Slc37a4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1003 records found for search term Slc37a4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8559646	CV21966	deletion	SLC37A4, IVS8, 4-BP DEL	Phosphate transport defect [RCV000007338]	pathogenic				Human		name
8559644	CV21964	deletion	SLC37A4, 170-BP DEL, NT148	Glucose-6-phosphate transport defect [RCV000007334]\|Phosphate transport defect [RCV000007335]	pathogenic				Human		name
8559648	CV21968	insertion	SLC37A4, 12-BP INS, NT1103	Glucose-6-phosphate transport defect [RCV000007340]\|Phosphate transport defect [RCV000007341]	pathogenic				Human		name
11610735	CV318538	single nucleotide variant	NM_001164277.2(SLC37A4):c.*5A>C	Glycogen storage disease, type I [RCV000385794]\|SLC37A4-related disorder [RCV003983004]	likely benign\|uncertain significance	11	119024905	119024905	Human	1	name , alternate_id
13789652	CV545436	single nucleotide variant	NM_001164277.2(SLC37A4):c.*7T>G	Glucose-6-phosphate transport defect [RCV000666106]	uncertain significance	11	119024903	119024903	Human	1	name
13791600	CV546085	single nucleotide variant	NM_001164277.2(SLC37A4):c.-2C>T	Glucose-6-phosphate transport defect [RCV000667652]	uncertain significance	11	119029371	119029371	Human	1	name
13786852	CV546094	single nucleotide variant	NM_001164277.2(SLC37A4):c.*5A>T	Glucose-6-phosphate transport defect [RCV000673139]	uncertain significance	11	119024905	119024905	Human	1	name
13784021	CV546096	single nucleotide variant	NM_001164277.2(SLC37A4):c.*5A>G	Glucose-6-phosphate transport defect [RCV000670495]	uncertain significance	11	119024905	119024905	Human	1	name
13792423	CV546098	single nucleotide variant	NM_001164277.2(SLC37A4):c.*1A>G	Glucose-6-phosphate transport defect [RCV000668692]	uncertain significance	11	119024909	119024909	Human	1	name
150491455	CV1239282	single nucleotide variant	NM_001164277.2(SLC37A4):c.*17G>A	not provided [RCV001654850]	benign	11	119024893	119024893	Human		name
11606400	CV312554	single nucleotide variant	NM_001164277.2(SLC37A4):c.*31C>T	Glycogen storage disease, type I [RCV000331320]	uncertain significance	11	119024879	119024879	Human	1	name
11653145	CV324631	single nucleotide variant	NM_001164277.2(SLC37A4):c.-50T>G	Glycogen storage disease, type I [RCV000309316]	uncertain significance	11	119029419	119029419	Human	1	name
11625048	CV325384	single nucleotide variant	NM_001164277.2(SLC37A4):c.-42G>C	Glycogen storage disease, type I [RCV000394328]	likely benign\|uncertain significance	11	119029411	119029411	Human	1	name
11622735	CV325389	single nucleotide variant	NM_001164277.2(SLC37A4):c.-64C>T	Glycogen storage disease, type I [RCV000364102]	uncertain significance	11	119029433	119029433	Human	1	name
12833837	CV372210	single nucleotide variant	NM_001164277.2(SLC37A4):c.*11G>A	Glucose-6-phosphate transport defect [RCV000672091]\|not specified [RCV000419265]	likely benign\|uncertain significance	11	119024899	119024899	Human	1	name
13788656	CV545807	single nucleotide variant	NM_001164277.2(SLC37A4):c.-10C>G	Glucose-6-phosphate transport defect [RCV000674082]	uncertain significance	11	119029379	119029379	Human	1	name
13787587	CV546091	single nucleotide variant	NM_001164277.2(SLC37A4):c.*12G>A	Glucose-6-phosphate transport defect [RCV000673533]	uncertain significance	11	119024898	119024898	Human	1	name
13785075	CV546124	single nucleotide variant	NM_001164277.2(SLC37A4):c.-13G>T	Glucose-6-phosphate transport defect [RCV000671596]	uncertain significance	11	119029382	119029382	Human	1	name
13787554	CV546126	single nucleotide variant	NM_001164277.2(SLC37A4):c.-15C>T	Glucose-6-phosphate transport defect [RCV000664911]	uncertain significance	11	119029384	119029384	Human	1	name
13786799	CV546398	single nucleotide variant	NM_001164277.2(SLC37A4):c.-16C>G	Glucose-6-phosphate transport defect [RCV000664472]	uncertain significance	11	119029385	119029385	Human	1	name
13792216	CV546419	single nucleotide variant	NM_001164277.2(SLC37A4):c.-16C>A	Glucose-6-phosphate transport defect [RCV000668433]	uncertain significance	11	119029385	119029385	Human	1	name
28907527	CV867117	single nucleotide variant	NM_001164277.2(SLC37A4):c.-99A>G	Glycogen storage disease, type I [RCV001107268]	uncertain significance	11	119029468	119029468	Human	1	name
8692932	CV142898	single nucleotide variant	NM_001164277.2(SLC37A4):c.-516G>A	Glycogen storage disease, type I [RCV000317647]\|not provided [RCV004708056]\|not specified [RCV000128145]	benign	11	119030552	119030552	Human	3	name
8692932	CV142898	single nucleotide variant	NM_001164277.2(SLC37A4):c.-516G>A	Glycogen storage disease, type I [RCV000317647]\|not provided [RCV004708056]\|not specified [RCV000128145]	benign	11	119030552	119030553	Human	3	name
11646297	CV312550	single nucleotide variant	NM_001164277.2(SLC37A4):c.*283T>C	Glycogen storage disease, type I [RCV000270162]	uncertain significance	11	119024627	119024627	Human	1	name
11655337	CV312552	single nucleotide variant	NM_001164277.2(SLC37A4):c.*139G>T	Glycogen storage disease, type I [RCV000325224]	uncertain significance	11	119024771	119024771	Human	1	name
11647253	CV312556	single nucleotide variant	NM_001164277.2(SLC37A4):c.-279C>T	Glycogen storage disease, type I [RCV000275302]	uncertain significance	11	119030315	119030315	Human	1	name
11610998	CV318519	single nucleotide variant	NM_001164277.2(SLC37A4):c.*138C>T	Glycogen storage disease, type I [RCV000389315]\|not provided [RCV004692989]	uncertain significance	11	119024772	119024772	Human	1	name
11602916	CV318535	single nucleotide variant	NM_001164277.2(SLC37A4):c.*125G>C	Glycogen storage disease, type I [RCV000294933]\|not provided [RCV001538740]	benign	11	119024785	119024785	Human	1	name
11609534	CV318539	single nucleotide variant	NM_001164277.2(SLC37A4):c.-217G>A	Glycogen storage disease, type I [RCV000369704]	uncertain significance	11	119030253	119030253	Human	1	name
11661364	CV318540	single nucleotide variant	NM_001164277.2(SLC37A4):c.-384G>A	Glycogen storage disease, type I [RCV000375858]	uncertain significance	11	119030420	119030420	Human	1	name
11649398	CV318543	single nucleotide variant	NM_001164277.2(SLC37A4):c.-670C>T	Glycogen storage disease, type I [RCV000287287]	uncertain significance	11	119030706	119030706	Human	1	name
11613551	CV324632	single nucleotide variant	NM_001164277.2(SLC37A4):c.-108G>A	Glycogen storage disease, type I [RCV000269524]	uncertain significance	11	119029477	119029477	Human	1	name
11619847	CV324642	deletion	NM_001164277.2(SLC37A4):c.-291del	Glycogen storage disease, type I [RCV000330315]	uncertain significance	11	119030327	119030327	Human	1	name
11624854	CV324643	single nucleotide variant	NM_001164277.1(SLC37A4):c.-755T>A	Glycogen storage disease, type I [RCV000391702]\|not provided [RCV001672440]	benign	11	119030904	119030904	Human	2	name
11624854	CV324643	single nucleotide variant	NM_001164277.1(SLC37A4):c.-755T>A	Glycogen storage disease, type I [RCV000391702]\|not provided [RCV001672440]	benign	11	119030904	119030905	Human	2	name
11613148	CV325352	single nucleotide variant	NM_001164277.2(SLC37A4):c.*418T>C	Glycogen storage disease, type I [RCV000265891]\|not provided [RCV004708190]	benign	11	119024492	119024492	Human	1	name
11655823	CV325353	single nucleotide variant	NM_001164277.2(SLC37A4):c.*360C>G	Glycogen storage disease, type I [RCV000328787]	uncertain significance	11	119024550	119024550	Human	1	name
11662144	CV325367	single nucleotide variant	NM_001164277.2(SLC37A4):c.*298C>T	Glycogen storage disease, type I [RCV000383358]	uncertain significance	11	119024612	119024612	Human	1	name
11614969	CV325405	single nucleotide variant	NM_001164277.2(SLC37A4):c.-420G>C	Glycogen storage disease, type I [RCV000281378]\|not provided [RCV001612954]	benign	11	119030456	119030456	Human	1	name
11623413	CV325408	single nucleotide variant	NM_001164277.2(SLC37A4):c.-573C>G	Glycogen storage disease, type I [RCV000372332]	uncertain significance	11	119030609	119030609	Human	1	name
12843665	CV371269	single nucleotide variant	NM_001164277.2(SLC37A4):c.-183C>T	Glycogen storage disease, type I [RCV001107269]\|not specified [RCV000436613]	likely benign\|uncertain significance	11	119029552	119029552	Human	1	name
13792278	CV545778	microsatellite	NM_001164277.2(SLC37A4):c.*1AG[2]	Glucose-6-phosphate transport defect [RCV000668509]	uncertain significance	11	119024904	119024905	Human		name
13782591	CV546097	single nucleotide variant	NM_001164277.2(SLC37A4):c.-498G>T	Glucose-6-phosphate transport defect [RCV000669051]	uncertain significance	11	119030534	119030534	Human	1	name
13786003	CV546106	single nucleotide variant	NM_001164277.2(SLC37A4):c.-499C>T	Glucose-6-phosphate transport defect [RCV000672463]	uncertain significance	11	119030535	119030535	Human	1	name
13790547	CV546108	single nucleotide variant	NM_001164277.2(SLC37A4):c.-522G>A	Glucose-6-phosphate transport defect [RCV000666640]	uncertain significance	11	119030558	119030558	Human	1	name
13790092	CV546129	single nucleotide variant	NM_001164277.2(SLC37A4):c.-504G>C	Glucose-6-phosphate transport defect [RCV000674855]	uncertain significance	11	119030540	119030540	Human	1	name
13788569	CV546133	single nucleotide variant	NM_001164277.2(SLC37A4):c.-504G>A	Glucose-6-phosphate transport defect [RCV000665456]	uncertain significance	11	119030540	119030540	Human	1	name
13786789	CV546148	single nucleotide variant	NM_001164277.2(SLC37A4):c.-506A>G	Glucose-6-phosphate transport defect [RCV000673107]	uncertain significance	11	119030542	119030542	Human	1	name
13790799	CV546151	single nucleotide variant	NM_001164277.2(SLC37A4):c.-528C>T	Glucose-6-phosphate transport defect [RCV000666809]	uncertain significance	11	119030564	119030564	Human	1	name
13788347	CV546153	single nucleotide variant	NM_001164277.2(SLC37A4):c.-535G>C	Glucose-6-phosphate transport defect [RCV000665323]	uncertain significance	11	119030571	119030571	Human	1	name
13790351	CV546157	single nucleotide variant	NM_001164277.2(SLC37A4):c.-535G>A	Glucose-6-phosphate transport defect [RCV000666486]	uncertain significance	11	119030571	119030571	Human	1	name
13792400	CV546420	single nucleotide variant	NM_001164277.2(SLC37A4):c.-527C>T	Glucose-6-phosphate transport defect [RCV000668663]	uncertain significance	11	119030563	119030563	Human	1	name
13790006	CV546433	single nucleotide variant	NM_001164277.2(SLC37A4):c.-530G>A	Glucose-6-phosphate transport defect [RCV000666293]	uncertain significance	11	119030566	119030566	Human	1	name
28901142	CV867110	single nucleotide variant	NM_001164277.2(SLC37A4):c.*338T>C	Glycogen storage disease, type I [RCV001104111]	uncertain significance	11	119024572	119024572	Human	1	name
28901147	CV867111	single nucleotide variant	NM_001164277.2(SLC37A4):c.*263T>C	Glycogen storage disease, type I [RCV001104112]	uncertain significance	11	119024647	119024647	Human	1	name
28901876	CV867112	single nucleotide variant	NM_001164277.2(SLC37A4):c.*204C>T	Glycogen storage disease, type I [RCV001104420]	uncertain significance	11	119024706	119024706	Human	1	name
28908603	CV867118	single nucleotide variant	NM_001164277.2(SLC37A4):c.-439T>C	Glycogen storage disease, type I [RCV001107916]	uncertain significance	11	119030475	119030475	Human	1	name
28908605	CV867119	single nucleotide variant	NM_001164277.2(SLC37A4):c.-594A>T	Glycogen storage disease, type I [RCV001107917]	uncertain significance	11	119030630	119030630	Human	1	name
127255939	CV1055987	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-2A>G	Glucose-6-phosphate transport defect [RCV001379469]	likely pathogenic	11	119026690	119026690	Human	1	name
