen storage disease, type II [RCV003609445]	likely benign	17	80107780	80107780	Human	1	name
405038374	CV2949877	single nucleotide variant	NM_000152.5(GAA):c.1076-8G>A	Glycogen storage disease, type II [RCV003609488]	likely benign	17	80108481	80108481	Human	1	name
405037887	CV2950322	single nucleotide variant	NM_000152.5(GAA):c.2800-9C>T	Glycogen storage disease, type II [RCV003609508]	likely benign	17	80119263	80119263	Human	1	name
405038504	CV2953101	single nucleotide variant	NM_000152.5(GAA):c.858+12G>C	Glycogen storage disease, type II [RCV003609477]	likely benign	17	80107734	80107734	Human	1	name
405039224	CV2959183	single nucleotide variant	NM_000152.5(GAA):c.2646+8C>T	Glycogen storage disease, type II [RCV003609599]	likely benign	17	80118365	80118365	Human	1	name
405045478	CV2965358	single nucleotide variant	NM_000152.5(GAA):c.1889-7C>T	Glycogen storage disease, type II [RCV003610126]	likely benign	17	80112869	80112869	Human	1	name
405049131	CV2979306	single nucleotide variant	NM_000152.5(GAA):c.2646+2T>G	Glycogen storage disease, type II [RCV003610379]	pathogenic	17	80118359	80118359	Human	1	name
405048591	CV2985915	single nucleotide variant	NM_000152.5(GAA):c.2647-7G>T	Glycogen storage disease, type II [RCV003610338]	likely benign	17	80118646	80118646	Human	1	name
405029987	CV2996659	single nucleotide variant	NM_000152.5(GAA):c.2646+7C>T	Glycogen storage disease, type II [RCV003608754]	likely benign	17	80118364	80118364	Human	1	name
405031921	CV3006340	single nucleotide variant	NM_000152.5(GAA):c.2190-9C>A	Glycogen storage disease, type II [RCV003608937]	likely benign	17	80116959	80116959	Human	1	name
405051213	CV3020503	single nucleotide variant	NM_000152.5(GAA):c.2481+8G>T	Glycogen storage disease, type II [RCV003610535]	likely benign	17	80117757	80117757	Human	1	name
405033814	CV3029054	single nucleotide variant	NM_000152.5(GAA):c.858+20G>T	Glycogen storage disease, type II [RCV003609096]	likely benign	17	80107742	80107742	Human	1	name
405054792	CV3039231	single nucleotide variant	NM_000152.5(GAA):c.2647-4C>T	Glycogen storage disease, type II [RCV003610646]	likely benign	17	80118649	80118649	Human	1	name
405053762	CV3047304	single nucleotide variant	NM_000152.5(GAA):c.546+16G>T	Glycogen storage disease, type II [RCV003610769]	likely benign	17	80105148	80105148	Human	1	name
405054256	CV3055022	single nucleotide variant	NM_000152.5(GAA):c.2647-7G>C	Glycogen storage disease, type II [RCV003610812]	likely benign	17	80118646	80118646	Human	1	name
405040644	CV3063095	single nucleotide variant	NM_000152.5(GAA):c.547-16C>G	Glycogen storage disease, type II [RCV003609742]	likely benign	17	80105733	80105733	Human	1	name
405056259	CV3067911	single nucleotide variant	NM_000152.5(GAA):c.955+20G>C	Glycogen storage disease, type II [RCV003610959]	likely benign	17	80107916	80107916	Human	1	name
405043467	CV3071856	single nucleotide variant	NM_000152.5(GAA):c.1755-8C>G	Glycogen storage disease, type II [RCV003609938]	likely benign	17	80112570	80112570	Human	1	name
405043632	CV3073304	single nucleotide variant	NM_000152.5(GAA):c.859-16C>A	Glycogen storage disease, type II [RCV003609805]	likely benign	17	80107784	80107784	Human	1	name
404977065	CV3127092	single nucleotide variant	NM_000152.5(GAA):c.1327-4C>T	Glycogen storage disease, type II [RCV003825315]	likely benign	17	80109941	80109941	Human	1	name
405201041	CV3128978	single nucleotide variant	NM_000152.5(GAA):c.955+19A>G	Glycogen storage disease, type II [RCV003822021]	likely benign	17	80107915	80107915	Human	1	name
405208627	CV3145728	single nucleotide variant	NM_000152.5(GAA):c.693-15G>A	Glycogen storage disease, type II [RCV003845458]	likely benign	17	80107542	80107542	Human	1	name
405185805	CV3149006	single nucleotide variant	NM_000152.5(GAA):c.692+17G>A	Glycogen storage disease, type II [RCV003842928]	likely benign	17	80105911	80105911	Human	1	name
405184063	CV3155978	single nucleotide variant	NM_000152.5(GAA):c.1552-7C>G	Glycogen storage disease, type II [RCV003859052]	likely benign	17	80110934	80110934	Human	1	name
402468248	CV3174290	single nucleotide variant	NM_000152.5(GAA):c.693-11C>G	Glycogen storage disease, type II [RCV003873573]	likely benign	17	80107546	80107546	Human	1	name
402487912	CV3181963	single nucleotide variant	NM_000152.5(GAA):c.693-20G>A	Glycogen storage disease, type II [RCV003876632]	likely benign	17	80107537	80107537	Human	1	name
404982897	CV3184260	single nucleotide variant	NM_000152.5(GAA):c.2040+9G>A	Glycogen storage disease, type II [RCV003880752]	likely benign	17	80113036	80113036	Human	1	name
405290591	CV3219897	single nucleotide variant	NM_000152.5(GAA):c.1888+8C>G	GAA-related disorder [RCV003962271]	likely benign	17	80112719	80112719	Human		name , trait , alternate_id
405265580	CV3220718	single nucleotide variant	NM_000152.5(GAA):c.-32-17G>A	GAA-related disorder [RCV003968918]\|not provided [RCV004704943]	likely benign	17	80104538	80104538	Human	1	name , alternate_id
405654240	CV3228173	single nucleotide variant	NM_000152.5(GAA):c.1075+6G>T	not specified [RCV003994908]	uncertain significance	17	80108415	80108415	Human		name
11658030	CV330451	single nucleotide variant	NM_000152.5(GAA):c.955+14C>A	Glycogen storage disease, type II [RCV000346137]\|not specified [RCV000604164]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80107910	80107910	Human	1	name
11646104	CV340700	single nucleotide variant	NM_000152.5(GAA):c.2800-9C>G	Glycogen storage disease, type II [RCV000269141]	conflicting interpretations of pathogenicity\|uncertain significance	17	80119263	80119263	Human	1	name
11655185	CV347666	single nucleotide variant	NM_000152.5(GAA):c.858+10C>T	Glycogen storage disease, type II [RCV000324021]\|not provided [RCV000592339]	conflicting interpretations of pathogenicity\|uncertain significance	17	80107732	80107732	Human	1	name
12739598	CV358493	single nucleotide variant	NM_000152.5(GAA):c.1076-2A>G	Glycogen storage disease, type II [RCV000409982]\|not provided [RCV003137981]	pathogenic\|likely pathogenic	17	80108487	80108487	Human	1	name
12739604	CV358499	single nucleotide variant	NM_000152.5(GAA):c.1194+2T>C	Glycogen storage disease, type II [RCV000409997]	likely pathogenic	17	80108609	80108609	Human	1	name
12739876	CV358510	single nucleotide variant	NM_000152.5(GAA):c.2040+1G>T	Glycogen storage disease, type II [RCV000410649]\|not provided [RCV003137985]	pathogenic\|likely pathogenic	17	80113028	80113028	Human	1	name
12740281	CV358520	single nucleotide variant	NM_000152.5(GAA):c.2331+2T>A	Glycogen storage disease, type II [RCV000411608]\|not provided [RCV001702635]	pathogenic	17	80117111	80117111	Human	1	name
597645192	CV3712399	single nucleotide variant	NM_000152.5(GAA):c.1075+1G>A	Glycogen storage disease, type II [RCV005026141]	likely pathogenic	17	80108410	80108410	Human	1	name
12847081	CV376764	single nucleotide variant	NM_000152.5(GAA):c.1755-7A>G	Glycogen storage disease, type II [RCV000878207]\|not specified [RCV000442844]	likely benign	17	80112571	80112571	Human	1	name
597940566	CV3772811	single nucleotide variant	NM_000152.5(GAA):c.858+11G>T	Glycogen storage disease, type II [RCV005118441]	likely benign	17	80107733	80107733	Human	1	name
597887458	CV3787594	single nucleotide variant	NM_000152.5(GAA):c.1327-6T>C	Glycogen storage disease, type II [RCV005125160]	likely benign	17	80109939	80109939	Human	1	name
597974285	CV3801872	single nucleotide variant	NM_000152.5(GAA):c.1438-6G>A	Glycogen storage disease, type II [RCV005143861]	likely benign	17	80110721	80110721	Human	1	name
597952422	CV3815774	single nucleotide variant	NM_000152.5(GAA):c.1437+8G>T	Glycogen storage disease, type II [RCV005161527]	likely benign	17	80110063	80110063	Human	1	name
597968948	CV3821318	single nucleotide variant	NM_000152.5(GAA):c.1327-5C>G	Glycogen storage disease, type II [RCV005165960]	likely benign	17	80109940	80109940	Human	1	name
597916825	CV3841984	single nucleotide variant	NM_000152.5(GAA):c.547-16C>A	Glycogen storage disease, type II [RCV005183658]	likely benign	17	80105733	80105733	Human	1	name
597965008	CV3848202	single nucleotide variant	NM_000152.5(GAA):c.2189+8A>C	Glycogen storage disease, type II [RCV005194082]	likely benign	17	80113374	80113374	Human	1	name
597932192	CV3862013	single nucleotide variant	NM_000152.5(GAA):c.1327-9T>G	Glycogen storage disease, type II [RCV005206877]	likely benign	17	80109936	80109936	Human	1	name
597930318	CV3862330	single nucleotide variant	NM_000152.5(GAA):c.956-12C>T	Glycogen storage disease, type II [RCV005206574]	likely benign	17	80108278	80108278	Human	1	name
12893616	CV410294	single nucleotide variant	NM_000152.5(GAA):c.1552-3C>G	Cardiovascular phenotype [RCV003380590]\|Glycogen storage disease, type II [RCV000593914]\|not provided [RCV000479616]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	80110938	80110938	Human	2	name
13499669	CV467643	single nucleotide variant	NM_000152.5(GAA):c.1438-9G>A	GAA-related disorder [RCV003942733]\|Glycogen storage disease, type II [RCV001087242]\|not provided [RCV000727404]\|not specified [RCV000594051]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80110718	80110718	Human	1	name , alternate_id
13498133	CV467659	single nucleotide variant	NM_000152.5(GAA):c.2332-1G>C	Glycogen storage disease, type II [RCV000527551]\|not provided [RCV004791520]	likely pathogenic	17	80117599	80117599	Human	1	name
13468786	CV468552	single nucleotide variant	NM_000152.5(GAA):c.1437+8G>A	GAA-related disorder [RCV003900114]\|Glycogen storage disease, type II [RCV000559894]\|not specified [RCV000780266]	likely benign\|uncertain significance	17	80110063	80110063	Human	1	name , alternate_id
13498535	CV469014	single nucleotide variant	NM_000152.5(GAA):c.2481+6T>C	Glycogen storage disease, type II [RCV000529299]	uncertain significance	17	80117755	80117755	Human	1	name
13464451	CV469264	single nucleotide variant	NM_000152.5(GAA):c.1326+8C>A	Glycogen storage disease, type II [RCV000542190]	likely benign	17	80108836	80108836	Human	1	name
13498356	CV469291	single nucleotide variant	NM_000152.5(GAA):c.2041-4G>T	Glycogen storage disease, type II [RCV000528470]\|not provided [RCV000732711]	conflicting interpretations of pathogenicity\|uncertain significance	17	80113214	80113214	Human	1	name
13467516	CV469297	single nucleotide variant	NM_000152.5(GAA):c.2190-4G>A	Cardiovascular phenotype [RCV004023751]\|GAA-related disorder [RCV003960261]\|Glycogen storage disease, type II [RCV001083210]\|not provided [RCV000588046]\|not specified [RCV005407690]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80116964	80116964	Human	2	name , alternate_id
13521668	CV487916	single nucleotide variant	NM_000152.5(GAA):c.859-21G>A	not provided [RCV000589719]	benign\|likely benign	17	80107779	80107779	Human		name
13522668	CV488724	single nucleotide variant	NM_000152.5(GAA):c.2040+7T>G	not provided [RCV000592023]	uncertain significance	17	80113034	80113034	Human		name
13534207	CV506198	single nucleotide variant	NM_000152.5(GAA):c.-33+17C>T	not specified [RCV000601855]	likely benign	17	80101907	80101907	Human		name
13535311	CV506202	single nucleotide variant	NM_000152.5(GAA):c.692+17G>C	Glycogen storage disease, type II [RCV001289680]\|not provided [RCV000675219]\|not specified [RCV000602251]	benign\|likely benign	17	80105911	80105911	Human	1	name
13535884	CV506443	single nucleotide variant	NM_000152.5(GAA):c.858+14C>T	Glycogen storage disease, type II [RCV002065442]\|not specified [RCV000608190]	likely benign	17	80107736	80107736	Human	1	name
13531905	CV506448	single nucleotide variant	NM_000152.5(GAA):c.858+15G>A	Glycogen storage disease, type II [RCV002064138]\|not specified [RCV000601202]	likely benign	17	80107737	80107737	Human	1	name
13541890	CV506463	single nucleotide variant	NM_000152.5(GAA):c.1636+8C>T	Glycogen storage disease, type II [RCV000960396]\|not specified [RCV000616783]	likely benign	17	80111033	80111033	Human	1	name
13613315	CV531972	single nucleotide variant	NM_000152.5(GAA):c.1438-2A>G	Glycogen storage disease, type II [RCV000631061]	pathogenic\|likely pathogenic	17	80110725	80110725	Human	1	name
13613344	CV532345	single nucleotide variant	NM_000152.5(GAA):c.2647-6G>T	Glycogen storage disease, type II [RCV000631102]	likely benign	17	80118647	80118647	Human	1	name
13789800	CV548402	single nucleotide variant	NM_000152.5(GAA):c.1076-1G>A	Glycogen storage disease, type II [RCV000666182]	pathogenic\|likely pathogenic	17	80108488	80108488	Human	1	name
13786907	CV548414	single nucleotide variant	NM_000152.5(GAA):c.1195-1G>A	Glycogen storage disease, type II [RCV000664532]	likely pathogenic	17	80108696	80108696	Human	1	name
13785202	CV548419	single nucleotide variant	NM_000152.5(GAA):c.1437+1G>A	Glycogen storage disease, type II [RCV000671773]\|not provided [RCV001592852]	pathogenic\|likely pathogenic	17	80110056	80110056	Human	1	name
13785320	CV548423	single nucleotide variant	NM_000152.5(GAA):c.1551+1G>T	Glycogen storage disease, type II [RCV000671915]	pathogenic\|likely pathogenic	17	80110841	80110841	Human	1	name
13789331	CV548433	single nucleotide variant	NM_000152.5(GAA):c.2189+1G>T	Glycogen storage disease, type II [RCV000674456]\|not provided [RCV003489797]	likely pathogenic	17	80113367	80113367	Human	1	name
13787305	CV548444	deletion	NM_000152.5(GAA):c.2040+1del	Glycogen storage disease, type II [RCV000664763]	likely pathogenic	17	80113027	80113027	Human	1	name
13789611	CV548461	single nucleotide variant	NM_000152.5(GAA):c.2647-7G>A	Glycogen storage disease, type II [RCV000666077]\|not provided [RCV001816669]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	80118646	80118646	Human	1	name
13786708	CV548464	single nucleotide variant	NM_000152.5(GAA):c.2799+2C>A	Glycogen storage disease, type II [RCV000673050]	likely pathogenic\|uncertain significance	17	80118807	80118807	Human	1	name
13784268	CV548786	single nucleotide variant	NM_000152.5(GAA):c.1551+1G>C	Glycogen storage disease, type II [RCV000670717]\|not provided [RCV001784264]	pathogenic\|likely pathogenic	17	80110841	80110841	Human	1	name
13787060	CV548788	single nucleotide variant	NM_000152.5(GAA):c.1552-2A>G	Glycogen storage disease, type II [RCV000664623]	pathogenic\|likely pathogenic	17	80110939	80110939	Human	1	name
13784169	CV549162	single nucleotide variant	NM_000152.5(GAA):c.1326+2T>C	Glycogen storage disease, type II [RCV000670606]	likely pathogenic	17	80108830	80108830	Human	1	name
13789566	CV549198	single nucleotide variant	NM_000152.5(GAA):c.2482-5T>C	Glycogen storage disease, type II [RCV000674569]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80118188	80118188	Human	1	name
13821438	CV569884	single nucleotide variant	NM_000152.5(GAA):c.2799+2C>T	Glycogen storage disease, type II [RCV000695885]\|not provided [RCV003144532]	uncertain significance	17	80118807	80118807	Human	1	name
13815819	CV572387	single nucleotide variant	NM_000152.5(GAA):c.1194+6T>C	Glycogen storage disease, type II [RCV000691888]	uncertain significance	17	80108613	80108613	Human	1	name
13815401	CV574670	single nucleotide variant	NM_000152.5(GAA):c.1195-8G>A	Glycogen storage disease, type II [RCV000691563]\|not provided [RCV003489814]	uncertain significance	17	80108689	80108689	Human	1	name
13837715	CV589005	single nucleotide variant	NM_000152.5(GAA):c.1326+1G>A	Glycogen storage disease, type II [RCV001249034]\|not provided [RCV000734207]	pathogenic\|likely pathogenic\|uncertain significance	17	80108829	80108829	Human	1	name
14394887	CV610587	single nucleotide variant	NM_000152.5(GAA):c.-32-18C>G	Glycogen storage disease type II, infantile [RCV000758163]	uncertain significance	17	80104537	80104537	Human	1	name
14704518	CV625781	single nucleotide variant	NM_000152.5(GAA):c.858+24G>C	Glycogen storage disease, type II [RCV000791247]	benign	17	80107746	80107746	Human	1	name
14701690	CV652862	single nucleotide variant	NM_000152.5(GAA):c.2481+5C>G	Glycogen storage disease, type II [RCV000806449]	uncertain significance	17	80117754	80117754	Human	1	name
14733637	CV653056	single nucleotide variant	NM_000152.5(GAA):c.1438-1G>T	Glycogen storage disease, type II [RCV000818785]\|not provided [RCV001785729]	pathogenic\|likely pathogenic	17	80110726	80110726	Human	1	name
14717184	CV653060	single nucleotide variant	NM_000152.5(GAA):c.1754+6G>C	Glycogen storage disease, type II [RCV000795360]	uncertain significance	17	80112106	80112106	Human	1	name
14726572	CV653542	single nucleotide variant	NM_000152.5(GAA):c.2040+4G>C	Glycogen storage disease, type II [RCV000815688]	uncertain significance	17	80113031	80113031	Human	1	name
15136684	CV695781	single nucleotide variant	NM_000152.5(GAA):c.858+10C>A	Glycogen storage disease, type II [RCV000876864]	likely benign	17	80107732	80107732	Human	1	name
15122508	CV695782	single nucleotide variant	NM_000152.5(GAA):c.1636+9G>T	Glycogen storage disease, type II [RCV000874427]	likely benign	17	80111034	80111034	Human	1	name
15105531	CV731183	single nucleotide variant	NM_000152.5(GAA):c.1888+8C>T	Glycogen storage disease, type II [RCV001432765]	likely benign	17	80112719	80112719	Human	1	name
15150169	CV745101	single nucleotide variant	NM_000152.5(GAA):c.1636+7T>C	Glycogen storage disease, type II [RCV001395356]	likely benign	17	80111032	80111032	Human	1	name
15127221	CV787966	single nucleotide variant	NM_000152.5(GAA):c.2332-5T>G	Glycogen storage disease, type II [RCV001495404]	likely benign	17	80117595	80117595	Human	1	name
