Phka2 Variant Search Result - Rat Genome Database

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551 records found for search term Phka2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12834748	CV379172	single nucleotide variant	NM_000292.3(PHKA2):c.-24C>T	not provided [RCV004713957]\|not specified [RCV000420494]	benign	X	18983956	18983956	Human		name
408365265	CV3500694	single nucleotide variant	NM_000292.3(PHKA2):c.79-2A>T	Glycogen storage disease IXa1 [RCV004720690]	likely pathogenic	X	18954414	18954414	Human	1	name
150548431	CV1316335	deletion	NM_000292.3(PHKA2):c.79-24del	not provided [RCV001786137]	likely benign	X	18954436	18954436	Human		name
151785702	CV1369457	single nucleotide variant	NM_000292.3(PHKA2):c.919-2A>G	Glycogen storage disease IXa1 [RCV002046582]	likely pathogenic	X	18938751	18938751	Human	1	name
152982487	CV1677419	single nucleotide variant	NM_000292.3(PHKA2):c.919-1G>A	Glycogen storage disease IXa1 [RCV002249128]	likely pathogenic	X	18938750	18938750	Human	1	name
243053259	CV2418148	single nucleotide variant	NM_000292.3(PHKA2):c.717+1G>A	Glycogen storage disease IXa1 [RCV003153214]	likely pathogenic	X	18943709	18943709	Human	1	name
8561757	CV25568	single nucleotide variant	NM_000292.3(PHKA2):c.717+1G>T	Glycogen storage disease IXa1 [RCV000011275]	pathogenic	X	18943709	18943709	Human	1	name
11548378	CV257804	single nucleotide variant	NM_000292.3(PHKA2):c.718-3C>T	Glycogen storage disease IXa1 [RCV000527669]\|not provided [RCV003114417]\|not specified [RCV000249008]	benign	X	18941678	18941678	Human	1	name
401727409	CV2736310	deletion	NM_000292.3(PHKA2):c.285+1del	not provided [RCV003312758]	pathogenic	X	18952493	18952493	Human		name
405198834	CV3047485	single nucleotide variant	NM_000292.3(PHKA2):c.454+9G>C	Glycogen storage disease IXa1 [RCV003641895]	likely benign	X	18951095	18951095	Human	1	name
408393849	CV3526244	single nucleotide variant	NM_000292.3(PHKA2):c.237+1G>T	Glycogen storage disease IXa1 [RCV004771676]	likely pathogenic	X	18954253	18954253	Human	1	name
12838140	CV380014	single nucleotide variant	NM_000292.3(PHKA2):c.78+10G>A	PHKA2-related disorder [RCV003925286]\|not specified [RCV000426418]	likely benign	X	18983845	18983845	Human	1	name , trait , alternate_id
13526655	CV508639	single nucleotide variant	NM_000292.3(PHKA2):c.79-18G>T	not specified [RCV000604420]	likely benign	X	18954430	18954430	Human		name
15040304	CV682745	single nucleotide variant	NM_000292.3(PHKA2):c.918+1G>A	Glycogen storage disease IXa1 [RCV000856685]\|Increased hepatic glycogen content [RCV003127491]\|not provided [RCV003442124]	pathogenic\|likely pathogenic	X	18939994	18939994	Human	3	name
15040307	CV682746	single nucleotide variant	NM_000292.3(PHKA2):c.718-2A>G	Glycogen storage disease IXa1 [RCV000856688]	pathogenic	X	18941677	18941677	Human	1	name
150441476	CV1287571	single nucleotide variant	NM_000292.3(PHKA2):c.238-88A>G	not provided [RCV001725291]	benign	X	18952629	18952629	Human		name
150535006	CV1311738	single nucleotide variant	NM_000292.3(PHKA2):c.3058-1G>A	Glycogen phosphorylase kinase deficiency [RCV001779550]\|not provided [RCV004728810]	likely pathogenic	X	18899227	18899227	Human		name
150548285	CV1316189	single nucleotide variant	NM_000292.3(PHKA2):c.454+35A>T	not provided [RCV001785990]	likely benign	X	18951069	18951069	Human		name
151784993	CV1369194	single nucleotide variant	NM_000292.3(PHKA2):c.3111+5C>T	Glycogen storage disease IXa1 [RCV002046514]\|Inborn genetic diseases [RCV002549017]	uncertain significance	X	18899168	18899168	Human	2	name
151873376	CV1429749	deletion	NM_000292.3(PHKA2):c.286-10del	Glycogen storage disease IXa1 [RCV001998635]	uncertain significance	X	18951282	18951282	Human	1	name
151709488	CV1515060	single nucleotide variant	NM_000292.3(PHKA2):c.1137+2T>C	Glycogen storage disease IXa1 [RCV002001660]	likely pathogenic	X	18936053	18936053	Human	1	name
152077819	CV1531384	single nucleotide variant	NM_000292.3(PHKA2):c.1460-5A>C	Glycogen storage disease IXa1 [RCV002210830]	likely benign	X	18925782	18925782	Human	1	name
152083386	CV1554706	single nucleotide variant	NM_000292.3(PHKA2):c.718-19C>T	Glycogen storage disease IXa1 [RCV002211714]	likely benign	X	18941694	18941694	Human	1	name
152072851	CV1615280	single nucleotide variant	NM_000292.3(PHKA2):c.285+12C>T	Glycogen storage disease IXa1 [RCV002091826]	likely benign	X	18952482	18952482	Human	1	name
152129422	CV1637468	single nucleotide variant	NM_000292.3(PHKA2):c.1793+8G>T	Glycogen storage disease IXa1 [RCV002217860]	likely benign	X	18924048	18924048	Human	1	name
152119533	CV1659239	single nucleotide variant	NM_000292.3(PHKA2):c.1245+9T>C	Glycogen storage disease IXa1 [RCV002175383]	likely benign	X	18931632	18931632	Human	1	name
152983243	CV1678071	single nucleotide variant	NM_000292.3(PHKA2):c.1324+1G>A	Glycogen storage disease IXa1 [RCV002250226]	pathogenic	X	18929227	18929227	Human	1	name
155267600	CV1705000	single nucleotide variant	NM_000292.3(PHKA2):c.2226+4A>G	not provided [RCV002285605]	uncertain significance	X	18910868	18910868	Human		name
156410000	CV1932076	single nucleotide variant	NM_000292.3(PHKA2):c.3282+8G>A	Glycogen storage disease IXa1 [RCV002607727]	likely benign	X	18897155	18897155	Human	1	name
156329688	CV1990885	single nucleotide variant	NM_000292.3(PHKA2):c.3027+8C>A	Glycogen storage disease IXa1 [RCV002630859]	likely benign	X	18901477	18901477	Human	1	name
156021511	CV2148145	single nucleotide variant	NM_000292.3(PHKA2):c.286-15T>A	Glycogen storage disease IXa1 [RCV003018252]	likely benign	X	18951287	18951287	Human	1	name
156111552	CV2207963	single nucleotide variant	NM_000292.3(PHKA2):c.1569+3G>A	Glycogen storage disease IXa1 [RCV003526225]\|Inborn genetic diseases [RCV002707238]	likely benign\|uncertain significance	X	18925665	18925665	Human	2	name
401854923	CV2752673	single nucleotide variant	NM_000292.3(PHKA2):c.1325-1G>A	Glycogen storage disease IXa1 [RCV003337727]	likely pathogenic	X	18926588	18926588	Human	1	name
401931139	CV2821301	single nucleotide variant	NM_000292.3(PHKA2):c.3337-6T>C	Glycogen storage disease IXa1 [RCV005100071]\|not provided [RCV003441100]	likely benign	X	18894410	18894410	Human	1	name
405012852	CV2902479	single nucleotide variant	NM_000292.3(PHKA2):c.454+10G>A	Glycogen storage disease IXa1 [RCV003527300]	likely benign	X	18951094	18951094	Human	1	name
405014733	CV2919401	single nucleotide variant	NM_000292.3(PHKA2):c.3112-2A>G	Glycogen storage disease IXa1 [RCV003527588]	likely pathogenic	X	18897335	18897335	Human	1	name
597847990	CV3762045	single nucleotide variant	NM_000292.3(PHKA2):c.238-18T>G	Glycogen storage disease IXa1 [RCV005087463]	likely benign	X	18952559	18952559	Human	1	name
12843009	CV378088	single nucleotide variant	NM_000292.3(PHKA2):c.2518-5C>T	not specified [RCV000435456]	likely benign	X	18907102	18907102	Human		name
12844181	CV378089	single nucleotide variant	NM_000292.3(PHKA2):c.1964-7A>G	Glycogen storage disease IXa1 [RCV000972284]\|not provided [RCV001712282]	benign\|likely benign	X	18918861	18918861	Human	1	name
13509401	CV434692	single nucleotide variant	NM_000292.3(PHKA2):c.2137+5G>A	Glycogen phosphorylase kinase deficiency [RCV000578927]\|Glycogen storage disease IXa1 [RCV003640904]\|not provided [RCV001591161]\|not specified [RCV004782412]	uncertain significance\|not provided	X	18918676	18918676	Human	2	name
13533511	CV508119	single nucleotide variant	NM_000292.3(PHKA2):c.2909-3C>T	not specified [RCV000601687]	likely benign	X	18901606	18901606	Human		name
13541844	CV508127	single nucleotide variant	NM_000292.3(PHKA2):c.2517+3C>T	not specified [RCV000616713]	likely benign	X	18907897	18907897	Human		name
13529649	CV508132	single nucleotide variant	NM_000292.3(PHKA2):c.537+11A>C	not specified [RCV000600389]	likely benign	X	18948733	18948733	Human		name
13538743	CV508506	single nucleotide variant	NM_000292.3(PHKA2):c.455-10T>C	not provided [RCV000939611]\|not specified [RCV000612278]	likely benign	X	18948836	18948836	Human		name
13538053	CV508630	single nucleotide variant	NM_000292.3(PHKA2):c.1715-3T>C	not specified [RCV000611276]	likely benign	X	18924137	18924137	Human		name
13538726	CV508632	single nucleotide variant	NM_000292.3(PHKA2):c.1715-7T>C	not specified [RCV000612252]	likely benign	X	18924141	18924141	Human		name
13613457	CV534769	single nucleotide variant	NM_000292.3(PHKA2):c.3336+2T>A	Glycogen storage disease IXa1 [RCV000631190]	likely pathogenic	X	18895136	18895136	Human	1	name
13613455	CV535123	single nucleotide variant	NM_000292.3(PHKA2):c.1714+1G>A	Glycogen storage disease IXa1 [RCV000631188]	likely pathogenic	X	18924380	18924380	Human	1	name
13806539	CV575378	single nucleotide variant	NM_000292.3(PHKA2):c.2597+1G>A	Glycogen storage disease IXa1 [RCV000686297]	likely pathogenic	X	18907017	18907017	Human	1	name
14397367	CV613241	single nucleotide variant	NM_000292.3(PHKA2):c.1325-2A>G	not provided [RCV000762609]	likely pathogenic	X	18926589	18926589	Human		name
21073345	CV792198	single nucleotide variant	NM_000292.3(PHKA2):c.1138-2A>G	Glycogen storage disease IXa1 [RCV000990494]	pathogenic	X	18931750	18931750	Human	1	name
26887027	CV851954	single nucleotide variant	NM_000292.3(PHKA2):c.2518-1G>A	Glycogen storage disease IXa1 [RCV001055694]	likely pathogenic	X	18907098	18907098	Human	1	name
26916632	CV852486	duplication	NM_000292.3(PHKA2):c.3336+1dup	Glycogen storage disease IXa1 [RCV001040724]	likely pathogenic	X	18895136	18895137	Human	1	name
26918394	CV852489	single nucleotide variant	NM_000292.3(PHKA2):c.1042-1G>A	Glycogen storage disease IXa1 [RCV001043586]	likely pathogenic	X	18936151	18936151	Human	1	name
38489282	CV940549	single nucleotide variant	NM_000292.3(PHKA2):c.3283-1G>C	Glycogen storage disease IXa1 [RCV001210137]	likely pathogenic	X	18895192	18895192	Human	1	name
38494642	CV960979	single nucleotide variant	NM_000292.3(PHKA2):c.1964-3C>T	Glycogen storage disease IXa1 [RCV001241435]	uncertain significance	X	18918857	18918857	Human	1	name
38598469	CV964703	duplication	NM_000292.3(PHKA2):c.2597+2dup	Glycogen storage disease IXa1 [RCV001253641]	uncertain significance	X	18907015	18907016	Human	1	name
126730026	CV999714	single nucleotide variant	NM_000292.3(PHKA2):c.2517+5G>A	Glycogen storage disease IXa1 [RCV001303082]	uncertain significance	X	18907895	18907895	Human	1	name
127315529	CV1150639	single nucleotide variant	NM_000292.3(PHKA2):c.3111+14G>T	Glycogen storage disease IXa1 [RCV001502743]	likely benign	X	18899159	18899159	Human	1	name
150340432	CV1168494	single nucleotide variant	NM_000292.3(PHKA2):c.2807-41C>T	not provided [RCV001535364]	benign	X	18905900	18905900	Human		name
150473377	CV1217618	single nucleotide variant	NM_000292.3(PHKA2):c.919-300A>G	not provided [RCV001615629]	benign	X	18939049	18939049	Human		name
150465881	CV1218095	deletion	NM_000292.3(PHKA2):c.285+164del	not provided [RCV001614221]	benign	X	18952330	18952330	Human		name
150434577	CV1231126	single nucleotide variant	NM_000292.3(PHKA2):c.2517+75C>T	not provided [RCV001643770]	benign	X	18907825	18907825	Human		name
150441903	CV1233615	single nucleotide variant	NM_000292.3(PHKA2):c.619-115T>A	not provided [RCV001645303]	benign	X	18943923	18943923	Human		name
150489035	CV1237577	single nucleotide variant	NM_000292.3(PHKA2):c.1794-72G>A	not provided [RCV001654426]	benign	X	18920273	18920273	Human		name
150452303	CV1254945	single nucleotide variant	NM_000292.3(PHKA2):c.3336+76C>T	not provided [RCV001668004]	benign	X	18895062	18895062	Human		name
150485825	CV1280846	deletion	NM_000292.3(PHKA2):c.2138-51del	not provided [RCV001715675]	benign	X	18911011	18911011	Human		name
150516054	CV1287201	single nucleotide variant	NM_000292.3(PHKA2):c.3112-61C>T	not provided [RCV001723197]	benign	X	18897394	18897394	Human		name
150548727	CV1316491	single nucleotide variant	NM_000292.3(PHKA2):c.619-143A>G	not provided [RCV001786293]	likely benign	X	18943951	18943951	Human		name
151232415	CV1316776	single nucleotide variant	NM_000292.3(PHKA2):c.454+124C>T	not provided [RCV001786596]	likely benign	X	18950980	18950980	Human		name
151232897	CV1316923	single nucleotide variant	NM_000292.3(PHKA2):c.1460-43C>T	not provided [RCV001786743]	likely benign	X	18925820	18925820	Human		name
151233697	CV1317191	single nucleotide variant	NM_000292.3(PHKA2):c.286-145G>A	not provided [RCV001787012]	likely benign	X	18951417	18951417	Human		name
152032261	CV1546239	single nucleotide variant	NM_000292.3(PHKA2):c.3112-14T>C	Glycogen storage disease IXa1 [RCV002124713]	benign	X	18897347	18897347	Human	1	name
152039263	CV1555265	single nucleotide variant	NM_000292.3(PHKA2):c.1138-15T>G	Glycogen storage disease IXa1 [RCV002107492]	likely benign	X	18931763	18931763	Human	1	name
152153630	CV1577967	single nucleotide variant	NM_000292.3(PHKA2):c.3282+14C>T	Glycogen storage disease IXa1 [RCV002122100]	likely benign	X	18897149	18897149	Human	1	name
152094282	CV1634505	single nucleotide variant	NM_000292.3(PHKA2):c.2677-17G>A	Glycogen storage disease IXa1 [RCV002213152]	likely benign	X	18906641	18906641	Human	1	name
152072438	CV1643762	single nucleotide variant	NM_000292.3(PHKA2):c.3111+14G>A	Glycogen storage disease IXa1 [RCV002111639]	likely benign	X	18899159	18899159	Human	1	name
153303412	CV1686221	single nucleotide variant	NM_000292.3(PHKA2):c.3336+24C>T	not provided [RCV002261654]	uncertain significance	X	18895114	18895114	Human		name