127299570	CV1121107	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+7G>C	Glucose-6-phosphate transport defect [RCV001478229]	likely benign	11	119026596	119026596	Human	1	name
127317028	CV1141940	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+8G>C	Glucose-6-phosphate transport defect [RCV001483045]	likely benign	11	119026595	119026595	Human	1	name
127327377	CV1141946	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-6C>T	Glucose-6-phosphate transport defect [RCV001486337]	likely benign	11	119027101	119027101	Human	1	name
151764697	CV1387359	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-8C>T	Glucose-6-phosphate transport defect [RCV001987658]	likely benign	11	119027880	119027880	Human	1	name
152149612	CV1535911	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-9G>C	Glucose-6-phosphate transport defect [RCV002157972]	likely benign	11	119027881	119027881	Human	1	name
152138780	CV1563565	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-7C>T	Glucose-6-phosphate transport defect [RCV002200303]	likely benign	11	119027879	119027879	Human	1	name
152099165	CV1627204	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-6C>T	Glucose-6-phosphate transport defect [RCV002095281]	likely benign	11	119026694	119026694	Human	1	name
152096028	CV1661844	deletion	NM_001164277.2(SLC37A4):c.149-6del	Glucose-6-phosphate transport defect [RCV002172462]	likely benign	11	119028432	119028432	Human	1	name
155266486	CV1699052	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+2T>A	Glucose-6-phosphate transport defect [RCV002282846]	likely pathogenic	11	119029220	119029220	Human	1	name
10042259	CV186809	single nucleotide variant	NM_001164277.2(SLC37A4):c.381+1G>A	Glucose-6-phosphate transport defect [RCV000169418]	pathogenic\|likely pathogenic	11	119028193	119028193	Human	1	name
156277182	CV1900304	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-4G>A	Glucose-6-phosphate transport defect [RCV003086988]	likely benign\|uncertain significance	11	119025333	119025333	Human	1	name
156414256	CV1915875	single nucleotide variant	NM_001164277.2(SLC37A4):c.381+5G>A	Glucose-6-phosphate transport defect [RCV002588502]	uncertain significance	11	119028189	119028189	Human	1	name
156446683	CV1948035	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+8C>T	Glucose-6-phosphate transport defect [RCV003118195]	likely benign	11	119027620	119027620	Human	1	name
156182178	CV2020525	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-5C>T	Glucose-6-phosphate transport defect [RCV002710816]	likely benign	11	119027877	119027877	Human	1	name
155935562	CV2023939	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+9G>C	Glucose-6-phosphate transport defect [RCV002774842]	likely benign\|uncertain significance	11	119025958	119025958	Human	1	name
156331181	CV2065403	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+1G>A	Glucose-6-phosphate transport defect [RCV002835308]	likely pathogenic	11	119026602	119026602	Human	1	name
155963038	CV2089215	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-2A>C	Glucose-6-phosphate transport defect [RCV002881115]	likely pathogenic	11	119026690	119026690	Human	1	name
156262912	CV2095518	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-4A>G	Glucose-6-phosphate transport defect [RCV002895648]	likely benign	11	119026084	119026084	Human	1	name
156366220	CV2130660	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-9T>C	Glucose-6-phosphate transport defect [RCV002967326]	likely benign\|uncertain significance	11	119028435	119028435	Human	1	name
156167981	CV2190143	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-1G>A	Glucose-6-phosphate transport defect [RCV003040942]	likely pathogenic	11	119026081	119026081	Human	1	name
8559650	CV21970	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+1G>T	Glucose-6-phosphate transport defect [RCV000007343]	pathogenic	11	119026602	119026602	Human	1	name
8559651	CV21971	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+1G>A	Glucose-6-phosphate transport defect [RCV000007344]\|Phosphate transport defect [RCV002223174]\|Phosphate transport defect [RCV002496291]	pathogenic\|likely pathogenic	11	119029221	119029221	Human	3	name
11636823	CV270315	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-7A>G	Glucose-6-phosphate transport defect [RCV001273739]\|not provided [RCV000725786]\|not specified [RCV000275403]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026695	119026695	Human	1	name
401949158	CV2836528	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-1G>C	Glucose-6-phosphate transport defect [RCV003472925]	pathogenic	11	119025330	119025330	Human	1	name
401949170	CV2836540	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-1G>T	Glucose-6-phosphate transport defect [RCV003472937]	likely pathogenic	11	119027873	119027873	Human	1	name
402495158	CV2877497	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-9C>T	Glucose-6-phosphate transport defect [RCV003508096]	likely benign	11	119027104	119027104	Human	1	name
402484379	CV2906897	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-8A>G	Glucose-6-phosphate transport defect [RCV003506829]	likely benign	11	119026088	119026088	Human	1	name
405130147	CV2942561	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-4A>C	Glucose-6-phosphate transport defect [RCV003618190]	likely benign	11	119026084	119026084	Human	1	name
405130618	CV2954095	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-1G>A	Glucose-6-phosphate transport defect [RCV003618240]	likely pathogenic	11	119025330	119025330	Human	1	name
405132279	CV2956128	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-2A>G	Glucose-6-phosphate transport defect [RCV003618302]	pathogenic	11	119028428	119028428	Human	1	name
405130737	CV2958171	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-8A>G	Glucose-6-phosphate transport defect [RCV003618253]	likely benign	11	119027103	119027103	Human	1	name
405131561	CV2963778	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-7C>T	Glucose-6-phosphate transport defect [RCV003618317]	likely benign	11	119027102	119027102	Human	1	name
405133474	CV2988733	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-8C>G	Glucose-6-phosphate transport defect [RCV003618568]	likely benign	11	119028434	119028434	Human	1	name
405124390	CV3006354	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-2A>G	Glucose-6-phosphate transport defect [RCV003617465]	likely pathogenic	11	119027874	119027874	Human	1	name
11620921	CV324620	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-6C>A	Glycogen storage disease, type I [RCV000342812]	uncertain significance	11	119027878	119027878	Human	1	name
12848015	CV371263	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+6A>T	Glucose-6-phosphate transport defect [RCV000634551]\|not specified [RCV000444523]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026931	119026931	Human	1	name
597888894	CV3739320	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+5G>T	Glucose-6-phosphate transport defect [RCV005070867]	uncertain significance	11	119026932	119026932	Human	1	name
13790195	CV545560	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-2A>C	Glucose-6-phosphate transport defect [RCV000666410]	likely pathogenic	11	119026082	119026082	Human	1	name
13785543	CV545613	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-3C>T	Glucose-6-phosphate transport defect [RCV000672114]	uncertain significance	11	119027098	119027098	Human	1	name
13788350	CV545701	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-6C>T	Glucose-6-phosphate transport defect [RCV000673917]	uncertain significance	11	119027878	119027878	Human	1	name
13787281	CV545722	single nucleotide variant	NM_001164277.2(SLC37A4):c.381+4A>G	Glucose-6-phosphate transport defect [RCV000673372]	uncertain significance	11	119028190	119028190	Human	1	name
13786523	CV545754	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-6C>G	Glucose-6-phosphate transport defect [RCV000672879]	uncertain significance	11	119028432	119028432	Human	1	name
13786805	CV545756	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-7C>T	Glucose-6-phosphate transport defect [RCV000673115]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119028433	119028433	Human	1	name
13786829	CV545781	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+2T>C	Glucose-6-phosphate transport defect [RCV000664487]	pathogenic\|likely pathogenic	11	119029220	119029220	Human	1	name
13784912	CV545864	deletion	NM_001164277.2(SLC37A4):c.986-4del	Glucose-6-phosphate transport defect [RCV000671398]	uncertain significance	11	119025333	119025333	Human	1	name
13789344	CV545906	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+3A>G	Glucose-6-phosphate transport defect [RCV000674461]	uncertain significance	11	119025964	119025964	Human	1	name
13785926	CV545941	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+6C>G	Glucose-6-phosphate transport defect [RCV000672378]	uncertain significance	11	119026597	119026597	Human	1	name
13789441	CV545945	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+5G>A	Glucose-6-phosphate transport defect [RCV000674514]	uncertain significance	11	119026598	119026598	Human	1	name
13790916	CV546005	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+7C>T	Glucose-6-phosphate transport defect [RCV000666887]	likely benign	11	119027621	119027621	Human	1	name
13787212	CV546013	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-4A>C	Glucose-6-phosphate transport defect [RCV000673333]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119027876	119027876	Human	1	name
13783319	CV546045	deletion	NM_001164277.2(SLC37A4):c.382-1del	Glucose-6-phosphate transport defect [RCV000669975]	likely pathogenic	11	119027873	119027873	Human	1	name
13788870	CV546048	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-3C>G	Glucose-6-phosphate transport defect [RCV000674203]	uncertain significance	11	119027875	119027875	Human	1	name
13784347	CV546174	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-8C>T	Glucose-6-phosphate transport defect [RCV000670771]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025337	119025337	Human	1	name
13788346	CV546237	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-6C>G	Glucose-6-phosphate transport defect [RCV000673914]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026086	119026086	Human	1	name
13792215	CV546249	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+7G>A	Glucose-6-phosphate transport defect [RCV000668432]	likely benign	11	119026596	119026596	Human	1	name
13788791	CV546250	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+6C>T	Glucose-6-phosphate transport defect [RCV000665588]\|not specified [RCV003155265]	uncertain significance	11	119026597	119026597	Human	1	name
13791995	CV546262	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+8G>A	Glucose-6-phosphate transport defect [RCV000668160]	likely benign	11	119026929	119026929	Human	1	name
13792327	CV546292	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+6C>T	Glucose-6-phosphate transport defect [RCV000668576]\|not specified [RCV005240430]	uncertain significance	11	119027622	119027622	Human	1	name
13784490	CV546294	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+4A>C	Glucose-6-phosphate transport defect [RCV000670897]	uncertain significance	11	119027624	119027624	Human	1	name
13792432	CV546337	single nucleotide variant	NM_001164277.2(SLC37A4):c.381+8C>T	Glucose-6-phosphate transport defect [RCV000668704]	likely benign	11	119028186	119028186	Human	1	name