15143113	CV788141	single nucleotide variant	NM_000152.5(GAA):c.2040+8G>C	Glycogen storage disease, type II [RCV000983271]	likely benign	17	80113035	80113035	Human	1	name
15122042	CV788196	single nucleotide variant	NM_000152.5(GAA):c.1327-8C>T	Glycogen storage disease, type II [RCV001469816]	likely benign	17	80109937	80109937	Human	1	name
26887144	CV851761	single nucleotide variant	NM_000152.5(GAA):c.1195-2A>C	Glycogen storage disease, type II [RCV001044684]	likely pathogenic	17	80108695	80108695	Human	1	name
26911802	CV852262	single nucleotide variant	NM_000152.5(GAA):c.1755-1G>A	Glycogen storage disease, type II [RCV001053073]	pathogenic\|likely pathogenic	17	80112577	80112577	Human	1	name
26912149	CV852925	single nucleotide variant	NM_000152.5(GAA):c.1437+2T>C	Glycogen storage disease, type II [RCV001053248]	pathogenic	17	80110057	80110057	Human	1	name
38459790	CV920384	single nucleotide variant	NM_000152.5(GAA):c.1194+5G>A	Glycogen storage disease, type II [RCV001196112]	likely pathogenic	17	80108612	80108612	Human	1	name
38499490	CV960901	single nucleotide variant	NM_000152.5(GAA):c.1437+6G>A	Glycogen storage disease, type II [RCV001244698]	uncertain significance	17	80110061	80110061	Human	1	name
38470434	CV960902	single nucleotide variant	NM_000152.5(GAA):c.1755-3C>T	Glycogen storage disease, type II [RCV001248405]	uncertain significance	17	80112575	80112575	Human	1	name
38462933	CV961111	single nucleotide variant	NM_000152.5(GAA):c.547-67C>G	Glycogen storage disease, type II [RCV001249077]\|not provided [RCV001597259]	benign	17	80105682	80105682	Human	1	name
38462660	CV961118	single nucleotide variant	NM_000152.5(GAA):c.1195-2A>G	Glycogen storage disease, type II [RCV001248954]	likely pathogenic	17	80108695	80108695	Human	1	name
38462596	CV961119	single nucleotide variant	NM_000152.5(GAA):c.1327-2A>G	Glycogen storage disease, type II [RCV001248928]\|not provided [RCV001780192]	pathogenic\|likely pathogenic	17	80109943	80109943	Human	1	name
38462852	CV961130	single nucleotide variant	NM_000152.5(GAA):c.1888+1G>A	Glycogen storage disease, type II [RCV001249046]	pathogenic\|likely pathogenic	17	80112712	80112712	Human	1	name
38462828	CV961133	single nucleotide variant	NM_000152.5(GAA):c.2041-1G>A	Glycogen storage disease, type II [RCV001249033]	pathogenic\|likely pathogenic	17	80113217	80113217	Human	1	name
40815849	CV970481	single nucleotide variant	NM_000152.5(GAA):c.1551+5G>A	Glycogen storage disease, type II [RCV001261940]	uncertain significance	17	80110845	80110845	Human	1	name
8639416	CV98400	single nucleotide variant	NM_000152.5(GAA):c.955+12G>A	Glycogen storage disease, type II [RCV000284185]\|not provided [RCV000675224]\|not specified [RCV000078188]	benign\|conflicting interpretations of pathogenicity	17	80107908	80107908	Human	1	name
126726968	CV998024	single nucleotide variant	NM_000152.5(GAA):c.1889-7C>G	Glycogen storage disease, type II [RCV001299107]	uncertain significance	17	80112869	80112869	Human	1	name
126908565	CV1050737	single nucleotide variant	NM_000152.5(GAA):c.1438-10C>G	Glycogen storage disease, type II [RCV001368001]	uncertain significance	17	80110717	80110717	Human	1	name
127231718	CV1083696	duplication	NM_000152.5(GAA):c.1636+15dup	Glycogen storage disease, type II [RCV001410429]	likely benign	17	80111034	80111035	Human	1	name
127231717	CV1083706	single nucleotide variant	NM_000152.5(GAA):c.2189+10C>T	Glycogen storage disease, type II [RCV001409979]	likely benign	17	80113376	80113376	Human	1	name
127279039	CV1105505	single nucleotide variant	NM_000152.5(GAA):c.1636+10C>A	Glycogen storage disease, type II [RCV001445499]	likely benign	17	80111035	80111035	Human	1	name
127295123	CV1126879	single nucleotide variant	NM_000152.5(GAA):c.1551+10G>T	Glycogen storage disease, type II [RCV001477024]	likely benign	17	80110850	80110850	Human	1	name
127310234	CV1126906	single nucleotide variant	NM_000152.5(GAA):c.2800-10T>C	Glycogen storage disease, type II [RCV001456567]	likely benign	17	80119262	80119262	Human	1	name
127293650	CV1162118	single nucleotide variant	NM_000152.5(GAA):c.2040+66C>T	Glycogen storage disease, type II [RCV001527138]\|not provided [RCV004710300]	benign	17	80113093	80113093	Human	1	name
127293579	CV1162119	single nucleotide variant	NM_000152.5(GAA):c.2189+95C>T	Glycogen storage disease, type II [RCV001527104]\|not provided [RCV001615221]	benign	17	80113461	80113461	Human	1	name
127293582	CV1162120	single nucleotide variant	NM_000152.5(GAA):c.2331+48C>A	Glycogen storage disease, type II [RCV001527106]	benign	17	80117157	80117157	Human	1	name
127293586	CV1162121	single nucleotide variant	NM_000152.5(GAA):c.2647-71G>C	Glycogen storage disease, type II [RCV001527107]\|not provided [RCV001712946]	benign\|likely benign	17	80118582	80118582	Human	1	name
150331625	CV1173077	single nucleotide variant	NM_000152.5(GAA):c.2331+84C>G	not provided [RCV001538709]	likely benign\|conflicting interpretations of pathogenicity	17	80117193	80117193	Human		name
150419135	CV1181587	single nucleotide variant	NM_000152.5(GAA):c.1438-32G>A	Glycogen storage disease, type II [RCV001832746]\|not provided [RCV001550904]	likely benign	17	80110695	80110695	Human	1	name
150416039	CV1192010	single nucleotide variant	NM_000152.5(GAA):c.1437+22C>T	not provided [RCV001568258]	likely benign	17	80110077	80110077	Human		name
150433042	CV1203522	single nucleotide variant	NM_000152.5(GAA):c.2332-40C>G	not provided [RCV001581677]	likely benign	17	80117560	80117560	Human		name
150462749	CV1206633	single nucleotide variant	NM_000152.5(GAA):c.955+167C>T	not provided [RCV001587034]	likely benign	17	80108063	80108063	Human		name
150489542	CV1208459	single nucleotide variant	NM_000152.5(GAA):c.2190-53C>G	not provided [RCV001592320]	likely benign	17	80116915	80116915	Human		name
150496875	CV1208660	single nucleotide variant	NM_000152.5(GAA):c.546+176C>T	not provided [RCV001593876]	likely benign	17	80105308	80105308	Human		name
150507303	CV1226558	single nucleotide variant	NM_000152.5(GAA):c.-33+219G>C	not provided [RCV001635926]	benign	17	80102109	80102109	Human		name
150462883	CV1234977	single nucleotide variant	NM_000152.5(GAA):c.956-107G>A	not provided [RCV001649559]	benign	17	80108183	80108183	Human		name
150499269	CV1235703	single nucleotide variant	NM_000152.5(GAA):c.1437+70T>A	not provided [RCV001656386]	benign	17	80110125	80110125	Human		name
150440408	CV1246569	single nucleotide variant	NM_000152.5(GAA):c.955+155C>A	not provided [RCV001666222]	benign	17	80108051	80108051	Human		name
150471510	CV1281000	single nucleotide variant	NM_000152.5(GAA):c.2041-64G>A	not provided [RCV001713201]	benign	17	80113154	80113154	Human		name
150489063	CV1284160	single nucleotide variant	NM_000152.5(GAA):c.692+144A>G	not provided [RCV001716210]	benign	17	80106038	80106038	Human		name
151349796	CV1321764	single nucleotide variant	NM_000152.5(GAA):c.1754+11C>T	Glycogen storage disease, type II [RCV001802748]	likely benign	17	80112111	80112111	Human	1	name
151882374	CV1364169	single nucleotide variant	NM_000152.5(GAA):c.1636+17C>T	Glycogen storage disease, type II [RCV001999817]	likely benign	17	80111042	80111042	Human	1	name
151880860	CV1437183	single nucleotide variant	NM_000152.5(GAA):c.2647-15C>G	Glycogen storage disease, type II [RCV001999548]	likely benign	17	80118638	80118638	Human	1	name
151867420	CV1437814	single nucleotide variant	NM_000152.5(GAA):c.1326+20G>A	Glycogen storage disease, type II [RCV001906053]	uncertain significance	17	80108848	80108848	Human	1	name
151886494	CV1455017	single nucleotide variant	NM_000152.5(GAA):c.2332-16C>T	Glycogen storage disease, type II [RCV002037981]	conflicting interpretations of pathogenicity\|uncertain significance	17	80117584	80117584	Human	1	name
151806078	CV1462501	single nucleotide variant	NM_000152.5(GAA):c.2481+15C>T	Glycogen storage disease, type II [RCV001991385]	conflicting interpretations of pathogenicity\|uncertain significance	17	80117764	80117764	Human	1	name
152037301	CV1524875	single nucleotide variant	NM_000152.5(GAA):c.2799+18G>A	Glycogen storage disease, type II [RCV002165163]	likely benign	17	80118823	80118823	Human	1	name
152025629	CV1527801	single nucleotide variant	NM_000152.5(GAA):c.1195-15G>C	Glycogen storage disease, type II [RCV002084527]	likely benign	17	80108682	80108682	Human	1	name
152069758	CV1535482	single nucleotide variant	NM_000152.5(GAA):c.1437+15C>T	Glycogen storage disease, type II [RCV002091424]	likely benign	17	80110070	80110070	Human	1	name
152117575	CV1538904	single nucleotide variant	NM_000152.5(GAA):c.2331+16C>T	Glycogen storage disease, type II [RCV002175139]	likely benign	17	80117125	80117125	Human	1	name
152164604	CV1543551	single nucleotide variant	NM_000152.5(GAA):c.2041-13G>A	Glycogen storage disease, type II [RCV002123834]	likely benign	17	80113205	80113205	Human	1	name
152132543	CV1545171	single nucleotide variant	NM_000152.5(GAA):c.2481+12A>G	Glycogen storage disease, type II [RCV002119276]	likely benign	17	80117761	80117761	Human	1	name
152031833	CV1546149	deletion	NM_000152.5(GAA):c.1194+11del	Glycogen storage disease, type II [RCV002124640]	benign	17	80108615	80108615	Human	1	name
152071596	CV1549171	single nucleotide variant	NM_000152.5(GAA):c.2331+14C>T	Glycogen storage disease, type II [RCV002091661]	likely benign	17	80117123	80117123	Human	1	name
152111344	CV1551409	single nucleotide variant	NM_000152.5(GAA):c.1438-11T>A	Glycogen storage disease, type II [RCV002196816]	likely benign	17	80110716	80110716	Human	1	name
152122088	CV1554756	single nucleotide variant	NM_000152.5(GAA):c.1327-16G>T	Glycogen storage disease, type II [RCV002198191]	likely benign	17	80109929	80109929	Human	1	name
152073510	CV1556641	single nucleotide variant	NM_000152.5(GAA):c.1637-17G>A	Glycogen storage disease, type II [RCV002111782]	likely benign	17	80111966	80111966	Human	1	name
152089243	CV1563065	single nucleotide variant	NM_000152.5(GAA):c.2647-10C>T	Glycogen storage disease, type II [RCV002113842]	likely benign	17	80118643	80118643	Human	1	name
152109181	CV1563831	single nucleotide variant	NM_000152.5(GAA):c.1076-15G>A	Glycogen storage disease, type II [RCV002174110]	likely benign	17	80108474	80108474	Human	1	name
152054456	CV1564266	single nucleotide variant	NM_000152.5(GAA):c.1636+10C>T	Glycogen storage disease, type II [RCV002146063]	likely benign	17	80111035	80111035	Human	1	name
152152464	CV1565236	single nucleotide variant	NM_000152.5(GAA):c.1327-20A>G	Glycogen storage disease, type II [RCV002102440]	likely benign	17	80109925	80109925	Human	1	name
152029464	CV1568291	single nucleotide variant	NM_000152.5(GAA):c.2041-14C>T	Glycogen storage disease, type II [RCV002105592]	likely benign	17	80113204	80113204	Human	1	name
152103066	CV1571806	single nucleotide variant	NM_000152.5(GAA):c.2331+11G>C	Glycogen storage disease, type II [RCV002173353]	likely benign	17	80117120	80117120	Human	1	name
152086521	CV1573910	single nucleotide variant	NM_000152.5(GAA):c.1636+10C>G	Glycogen storage disease, type II [RCV002150003]	likely benign	17	80111035	80111035	Human	1	name
152037992	CV1576568	single nucleotide variant	NM_000152.5(GAA):c.1637-11G>A	Glycogen storage disease, type II [RCV002107310]	likely benign	17	80111972	80111972	Human	1	name
152055193	CV1582061	deletion	NM_000152.5(GAA):c.1076-12del	Glycogen storage disease, type II [RCV002089621]	likely benign	17	80108477	80108477	Human	1	name
152130495	CV1582297	single nucleotide variant	NM_000152.5(GAA):c.1889-14C>T	Glycogen storage disease, type II [RCV002099420]	likely benign	17	80112862	80112862	Human	1	name
152128527	CV1583764	single nucleotide variant	NM_000152.5(GAA):c.1552-12C>A	Glycogen storage disease, type II [RCV002199009]	likely benign	17	80110929	80110929	Human	1	name
152133942	CV1590308	single nucleotide variant	NM_000152.5(GAA):c.1076-14G>A	Glycogen storage disease, type II [RCV002218451]	likely benign	17	80108475	80108475	Human	1	name
152026534	CV1594664	single nucleotide variant	NM_000152.5(GAA):c.2190-20T>C	Glycogen storage disease, type II [RCV002104588]	likely benign	17	80116948	80116948	Human	1	name
152088151	CV1594806	single nucleotide variant	NM_000152.5(GAA):c.2646+11G>A	Glycogen storage disease, type II [RCV002113697]	likely benign	17	80118368	80118368	Human	1	name
152078112	CV1602050	single nucleotide variant	NM_000152.5(GAA):c.1326+20G>T	Glycogen storage disease, type II [RCV002148958]	likely benign	17	80108848	80108848	Human	1	name
152137026	CV1603664	single nucleotide variant	NM_000152.5(GAA):c.1076-16C>T	Glycogen storage disease, type II [RCV002218858]	likely benign	17	80108473	80108473	Human	1	name
152113431	CV1605841	single nucleotide variant	NM_000152.5(GAA):c.1326+15A>G	Glycogen storage disease, type II [RCV002116860]	likely benign	17	80108843	80108843	Human	1	name
152106260	CV1609025	single nucleotide variant	NM_000152.5(GAA):c.1637-10C>T	Glycogen storage disease, type II [RCV002096205]	likely benign	17	80111973	80111973	Human	1	name
152104652	CV1614538	duplication	NM_000152.5(GAA):c.1551+10dup	Glycogen storage disease, type II [RCV002079435]	likely benign	17	80110848	80110849	Human	1	name
152073463	CV1615438	single nucleotide variant	NM_000152.5(GAA):c.1754+16C>T	Glycogen storage disease, type II [RCV002091906]	likely benign	17	80112116	80112116	Human	1	name
152073578	CV1615462	single nucleotide variant	NM_000152.5(GAA):c.2481+14G>A	Glycogen storage disease, type II [RCV002091921]	likely benign	17	80117763	80117763	Human	1	name
152039640	CV1617243	single nucleotide variant	NM_000152.5(GAA):c.2799+10C>T	Glycogen storage disease, type II [RCV002087764]	likely benign	17	80118815	80118815	Human	1	name
152083679	CV1623940	single nucleotide variant	NM_000152.5(GAA):c.1888+18G>A	Glycogen storage disease, type II [RCV002149638]	likely benign	17	80112729	80112729	Human	1	name
152152242	CV1626850	single nucleotide variant	NM_000152.5(GAA):c.1636+14C>T	Glycogen storage disease, type II [RCV002202147]	likely benign	17	80111039	80111039	Human	1	name
152157381	CV1630535	single nucleotide variant	NM_000152.5(GAA):c.1755-11C>T	Glycogen storage disease, type II [RCV002122604]	likely benign	17	80112567	80112567	Human	1	name
152176467	CV1631388	single nucleotide variant	NM_000152.5(GAA):c.1194+10G>A	Glycogen storage disease, type II [RCV002164612]	likely benign	17	80108617	80108617	Human	1	name
152173394	CV1637899	single nucleotide variant	NM_000152.5(GAA):c.2647-11G>C	Glycogen storage disease, type II [RCV002162795]	likely benign	17	80118642	80118642	Human	1	name
152063790	CV1644838	single nucleotide variant	NM_000152.5(GAA):c.2482-19C>T	Glycogen storage disease, type II [RCV002147119]	likely benign	17	80118174	80118174	Human	1	name
152056664	CV1656437	single nucleotide variant	NM_000152.5(GAA):c.1438-13T>C	Glycogen storage disease, type II [RCV002109629]	likely benign	17	80110714	80110714	Human	1	name
152053587	CV1659370	single nucleotide variant	NM_000152.5(GAA):c.1075+14C>T	Glycogen storage disease, type II [RCV002189702]	likely benign	17	80108423	80108423	Human	1	name
156318748	CV1876163	single nucleotide variant	NM_000152.5(GAA):c.1636+15C>G	Glycogen storage disease, type II [RCV003062922]	likely benign	17	80111040	80111040	Human	1	name
156149890	CV1878894	single nucleotide variant	NM_000152.5(GAA):c.1888+18G>C	Glycogen storage disease, type II [RCV003056492]	likely benign	17	80112729	80112729	Human	1	name
156266357	CV1879231	single nucleotide variant	NM_000152.5(GAA):c.1551+15C>G	Glycogen storage disease, type II [RCV003060552]	likely benign	17	80110855	80110855	Human	1	name
156295776	CV1888573	single nucleotide variant	NM_000152.5(GAA):c.2800-16G>A	Glycogen storage disease, type II [RCV003061653]	likely benign	17	80119256	80119256	Human	1	name
156037193	CV1890732	single nucleotide variant	NM_000152.5(GAA):c.1195-16C>T	Glycogen storage disease, type II [RCV003078364]	likely benign	17	80108681	80108681	Human	1	name
156039657	CV1890937	single nucleotide variant	NM_000152.5(GAA):c.1637-19C>T	Glycogen storage disease, type II [RCV003078463]	likely benign	17	80111964	80111964	Human	1	name
156347679	CV1893157	single nucleotide variant	NM_000152.5(GAA):c.2190-16C>T	Glycogen storage disease, type II [RCV003090730]	likely benign	17	80116952	80116952	Human	1	name
156413726	CV1905407	single nucleotide variant	NM_000152.5(GAA):c.1755-20G>A	Glycogen storage disease, type II [RCV003073416]	likely benign	17	80112558	80112558	Human	1	name
156418423	CV1911088	single nucleotide variant	NM_000152.5(GAA):c.1326+16C>G	Glycogen storage disease, type II [RCV002611612]	likely benign	17	80108844	80108844	Human	1	name
156194321	CV1912200	single nucleotide variant	NM_000152.5(GAA):c.2481+20A>G	Glycogen storage disease, type II [RCV002595480]	likely benign	17	80117769	80117769	Human	1	name
156371494	CV1923595	single nucleotide variant	NM_000152.5(GAA):c.1076-12G>A	Glycogen storage disease, type II [RCV002633425]	likely benign	17	80108477	80108477	Human	1	name
156437204	CV1937034	single nucleotide variant	NM_000152.5(GAA):c.1194+11G>T	Glycogen storage disease, type II [RCV003106735]	likely benign	17	80108618	80108618	Human	1	name
156223486	CV1962203	single nucleotide variant	NM_000152.5(GAA):c.1437+20G>C	Glycogen storage disease, type II [RCV002596546]	likely benign	17	80110075	80110075	Human	1	name