156403651	CV1871832	single nucleotide variant	NM_000292.3(PHKA2):c.2807-11T>C	Glycogen storage disease IXa1 [RCV003052650]	likely benign	X	18905870	18905870	Human	1	name
156161721	CV1872368	single nucleotide variant	NM_000292.3(PHKA2):c.1137+17G>A	Glycogen storage disease IXa1 [RCV003056929]	likely benign	X	18936038	18936038	Human	1	name
156412089	CV1890322	single nucleotide variant	NM_000292.3(PHKA2):c.3282+15G>A	Glycogen storage disease IXa1 [RCV003072751]	likely benign	X	18897148	18897148	Human	1	name
156376387	CV2000312	single nucleotide variant	NM_000292.3(PHKA2):c.1715-14C>T	Glycogen storage disease IXa1 [RCV002653328]	benign	X	18924148	18924148	Human	1	name
11550974	CV257795	single nucleotide variant	NM_000292.3(PHKA2):c.3027+48C>A	not provided [RCV004703511]\|not specified [RCV000252445]	likely benign	X	18901437	18901437	Human		name
11546847	CV257796	single nucleotide variant	NM_000292.3(PHKA2):c.2807-46G>A	not specified [RCV000246996]	likely benign	X	18905905	18905905	Human		name
11546467	CV257799	single nucleotide variant	NM_000292.3(PHKA2):c.2361-12A>C	Glycogen storage disease IXa1 [RCV002057335]\|not provided [RCV000675942]\|not specified [RCV000246499]	benign	X	18908068	18908068	Human	1	name
405011335	CV2895374	single nucleotide variant	NM_000292.3(PHKA2):c.1964-15C>A	Glycogen storage disease IXa1 [RCV003527261]	likely benign	X	18918869	18918869	Human	1	name
405011695	CV2896074	single nucleotide variant	NM_000292.3(PHKA2):c.2806+12G>A	Glycogen storage disease IXa1 [RCV003527320]	likely benign	X	18906483	18906483	Human	1	name
405011655	CV2902196	single nucleotide variant	NM_000292.3(PHKA2):c.2806+16C>T	Glycogen storage disease IXa1 [RCV003527292]	benign	X	18906479	18906479	Human	1	name
405014210	CV2915803	single nucleotide variant	NM_000292.3(PHKA2):c.2360+12A>G	Glycogen storage disease IXa1 [RCV003527561]	likely benign	X	18908789	18908789	Human	1	name
405201893	CV3076722	single nucleotide variant	NM_000292.3(PHKA2):c.3336+20G>T	Glycogen storage disease IXa1 [RCV003642298]	likely benign	X	18895118	18895118	Human	1	name
405129629	CV3114929	single nucleotide variant	NM_000292.3(PHKA2):c.3027+10C>T	Glycogen storage disease IXa1 [RCV003815774]	likely benign	X	18901475	18901475	Human	1	name
597935011	CV3759354	single nucleotide variant	NM_000292.3(PHKA2):c.2598-14A>G	Glycogen storage disease IXa1 [RCV005076474]	likely benign	X	18906828	18906828	Human	1	name
597905504	CV3772933	single nucleotide variant	NM_000292.3(PHKA2):c.1324+11G>C	Glycogen storage disease IXa1 [RCV005112998]	likely benign	X	18929217	18929217	Human	1	name
597962534	CV3791454	single nucleotide variant	NM_000292.3(PHKA2):c.3336+10G>T	Glycogen storage disease IXa1 [RCV005139208]	likely benign	X	18895128	18895128	Human	1	name
12840918	CV379166	single nucleotide variant	NM_000292.3(PHKA2):c.1246-12C>T	Glycogen storage disease IXa1 [RCV001511666]\|not specified [RCV000431619]	benign\|likely benign	X	18929318	18929318	Human	1	name
12838808	CV379169	single nucleotide variant	NM_000292.3(PHKA2):c.1041+10T>C	not specified [RCV000427641]	likely benign	X	18938617	18938617	Human		name
597975028	CV3798687	single nucleotide variant	NM_000292.3(PHKA2):c.2806+11C>T	Glycogen storage disease IXa1 [RCV005144275]	likely benign	X	18906484	18906484	Human	1	name
12839215	CV380010	single nucleotide variant	NM_000292.3(PHKA2):c.3282+13G>A	Glycogen storage disease IXa1 [RCV001517946]\|not provided [RCV000675939]\|not specified [RCV000428399]	benign\|likely benign	X	18897150	18897150	Human	1	name
597873389	CV3836293	single nucleotide variant	NM_000292.3(PHKA2):c.3336+16C>T	Glycogen storage disease IXa1 [RCV005177090]	likely benign	X	18895122	18895122	Human	1	name
13534799	CV508005	single nucleotide variant	NM_000292.3(PHKA2):c.2597+11A>C	not specified [RCV000607443]	likely benign	X	18907007	18907007	Human		name
13535472	CV508007	single nucleotide variant	NM_000292.3(PHKA2):c.1794-16G>A	not specified [RCV000607803]	likely benign	X	18920217	18920217	Human		name
13538533	CV508123	single nucleotide variant	NM_000292.3(PHKA2):c.2807-18C>T	Glycogen storage disease IXa1 [RCV003640916]\|not specified [RCV000611972]	likely benign	X	18905877	18905877	Human	1	name
13536390	CV508491	single nucleotide variant	NM_000292.3(PHKA2):c.3336+17G>A	Glycogen storage disease IXa1 [RCV002531569]\|not specified [RCV000608929]	benign\|likely benign	X	18895121	18895121	Human	1	name
13539179	CV508499	single nucleotide variant	NM_000292.3(PHKA2):c.1042-17A>G	Glycogen storage disease IXa1 [RCV002065263]\|not specified [RCV000612916]	benign\|likely benign	X	18936167	18936167	Human	1	name
13592638	CV508625	single nucleotide variant	NM_000292.3(PHKA2):c.2806+13C>A	Glycogen storage disease IXa1 [RCV002065205]\|not specified [RCV000605570]	benign\|likely benign	X	18906482	18906482	Human	1	name
13535383	CV508628	single nucleotide variant	NM_000292.3(PHKA2):c.1793+18T>A	Glycogen storage disease IXa1 [RCV002065247]\|not specified [RCV000607736]	benign\|likely benign	X	18924038	18924038	Human	1	name
13537908	CV508636	deletion	NM_000292.3(PHKA2):c.1459+17del	not specified [RCV000611060]	likely benign	X	18926436	18926436	Human		name
13787582	CV549830	single nucleotide variant	NM_000292.3(PHKA2):c.1041+22C>T	not provided [RCV000675946]	benign	X	18938605	18938605	Human		name
14703856	CV654966	single nucleotide variant	NM_000292.3(PHKA2):c.1042-12G>C	not specified [RCV000825434]	uncertain significance	X	18936162	18936162	Human		name
150331877	CV1173559	single nucleotide variant	NM_000292.3(PHKA2):c.1460-152C>T	not provided [RCV001538814]	benign	X	18925929	18925929	Human		name
150418537	CV1195737	single nucleotide variant	NM_000292.3(PHKA2):c.2361-124C>A	not provided [RCV001569264]	likely benign	X	18908180	18908180	Human		name
150440821	CV1204456	single nucleotide variant	NM_000292.3(PHKA2):c.1964-141G>A	not provided [RCV001583561]	likely benign	X	18918995	18918995	Human		name
150503027	CV1223365	single nucleotide variant	NM_000292.3(PHKA2):c.1042-116C>T	not provided [RCV001621300]	benign	X	18936266	18936266	Human		name
150511060	CV1229341	single nucleotide variant	NM_000292.3(PHKA2):c.1964-238T>C	not provided [RCV001637269]	benign	X	18919092	18919092	Human		name
150508053	CV1244723	single nucleotide variant	NM_000292.3(PHKA2):c.2908+122T>C	not provided [RCV001658972]	likely benign	X	18905636	18905636	Human		name
150446983	CV1250750	duplication	NM_000292.3(PHKA2):c.3028-328dup	not provided [RCV001667255]	benign	X	18901007	18901008	Human		name
150477898	CV1252086	single nucleotide variant	NM_000292.3(PHKA2):c.1460-214T>C	not provided [RCV001672286]	benign	X	18925991	18925991	Human		name
150501952	CV1255156	single nucleotide variant	NM_000292.3(PHKA2):c.1324+125G>A	not provided [RCV001677075]	benign	X	18929103	18929103	Human		name
150548376	CV1316280	single nucleotide variant	NM_000292.3(PHKA2):c.1137+147C>T	not provided [RCV001786081]	likely benign	X	18935908	18935908	Human		name
150548394	CV1316298	single nucleotide variant	NM_000292.3(PHKA2):c.1460-117C>G	not provided [RCV001786099]	likely benign	X	18925894	18925894	Human		name
150548451	CV1316351	single nucleotide variant	NM_000292.3(PHKA2):c.1964-125C>T	not provided [RCV001786153]	likely benign	X	18918979	18918979	Human		name
150548553	CV1316402	single nucleotide variant	NM_000292.3(PHKA2):c.2137+110C>T	not provided [RCV001786204]	likely benign	X	18918571	18918571	Human		name
407572655	CV3496982	deletion	NM_000292.3(PHKA2):c.455-5_463del	Glycogen storage disease IXa1 [RCV004698813]	likely pathogenic	X	18948818	18948831	Human	1	name
13540452	CV508493	microsatellite	NM_000292.3(PHKA2):c.2909-21GT[6]	not specified [RCV000614717]	likely benign	X	18901614	18901615	Human		name
404994382	CV2860927	deletion	NM_000292.3(PHKA2):c.3329_3336+6del	Glycogen storage disease IXa1 [RCV003525488]	pathogenic	X	18895132	18895145	Human	1	name
598123654	CV3890425	duplication	NM_000292.3(PHKA2):c.1137_1137+3dup	not provided [RCV005250944]	uncertain significance	X	18936051	18936052	Human		name
13613460	CV534775	deletion	NM_000292.3(PHKA2):c.1794-8_1812del	Glycogen storage disease IXa1 [RCV000631192]	pathogenic	X	18920183	18920209	Human	1	name
38480353	CV940550	deletion	NM_000292.3(PHKA2):c.285+2_285+5del	Glycogen storage disease IXa1 [RCV001206358]	likely pathogenic	X	18952489	18952492	Human	1	name
152117817	CV1643914	single nucleotide variant	NM_000292.3(PHKA2):c.18T>C (p.Asn6=)	Glycogen storage disease IXa1 [RCV002135323]	likely benign	X	18983915	18983915	Human	1	name
126745022	CV1014864	single nucleotide variant	NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	Glycogen phosphorylase kinase deficiency [RCV003230658]\|Glycogen storage disease IXa1 [RCV001312531]\|PHKA2-related disorder [RCV004754725]\|not provided [RCV002264263]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	18983929	18983929	Human	2	name , trait , alternate_id
127254191	CV1056759	single nucleotide variant	NM_000292.3(PHKA2):c.1A>G (p.Met1Val)	Glycogen storage disease IXa1 [RCV001379104]\|not provided [RCV002292634]	pathogenic\|likely pathogenic	X	18983932	18983932	Human	1	name
151718585	CV1509643	single nucleotide variant	NM_000292.3(PHKA2):c.7A>C (p.Ser3Arg)	Glycogen storage disease IXa1 [RCV001890726]	uncertain significance	X	18983926	18983926	Human	1	name
155973703	CV2088582	microsatellite	NM_000292.3(PHKA2):c.1794-8_1794-6del	Glycogen storage disease IXa1 [RCV002863436]	uncertain significance	X	18920207	18920209	Human		name
405007482	CV2892411	single nucleotide variant	NM_000292.3(PHKA2):c.84C>T (p.Pro28=)	Glycogen storage disease IXa1 [RCV003526931]	likely benign	X	18954407	18954407	Human	1	name
405262318	CV3194399	single nucleotide variant	NM_000292.3(PHKA2):c.42C>T (p.Tyr14=)	PHKA2-related disorder [RCV003896429]	likely benign	X	18983891	18983891	Human		name , trait , alternate_id
405009730	CV2893951	single nucleotide variant	NM_000292.3(PHKA2):c.147C>T (p.Tyr49=)	Glycogen storage disease IXa1 [RCV003527131]	likely benign	X	18954344	18954344	Human	1	name
405066637	CV3148883	single nucleotide variant	NM_000292.3(PHKA2):c.216C>T (p.Ala72=)	Glycogen storage disease IXa1 [RCV003850645]	likely benign	X	18954275	18954275	Human	1	name
408392950	CV3519626	single nucleotide variant	NM_000292.3(PHKA2):c.10A>G (p.Arg4Gly)	not provided [RCV004763922]	uncertain significance	X	18983923	18983923	Human		name
13532116	CV508637	single nucleotide variant	NM_000292.3(PHKA2):c.132G>A (p.Val44=)	Glycogen storage disease IXa1 [RCV005091604]\|not specified [RCV000606699]	benign\|likely benign	X	18954359	18954359	Human	1	name
38468252	CV939520	deletion	NM_000292.3(PHKA2):c.93del (p.Leu32fs)	Glycogen storage disease IXa1 [RCV001202171]	pathogenic	X	18954398	18954398	Human	1	name
150474804	CV1217856	deletion	NM_000292.3(PHKA2):c.2518-45_2518-44del	not provided [RCV001615867]	benign	X	18907141	18907142	Human		name
150535833	CV1312058	deletion	NM_000292.3(PHKA2):c.2138-52_2138-51del	not provided [RCV001779869]	likely benign	X	18911011	18911012	Human		name
152157848	CV1541860	single nucleotide variant	NM_000292.3(PHKA2):c.477C>T (p.Leu159=)	Glycogen storage disease IXa1 [RCV002103217]	likely benign	X	18948804	18948804	Human	1	name
156131104	CV1933910	single nucleotide variant	NM_000292.3(PHKA2):c.44C>T (p.Ala15Val)	Glycogen storage disease IXa1 [RCV002640717]\|Inborn genetic diseases [RCV004072022]	uncertain significance	X	18983889	18983889	Human	2	name
10049148	CV195873	single nucleotide variant	NM_000292.3(PHKA2):c.742A>C (p.Arg248=)	Glycogen storage disease IXa1 [RCV000963561]\|not provided [RCV005230043]\|not specified [RCV000180130]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	18941651	18941651	Human	1	name
156019215	CV2141110	single nucleotide variant	NM_000292.3(PHKA2):c.858G>A (p.Lys286=)	Glycogen storage disease IXa1 [RCV002976067]	likely benign	X	18941535	18941535	Human	1	name
11545158	CV257803	single nucleotide variant	NM_000292.3(PHKA2):c.849T>A (p.Ile283=)	Glycogen storage disease IXa1 [RCV000974777]\|not provided [RCV003114418]\|not specified [RCV000244759]	benign	X	18941544	18941544	Human	1	name
401931145	CV2821306	single nucleotide variant	NM_000292.3(PHKA2):c.681G>C (p.Val227=)	not provided [RCV003441105]	likely benign	X	18943746	18943746	Human		name
405199040	CV3048173	single nucleotide variant	NM_000292.3(PHKA2):c.354C>T (p.Thr118=)	Glycogen storage disease IXa1 [RCV003641924]\|PHKA2-related disorder [RCV003929311]	likely benign	X	18951204	18951204	Human	2	name , trait , alternate_id
405282727	CV3191148	single nucleotide variant	NM_000292.3(PHKA2):c.420C>G (p.Leu140=)	PHKA2-related disorder [RCV003921560]	likely benign	X	18951138	18951138	Human		name , trait , alternate_id
12843660	CV380013	single nucleotide variant	NM_000292.3(PHKA2):c.963C>T (p.Phe321=)	Glycogen storage disease IXa1 [RCV000974805]\|not provided [RCV004713963]\|not specified [RCV000436607]	benign	X	18938705	18938705	Human	1	name
12907090	CV415761	single nucleotide variant	NM_000292.3(PHKA2):c.85G>A (p.Val29Ile)	not provided [RCV000490017]	uncertain significance	X	18954406	18954406	Human		name
13539490	CV508133	single nucleotide variant	NM_000292.3(PHKA2):c.339C>T (p.His113=)	Glycogen storage disease IXa1 [RCV000911109]\|not specified [RCV000613353]	likely benign	X	18951219	18951219	Human	1	name