13786338	CV546378	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-3C>T	Glucose-6-phosphate transport defect [RCV000672748]\|Phosphate transport defect [RCV002485558]	uncertain significance	11	119028429	119028429	Human	3	name
14691087	CV621806	single nucleotide variant	NM_001164277.2(SLC37A4):c.381+2T>G	Glucose-6-phosphate transport defect [RCV000781850]\|not provided [RCV001268012]	pathogenic\|likely pathogenic	11	119028192	119028192	Human	1	name
14715018	CV652102	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+2T>G	Glucose-6-phosphate transport defect [RCV000811087]	likely pathogenic	11	119026935	119026935	Human	1	name
14742323	CV652156	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+6C>T	Glucose-6-phosphate transport defect [RCV000822719]	uncertain significance	11	119029216	119029216	Human	1	name
14738218	CV652307	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+3A>G	Glucose-6-phosphate transport defect [RCV000820831]\|SLC37A4-related disorder [RCV004753051]\|not provided [RCV003141851]	uncertain significance	11	119026934	119026934	Human	1	name , alternate_id
14718759	CV652496	single nucleotide variant	NM_001164277.2(SLC37A4):c.381+1G>T	Glucose-6-phosphate transport defect [RCV000812333]	pathogenic	11	119028193	119028193	Human	1	name
15118538	CV787902	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+9C>T	Glucose-6-phosphate transport defect [RCV000978968]	likely benign	11	119027619	119027619	Human	1	name
28902061	CV868609	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+7C>T	Glycogen storage disease, type I [RCV001104509]	uncertain significance	11	119029215	119029215	Human	1	name
38464811	CV959978	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-1G>A	Glucose-6-phosphate transport defect [RCV001230044]	likely pathogenic	11	119026689	119026689	Human	1	name
38499485	CV960745	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+4A>G	Glucose-6-phosphate transport defect [RCV001244693]	uncertain significance	11	119029218	119029218	Human	1	name
40816227	CV969164	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+1G>T	Glucose-6-phosphate transport defect [RCV001260430]	pathogenic	11	119029221	119029221	Human	1	name
41408190	CV980943	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+1G>A	Glucose-6-phosphate transport defect [RCV001283783]	pathogenic\|likely pathogenic	11	119025966	119025966	Human	1	name
126762537	CV994345	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+5G>A	Glucose-6-phosphate transport defect [RCV001309918]	uncertain significance	11	119027623	119027623	Human	1	name
127302322	CV1121103	deletion	NM_001164277.2(SLC37A4):c.1125-6del	Glucose-6-phosphate transport defect [RCV001461591]	likely benign	11	119025082	119025082	Human	1	name
127299479	CV1121106	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+10A>G	Glucose-6-phosphate transport defect [RCV001453599]	likely benign	11	119025957	119025957	Human	1	name
127327225	CV1141942	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-10C>T	Glucose-6-phosphate transport defect [RCV001486272]	likely benign	11	119026698	119026698	Human	1	name
127290939	CV1156591	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+16G>A	Glucose-6-phosphate transport defect [RCV001510093]	benign	11	119027612	119027612	Human	1	name
150420428	CV1180771	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+56G>A	not provided [RCV001551539]	likely benign	11	119026547	119026547	Human		name
150453445	CV1219833	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+76C>T	not provided [RCV001612214]	benign	11	119027552	119027552	Human		name
150433408	CV1230516	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-82G>A	not provided [RCV001643461]	benign	11	119028508	119028508	Human		name
150444499	CV1233025	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+51G>A	not provided [RCV001645698]	benign	11	119026552	119026552	Human		name
150505821	CV1242062	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-74T>C	not provided [RCV001658413]	benign	11	119026762	119026762	Human		name
150482913	CV1247532	single nucleotide variant	NM_001164277.2(SLC37A4):c.-699-7C>G	not provided [RCV001673358]	likely benign	11	119030742	119030742	Human		name
150448558	CV1253570	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+50C>T	not provided [RCV001667498]	benign	11	119026553	119026553	Human		name
150493387	CV1281906	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-77T>G	not provided [RCV001716999]	benign	11	119025406	119025406	Human		name
150478281	CV1281907	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-76T>C	not provided [RCV001714269]	benign	11	119025405	119025405	Human		name
150535470	CV1311900	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-92T>C	not provided [RCV001779710]	likely benign	11	119025421	119025421	Human		name
150535908	CV1312095	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-91C>G	not provided [RCV001779907]	likely benign	11	119025420	119025420	Human		name
151233227	CV1317011	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-21T>C	not provided [RCV001786831]	likely benign	11	119026101	119026101	Human		name
151761576	CV1400718	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+5G>A	Glucose-6-phosphate transport defect [RCV002007929]	uncertain significance	11	119025186	119025186	Human	1	name
8692923	CV142889	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-14A>G	Glucose-6-phosphate transport defect [RCV001523428]\|Glycogen storage disease, type I [RCV000303008]\|Phosphate transport defect [RCV001533715]\|Phosphate transport defect [RCV002505099]\|not provided [RCV003736601]\|not specified [RCV000128136]	benign\|likely benign	11	119028440	119028440	Human	4	name
8692926	CV142892	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+14C>T	Glucose-6-phosphate transport defect [RCV001521715]\|Phosphate transport defect [RCV001533714]\|not provided [RCV004708054]\|not specified [RCV000128139]	benign	11	119027614	119027614	Human	2	name
8692927	CV142893	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+19C>T	Glucose-6-phosphate transport defect [RCV001515580]\|Phosphate transport defect [RCV001533713]\|not provided [RCV004706597]\|not specified [RCV000128140]	benign	11	119027609	119027609	Human	2	name
151804454	CV1485536	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+1G>T	Glucose-6-phosphate transport defect [RCV002048277]	pathogenic\|likely pathogenic	11	119025190	119025190	Human	1	name
152150111	CV1531206	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-13C>A	Glucose-6-phosphate transport defect [RCV002201833]	likely benign	11	119025342	119025342	Human	1	name
152135705	CV1560448	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+10C>T	Glucose-6-phosphate transport defect [RCV002137514]	likely benign	11	119027618	119027618	Human	1	name
152086947	CV1578236	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+17G>T	Glucose-6-phosphate transport defect [RCV002171298]	likely benign	11	119026586	119026586	Human	1	name
152124803	CV1580563	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+16G>A	Glucose-6-phosphate transport defect [RCV002082062]	likely benign	11	119029206	119029206	Human	1	name
152101283	CV1606854	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-20C>T	Glucose-6-phosphate transport defect [RCV002195582]	likely benign	11	119027115	119027115	Human	1	name
152085346	CV1663246	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+20C>T	Glucose-6-phosphate transport defect [RCV002171099]	likely benign	11	119025947	119025947	Human	1	name
156256361	CV1977352	duplication	NM_001164277.2(SLC37A4):c.1125-7dup	Glucose-6-phosphate transport defect [RCV002597635]	benign	11	119025082	119025083	Human	1	name
156314240	CV2017868	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+19C>G	Glucose-6-phosphate transport defect [RCV002671808]	likely benign	11	119026584	119026584	Human	1	name
156102255	CV2088058	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-17A>G	Glucose-6-phosphate transport defect [RCV002848126]	likely benign\|uncertain significance	11	119026705	119026705	Human	1	name
156295693	CV2111641	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-3C>A	Glucose-6-phosphate transport defect [RCV002922338]	uncertain significance	11	119025079	119025079	Human	1	name
10410806	CV211492	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-14T>G	Glucose-6-phosphate transport defect [RCV000668559]\|not provided [RCV000198933]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025343	119025343	Human	1	name
156296860	CV2162890	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+19C>G	Glucose-6-phosphate transport defect [RCV003045371]	likely benign	11	119026918	119026918	Human	1	name
401949169	CV2836539	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+1G>A	Glucose-6-phosphate transport defect [RCV003472936]	pathogenic	11	119025190	119025190	Human	1	name
402495087	CV2856676	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+15A>G	Glucose-6-phosphate transport defect [RCV003508088]	likely benign	11	119027613	119027613	Human	1	name
402497429	CV2873277	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+15C>G	Glucose-6-phosphate transport defect [RCV003508364]	likely benign	11	119025952	119025952	Human	1	name
402498041	CV2877010	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-7C>A	Glucose-6-phosphate transport defect [RCV003508406]	likely benign	11	119025083	119025083	Human	1	name
402502081	CV2905051	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+15G>A	Glucose-6-phosphate transport defect [RCV003508846]	likely benign	11	119026588	119026588	Human	1	name
402492887	CV2928890	deletion	NM_001164277.2(SLC37A4):c.626+10del	Glucose-6-phosphate transport defect [RCV003507832]	benign	11	119027618	119027618	Human	1	name
405130436	CV2953662	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-4A>G	Glucose-6-phosphate transport defect [RCV003618221]	likely benign	11	119025080	119025080	Human	1	name
405132289	CV2959823	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+15G>A	Glucose-6-phosphate transport defect [RCV003618301]	likely benign	11	119026922	119026922	Human	1	name
405132773	CV2976885	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+4A>C	Glucose-6-phosphate transport defect [RCV003618469]	uncertain significance	11	119025187	119025187	Human	1	name
405135513	CV2992423	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+10C>G	Glucose-6-phosphate transport defect [RCV003618751]	likely benign	11	119027618	119027618	Human	1	name
405127227	CV3031833	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-17T>C	Glucose-6-phosphate transport defect [RCV003617663]	likely benign	11	119028443	119028443	Human	1	name
405126757	CV3035125	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+18G>A	Glucose-6-phosphate transport defect [RCV003617672]	likely benign	11	119025949	119025949	Human	1	name
405136792	CV3067351	single nucleotide variant	NM_001164277.2(SLC37A4):c.381+18G>T	Glucose-6-phosphate transport defect [RCV003618898]	likely benign	11	119028176	119028176	Human	1	name
405138638	CV3074244	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-16C>T	Glucose-6-phosphate transport defect [RCV003619079]	likely benign	11	119027111	119027111	Human	1	name
405080404	CV3137173	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+20G>C	Glucose-6-phosphate transport defect [RCV003834072]	likely benign	11	119029202	119029202	Human	1	name
405246389	CV3162304	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-11C>T	Glucose-6-phosphate transport defect [RCV003868823]	likely benign	11	119027106	119027106	Human	1	name