156143884	CV1973743	duplication	NM_000152.5(GAA):c.1194+19dup	Glycogen storage disease, type II [RCV002593924]	likely benign	17	80108625	80108626	Human	1	name
156401965	CV1992286	single nucleotide variant	NM_000152.5(GAA):c.1636+18C>T	Glycogen storage disease, type II [RCV002605693]	likely benign	17	80111043	80111043	Human	1	name
156231298	CV1999363	duplication	NM_000152.5(GAA):c.2041-14dup	Glycogen storage disease, type II [RCV002667589]	benign	17	80113199	80113200	Human	1	name
156304318	CV1999735	single nucleotide variant	NM_000152.5(GAA):c.2482-16G>A	Glycogen storage disease, type II [RCV002671306]	likely benign	17	80118177	80118177	Human	1	name
155957626	CV2010548	single nucleotide variant	NM_000152.5(GAA):c.1637-11G>C	Glycogen storage disease, type II [RCV002686352]	likely benign	17	80111972	80111972	Human	1	name
155950635	CV2026191	single nucleotide variant	NM_000152.5(GAA):c.1076-11T>C	Glycogen storage disease, type II [RCV002730663]	uncertain significance	17	80108478	80108478	Human	1	name
156270761	CV2026919	single nucleotide variant	NM_000152.5(GAA):c.1194+13G>A	Glycogen storage disease, type II [RCV002746630]	likely benign	17	80108620	80108620	Human	1	name
156253157	CV2029698	single nucleotide variant	NM_000152.5(GAA):c.1075+14C>G	Glycogen storage disease, type II [RCV002746060]	likely benign	17	80108423	80108423	Human	1	name
156236695	CV2036632	single nucleotide variant	NM_000152.5(GAA):c.1755-12C>A	Glycogen storage disease, type II [RCV002805523]	likely benign	17	80112566	80112566	Human	1	name
156175992	CV2053579	single nucleotide variant	NM_000152.5(GAA):c.1194+20G>C	Glycogen storage disease, type II [RCV002802101]	likely benign	17	80108627	80108627	Human	1	name
156052109	CV2064602	single nucleotide variant	NM_000152.5(GAA):c.1075+10G>A	Glycogen storage disease, type II [RCV002846471]	likely benign	17	80108419	80108419	Human	1	name
156060442	CV2069208	single nucleotide variant	NM_000152.5(GAA):c.1075+18G>A	Glycogen storage disease, type II [RCV002846753]	likely benign	17	80108427	80108427	Human	1	name
156060686	CV2069219	single nucleotide variant	NM_000152.5(GAA):c.1636+12C>T	Glycogen storage disease, type II [RCV002846762]	likely benign	17	80111037	80111037	Human	1	name
156310882	CV2076285	single nucleotide variant	NM_000152.5(GAA):c.1755-17G>A	Glycogen storage disease, type II [RCV002857656]	likely benign	17	80112561	80112561	Human	1	name
156221350	CV2084037	deletion	NM_000152.5(GAA):c.2041-14del	Glycogen storage disease, type II [RCV002875881]	benign	17	80113200	80113200	Human	1	name
156319217	CV2090536	single nucleotide variant	NM_000152.5(GAA):c.1326+12C>G	Glycogen storage disease, type II [RCV002899180]	likely benign	17	80108840	80108840	Human	1	name
156061233	CV2098525	deletion	NM_000152.5(GAA):c.1551+15del	Glycogen storage disease, type II [RCV002886514]	benign	17	80110851	80110851	Human	1	name
156261717	CV2099207	single nucleotide variant	NM_000152.5(GAA):c.2799+15A>G	Glycogen storage disease, type II [RCV002895604]	likely benign\|uncertain significance	17	80118820	80118820	Human	1	name
156149979	CV2131681	single nucleotide variant	NM_000152.5(GAA):c.1755-19G>A	Glycogen storage disease, type II [RCV002982617]	likely benign	17	80112559	80112559	Human	1	name
156023653	CV2141489	single nucleotide variant	NM_000152.5(GAA):c.2482-12T>C	Glycogen storage disease, type II [RCV002976276]	likely benign	17	80118181	80118181	Human	1	name
156221506	CV2144178	single nucleotide variant	NM_000152.5(GAA):c.1076-13C>T	Glycogen storage disease, type II [RCV003007400]	likely benign\|uncertain significance	17	80108476	80108476	Human	1	name
156133950	CV2187914	single nucleotide variant	NM_000152.5(GAA):c.1551+20G>A	Glycogen storage disease, type II [RCV003055939]	likely benign	17	80110860	80110860	Human	1	name
243052039	CV2412479	single nucleotide variant	NM_000152.5(GAA):c.1076-10T>A	Glycogen storage disease, type II [RCV005099292]\|not provided [RCV003130951]	uncertain significance	17	80108479	80108479	Human	1	name
243059736	CV2412487	single nucleotide variant	NM_000152.5(GAA):c.1637-40G>A	not provided [RCV003135295]	uncertain significance	17	80111943	80111943	Human		name
11552334	CV256521	single nucleotide variant	NM_000152.5(GAA):c.1551+49C>A	Glycogen storage disease, type II [RCV001527134]\|not provided [RCV001610560]\|not specified [RCV000254239]	benign	17	80110889	80110889	Human	1	name
11546304	CV256522	single nucleotide variant	NM_000152.5(GAA):c.1552-13G>A	Glycogen storage disease, type II [RCV000392826]\|not provided [RCV000786312]\|not specified [RCV000246280]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80110928	80110928	Human	1	name
11547139	CV256524	single nucleotide variant	NM_000152.5(GAA):c.1636+43G>T	Glycogen storage disease, type II [RCV001537766]\|not provided [RCV004709425]\|not specified [RCV000247374]	benign	17	80111068	80111068	Human	1	name
11550504	CV256526	single nucleotide variant	NM_000152.5(GAA):c.1888+21G>A	Glycogen storage disease, type II [RCV000671177]\|not provided [RCV000675234]\|not specified [RCV000251838]	benign	17	80112732	80112732	Human	1	name
11552286	CV256528	single nucleotide variant	NM_000152.5(GAA):c.2331+24T>C	Glycogen storage disease, type II [RCV001527105]\|not provided [RCV000675243]\|not specified [RCV000254178]	benign\|likely benign	17	80117133	80117133	Human	1	name
11639808	CV270554	single nucleotide variant	NM_000152.5(GAA):c.2332-10C>G	Glycogen storage disease, type II [RCV001084656]\|not provided [RCV000325242]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80117590	80117590	Human	1	name
402464452	CV2853645	single nucleotide variant	NM_000152.5(GAA):c.1076-15G>T	Glycogen storage disease, type II [RCV003502770]	likely benign	17	80108474	80108474	Human	1	name
402464402	CV2857139	single nucleotide variant	NM_000152.5(GAA):c.1551+10G>A	Glycogen storage disease, type II [RCV003502759]	likely benign	17	80110850	80110850	Human	1	name
402467593	CV2860283	duplication	NM_000152.5(GAA):c.2647-12dup	Glycogen storage disease, type II [RCV003503590]	likely benign	17	80118640	80118641	Human	1	name
402464787	CV2861133	deletion	NM_000152.5(GAA):c.1552-10del	Glycogen storage disease, type II [RCV003502843]	likely benign	17	80110930	80110930	Human	1	name
402464826	CV2861295	single nucleotide variant	NM_000152.5(GAA):c.1888+15G>A	Glycogen storage disease, type II [RCV003502854]	likely benign	17	80112726	80112726	Human	1	name
402465191	CV2862034	single nucleotide variant	NM_000152.5(GAA):c.1888+10T>C	Glycogen storage disease, type II [RCV003502944]	likely benign	17	80112721	80112721	Human	1	name
402468835	CV2870050	single nucleotide variant	NM_000152.5(GAA):c.1437+20G>T	Glycogen storage disease, type II [RCV003503955]	likely benign	17	80110075	80110075	Human	1	name
402468907	CV2872531	single nucleotide variant	NM_000152.5(GAA):c.2482-17T>C	Glycogen storage disease, type II [RCV003503859]	likely benign	17	80118176	80118176	Human	1	name
402468634	CV2876695	single nucleotide variant	NM_000152.5(GAA):c.1075+15C>T	Glycogen storage disease, type II [RCV003503902]	likely benign	17	80108424	80108424	Human	1	name
402468082	CV2878853	single nucleotide variant	NM_000152.5(GAA):c.2647-14T>A	Glycogen storage disease, type II [RCV003503752]	likely benign	17	80118639	80118639	Human	1	name
402469446	CV2880899	single nucleotide variant	NM_000152.5(GAA):c.2331+20G>T	Glycogen storage disease, type II [RCV003504098]	likely benign	17	80117129	80117129	Human	1	name
402469618	CV2881361	single nucleotide variant	NM_000152.5(GAA):c.1438-12C>G	Glycogen storage disease, type II [RCV003504144]	likely benign	17	80110715	80110715	Human	1	name
402469903	CV2892364	single nucleotide variant	NM_000152.5(GAA):c.2799+17T>C	Glycogen storage disease, type II [RCV003504248]	likely benign	17	80118822	80118822	Human	1	name
405130536	CV2895568	single nucleotide variant	NM_000152.5(GAA):c.2040+13T>C	Glycogen storage disease, type II [RCV003502089]	likely benign	17	80113040	80113040	Human	1	name
405132634	CV2897297	single nucleotide variant	NM_000152.5(GAA):c.2331+12G>C	Glycogen storage disease, type II [RCV003502307]	likely benign	17	80117121	80117121	Human	1	name
405133069	CV2897504	single nucleotide variant	NM_000152.5(GAA):c.1889-13T>C	Glycogen storage disease, type II [RCV003502353]	likely benign	17	80112863	80112863	Human	1	name
405130048	CV2905323	single nucleotide variant	NM_000152.5(GAA):c.2040+14G>A	Glycogen storage disease, type II [RCV003502036]	likely benign	17	80113041	80113041	Human	1	name
405131243	CV2906261	single nucleotide variant	NM_000152.5(GAA):c.1075+16T>C	Glycogen storage disease, type II [RCV003502160]	likely benign	17	80108425	80108425	Human	1	name
402465809	CV2909924	deletion	NM_000152.5(GAA):c.2331+17del	Glycogen storage disease, type II [RCV003503107]	likely benign	17	80117126	80117126	Human	1	name
402466223	CV2911167	single nucleotide variant	NM_000152.5(GAA):c.1194+15T>C	Glycogen storage disease, type II [RCV003503241]	likely benign	17	80108622	80108622	Human	1	name
402465370	CV2913537	single nucleotide variant	NM_000152.5(GAA):c.2799+18G>T	Glycogen storage disease, type II [RCV003502992]	likely benign	17	80118823	80118823	Human	1	name
402465552	CV2916417	single nucleotide variant	NM_000152.5(GAA):c.2799+15A>C	Glycogen storage disease, type II [RCV003503037]	likely benign	17	80118820	80118820	Human	1	name
405133561	CV2918736	single nucleotide variant	NM_000152.5(GAA):c.1552-20C>T	Glycogen storage disease, type II [RCV003502408]	likely benign	17	80110921	80110921	Human	1	name
402465272	CV2919464	single nucleotide variant	NM_000152.5(GAA):c.1754+12G>T	Glycogen storage disease, type II [RCV003502968]	likely benign	17	80112112	80112112	Human	1	name
402465860	CV2920752	single nucleotide variant	NM_000152.5(GAA):c.1195-19T>C	Glycogen storage disease, type II [RCV003503117]	likely benign	17	80108678	80108678	Human	1	name
402466613	CV2922260	single nucleotide variant	NM_000152.5(GAA):c.2481+10C>A	Glycogen storage disease, type II [RCV003503322]	likely benign	17	80117759	80117759	Human	1	name
402466917	CV2923120	single nucleotide variant	NM_000152.5(GAA):c.1327-18A>C	Glycogen storage disease, type II [RCV003503404]	likely benign	17	80109927	80109927	Human	1	name
402466565	CV2925544	single nucleotide variant	NM_000152.5(GAA):c.2041-20T>C	Glycogen storage disease, type II [RCV003503309]	likely benign	17	80113198	80113198	Human	1	name
402466750	CV2926198	single nucleotide variant	NM_000152.5(GAA):c.1889-18C>G	Glycogen storage disease, type II [RCV003503358]	likely benign	17	80112858	80112858	Human	1	name
402467006	CV2929443	single nucleotide variant	NM_000152.5(GAA):c.2800-11C>T	Glycogen storage disease, type II [RCV003503429]	likely benign	17	80119261	80119261	Human	1	name
402468902	CV2930016	single nucleotide variant	NM_000152.5(GAA):c.1327-10C>T	Glycogen storage disease, type II [RCV003503973]	likely benign	17	80109935	80109935	Human	1	name
405037154	CV2948267	single nucleotide variant	NM_000152.5(GAA):c.1438-12C>T	Glycogen storage disease, type II [RCV003609419]	likely benign	17	80110715	80110715	Human	1	name
405039102	CV2959017	deletion	NM_000152.5(GAA):c.1326+12del	Glycogen storage disease, type II [RCV003609588]	benign	17	80108836	80108836	Human	1	name
405044504	CV2964056	single nucleotide variant	NM_000152.5(GAA):c.1888+20G>C	GAA-related disorder [RCV003901248]\|Glycogen storage disease, type II [RCV003610055]	likely benign	17	80112731	80112731	Human	1	name , alternate_id
405044788	CV2964268	single nucleotide variant	NM_000152.5(GAA):c.1437+16A>G	Glycogen storage disease, type II [RCV003610076]	likely benign	17	80110071	80110071	Human	1	name
405046678	CV2976627	single nucleotide variant	NM_000152.5(GAA):c.1754+18C>T	Glycogen storage disease, type II [RCV003610216]	likely benign	17	80112118	80112118	Human	1	name
405049716	CV2987180	single nucleotide variant	NM_000152.5(GAA):c.1636+11C>T	Glycogen storage disease, type II [RCV003610423]	likely benign	17	80111036	80111036	Human	1	name
405047302	CV2987499	deletion	NM_000152.5(GAA):c.2189+16del	Glycogen storage disease, type II [RCV003610242]	likely benign	17	80113382	80113382	Human	1	name
405028948	CV2991746	single nucleotide variant	NM_000152.5(GAA):c.1327-12C>T	Glycogen storage disease, type II [RCV003608670]	likely benign	17	80109933	80109933	Human	1	name
405028785	CV2995073	single nucleotide variant	NM_000152.5(GAA):c.2646+12G>A	Glycogen storage disease, type II [RCV003608657]	likely benign	17	80118369	80118369	Human	1	name
405029999	CV2996686	duplication	NM_000152.5(GAA):c.2331+19dup	Glycogen storage disease, type II [RCV003608755]	likely benign	17	80117126	80117127	Human	1	name
405031170	CV2997014	single nucleotide variant	NM_000152.5(GAA):c.1326+16C>T	Glycogen storage disease, type II [RCV003608781]	likely benign	17	80108844	80108844	Human	1	name
405030834	CV3008325	single nucleotide variant	NM_000152.5(GAA):c.1754+15C>T	Glycogen storage disease, type II [RCV003608847]	likely benign	17	80112115	80112115	Human	1	name
405033480	CV3010329	single nucleotide variant	NM_000152.5(GAA):c.2647-17C>G	Glycogen storage disease, type II [RCV003608971]	likely benign	17	80118636	80118636	Human	1	name
405051892	CV3032351	single nucleotide variant	NM_000152.5(GAA):c.1636+15C>T	Glycogen storage disease, type II [RCV003610590]	likely benign	17	80111040	80111040	Human	1	name
405051946	CV3032437	single nucleotide variant	NM_000152.5(GAA):c.2799+13A>C	Glycogen storage disease, type II [RCV003610594]	likely benign	17	80118818	80118818	Human	1	name
405052889	CV3034215	single nucleotide variant	NM_000152.5(GAA):c.2040+15G>A	Glycogen storage disease, type II [RCV003610695]	likely benign	17	80113042	80113042	Human	1	name
405053843	CV3044035	single nucleotide variant	NM_000152.5(GAA):c.1195-18C>A	Glycogen storage disease, type II [RCV003610775]	likely benign	17	80108679	80108679	Human	1	name
405054187	CV3044840	single nucleotide variant	NM_000152.5(GAA):c.1636+12C>G	Glycogen storage disease, type II [RCV003610805]	likely benign	17	80111037	80111037	Human	1	name
405053442	CV3053725	single nucleotide variant	NM_000152.5(GAA):c.1889-15A>T	Glycogen storage disease, type II [RCV003610741]	likely benign	17	80112861	80112861	Human	1	name
405056153	CV3060519	single nucleotide variant	NM_000152.5(GAA):c.2190-20T>G	Glycogen storage disease, type II [RCV003610951]	likely benign	17	80116948	80116948	Human	1	name
405056741	CV3064526	single nucleotide variant	NM_000152.5(GAA):c.2799+16G>A	Glycogen storage disease, type II [RCV003610995]	likely benign	17	80118821	80118821	Human	1	name
405055578	CV3066806	single nucleotide variant	NM_000152.5(GAA):c.1438-19G>A	Glycogen storage disease, type II [RCV003610910]	likely benign	17	80110708	80110708	Human	1	name
405055954	CV3067417	single nucleotide variant	NM_000152.5(GAA):c.1327-16G>A	Glycogen storage disease, type II [RCV003610937]	likely benign	17	80109929	80109929	Human	1	name
405041299	CV3069538	single nucleotide variant	NM_000152.5(GAA):c.2331+12G>A	Glycogen storage disease, type II [RCV003609706]	likely benign	17	80117121	80117121	Human	1	name
405042374	CV3071567	deletion	NM_000152.5(GAA):c.2800-13del	Glycogen storage disease, type II [RCV003609896]	likely benign	17	80119259	80119259	Human	1	name
405043056	CV3072280	single nucleotide variant	NM_000152.5(GAA):c.1888+12C>A	Glycogen storage disease, type II [RCV003609949]	likely benign	17	80112723	80112723	Human	1	name
405042289	CV3074233	single nucleotide variant	NM_000152.5(GAA):c.1889-20G>A	Glycogen storage disease, type II [RCV003609889]	likely benign	17	80112856	80112856	Human	1	name
405041646	CV3076058	single nucleotide variant	NM_000152.5(GAA):c.1438-14C>T	Glycogen storage disease, type II [RCV003609832]	likely benign	17	80110713	80110713	Human	1	name
405041690	CV3076379	single nucleotide variant	NM_000152.5(GAA):c.1194+15T>A	Glycogen storage disease, type II [RCV003609836]	likely benign	17	80108622	80108622	Human	1	name
405042147	CV3076613	duplication	NM_000152.5(GAA):c.1637-12dup	Glycogen storage disease, type II [RCV003609877]	benign	17	80111966	80111967	Human	1	name
405042104	CV3079772	single nucleotide variant	NM_000152.5(GAA):c.1437+18G>C	Glycogen storage disease, type II [RCV003609873]	likely benign	17	80110073	80110073	Human	1	name
405043149	CV3080444	single nucleotide variant	NM_000152.5(GAA):c.2332-12A>G	Glycogen storage disease, type II [RCV003609955]	likely benign	17	80117588	80117588	Human	1	name
405201256	CV3128889	single nucleotide variant	NM_000152.5(GAA):c.2331+12G>T	Glycogen storage disease, type II [RCV003821932]	likely benign	17	80117121	80117121	Human	1	name
405114929	CV3134081	single nucleotide variant	NM_000152.5(GAA):c.2040+18G>A	Glycogen storage disease, type II [RCV003836683]	likely benign	17	80113045	80113045	Human	1	name
402518971	CV3135924	deletion	NM_000152.5(GAA):c.1755-16del	Glycogen storage disease, type II [RCV003824550]	likely benign	17	80112562	80112562	Human	1	name
405111325	CV3137285	single nucleotide variant	NM_000152.5(GAA):c.2799+12C>T	Glycogen storage disease, type II [RCV003836248]	likely benign	17	80118817	80118817	Human	1	name
405042169	CV3141200	single nucleotide variant	NM_000152.5(GAA):c.1195-17C>G	Glycogen storage disease, type II [RCV003831493]	likely benign	17	80108680	80108680	Human	1	name
405198433	CV3147059	single nucleotide variant	NM_000152.5(GAA):c.1194+10G>T	Glycogen storage disease, type II [RCV003844219]	likely benign	17	80108617	80108617	Human	1	name