13808589	CV573768	deletion	NM_000292.3(PHKA2):c.-9_2del (p.Met1fs)	Glycogen storage disease IXa1 [RCV000687343]	pathogenic\|likely pathogenic	X	18983931	18983941	Human	1	name
14709314	CV656760	single nucleotide variant	NM_000292.3(PHKA2):c.585G>A (p.Pro195=)	Glycogen storage disease IXa1 [RCV005092481]\|not provided [RCV000827398]	likely benign	X	18945111	18945111	Human	1	name
15125073	CV773949	single nucleotide variant	NM_000292.3(PHKA2):c.816T>C (p.Asp272=)	not provided [RCV000941145]	likely benign	X	18941577	18941577	Human		name
15194671	CV773950	single nucleotide variant	NM_000292.3(PHKA2):c.37G>A (p.Gly13Arg)	Glycogen storage disease IXa1 [RCV002068678]	likely benign	X	18983896	18983896	Human	1	name
150334703	CV1166444	single nucleotide variant	NM_000292.3(PHKA2):c.226G>A (p.Glu76Lys)	not provided [RCV001531135]	uncertain significance	X	18954265	18954265	Human		name
151348662	CV1324152	single nucleotide variant	NM_000292.3(PHKA2):c.147C>A (p.Tyr49Ter)	Glycogen storage disease IXa1 [RCV001808067]	likely pathogenic	X	18954344	18954344	Human	1	name
151348795	CV1324225	single nucleotide variant	NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter)	Glycogen storage disease IXa1 [RCV001808141]	likely pathogenic	X	18952523	18952523	Human	1	name
151353562	CV1326725	single nucleotide variant	NM_000292.3(PHKA2):c.1632G>A (p.Arg544=)	Glycogen storage disease IXa1 [RCV003772279]\|not provided [RCV001816528]	likely benign	X	18924463	18924463	Human	1	name
151735278	CV1354685	single nucleotide variant	NM_000292.3(PHKA2):c.200G>A (p.Arg67His)	Glycogen storage disease IXa1 [RCV001892681]\|not specified [RCV003235610]	uncertain significance	X	18954291	18954291	Human	1	name
151845425	CV1415028	single nucleotide variant	NM_000292.3(PHKA2):c.167G>A (p.Gly56Asp)	Glycogen storage disease IXa1 [RCV001903363]	uncertain significance	X	18954324	18954324	Human	1	name
151756235	CV1513559	single nucleotide variant	NM_000292.3(PHKA2):c.272G>A (p.Cys91Tyr)	Glycogen storage disease IXa1 [RCV001928008]	uncertain significance	X	18952507	18952507	Human	1	name
152141750	CV1532990	single nucleotide variant	NM_000292.3(PHKA2):c.295G>A (p.Val99Met)	Glycogen storage disease IXa1 [RCV002156863]\|not provided [RCV003438918]	likely benign	X	18951263	18951263	Human	1	name
152094088	CV1561715	single nucleotide variant	NM_000292.3(PHKA2):c.2385C>G (p.Leu795=)	Glycogen storage disease IXa1 [RCV002194681]	likely benign	X	18908032	18908032	Human	1	name
152166324	CV1620894	single nucleotide variant	NM_000292.3(PHKA2):c.2622A>G (p.Thr874=)	Glycogen storage disease IXa1 [RCV002181909]	likely benign	X	18906790	18906790	Human	1	name
152152726	CV1623271	single nucleotide variant	NM_000292.3(PHKA2):c.1215C>T (p.Ser405=)	Glycogen storage disease IXa1 [RCV002221066]\|PHKA2-related disorder [RCV004754841]\|not provided [RCV003438931]	likely benign	X	18931671	18931671	Human	2	name , trait , alternate_id
152098614	CV1639929	single nucleotide variant	NM_000292.3(PHKA2):c.2868C>T (p.His956=)	Glycogen storage disease IXa1 [RCV002078687]	likely benign	X	18905798	18905798	Human	1	name
152047577	CV1654005	single nucleotide variant	NM_000292.3(PHKA2):c.1308T>G (p.Pro436=)	Glycogen storage disease IXa1 [RCV002088733]	likely benign	X	18929244	18929244	Human	1	name
153303931	CV1690558	single nucleotide variant	NM_000292.3(PHKA2):c.193G>T (p.Ala65Ser)	not provided [RCV002269602]	uncertain significance	X	18954298	18954298	Human		name
155974067	CV1889766	single nucleotide variant	NM_000292.3(PHKA2):c.1221C>T (p.Tyr407=)	Glycogen storage disease IXa1 [RCV003075321]	likely benign	X	18931665	18931665	Human	1	name
156301424	CV2069938	single nucleotide variant	NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg)	Glycogen storage disease IXa1 [RCV002833638]	uncertain significance	X	18954273	18954273	Human	1	name
156139543	CV2246880	single nucleotide variant	NM_000292.3(PHKA2):c.279G>A (p.Met93Ile)	Inborn genetic diseases [RCV002763443]	uncertain significance	X	18952500	18952500	Human	1	name
11544485	CV257797	single nucleotide variant	NM_000292.3(PHKA2):c.2532G>A (p.Leu844=)	Glycogen storage disease IXa1 [RCV000538337]\|not provided [RCV004713438]\|not specified [RCV000243860]	benign	X	18907083	18907083	Human	1	name
11550676	CV257798	single nucleotide variant	NM_000292.3(PHKA2):c.2436G>A (p.Gly812=)	Glycogen storage disease IXa1 [RCV001079231]\|not provided [RCV000675940]\|not specified [RCV000252064]	benign	X	18907981	18907981	Human	1	name
11546697	CV257802	single nucleotide variant	NM_000292.3(PHKA2):c.1758T>C (p.Ile586=)	not provided [RCV004703510]\|not specified [RCV000246800]	likely benign	X	18924091	18924091	Human		name
11543712	CV257805	single nucleotide variant	NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)	Glycogen storage disease IXa1 [RCV000528019]\|not provided [RCV000675947]\|not specified [RCV000242827]	benign\|likely benign	X	18954379	18954379	Human	1	name
401931140	CV2821302	single nucleotide variant	NM_000292.3(PHKA2):c.2442C>T (p.Ala814=)	not provided [RCV003441101]	likely benign	X	18907975	18907975	Human		name
401931142	CV2821304	single nucleotide variant	NM_000292.3(PHKA2):c.2085C>A (p.Ser695=)	not provided [RCV003441103]	likely benign	X	18918733	18918733	Human		name
404996767	CV2860166	single nucleotide variant	NM_000292.3(PHKA2):c.2445C>T (p.Gly815=)	Glycogen storage disease IXa1 [RCV003525664]	likely benign	X	18907972	18907972	Human	1	name
405003836	CV2923847	deletion	NM_000292.3(PHKA2):c.584del (p.Pro195fs)	Glycogen storage disease IXa1 [RCV003526586]	pathogenic	X	18945112	18945112	Human	1	name
405199686	CV3060108	single nucleotide variant	NM_000292.3(PHKA2):c.2895C>T (p.Gly965=)	Glycogen storage disease IXa1 [RCV003642008]	likely benign	X	18905771	18905771	Human	1	name
405134727	CV3133932	single nucleotide variant	NM_000292.3(PHKA2):c.2598G>T (p.Ala866=)	Glycogen storage disease IXa1 [RCV003838711]	uncertain significance	X	18906814	18906814	Human	1	name
405211129	CV3146301	single nucleotide variant	NM_000292.3(PHKA2):c.1942C>T (p.Leu648=)	Glycogen storage disease IXa1 [RCV003845832]	likely benign	X	18920053	18920053	Human	1	name
404983296	CV3184207	single nucleotide variant	NM_000292.3(PHKA2):c.2613G>A (p.Glu871=)	Glycogen storage disease IXa1 [RCV003880699]	likely benign	X	18906799	18906799	Human	1	name
405274869	CV3204445	single nucleotide variant	NM_000292.3(PHKA2):c.1188G>A (p.Gly396=)	Glycogen storage disease IXa1 [RCV005064857]\|PHKA2-related disorder [RCV003951887]	likely benign	X	18931698	18931698	Human	2	name , trait , alternate_id
405287500	CV3205707	single nucleotide variant	NM_000292.3(PHKA2):c.1746G>T (p.Val582=)	PHKA2-related disorder [RCV003959826]	likely benign	X	18924103	18924103	Human		name , trait , alternate_id
405285369	CV3212366	single nucleotide variant	NM_000292.3(PHKA2):c.2397C>T (p.His799=)	PHKA2-related disorder [RCV003958977]	likely benign	X	18908020	18908020	Human		name , trait , alternate_id
405283243	CV3216995	single nucleotide variant	NM_000292.3(PHKA2):c.2244T>C (p.Phe748=)	PHKA2-related disorder [RCV003979142]	likely benign	X	18908917	18908917	Human		name , trait , alternate_id
405764331	CV3365313	single nucleotide variant	NM_000292.3(PHKA2):c.185G>A (p.Arg62His)	Inborn genetic diseases [RCV004501159]	uncertain significance	X	18954306	18954306	Human	1	name
597650484	CV3551896	single nucleotide variant	NM_000292.3(PHKA2):c.199C>G (p.Arg67Gly)	not provided [RCV004820609]	uncertain significance	X	18954292	18954292	Human		name
12847742	CV378079	single nucleotide variant	NM_000292.3(PHKA2):c.2670C>T (p.Leu890=)	Glycogen storage disease IXa1 [RCV002522452]\|not specified [RCV000444030]	likely benign	X	18906742	18906742	Human	1	name
12844483	CV379165	single nucleotide variant	NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)	Glycogen storage disease IXa1 [RCV000612357]\|not provided [RCV000659146]\|not specified [RCV000438064]	benign\|likely benign	X	18926514	18926514	Human	1	name
12840243	CV380011	single nucleotide variant	NM_000292.3(PHKA2):c.2568G>T (p.Pro856=)	Glycogen storage disease IXa1 [RCV002062468]\|PHKA2-related disorder [RCV003959897]\|not specified [RCV000430327]	benign\|likely benign	X	18907047	18907047	Human	2	name , trait , alternate_id
597856869	CV3822181	single nucleotide variant	NM_000292.3(PHKA2):c.1107G>T (p.Val369=)	Glycogen storage disease IXa1 [RCV005174479]	likely benign	X	18936085	18936085	Human	1	name
597932231	CV3837990	single nucleotide variant	NM_000292.3(PHKA2):c.1653C>T (p.Cys551=)	Glycogen storage disease IXa1 [RCV005185959]	likely benign	X	18924442	18924442	Human	1	name
597885906	CV3842244	single nucleotide variant	NM_000292.3(PHKA2):c.199C>A (p.Arg67Ser)	Glycogen storage disease IXa1 [RCV005178879]	uncertain significance	X	18954292	18954292	Human	1	name
597965734	CV3848414	single nucleotide variant	NM_000292.3(PHKA2):c.2955C>T (p.His985=)	Glycogen storage disease IXa1 [RCV005194294]	likely benign	X	18901557	18901557	Human	1	name
597899686	CV3854706	single nucleotide variant	NM_000292.3(PHKA2):c.1980T>C (p.Leu660=)	Glycogen storage disease IXa1 [RCV005201814]	likely benign	X	18918838	18918838	Human	1	name
598249019	CV3996649	single nucleotide variant	NM_000292.3(PHKA2):c.224A>C (p.Tyr75Ser)	Inborn genetic diseases [RCV005384403]	uncertain significance	X	18954267	18954267	Human	1	name
13508829	CV481444	single nucleotide variant	NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser)	Glycogen storage disease IXa1 [RCV000578399]	likely pathogenic	X	18954363	18954363	Human	1	name
13533086	CV508125	single nucleotide variant	NM_000292.3(PHKA2):c.2760C>T (p.Ile920=)	not specified [RCV000601563]	likely benign	X	18906541	18906541	Human		name
13541025	CV508128	single nucleotide variant	NM_000292.3(PHKA2):c.1767A>G (p.Leu589=)	Glycogen storage disease IXa1 [RCV002531571]\|PHKA2-related disorder [RCV003917930]\|not specified [RCV000615559]	benign\|likely benign	X	18924082	18924082	Human	2	name , trait , alternate_id
13535146	CV508497	single nucleotide variant	NM_000292.3(PHKA2):c.2172T>C (p.Ser724=)	Glycogen storage disease IXa1 [RCV002531671]\|PHKA2-related disorder [RCV003945550]\|not specified [RCV000602136]	benign\|likely benign	X	18910926	18910926	Human	2	name , trait , alternate_id
13535803	CV508498	single nucleotide variant	NM_000292.3(PHKA2):c.1363T>C (p.Leu455=)	not provided [RCV001718929]	likely benign	X	18926549	18926549	Human		name
13539929	CV508627	single nucleotide variant	NM_000292.3(PHKA2):c.2313G>A (p.Ser771=)	not specified [RCV000613966]	likely benign	X	18908848	18908848	Human		name
14708011	CV649921	single nucleotide variant	NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)	Glycogen storage disease IXa1 [RCV000808960]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	18954357	18954357	Human	1	name
14723870	CV649922	single nucleotide variant	NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)	Glycogen storage disease IXa1 [RCV000798144]\|not provided [RCV002272360]	pathogenic\|likely pathogenic	X	18954358	18954358	Human	1	name
14708544	CV656758	single nucleotide variant	NM_000292.3(PHKA2):c.2556C>T (p.Thr852=)	not provided [RCV000827182]	likely benign	X	18907059	18907059	Human		name
15196366	CV758422	single nucleotide variant	NM_000292.3(PHKA2):c.1896C>T (p.Ser632=)	Glycogen storage disease IXa1 [RCV000911676]\|not provided [RCV004714156]	benign	X	18920099	18920099	Human	1	name
15156648	CV758423	single nucleotide variant	NM_000292.3(PHKA2):c.1333T>C (p.Leu445=)	not provided [RCV000924710]	likely benign	X	18926579	18926579	Human		name
15196895	CV773946	single nucleotide variant	NM_000292.3(PHKA2):c.2004G>A (p.Leu668=)	not provided [RCV000934349]	likely benign	X	18918814	18918814	Human		name
15116016	CV773947	single nucleotide variant	NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=)	Glycogen storage disease IXa1 [RCV001478680]	likely benign	X	18918829	18918829	Human	1	name
21075016	CV798810	single nucleotide variant	NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter)	Glycogen storage disease IXa1 [RCV000995833]	pathogenic	X	18954256	18954256	Human	1	name
126753291	CV1014863	single nucleotide variant	NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)	Glycogen storage disease IXa1 [RCV001327258]	pathogenic\|uncertain significance	X	18940020	18940020	Human	1	name
126917727	CV1052377	single nucleotide variant	NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)	Glycogen storage disease IXa1 [RCV001372239]\|not provided [RCV003458034]	likely pathogenic\|uncertain significance	X	18940015	18940015	Human	1	name
127300696	CV1129589	single nucleotide variant	NM_000292.3(PHKA2):c.3492G>T (p.Val1164=)	Glycogen storage disease IXa1 [RCV001453957]	likely benign	X	18894249	18894249	Human	1	name
150547578	CV1292085	single nucleotide variant	NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)	Glycogen storage disease IXa1 [RCV001733751]	uncertain significance	X	18948808	18948808	Human	1	name
151756395	CV1365637	single nucleotide variant	NM_000292.3(PHKA2):c.308A>G (p.Lys103Arg)	Glycogen storage disease IXa1 [RCV001872757]	uncertain significance	X	18951250	18951250	Human	1	name
151715590	CV1434852	single nucleotide variant	NM_000292.3(PHKA2):c.448G>A (p.Ala150Thr)	Glycogen storage disease IXa1 [RCV001890275]	uncertain significance	X	18951110	18951110	Human	1	name