405207877	CV3162374	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+17G>A	Glucose-6-phosphate transport defect [RCV003861673]	likely benign	11	119026586	119026586	Human	1	name
405237592	CV3166629	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-18G>C	Glucose-6-phosphate transport defect [RCV003854079]	likely benign	11	119028444	119028444	Human	1	name
404998731	CV3173016	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-20T>G	Glucose-6-phosphate transport defect [RCV003882299]	likely benign	11	119027892	119027892	Human	1	name
11607325	CV318547	single nucleotide variant	NM_001164277.2(SLC37A4):c.-700+9C>T	Glycogen storage disease, type I [RCV000342271]\|SLC37A4-related disorder [RCV003892126]\|not specified [RCV000436849]	likely benign\|uncertain significance	11	119030840	119030840	Human	1	name , alternate_id
12840210	CV371268	single nucleotide variant	NM_001164277.2(SLC37A4):c.381+15A>G	Glucose-6-phosphate transport defect [RCV000667186]\|not specified [RCV000430257]	likely benign	11	119028179	119028179	Human	1	name
597850791	CV3746943	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+15A>G	Glucose-6-phosphate transport defect [RCV005060571]	likely benign	11	119029207	119029207	Human	1	name
597950400	CV3768644	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-13C>T	Glucose-6-phosphate transport defect [RCV005120830]	likely benign	11	119027885	119027885	Human	1	name
597944862	CV3776716	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+18A>T	Glucose-6-phosphate transport defect [RCV005119572]	likely benign	11	119029204	119029204	Human	1	name
597839150	CV3824901	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+20G>A	Glucose-6-phosphate transport defect [RCV005171765]	likely benign	11	119027608	119027608	Human	1	name
597949877	CV3846796	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-3C>G	Glucose-6-phosphate transport defect [RCV005189967]	uncertain significance	11	119025079	119025079	Human	1	name
13786787	CV545469	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+8T>C	Glucose-6-phosphate transport defect [RCV000673105]	likely benign	11	119025183	119025183	Human	1	name
13788973	CV545479	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+7G>A	Glucose-6-phosphate transport defect [RCV000674256]	likely benign	11	119025184	119025184	Human	1	name
13789990	CV545481	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+4A>G	Glucose-6-phosphate transport defect [RCV000674789]	uncertain significance	11	119025187	119025187	Human	1	name
13788138	CV545561	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+13T>C	Glucose-6-phosphate transport defect [RCV000673810]	likely benign	11	119026924	119026924	Human	1	name
13782458	CV545562	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+12A>G	Glucose-6-phosphate transport defect [RCV000668881]	likely benign	11	119026925	119026925	Human	1	name
13782717	CV545614	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-12T>C	Glucose-6-phosphate transport defect [RCV000669216]	uncertain significance	11	119027107	119027107	Human	1	name
13787729	CV545620	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-16C>G	Glucose-6-phosphate transport defect [RCV000673609]	likely benign	11	119027111	119027111	Human	1	name
13791556	CV545622	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+16G>C	Glucose-6-phosphate transport defect [RCV000667599]	likely benign	11	119027612	119027612	Human	1	name
13787130	CV545625	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+13C>T	Glucose-6-phosphate transport defect [RCV000664661]	likely benign	11	119027615	119027615	Human	1	name
13789570	CV545717	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-15C>T	Glucose-6-phosphate transport defect [RCV000666055]	uncertain significance	11	119027887	119027887	Human	1	name
13788240	CV545759	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-16G>A	Glucose-6-phosphate transport defect [RCV000665268]	likely benign	11	119028442	119028442	Human	1	name
13783589	CV545771	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-21T>G	Glucose-6-phosphate transport defect [RCV000670167]	likely benign	11	119028447	119028447	Human	1	name
13788187	CV545776	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-22C>T	Glucose-6-phosphate transport defect [RCV000665241]	likely benign	11	119028448	119028448	Human	1	name
13792120	CV545810	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-1G>A	Glucose-6-phosphate transport defect [RCV000668312]	likely pathogenic	11	119025077	119025077	Human	1	name
13784306	CV545812	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-6T>G	Glucose-6-phosphate transport defect [RCV000670746]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025082	119025082	Human	1	name
13785797	CV545816	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-6T>C	Glucose-6-phosphate transport defect [RCV000672285]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025082	119025082	Human	1	name
13790339	CV545866	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-18C>T	Glucose-6-phosphate transport defect [RCV000666480]	likely benign	11	119025347	119025347	Human	1	name
13782593	CV545870	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-8C>T	Glucose-6-phosphate transport defect [RCV000669053]	uncertain significance	11	119025084	119025084	Human	1	name
13787915	CV545930	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-11T>C	Glucose-6-phosphate transport defect [RCV000673702]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026091	119026091	Human	1	name
13789425	CV545938	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-16G>A	Glucose-6-phosphate transport defect [RCV000674506]	likely benign	11	119026096	119026096	Human	1	name
13784444	CV545940	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-17C>T	Glucose-6-phosphate transport defect [RCV000670839]	likely benign	11	119026097	119026097	Human	1	name
13791767	CV545955	single nucleotide variant	NM_001164277.2(SLC37A4):c.785+16G>A	Glucose-6-phosphate transport defect [RCV000667873]	likely benign	11	119026921	119026921	Human	1	name
13788102	CV545988	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+35C>G	Glucose-6-phosphate transport defect [RCV000665197]	likely benign	11	119027593	119027593	Human	1	name
13782430	CV545995	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+25C>T	Glucose-6-phosphate transport defect [RCV000668843]	likely benign	11	119027603	119027603	Human	1	name
13792159	CV545997	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+11A>T	Glucose-6-phosphate transport defect [RCV000668359]	likely benign	11	119027617	119027617	Human	1	name
13782664	CV546001	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+30G>A	Glucose-6-phosphate transport defect [RCV000669150]	likely benign	11	119027598	119027598	Human	1	name
13788572	CV546014	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-19G>T	Glucose-6-phosphate transport defect [RCV000674035]	likely benign	11	119027891	119027891	Human	1	name
13784158	CV546050	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-10T>C	Glucose-6-phosphate transport defect [RCV000670599]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119027882	119027882	Human	1	name
13787662	CV546052	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-16G>A	Glucose-6-phosphate transport defect [RCV000664970]	likely benign\|conflicting interpretations of pathogenicity	11	119027888	119027888	Human	1	name
13790703	CV546053	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-11G>A	Glucose-6-phosphate transport defect [RCV000666748]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119028437	119028437	Human	1	name
13788198	CV546055	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-20A>G	Glucose-6-phosphate transport defect [RCV000673843]	likely benign	11	119028446	119028446	Human	1	name
13783116	CV546065	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-23C>T	Glucose-6-phosphate transport defect [RCV000669709]	likely benign	11	119028449	119028449	Human	1	name
13785384	CV546067	deletion	NM_001164277.2(SLC37A4):c.149-35del	Glucose-6-phosphate transport defect [RCV000671964]	likely benign	11	119028461	119028461	Human	1	name
13791469	CV546075	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+20G>A	Glucose-6-phosphate transport defect [RCV000667494]\|Phosphate transport defect [RCV002485538]	likely benign\|conflicting interpretations of pathogenicity	11	119029202	119029202	Human	3	name
13785067	CV546175	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-11G>A	Glucose-6-phosphate transport defect [RCV000671586]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025340	119025340	Human	1	name
13784942	CV546177	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-12T>C	Glucose-6-phosphate transport defect [RCV000671430]	uncertain significance	11	119025341	119025341	Human	1	name
13786426	CV546180	single nucleotide variant	NM_001164277.2(SLC37A4):c.986-15C>T	Glucose-6-phosphate transport defect [RCV000672812]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025344	119025344	Human	1	name
13784735	CV546243	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-10G>A	Glucose-6-phosphate transport defect [RCV000671216]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026090	119026090	Human	1	name
13789135	CV546246	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-12C>T	Glucose-6-phosphate transport defect [RCV000674349]	uncertain significance	11	119026092	119026092	Human	1	name
13782951	CV546248	single nucleotide variant	NM_001164277.2(SLC37A4):c.871+19C>T	Glucose-6-phosphate transport defect [RCV000669512]	likely benign	11	119026584	119026584	Human	1	name
13785444	CV546260	single nucleotide variant	NM_001164277.2(SLC37A4):c.786-20A>G	Glucose-6-phosphate transport defect [RCV000672018]	likely benign	11	119026708	119026708	Human	1	name
13786445	CV546283	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+12C>T	Glucose-6-phosphate transport defect [RCV000672825]	likely benign	11	119027616	119027616	Human	1	name
13782855	CV546286	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+10C>A	Glucose-6-phosphate transport defect [RCV000669387]	likely benign	11	119027618	119027618	Human	1	name
13791723	CV546335	single nucleotide variant	NM_001164277.2(SLC37A4):c.382-17C>T	Glucose-6-phosphate transport defect [RCV000667818]	likely benign	11	119027889	119027889	Human	1	name
13817928	CV564453	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+1G>C	Glucose-6-phosphate transport defect [RCV000707348]	pathogenic\|likely pathogenic	11	119025190	119025190	Human	1	name
14691082	CV621805	duplication	NM_001164277.2(SLC37A4):c.1124+2dup	Glucose-6-phosphate transport defect [RCV000781848]\|not specified [RCV003987704]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025188	119025189	Human	1	name
15145727	CV775780	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-9C>T	Glucose-6-phosphate transport defect [RCV001444934]	likely benign	11	119025085	119025085	Human	1	name
150335871	CV1172200	single nucleotide variant	NM_001164277.2(SLC37A4):c.626+102G>A	not provided [RCV001540742]	benign	11	119027526	119027526	Human		name
150424301	CV1184479	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-265C>T	not provided [RCV001556482]	likely benign	11	119028691	119028691	Human		name
150416209	CV1198145	single nucleotide variant	NM_001164277.2(SLC37A4):c.149-264G>A	not provided [RCV001575726]	likely benign	11	119028690	119028690	Human		name
150507694	CV1229153	single nucleotide variant	NM_001164277.2(SLC37A4):c.627-157G>A	not provided [RCV001636024]	benign	11	119027252	119027252	Human		name
150467170	CV1240533	single nucleotide variant	NM_001164277.2(SLC37A4):c.-700+31A>C	not provided [RCV001650294]	benign	11	119030818	119030818	Human		name