405180084	CV3148851	single nucleotide variant	NM_000152.5(GAA):c.2647-12T>C	Glycogen storage disease, type II [RCV003858629]	likely benign	17	80118641	80118641	Human	1	name
405156392	CV3152509	single nucleotide variant	NM_000152.5(GAA):c.1636+19T>A	Glycogen storage disease, type II [RCV003840436]	likely benign	17	80111044	80111044	Human	1	name
405076663	CV3156089	single nucleotide variant	NM_000152.5(GAA):c.2040+18G>T	Glycogen storage disease, type II [RCV003851147]	likely benign	17	80113045	80113045	Human	1	name
405245274	CV3161666	single nucleotide variant	NM_000152.5(GAA):c.2800-20T>A	Glycogen storage disease, type II [RCV003868379]	likely benign	17	80119252	80119252	Human	1	name
405088597	CV3167453	single nucleotide variant	NM_000152.5(GAA):c.1552-16A>G	Glycogen storage disease, type II [RCV003852035]	likely benign	17	80110925	80110925	Human	1	name
405254383	CV3175102	single nucleotide variant	NM_000152.5(GAA):c.1551+11C>T	Glycogen storage disease, type II [RCV003871554]	likely benign	17	80110851	80110851	Human	1	name
405254530	CV3175394	single nucleotide variant	NM_000152.5(GAA):c.2041-15C>G	Glycogen storage disease, type II [RCV003871661]	likely benign	17	80113203	80113203	Human	1	name
405228991	CV3180468	single nucleotide variant	NM_000152.5(GAA):c.2646+19C>T	Glycogen storage disease, type II [RCV003864889]	likely benign	17	80118376	80118376	Human	1	name
405267696	CV3189518	single nucleotide variant	NM_000152.5(GAA):c.2647-27C>T	GAA-related disorder [RCV003898912]	likely benign	17	80118626	80118626	Human		name , trait , alternate_id
405279057	CV3219345	single nucleotide variant	NM_000152.5(GAA):c.1888+11A>C	GAA-related disorder [RCV003954834]	likely benign	17	80112722	80112722	Human		name , trait , alternate_id
11660302	CV330464	single nucleotide variant	NM_000152.5(GAA):c.2800-11C>G	Glycogen storage disease, type II [RCV000365905]\|not specified [RCV000422518]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80119261	80119261	Human	1	name
11663491	CV340670	single nucleotide variant	NM_000152.5(GAA):c.1075+12T>G	Glycogen storage disease, type II [RCV000396659]\|not specified [RCV000599681]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80108421	80108421	Human	1	name
11649434	CV347669	single nucleotide variant	NM_000152.5(GAA):c.1195-15G>A	GAA-related disorder [RCV003912357]\|Glycogen storage disease, type II [RCV000287500]\|not specified [RCV000419694]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80108682	80108682	Human	1	name , alternate_id
12739427	CV358492	single nucleotide variant	NM_000152.5(GAA):c.1076-22T>G	Glycogen storage disease, type II [RCV000409600]\|not provided [RCV001570177]	pathogenic\|likely pathogenic	17	80108467	80108467	Human	1	name
597882088	CV3745014	single nucleotide variant	NM_000152.5(GAA):c.2646+16G>A	Glycogen storage disease, type II [RCV005070039]	likely benign	17	80118373	80118373	Human	1	name
597960694	CV3756248	single nucleotide variant	NM_000152.5(GAA):c.1889-17T>C	Glycogen storage disease, type II [RCV005081565]	likely benign	17	80112859	80112859	Human	1	name
12847774	CV376646	single nucleotide variant	NM_000152.5(GAA):c.2041-17C>T	Glycogen storage disease, type II [RCV002065038]\|not specified [RCV000444091]	likely benign	17	80113201	80113201	Human	1	name
597876306	CV3766593	single nucleotide variant	NM_000152.5(GAA):c.2040+20A>C	Glycogen storage disease, type II [RCV005108533]	likely benign	17	80113047	80113047	Human	1	name
12842495	CV376758	single nucleotide variant	NM_000152.5(GAA):c.1194+17G>T	GAA-related disorder [RCV003922772]\|Glycogen storage disease, type II [RCV002062675]\|not provided [RCV004705556]\|not specified [RCV000434518]	likely benign	17	80108624	80108624	Human	1	name , alternate_id
12836959	CV376762	single nucleotide variant	NM_000152.5(GAA):c.1551+12C>A	Glycogen storage disease, type II [RCV002062618]\|not specified [RCV000424323]	likely benign	17	80110852	80110852	Human	1	name
597927294	CV3783409	single nucleotide variant	NM_000152.5(GAA):c.1437+17G>C	Glycogen storage disease, type II [RCV005116096]	likely benign	17	80110072	80110072	Human	1	name
597887434	CV3787590	single nucleotide variant	NM_000152.5(GAA):c.2189+16A>G	Glycogen storage disease, type II [RCV005125156]	likely benign	17	80113382	80113382	Human	1	name
12834791	CV378822	single nucleotide variant	NM_000152.5(GAA):c.1754+17G>A	Glycogen storage disease, type II [RCV002065039]\|not specified [RCV000420561]	likely benign	17	80112117	80112117	Human	1	name
12844655	CV378828	single nucleotide variant	NM_000152.5(GAA):c.1755-18T>C	Glycogen storage disease, type II [RCV002062331]\|not provided [RCV000675232]\|not specified [RCV000438385]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80112560	80112560	Human	1	name
597949521	CV3797646	single nucleotide variant	NM_000152.5(GAA):c.1437+13T>G	Glycogen storage disease, type II [RCV005135638]	likely benign	17	80110068	80110068	Human	1	name
597970949	CV3802376	single nucleotide variant	NM_000152.5(GAA):c.2040+12G>T	Glycogen storage disease, type II [RCV005141974]	likely benign	17	80113039	80113039	Human	1	name
597905859	CV3803988	deletion	NM_000152.5(GAA):c.1437+16del	Glycogen storage disease, type II [RCV005153534]	likely benign	17	80110071	80110071	Human	1	name
597881351	CV3810372	single nucleotide variant	NM_000152.5(GAA):c.1437+19G>T	Glycogen storage disease, type II [RCV005149833]	likely benign	17	80110074	80110074	Human	1	name
597952777	CV3815832	single nucleotide variant	NM_000152.5(GAA):c.2040+17G>T	Glycogen storage disease, type II [RCV005161585]	likely benign	17	80113044	80113044	Human	1	name
597913866	CV3817449	single nucleotide variant	NM_000152.5(GAA):c.2331+11G>A	Glycogen storage disease, type II [RCV005154651]	likely benign	17	80117120	80117120	Human	1	name
597861745	CV3822549	single nucleotide variant	NM_000152.5(GAA):c.1637-16C>A	Glycogen storage disease, type II [RCV005175079]	likely benign	17	80111967	80111967	Human	1	name
597837568	CV3828831	single nucleotide variant	NM_000152.5(GAA):c.2646+19C>G	Glycogen storage disease, type II [RCV005171524]	likely benign	17	80118376	80118376	Human	1	name
597837939	CV3828888	single nucleotide variant	NM_000152.5(GAA):c.1888+14A>C	Glycogen storage disease, type II [RCV005171581]	likely benign	17	80112725	80112725	Human	1	name
597859709	CV3832904	single nucleotide variant	NM_000152.5(GAA):c.1326+17T>C	Glycogen storage disease, type II [RCV005174817]	likely benign	17	80108845	80108845	Human	1	name
597946386	CV3841644	single nucleotide variant	NM_000152.5(GAA):c.2041-18C>T	Glycogen storage disease, type II [RCV005189077]	likely benign	17	80113200	80113200	Human	1	name
597953573	CV3844019	single nucleotide variant	NM_000152.5(GAA):c.1551+14C>T	Glycogen storage disease, type II [RCV005190881]	likely benign	17	80110854	80110854	Human	1	name
597953621	CV3844035	duplication	NM_000152.5(GAA):c.1754+21dup	Glycogen storage disease, type II [RCV005190897]	benign	17	80112117	80112118	Human	1	name
597904451	CV3856377	single nucleotide variant	NM_000152.5(GAA):c.1438-16G>A	Glycogen storage disease, type II [RCV005202605]	likely benign	17	80110711	80110711	Human	1	name
597881242	CV3857412	single nucleotide variant	NM_000152.5(GAA):c.2332-19A>C	Glycogen storage disease, type II [RCV005199028]	likely benign	17	80117581	80117581	Human	1	name
597917459	CV3861367	single nucleotide variant	NM_000152.5(GAA):c.2800-18G>C	Glycogen storage disease, type II [RCV005204524]	likely benign	17	80119254	80119254	Human	1	name
13520201	CV487921	single nucleotide variant	NM_000152.5(GAA):c.2646+39G>A	not specified [RCV000587340]	benign\|likely benign	17	80118396	80118396	Human		name
13521471	CV487924	single nucleotide variant	NM_000152.5(GAA):c.2646+55G>T	not provided [RCV000589352]	likely benign	17	80118412	80118412	Human		name
13515358	CV488265	single nucleotide variant	NM_000152.5(GAA):c.1551+42G>A	not provided [RCV001637095]\|not specified [RCV000594177]	benign	17	80110882	80110882	Human		name
13535866	CV506459	single nucleotide variant	NM_000152.5(GAA):c.1437+19G>A	Glycogen storage disease, type II [RCV002064308]\|not specified [RCV000608166]	likely benign\|uncertain significance	17	80110074	80110074	Human	1	name
13530491	CV506464	single nucleotide variant	NM_000152.5(GAA):c.1637-12C>T	Glycogen storage disease, type II [RCV002065350]\|not specified [RCV000606143]	likely benign	17	80111971	80111971	Human	1	name
13537456	CV506469	single nucleotide variant	NM_000152.5(GAA):c.2040+17G>A	Glycogen storage disease, type II [RCV002062834]\|not specified [RCV000610426]	likely benign\|conflicting interpretations of pathogenicity	17	80113044	80113044	Human	1	name
13530636	CV506767	single nucleotide variant	NM_000152.5(GAA):c.1075+20C>T	Glycogen storage disease, type II [RCV002064156]\|not specified [RCV000600772]	likely benign	17	80108429	80108429	Human	1	name
13528368	CV506770	single nucleotide variant	NM_000152.5(GAA):c.1552-14C>T	GAA-related disorder [RCV003935639]\|Glycogen storage disease, type II [RCV001123715]\|not provided [RCV001704699]\|not specified [RCV003230552]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80110927	80110927	Human	1	name , alternate_id
13535711	CV506780	single nucleotide variant	NM_000152.5(GAA):c.2040+19C>T	not specified [RCV000602531]	likely benign	17	80113046	80113046	Human		name
13532948	CV506782	single nucleotide variant	NM_000152.5(GAA):c.2041-17C>A	Glycogen storage disease, type II [RCV002064301]\|not specified [RCV000601524]	likely benign	17	80113201	80113201	Human	1	name
13540627	CV507208	single nucleotide variant	NM_000152.5(GAA):c.1437+20G>A	Glycogen storage disease, type II [RCV002531570]\|not specified [RCV000614969]	likely benign	17	80110075	80110075	Human	1	name
13535326	CV507223	single nucleotide variant	NM_000152.5(GAA):c.2799+19G>A	Glycogen storage disease, type II [RCV002062833]\|not provided [RCV001704727]	benign\|likely benign	17	80118824	80118824	Human	1	name
13787599	CV548435	deletion	NM_000152.5(GAA):c.2647-23del	Glycogen storage disease, type II [RCV000673541]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80118627	80118627	Human	1	name
13791879	CV548446	single nucleotide variant	NM_000152.5(GAA):c.2040+16C>T	Glycogen storage disease, type II [RCV000668010]	likely benign	17	80113043	80113043	Human	1	name
13787278	CV548792	single nucleotide variant	NM_000152.5(GAA):c.1754+21C>T	Glycogen storage disease, type II [RCV000664749]	likely benign	17	80112121	80112121	Human	1	name
13784624	CV548824	single nucleotide variant	NM_000152.5(GAA):c.2647-20T>G	Glycogen storage disease, type II [RCV000671068]\|not provided [RCV001816675]	likely pathogenic\|uncertain significance	17	80118633	80118633	Human	1	name
13791093	CV549181	single nucleotide variant	NM_000152.5(GAA):c.2040+69A>G	Glycogen storage disease, type II [RCV000667068]\|not provided [RCV004710188]	benign	17	80113096	80113096	Human	1	name
13786348	CV549762	single nucleotide variant	NM_000152.5(GAA):c.2190-29G>A	not provided [RCV000675241]	likely benign	17	80116939	80116939	Human		name
13812786	CV572397	single nucleotide variant	NM_000152.5(GAA):c.2190-10C>A	Glycogen storage disease, type II [RCV000703929]	likely benign\|uncertain significance	17	80116958	80116958	Human	1	name
14733634	CV668275	single nucleotide variant	NM_000152.5(GAA):c.-32-181C>T	not provided [RCV000837183]	likely benign	17	80104374	80104374	Human		name
14739741	CV668277	single nucleotide variant	NM_000152.5(GAA):c.547-238T>C	not provided [RCV000840014]	benign	17	80105511	80105511	Human		name
14740542	CV669114	single nucleotide variant	NM_000152.5(GAA):c.546+293G>A	not provided [RCV000840391]	benign	17	80105425	80105425	Human		name
14739733	CV669116	single nucleotide variant	NM_000152.5(GAA):c.547-243C>G	not provided [RCV000840011]	benign	17	80105506	80105506	Human		name
14739747	CV669594	single nucleotide variant	NM_000152.5(GAA):c.693-216T>C	not provided [RCV000840016]	benign	17	80107341	80107341	Human		name
14741350	CV669608	single nucleotide variant	NM_000152.5(GAA):c.2482-18G>A	Glycogen storage disease, type II [RCV002067526]\|not provided [RCV000840748]	likely benign	17	80118175	80118175	Human	1	name
15135429	CV760671	single nucleotide variant	NM_000152.5(GAA):c.1438-10C>T	GAA-related disorder [RCV003895601]\|Glycogen storage disease, type II [RCV000920849]	likely benign	17	80110717	80110717	Human	1	name , alternate_id
15125676	CV787968	single nucleotide variant	NM_000152.5(GAA):c.2799+10C>G	Glycogen storage disease, type II [RCV001403808]	likely benign	17	80118815	80118815	Human	1	name
28908736	CV880615	single nucleotide variant	NM_000152.5(GAA):c.1076-15G>C	Glycogen storage disease, type II [RCV001128338]	conflicting interpretations of pathogenicity\|uncertain significance	17	80108474	80108474	Human	1	name
34895814	CV917552	single nucleotide variant	NM_000152.5(GAA):c.1195-22C>T	not specified [RCV001193014]	uncertain significance	17	80108675	80108675	Human		name
8639385	CV98369	single nucleotide variant	NM_000152.5(GAA):c.1075+13C>T	Glycogen storage disease, type II [RCV001128337]\|not provided [RCV000675225]\|not specified [RCV000078154]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	17	80108422	80108422	Human	1	name
8639387	CV98371	single nucleotide variant	NM_000152.5(GAA):c.1327-18A>G	Glycogen storage disease, type II [RCV000606017]\|not provided [RCV000675227]\|not specified [RCV000078156]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	17	80109927	80109927	Human	1	name
8639389	CV98373	single nucleotide variant	NM_000152.5(GAA):c.1438-19G>C	Glycogen storage disease, type II [RCV000610914]\|not provided [RCV000675229]\|not specified [RCV000078158]	benign	17	80110708	80110708	Human	1	name
8639393	CV98377	single nucleotide variant	NM_000152.5(GAA):c.1754+12G>A	Glycogen storage disease, type II [RCV000261416]\|not provided [RCV000675231]\|not specified [RCV000078162]	benign\|likely benign	17	80112112	80112112	Human	1	name
8639395	CV98379	single nucleotide variant	NM_000152.5(GAA):c.2040+20A>G	Glycogen storage disease, type II [RCV000605515]\|not provided [RCV000675236]\|not specified [RCV000078164]	benign	17	80113047	80113047	Human	1	name
8639399	CV98383	single nucleotide variant	NM_000152.5(GAA):c.2331+20G>A	Glycogen storage disease, type II [RCV000600128]\|not provided [RCV000675242]\|not specified [RCV000078169]	benign	17	80117129	80117129	Human	1	name
8639400	CV98384	single nucleotide variant	NM_000152.5(GAA):c.2332-12A>T	Glycogen storage disease, type II [RCV001248964]\|not provided [RCV000723547]\|not specified [RCV000244544]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80117588	80117588	Human	1	name
8639403	CV98387	single nucleotide variant	NM_000152.5(GAA):c.2481+16G>A	GAA-related disorder [RCV003925037]\|Glycogen storage disease, type II [RCV001249017]\|not provided [RCV000675247]\|not specified [RCV000078173]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80117765	80117765	Human	1	name , alternate_id
127293634	CV1162114	single nucleotide variant	NM_000152.5(GAA):c.1438-108G>A	Glycogen storage disease, type II [RCV001527133]\|not provided [RCV001712948]	benign	17	80110619	80110619	Human	1	name
127293639	CV1162115	single nucleotide variant	NM_000152.5(GAA):c.1637-185A>G	Glycogen storage disease, type II [RCV001527135]\|not provided [RCV001536763]	benign	17	80111798	80111798	Human	1	name
127293643	CV1162116	single nucleotide variant	NM_000152.5(GAA):c.1754+104C>G	Glycogen storage disease, type II [RCV001527136]\|not provided [RCV001655793]	benign	17	80112204	80112204	Human	1	name
127293645	CV1162117	single nucleotide variant	NM_000152.5(GAA):c.1754+144C>T	Glycogen storage disease, type II [RCV001527137]\|not provided [RCV001658239]	benign	17	80112244	80112244	Human	1	name
150338956	CV1167703	single nucleotide variant	NM_000152.5(GAA):c.2332-170C>G	not provided [RCV001533927]	likely benign	17	80117430	80117430	Human		name
150332703	CV1169756	single nucleotide variant	NM_000152.5(GAA):c.1755-186A>G	not provided [RCV001537003]	likely benign	17	80112392	80112392	Human		name
150417093	CV1181588	single nucleotide variant	NM_000152.5(GAA):c.1637-138C>T	not provided [RCV001549966]	likely benign	17	80111845	80111845	Human		name
150420885	CV1181589	single nucleotide variant	NM_000152.5(GAA):c.2331+151C>T	not provided [RCV001551759]	likely benign	17	80117260	80117260	Human		name
150426681	CV1188603	single nucleotide variant	NM_000152.5(GAA):c.2331+156C>G	not provided [RCV001559886]	likely benign	17	80117265	80117265	Human		name
150419922	CV1195265	duplication	NM_000152.5(GAA):c.1755-200dup	not provided [RCV001569893]	likely benign	17	80112370	80112371	Human		name
150421766	CV1198987	single nucleotide variant	NM_000152.5(GAA):c.1636+118G>A	not provided [RCV001578172]	likely benign	17	80111143	80111143	Human		name
150420315	CV1198988	single nucleotide variant	NM_000152.5(GAA):c.2189+221A>C	not provided [RCV001577558]	likely benign	17	80113587	80113587	Human		name
150464238	CV1214905	single nucleotide variant	NM_000152.5(GAA):c.1636+269C>T	not provided [RCV001613901]	benign	17	80111294	80111294	Human		name
150509463	CV1229895	deletion	NM_000152.5(GAA):c.1636+117del	not provided [RCV001636475]	benign	17	80111142	80111142	Human		name