151730876	CV1489602	single nucleotide variant	NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser)	Glycogen storage disease IXa1 [RCV001910857]\|not provided [RCV003481166]	uncertain significance	X	18941608	18941608	Human	1	name
151865449	CV1495109	single nucleotide variant	NM_000292.3(PHKA2):c.740C>G (p.Pro247Arg)	Glycogen storage disease IXa1 [RCV001980660]	uncertain significance	X	18941653	18941653	Human	1	name
151872812	CV1513556	single nucleotide variant	NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg)	Glycogen storage disease IXa1 [RCV001940035]	likely pathogenic\|uncertain significance	X	18945137	18945137	Human	1	name
151872817	CV1513558	single nucleotide variant	NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr)	Glycogen storage disease IXa1 [RCV001940036]\|not provided [RCV003320856]\|not specified [RCV002222743]	uncertain significance	X	18948746	18948746	Human	1	name
152112594	CV1541918	single nucleotide variant	NM_000292.3(PHKA2):c.3567G>A (p.Glu1189=)	Glycogen storage disease IXa1 [RCV002116751]	likely benign	X	18893626	18893626	Human	1	name
152087631	CV1608563	single nucleotide variant	NM_000292.3(PHKA2):c.3690G>C (p.Ser1230=)	Glycogen storage disease IXa1 [RCV002212269]	likely benign	X	18893503	18893503	Human	1	name
152054331	CV1609979	single nucleotide variant	NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=)	Glycogen storage disease IXa1 [RCV002167248]\|PHKA2-related disorder [RCV003941301]	benign\|likely benign	X	18895147	18895147	Human	2	name , trait , alternate_id
152979253	CV1675433	single nucleotide variant	NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg)	Glycogen storage disease IXa1 [RCV002243544]	uncertain significance	X	18941621	18941621	Human	1	name
152982488	CV1677420	single nucleotide variant	NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro)	Glycogen storage disease IXa1 [RCV002249129]	likely pathogenic	X	18945139	18945139	Human	1	name
153349799	CV1693983	single nucleotide variant	NM_000292.3(PHKA2):c.560G>A (p.Gly187Glu)	not provided [RCV002276219]	likely pathogenic\|uncertain significance	X	18945136	18945136	Human		name
155265709	CV1695587	single nucleotide variant	NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter)	Glycogen storage disease IXa1 [RCV002280319]	pathogenic\|likely pathogenic	X	18940021	18940021	Human	1	name
155643270	CV1707758	single nucleotide variant	NM_000292.3(PHKA2):c.721A>C (p.Ile241Leu)	Glycogen storage disease IXa1 [RCV002289219]	uncertain significance	X	18941672	18941672	Human	1	name
155803679	CV1858244	single nucleotide variant	NM_000292.3(PHKA2):c.524C>T (p.Ala175Val)	not provided [RCV002462553]	uncertain significance	X	18948757	18948757	Human		name
155795421	CV1861288	single nucleotide variant	NM_000292.3(PHKA2):c.770C>G (p.Ala257Gly)	Inborn genetic diseases [RCV005382419]\|not provided [RCV002469570]	uncertain significance	X	18941623	18941623	Human	1	name
155796180	CV1861686	single nucleotide variant	NM_000292.3(PHKA2):c.993T>G (p.Phe331Leu)	not provided [RCV003222433]\|not specified [RCV002469967]	uncertain significance	X	18938675	18938675	Human		name
155935651	CV1916421	single nucleotide variant	NM_000292.3(PHKA2):c.3492G>A (p.Val1164=)	Glycogen storage disease IXa1 [RCV002615285]	likely benign	X	18894249	18894249	Human	1	name
10053368	CV196168	single nucleotide variant	NM_000292.3(PHKA2):c.899G>A (p.Gly300Asp)	not provided [RCV000180487]	uncertain significance	X	18940014	18940014	Human		name
10401326	CV205027	single nucleotide variant	NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)	Glycogen phosphorylase kinase deficiency [RCV004767127]\|Glycogen storage disease IXa1 [RCV000190506]	pathogenic\|likely pathogenic	X	18940030	18940030	Human	2	name
10401495	CV205340	single nucleotide variant	NM_000292.3(PHKA2):c.884G>A (p.Arg295His)	Glycogen storage disease IXa1 [RCV000694745]\|Glycogen storage disease IXd [RCV003328098]\|Inborn genetic diseases [RCV000190690]	pathogenic\|likely pathogenic\|not provided	X	18940029	18940029	Human	3	name
156236394	CV2118439	single nucleotide variant	NM_000292.3(PHKA2):c.3159G>A (p.Ser1053=)	Glycogen storage disease IXa1 [RCV002958707]	likely benign	X	18897286	18897286	Human	1	name
156298908	CV2119384	single nucleotide variant	NM_000292.3(PHKA2):c.3507G>A (p.Gln1169=)	Glycogen storage disease IXa1 [RCV002962048]	likely benign	X	18894234	18894234	Human	1	name
156313224	CV2196476	single nucleotide variant	NM_000292.3(PHKA2):c.604G>A (p.Val202Ile)	Inborn genetic diseases [RCV002648346]\|not provided [RCV005242312]	likely benign	X	18945092	18945092	Human	1	name
155925448	CV2258539	single nucleotide variant	NM_000292.3(PHKA2):c.985C>T (p.Pro329Ser)	Inborn genetic diseases [RCV002773574]	uncertain significance	X	18938683	18938683	Human	1	name
156057262	CV2308998	single nucleotide variant	NM_000292.3(PHKA2):c.671G>T (p.Arg224Leu)	Inborn genetic diseases [RCV002911560]	uncertain significance	X	18943756	18943756	Human	1	name
156150379	CV2359605	single nucleotide variant	NM_000292.3(PHKA2):c.460C>T (p.Arg154Cys)	Inborn genetic diseases [RCV003004514]\|not provided [RCV003457206]	uncertain significance	X	18948821	18948821	Human	1	name
243059346	CV2406009	single nucleotide variant	NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)	Glycogen storage disease IXa1 [RCV003134827]	uncertain significance	X	18948793	18948793	Human	1	name
243059348	CV2406011	single nucleotide variant	NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)	Glycogen storage disease IXa1 [RCV003134829]	uncertain significance	X	18938709	18938709	Human	1	name
329353450	CV2477099	single nucleotide variant	NM_000292.3(PHKA2):c.901T>C (p.Tyr301His)	Inborn genetic diseases [RCV005382615]\|not provided [RCV003223331]	uncertain significance	X	18940012	18940012	Human	1	name
8598513	CV25573	single nucleotide variant	NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly)	Glycogen storage disease IXa1 [RCV000011280]	pathogenic	X	18940017	18940017	Human	1	name
8598514	CV25574	single nucleotide variant	NM_000292.3(PHKA2):c.557G>A (p.Arg186His)	Glycogen storage disease IXa1 [RCV000631189]\|Glycogen storage disease IXa2 [RCV000011281]	pathogenic\|likely pathogenic	X	18945139	18945139	Human	1	name
8598515	CV25575	single nucleotide variant	NM_000292.3(PHKA2):c.395A>C (p.His132Pro)	Glycogen storage disease IXa1 [RCV002247324]\|Glycogen storage disease IXa2 [RCV000011282]	pathogenic	X	18951163	18951163	Human	1	name
8598516	CV25576	single nucleotide variant	NM_000292.3(PHKA2):c.394C>T (p.His132Tyr)	Glycogen storage disease IXa1 [RCV001333356]\|Glycogen storage disease IXa2 [RCV000011283]	pathogenic	X	18951164	18951164	Human	1	name
8598517	CV25577	single nucleotide variant	NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)	Glycogen storage disease IXa1 [RCV000768040]\|Glycogen storage disease IXa2 [RCV000011284]\|not provided [RCV001565774]	pathogenic\|likely pathogenic	X	18945140	18945140	Human	1	name
8598518	CV25580	single nucleotide variant	NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu)	Glycogen storage disease IXa1 [RCV001781216]\|Glycogen storage disease IXa2 [RCV000011287]	pathogenic\|likely pathogenic	X	18945131	18945131	Human	1	name
11544765	CV257794	single nucleotide variant	NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=)	Glycogen storage disease IXa1 [RCV000958311]\|not provided [RCV004713439]\|not specified [RCV000244227]	benign	X	18893488	18893488	Human	1	name
11633386	CV265037	deletion	NM_000292.3(PHKA2):c.2672del (p.Thr891fs)	not provided [RCV000335824]	pathogenic	X	18906740	18906740	Human		name
401723446	CV2737830	single nucleotide variant	NM_000292.3(PHKA2):c.340G>A (p.Ala114Thr)	not provided [RCV003315002]	uncertain significance	X	18951218	18951218	Human		name
401828708	CV2743043	single nucleotide variant	NM_000292.3(PHKA2):c.3027G>A (p.Gln1009=)	not provided [RCV003325751]	uncertain significance	X	18901485	18901485	Human		name
401887776	CV2772188	single nucleotide variant	NM_000292.3(PHKA2):c.944C>G (p.Pro315Arg)	Inborn genetic diseases [RCV003352572]	likely benign	X	18938724	18938724	Human	1	name
401902792	CV2799601	single nucleotide variant	NM_000292.3(PHKA2):c.808G>A (p.Val270Met)	PHKA2-related disorder [RCV003419050]	uncertain significance	X	18941585	18941585	Human		name , trait , alternate_id
401931146	CV2821307	single nucleotide variant	NM_000292.3(PHKA2):c.382G>A (p.Asp128Asn)	Inborn genetic diseases [RCV004961311]\|not provided [RCV003441106]	uncertain significance	X	18951176	18951176	Human	1	name
401944922	CV2840737	single nucleotide variant	NM_000292.3(PHKA2):c.3453G>C (p.Ser1151=)	not provided [RCV003457588]	likely benign	X	18894288	18894288	Human		name
405011061	CV2901793	single nucleotide variant	NM_000292.3(PHKA2):c.538G>A (p.Asp180Asn)	Glycogen storage disease IXa1 [RCV003527235]	uncertain significance	X	18945158	18945158	Human	1	name
405011865	CV2906391	single nucleotide variant	NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)	Glycogen storage disease IXa1 [RCV003527336]\|PHKA2-related disorder [RCV003966527]	benign\|likely benign	X	18894339	18894339	Human	2	name , trait , alternate_id
405001076	CV2914701	single nucleotide variant	NM_000292.3(PHKA2):c.509T>C (p.Phe170Ser)	Glycogen storage disease IXa1 [RCV003526312]	uncertain significance	X	18948772	18948772	Human	1	name
405003163	CV2923094	deletion	NM_000292.3(PHKA2):c.1502del (p.His501fs)	Glycogen storage disease IXa1 [RCV003526524]	pathogenic	X	18925735	18925735	Human	1	name
405188829	CV3028740	single nucleotide variant	NM_000292.3(PHKA2):c.3615G>C (p.Pro1205=)	Glycogen storage disease IXa1 [RCV003640562]	likely benign	X	18893578	18893578	Human	1	name
405200888	CV3066425	single nucleotide variant	NM_000292.3(PHKA2):c.547A>G (p.Met183Val)	Glycogen storage disease IXa1 [RCV003642176]	uncertain significance	X	18945149	18945149	Human	1	name
405204204	CV3116839	single nucleotide variant	NM_000292.3(PHKA2):c.3357G>A (p.Lys1119=)	Glycogen storage disease IXa1 [RCV003822323]	likely benign	X	18894384	18894384	Human	1	name
405711351	CV3225886	single nucleotide variant	NM_000292.3(PHKA2):c.586G>A (p.Glu196Lys)	Glycogen storage disease IXa1 [RCV003990945]	uncertain significance	X	18945110	18945110	Human	1	name
596931376	CV3531712	single nucleotide variant	NM_000292.3(PHKA2):c.918G>T (p.Glu306Asp)	not provided [RCV004781274]	uncertain significance	X	18939995	18939995	Human		name
596927942	CV3540092	single nucleotide variant	NM_000292.3(PHKA2):c.348C>A (p.Tyr116Ter)	not provided [RCV004791084]	pathogenic	X	18951210	18951210	Human		name
597714423	CV3569015	single nucleotide variant	NM_000292.3(PHKA2):c.985C>A (p.Pro329Thr)	Inborn genetic diseases [RCV004959574]	uncertain significance	X	18938683	18938683	Human	1	name
12837527	CV378058	single nucleotide variant	NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)	Glycogen storage disease IXa1 [RCV000924481]\|not provided [RCV004703960]\|not specified [RCV000425320]	benign\|likely benign	X	18897202	18897202	Human	1	name
12844789	CV378078	single nucleotide variant	NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=)	Glycogen storage disease IXa1 [RCV000970563]\|PHKA2-related disorder [RCV003902552]\|not provided [RCV004713964]\|not specified [RCV000438612]	benign\|likely benign	X	18897258	18897258	Human	2	name , trait , alternate_id
12844651	CV379273	single nucleotide variant	NM_000292.3(PHKA2):c.3345G>A (p.Pro1115=)	not specified [RCV000438371]	likely benign	X	18894396	18894396	Human		name
597966408	CV3794007	single nucleotide variant	NM_000292.3(PHKA2):c.391G>A (p.Gly131Ser)	Glycogen storage disease IXa1 [RCV005140389]	uncertain significance	X	18951167	18951167	Human	1	name
597961151	CV3794833	single nucleotide variant	NM_000292.3(PHKA2):c.3624T>G (p.Ala1208=)	Glycogen storage disease IXa1 [RCV005138738]	likely benign	X	18893569	18893569	Human	1	name
597971416	CV3802568	single nucleotide variant	NM_000292.3(PHKA2):c.3474C>T (p.Ile1158=)	Glycogen storage disease IXa1 [RCV005142166]	likely benign	X	18894267	18894267	Human	1	name
597888842	CV3839500	single nucleotide variant	NM_000292.3(PHKA2):c.3111G>A (p.Ala1037=)	Glycogen storage disease IXa1 [RCV005179392]	uncertain significance	X	18899173	18899173	Human	1	name
597944330	CV3847860	single nucleotide variant	NM_000292.3(PHKA2):c.3174C>T (p.Ile1058=)	Glycogen storage disease IXa1 [RCV005188589]	likely benign	X	18897271	18897271	Human	1	name
597880494	CV3857309	single nucleotide variant	NM_000292.3(PHKA2):c.899G>T (p.Gly300Val)	Glycogen storage disease IXa1 [RCV005198916]	uncertain significance	X	18940014	18940014	Human	1	name
597880502	CV3857310	single nucleotide variant	NM_000292.3(PHKA2):c.392G>T (p.Gly131Val)	Glycogen storage disease IXa1 [RCV005198917]	uncertain significance	X	18951166	18951166	Human	1	name
598249025	CV3996650	single nucleotide variant	NM_000292.3(PHKA2):c.314C>T (p.Thr105Ile)	Inborn genetic diseases [RCV005384404]	uncertain significance	X	18951244	18951244	Human	1	name
598197229	CV3996652	single nucleotide variant	NM_000292.3(PHKA2):c.487G>A (p.Ala163Thr)	Inborn genetic diseases [RCV005397842]	uncertain significance	X	18948794	18948794	Human	1	name
13445704	CV438435	deletion	NM_000292.3(PHKA2):c.2395del (p.His799fs)	not provided [RCV000512755]	likely pathogenic	X	18908022	18908022	Human		name
13541550	CV508001	single nucleotide variant	NM_000292.3(PHKA2):c.3132G>A (p.Ser1044=)	not specified [RCV000616317]	likely benign	X	18897313	18897313	Human		name