150504076	CV1240682	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+174G>A	not provided [RCV001657525]	benign	11	119029048	119029048	Human		name
150443927	CV1264660	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-169C>T	not provided [RCV001679644]	benign	11	119026249	119026249	Human		name
150475678	CV1279106	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+215C>T	not provided [RCV001713875]	benign	11	119029007	119029007	Human		name
150498274	CV1281903	single nucleotide variant	NM_001164277.2(SLC37A4):c.-195-89C>T	not provided [RCV001717991]	benign	11	119029653	119029653	Human		name
150521020	CV1290787	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+332T>C	not provided [RCV001732446]	likely benign	11	119028890	119028890	Human	1	name
150521020	CV1290787	single nucleotide variant	NM_001164277.2(SLC37A4):c.148+332T>C	not provided [RCV001732446]	likely benign	11	119028890	119028891	Human	1	name
150535620	CV1311952	single nucleotide variant	NM_001164277.2(SLC37A4):c.872-123G>C	not provided [RCV001779762]	likely benign	11	119026203	119026203	Human		name
152045924	CV1539540	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-12T>A	Glucose-6-phosphate transport defect [RCV002145082]	likely benign	11	119025088	119025088	Human	1	name
155266487	CV1699053	deletion	NM_001164277.2(SLC37A4):c.66_68del	not specified [RCV002282847]	uncertain significance	11	119024842	119024844	Human		name
156129181	CV2084768	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-15C>G	Glucose-6-phosphate transport defect [RCV002871568]	likely benign\|uncertain significance	11	119025091	119025091	Human	1	name
156354496	CV2154122	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+17A>G	Glucose-6-phosphate transport defect [RCV003031129]	likely benign\|uncertain significance	11	119025174	119025174	Human	1	name
401910164	CV2809929	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+247C>T	not provided [RCV003424835]	benign	11	119025720	119025720	Human		name
405130418	CV2953558	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-10C>G	Glucose-6-phosphate transport defect [RCV003618219]	likely benign	11	119025086	119025086	Human	1	name
405045791	CV3154517	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+20G>A	Glucose-6-phosphate transport defect [RCV003849193]	likely benign	11	119025171	119025171	Human	1	name
402520272	CV3179442	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+12C>T	Glucose-6-phosphate transport defect [RCV003879693]	likely benign	11	119025179	119025179	Human	1	name
402491528	CV3182505	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-11C>A	Glucose-6-phosphate transport defect [RCV003876992]	likely benign	11	119025087	119025087	Human	1	name
11656443	CV324638	single nucleotide variant	NM_001164277.2(SLC37A4):c.-195-11G>T	Glycogen storage disease, type I [RCV000333716]	uncertain significance	11	119029575	119029575	Human	1	name
12840634	CV372012	single nucleotide variant	NM_001164277.2(SLC37A4):c.-700+10G>T	not specified [RCV000431088]	likely benign	11	119030839	119030839	Human		name
12845157	CV372217	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+270C>T	Glucose-6-phosphate transport defect [RCV000664889]\|not provided [RCV000439301]	likely benign\|uncertain significance	11	119025697	119025697	Human	1	name
597939331	CV3775322	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+20G>T	Glucose-6-phosphate transport defect [RCV005118148]	likely benign	11	119025171	119025171	Human	1	name
13536393	CV503737	single nucleotide variant	NM_001164277.2(SLC37A4):c.-196+14C>T	not specified [RCV000608933]	likely benign	11	119030218	119030218	Human		name
13792075	CV545453	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-29G>A	Glucose-6-phosphate transport defect [RCV000668259]	likely benign	11	119025105	119025105	Human	1	name
13786004	CV545458	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+57C>T	Glucose-6-phosphate transport defect [RCV000672464]	likely benign	11	119025134	119025134	Human	1	name
13786027	CV545460	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+51T>C	Glucose-6-phosphate transport defect [RCV000672489]	likely benign	11	119025140	119025140	Human	1	name
13786226	CV545466	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+38C>G	Glucose-6-phosphate transport defect [RCV000672663]	likely benign	11	119025153	119025153	Human	1	name
13791859	CV545468	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+18G>C	Glucose-6-phosphate transport defect [RCV000667986]	likely benign	11	119025173	119025173	Human	1	name
13783757	CV545515	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+276G>A	Glucose-6-phosphate transport defect [RCV000670312]	likely benign	11	119025691	119025691	Human	1	name
13788317	CV545518	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+271A>C	Glucose-6-phosphate transport defect [RCV000673899]	uncertain significance	11	119025696	119025696	Human	1	name
13787673	CV545525	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+259G>C	Glucose-6-phosphate transport defect [RCV000673582]	uncertain significance	11	119025708	119025708	Human	1	name
13790681	CV545526	duplication	NM_001164277.2(SLC37A4):c.985+238dup	Glucose-6-phosphate transport defect [RCV000666728]	likely benign	11	119025728	119025729	Human	1	name
13784181	CV545528	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+234C>T	Glucose-6-phosphate transport defect [RCV000670613]	likely benign	11	119025733	119025733	Human	1	name
13784476	CV545530	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+206C>T	Glucose-6-phosphate transport defect [RCV000670878]	likely benign	11	119025761	119025761	Human	1	name
13787069	CV545822	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-41C>T	Glucose-6-phosphate transport defect [RCV000673260]	likely benign	11	119025117	119025117	Human	1	name
13788451	CV545823	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+49C>T	Glucose-6-phosphate transport defect [RCV000673970]	likely benign	11	119025142	119025142	Human	1	name
13785678	CV545825	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+38C>T	Glucose-6-phosphate transport defect [RCV000672209]	likely benign	11	119025153	119025153	Human	1	name
13791904	CV545869	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+290T>C	Glucose-6-phosphate transport defect [RCV000668044]	likely benign	11	119025677	119025677	Human	1	name
13782883	CV545872	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+288T>G	Glucose-6-phosphate transport defect [RCV000669431]	likely benign	11	119025679	119025679	Human	1	name
13785648	CV545875	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+283A>G	Glucose-6-phosphate transport defect [RCV000672188]	likely benign	11	119025684	119025684	Human	1	name
13785120	CV545876	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-14T>C	Glucose-6-phosphate transport defect [RCV000671653]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025090	119025090	Human	1	name
13783994	CV545877	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-44G>A	Glucose-6-phosphate transport defect [RCV000670474]	likely benign	11	119025120	119025120	Human	1	name
13783117	CV545878	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+278G>A	Glucose-6-phosphate transport defect [RCV000669710]	likely benign	11	119025689	119025689	Human	1	name
13785924	CV545881	single nucleotide variant	NM_001164277.2(SLC37A4):c.1125-53G>A	Glucose-6-phosphate transport defect [RCV000672375]	likely benign	11	119025129	119025129	Human	1	name
13787991	CV545882	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+26C>T	Glucose-6-phosphate transport defect [RCV000665140]	likely benign	11	119025165	119025165	Human	1	name
13791741	CV545884	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+25T>C	Glucose-6-phosphate transport defect [RCV000667841]	likely benign	11	119025166	119025166	Human	1	name
13789626	CV545887	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+259G>A	Glucose-6-phosphate transport defect [RCV000674602]	uncertain significance	11	119025708	119025708	Human	1	name
13784899	CV545896	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+295G>A	Glucose-6-phosphate transport defect [RCV000671384]	likely benign	11	119025672	119025672	Human	1	name
13791414	CV545897	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+246G>A	Glucose-6-phosphate transport defect [RCV000667431]	likely benign	11	119025721	119025721	Human	1	name
13786506	CV545898	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+245C>T	Glucose-6-phosphate transport defect [RCV000672858]	likely benign	11	119025722	119025722	Human	1	name
13784480	CV545900	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+244T>G	Glucose-6-phosphate transport defect [RCV000670883]	uncertain significance	11	119025723	119025723	Human	1	name
13792208	CV545902	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+252C>G	Glucose-6-phosphate transport defect [RCV000668424]	likely benign	11	119025715	119025715	Human	1	name
13789623	CV545903	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+248G>A	Glucose-6-phosphate transport defect [RCV000666084]	likely benign	11	119025719	119025719	Human	1	name
13788560	CV545905	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+226C>T	Glucose-6-phosphate transport defect [RCV000665451]	likely benign	11	119025741	119025741	Human	1	name
13782907	CV545910	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+217C>T	Glucose-6-phosphate transport defect [RCV000669459]	likely benign	11	119025750	119025750	Human	1	name
13791194	CV546121	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+55G>A	Glucose-6-phosphate transport defect [RCV000667192]	likely benign	11	119025136	119025136	Human	1	name
13790041	CV546131	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+36C>G	Glucose-6-phosphate transport defect [RCV000666315]	likely benign	11	119025155	119025155	Human	1	name
13785064	CV546132	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+36C>A	Glucose-6-phosphate transport defect [RCV000671582]	likely benign	11	119025155	119025155	Human	1	name
13785811	CV546137	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124+34C>T	Glucose-6-phosphate transport defect [RCV000672292]	likely benign	11	119025157	119025157	Human	1	name
13787667	CV546181	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+286G>A	Glucose-6-phosphate transport defect [RCV000673578]	likely benign	11	119025681	119025681	Human	1	name
13782735	CV546192	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+241C>G	Glucose-6-phosphate transport defect [RCV000669237]	uncertain significance	11	119025726	119025726	Human	1	name
13787416	CV546202	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+228C>G	Glucose-6-phosphate transport defect [RCV000664828]\|Phosphate transport defect [RCV005392266]\|SLC37A4-related disorder [RCV003953225]	likely benign\|uncertain significance	11	119025739	119025739	Human	3	name , alternate_id
13788813	CV546204	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+219T>C	Glucose-6-phosphate transport defect [RCV000674167]	uncertain significance	11	119025748	119025748	Human	1	name
13788150	CV546206	deletion	NM_001164277.2(SLC37A4):c.985+196del	Glucose-6-phosphate transport defect [RCV000673816]	likely benign	11	119025771	119025771	Human	1	name
13790716	CV546214	single nucleotide variant	NM_001164277.2(SLC37A4):c.985+195C>T	Glucose-6-phosphate transport defect [RCV000666760]	likely benign	11	119025772	119025772	Human	1	name