150433202	CV1230445	single nucleotide variant	NM_000152.5(GAA):c.1636+284G>C	not provided [RCV001643390]	benign	17	80111309	80111309	Human		name
150467037	CV1240510	single nucleotide variant	NM_000152.5(GAA):c.1636+118G>T	not provided [RCV001650271]	benign	17	80111143	80111143	Human		name
150439827	CV1247773	single nucleotide variant	NM_000152.5(GAA):c.1326+132G>A	not provided [RCV001666140]	benign	17	80108960	80108960	Human		name
150468912	CV1249008	single nucleotide variant	NM_000152.5(GAA):c.1327-118A>G	not provided [RCV001670769]	benign	17	80109827	80109827	Human		name
150443666	CV1264627	deletion	NM_000152.5(GAA):c.1327-315del	not provided [RCV001679611]	benign	17	80109625	80109625	Human		name
150476198	CV1279207	deletion	NM_000152.5(GAA):c.1327-321del	not provided [RCV001713949]	benign	17	80109624	80109624	Human		name
243052050	CV2412488	single nucleotide variant	NM_000152.5(GAA):c.2189+614T>C	not provided [RCV003130955]	uncertain significance	17	80113980	80113980	Human		name
13520062	CV487919	single nucleotide variant	NM_000152.5(GAA):c.2481+128A>G	not provided [RCV000587074]	uncertain significance	17	80117877	80117877	Human		name
14716284	CV668278	single nucleotide variant	NM_000152.5(GAA):c.1636+210G>A	not provided [RCV000829676]	benign	17	80111235	80111235	Human		name
14740548	CV669119	single nucleotide variant	NM_000152.5(GAA):c.2189+263G>A	not provided [RCV000840393]	benign	17	80113629	80113629	Human		name
14739736	CV669122	single nucleotide variant	NM_000152.5(GAA):c.2332-198A>T	not provided [RCV000840012]	benign	17	80117402	80117402	Human		name
14740545	CV669364	single nucleotide variant	NM_000152.5(GAA):c.1327-269A>G	not provided [RCV000840392]	benign	17	80109676	80109676	Human		name
14739754	CV669366	single nucleotide variant	NM_000152.5(GAA):c.1327-179G>A	not provided [RCV000840021]	benign	17	80109766	80109766	Human		name
14739759	CV669367	single nucleotide variant	NM_000152.5(GAA):c.2800-227C>T	not provided [RCV000840024]	benign	17	80119045	80119045	Human		name
14739755	CV669602	single nucleotide variant	NM_000152.5(GAA):c.1438-220A>G	not provided [RCV000840022]	benign	17	80110507	80110507	Human		name
14723665	CV669605	single nucleotide variant	NM_000152.5(GAA):c.2190-286G>A	not provided [RCV000832641]	likely benign	17	80116682	80116682	Human		name
401738614	CV2738320	deletion	NM_000152.5(GAA):c.956-5_957del	Glycogen storage disease, type II [RCV003317708]	likely pathogenic	17	80108284	80108290	Human	1	name
408383529	CV3503974	microsatellite	NM_000152.5(GAA):c.2800-15CT[2]	GAA-related disorder [RCV004730637]	uncertain significance	17	80119257	80119260	Human		name , trait , alternate_id
597971241	CV3750668	microsatellite	NM_000152.5(GAA):c.2647-20TC[3]	Glycogen storage disease, type II [RCV005084412]	likely benign	17	80118633	80118634	Human		name
13536176	CV506784	microsatellite	NM_000152.5(GAA):c.2800-15CT[3]	GAA-related disorder [RCV003953024]\|Glycogen storage disease, type II [RCV001580525]\|not provided [RCV000732109]\|not specified [RCV000608615]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80119257	80119258	Human		name , alternate_id
155268836	CV1705663	microsatellite	NM_000152.5(GAA):c.547-176TCC[2]	not provided [RCV002286270]	likely benign	17	80105573	80105575	Human		name
156195380	CV1994884	microsatellite	NM_000152.5(GAA):c.546+3GGGCA[3]	Glycogen storage disease, type II [RCV002643448]	likely benign	17	80105134	80105135	Human		name
14691325	CV621866	deletion	NM_000152.5(GAA):c.148_859-11del	Glycogen storage disease, type II [RCV000781388]	pathogenic	17	80104729	80107784	Human	1	name
127231739	CV1083681	duplication	NM_000152.5(GAA):c.546+2_546+6dup	Glycogen storage disease, type II [RCV001411961]	likely benign	17	80105133	80105134	Human	1	name
150533310	CV1292537	deletion	NM_000152.5(GAA):c.955+5_955+6del	not provided [RCV001754144]	uncertain significance	17	80107901	80107902	Human		name
8596264	CV19070	deletion	NM_000152.5(GAA):c.2483_2646+1del	Glycogen storage disease, type II [RCV000004246]	pathogenic	17	80118193	80118357	Human	1	name
405132815	CV2907527	deletion	NM_000152.5(GAA):c.-32-385_143del	Glycogen storage disease, type II [RCV003502327]	pathogenic	17	80104167	80104726	Human	1	name
13782678	CV548436	deletion	NM_000152.5(GAA):c.2647-1_2648del	Glycogen storage disease, type II [RCV000669171]	likely pathogenic	17	80118651	80118653	Human	1	name
13815564	CV572410	duplication	NM_000152.5(GAA):c.2330_2331+4dup	Cardiovascular phenotype [RCV004993975]\|Glycogen storage disease, type II [RCV000705785]\|not provided [RCV001592906]	uncertain significance	17	80117105	80117106	Human	2	name
40815838	CV970411	deletion	NM_000152.5(GAA):c.546+2_546+5del	Glycogen storage disease, type II [RCV001261922]\|not provided [RCV003482356]	pathogenic\|likely pathogenic	17	80105132	80105135	Human	1	name
152116653	CV1523820	duplication	NM_000152.5(GAA):c.858+5_858+11dup	Glycogen storage disease, type II [RCV002135180]	likely benign	17	80107726	80107727	Human	1	name
152125984	CV1532419	single nucleotide variant	NM_000152.5(GAA):c.21C>T (p.Pro7=)	Cardiovascular phenotype [RCV004046529]\|Glycogen storage disease, type II [RCV002118457]	likely benign	17	80104607	80104607	Human	2	name
9687292	CV177733	microsatellite	NM_000152.5(GAA):c.858+6GCGGCGG[3]	Glycogen storage disease, type II [RCV001429143]\|not specified [RCV000153286]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80107727	80107728	Human		name
155956780	CV1915502	single nucleotide variant	NM_000152.5(GAA):c.24C>T (p.Cys8=)	Glycogen storage disease, type II [RCV002616518]	likely benign	17	80104610	80104610	Human	1	name
402465151	CV2865359	deletion	NM_000152.5(GAA):c.546+7_546+12del	Glycogen storage disease, type II [RCV003502933]	likely benign	17	80105139	80105144	Human	1	name
405056653	CV3068337	microsatellite	NM_000152.5(GAA):c.546+13GGGGCG[3]	Glycogen storage disease, type II [RCV003610989]	likely benign	17	80105144	80105145	Human		name
405868850	CV3400630	deletion	NM_000152.5(GAA):c.1327-58_1352del	Glycogen storage disease, type II [RCV004576633]	likely pathogenic	17	80109884	80109967	Human	1	name
13833066	CV584294	single nucleotide variant	NM_000152.5(GAA):c.18G>C (p.Pro6=)	Glycogen storage disease, type II [RCV001496183]\|not provided [RCV000728216]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80104604	80104604	Human	1	name
13837958	CV589256	single nucleotide variant	NM_000152.5(GAA):c.18G>A (p.Pro6=)	Glycogen storage disease, type II [RCV001080426]\|not provided [RCV000734530]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80104604	80104604	Human	1	name
127231632	CV1083676	single nucleotide variant	NM_000152.5(GAA):c.42C>T (p.Ala14=)	Glycogen storage disease, type II [RCV001403256]	likely benign	17	80104628	80104628	Human	1	name
127231678	CV1083677	single nucleotide variant	NM_000152.5(GAA):c.72T>C (p.Ala24=)	Glycogen storage disease, type II [RCV001408413]	likely benign	17	80104658	80104658	Human	1	name
127302244	CV1126860	single nucleotide variant	NM_000152.5(GAA):c.75A>G (p.Ala25=)	Glycogen storage disease, type II [RCV001454402]	likely benign	17	80104661	80104661	Human	1	name
127300612	CV1126861	single nucleotide variant	NM_000152.5(GAA):c.84G>A (p.Gly28=)	Glycogen storage disease, type II [RCV001453938]	likely benign	17	80104670	80104670	Human	1	name
127331910	CV1126862	single nucleotide variant	NM_000152.5(GAA):c.91C>T (p.Leu31=)	Glycogen storage disease, type II [RCV001471846]	likely benign	17	80104677	80104677	Human	1	name
127317167	CV1147764	single nucleotide variant	NM_000152.5(GAA):c.78C>T (p.Leu26=)	Glycogen storage disease, type II [RCV001503318]	likely benign	17	80104664	80104664	Human	1	name
151789139	CV1377150	single nucleotide variant	NM_000152.5(GAA):c.69C>A (p.Thr23=)	Cardiovascular phenotype [RCV003166960]\|Glycogen storage disease, type II [RCV001898007]	likely benign\|uncertain significance	17	80104655	80104655	Human	2	name
151884078	CV1428514	single nucleotide variant	NM_000152.5(GAA):c.54C>G (p.Leu18=)	Glycogen storage disease, type II [RCV002000191]	likely benign	17	80104640	80104640	Human	1	name
152157377	CV1541762	single nucleotide variant	NM_000152.5(GAA):c.79C>T (p.Leu27=)	Glycogen storage disease, type II [RCV002103133]	likely benign	17	80104665	80104665	Human	1	name
152058058	CV1543534	deletion	NM_000152.5(GAA):c.546+12_546+17del	Glycogen storage disease, type II [RCV002128017]	likely benign	17	80105140	80105145	Human	1	name
152107285	CV1579335	single nucleotide variant	NM_000152.5(GAA):c.99T>C (p.His33=)	Cardiovascular phenotype [RCV004047032]\|Glycogen storage disease, type II [RCV002173880]	likely benign	17	80104685	80104685	Human	2	name
152079730	CV1579909	single nucleotide variant	NM_000152.5(GAA):c.75A>C (p.Ala25=)	Glycogen storage disease, type II [RCV002076207]	likely benign	17	80104661	80104661	Human	1	name
152070928	CV1581341	single nucleotide variant	NM_000152.5(GAA):c.48C>T (p.Cys16=)	Glycogen storage disease, type II [RCV002091577]	likely benign	17	80104634	80104634	Human	1	name
10042463	CV186987	single nucleotide variant	NM_000152.5(GAA):c.1A>G (p.Met1Val)	Glycogen storage disease, type II [RCV000169114]	pathogenic\|likely pathogenic	17	80104587	80104587	Human	1	name
155975739	CV1885999	single nucleotide variant	NM_000152.5(GAA):c.87C>T (p.His29=)	Glycogen storage disease, type II [RCV003075406]	likely benign	17	80104673	80104673	Human	1	name
155920480	CV2102373	single nucleotide variant	NM_000152.5(GAA):c.75A>T (p.Ala25=)	Glycogen storage disease, type II [RCV002903332]	likely benign	17	80104661	80104661	Human	1	name
11641376	CV274673	deletion	NM_000152.5(GAA):c.1438-7_1438-5del	Glycogen storage disease, type II [RCV002522027]\|not provided [RCV000726484]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80110718	80110720	Human	1	name
401868192	CV2787343	single nucleotide variant	NM_000152.5(GAA):c.81G>A (p.Leu27=)	Cardiovascular phenotype [RCV003380119]	likely benign	17	80104667	80104667	Human		name
402469286	CV2933619	deletion	NM_000152.5(GAA):c.955+12_955+18del	Glycogen storage disease, type II [RCV003504054]	likely benign	17	80107904	80107910	Human	1	name
405044690	CV2971428	single nucleotide variant	NM_000152.5(GAA):c.30C>T (p.His10=)	Glycogen storage disease, type II [RCV003610069]	likely benign	17	80104616	80104616	Human	1	name
405051307	CV3027516	single nucleotide variant	NM_000152.5(GAA):c.84G>C (p.Gly28=)	Glycogen storage disease, type II [RCV003610543]	likely benign	17	80104670	80104670	Human	1	name
405054055	CV3047563	microsatellite	NM_000152.5(GAA):c.546+20_546+25del	Glycogen storage disease, type II [RCV003610794]	likely benign	17	80105145	80105150	Human		name
405225020	CV3158888	duplication	NM_000152.5(GAA):c.546+12_546+17dup	Glycogen storage disease, type II [RCV003864190]	likely benign	17	80105139	80105140	Human	1	name
405868843	CV3400627	deletion	NM_000152.5(GAA):c.2331+2_2331+3del	Glycogen storage disease, type II [RCV004576630]	likely pathogenic	17	80117110	80117111	Human	1	name
11661006	CV340647	single nucleotide variant	NM_000152.5(GAA):c.54C>T (p.Leu18=)	Glycogen storage disease, type II [RCV000372599]	uncertain significance	17	80104640	80104640	Human	1	name
408393950	CV3526296	single nucleotide variant	NM_000152.5(GAA):c.3G>T (p.Met1Ile)	Glycogen storage disease, type II [RCV004771728]	likely pathogenic	17	80104589	80104589	Human	1	name
11664756	CV354179	deletion	NM_000152.5(GAA):c.1636+460_2672del	Glycogen storage disease, type II [RCV000408768]	pathogenic	17	80111484	80118677	Human	1	name
617152015	CV4022827	deletion	NM_000152.5(GAA):c.1551+3_1551+6del	Glycogen storage disease, type II [RCV005430903]	pathogenic	17	80110841	80110844	Human	1	name
12902105	CV410290	microsatellite	NM_000152.5(GAA):c.858+17_858+23del	Glycogen storage disease, type II [RCV001271973]\|not provided [RCV001591127]\|not specified [RCV001824798]	benign\|likely benign	17	80107728	80107734	Human		name
13467810	CV468475	single nucleotide variant	NM_000152.5(GAA):c.69C>T (p.Thr23=)	GAA-related disorder [RCV003962465]\|Glycogen storage disease, type II [RCV000556024]	likely benign	17	80104655	80104655	Human	1	name , alternate_id
13523633	CV492353	single nucleotide variant	NM_000152.5(GAA):c.5G>C (p.Gly2Ala)	Glycogen storage disease, type II [RCV001854074]\|not provided [RCV000593249]	uncertain significance	17	80104591	80104591	Human	1	name
13613356	CV532010	single nucleotide variant	NM_000152.5(GAA):c.36C>T (p.Leu12=)	Cardiovascular phenotype [RCV002358756]\|Glycogen storage disease, type II [RCV000631115]	likely benign\|conflicting interpretations of pathogenicity	17	80104622	80104622	Human	2	name
13798561	CV551432	single nucleotide variant	NM_000152.5(GAA):c.4G>T (p.Gly2Ter)	Elevated circulating creatine kinase concentration [RCV000678477]\|Glycogen storage disease, type II [RCV001200874]	pathogenic\|likely pathogenic	17	80104590	80104590	Human	4	name
15201207	CV771899	single nucleotide variant	NM_000152.5(GAA):c.96C>G (p.Leu32=)	Glycogen storage disease, type II [RCV001401091]	likely benign	17	80104682	80104682	Human	1	name
15128268	CV785782	single nucleotide variant	NM_000152.5(GAA):c.42C>G (p.Ala14=)	Glycogen storage disease, type II [RCV001408332]	likely benign	17	80104628	80104628	Human	1	name
26908465	CV846379	single nucleotide variant	NM_000152.5(GAA):c.8T>C (p.Val3Ala)	Glycogen storage disease, type II [RCV001038315]	uncertain significance	17	80104594	80104594	Human	1	name
26914705	CV852926	deletion	NM_000152.5(GAA):c.1754+1_1754+7del	Glycogen storage disease, type II [RCV001055165]	pathogenic\|likely pathogenic	17	80112100	80112106	Human	1	name
38462937	CV961110	single nucleotide variant	NM_000152.5(GAA):c.3G>A (p.Met1Ile)	Glycogen storage disease, type II [RCV001249078]	pathogenic\|likely pathogenic	17	80104589	80104589	Human	1	name
40815847	CV970479	microsatellite	NM_000152.5(GAA):c.2189+5_2189+8del	Glycogen storage disease, type II [RCV001261938]	uncertain significance	17	80113365	80113368	Human		name
40887499	CV972896	single nucleotide variant	NM_000152.5(GAA):c.1A>T (p.Met1Leu)	Glycogen storage disease, type II [RCV001265217]	likely pathogenic	17	80104587	80104587	Human	1	name
40887511	CV972897	single nucleotide variant	NM_000152.5(GAA):c.2T>C (p.Met1Thr)	Glycogen storage disease, type II [RCV001265227]	pathogenic\|likely pathogenic	17	80104588	80104588	Human	1	name
126737429	CV1013212	single nucleotide variant	NM_000152.5(GAA):c.26C>T (p.Ser9Phe)	Glycogen storage disease, type II [RCV001313981]	uncertain significance	17	80104612	80104612	Human	1	name
127231649	CV1083678	single nucleotide variant	NM_000152.5(GAA):c.252C>A (p.Val84=)	Glycogen storage disease, type II [RCV001405660]	likely benign	17	80104838	80104838	Human	1	name
127256028	CV1105475	single nucleotide variant	NM_000152.5(GAA):c.204C>T (p.Ala68=)	Glycogen storage disease, type II [RCV001437566]	likely benign	17	80104790	80104790	Human	1	name
127274079	CV1105476	single nucleotide variant	NM_000152.5(GAA):c.264C>T (p.Ser88=)	Glycogen storage disease, type II [RCV001442798]	likely benign	17	80104850	80104850	Human	1	name
127267003	CV1105477	single nucleotide variant	NM_000152.5(GAA):c.276C>T (p.Cys92=)	Cardiovascular phenotype [RCV002439037]\|Glycogen storage disease, type II [RCV001440422]\|not provided [RCV001726555]	likely benign	17	80104862	80104862	Human	2	name
127331628	CV1126863	single nucleotide variant	NM_000152.5(GAA):c.108G>A (p.Leu36=)	Glycogen storage disease, type II [RCV001471699]	likely benign	17	80104694	80104694	Human	1	name
127319025	CV1126864	single nucleotide variant	NM_000152.5(GAA):c.159C>T (p.His53=)	Glycogen storage disease, type II [RCV001466430]	likely benign	17	80104745	80104745	Human	1	name
127292110	CV1147765	single nucleotide variant	NM_000152.5(GAA):c.132C>T (p.Gly44=)	Glycogen storage disease, type II [RCV001496435]	likely benign	17	80104718	80104718	Human	1	name
127335338	CV1147766	single nucleotide variant	NM_000152.5(GAA):c.231A>G (p.Ala77=)	Cardiovascular phenotype [RCV002449295]\|Glycogen storage disease, type II [RCV001491469]\|not provided [RCV001575082]	likely benign	17	80104817	80104817	Human	2	name
150548053	CV1313263	deletion	NM_000152.5(GAA):c.29del (p.His10fs)	not provided [RCV001785857]	pathogenic	17	80104615	80104615	Human		name
151850957	CV1361863	single nucleotide variant	NM_000152.5(GAA):c.144C>T (p.Val48=)	Cardiovascular phenotype [RCV002388904]\|Glycogen storage disease, type II [RCV001978927]	likely benign	17	80104730	80104730	Human	2	name
151885767	CV1418167	single nucleotide variant	NM_000152.5(GAA):c.16C>T (p.Pro6Ser)	Glycogen storage disease, type II [RCV001887422]	uncertain significance	17	80104602	80104602	Human	1	name
152037640	CV1524941	single nucleotide variant	NM_000152.5(GAA):c.255C>G (p.Pro85=)	Cardiovascular phenotype [RCV003303708]\|Glycogen storage disease, type II [RCV002165212]	likely benign	17	80104841	80104841	Human	2	name
152084508	CV1525495	single nucleotide variant	NM_000152.5(GAA):c.108G>T (p.Leu36=)	Glycogen storage disease, type II [RCV002131254]	likely benign	17	80104694	80104694	Human	1	name
152040950	CV1561984	single nucleotide variant	NM_000152.5(GAA):c.126G>C (p.Leu42=)	Glycogen storage disease, type II [RCV002188251]	likely benign	17	80104712	80104712	Human	1	name
152141182	CV1571472	single nucleotide variant	NM_000152.5(GAA):c.138C>G (p.Ser46=)	Glycogen storage disease, type II [RCV002138198]\|not provided [RCV003134392]	likely benign\|uncertain significance	17	80104724	80104724	Human	1	name