13534857	CV508106	single nucleotide variant	NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=)	Glycogen storage disease IXa1 [RCV003640921]\|PHKA2-related disorder [RCV003945535]\|not specified [RCV000607460]	likely benign	X	18893578	18893578	Human	2	name , trait , alternate_id
13538173	CV508501	single nucleotide variant	NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala)	Glycogen storage disease IXa1 [RCV000966461]\|PHKA2-related disorder [RCV003928022]\|not specified [RCV000611437]	benign\|likely benign	X	18948809	18948809	Human	2	name , trait , alternate_id
13534391	CV513163	single nucleotide variant	NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro)	Glycogen storage disease IXa1 [RCV000625643]	likely pathogenic	X	18951143	18951143	Human	1	name
13787572	CV549828	duplication	NM_000292.3(PHKA2):c.2433dup (p.Gly812fs)	Glycogen storage disease IXa1 [RCV003319398]\|not provided [RCV000675941]	likely pathogenic	X	18907983	18907984	Human	1	name
13808092	CV573764	deletion	NM_000292.3(PHKA2):c.2465del (p.Leu822fs)	Glycogen storage disease IXa1 [RCV000701470]	pathogenic	X	18907952	18907952	Human	1	name
14720417	CV649918	single nucleotide variant	NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)	Glycogen storage disease IXa1 [RCV000796625]	uncertain significance	X	18938691	18938691	Human	1	name
14715054	CV649919	single nucleotide variant	NM_000292.3(PHKA2):c.721A>G (p.Ile241Val)	Glycogen storage disease IXa1 [RCV000811096]\|not provided [RCV004812369]\|not specified [RCV005056587]	likely pathogenic\|uncertain significance	X	18941672	18941672	Human	1	name
14703463	CV649920	single nucleotide variant	NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn)	Glycogen storage disease IXa1 [RCV000807388]	uncertain significance	X	18951212	18951212	Human	1	name
15102554	CV706185	single nucleotide variant	NM_000292.3(PHKA2):c.3069G>A (p.Val1023=)	Glycogen storage disease IXa1 [RCV000959310]\|PHKA2-related disorder [RCV003905800]	benign	X	18899215	18899215	Human	2	name , trait , alternate_id
15149459	CV758419	single nucleotide variant	NM_000292.3(PHKA2):c.3522G>A (p.Leu1174=)	not provided [RCV000923290]	likely benign	X	18894219	18894219	Human		name
15109725	CV758420	single nucleotide variant	NM_000292.3(PHKA2):c.3444G>A (p.Thr1148=)	not provided [RCV000916392]	likely benign	X	18894297	18894297	Human		name
15121626	CV758421	single nucleotide variant	NM_000292.3(PHKA2):c.3189G>T (p.Arg1063=)	Glycogen storage disease IXa1 [RCV002542156]	likely benign	X	18897256	18897256	Human	1	name
15120375	CV786773	single nucleotide variant	NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=)	Glycogen storage disease IXa1 [RCV001398058]	likely benign	X	18895144	18895144	Human	1	name
21073346	CV792199	single nucleotide variant	NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu)	Glycogen storage disease IXa1 [RCV000990495]\|not provided [RCV003236852]	likely pathogenic\|uncertain significance	X	18940029	18940029	Human	1	name
21070404	CV798250	single nucleotide variant	NM_000292.3(PHKA2):c.875G>A (p.Gly292Glu)	not provided [RCV000999344]	uncertain significance	X	18940038	18940038	Human		name
25318027	CV806181	duplication	NM_000292.3(PHKA2):c.1144dup (p.Glu382fs)	PHKA2-related disorder [RCV003898030]\|not provided [RCV001008374]	likely pathogenic	X	18931741	18931742	Human	1	name , trait , alternate_id
28882768	CV860824	single nucleotide variant	NM_000292.3(PHKA2):c.400C>T (p.Gln134Ter)	not provided [RCV001091313]	pathogenic	X	18951158	18951158	Human		name
38460952	CV920002	single nucleotide variant	NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)	Glycogen storage disease IXa1 [RCV001197079]	uncertain significance	X	18941644	18941644	Human	1	name
38464717	CV961550	single nucleotide variant	NM_000292.3(PHKA2):c.869G>A (p.Arg290His)	Glycogen storage disease IXa1 [RCV001249715]\|not provided [RCV005232220]	uncertain significance	X	18940044	18940044	Human	1	name
126729938	CV999718	single nucleotide variant	NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)	Glycogen storage disease IXa1 [RCV001296044]	uncertain significance	X	18945141	18945141	Human	1	name
126730032	CV999719	single nucleotide variant	NM_000292.3(PHKA2):c.395A>G (p.His132Arg)	Glycogen storage disease IXa1 [RCV001303128]	uncertain significance	X	18951163	18951163	Human	1	name
126754078	CV1014862	single nucleotide variant	NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)	Glycogen storage disease IXa1 [RCV001327428]	uncertain significance	X	18907914	18907914	Human	1	name
126726328	CV1035445	single nucleotide variant	NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)	Glycogen storage disease IXa1 [RCV001348423]\|Inborn genetic diseases [RCV004960837]	likely benign\|uncertain significance	X	18920068	18920068	Human	2	name
126922515	CV1052375	single nucleotide variant	NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)	Glycogen storage disease IXa1 [RCV001364761]	uncertain significance	X	18905802	18905802	Human	1	name
126918779	CV1052376	single nucleotide variant	NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)	Glycogen storage disease IXa1 [RCV001361924]	uncertain significance	X	18936132	18936132	Human	1	name
127241390	CV1065263	deletion	NM_000292.3(PHKA2):c.3325del (p.Thr1109fs)	Glycogen storage disease IXa1 [RCV001383641]	pathogenic	X	18895149	18895149	Human	1	name
150334701	CV1166443	single nucleotide variant	NM_000292.3(PHKA2):c.2819C>T (p.Ser940Phe)	not provided [RCV001531134]	uncertain significance	X	18905847	18905847	Human		name
150531600	CV1301964	single nucleotide variant	NM_000292.3(PHKA2):c.2478C>G (p.Ile826Met)	not provided [RCV001757181]	uncertain significance	X	18907939	18907939	Human		name
150554475	CV1304176	single nucleotide variant	NM_000292.3(PHKA2):c.2389G>A (p.Gly797Arg)	not provided [RCV001771146]	uncertain significance	X	18908028	18908028	Human		name
150543676	CV1309714	single nucleotide variant	NM_000292.3(PHKA2):c.2272G>A (p.Val758Met)	not provided [RCV003237465]	uncertain significance	X	18908889	18908889	Human		name
150543678	CV1309715	single nucleotide variant	NM_000292.3(PHKA2):c.1460G>A (p.Gly487Glu)	not provided [RCV003237466]	uncertain significance	X	18925777	18925777	Human		name
151353561	CV1326724	single nucleotide variant	NM_000292.3(PHKA2):c.2789G>A (p.Arg930Gln)	Glycogen storage disease IXa1 [RCV003641001]\|Inborn genetic diseases [RCV003264106]\|not provided [RCV001816527]	uncertain significance	X	18906512	18906512	Human	2	name
151844018	CV1339408	single nucleotide variant	NM_000292.3(PHKA2):c.2665G>A (p.Val889Ile)	Glycogen storage disease IXa1 [RCV001978047]\|Inborn genetic diseases [RCV003375514]	uncertain significance	X	18906747	18906747	Human	2	name
151781190	CV1363983	single nucleotide variant	NM_000292.3(PHKA2):c.2203T>G (p.Ser735Ala)	Glycogen storage disease IXa1 [RCV001864980]\|Inborn genetic diseases [RCV004953187]	likely benign\|uncertain significance	X	18910895	18910895	Human	2	name
151842982	CV1379792	single nucleotide variant	NM_000292.3(PHKA2):c.2161A>G (p.Lys721Glu)	Glycogen storage disease IXa1 [RCV001936343]	uncertain significance	X	18910937	18910937	Human	1	name
151823732	CV1412300	single nucleotide variant	NM_000292.3(PHKA2):c.2462G>T (p.Gly821Val)	Glycogen storage disease IXa1 [RCV001901137]	uncertain significance	X	18907955	18907955	Human	1	name
151773791	CV1417196	single nucleotide variant	NM_000292.3(PHKA2):c.1889A>G (p.Asn630Ser)	Glycogen storage disease IXa1 [RCV001971434]	likely benign\|uncertain significance	X	18920106	18920106	Human	1	name
151841887	CV1435975	single nucleotide variant	NM_000292.3(PHKA2):c.2407G>A (p.Val803Ile)	Glycogen storage disease IXa1 [RCV001956855]\|See cases [RCV002252742]	uncertain significance	X	18908010	18908010	Human	1	name
151849512	CV1451939	single nucleotide variant	NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn)	Glycogen storage disease IXa1 [RCV002016383]	conflicting interpretations of pathogenicity\|uncertain significance	X	18924492	18924492	Human	1	name
151785046	CV1454774	single nucleotide variant	NM_000292.3(PHKA2):c.2614G>T (p.Glu872Ter)	Glycogen storage disease IXa1 [RCV001972447]	pathogenic	X	18906798	18906798	Human	1	name
151762337	CV1456040	single nucleotide variant	NM_000292.3(PHKA2):c.1775G>T (p.Gly592Val)	Glycogen storage disease IXa1 [RCV002044428]	uncertain significance	X	18924074	18924074	Human	1	name
151840149	CV1462920	single nucleotide variant	NM_000292.3(PHKA2):c.1561A>G (p.Thr521Ala)	Glycogen storage disease IXa1 [RCV002031723]\|not specified [RCV004801137]	uncertain significance	X	18925676	18925676	Human	1	name
151770972	CV1483302	single nucleotide variant	NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg)	Glycogen storage disease IXa1 [RCV001914972]\|PHKA2-related disorder [RCV003407883]	uncertain significance	X	18924438	18924438	Human	2	name , trait , alternate_id
152981726	CV1677027	single nucleotide variant	NM_000292.3(PHKA2):c.1541G>A (p.Arg514Lys)	not specified [RCV002248095]	uncertain significance	X	18925696	18925696	Human		name
152981727	CV1677028	single nucleotide variant	NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)	Glycogen storage disease IXa1 [RCV003138121]\|not specified [RCV002248096]	uncertain significance	X	18925738	18925738	Human	1	name
152983244	CV1678072	single nucleotide variant	NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter)	Glycogen storage disease IXa1 [RCV002250227]	pathogenic	X	18931676	18931676	Human	1	name
153305435	CV1688528	single nucleotide variant	NM_000292.3(PHKA2):c.2084C>T (p.Ser695Phe)	not specified [RCV002266264]	uncertain significance	X	18918734	18918734	Human		name
153346011	CV1690916	single nucleotide variant	NM_000292.3(PHKA2):c.2606C>G (p.Pro869Arg)	Glycogen phosphorylase kinase deficiency [RCV002271816]	likely pathogenic	X	18906806	18906806	Human		name
155644156	CV1706946	single nucleotide variant	NM_000292.3(PHKA2):c.2868C>A (p.His956Gln)	not provided [RCV002290900]	uncertain significance	X	18905798	18905798	Human		name
155645107	CV1710587	single nucleotide variant	NM_000292.3(PHKA2):c.2836C>T (p.Leu946Phe)	not provided [RCV002293883]	uncertain significance	X	18905830	18905830	Human		name
155747201	CV1778464	single nucleotide variant	NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile)	Glycogen storage disease IXa1 [RCV002303632]	uncertain significance	X	18931718	18931718	Human	1	name
155801524	CV1866729	single nucleotide variant	NM_000292.3(PHKA2):c.1387C>T (p.Gln463Ter)	not provided [RCV002505940]	pathogenic	X	18926525	18926525	Human		name
155911781	CV1867413	single nucleotide variant	NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter)	Glycogen storage disease IXa1 [RCV002509887]	pathogenic	X	18918849	18918849	Human	1	name
156348722	CV1868637	single nucleotide variant	NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu)	Glycogen storage disease IXa1 [RCV003064674]\|not specified [RCV005239619]	uncertain significance	X	18906812	18906812	Human	1	name
156348734	CV1868638	single nucleotide variant	NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter)	Glycogen storage disease IXa1 [RCV003064675]	pathogenic	X	18931712	18931712	Human	1	name
156410229	CV1888352	single nucleotide variant	NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile)	Glycogen storage disease IXa1 [RCV003071984]\|Inborn genetic diseases [RCV003384321]	uncertain significance	X	18924440	18924440	Human	2	name
156127511	CV1889157	single nucleotide variant	NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile)	Glycogen storage disease IXa1 [RCV003081697]	uncertain significance	X	18901543	18901543	Human	1	name
156406914	CV1891455	single nucleotide variant	NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr)	Glycogen storage disease IXa1 [RCV003070551]	uncertain significance	X	18925745	18925745	Human	1	name
10411831	CV205516	single nucleotide variant	NM_000292.3(PHKA2):c.2951T>C (p.Ile984Thr)	Abnormality of neuronal migration [RCV000201393]	benign	X	18901561	18901561	Human	1	name
156226271	CV2115260	single nucleotide variant	NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp)	Glycogen storage disease IXa1 [RCV002918762]	uncertain significance	X	18925775	18925775	Human	1	name
156327246	CV2116129	single nucleotide variant	NM_000292.3(PHKA2):c.2578C>T (p.Arg860Trp)	Glycogen storage disease IXa1 [RCV002938158]	likely benign	X	18907037	18907037	Human	1	name
156098600	CV2117008	single nucleotide variant	NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)	Glycogen storage disease IXa1 [RCV002952651]\|PHKA2-related disorder [RCV003906354]\|not provided [RCV003435841]	benign\|likely benign	X	18910952	18910952	Human	2	name , trait , alternate_id
156027564	CV2125229	single nucleotide variant	NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg)	Glycogen storage disease IXa1 [RCV002949079]\|not provided [RCV003435846]	likely benign	X	18908019	18908019	Human	1	name
156248766	CV2168897	single nucleotide variant	NM_000292.3(PHKA2):c.1420C>T (p.Gln474Ter)	Glycogen storage disease IXa1 [RCV003026267]	pathogenic	X	18926492	18926492	Human	1	name
156035822	CV2208255	single nucleotide variant	NM_000292.3(PHKA2):c.2954A>T (p.His985Leu)	Inborn genetic diseases [RCV002691909]	benign	X	18901558	18901558	Human	1	name