15108364	CV779515	single nucleotide variant	NM_001164277.2(SLC37A4):c.-195-64C>T	Glucose-6-phosphate transport defect [RCV000960474]\|not provided [RCV001595058]	benign	11	119029628	119029628	Human	1	name
38496358	CV951976	deletion	NM_001164277.1(SLC37A4):c.529_533del	Glucose-6-phosphate transport defect [RCV001226341]	pathogenic\|likely pathogenic				Human	1	name
150498003	CV1236453	single nucleotide variant	NM_001164277.2(SLC37A4):c.-195-136A>C	not provided [RCV001656178]	benign	11	119029700	119029700	Human		name
150423263	CV1184478	deletion	NM_001164277.2(SLC37A4):c.786-3_787del	Glucose-6-phosphate transport defect [RCV003617930]\|not provided [RCV001555085]	pathogenic	11	119026687	119026691	Human	1	name
401949167	CV2836537	duplication	NM_001164277.2(SLC37A4):c.872-7_873dup	Glucose-6-phosphate transport defect [RCV003472934]	pathogenic	11	119026078	119026079	Human	1	name
402490809	CV2854644	deletion	NM_001164277.2(SLC37A4):c.872-8_881del	Glucose-6-phosphate transport defect [RCV003507617]	likely pathogenic	11	119026071	119026088	Human	1	name
13785545	CV545862	deletion	NM_001164277.2(SLC37A4):c.986-3_989del	Glucose-6-phosphate transport defect [RCV000672116]	likely pathogenic	11	119025326	119025332	Human	1	name
405124123	CV3015837	deletion	NM_001164277.2(SLC37A4):c.148+7_148+8del	Glucose-6-phosphate transport defect [RCV003617434]	likely benign	11	119029214	119029215	Human	1	name
127316607	CV1121117	single nucleotide variant	NM_001164277.2(SLC37A4):c.15C>T (p.Gly5=)	Glucose-6-phosphate transport defect [RCV001465585]	likely benign	11	119029355	119029355	Human	1	name
152125256	CV1532309	single nucleotide variant	NM_001164277.2(SLC37A4):c.27T>C (p.Tyr9=)	Glucose-6-phosphate transport defect [RCV002118371]	likely benign	11	119029343	119029343	Human	1	name
13791322	CV545800	single nucleotide variant	NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=)	Glucose-6-phosphate transport defect [RCV000667329]	likely benign	11	119029355	119029355	Human	1	name
13791886	CV545928	duplication	NM_001164277.2(SLC37A4):c.872-15_872-9dup	Glucose-6-phosphate transport defect [RCV000668018]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026088	119026089	Human	1	name
13818034	CV567070	single nucleotide variant	NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)	Glucose-6-phosphate transport defect [RCV000707421]\|Inborn genetic diseases [RCV002424728]	likely benign\|uncertain significance	11	119029349	119029349	Human	2	name
127311484	CV1141956	single nucleotide variant	NM_001164277.2(SLC37A4):c.87G>A (p.Lys29=)	Glucose-6-phosphate transport defect [RCV001501622]	likely benign	11	119029283	119029283	Human	1	name
127285830	CV1141957	single nucleotide variant	NM_001164277.2(SLC37A4):c.63C>T (p.Tyr21=)	Glucose-6-phosphate transport defect [RCV001493742]	likely benign	11	119029307	119029307	Human	1	name
150546714	CV1291621	deletion	NM_001164277.2(SLC37A4):c.1124+3_1124+6del	Glucose-6-phosphate transport defect [RCV001733377]\|Phosphate transport defect [RCV002274201]	pathogenic\|likely pathogenic	11	119025185	119025188	Human	2	name
151767789	CV1450700	deletion	NM_001164277.2(SLC37A4):c.11del (p.Gln4fs)	Glucose-6-phosphate transport defect [RCV001929223]	pathogenic	11	119029359	119029359	Human	1	name
152097141	CV1558102	single nucleotide variant	NM_001164277.2(SLC37A4):c.78C>T (p.Phe26=)	Glucose-6-phosphate transport defect [RCV002172612]	likely benign	11	119029292	119029292	Human	1	name
152147454	CV1647279	single nucleotide variant	NM_001164277.2(SLC37A4):c.69G>A (p.Leu23=)	Glucose-6-phosphate transport defect [RCV002201448]	likely benign	11	119029301	119029301	Human	1	name
152114687	CV1659675	single nucleotide variant	NM_001164277.2(SLC37A4):c.66C>T (p.Ser22=)	Glucose-6-phosphate transport defect [RCV002080730]	likely benign	11	119029304	119029304	Human	1	name
10042277	CV186810	single nucleotide variant	NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)	Glucose-6-phosphate transport defect [RCV000169589]	pathogenic\|likely pathogenic	11	119029369	119029369	Human	1	name
402501853	CV2898402	single nucleotide variant	NM_001164277.2(SLC37A4):c.60C>T (p.Gly20=)	Glucose-6-phosphate transport defect [RCV003508818]	likely benign	11	119029310	119029310	Human	1	name
405131625	CV2975276	single nucleotide variant	NM_001164277.2(SLC37A4):c.60C>A (p.Gly20=)	Glucose-6-phosphate transport defect [RCV003618370]	likely benign	11	119029310	119029310	Human	1	name
405126354	CV3039506	deletion	NM_001164277.2(SLC37A4):c.786-22_786-13del	Glucose-6-phosphate transport defect [RCV003617715]	likely benign	11	119026701	119026710	Human	1	name
597896550	CV3854075	single nucleotide variant	NM_001164277.2(SLC37A4):c.54T>C (p.Phe18=)	Glucose-6-phosphate transport defect [RCV005201359]	likely benign	11	119029316	119029316	Human	1	name
597897717	CV3854420	single nucleotide variant	NM_001164277.2(SLC37A4):c.3G>C (p.Met1Ile)	Glucose-6-phosphate transport defect [RCV005201527]	pathogenic	11	119029367	119029367	Human	1	name
13788065	CV545451	deletion	NM_001164277.2(SLC37A4):c.1125-7_1125-6del	Glucose-6-phosphate transport defect [RCV000665177]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025082	119025083	Human	1	name
13786438	CV545793	single nucleotide variant	NM_001164277.2(SLC37A4):c.45A>T (p.Ser15=)	Glucose-6-phosphate transport defect [RCV000672820]	likely benign	11	119029325	119029325	Human	1	name
13791193	CV545805	single nucleotide variant	NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)	Glucose-6-phosphate transport defect [RCV000667188]	uncertain significance	11	119029366	119029366	Human	1	name
13782551	CV545983	microsatellite	NM_001164277.2(SLC37A4):c.786-18_786-16del	Glucose-6-phosphate transport defect [RCV000669001]	likely benign	11	119026704	119026706	Human		name
13782960	CV546101	single nucleotide variant	NM_001164277.2(SLC37A4):c.96C>T (p.Ser32=)	Glucose-6-phosphate transport defect [RCV000669522]	likely benign	11	119029274	119029274	Human	1	name
13791686	CV546114	single nucleotide variant	NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro)	Glucose-6-phosphate transport defect [RCV000667771]	uncertain significance	11	119029363	119029363	Human	1	name
15106892	CV752471	single nucleotide variant	NM_001164277.2(SLC37A4):c.84C>G (p.Arg28=)	Glucose-6-phosphate transport defect [RCV000915845]	likely benign	11	119029286	119029286	Human	1	name
21070176	CV789809	deletion	NM_001164277.2(SLC37A4):c.527= (p.Cys176=)	Glucose-6-phosphate transport defect [RCV001516166]\|not provided [RCV000986138]	benign	11	119027726	119027726	Human	1	name
28902065	CV867116	single nucleotide variant	NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=)	Glucose-6-phosphate transport defect [RCV001426217]\|Glycogen storage disease, type I [RCV001104510]	likely benign\|uncertain significance	11	119029325	119029325	Human	2	name
126764929	CV1009539	single nucleotide variant	NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)	Glucose-6-phosphate transport defect [RCV001319846]\|Phosphate transport defect [RCV002486269]	likely benign\|uncertain significance	11	119028311	119028311	Human	3	name
126727924	CV1030097	single nucleotide variant	NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)	Glucose-6-phosphate transport defect [RCV001348806]\|Phosphate transport defect [RCV002486432]\|SLC37A4-related disorder [RCV003405582]	uncertain significance	11	119029357	119029357	Human	3	name , alternate_id
127271255	CV1077916	single nucleotide variant	NM_001164277.2(SLC37A4):c.264C>A (p.Gly88=)	Glucose-6-phosphate transport defect [RCV001405291]	likely benign	11	119028311	119028311	Human	1	name
127252548	CV1077917	single nucleotide variant	NM_001164277.2(SLC37A4):c.237C>T (p.Leu79=)	Glucose-6-phosphate transport defect [RCV001418103]	likely benign	11	119028338	119028338	Human	1	name
127272434	CV1077918	single nucleotide variant	NM_001164277.2(SLC37A4):c.207G>A (p.Val69=)	Glucose-6-phosphate transport defect [RCV001405714]	likely benign	11	119028368	119028368	Human	1	name
127238768	CV1077919	single nucleotide variant	NM_001164277.2(SLC37A4):c.153C>T (p.Phe51=)	Glucose-6-phosphate transport defect [RCV001392532]	likely benign	11	119028422	119028422	Human	1	name
127232442	CV1099561	single nucleotide variant	NM_001164277.2(SLC37A4):c.186C>T (p.Ile62=)	Glucose-6-phosphate transport defect [RCV001421313]	likely benign	11	119028389	119028389	Human	1	name
127263594	CV1099562	single nucleotide variant	NM_001164277.2(SLC37A4):c.141T>C (p.Asp47=)	Glucose-6-phosphate transport defect [RCV001428596]	likely benign	11	119029229	119029229	Human	1	name
127257213	CV1099563	single nucleotide variant	NM_001164277.2(SLC37A4):c.112T>C (p.Leu38=)	Glucose-6-phosphate transport defect [RCV001437864]	likely benign	11	119029258	119029258	Human	1	name
127304256	CV1121115	single nucleotide variant	NM_001164277.2(SLC37A4):c.294C>T (p.Ser98=)	Glucose-6-phosphate transport defect [RCV001462168]	likely benign	11	119028281	119028281	Human	1	name
127309460	CV1121116	single nucleotide variant	NM_001164277.2(SLC37A4):c.135C>T (p.Asp45=)	Glucose-6-phosphate transport defect [RCV001463632]	likely benign	11	119029235	119029235	Human	1	name
127334348	CV1141954	single nucleotide variant	NM_001164277.2(SLC37A4):c.210G>T (p.Leu70=)	Glucose-6-phosphate transport defect [RCV001490772]	likely benign	11	119028365	119028365	Human	1	name
127290234	CV1141955	single nucleotide variant	NM_001164277.2(SLC37A4):c.201T>C (p.Ser67=)	Glucose-6-phosphate transport defect [RCV001495917]	likely benign	11	119028374	119028374	Human	1	name
8692924	CV142890	single nucleotide variant	NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=)	Glucose-6-phosphate transport defect [RCV000549381]\|Glycogen storage disease, type I [RCV000406317]\|not provided [RCV004706596]\|not specified [RCV000128137]	benign\|likely benign	11	119028392	119028392	Human	2	name
151727500	CV1488505	single nucleotide variant	NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp)	Glucose-6-phosphate transport defect [RCV001966773]	uncertain significance	11	119029356	119029356	Human	1	name
152175607	CV1526968	single nucleotide variant	NM_001164277.2(SLC37A4):c.159C>G (p.Thr53=)	Glucose-6-phosphate transport defect [RCV002163743]	likely benign	11	119028416	119028416	Human	1	name
152161571	CV1531161	single nucleotide variant	NM_001164277.2(SLC37A4):c.150G>C (p.Gly50=)	Glucose-6-phosphate transport defect [RCV002123293]	likely benign	11	119028425	119028425	Human	1	name
152078866	CV1533299	single nucleotide variant	NM_001164277.2(SLC37A4):c.285C>G (p.Ala95=)	Glucose-6-phosphate transport defect [RCV002092584]	likely benign	11	119028290	119028290	Human	1	name
152161557	CV1534788	single nucleotide variant	NM_001164277.2(SLC37A4):c.165C>T (p.Ser55=)	Glucose-6-phosphate transport defect [RCV002141008]	likely benign	11	119028410	119028410	Human	1	name
152134672	CV1564778	single nucleotide variant	NM_001164277.2(SLC37A4):c.102C>A (p.Val34=)	Glucose-6-phosphate transport defect [RCV002199787]	likely benign	11	119029268	119029268	Human	1	name
152067152	CV1620301	single nucleotide variant	NM_001164277.2(SLC37A4):c.267G>A (p.Leu89=)	Glucose-6-phosphate transport defect [RCV002209499]	likely benign	11	119028308	119028308	Human	1	name
152176573	CV1631581	single nucleotide variant	NM_001164277.2(SLC37A4):c.258G>C (p.Leu86=)	Glucose-6-phosphate transport defect [RCV002164719]	likely benign	11	119028317	119028317	Human	1	name
152128973	CV1639020	single nucleotide variant	NM_001164277.2(SLC37A4):c.231C>G (p.Arg77=)	Glucose-6-phosphate transport defect [RCV002155265]	likely benign	11	119028344	119028344	Human	1	name