152095739	CV1586698	single nucleotide variant	NM_000152.5(GAA):c.267C>T (p.Arg89=)	Glycogen storage disease, type II [RCV002078320]	likely benign	17	80104853	80104853	Human	1	name
152026970	CV1593717	single nucleotide variant	NM_000152.5(GAA):c.135C>T (p.Ser45=)	Glycogen storage disease, type II [RCV002104735]	likely benign	17	80104721	80104721	Human	1	name
152099753	CV1606607	single nucleotide variant	NM_000152.5(GAA):c.180C>G (p.Ala60=)	Glycogen storage disease, type II [RCV002195396]	likely benign	17	80104766	80104766	Human	1	name
152033691	CV1621342	single nucleotide variant	NM_000152.5(GAA):c.156T>A (p.Thr52=)	Glycogen storage disease, type II [RCV002205222]	likely benign	17	80104742	80104742	Human	1	name
152132495	CV1633404	single nucleotide variant	NM_000152.5(GAA):c.207G>A (p.Gln69=)	Glycogen storage disease, type II [RCV002137103]	likely benign	17	80104793	80104793	Human	1	name
152090308	CV1634152	single nucleotide variant	NM_000152.5(GAA):c.147G>A (p.Leu49=)	Glycogen storage disease, type II [RCV002194208]	likely benign	17	80104733	80104733	Human	1	name
152052405	CV1650000	single nucleotide variant	NM_000152.5(GAA):c.198G>A (p.Arg66=)	Glycogen storage disease, type II [RCV002167036]	likely benign	17	80104784	80104784	Human	1	name
152174355	CV1662782	single nucleotide variant	NM_000152.5(GAA):c.234G>T (p.Val78=)	Cardiovascular phenotype [RCV002443248]\|Glycogen storage disease, type II [RCV002163129]	likely benign	17	80104820	80104820	Human	2	name
10041741	CV186552	single nucleotide variant	NM_000152.5(GAA):c.11G>A (p.Arg4Lys)	Glycogen storage disease, type II [RCV000336661]\|not provided [RCV000168657]	uncertain significance	17	80104597	80104597	Human	1	name
156324353	CV1890938	deletion	NM_000152.5(GAA):c.1637-12_1637-9del	Glycogen storage disease, type II [RCV003089385]	uncertain significance	17	80111969	80111972	Human	1	name
156219494	CV1924796	single nucleotide variant	NM_000152.5(GAA):c.117C>T (p.Pro39=)	Cardiovascular phenotype [RCV004072075]\|Glycogen storage disease, type II [RCV002644345]	likely benign	17	80104703	80104703	Human	2	name
156409191	CV1954691	single nucleotide variant	NM_000152.5(GAA):c.237C>T (p.Pro79=)	Glycogen storage disease, type II [RCV002586746]	likely benign	17	80104823	80104823	Human	1	name
156228660	CV2176611	single nucleotide variant	NM_000152.5(GAA):c.282T>C (p.Pro94=)	Glycogen storage disease, type II [RCV003059219]	likely benign	17	80104868	80104868	Human	1	name
156106960	CV2181053	single nucleotide variant	NM_000152.5(GAA):c.258C>G (p.Pro86=)	Glycogen storage disease, type II [RCV003054937]	likely benign	17	80104844	80104844	Human	1	name
11640441	CV266375	single nucleotide variant	NM_000152.5(GAA):c.258C>A (p.Pro86=)	Cardiovascular phenotype [RCV004992145]\|Glycogen storage disease, type II [RCV001001756]\|not provided [RCV000590222]\|not specified [RCV000338982]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80104844	80104844	Human	2	name
11640858	CV267873	single nucleotide variant	NM_000152.5(GAA):c.25T>C (p.Ser9Pro)	not provided [RCV000345427]	uncertain significance	17	80104611	80104611	Human		name
11641937	CV274508	single nucleotide variant	NM_000152.5(GAA):c.249C>T (p.Asp83=)	Cardiovascular phenotype [RCV005338132]\|Glycogen storage disease, type II [RCV001078799]\|not provided [RCV000364811]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80104835	80104835	Human	2	name
401899009	CV2785940	single nucleotide variant	NM_000152.5(GAA):c.144C>A (p.Val48=)	Cardiovascular phenotype [RCV003377169]	likely benign	17	80104730	80104730	Human		name
401941281	CV2835911	duplication	NM_000152.5(GAA):c.84dup (p.His29fs)	Glycogen storage disease, type II [RCV003461621]	likely pathogenic	17	80104666	80104667	Human	1	name
405131553	CV2900274	single nucleotide variant	NM_000152.5(GAA):c.189A>C (p.Pro63=)	Glycogen storage disease, type II [RCV003502192]	likely benign	17	80104775	80104775	Human	1	name
405031517	CV3009399	single nucleotide variant	NM_000152.5(GAA):c.213C>T (p.His71=)	Glycogen storage disease, type II [RCV003608905]	likely benign	17	80104799	80104799	Human	1	name
405251510	CV3181347	single nucleotide variant	NM_000152.5(GAA):c.105C>T (p.Phe35=)	Glycogen storage disease, type II [RCV003870349]	likely benign	17	80104691	80104691	Human	1	name
12837139	CV375739	single nucleotide variant	NM_000152.5(GAA):c.297C>G (p.Thr99=)	Glycogen storage disease, type II [RCV003502527]\|not specified [RCV000424655]	likely benign	17	80104883	80104883	Human	1	name
597964571	CV3792499	single nucleotide variant	NM_000152.5(GAA):c.189A>G (p.Pro63=)	Glycogen storage disease, type II [RCV005139866]	likely benign	17	80104775	80104775	Human	1	name
597867315	CV3858148	single nucleotide variant	NM_000152.5(GAA):c.288G>A (p.Lys96=)	Glycogen storage disease, type II [RCV005196891]	likely benign	17	80104874	80104874	Human	1	name
598127187	CV3888059	single nucleotide variant	NM_000152.5(GAA):c.186A>G (p.Arg62=)	not provided [RCV005242745]	likely benign	17	80104772	80104772	Human		name
13464568	CV468487	single nucleotide variant	NM_000152.5(GAA):c.183C>T (p.Ser61=)	Cardiovascular phenotype [RCV004619318]\|Glycogen storage disease, type II [RCV000542895]	likely benign	17	80104769	80104769	Human	2	name
13466893	CV469231	single nucleotide variant	NM_000152.5(GAA):c.270C>T (p.Phe90=)	Cardiovascular phenotype [RCV002431532]\|Glycogen storage disease, type II [RCV000552970]	likely benign	17	80104856	80104856	Human	2	name
13518729	CV489548	single nucleotide variant	NM_000152.5(GAA):c.297C>T (p.Thr99=)	Glycogen storage disease, type II [RCV001087805]\|not provided [RCV000597595]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80104883	80104883	Human	1	name
13523096	CV491098	single nucleotide variant	NM_000152.5(GAA):c.17C>T (p.Pro6Leu)	Glycogen storage disease, type II [RCV000694708]\|not provided [RCV000592568]	uncertain significance	17	80104603	80104603	Human	1	name
13540604	CV507196	single nucleotide variant	NM_000152.5(GAA):c.108G>C (p.Leu36=)	Glycogen storage disease, type II [RCV002529717]\|not specified [RCV000614933]	likely benign	17	80104694	80104694	Human	1	name
13613346	CV532021	single nucleotide variant	NM_000152.5(GAA):c.216C>T (p.Pro72=)	Glycogen storage disease, type II [RCV001089244]\|not provided [RCV000728964]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80104802	80104802	Human	1	name
13784363	CV548768	deletion	NM_000152.5(GAA):c.55del (p.Val19fs)	Glycogen storage disease, type II [RCV000670780]	likely pathogenic	17	80104641	80104641	Human	1	name
13808483	CV571726	deletion	NM_000152.5(GAA):c.1552-14_1552-1del	Glycogen storage disease, type II [RCV000701657]	uncertain significance	17	80110923	80110936	Human	1	name
13838063	CV589357	deletion	NM_000152.5(GAA):c.1438-15_1438-1del	Glycogen storage disease, type II [RCV002067172]\|not provided [RCV000734655]	likely benign\|uncertain significance	17	80110709	80110723	Human	1	name
14741202	CV646860	single nucleotide variant	NM_000152.5(GAA):c.17C>A (p.Pro6Gln)	Glycogen storage disease, type II [RCV000805680]	uncertain significance	17	80104603	80104603	Human	1	name
15137352	CV741106	single nucleotide variant	NM_000152.5(GAA):c.252C>T (p.Val84=)	Cardiovascular phenotype [RCV002427254]\|Glycogen storage disease, type II [RCV000898789]	likely benign	17	80104838	80104838	Human	2	name
15111409	CV756200	single nucleotide variant	NM_000152.5(GAA):c.240A>G (p.Thr80=)	GAA-related disorder [RCV003970438]\|Glycogen storage disease, type II [RCV000916725]	likely benign	17	80104826	80104826	Human	1	name , alternate_id
15182959	CV771900	single nucleotide variant	NM_000152.5(GAA):c.246C>T (p.Cys82=)	Cardiovascular phenotype [RCV002454113]\|Glycogen storage disease, type II [RCV001424358]	likely benign	17	80104832	80104832	Human	2	name
15110117	CV785783	single nucleotide variant	NM_000152.5(GAA):c.138C>T (p.Ser46=)	Glycogen storage disease, type II [RCV000977371]	likely benign	17	80104724	80104724	Human	1	name
21075675	CV797615	single nucleotide variant	NM_000152.5(GAA):c.26C>G (p.Ser9Cys)	not provided [RCV000996615]	uncertain significance	17	80104612	80104612	Human		name
38475080	CV960252	deletion	NM_000152.5(GAA):c.1888+6_1888+14del	Glycogen storage disease, type II [RCV001232467]	uncertain significance	17	80112717	80112725	Human	1	name
8659623	CV134567	single nucleotide variant	NM_000152.5(GAA):c.447G>A (p.Thr149=)	Cardiovascular phenotype [RCV002326815]\|Glycogen storage disease, type II [RCV000402346]\|not provided [RCV001573616]\|not specified [RCV000117107]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80105033	80105033	Human	2	name
152130249	CV1544191	single nucleotide variant	NM_000152.5(GAA):c.639C>T (p.Phe213=)	Glycogen storage disease, type II [RCV002176705]	likely benign	17	80105841	80105841	Human	1	name
152109721	CV1551008	single nucleotide variant	NM_000152.5(GAA):c.651C>A (p.Pro217=)	Glycogen storage disease, type II [RCV002152886]	likely benign	17	80105853	80105853	Human	1	name
152136308	CV1580243	single nucleotide variant	NM_000152.5(GAA):c.633G>A (p.Val211=)	Glycogen storage disease, type II [RCV002156184]	likely benign	17	80105835	80105835	Human	1	name
152127652	CV1581158	single nucleotide variant	NM_000152.5(GAA):c.618C>A (p.Ser206=)	Glycogen storage disease, type II [RCV002099044]	likely benign	17	80105820	80105820	Human	1	name
152126638	CV1582375	single nucleotide variant	NM_000152.5(GAA):c.609G>A (p.Arg203=)	Cardiovascular phenotype [RCV004617009]\|Glycogen storage disease, type II [RCV002198764]	likely benign	17	80105811	80105811	Human	2	name
152126747	CV1582390	single nucleotide variant	NM_000152.5(GAA):c.867G>T (p.Ala289=)	Glycogen storage disease, type II [RCV002198779]	likely benign	17	80107808	80107808	Human	1	name
152123518	CV1587263	inversion	NM_000152.5(GAA):c.1327-19_1327-18inv	Glycogen storage disease, type II [RCV002136017]	likely benign	17	80109926	80109927	Human		name
152122825	CV1594034	single nucleotide variant	NM_000152.5(GAA):c.936G>A (p.Leu312=)	Glycogen storage disease, type II [RCV002175806]	likely benign	17	80107877	80107877	Human	1	name
152162950	CV1600671	single nucleotide variant	NM_000152.5(GAA):c.421C>T (p.Leu141=)	Glycogen storage disease, type II [RCV002141240]	likely benign	17	80105007	80105007	Human	1	name
152148809	CV1616622	single nucleotide variant	NM_000152.5(GAA):c.642C>A (p.Ser214=)	Glycogen storage disease, type II [RCV002201646]	likely benign	17	80105844	80105844	Human	1	name
152176239	CV1628584	single nucleotide variant	NM_000152.5(GAA):c.579G>A (p.Val193=)	Glycogen storage disease, type II [RCV002164381]	likely benign	17	80105781	80105781	Human	1	name
152115154	CV1640983	single nucleotide variant	NM_000152.5(GAA):c.930G>A (p.Val310=)	Glycogen storage disease, type II [RCV002117081]	likely benign	17	80107871	80107871	Human	1	name
152168035	CV1644982	single nucleotide variant	NM_000152.5(GAA):c.459C>G (p.Thr153=)	Glycogen storage disease, type II [RCV002142312]	likely benign	17	80105045	80105045	Human	1	name
152107159	CV1657255	single nucleotide variant	NM_000152.5(GAA):c.468C>G (p.Thr156=)	Glycogen storage disease, type II [RCV002214972]	likely benign	17	80105054	80105054	Human	1	name
152173429	CV1662615	single nucleotide variant	NM_000152.5(GAA):c.501G>A (p.Leu167=)	Glycogen storage disease, type II [RCV002144101]	likely benign	17	80105087	80105087	Human	1	name
155749044	CV1779108	single nucleotide variant	NM_000152.5(GAA):c.52C>T (p.Leu18Phe)	Glycogen storage disease, type II [RCV002304196]	uncertain significance	17	80104638	80104638	Human	1	name
155717412	CV1792262	single nucleotide variant	NM_000152.5(GAA):c.330C>T (p.Tyr110=)	Cardiovascular phenotype [RCV002326286]\|Glycogen storage disease, type II [RCV003609206]	likely benign	17	80104916	80104916	Human	2	name
155742119	CV1802654	single nucleotide variant	NM_000152.5(GAA):c.513G>C (p.Val171=)	Cardiovascular phenotype [RCV002344249]\|Glycogen storage disease, type II [RCV003096629]	likely benign	17	80105099	80105099	Human	2	name
155709925	CV1805728	single nucleotide variant	NM_000152.5(GAA):c.502C>A (p.Arg168=)	Cardiovascular phenotype [RCV002335611]\|Glycogen storage disease, type II [RCV003096574]	likely benign	17	80105088	80105088	Human	2	name
155801579	CV1866757	indel	NM_000152.5(GAA):c.187_203delinsGGG	not provided [RCV002505969]	uncertain significance	17	80119518	80119534	Human		name
156278179	CV1876896	single nucleotide variant	NM_000152.5(GAA):c.58T>A (p.Ser20Thr)	Glycogen storage disease, type II [RCV003060969]	uncertain significance	17	80104644	80104644	Human	1	name
156091240	CV1895558	single nucleotide variant	NM_000152.5(GAA):c.561T>A (p.Ala187=)	Glycogen storage disease, type II [RCV003080225]	likely benign	17	80105763	80105763	Human	1	name
155939775	CV1913514	single nucleotide variant	NM_000152.5(GAA):c.711G>C (p.Ala237=)	Glycogen storage disease, type II [RCV002615552]	likely benign	17	80107575	80107575	Human	1	name
156188478	CV1915612	deletion	NM_000152.5(GAA):c.2189+10_2189+11del	Glycogen storage disease, type II [RCV002595293]	likely benign	17	80113376	80113377	Human	1	name
156352701	CV1923660	single nucleotide variant	NM_000152.5(GAA):c.666G>A (p.Val222=)	Glycogen storage disease, type II [RCV002651016]	likely benign	17	80105868	80105868	Human	1	name
156445273	CV1945273	single nucleotide variant	NM_000152.5(GAA):c.756G>A (p.Leu252=)	Glycogen storage disease, type II [RCV003116213]	likely benign	17	80107620	80107620	Human	1	name
156415633	CV1955446	single nucleotide variant	NM_000152.5(GAA):c.897G>C (p.Leu299=)	Glycogen storage disease, type II [RCV002589276]	likely benign	17	80107838	80107838	Human	1	name
156412732	CV1968796	single nucleotide variant	NM_000152.5(GAA):c.934C>T (p.Leu312=)	Glycogen storage disease, type II [RCV002608625]	likely benign	17	80107875	80107875	Human	1	name
156006653	CV1984568	single nucleotide variant	NM_000152.5(GAA):c.894C>T (p.Tyr298=)	Glycogen storage disease, type II [RCV002618700]	likely benign	17	80107835	80107835	Human	1	name
156012686	CV1986061	single nucleotide variant	NM_000152.5(GAA):c.609G>T (p.Arg203=)	Glycogen storage disease, type II [RCV002636305]	likely benign	17	80105811	80105811	Human	1	name
156387170	CV1986717	single nucleotide variant	NM_000152.5(GAA):c.861C>G (p.Pro287=)	Glycogen storage disease, type II [RCV002634689]	likely benign	17	80107802	80107802	Human	1	name
156016482	CV1993302	single nucleotide variant	NM_000152.5(GAA):c.792C>T (p.Leu264=)	Cardiovascular phenotype [RCV004990819]\|Glycogen storage disease, type II [RCV002636491]	likely benign	17	80107656	80107656	Human	2	name
156316338	CV2028071	single nucleotide variant	NM_000152.5(GAA):c.777C>G (p.Gly259=)	Glycogen storage disease, type II [RCV002716821]	likely benign	17	80107641	80107641	Human	1	name
156286977	CV2061953	single nucleotide variant	NM_000152.5(GAA):c.423G>A (p.Leu141=)	Glycogen storage disease, type II [RCV002833044]	likely benign	17	80105009	80105009	Human	1	name
156200458	CV2062918	single nucleotide variant	NM_000152.5(GAA):c.552A>G (p.Lys184=)	Glycogen storage disease, type II [RCV002828919]	likely benign	17	80105754	80105754	Human	1	name
156011377	CV2075627	single nucleotide variant	NM_000152.5(GAA):c.333C>T (p.Ile111=)	Glycogen storage disease, type II [RCV002843892]	likely benign	17	80104919	80104919	Human	1	name
156024746	CV2079491	single nucleotide variant	NM_000152.5(GAA):c.414G>A (p.Leu138=)	Glycogen storage disease, type II [RCV002885124]	likely benign	17	80105000	80105000	Human	1	name
155958163	CV2087132	single nucleotide variant	NM_000152.5(GAA):c.841C>A (p.Arg281=)	Glycogen storage disease, type II [RCV002862721]	likely benign	17	80107705	80107705	Human	1	name
156129311	CV2100787	single nucleotide variant	NM_000152.5(GAA):c.399C>T (p.Tyr133=)	Glycogen storage disease, type II [RCV002889881]	likely benign	17	80104985	80104985	Human	1	name
156240027	CV2154816	single nucleotide variant	NM_000152.5(GAA):c.567G>A (p.Arg189=)	Glycogen storage disease, type II [RCV003025971]	likely benign	17	80105769	80105769	Human	1	name
156167891	CV2169736	single nucleotide variant	NM_000152.5(GAA):c.621A>C (p.Pro207=)	Glycogen storage disease, type II [RCV003023424]	likely benign	17	80105823	80105823	Human	1	name
156215609	CV2176603	single nucleotide variant	NM_000152.5(GAA):c.717G>T (p.Leu239=)	Glycogen storage disease, type II [RCV003024985]	likely benign	17	80107581	80107581	Human	1	name
156170111	CV2184966	single nucleotide variant	NM_000152.5(GAA):c.786G>A (p.Glu262=)	Glycogen storage disease, type II [RCV003057194]	likely benign	17	80107650	80107650	Human	1	name
156047945	CV2186559	single nucleotide variant	NM_000152.5(GAA):c.522G>A (p.Glu174=)	Glycogen storage disease, type II [RCV003036808]	likely benign	17	80105108	80105108	Human	1	name
329955165	CV2671106	single nucleotide variant	NM_000152.5(GAA):c.693G>T (p.Leu231=)	not specified [RCV003236378]	uncertain significance	17	80107557	80107557	Human		name
401941279	CV2835906	deletion	NM_000152.5(GAA):c.133del (p.Ser45fs)	Glycogen storage disease, type II [RCV003461619]	likely pathogenic	17	80104719	80104719	Human	1	name
402467401	CV2862950	single nucleotide variant	NM_000152.5(GAA):c.678G>T (p.Leu226=)	Glycogen storage disease, type II [RCV003503535]	likely benign	17	80105880	80105880	Human	1	name