156389757	CV2222696	single nucleotide variant	NM_000292.3(PHKA2):c.1539T>G (p.Ile513Met)	Inborn genetic diseases [RCV002724422]	uncertain significance	X	18925698	18925698	Human	1	name
156128162	CV2223887	single nucleotide variant	NM_000292.3(PHKA2):c.2590A>G (p.Ile864Val)	Inborn genetic diseases [RCV002708285]	uncertain significance	X	18907025	18907025	Human	1	name
156226519	CV2226462	single nucleotide variant	NM_000292.3(PHKA2):c.1070G>T (p.Gly357Val)	Inborn genetic diseases [RCV002767378]	uncertain significance	X	18936122	18936122	Human	1	name
156292053	CV2321180	single nucleotide variant	NM_000292.3(PHKA2):c.1607A>G (p.Asn536Ser)	Inborn genetic diseases [RCV002935686]	uncertain significance	X	18924488	18924488	Human	1	name
156346292	CV2382726	single nucleotide variant	NM_000292.3(PHKA2):c.1232C>T (p.Ser411Leu)	Glycogen storage disease IXa1 [RCV005099078]\|Inborn genetic diseases [RCV002675059]\|not provided [RCV004572833]	likely benign\|uncertain significance	X	18931654	18931654	Human	2	name
155933226	CV2399283	single nucleotide variant	NM_000292.3(PHKA2):c.1346A>G (p.Asn449Ser)	Inborn genetic diseases [RCV002774606]\|not provided [RCV003481444]	likely benign\|uncertain significance	X	18926566	18926566	Human	1	name
243059347	CV2406010	single nucleotide variant	NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)	Glycogen storage disease IXa1 [RCV003134828]	uncertain significance	X	18918843	18918843	Human	1	name
243051373	CV2415848	single nucleotide variant	NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)	Glycogen storage disease IXa1 [RCV003148464]	uncertain significance	X	18924092	18924092	Human	1	name
329396244	CV2462455	single nucleotide variant	NM_000292.3(PHKA2):c.1756A>G (p.Ile586Val)	Inborn genetic diseases [RCV003194866]	uncertain significance	X	18924093	18924093	Human	1	name
329848489	CV2523154	single nucleotide variant	NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)	Glycogen storage disease IXa1 [RCV003224913]	likely pathogenic	X	18908912	18908912	Human	1	name
8598509	CV25567	single nucleotide variant	NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter)	Glycogen storage disease IXa1 [RCV000011274]	pathogenic	X	18908865	18908865	Human	1	name
11542871	CV257800	single nucleotide variant	NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)	Glycogen storage disease IXa1 [RCV001081468]\|not provided [RCV000675943]\|not specified [RCV000241709]	benign\|likely benign	X	18918741	18918741	Human	1	name
11550288	CV257801	single nucleotide variant	NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn)	Glycogen storage disease IXa1 [RCV001079245]\|not provided [RCV000435963]\|not specified [RCV000251550]	benign	X	18920043	18920043	Human	1	name
401781316	CV2681963	single nucleotide variant	NM_000292.3(PHKA2):c.1219T>C (p.Tyr407His)	Inborn genetic diseases [RCV003265191]	likely benign	X	18931667	18931667	Human	1	name
11639499	CV268574	single nucleotide variant	NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr)	Glycogen storage disease IXa1 [RCV002059152]\|Inborn genetic diseases [RCV004021159]\|not specified [RCV000320935]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	18926516	18926516	Human	2	name
401734379	CV2690570	single nucleotide variant	NM_000292.3(PHKA2):c.2060G>T (p.Arg687Leu)	Inborn genetic diseases [RCV003249470]	uncertain significance	X	18918758	18918758	Human	1	name
401771169	CV2700907	single nucleotide variant	NM_000292.3(PHKA2):c.1032T>G (p.Asp344Glu)	Inborn genetic diseases [RCV003261366]	uncertain significance	X	18938636	18938636	Human	1	name
401721088	CV2702259	single nucleotide variant	NM_000292.3(PHKA2):c.2540A>G (p.His847Arg)	Inborn genetic diseases [RCV003267462]	uncertain significance	X	18907075	18907075	Human	1	name
401721477	CV2709978	single nucleotide variant	NM_000292.3(PHKA2):c.1207G>T (p.Gly403Cys)	Inborn genetic diseases [RCV003267598]	uncertain significance	X	18931679	18931679	Human	1	name
401725515	CV2721808	single nucleotide variant	NM_000292.3(PHKA2):c.2880T>A (p.Ser960Arg)	Inborn genetic diseases [RCV003269006]	uncertain significance	X	18905786	18905786	Human	1	name
401856625	CV2752612	single nucleotide variant	NM_000292.3(PHKA2):c.1153A>G (p.Lys385Glu)	Glycogen storage disease IXa1 [RCV003340950]	uncertain significance	X	18931733	18931733	Human	1	name
401906374	CV2799866	single nucleotide variant	NM_000292.3(PHKA2):c.1505T>C (p.Ile502Thr)	PHKA2-related disorder [RCV003421172]	uncertain significance	X	18925732	18925732	Human		name , trait , alternate_id
401931144	CV2821305	single nucleotide variant	NM_000292.3(PHKA2):c.1138G>A (p.Val380Ile)	not provided [RCV003441104]	uncertain significance	X	18931748	18931748	Human		name
401912765	CV2829985	single nucleotide variant	NM_000292.3(PHKA2):c.2765A>C (p.Gln922Pro)	not provided [RCV003441199]	uncertain significance	X	18906536	18906536	Human		name
401914013	CV2830519	single nucleotide variant	NM_000292.3(PHKA2):c.2623A>G (p.Lys875Glu)	not provided [RCV003442257]	uncertain significance	X	18906789	18906789	Human		name
401942088	CV2839477	single nucleotide variant	NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)	Glycogen storage disease IXa1 [RCV003456318]	uncertain significance	X	18905772	18905772	Human	1	name
404997410	CV2875223	single nucleotide variant	NM_000292.3(PHKA2):c.2257G>A (p.Asp753Asn)	Glycogen storage disease IXa1 [RCV003525790]	likely benign	X	18908904	18908904	Human	1	name
405013566	CV2912073	single nucleotide variant	NM_000292.3(PHKA2):c.1081A>G (p.Arg361Gly)	Glycogen storage disease IXa1 [RCV003527500]	uncertain significance	X	18936111	18936111	Human	1	name
405014751	CV2919440	single nucleotide variant	NM_000292.3(PHKA2):c.2802C>G (p.Cys934Trp)	Glycogen storage disease IXa1 [RCV003527590]\|PHKA2-related disorder [RCV003966534]	likely benign	X	18906499	18906499	Human	2	name , trait , alternate_id
405000566	CV2920290	single nucleotide variant	NM_000292.3(PHKA2):c.1519A>G (p.Thr507Ala)	Glycogen storage disease IXa1 [RCV003526254]	uncertain significance	X	18925718	18925718	Human	1	name
405193774	CV2945490	single nucleotide variant	NM_000292.3(PHKA2):c.2401G>T (p.Val801Phe)	Glycogen storage disease IXa1 [RCV003641194]	uncertain significance	X	18908016	18908016	Human	1	name
405197434	CV2994323	single nucleotide variant	NM_000292.3(PHKA2):c.1121C>T (p.Ala374Val)	Glycogen storage disease IXa1 [RCV003641690]	uncertain significance	X	18936071	18936071	Human	1	name
405273799	CV3198257	single nucleotide variant	NM_000292.3(PHKA2):c.1811T>C (p.Leu604Pro)	PHKA2-related disorder [RCV003902026]	uncertain significance	X	18920184	18920184	Human		name , trait , alternate_id
405281527	CV3224188	single nucleotide variant	NM_000292.3(PHKA2):c.1787G>A (p.Gly596Glu)	Inborn genetic diseases [RCV004953669]\|not specified [RCV003988570]	uncertain significance	X	18924062	18924062	Human	1	name
405764319	CV3365311	single nucleotide variant	NM_000292.3(PHKA2):c.1636G>A (p.Glu546Lys)	Inborn genetic diseases [RCV004501157]	likely benign	X	18924459	18924459	Human	1	name
405764326	CV3365312	single nucleotide variant	NM_000292.3(PHKA2):c.1744G>A (p.Val582Met)	Inborn genetic diseases [RCV004501158]	uncertain significance	X	18924105	18924105	Human	1	name
405764337	CV3365314	single nucleotide variant	NM_000292.3(PHKA2):c.2851A>G (p.Met951Val)	Inborn genetic diseases [RCV004501160]	likely benign	X	18905815	18905815	Human	1	name
407428481	CV3410239	single nucleotide variant	NM_000292.3(PHKA2):c.2972G>C (p.Gly991Ala)	not specified [RCV004587846]	uncertain significance	X	18901540	18901540	Human		name
407475276	CV3414338	single nucleotide variant	NM_000292.3(PHKA2):c.1661G>A (p.Trp554Ter)	Glycogen storage disease IXa1 [RCV004596674]	pathogenic	X	18924434	18924434	Human	1	name
407529214	CV3467110	single nucleotide variant	NM_000292.3(PHKA2):c.2911C>T (p.Arg971Cys)	Inborn genetic diseases [RCV004655929]	uncertain significance	X	18901601	18901601	Human	1	name
407530393	CV3467111	single nucleotide variant	NM_000292.3(PHKA2):c.2832G>A (p.Met944Ile)	Inborn genetic diseases [RCV004657032]	uncertain significance	X	18905834	18905834	Human	1	name
597714376	CV3569009	single nucleotide variant	NM_000292.3(PHKA2):c.1459G>T (p.Gly487Ter)	Inborn genetic diseases [RCV004959568]	pathogenic	X	18926453	18926453	Human	1	name
597714384	CV3569010	single nucleotide variant	NM_000292.3(PHKA2):c.1220A>T (p.Tyr407Phe)	Inborn genetic diseases [RCV004959569]	uncertain significance	X	18931666	18931666	Human	1	name
597714393	CV3569011	single nucleotide variant	NM_000292.3(PHKA2):c.1100G>A (p.Arg367His)	Inborn genetic diseases [RCV004959570]	likely benign	X	18936092	18936092	Human	1	name
597714414	CV3569014	single nucleotide variant	NM_000292.3(PHKA2):c.2117C>G (p.Ala706Gly)	Inborn genetic diseases [RCV004959573]	uncertain significance	X	18918701	18918701	Human	1	name
597945935	CV3790005	single nucleotide variant	NM_000292.3(PHKA2):c.2977A>G (p.Thr993Ala)	Glycogen storage disease IXa1 [RCV005134706]	uncertain significance	X	18901535	18901535	Human	1	name
597953465	CV3795546	single nucleotide variant	NM_000292.3(PHKA2):c.2373G>T (p.Trp791Cys)	Glycogen storage disease IXa1 [RCV005136556]	uncertain significance	X	18908044	18908044	Human	1	name
597958753	CV3797360	duplication	NM_000292.3(PHKA2):c.3029dup (p.Met1010fs)	Glycogen storage disease IXa1 [RCV005138047]	pathogenic	X	18900697	18900698	Human	1	name
12841324	CV380012	single nucleotide variant	NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met)	Glycogen storage disease IXa1 [RCV002521754]\|not specified [RCV000432367]	benign\|likely benign	X	18924460	18924460	Human	1	name
597932373	CV3812723	single nucleotide variant	NM_000292.3(PHKA2):c.1715C>G (p.Thr572Arg)	Glycogen storage disease IXa1 [RCV005157255]	uncertain significance	X	18924134	18924134	Human	1	name
597941528	CV3819323	single nucleotide variant	NM_000292.3(PHKA2):c.2889G>C (p.Glu963Asp)	Glycogen storage disease IXa1 [RCV005159133]	uncertain significance	X	18905777	18905777	Human	1	name
597975744	CV3828676	single nucleotide variant	NM_000292.3(PHKA2):c.2324A>G (p.Asp775Gly)	Glycogen storage disease IXa1 [RCV005169305]	uncertain significance	X	18908837	18908837	Human	1	name
597870204	CV3839361	single nucleotide variant	NM_000292.3(PHKA2):c.2788C>T (p.Arg930Trp)	Glycogen storage disease IXa1 [RCV005176472]	likely benign	X	18906513	18906513	Human	1	name
597873442	CV3849869	single nucleotide variant	NM_000292.3(PHKA2):c.1520C>T (p.Thr507Ile)	Glycogen storage disease IXa1 [RCV005197858]	uncertain significance	X	18925717	18925717	Human	1	name
597880482	CV3857306	single nucleotide variant	NM_000292.3(PHKA2):c.1489C>T (p.Arg497Ter)	Glycogen storage disease IXa1 [RCV005198913]	pathogenic	X	18925748	18925748	Human	1	name
597935605	CV3863758	single nucleotide variant	NM_000292.3(PHKA2):c.1067A>G (p.Glu356Gly)	not provided [RCV005207571]	uncertain significance	X	18936125	18936125	Human		name
598227245	CV3894482	single nucleotide variant	NM_000292.3(PHKA2):c.1856T>C (p.Leu619Pro)	not provided [RCV005257725]	uncertain significance	X	18920139	18920139	Human		name
598248995	CV3996645	single nucleotide variant	NM_000292.3(PHKA2):c.2386T>C (p.Ser796Pro)	Inborn genetic diseases [RCV005384399]	uncertain significance	X	18908031	18908031	Human	1	name
598249030	CV3996651	single nucleotide variant	NM_000292.3(PHKA2):c.2551C>T (p.Leu851Phe)	Inborn genetic diseases [RCV005384405]	uncertain significance	X	18907064	18907064	Human	1	name
617151577	CV4021792	single nucleotide variant	NM_000292.3(PHKA2):c.2774C>G (p.Ala925Gly)	not provided [RCV005426753]	uncertain significance	X	18906527	18906527	Human		name
13462471	CV439241	single nucleotide variant	NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser)	Glycogen storage disease IXa1 [RCV001086990]\|PHKA2-related disorder [RCV003935356]\|not provided [RCV000514227]	likely benign	X	18908052	18908052	Human	2	name , trait , alternate_id
13482020	CV446604	single nucleotide variant	NM_000292.3(PHKA2):c.2503G>C (p.Glu835Gln)	not provided [RCV000521670]	uncertain significance	X	18907914	18907914	Human		name
13478134	CV446605	single nucleotide variant	NM_000292.3(PHKA2):c.1604A>G (p.Asp535Gly)	not provided [RCV000520585]	uncertain significance	X	18924491	18924491	Human		name
13476136	CV446606	single nucleotide variant	NM_000292.3(PHKA2):c.1482G>C (p.Leu494Phe)	not provided [RCV000520070]	uncertain significance	X	18925755	18925755	Human		name
13516532	CV488960	single nucleotide variant	NM_000292.3(PHKA2):c.2485C>G (p.Leu829Val)	Inborn genetic diseases [RCV004024710]\|not provided [RCV000595641]	uncertain significance	X	18907932	18907932	Human	1	name
13529138	CV508130	single nucleotide variant	NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)	Glycogen storage disease IXa1 [RCV001083763]\|not provided [RCV000675944]\|not specified [RCV000605639]	benign\|likely benign\|uncertain significance	X	18929306	18929306	Human	1	name
13525029	CV508634	single nucleotide variant	NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu)	Glycogen storage disease IXa1 [RCV002063991]\|Inborn genetic diseases [RCV002529659]\|not specified [RCV000602601]	benign\|likely benign	X	18924516	18924516	Human	2	name
13613458	CV534696	single nucleotide variant	NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)	Glycogen storage disease IXa1 [RCV000631191]\|Inborn genetic diseases [RCV002533177]\|PHKA2-related disorder [RCV004754512]\|not provided [RCV001584458]\|not specified [RCV002222565]	uncertain significance	X	18925744	18925744	Human	3	name , trait , alternate_id