152145673	CV1658387	single nucleotide variant	NM_001164277.2(SLC37A4):c.255C>A (p.Leu85=)	Glucose-6-phosphate transport defect [RCV002220003]	likely benign	11	119028320	119028320	Human	1	name
156125678	CV1992958	single nucleotide variant	NM_001164277.2(SLC37A4):c.240C>T (p.Phe80=)	Glucose-6-phosphate transport defect [RCV002623117]	likely benign\|uncertain significance	11	119028335	119028335	Human	1	name
156039022	CV2089540	single nucleotide variant	NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)	Glucose-6-phosphate transport defect [RCV002867363]	likely benign\|uncertain significance	11	119028323	119028323	Human	1	name
156117908	CV2150666	single nucleotide variant	NM_001164277.2(SLC37A4):c.117G>T (p.Val39=)	Glucose-6-phosphate transport defect [RCV003021681]	likely benign	11	119029253	119029253	Human	1	name
156150033	CV2175281	single nucleotide variant	NM_001164277.2(SLC37A4):c.156C>T (p.Ile52=)	Glucose-6-phosphate transport defect [RCV003040340]	likely benign\|uncertain significance	11	119028419	119028419	Human	1	name
402495799	CV2868096	single nucleotide variant	NM_001164277.2(SLC37A4):c.111A>G (p.Ser37=)	Glucose-6-phosphate transport defect [RCV003508192]	likely benign	11	119029259	119029259	Human	1	name
405131065	CV2951758	single nucleotide variant	NM_001164277.2(SLC37A4):c.243T>G (p.Ser81=)	Glucose-6-phosphate transport defect [RCV003618286]	likely benign	11	119028332	119028332	Human	1	name
405134457	CV2987204	single nucleotide variant	NM_001164277.2(SLC37A4):c.195T>C (p.Phe65=)	Glucose-6-phosphate transport defect [RCV003618641]	likely benign	11	119028380	119028380	Human	1	name
405126196	CV3033069	single nucleotide variant	NM_001164277.2(SLC37A4):c.180T>C (p.Tyr60=)	Glucose-6-phosphate transport defect [RCV003617697]	likely benign	11	119028395	119028395	Human	1	name
597868975	CV3803417	single nucleotide variant	NM_001164277.2(SLC37A4):c.243T>C (p.Ser81=)	Glucose-6-phosphate transport defect [RCV005148014]	likely benign	11	119028332	119028332	Human	1	name
598243399	CV3914912	single nucleotide variant	NM_001164277.2(SLC37A4):c.19G>A (p.Gly7Ser)	Inborn genetic diseases [RCV005276701]	uncertain significance	11	119029351	119029351	Human	1	name
13500444	CV461249	single nucleotide variant	NM_001164277.2(SLC37A4):c.174A>G (p.Ala58=)	Glucose-6-phosphate transport defect [RCV001467546]	likely benign	11	119028401	119028401	Human	1	name
13529854	CV504102	single nucleotide variant	NM_001164277.2(SLC37A4):c.150G>T (p.Gly50=)	Glucose-6-phosphate transport defect [RCV000926116]\|not provided [RCV001704735]	likely benign	11	119028425	119028425	Human	1	name
13789223	CV545782	single nucleotide variant	NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=)	Glucose-6-phosphate transport defect [RCV000665860]	likely benign	11	119029232	119029232	Human	1	name
13786924	CV546041	single nucleotide variant	NM_001164277.2(SLC37A4):c.282T>C (p.Phe94=)	Glucose-6-phosphate transport defect [RCV000664541]	likely benign	11	119028293	119028293	Human	1	name
13790657	CV546047	single nucleotide variant	NM_001164277.2(SLC37A4):c.258G>A (p.Leu86=)	Glucose-6-phosphate transport defect [RCV000666712]	likely benign	11	119028317	119028317	Human	1	name
13786885	CV546061	single nucleotide variant	NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=)	Glucose-6-phosphate transport defect [RCV000664519]	likely benign	11	119028284	119028284	Human	1	name
13790349	CV546084	single nucleotide variant	NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His)	Glucose-6-phosphate transport defect [RCV000666485]	uncertain significance	11	119029348	119029348	Human	1	name
13782833	CV546099	single nucleotide variant	NM_001164277.2(SLC37A4):c.108A>C (p.Pro36=)	Glucose-6-phosphate transport defect [RCV000669359]	likely benign	11	119029262	119029262	Human	1	name
13783966	CV546381	single nucleotide variant	NM_001164277.2(SLC37A4):c.144T>C (p.Asp48=)	Glucose-6-phosphate transport defect [RCV000670453]	likely benign	11	119029226	119029226	Human	1	name
15127893	CV768247	single nucleotide variant	NM_001164277.2(SLC37A4):c.171G>A (p.Ser57=)	Glucose-6-phosphate transport defect [RCV000941622]	likely benign	11	119028404	119028404	Human	1	name
26913212	CV838051	single nucleotide variant	NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=)	Glucose-6-phosphate transport defect [RCV001035406]	uncertain significance	11	119028278	119028278	Human	1	name
26913595	CV838053	duplication	NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)	Glucose-6-phosphate transport defect [RCV001036141]\|not provided [RCV002292600]	pathogenic\|likely pathogenic	11	119029310	119029311	Human	1	name
38499049	CV956416	single nucleotide variant	NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys)	Glucose-6-phosphate transport defect [RCV001244202]\|SLC37A4-related disorder [RCV003393913]	uncertain significance	11	119029347	119029347	Human	1	name , alternate_id
38457472	CV956417	single nucleotide variant	NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)	Glucose-6-phosphate transport defect [RCV001246069]\|Inborn genetic diseases [RCV003263897]\|Phosphate transport defect [RCV002480838]	uncertain significance	11	119029357	119029357	Human	4	name
126760339	CV1009541	single nucleotide variant	NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly)	Glucose-6-phosphate transport defect [RCV001318309]	uncertain significance	11	119029342	119029342	Human	1	name
126754683	CV1030096	single nucleotide variant	NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu)	Glucose-6-phosphate transport defect [RCV001338876]	uncertain significance	11	119029285	119029285	Human	1	name
126921677	CV1047070	single nucleotide variant	NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln)	Congenital disorder of glycosylation, type IIw [RCV005253816]\|Glucose-6-phosphate transport defect [RCV001363770]	uncertain significance	11	119029302	119029302	Human	2	name
127254945	CV1077912	single nucleotide variant	NM_001164277.2(SLC37A4):c.777C>T (p.Ala259=)	Glucose-6-phosphate transport defect [RCV001400894]	likely benign	11	119026944	119026944	Human	1	name
127281041	CV1077913	single nucleotide variant	NM_001164277.2(SLC37A4):c.699C>T (p.Tyr233=)	Glucose-6-phosphate transport defect [RCV001410185]	likely benign	11	119027022	119027022	Human	1	name
127241465	CV1077914	single nucleotide variant	NM_001164277.2(SLC37A4):c.633G>A (p.Leu211=)	Glucose-6-phosphate transport defect [RCV001397992]	likely benign	11	119027088	119027088	Human	1	name
127263482	CV1077915	single nucleotide variant	NM_001164277.2(SLC37A4):c.318C>G (p.Leu106=)	Glucose-6-phosphate transport defect [RCV001403015]	likely benign	11	119028257	119028257	Human	1	name
127273853	CV1099555	single nucleotide variant	NM_001164277.2(SLC37A4):c.963A>G (p.Thr321=)	Glucose-6-phosphate transport defect [RCV001431739]	likely benign	11	119025988	119025988	Human	1	name
127271457	CV1099556	single nucleotide variant	NM_001164277.2(SLC37A4):c.939G>A (p.Val313=)	Glucose-6-phosphate transport defect [RCV001441845]	likely benign	11	119026012	119026012	Human	1	name
127282677	CV1099557	single nucleotide variant	NM_001164277.2(SLC37A4):c.543C>T (p.Phe181=)	Glucose-6-phosphate transport defect [RCV001448032]	likely benign	11	119027710	119027710	Human	1	name
127265711	CV1099558	single nucleotide variant	NM_001164277.2(SLC37A4):c.507G>A (p.Leu169=)	Glucose-6-phosphate transport defect [RCV001440054]	likely benign	11	119027747	119027747	Human	1	name
127243113	CV1099559	single nucleotide variant	NM_001164277.2(SLC37A4):c.504G>A (p.Thr168=)	Glucose-6-phosphate transport defect [RCV001423889]	likely benign	11	119027750	119027750	Human	1	name
127254937	CV1099560	single nucleotide variant	NM_001164277.2(SLC37A4):c.390G>A (p.Glu130=)	Glucose-6-phosphate transport defect [RCV001437369]	likely benign	11	119027864	119027864	Human	1	name
127330902	CV1121108	single nucleotide variant	NM_001164277.2(SLC37A4):c.834C>T (p.Ile278=)	Glucose-6-phosphate transport defect [RCV001471228]	likely benign	11	119026639	119026639	Human	1	name
127334045	CV1121109	single nucleotide variant	NM_001164277.2(SLC37A4):c.762G>A (p.Glu254=)	Glucose-6-phosphate transport defect [RCV001473339]	likely benign	11	119026959	119026959	Human	1	name
127294866	CV1121110	single nucleotide variant	NM_001164277.2(SLC37A4):c.594C>T (p.Asn198=)	Glucose-6-phosphate transport defect [RCV001476956]	likely benign	11	119027659	119027659	Human	1	name
127328861	CV1121111	single nucleotide variant	NM_001164277.2(SLC37A4):c.537C>T (p.Val179=)	Glucose-6-phosphate transport defect [RCV001469849]	likely benign	11	119027716	119027716	Human	1	name
127331180	CV1121112	single nucleotide variant	NM_001164277.2(SLC37A4):c.483G>A (p.Gln161=)	Glucose-6-phosphate transport defect [RCV001471369]	likely benign	11	119027771	119027771	Human	1	name
127336195	CV1121113	single nucleotide variant	NM_001164277.2(SLC37A4):c.399G>A (p.Gln133=)	Glucose-6-phosphate transport defect [RCV001474814]	likely benign	11	119027855	119027855	Human	1	name
127297946	CV1121114	single nucleotide variant	NM_001164277.2(SLC37A4):c.345G>T (p.Gly115=)	Glucose-6-phosphate transport defect [RCV001477758]	likely benign	11	119028230	119028230	Human	1	name
127329112	CV1141941	single nucleotide variant	NM_001164277.2(SLC37A4):c.804C>T (p.Ala268=)	Glucose-6-phosphate transport defect [RCV001487235]	likely benign	11	119026669	119026669	Human	1	name
127327837	CV1141943	single nucleotide variant	NM_001164277.2(SLC37A4):c.756C>T (p.Ile252=)	Glucose-6-phosphate transport defect [RCV001486497]\|Inborn genetic diseases [RCV004037265]	likely benign	11	119026965	119026965	Human	2	name
127306280	CV1141944	single nucleotide variant	NM_001164277.2(SLC37A4):c.675C>T (p.Tyr225=)	Glucose-6-phosphate transport defect [RCV001480007]	likely benign	11	119027046	119027046	Human	1	name
127301866	CV1141945	single nucleotide variant	NM_001164277.2(SLC37A4):c.666G>C (p.Leu222=)	Glucose-6-phosphate transport defect [RCV001478815]	likely benign	11	119027055	119027055	Human	1	name
127308001	CV1141947	single nucleotide variant	NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)	Glucose-6-phosphate transport defect [RCV001480476]\|Inborn genetic diseases [RCV004671403]\|Phosphate transport defect [RCV002501657]	likely benign	11	119027686	119027686	Human	4	name
127334488	CV1141948	single nucleotide variant	NM_001164277.2(SLC37A4):c.447A>G (p.Gly149=)	Glucose-6-phosphate transport defect [RCV001490844]	likely benign	11	119027807	119027807	Human	1	name
127301687	CV1141949	single nucleotide variant	NM_001164277.2(SLC37A4):c.423G>T (p.Leu141=)	Glucose-6-phosphate transport defect [RCV001498914]	likely benign	11	119027831	119027831	Human	1	name
127317226	CV1141950	single nucleotide variant	NM_001164277.2(SLC37A4):c.405C>T (p.Gly135=)	Glucose-6-phosphate transport defect [RCV001483098]	likely benign	11	119027849	119027849	Human	1	name
127328140	CV1141951	single nucleotide variant	NM_001164277.2(SLC37A4):c.369G>A (p.Lys123=)	Glucose-6-phosphate transport defect [RCV001506923]	likely benign	11	119028206	119028206	Human	1	name
127320364	CV1141952	single nucleotide variant	NM_001164277.2(SLC37A4):c.312T>C (p.Ala104=)	Glucose-6-phosphate transport defect [RCV001504366]	likely benign	11	119028263	119028263	Human	1	name
127338178	CV1141953	single nucleotide variant	NM_001164277.2(SLC37A4):c.303T>C (p.Pro101=)	Glucose-6-phosphate transport defect [RCV001493651]	likely benign	11	119028272	119028272	Human	1	name
151819571	CV1386870	single nucleotide variant	NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=)	Glucose-6-phosphate transport defect [RCV001954625]	uncertain significance	11	119028194	119028194	Human	1	name