402467193	CV2865922	deletion	NM_000152.5(GAA):c.2647-25_2647-18del	Glycogen storage disease, type II [RCV003503481]	likely benign	17	80118626	80118633	Human	1	name
402468024	CV2868138	single nucleotide variant	NM_000152.5(GAA):c.742C>T (p.Leu248=)	Cardiovascular phenotype [RCV004621813]\|Glycogen storage disease, type II [RCV003503735]	likely benign	17	80107606	80107606	Human	2	name
402469874	CV2882099	single nucleotide variant	NM_000152.5(GAA):c.723T>C (p.Phe241=)	Glycogen storage disease, type II [RCV003504240]	likely benign	17	80107587	80107587	Human	1	name
402469691	CV2884924	single nucleotide variant	NM_000152.5(GAA):c.822C>T (p.Thr274=)	Glycogen storage disease, type II [RCV003504164]	likely benign	17	80107686	80107686	Human	1	name
405131221	CV2906220	single nucleotide variant	NM_000152.5(GAA):c.480C>T (p.Phe160=)	Glycogen storage disease, type II [RCV003502158]	likely benign	17	80105066	80105066	Human	1	name
402465476	CV2919888	duplication	NM_000152.5(GAA):c.1437+16_1437+22dup	Glycogen storage disease, type II [RCV003503017]	likely benign	17	80110069	80110070	Human	1	name
402469186	CV2927899	single nucleotide variant	NM_000152.5(GAA):c.741G>A (p.Gln247=)	Glycogen storage disease, type II [RCV003504026]	likely benign	17	80107605	80107605	Human	1	name
402466352	CV2931154	single nucleotide variant	NM_000152.5(GAA):c.504G>T (p.Arg168=)	Glycogen storage disease, type II [RCV003503276]	likely benign	17	80105090	80105090	Human	1	name
402469283	CV2933618	single nucleotide variant	NM_000152.5(GAA):c.499C>T (p.Leu167=)	Glycogen storage disease, type II [RCV003504053]	likely benign	17	80105085	80105085	Human	1	name
405037071	CV2941370	single nucleotide variant	NM_000152.5(GAA):c.807C>G (p.Leu269=)	Glycogen storage disease, type II [RCV003609411]	likely benign	17	80107671	80107671	Human	1	name
405038757	CV2951114	single nucleotide variant	NM_000152.5(GAA):c.411G>A (p.Lys137=)	Glycogen storage disease, type II [RCV003609559]	likely benign	17	80104997	80104997	Human	1	name
405039585	CV2959759	single nucleotide variant	NM_000152.5(GAA):c.684C>T (p.Gly228=)	Glycogen storage disease, type II [RCV003609629]	likely benign	17	80105886	80105886	Human	1	name
405039059	CV2961758	single nucleotide variant	NM_000152.5(GAA):c.915G>T (p.Gly305=)	Glycogen storage disease, type II [RCV003609584]	likely benign	17	80107856	80107856	Human	1	name
405043868	CV2963117	single nucleotide variant	NM_000152.5(GAA):c.612A>G (p.Ala204=)	Glycogen storage disease, type II [RCV003610010]	likely benign	17	80105814	80105814	Human	1	name
405046597	CV2970163	single nucleotide variant	NM_000152.5(GAA):c.870C>T (p.Asn290=)	Glycogen storage disease, type II [RCV003610210]	likely benign	17	80107811	80107811	Human	1	name
405046086	CV2973103	single nucleotide variant	NM_000152.5(GAA):c.777C>T (p.Gly259=)	Glycogen storage disease, type II [RCV003610171]	likely benign	17	80107641	80107641	Human	1	name
405046102	CV2973130	single nucleotide variant	NM_000152.5(GAA):c.900G>C (p.Ala300=)	Glycogen storage disease, type II [RCV003610172]	likely benign	17	80107841	80107841	Human	1	name
405049926	CV2980333	single nucleotide variant	NM_000152.5(GAA):c.357A>C (p.Gly119=)	Glycogen storage disease, type II [RCV003610437]	likely benign	17	80104943	80104943	Human	1	name
405029401	CV2992540	single nucleotide variant	NM_000152.5(GAA):c.747C>G (p.Ser249=)	Glycogen storage disease, type II [RCV003608729]	likely benign	17	80107611	80107611	Human	1	name
405031096	CV3012195	single nucleotide variant	NM_000152.5(GAA):c.729C>T (p.Asp243=)	Glycogen storage disease, type II [RCV003608869]	likely benign	17	80107593	80107593	Human	1	name
405052408	CV3032995	single nucleotide variant	NM_000152.5(GAA):c.354G>A (p.Gln118=)	Glycogen storage disease, type II [RCV003610631]	likely benign	17	80104940	80104940	Human	1	name
405056220	CV3067590	single nucleotide variant	NM_000152.5(GAA):c.498C>T (p.Thr166=)	Glycogen storage disease, type II [RCV003610956]	likely benign	17	80105084	80105084	Human	1	name
405043794	CV3075271	deletion	NM_000152.5(GAA):c.242del (p.Gln81fs)	Glycogen storage disease, type II [RCV003609981]	pathogenic	17	80104828	80104828	Human	1	name
405041761	CV3079204	single nucleotide variant	NM_000152.5(GAA):c.714C>A (p.Pro238=)	Glycogen storage disease, type II [RCV003609826]	likely benign	17	80107578	80107578	Human	1	name
405112795	CV3133653	single nucleotide variant	NM_000152.5(GAA):c.29A>T (p.His10Leu)	Glycogen storage disease, type II [RCV003836446]	uncertain significance	17	80104615	80104615	Human	1	name
402475138	CV3172701	single nucleotide variant	NM_000152.5(GAA):c.318C>A (p.Arg106=)	Glycogen storage disease, type II [RCV003875119]	likely benign	17	80104904	80104904	Human	1	name
402479268	CV3174409	single nucleotide variant	NM_000152.5(GAA):c.381C>T (p.Cys127=)	Glycogen storage disease, type II [RCV003875756]	likely benign	17	80104967	80104967	Human	1	name
405277884	CV3202761	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCG	GAA-related disorder [RCV003904748]	likely benign	17	80107729	80107730	Human		name , trait , alternate_id
405698905	CV3382320	single nucleotide variant	NM_000152.5(GAA):c.493C>T (p.Leu165=)	Cardiovascular phenotype [RCV004520627]	likely benign	17	80105079	80105079	Human		name
407485863	CV3439523	single nucleotide variant	NM_000152.5(GAA):c.963C>T (p.Val321=)	Cardiovascular phenotype [RCV004618992]	likely benign	17	80108297	80108297	Human		name
597716883	CV3677090	single nucleotide variant	NM_000152.5(GAA):c.468C>A (p.Thr156=)	Cardiovascular phenotype [RCV004991507]	likely benign	17	80105054	80105054	Human		name
597882587	CV3763974	single nucleotide variant	NM_000152.5(GAA):c.73G>A (p.Ala25Thr)	Glycogen storage disease, type II [RCV005109375]	uncertain significance	17	80104659	80104659	Human	1	name
597892864	CV3785390	single nucleotide variant	NM_000152.5(GAA):c.901C>T (p.Leu301=)	Glycogen storage disease, type II [RCV005125976]	likely benign	17	80107842	80107842	Human	1	name
597940465	CV3788989	single nucleotide variant	NM_000152.5(GAA):c.810C>T (p.Ser270=)	Glycogen storage disease, type II [RCV005133452]	likely benign	17	80107674	80107674	Human	1	name
597939237	CV3818598	single nucleotide variant	NM_000152.5(GAA):c.465C>T (p.Thr155=)	Glycogen storage disease, type II [RCV005158604]	likely benign	17	80105051	80105051	Human	1	name
597858231	CV3822368	deletion	NM_000152.5(GAA):c.1194+19_1194+20del	Glycogen storage disease, type II [RCV005174666]	likely benign	17	80108626	80108627	Human	1	name
597930191	CV3826929	single nucleotide variant	NM_000152.5(GAA):c.831C>T (p.Thr277=)	Glycogen storage disease, type II [RCV005156942]	likely benign	17	80107695	80107695	Human	1	name
597842755	CV3831082	single nucleotide variant	NM_000152.5(GAA):c.483C>T (p.Pro161=)	Glycogen storage disease, type II [RCV005172463]	likely benign	17	80105069	80105069	Human	1	name
597930560	CV3862341	single nucleotide variant	NM_000152.5(GAA):c.83G>A (p.Gly28Glu)	Glycogen storage disease, type II [RCV005206585]	uncertain significance	17	80104669	80104669	Human	1	name
15129410	CV694215	single nucleotide variant	NM_000152.5(GAA):c.924C>T (p.His308=)	Glycogen storage disease, type II [RCV001502256]	likely benign	17	80107865	80107865	Human	1	name
15128437	CV756201	single nucleotide variant	NM_000152.5(GAA):c.999A>G (p.Thr333=)	Glycogen storage disease, type II [RCV001492310]	likely benign	17	80108333	80108333	Human	1	name
15147530	CV771901	single nucleotide variant	NM_000152.5(GAA):c.966G>A (p.Leu322=)	Glycogen storage disease, type II [RCV001432412]	likely benign	17	80108300	80108300	Human	1	name
15124288	CV785784	single nucleotide variant	NM_000152.5(GAA):c.654C>T (p.Phe218=)	Cardiovascular phenotype [RCV002363503]\|Glycogen storage disease, type II [RCV000979980]	likely benign	17	80105856	80105856	Human	2	name
15126741	CV785786	single nucleotide variant	NM_000152.5(GAA):c.765G>A (p.Gln255=)	Glycogen storage disease, type II [RCV001404279]	likely benign	17	80107629	80107629	Human	1	name
15116807	CV785787	single nucleotide variant	NM_000152.5(GAA):c.798C>G (p.Pro266=)	Glycogen storage disease, type II [RCV001460073]	likely benign	17	80107662	80107662	Human	1	name
26884588	CV846380	single nucleotide variant	NM_000152.5(GAA):c.68C>T (p.Thr23Ile)	Glycogen storage disease, type II [RCV001064957]	uncertain significance	17	80104654	80104654	Human	1	name
28902701	CV878747	single nucleotide variant	NM_000152.5(GAA):c.630C>T (p.Ser210=)	Cardiovascular phenotype [RCV003293891]\|Glycogen storage disease, type II [RCV001125316]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80105832	80105832	Human	2	name
38495040	CV958358	single nucleotide variant	NM_000152.5(GAA):c.912C>T (p.Gly304=)	Cardiovascular phenotype [RCV002375278]\|Glycogen storage disease, type II [RCV001241695]\|not provided [RCV001796864]	likely benign\|uncertain significance	17	80107853	80107853	Human	2	name
8639409	CV98393	single nucleotide variant	NM_000152.5(GAA):c.324T>C (p.Cys108=)	Cardiovascular phenotype [RCV002321569]\|Glycogen storage disease, type II [RCV000284275]\|Primary ciliary dyskinesia [RCV000299885]\|not provided [RCV000587169]\|not specified [RCV000078180]	benign	17	80104910	80104910	Human	3	name
8639412	CV98396	single nucleotide variant	NM_000152.5(GAA):c.642C>T (p.Ser214=)	Cardiovascular phenotype [RCV002362722]\|Glycogen storage disease, type II [RCV000330247]\|not provided [RCV000586465]\|not specified [RCV000078184]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80105844	80105844	Human	2	name
8639415	CV98399	single nucleotide variant	NM_000152.5(GAA):c.921A>T (p.Ala307=)	Cardiovascular phenotype [RCV002371924]\|Glycogen storage disease, type II [RCV000376333]\|not provided [RCV000675223]\|not specified [RCV000078187]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80107862	80107862	Human	2	name
127306105	CV1147801	single nucleotide variant	NM_000152.5(GAA):c.2553G>C (p.Gly851=)	Cardiovascular phenotype [RCV002456904]\|GAA-related disorder [RCV003900726]\|Glycogen storage disease, type II [RCV001500106]	likely benign	17	80118264	80118264	Human	2	alternate_id
152170634	CV1578299	single nucleotide variant	NM_000152.5(GAA):c.2844C>T (p.Leu948=)	GAA-related disorder [RCV003970986]\|Glycogen storage disease, type II [RCV002183222]\|not provided [RCV005242181]	likely benign	17	80119316	80119316	Human	1	alternate_id
155685350	CV1847910	single nucleotide variant	NM_000152.5(GAA):c.2336C>A (p.Pro779Gln)	Cardiovascular phenotype [RCV002457656]\|GAA-related disorder [RCV004750744]\|Glycogen storage disease, type II [RCV005098084]	uncertain significance	17	80117604	80117604	Human	2	alternate_id
10041742	CV186553	single nucleotide variant	NM_000152.5(GAA):c.676C>G (p.Leu226Val)	Cardiovascular phenotype [RCV004020009]\|GAA-related disorder [RCV003907529]\|Glycogen storage disease, type II [RCV001000493]\|Ventricular fibrillation [RCV000852728]\|not provided [RCV001721094]\|not specified [RCV000168658]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80105878	80105878	Human	4	alternate_id
10042497	CV186993	single nucleotide variant	NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	GAA-related disorder [RCV004751318]\|Glycogen storage disease, type II [RCV000169462]\|not provided [RCV000481943]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	80105857	80105857	Human	1	alternate_id
10042506	CV186994	single nucleotide variant	NM_000152.5(GAA):c.670C>T (p.Arg224Trp)	GAA-related disorder [RCV004751320]\|Glycogen storage disease, type II [RCV000169620]\|not provided [RCV000272542]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	80105872	80105872	Human	1	alternate_id
10042474	CV187002	deletion	NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)	GAA-related disorder [RCV004751315]\|Glycogen storage disease, type II [RCV000169228]\|not provided [RCV001781522]	pathogenic\|likely pathogenic	17	80110029	80110032	Human	1	alternate_id
10042490	CV187005	single nucleotide variant	NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	GAA-related disorder [RCV004751317]\|Glycogen storage disease, type II [RCV000169414]\|not provided [RCV000723388]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	80110837	80110837	Human	1	alternate_id
10042504	CV187013	single nucleotide variant	NM_000152.5(GAA):c.1979G>A (p.Arg660His)	GAA-related disorder [RCV003895169]\|Glycogen storage disease, type II [RCV000169600]\|not provided [RCV000256037]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	80112966	80112966	Human	1	alternate_id
8596262	CV19068	single nucleotide variant	NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)	Cardiovascular phenotype [RCV004018551]\|GAA-related disorder [RCV004751197]\|Glycogen storage disease type II, infantile [RCV000004244]\|Glycogen storage disease, type II [RCV000055768]\|not provided [RCV001785448]	pathogenic	17	80112922	80112922	Human	3	alternate_id
8596267	CV19073	single nucleotide variant	NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	Cardiovascular phenotype [RCV004991965]\|GAA-related disorder [RCV003904805]\|Glycogen storage disease, type II [RCV000004249]\|not provided [RCV000255539]	pathogenic\|likely pathogenic	17	80118271	80118271	Human	2	alternate_id
8596268	CV19074	single nucleotide variant	NM_000152.5(GAA):c.710C>T (p.Ala237Val)	GAA-related disorder [RCV004751198]\|GLYCOGEN STORAGE DISEASE II, ADULT FORM [RCV000004250]\|Glycogen storage disease, type II [RCV000664615]\|not provided [RCV003329226]\|not specified [RCV002265547]	pathogenic\|uncertain significance	17	80107574	80107574	Human	1	alternate_id
10050233	CV191621	single nucleotide variant	NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)	Cardiovascular phenotype [RCV005328220]\|GAA-related disorder [RCV004751332]\|Glycogen storage disease, type II [RCV000540247]\|not provided [RCV000657136]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80113333	80113333	Human	2	alternate_id
10050611	CV192181	single nucleotide variant	NM_000152.5(GAA):c.318C>T (p.Arg106=)	Cardiovascular phenotype [RCV002321692]\|GAA-related disorder [RCV003955041]\|Glycogen storage disease, type II [RCV001248965]\|not provided [RCV000724466]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80104904	80104904	Human	2	alternate_id
11559794	CV260196	single nucleotide variant	NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	Cardiovascular phenotype [RCV004021024]\|GAA-related disorder [RCV003920023]\|Glycogen storage disease [RCV000825562]\|Glycogen storage disease, type II [RCV000283919]\|not provided [RCV000254988]	pathogenic\|likely pathogenic	17	80117016	80117016	Human	3	alternate_id
11578750	CV265030	single nucleotide variant	NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)	GAA-related disorder [RCV004751411]\|Glycogen storage disease, type II [RCV000381512]\|not provided [RCV000288533]	pathogenic	17	80112001	80112001	Human	1	alternate_id
11662370	CV265192	single nucleotide variant	NM_000152.5(GAA):c.546G>A (p.Thr182=)	GAA-related disorder [RCV004751413]\|Glycogen storage disease [RCV004017580]\|Glycogen storage disease, type II [RCV000385549]\|not provided [RCV000723387]	pathogenic\|likely pathogenic	17	80105132	80105132	Human	2	alternate_id
11642248	CV265567	single nucleotide variant	NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)	Cardiovascular phenotype [RCV004992143]\|GAA-related disorder [RCV003939937]\|Glycogen storage disease, type II [RCV000546554]\|not provided [RCV001576441]\|not specified [RCV000370406]	likely benign\|uncertain significance	17	80109970	80109970	Human	2	alternate_id
11636878	CV266625	single nucleotide variant	NM_000152.5(GAA):c.2391C>T (p.Ala797=)	Cardiovascular phenotype [RCV003165725]\|GAA-related disorder [RCV003982981]\|Glycogen storage disease, type II [RCV001393526]\|not provided [RCV000276337]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80117659	80117659	Human	2	alternate_id
11650174	CV267079	duplication	NM_000152.5(GAA):c.258dup (p.Asn87fs)	GAA-related disorder [RCV004751421]\|Glycogen storage disease, type II [RCV000291526]\|not provided [RCV000790707]	pathogenic	17	80104837	80104838	Human	1	alternate_id
11638155	CV267732	single nucleotide variant	NM_000152.5(GAA):c.368G>A (p.Gly123Glu)	GAA-related disorder [RCV004751423]\|Glycogen storage disease, type II [RCV000540426]\|Primary dilated cardiomyopathy [RCV000852727]\|not provided [RCV001697646]\|not specified [RCV000298334]	benign\|likely benign	17	80104954	80104954	Human	2	alternate_id
11641362	CV267733	single nucleotide variant	NM_000152.5(GAA):c.351G>A (p.Leu117=)	Cardiovascular phenotype [RCV002450806]\|GAA-related disorder [RCV004751424]\|Glycogen storage disease, type II [RCV000540488]\|not provided [RCV001697647]\|not specified [RCV000355526]	benign\|likely benign	17	80104937	80104937	Human	2	alternate_id
11641576	CV267735	single nucleotide variant	NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)	Cardiovascular phenotype [RCV004619241]\|GAA-related disorder [RCV004751425]\|Glycogen storage disease, type II [RCV000531819]\|Primary dilated cardiomyopathy [RCV000852732]\|not specified [RCV000359113]	benign\|likely benign	17	80109961	80109961	Human	3	alternate_id
11639366	CV268131	single nucleotide variant	NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	GAA-related disorder [RCV004751427]\|Glycogen storage disease, type II [RCV000535428]\|not provided [RCV000319725]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	80107705	80107705	Human	1	alternate_id