13613461	CV534785	single nucleotide variant	NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter)	Glycogen storage disease IXa1 [RCV000631193]	pathogenic	X	18936138	18936138	Human	1	name
13787579	CV549829	single nucleotide variant	NM_000292.3(PHKA2):c.1127C>T (p.Pro376Leu)	not provided [RCV000675945]\|not specified [RCV004800534]	uncertain significance	X	18936065	18936065	Human		name
13807405	CV574442	single nucleotide variant	NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)	Glycogen storage disease IXa1 [RCV000686726]\|Inborn genetic diseases [RCV002547105]\|PHKA2-related disorder [RCV004754530]	likely benign\|uncertain significance	X	18924519	18924519	Human	3	name , trait , alternate_id
13815071	CV575379	single nucleotide variant	NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro)	Glycogen storage disease IXa1 [RCV000691293]	uncertain significance	X	18907946	18907946	Human	1	name
13801484	CV575380	single nucleotide variant	NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter)	Glycogen storage disease IXa1 [RCV000697872]\|PHKA2-related disorder [RCV004731015]	pathogenic\|likely pathogenic	X	18910889	18910889	Human	2	name , trait , alternate_id
13832920	CV584146	single nucleotide variant	NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)	Glycogen storage disease IXa1 [RCV000810740]\|not provided [RCV000728027]	pathogenic\|likely pathogenic	X	18906555	18906555	Human	1	name
14702670	CV626294	single nucleotide variant	NM_000292.3(PHKA2):c.1618G>A (p.Val540Met)	Glycogen storage disease IXa1 [RCV000791105]\|Inborn genetic diseases [RCV002535828]	likely benign\|uncertain significance	X	18924477	18924477	Human	2	name
14711267	CV649916	single nucleotide variant	NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)	Glycogen storage disease IXa1 [RCV000809879]\|Inborn genetic diseases [RCV003362966]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	18901541	18901541	Human	2	name
14738206	CV649917	single nucleotide variant	NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter)	Glycogen storage disease IXa1 [RCV000804399]	pathogenic	X	18925691	18925691	Human	1	name
14744039	CV656759	single nucleotide variant	NM_000292.3(PHKA2):c.1978C>T (p.Leu660Phe)	Glycogen storage disease IXa1 [RCV005092500]\|not provided [RCV000842489]\|not specified [RCV004689902]	likely benign	X	18918840	18918840	Human	1	name
15040302	CV682742	duplication	NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter)	Glycogen storage disease IXa1 [RCV000856683]	pathogenic	X	18908892	18908893	Human	1	name
15040306	CV682743	single nucleotide variant	NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp)	Glycogen storage disease IXa1 [RCV000856687]	likely pathogenic	X	18931641	18931641	Human	1	name
15186220	CV729536	single nucleotide variant	NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)	Glycogen storage disease IXa1 [RCV000886916]\|Inborn genetic diseases [RCV002539357]\|not provided [RCV003438557]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	18924425	18924425	Human	2	name
15190572	CV743272	single nucleotide variant	NM_000292.3(PHKA2):c.2956G>A (p.Glu986Lys)	Glycogen storage disease IXa1 [RCV002542111]	benign	X	18901556	18901556	Human	1	name
15098997	CV773948	single nucleotide variant	NM_000292.3(PHKA2):c.1702C>T (p.Arg568Cys)	Glycogen storage disease IXa1 [RCV005092842]\|Inborn genetic diseases [RCV003353091]	likely benign	X	18924393	18924393	Human	2	name
21073343	CV792196	single nucleotide variant	NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)	Glycogen storage disease IXa1 [RCV000990492]	conflicting interpretations of pathogenicity\|uncertain significance	X	18906516	18906516	Human	1	name
21073344	CV792197	single nucleotide variant	NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)	Glycogen storage disease IXa1 [RCV000990493]	conflicting interpretations of pathogenicity\|uncertain significance	X	18906566	18906566	Human	1	name
26887011	CV849879	single nucleotide variant	NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)	Glycogen storage disease IXa1 [RCV001055677]\|not provided [RCV003438656]	likely benign\|uncertain significance	X	18924125	18924125	Human	1	name
28882742	CV860821	single nucleotide variant	NM_000292.3(PHKA2):c.2156C>T (p.Pro719Leu)	not provided [RCV001091310]	uncertain significance	X	18910942	18910942	Human		name
28882751	CV860822	single nucleotide variant	NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)	Glycogen storage disease IXa1 [RCV001262595]\|not provided [RCV001091311]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	18925747	18925747	Human	1	name
38460007	CV920001	single nucleotide variant	NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)	Glycogen storage disease IXa1 [RCV001196288]\|Inborn genetic diseases [RCV004960518]	uncertain significance	X	18905818	18905818	Human	2	name
38493113	CV929641	single nucleotide variant	NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)	Glycogen storage disease IXa1 [RCV001224050]	uncertain significance	X	18908036	18908036	Human	1	name
38482539	CV929642	single nucleotide variant	NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter)	Glycogen storage disease IXa1 [RCV001218511]\|not provided [RCV004720799]	pathogenic	X	18931681	18931681	Human	1	name
38486285	CV929643	single nucleotide variant	NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)	Glycogen storage disease IXa1 [RCV001220227]	uncertain significance	X	18936093	18936093	Human	1	name
38482057	CV951702	single nucleotide variant	NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)	Glycogen storage disease IXa1 [RCV001235291]	uncertain significance	X	18906615	18906615	Human	1	name
126730039	CV999715	single nucleotide variant	NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)	Glycogen storage disease IXa1 [RCV001303323]	pathogenic\|uncertain significance	X	18907947	18907947	Human	1	name
126730046	CV999716	single nucleotide variant	NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)	Glycogen storage disease IXa1 [RCV001303908]\|not specified [RCV004770018]	uncertain significance	X	18907974	18907974	Human	1	name
126729927	CV999717	single nucleotide variant	NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)	Glycogen storage disease IXa1 [RCV001295682]	uncertain significance	X	18926528	18926528	Human	1	name
126741778	CV1018961	single nucleotide variant	NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter)	Glycogen storage disease IXa1 [RCV001329781]	pathogenic	X	18894212	18894212	Human	1	name
126767352	CV1035444	single nucleotide variant	NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)	Glycogen storage disease IXa1 [RCV001342789]\|not provided [RCV001531133]\|not specified [RCV002246320]	likely pathogenic\|uncertain significance	X	18895185	18895185	Human	1	name
126917036	CV1052374	single nucleotide variant	NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)	Glycogen storage disease IXa1 [RCV001371847]	uncertain significance	X	18894250	18894250	Human	1	name
150521436	CV1289132	single nucleotide variant	NM_000292.3(PHKA2):c.3443C>T (p.Thr1148Met)	not provided [RCV001725897]	uncertain significance	X	18894298	18894298	Human		name
150531415	CV1301894	single nucleotide variant	NM_000292.3(PHKA2):c.3311T>C (p.Val1104Ala)	not provided [RCV001757111]	uncertain significance	X	18895163	18895163	Human		name
150534833	CV1311643	single nucleotide variant	NM_000292.3(PHKA2):c.3601T>C (p.Tyr1201His)	Glycogen storage disease IXa1 [RCV005095116]\|not specified [RCV001779453]	uncertain significance	X	18893592	18893592	Human	1	name
151748425	CV1422400	single nucleotide variant	NM_000292.3(PHKA2):c.3127T>C (p.Ser1043Pro)	Glycogen storage disease IXa1 [RCV001927255]	uncertain significance	X	18897318	18897318	Human	1	name
155677191	CV1771846	single nucleotide variant	NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)	Glycogen storage disease IXa1 [RCV002297865]	uncertain significance	X	18894225	18894225	Human	1	name
155696558	CV1777123	single nucleotide variant	NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr)	Glycogen storage disease IXa1 [RCV002295271]	uncertain significance	X	18895190	18895190	Human	1	name
155803242	CV1858012	single nucleotide variant	NM_000292.3(PHKA2):c.3286C>T (p.His1096Tyr)	not provided [RCV002461862]	uncertain significance	X	18895188	18895188	Human		name
156389670	CV1876009	single nucleotide variant	NM_000292.3(PHKA2):c.3158C>T (p.Ser1053Leu)	Glycogen storage disease IXa1 [RCV003051180]	likely benign	X	18897287	18897287	Human	1	name
156299253	CV1890744	single nucleotide variant	NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met)	Glycogen storage disease IXa1 [RCV003087843]\|Inborn genetic diseases [RCV004071943]	likely benign\|uncertain significance	X	18897271	18897271	Human	2	name
156375277	CV1899367	single nucleotide variant	NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys)	Glycogen storage disease IXa1 [RCV003092809]	uncertain significance	X	18897240	18897240	Human	1	name
10401552	CV205339	single nucleotide variant	NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)	Glycogen storage disease IXa1 [RCV000990491]\|Inborn genetic diseases [RCV000190757]	likely pathogenic\|uncertain significance	X	18894358	18894358	Human	2	name
156049184	CV2059979	single nucleotide variant	NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro)	Glycogen storage disease IXa1 [RCV002796707]	uncertain significance	X	18894331	18894331	Human	1	name
156372285	CV2127621	single nucleotide variant	NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)	Glycogen storage disease IXa1 [RCV002942429]\|Inborn genetic diseases [RCV004067252]	likely benign\|uncertain significance	X	18894353	18894353	Human	2	name
156143759	CV2208665	single nucleotide variant	NM_000292.3(PHKA2):c.3313C>T (p.Leu1105Phe)	Glycogen storage disease IXa1 [RCV005099544]\|Inborn genetic diseases [RCV002697212]\|not provided [RCV003327590]	uncertain significance	X	18895161	18895161	Human	2	name
155945622	CV2238010	single nucleotide variant	NM_000292.3(PHKA2):c.3092C>T (p.Ala1031Val)	Inborn genetic diseases [RCV002752463]	likely benign	X	18899192	18899192	Human	1	name
243052489	CV2417923	single nucleotide variant	NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)	Glycogen storage disease IXa1 [RCV003152988]	uncertain significance	X	18895138	18895138	Human	1	name
329363835	CV2442541	single nucleotide variant	NM_000292.3(PHKA2):c.3175G>A (p.Gly1059Ser)	Inborn genetic diseases [RCV003181413]	uncertain significance	X	18897270	18897270	Human	1	name
329393220	CV2449573	single nucleotide variant	NM_000292.3(PHKA2):c.3348T>G (p.His1116Gln)	Inborn genetic diseases [RCV003193060]	likely benign	X	18894393	18894393	Human	1	name
8598508	CV25566	single nucleotide variant	NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter)	Glycogen storage disease IXa1 [RCV000011273]	pathogenic	X	18901487	18901487	Human	1	name
8598510	CV25569	single nucleotide variant	NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter)	Glycogen storage disease IXa1 [RCV000011276]	pathogenic	X	18897299	18897299	Human	1	name
8598511	CV25570	single nucleotide variant	NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)	Glycogen storage disease IXa1 [RCV000011277]\|not provided [RCV001091309]	pathogenic	X	18893579	18893579	Human	1	name
8598512	CV25572	single nucleotide variant	NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)	Glycogen storage disease IXa1 [RCV000548701]\|Glycogen storage disease IXa2 [RCV000011279]	pathogenic\|likely pathogenic	X	18894400	18894400	Human	1	name
401798333	CV2739324	single nucleotide variant	NM_000292.3(PHKA2):c.3471C>A (p.Ser1157Arg)	not provided [RCV003318972]	uncertain significance	X	18894270	18894270	Human		name
401829964	CV2744087	single nucleotide variant	NM_000292.3(PHKA2):c.3124C>T (p.Pro1042Ser)	not provided [RCV003327236]	uncertain significance	X	18897321	18897321	Human		name
401876081	CV2750199	single nucleotide variant	NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)	Glycogen storage disease IXa1 [RCV003333647]	uncertain significance	X	18895187	18895187	Human	1	name
401871185	CV2763369	single nucleotide variant	NM_000292.3(PHKA2):c.3125C>T (p.Pro1042Leu)	Inborn genetic diseases [RCV003361451]	uncertain significance	X	18897320	18897320	Human	1	name
401924896	CV2805163	single nucleotide variant	NM_000292.3(PHKA2):c.3544A>G (p.Ile1182Val)	not specified [RCV003404984]	uncertain significance	X	18893649	18893649	Human		name
401931138	CV2821300	single nucleotide variant	NM_000292.3(PHKA2):c.3458C>T (p.Thr1153Met)	not provided [RCV003441099]	likely benign	X	18894283	18894283	Human		name
401905543	CV2831492	single nucleotide variant	NM_000292.3(PHKA2):c.3557A>C (p.Asp1186Ala)	Glycogen storage disease IXa1 [RCV003444484]	uncertain significance	X	18893636	18893636	Human	1	name
404996606	CV2866888	single nucleotide variant	NM_000292.3(PHKA2):c.3665A>C (p.Tyr1222Ser)	Glycogen storage disease IXa1 [RCV003525710]\|Inborn genetic diseases [RCV004368990]	likely benign	X	18893528	18893528	Human	2	name
405012610	CV2896832	single nucleotide variant	NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)	Glycogen storage disease IXa1 [RCV003527409]	uncertain significance	X	18894317	18894317	Human	1	name