11641865	CV270058	single nucleotide variant	NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)	GAA-related disorder [RCV003391044]\|Glycogen storage disease, type II [RCV000264524]\|not provided [RCV000364773]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	80113228	80113228	Human	1	alternate_id
11643184	CV270400	single nucleotide variant	NM_000152.5(GAA):c.1482A>G (p.Thr494=)	Cardiovascular phenotype [RCV002392803]\|GAA-related disorder [RCV003967751]\|Glycogen storage disease, type II [RCV001087762]\|not provided [RCV000725799]\|not specified [RCV000389259]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80110771	80110771	Human	2	alternate_id
11636858	CV270447	single nucleotide variant	NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)	GAA-related disorder [RCV003967753]\|Glycogen storage disease, type II [RCV001085439]\|not provided [RCV000586838]\|not specified [RCV000275982]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80118272	80118272	Human	1	alternate_id
11642731	CV270718	single nucleotide variant	NM_000152.5(GAA):c.317G>A (p.Arg106His)	GAA-related disorder [RCV004751434]\|Glycogen storage disease, type II [RCV000631065]\|not provided [RCV000380809]	conflicting interpretations of pathogenicity\|uncertain significance	17	80104903	80104903	Human	1	alternate_id
11642244	CV272918	single nucleotide variant	NM_000152.5(GAA):c.1347G>A (p.Ser449=)	Cardiovascular phenotype [RCV002379146]\|GAA-related disorder [RCV003897636]\|Glycogen storage disease, type II [RCV001499212]\|not provided [RCV000371494]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80109965	80109965	Human	2	alternate_id
11637518	CV274460	single nucleotide variant	NM_000152.5(GAA):c.664G>A (p.Val222Met)	GAA-related disorder [RCV003930185]\|Glycogen storage disease, type II [RCV000631099]\|not provided [RCV001705433]\|not specified [RCV000287222]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80105866	80105866	Human	1	alternate_id
11641516	CV275301	single nucleotide variant	NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)	Cardiovascular phenotype [RCV004021318]\|GAA-related disorder [RCV004751446]\|Glycogen storage disease, type II [RCV000550551]\|Primary dilated cardiomyopathy [RCV000852730]\|not provided [RCV001697654]\|not specified [RCV000357182]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	80108787	80108787	Human	3	alternate_id
11636051	CV275460	single nucleotide variant	NM_000152.5(GAA):c.2109C>T (p.Tyr703=)	Cardiovascular phenotype [RCV002418138]\|GAA-related disorder [RCV003949961]\|Glycogen storage disease, type II [RCV001082960]\|not provided [RCV000726677]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80113286	80113286	Human	2	alternate_id
405259987	CV3195315	single nucleotide variant	NM_000152.5(GAA):c.1770T>C (p.Ala590=)	GAA-related disorder [RCV003894508]\|Glycogen storage disease, type II [RCV005101623]	likely benign	17	80112593	80112593	Human	1	alternate_id
11649078	CV330447	single nucleotide variant	NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	GAA-related disorder [RCV004751466]\|Glycogen storage disease, type II [RCV000285433]\|not provided [RCV000498412]\|not specified [RCV002265734]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	80107625	80107625	Human	1	alternate_id
11663796	CV346307	single nucleotide variant	NM_000152.5(GAA):c.257C>G (p.Pro86Arg)	GAA-related disorder [RCV003912356]\|Glycogen storage disease, type II [RCV000399666]\|not provided [RCV001508997]\|not specified [RCV000595797]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80104843	80104843	Human	1	alternate_id
11661041	CV346310	single nucleotide variant	NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	GAA-related disorder [RCV004751465]\|Glycogen storage disease, type II [RCV000372885]\|not provided [RCV000497864]\|not specified [RCV002265733]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	80107616	80107616	Human	1	alternate_id
11655434	CV346312	single nucleotide variant	NM_000152.5(GAA):c.2151C>T (p.His717=)	Cardiovascular phenotype [RCV005338144]\|GAA-related disorder [RCV003957666]\|Glycogen storage disease, type II [RCV000325883]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80113328	80113328	Human	2	alternate_id
12837882	CV375741	single nucleotide variant	NM_000152.5(GAA):c.972G>A (p.Pro324=)	Cardiovascular phenotype [RCV002379329]\|GAA-related disorder [RCV003959903]\|Glycogen storage disease, type II [RCV000872499]\|not specified [RCV000425940]	likely benign	17	80108306	80108306	Human	2	alternate_id
12899327	CV410295	insertion	NM_000152.5(GAA):c.1888+10_1888+11insC	GAA-related disorder [RCV003962346]\|Glycogen storage disease, type II [RCV002063813]\|not provided [RCV000675233]\|not specified [RCV000479968]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80112721	80112722	Human	1	name , alternate_id
12906893	CV415590	single nucleotide variant	NM_000152.5(GAA):c.2105G>A (p.Arg702His)	GAA-related disorder [RCV003962356]\|Glycogen storage disease, type II [RCV000541873]\|not provided [RCV000489782]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	80113282	80113282	Human	1	alternate_id
13466334	CV468537	single nucleotide variant	NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)	GAA-related disorder [RCV003419922]\|Glycogen storage disease, type II [RCV000550745]	uncertain significance	17	80108766	80108766	Human	1	alternate_id
13498888	CV468999	single nucleotide variant	NM_000152.5(GAA):c.711G>A (p.Ala237=)	Cardiovascular phenotype [RCV002367775]\|GAA-related disorder [RCV003900115]\|Glycogen storage disease, type II [RCV000530651]\|not provided [RCV000591487]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80107575	80107575	Human	2	alternate_id
13500265	CV469012	single nucleotide variant	NM_000152.5(GAA):c.2274C>T (p.Ala758=)	Cardiovascular phenotype [RCV002448615]\|GAA-related disorder [RCV003960262]\|Glycogen storage disease, type II [RCV000536270]	likely benign	17	80117052	80117052	Human	2	alternate_id
13517035	CV491246	single nucleotide variant	NM_000152.5(GAA):c.1860C>T (p.Ser620=)	Cardiovascular phenotype [RCV002413677]\|GAA-related disorder [RCV003905535]\|Glycogen storage disease, type II [RCV001089227]\|not provided [RCV000596256]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80112683	80112683	Human	2	alternate_id
13516062	CV492126	single nucleotide variant	NM_000152.5(GAA):c.1757C>T (p.Ala586Val)	GAA-related disorder [RCV004751616]\|Glycogen storage disease, type II [RCV000812454]\|not provided [RCV000595049]	uncertain significance	17	80112580	80112580	Human	1	alternate_id
13537918	CV506466	single nucleotide variant	NM_000152.5(GAA):c.1872C>T (p.Leu624=)	Cardiovascular phenotype [RCV002413699]\|GAA-related disorder [RCV003915761]\|Glycogen storage disease, type II [RCV000960748]\|not specified [RCV000611074]	likely benign	17	80112695	80112695	Human	2	alternate_id
13539632	CV507211	single nucleotide variant	NM_000152.5(GAA):c.1629C>T (p.Tyr543=)	Cardiovascular phenotype [RCV002404646]\|GAA-related disorder [RCV003917920]\|Glycogen storage disease, type II [RCV001081315]\|not provided [RCV000730586]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80111018	80111018	Human	2	alternate_id
13613342	CV532035	single nucleotide variant	NM_000152.5(GAA):c.1743C>T (p.Ile581=)	Cardiovascular phenotype [RCV003302985]\|GAA-related disorder [RCV003918005]\|Glycogen storage disease, type II [RCV000631101]	likely benign\|uncertain significance	17	80112089	80112089	Human	2	alternate_id
13613354	CV532308	single nucleotide variant	NM_000152.5(GAA):c.1245G>A (p.Thr415=)	Cardiovascular phenotype [RCV002388000]\|GAA-related disorder [RCV004751641]\|Glycogen storage disease, type II [RCV000631114]	likely benign\|conflicting interpretations of pathogenicity	17	80108747	80108747	Human	2	alternate_id
13613324	CV532322	single nucleotide variant	NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)	Cardiovascular phenotype [RCV002431856]\|GAA-related disorder [RCV004751640]\|Glycogen storage disease, type II [RCV000631055]	likely benign\|uncertain significance	17	80116985	80116985	Human	2	alternate_id
13785934	CV548426	single nucleotide variant	NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)	GAA-related disorder [RCV003411583]\|Glycogen storage disease, type II [RCV000672387]\|not provided [RCV004719935]	pathogenic\|likely pathogenic	17	80112920	80112920	Human	1	alternate_id
13790166	CV549174	single nucleotide variant	NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	GAA-related disorder [RCV004751659]\|Glycogen storage disease, type II [RCV000674901]\|not provided [RCV001507903]	pathogenic\|likely pathogenic	17	80112965	80112965	Human	1	alternate_id
13821193	CV574666	single nucleotide variant	NM_000152.5(GAA):c.250G>A (p.Val84Ile)	GAA-related disorder [RCV004751666]\|Glycogen storage disease, type II [RCV000695540]\|not provided [RCV000731464]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80104836	80104836	Human	1	alternate_id
13837733	CV589023	single nucleotide variant	NM_000152.5(GAA):c.1047C>T (p.Ser349=)	Cardiovascular phenotype [RCV002397516]\|GAA-related disorder [RCV003892670]\|Glycogen storage disease, type II [RCV001089377]\|not provided [RCV000734226]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80108381	80108381	Human	2	alternate_id
14719315	CV646879	single nucleotide variant	NM_000152.5(GAA):c.725C>A (p.Ala242Glu)	GAA-related disorder [RCV003396382]\|Glycogen storage disease, type II [RCV000796146]\|not provided [RCV001507900]	uncertain significance	17	80107589	80107589	Human	1	alternate_id
14722764	CV646888	single nucleotide variant	NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)	GAA-related disorder [RCV003938174]\|Glycogen storage disease, type II [RCV000814062]\|not provided [RCV002259372]	conflicting interpretations of pathogenicity\|uncertain significance	17	80108734	80108734	Human	1	alternate_id
15114997	CV741107	single nucleotide variant	NM_000152.5(GAA):c.1800C>T (p.Arg600=)	GAA-related disorder [RCV003940764]\|Glycogen storage disease, type II [RCV001430514]	likely benign	17	80112623	80112623	Human	1	alternate_id
15166632	CV741108	single nucleotide variant	NM_000152.5(GAA):c.2757C>T (p.Asn919=)	Cardiovascular phenotype [RCV003169263]\|GAA-related disorder [RCV004751803]\|Glycogen storage disease, type II [RCV000904484]\|not provided [RCV003886451]	likely benign	17	80118763	80118763	Human	2	alternate_id
38472916	CV921202	deletion	NM_000152.5(GAA):c.1408_1410del (p.Asn470del)	GAA-related disorder [RCV004751912]\|Glycogen storage disease, type II [RCV001200863]\|not provided [RCV001780107]	pathogenic\|likely pathogenic	17	80110025	80110027	Human	1	alternate_id
8639408	CV98392	single nucleotide variant	NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	GAA-related disorder [RCV004751256]\|Glycogen storage disease [RCV004017390]\|Glycogen storage disease, type II [RCV000811478]\|not provided [RCV000078179]	pathogenic\|likely pathogenic	17	80104893	80104893	Human	2	alternate_id
127292519	CV1126892	duplication	NM_000152.5(GAA):c.2040+11_2040+18dup	Glycogen storage disease, type II [RCV001451776]	likely benign	17	80113035	80113036	Human	1	name
150544308	CV1313256	deletion	NM_000152.5(GAA):c.1754+11_1754+12del	not provided [RCV001783336]	pathogenic	17	80112111	80112112	Human		name
152062558	CV1594522	deletion	NM_000152.5(GAA):c.1194+16_1194+18del	Glycogen storage disease, type II [RCV002110296]	likely benign	17	80108623	80108625	Human	1	name
152087923	CV1594775	microsatellite	NM_000152.5(GAA):c.1889-12_1889-11del	Glycogen storage disease, type II [RCV002113666]	likely benign	17	80112862	80112863	Human		name
10041748	CV186559	inversion	NM_000152.5(GAA):c.2040+19_2040+20inv	Glycogen storage disease, type II [RCV001850384]\|not specified [RCV000168664]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	80113046	80113047	Human		name
13784707	CV548418	deletion	NM_000152.5(GAA):c.1888+51_1888+74del	Glycogen storage disease, type II [RCV000671181]	likely benign	17	80112761	80112784	Human	1	name
13786934	CV548809	deletion	NM_000152.5(GAA):c.1888+49_1888+72del	Glycogen storage disease, type II [RCV000673185]	likely benign	17	80112758	80112781	Human	1	name
14690149	CV621867	deletion	NM_000152.5(GAA):c.1195-19_2190-17del	Glycogen storage disease, type II [RCV000780267]	pathogenic	17	80108677	80116950	Human	1	name
156110876	CV1903907	indel	NM_000152.5(GAA):c.547-5_547-4delinsGG	Glycogen storage disease, type II [RCV003080965]	uncertain significance	17	80105744	80105745	Human		name
616933546	CV4011564	deletion	NM_000152.5(GAA):c.2040+20_2190-274del	Glycogen storage disease, type II [RCV005407645]	pathogenic	17	80113045	80116692	Human	1	name
14722420	CV653062	deletion	NM_000152.5(GAA):c.2481+110_2646+39del	Glycogen storage disease, type II [RCV000813887]\|not provided [RCV001784437]	pathogenic	17	80117851	80118388	Human	1	name
155709494	CV1834220	indel	NM_000152.5(GAA):c.1637-4_1637-3delinsG	Cardiovascular phenotype [RCV002403478]	uncertain significance	17	80111979	80111980	Human		name
14710067	CV669117	microsatellite	NM_000152.5(GAA):c.1327-229_1327-224del	not provided [RCV000841622]	benign	17	80109706	80109711	Human		name
127260460	CV1105492	insertion	NM_000152.5(GAA):c.858+7_858+8insACCGGGC	Glycogen storage disease, type II [RCV001427839]	likely benign	17	80107727	80107728	Human	1	name
155995484	CV1875670	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCGGGT	Glycogen storage disease, type II [RCV003076323]	likely benign	17	80107729	80107730	Human	1	name
11637341	CV272252	insertion	NM_000152.5(GAA):c.858+7_858+8insAGTGGGC	Glycogen storage disease, type II [RCV001478126]\|not provided [RCV000284263]	likely benign\|uncertain significance	17	80107727	80107728	Human	1	name
11637617	CV273913	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCAGGC	Glycogen storage disease, type II [RCV000631107]\|not specified [RCV000288984]	benign\|likely benign\|uncertain significance	17	80107727	80107728	Human	1	name
8639414	CV98398	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCGGGC	Glycogen storage disease, type II [RCV000578107]\|Metabolic myopathy [RCV003993793]\|not provided [RCV000588321]\|not specified [RCV000078186]	benign	17	80107727	80107728	Human	2	name
151751221	CV1370671	indel	NM_000152.5(GAA):c.1637-10_1637-9delinsGA	Glycogen storage disease, type II [RCV001872270]	uncertain significance	17	80111973	80111974	Human		name
155267685	CV1705085	microsatellite	NM_001424.6(EMP2):c.142_145A[4]GAAAA[1]	not provided [RCV002285690]	likely benign	16	10532759	10532760	Human		name
10407082	CV208406	insertion	NM_032043.3(BRIP1):c.2813_2815A[5]GAAA[1]	Breast neoplasm [RCV000355900]\|Fanconi anemia [RCV000301162]\|not specified [RCV000192862]	uncertain significance	17	61680480	61680481	Human	3	name
11635038	CV329239	insertion	NM_032043.3(BRIP1):c.2813_2815A[6]GAAA[1]	Breast neoplasm [RCV000302400]\|Fanconi anemia [RCV000401529]	uncertain significance	17	61680480	61680481	Human	3	name
11634956	CV345280	insertion	NM_032043.3(BRIP1):c.2813_2815A[4]GAAA[1]	Breast neoplasm [RCV000396183]\|Fanconi anemia [RCV000295215]	uncertain significance	17	61680480	61680481	Human	3	name
21067434	CV792623	indel	NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG	Friedreich ataxia 1 [RCV000991223]	likely benign				Human		name
156175601	CV2181434	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC	Glycogen storage disease, type II [RCV003057359]	likely benign	17	80107727	80107728	Human	1	name
13537484	CV506440	indel	NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT	Glycogen storage disease, type II [RCV002498928]\|not specified [RCV000610465]	likely benign	17	80107730	80107732	Human		name
13613249	CV532301	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC	Glycogen storage disease, type II [RCV000631073]	likely benign\|uncertain significance	17	80107727	80107728	Human	1	name
13786476	CV548405	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC	Glycogen storage disease, type II [RCV000672843]	likely benign	17	80107727	80107728	Human	1	name
151751084	CV1359205	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC	Glycogen storage disease, type II [RCV001969194]	likely benign\|uncertain significance	17	80107727	80107728	Human	1	name
13785895	CV548408	insertion	NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC	Glycogen storage disease, type II [RCV000672349]	likely benign	17	80107727	80107728	Human	1	name
21075970	CV791753	microsatellite	NM_007294.4(BRCA1):c.855_873A[20]GAAAAAAAAAAAAAAAAAAAAAA[1]	Breast-ovarian cancer, familial, susceptibility to, 1 [RCV000989860]	likely benign	17	43044804	43044805	Human		name
150544295	CV1313249	insertion	NM_000152.5(GAA):c.2481+109_2481+110insGCTCGGGGTTGAGAAGGGGTGAGGGGA	not provided [RCV001783329]	pathogenic	17	80117858	80117859	Human		name
156014068	CV2038531	indel	NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC	Glycogen storage disease, type II [RCV002780301]	likely pathogenic	17	80104538	80104545	Human		name
150544306	CV1313255	insertion	NM_000152.5(GAA):c.2481+109_2481+110insGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGT	not provided [RCV001783335]	pathogenic	17	80117858	80117859	Human		name

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