405196664	CV2982028	single nucleotide variant	NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)	Glycogen storage disease IXa1 [RCV003641576]	uncertain significance	X	18894332	18894332	Human	1	name
405201994	CV3071677	single nucleotide variant	NM_000292.3(PHKA2):c.3121A>G (p.Thr1041Ala)	Glycogen storage disease IXa1 [RCV003642310]	uncertain significance	X	18897324	18897324	Human	1	name
405288442	CV3197453	single nucleotide variant	NM_000292.3(PHKA2):c.3565G>A (p.Glu1189Lys)	PHKA2-related disorder [RCV003982549]	likely benign	X	18893628	18893628	Human		name , trait , alternate_id
405281754	CV3224329	single nucleotide variant	NM_000292.3(PHKA2):c.3262G>A (p.Val1088Met)	Glycogen storage disease IXa1 [RCV003988711]	uncertain significance	X	18897183	18897183	Human	1	name
405764342	CV3365315	single nucleotide variant	NM_000292.3(PHKA2):c.3115T>A (p.Ser1039Thr)	Inborn genetic diseases [RCV004501161]	uncertain significance	X	18897330	18897330	Human	1	name
405764346	CV3365316	single nucleotide variant	NM_000292.3(PHKA2):c.3262G>T (p.Val1088Leu)	Inborn genetic diseases [RCV004501162]	uncertain significance	X	18897183	18897183	Human	1	name
405764352	CV3365317	single nucleotide variant	NM_000292.3(PHKA2):c.3620G>A (p.Gly1207Glu)	Inborn genetic diseases [RCV004501163]	uncertain significance	X	18893573	18893573	Human	1	name
405854253	CV3392932	single nucleotide variant	NM_000292.3(PHKA2):c.3146C>T (p.Ser1049Leu)	not specified [RCV004527089]	uncertain significance	X	18897299	18897299	Human		name
405855031	CV3395557	single nucleotide variant	NM_000292.3(PHKA2):c.3422T>A (p.Val1141Glu)	Glycogen storage disease IXa1 [RCV004555805]	uncertain significance	X	18894319	18894319	Human	1	name
408367152	CV3500192	single nucleotide variant	NM_000292.3(PHKA2):c.3334G>T (p.Glu1112Ter)	not provided [RCV004722235]	pathogenic	X	18895140	18895140	Human		name
408384535	CV3505418	single nucleotide variant	NM_000292.3(PHKA2):c.3190C>T (p.Gln1064Ter)	PHKA2-related disorder [RCV004731840]	likely pathogenic	X	18897255	18897255	Human		name , trait , alternate_id
408390632	CV3527651	single nucleotide variant	NM_000292.3(PHKA2):c.3140G>A (p.Gly1047Asp)	not provided [RCV004774919]	uncertain significance	X	18897305	18897305	Human		name
596926915	CV3539908	single nucleotide variant	NM_000292.3(PHKA2):c.3626A>T (p.Tyr1209Phe)	not provided [RCV004790899]	uncertain significance	X	18893567	18893567	Human		name
596942199	CV3542538	single nucleotide variant	NM_000292.3(PHKA2):c.3344C>T (p.Pro1115Leu)	Glycogen storage disease IXa1 [RCV004798122]	uncertain significance	X	18894397	18894397	Human	1	name
597714354	CV3569005	single nucleotide variant	NM_000292.3(PHKA2):c.3610G>A (p.Ala1204Thr)	Inborn genetic diseases [RCV004959565]	uncertain significance	X	18893583	18893583	Human	1	name
597714361	CV3569006	single nucleotide variant	NM_000292.3(PHKA2):c.3348T>A (p.His1116Gln)	Inborn genetic diseases [RCV004959566]	likely benign	X	18894393	18894393	Human	1	name
597714367	CV3569008	single nucleotide variant	NM_000292.3(PHKA2):c.3617G>C (p.Ser1206Thr)	Inborn genetic diseases [RCV004959567]	likely benign	X	18893576	18893576	Human	1	name
597714397	CV3569012	single nucleotide variant	NM_000292.3(PHKA2):c.3238G>A (p.Val1080Ile)	Inborn genetic diseases [RCV004959571]	uncertain significance	X	18897207	18897207	Human	1	name
597714405	CV3569013	single nucleotide variant	NM_000292.3(PHKA2):c.3557A>G (p.Asp1186Gly)	Inborn genetic diseases [RCV004959572]	uncertain significance	X	18893636	18893636	Human	1	name
597882788	CV3764003	single nucleotide variant	NM_000292.3(PHKA2):c.3638C>G (p.Thr1213Ser)	Glycogen storage disease IXa1 [RCV005109404]	likely benign	X	18893555	18893555	Human	1	name
597907610	CV3804215	single nucleotide variant	NM_000292.3(PHKA2):c.3187C>T (p.Arg1063Trp)	Glycogen storage disease IXa1 [RCV005153761]	uncertain significance	X	18897258	18897258	Human	1	name
597880474	CV3857305	single nucleotide variant	NM_000292.3(PHKA2):c.3349G>A (p.Glu1117Lys)	Glycogen storage disease IXa1 [RCV005198912]	uncertain significance	X	18894392	18894392	Human	1	name
598128108	CV3883127	single nucleotide variant	NM_000292.3(PHKA2):c.3188G>A (p.Arg1063Gln)	not provided [RCV005234660]	uncertain significance	X	18897257	18897257	Human		name
598125413	CV3883986	single nucleotide variant	NM_000292.3(PHKA2):c.3242C>T (p.Pro1081Leu)	not provided [RCV005236341]	uncertain significance	X	18897203	18897203	Human		name
598122573	CV3884504	single nucleotide variant	NM_000292.3(PHKA2):c.3080C>T (p.Ala1027Val)	not specified [RCV005237196]	uncertain significance	X	18899204	18899204	Human		name
598228331	CV3894617	single nucleotide variant	NM_000292.3(PHKA2):c.3304G>T (p.Gly1102Cys)	not provided [RCV005257861]	uncertain significance	X	18895170	18895170	Human		name
598249000	CV3996646	single nucleotide variant	NM_000292.3(PHKA2):c.3406T>C (p.Tyr1136His)	Inborn genetic diseases [RCV005384400]	uncertain significance	X	18894335	18894335	Human	1	name
598249013	CV3996648	single nucleotide variant	NM_000292.3(PHKA2):c.3462G>T (p.Glu1154Asp)	Inborn genetic diseases [RCV005384402]	uncertain significance	X	18894279	18894279	Human	1	name
12901673	CV411237	single nucleotide variant	NM_000292.3(PHKA2):c.3332G>A (p.Arg1111Gln)	not provided [RCV000485262]	uncertain significance	X	18895142	18895142	Human		name
13522349	CV491681	single nucleotide variant	NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met)	Glycogen storage disease IXa1 [RCV002532515]\|PHKA2-related disorder [RCV003905538]\|not specified [RCV000591627]	likely benign\|uncertain significance	X	18897201	18897201	Human	2	name , trait , alternate_id
13524135	CV492427	single nucleotide variant	NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)	Glycogen storage disease IXa1 [RCV000694657]\|not provided [RCV000593883]	conflicting interpretations of pathogenicity\|uncertain significance	X	18894368	18894368	Human	1	name
13541980	CV508114	single nucleotide variant	NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr)	Glycogen storage disease IXa1 [RCV002529429]\|Inborn genetic diseases [RCV004024913]\|PHKA2-related disorder [RCV003953022]\|not provided [RCV003437302]\|not specified [RCV000616904]	benign\|likely benign	X	18894232	18894232	Human	3	name , trait , alternate_id
13528221	CV513392	single nucleotide variant	NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr)	Glycogen storage disease IXa1 [RCV000625923]\|Inborn genetic diseases [RCV004025288]	likely benign\|uncertain significance	X	18899220	18899220	Human	2	name
14695854	CV622490	single nucleotide variant	NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)	Glycogen storage disease IXa1 [RCV000785050]\|Inborn genetic diseases [RCV002535715]	uncertain significance	X	18893603	18893603	Human	2	name
14742903	CV649913	single nucleotide variant	NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu)	Glycogen storage disease IXa1 [RCV000823090]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	18893564	18893564	Human	1	name
14717097	CV649914	single nucleotide variant	NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter)	Glycogen storage disease IXa1 [RCV000811771]	pathogenic	X	18895143	18895143	Human	1	name
14739239	CV649915	single nucleotide variant	NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val)	Glycogen storage disease IXa1 [RCV000821257]	uncertain significance	X	18900699	18900699	Human	1	name
15040303	CV682741	single nucleotide variant	NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)	Glycogen storage disease IXa1 [RCV000856684]	uncertain significance	X	18893565	18893565	Human	1	name
15184257	CV729535	single nucleotide variant	NM_000292.3(PHKA2):c.3038G>A (p.Arg1013Gln)	Glycogen storage disease IXa1 [RCV002540058]\|Inborn genetic diseases [RCV004958229]	likely benign	X	18900689	18900689	Human	2	name
21073341	CV792195	single nucleotide variant	NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)	Glycogen storage disease IXa1 [RCV000990490]	pathogenic	X	18894344	18894344	Human	1	name
26920898	CV849877	single nucleotide variant	NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter)	Glycogen storage disease IXa1 [RCV001048783]	pathogenic	X	18894364	18894364	Human	1	name
38473110	CV939518	single nucleotide variant	NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)	Glycogen storage disease IXa1 [RCV001213413]	uncertain significance	X	18893485	18893485	Human	1	name
126730012	CV999712	single nucleotide variant	NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)	Glycogen storage disease IXa1 [RCV001302143]	uncertain significance	X	18894385	18894385	Human	1	name
126729901	CV999713	single nucleotide variant	NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)	Glycogen storage disease IXa1 [RCV001294778]	uncertain significance	X	18895148	18895148	Human	1	name
127262346	CV1065265	deletion	NM_000292.3(PHKA2):c.900_907del (p.Tyr301fs)	Glycogen storage disease IXa1 [RCV001387691]	pathogenic	X	18940006	18940013	Human		name
21073349	CV792200	deletion	NM_000292.3(PHKA2):c.314_317del (p.Thr105fs)	Glycogen storage disease IXa1 [RCV000990496]	pathogenic	X	18951241	18951244	Human	1	name
28882759	CV860823	deletion	NM_000292.3(PHKA2):c.505_509del (p.Val169fs)	not provided [RCV001091312]	likely pathogenic	X	18948772	18948776	Human		name
8561758	CV25571	deletion	NM_000292.3(PHKA2):c.421_423del (p.Phe141del)	Glycogen storage disease IXa1 [RCV000011278]	pathogenic	X	18951135	18951137	Human	1	name
8555116	CV25578	deletion	NM_000292.3(PHKA2):c.750_752del (p.Thr251del)	Glycogen storage disease IXa2 [RCV000011285]	pathogenic	X	18941641	18941643	Human	1	name
401931141	CV2821303	microsatellite	NM_000292.3(PHKA2):c.2416CTT[1] (p.Leu807del)	not provided [RCV003441102]	uncertain significance	X	18907996	18907998	Human		name
127251908	CV1065264	microsatellite	NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs)	Glycogen storage disease IXa1 [RCV001385593]	pathogenic	X	18908038	18908039	Human		name
404995195	CV2859017	deletion	NM_000292.3(PHKA2):c.2783_2793del (p.Leu928fs)	Glycogen storage disease IXa1 [RCV003525572]	pathogenic	X	18906508	18906518	Human	1	name
597883729	CV3857979	microsatellite	NM_000292.3(PHKA2):c.3659CTT[1] (p.Ser1221del)	Glycogen storage disease IXa1 [RCV005199407]	uncertain significance	X	18893529	18893531	Human		name
598215689	CV3891445	duplication	NM_000292.3(PHKA2):c.2077_2078dup (p.His694fs)	Glycogen storage disease IXa1 [RCV005252287]	likely pathogenic	X	18918739	18918740	Human	1	name
13811722	CV575377	deletion	NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs)	Glycogen storage disease IXa1 [RCV000688946]	pathogenic	X	18906519	18906529	Human	1	name
127286161	CV1161859	microsatellite	NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs)	Aland island eye disease [RCV001526564]	pathogenic	X	18895177	18895178	Human		name
150543254	CV1315157	duplication	NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)	Glycogen storage disease IXa1 [RCV001782613]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	18893546	18893547	Human	1	name
26895800	CV849878	duplication	NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)	Glycogen storage disease IXa1 [RCV001064276]	pathogenic\|likely pathogenic	X	18894363	18894364	Human	1	name
12894233	CV411236	deletion	NM_000292.3(PHKA2):c.3599_3601del (p.Phe1200del)	not provided [RCV000482027]	likely pathogenic	X	18893592	18893594	Human		name
13518500	CV492524	deletion	NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del)	Glycogen storage disease IXa1 [RCV001042605]\|not provided [RCV000597489]	pathogenic\|likely pathogenic\|uncertain significance	X	18897233	18897235	Human	1	name
38488610	CV939519	insertion	NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)	Glycogen storage disease IXa1 [RCV001209837]	pathogenic\|likely pathogenic	X	18894316	18894317	Human	1	name
15040305	CV682744	indel	NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs)	Glycogen storage disease IXa1 [RCV000856686]	likely pathogenic	X	18951139	18951153	Human		name
407426525	CV3409989	duplication	NM_000292.3(PHKA2):c.3508_3510dup (p.Met1170_Ala1171insMet)	not provided [RCV004585921]	uncertain significance	X	18894230	18894231	Human		name
26918233	CV849876	duplication	NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle)	Glycogen storage disease IXa1 [RCV001043235]	likely pathogenic	X	18893546	18893547	Human	1	name
8555117	CV25579	duplication	NM_000292.3(PHKA2):c.3327_3332dup (p.Arg1111_Glu1112insThrArg)	Glycogen storage disease IXa2 [RCV000011286]	pathogenic	X	18895141	18895142	Human	1	name
11632882	CV265146	indel	NM_000292.3(PHKA2):c.2782_2783delinsATGGCACGGAGCC (p.Leu928fs)	not provided [RCV000293747]	pathogenic	X	18906518	18906519	Human		name
408366195	CV3515854	indel	NM_000292.3(PHKA2):c.1333_1336delinsCACAGTTCTTGTTCA (p.Leu445fs)	PHKA2-related disorder [RCV004755615]	pathogenic	X	18926576	18926579	Human		name , trait , alternate_id
151815481	CV1406457	insertion	NM_000292.3(PHKA2):c.2509_2510insATGTATAAATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTATATTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTCC (p.Leu837delinsHisValTer)	Glycogen storage disease IXa1 [RCV001975200]	pathogenic	X	18907907	18907908	Human	1	name

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