151859446	CV1423037	single nucleotide variant	NM_001164277.2(SLC37A4):c.513A>G (p.Leu171=)	Glucose-6-phosphate transport defect [RCV001923814]\|Inborn genetic diseases [RCV004970538]	likely benign	11	119027741	119027741	Human	2	name
151725445	CV1433256	single nucleotide variant	NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys)	Glucose-6-phosphate transport defect [RCV001983623]	uncertain significance	11	119029312	119029312	Human	1	name
151775901	CV1478845	single nucleotide variant	NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro)	Glucose-6-phosphate transport defect [RCV002045690]	uncertain significance	11	119029339	119029339	Human	1	name
152061489	CV1540790	single nucleotide variant	NM_001164277.2(SLC37A4):c.597G>A (p.Leu199=)	Glucose-6-phosphate transport defect [RCV002110168]	likely benign	11	119027656	119027656	Human	1	name
152033752	CV1542769	single nucleotide variant	NM_001164277.2(SLC37A4):c.861C>T (p.Ala287=)	Glucose-6-phosphate transport defect [RCV002106629]	likely benign	11	119026612	119026612	Human	1	name
152081349	CV1548248	single nucleotide variant	NM_001164277.2(SLC37A4):c.786T>A (p.Gly262=)	Glucose-6-phosphate transport defect [RCV002076410]	likely benign	11	119026687	119026687	Human	1	name
152127034	CV1572027	single nucleotide variant	NM_001164277.2(SLC37A4):c.417C>T (p.Ala139=)	Glucose-6-phosphate transport defect [RCV002217554]	likely benign	11	119027837	119027837	Human	1	name
152113927	CV1581975	single nucleotide variant	NM_001164277.2(SLC37A4):c.690C>T (p.Ser230=)	Glucose-6-phosphate transport defect [RCV002097215]	likely benign	11	119027031	119027031	Human	1	name
152044262	CV1584225	single nucleotide variant	NM_001164277.2(SLC37A4):c.372C>T (p.Val124=)	Glucose-6-phosphate transport defect [RCV002071407]	likely benign	11	119028203	119028203	Human	1	name
152082410	CV1589572	single nucleotide variant	NM_001164277.2(SLC37A4):c.795C>T (p.Tyr265=)	Glucose-6-phosphate transport defect [RCV002112931]	likely benign	11	119026678	119026678	Human	1	name
152052796	CV1607293	single nucleotide variant	NM_001164277.2(SLC37A4):c.591C>T (p.Arg197=)	Glucose-6-phosphate transport defect [RCV002109187]	likely benign	11	119027662	119027662	Human	1	name
152097756	CV1611590	single nucleotide variant	NM_001164277.2(SLC37A4):c.846C>T (p.Tyr282=)	Glucose-6-phosphate transport defect [RCV002172693]	likely benign	11	119026627	119026627	Human	1	name
152034130	CV1626245	single nucleotide variant	NM_001164277.2(SLC37A4):c.595C>T (p.Leu199=)	Glucose-6-phosphate transport defect [RCV002187209]	likely benign	11	119027658	119027658	Human	1	name
152156570	CV1626991	single nucleotide variant	NM_001164277.2(SLC37A4):c.429C>T (p.Thr143=)	Glucose-6-phosphate transport defect [RCV002103042]	likely benign	11	119027825	119027825	Human	1	name
152098822	CV1627144	single nucleotide variant	NM_001164277.2(SLC37A4):c.939G>C (p.Val313=)	Glucose-6-phosphate transport defect [RCV002095235]	likely benign	11	119026012	119026012	Human	1	name
152151507	CV1631434	single nucleotide variant	NM_001164277.2(SLC37A4):c.462C>A (p.Ile154=)	Glucose-6-phosphate transport defect [RCV002179520]	likely benign	11	119027792	119027792	Human	1	name
152058763	CV1644642	single nucleotide variant	NM_001164277.2(SLC37A4):c.456C>T (p.Gly152=)	Glucose-6-phosphate transport defect [RCV002167753]	likely benign	11	119027798	119027798	Human	1	name
152116732	CV1645776	single nucleotide variant	NM_001164277.2(SLC37A4):c.463C>T (p.Leu155=)	Glucose-6-phosphate transport defect [RCV002175030]	likely benign	11	119027791	119027791	Human	1	name
152096070	CV1653375	single nucleotide variant	NM_001164277.2(SLC37A4):c.525G>C (p.Leu175=)	Glucose-6-phosphate transport defect [RCV002094854]	likely benign	11	119027729	119027729	Human	1	name
152068546	CV1654161	single nucleotide variant	NM_001164277.2(SLC37A4):c.423G>C (p.Leu141=)	Glucose-6-phosphate transport defect [RCV002111132]	likely benign	11	119027831	119027831	Human	1	name
152048310	CV1654164	single nucleotide variant	NM_001164277.2(SLC37A4):c.346C>T (p.Leu116=)	Glucose-6-phosphate transport defect [RCV002088817]	likely benign	11	119028229	119028229	Human	1	name
152099904	CV1664034	single nucleotide variant	NM_001164277.2(SLC37A4):c.900C>T (p.Arg300=)	Glucose-6-phosphate transport defect [RCV002078851]	likely benign	11	119026051	119026051	Human	1	name
156286603	CV1907446	single nucleotide variant	NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)	Glucose-6-phosphate transport defect [RCV003087309]	uncertain significance	11	119029281	119029281	Human	1	name
156017356	CV1918461	single nucleotide variant	NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)	Glucose-6-phosphate transport defect [RCV002636535]	uncertain significance	11	119025967	119025967	Human	1	name
156404210	CV1986198	single nucleotide variant	NM_001164277.2(SLC37A4):c.847C>T (p.Leu283=)	Glucose-6-phosphate transport defect [RCV002657996]	likely benign\|uncertain significance	11	119026626	119026626	Human	1	name
156352941	CV1994636	single nucleotide variant	NM_001164277.2(SLC37A4):c.948C>T (p.Tyr316=)	Glucose-6-phosphate transport defect [RCV002675721]	likely benign	11	119026003	119026003	Human	1	name
156077657	CV2098449	single nucleotide variant	NM_001164277.2(SLC37A4):c.627C>T (p.Gly209=)	Glucose-6-phosphate transport defect [RCV002912594]	likely benign	11	119027094	119027094	Human	1	name
156229249	CV2115521	single nucleotide variant	NM_001164277.2(SLC37A4):c.375G>A (p.Leu125=)	Glucose-6-phosphate transport defect [RCV002932762]	likely benign	11	119028200	119028200	Human	1	name
156299519	CV2146009	single nucleotide variant	NM_001164277.2(SLC37A4):c.507G>C (p.Leu169=)	Glucose-6-phosphate transport defect [RCV003010317]	likely benign	11	119027747	119027747	Human	1	name
156294419	CV2162505	single nucleotide variant	NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)	Glucose-6-phosphate transport defect [RCV003045273]	uncertain significance	11	119029283	119029283	Human	1	name
8559652	CV21972	single nucleotide variant	NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	Glucose-6-phosphate transport defect [RCV000007345]\|Phosphate transport defect [RCV002482839]\|not provided [RCV000059144]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	11	119029287	119029287	Human	3	name
401949162	CV2836532	duplication	NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)	Glucose-6-phosphate transport defect [RCV003472929]	pathogenic\|likely pathogenic	11	119028379	119028380	Human	1	name
404993709	CV2851044	single nucleotide variant	NM_001164277.2(SLC37A4):c.43T>C (p.Ser15Pro)	not provided [RCV003491500]	uncertain significance	11	119029327	119029327	Human		name
402490353	CV2860662	single nucleotide variant	NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)	Glucose-6-phosphate transport defect [RCV003507563]\|SLC37A4-related disorder [RCV003954228]	uncertain significance	11	119029332	119029332	Human	1	name , alternate_id
402497139	CV2875948	single nucleotide variant	NM_001164277.2(SLC37A4):c.553C>T (p.Leu185=)	Glucose-6-phosphate transport defect [RCV003508308]	likely benign	11	119027700	119027700	Human	1	name
402503187	CV2895956	single nucleotide variant	NM_001164277.2(SLC37A4):c.53T>C (p.Phe18Ser)	Glucose-6-phosphate transport defect [RCV003508963]	uncertain significance	11	119029317	119029317	Human	1	name
402486027	CV2912903	single nucleotide variant	NM_001164277.2(SLC37A4):c.420C>T (p.Ile140=)	Glucose-6-phosphate transport defect [RCV003506991]	likely benign	11	119027834	119027834	Human	1	name
402487749	CV2921412	single nucleotide variant	NM_001164277.2(SLC37A4):c.792C>T (p.Ser264=)	Glucose-6-phosphate transport defect [RCV003507178]	likely benign	11	119026681	119026681	Human	1	name
402488201	CV2921803	single nucleotide variant	NM_001164277.2(SLC37A4):c.334C>T (p.Leu112=)	Glucose-6-phosphate transport defect [RCV003507225]	likely benign	11	119028241	119028241	Human	1	name
402492686	CV2922463	single nucleotide variant	NM_001164277.2(SLC37A4):c.664C>T (p.Leu222=)	Glucose-6-phosphate transport defect [RCV003507809]	likely benign	11	119027057	119027057	Human	1	name
402493587	CV2929929	deletion	NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)	Glucose-6-phosphate transport defect [RCV003507911]	pathogenic	11	119028281	119028281	Human	1	name
402492805	CV2931969	single nucleotide variant	NM_001164277.2(SLC37A4):c.702T>G (p.Leu234=)	Glucose-6-phosphate transport defect [RCV003507823]	likely benign	11	119027019	119027019	Human	1	name
405129988	CV2945325	single nucleotide variant	NM_001164277.2(SLC37A4):c.834C>A (p.Ile278=)	Glucose-6-phosphate transport defect [RCV003618173]	likely benign	11	119026639	119026639	Human	1	name
405130548	CV2960537	single nucleotide variant	NM_001164277.2(SLC37A4):c.648C>T (p.Thr216=)	Glucose-6-phosphate transport defect [RCV003618233]	likely benign	11	119027073	119027073	Human	1	name
405131389	CV2964280	single nucleotide variant	NM_001164277.2(SLC37A4):c.519G>T (p.Gly173=)	Glucose-6-phosphate transport defect [RCV003618345]	likely benign	11	119027735	119027735	Human	1	name
405132175	CV2966855	single nucleotide variant	NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)	Glucose-6-phosphate transport defect [RCV003618312]	uncertain significance	11	119029287	119029287	Human	1	name
405133137	CV2977965	single nucleotide variant	NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)	Glucose-6-phosphate transport defect [RCV003618531]	uncertain significance	11	119029304	119029304	Human	1	name
405132834	CV2984060	single nucleotide variant	NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)	Glucose-6-phosphate transport defect [RCV003618475]	likely benign	11	119026072	119026072	Human	1	name
405133691	CV2989071	single nucleotide variant	NM_001164277.2(SLC37A4):c.504G>T (p.Thr168=)	Glucose-6-phosphate transport defect [RCV003618590]	likely benign	11	119027750	119027750	Human	1	name
405123372	CV2993870	single nucleotide variant	NM_001164277.2(SLC37A4):c.717A>C (p.Val239=)	Glucose-6-phosphate transport defect [RCV003617343]	likely benign	11	119027004	119027004	Human	1	name
405135412	CV2995478	single nucleotide variant	NM_001164277.2(SLC37A4):c.774A>C (p.Ser258=)	Glucose-6-phosphate transport defect [RCV003618740]	likely benign	11	119026947	119026947	Human	1	name
405125918	CV3027386	single nucleotide variant	NM_001164277.2(SLC37A4):c.852A>G (p.Ser284=)	Glucose-6-phosphate transport defect [RCV003617640]	likely benign	11	119026621	119026621	Human	1	name
405136335	CV3056034	deletion	NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)	Glucose-6-phosphate transport defect [RCV003618855]	pathogenic	11	119028296	119028296	Human	1	name
405137086	CV3068096	single nucleotide variant	NM_001164277.2(SLC37A4):c.421C>T (p.Leu141=)	Glucose-6-phosphate transport defect [RCV003618926]	likely benign	11	119027833	119027833	Human	1	name
405138239	CV3073252	single nucleotide variant	NM_001164277.2(SLC37A4):c.669C>T (p.Ser223=)	Glucose-6-phosphate transport defect [RCV003619038]	likely benign	11	119027052	119027052	Human	1	name
405025765	CV3133088	single nucleotide variant	NM_001164277.2(SLC37A4):c.531G>T (p.Val177=)	Glucose-6-phosphate transport defect [RCV003830235]	likely benign	11	119027722	119027722	Human	1	name
405227924	CV3142972	single nucleotide variant	NM_001164277.2(SLC37A4):c.330T>C (p.Asn110=)	Glucose-6-phosphate transport defect [RCV003848315]	likely benign	11	119028245	119028245	Human	1	name
405177153	CV3146915	single nucleotide variant	NM_001164277.2(SLC37A4):c.999A>G (p.Val333=)	Glucose-6-phosphate transport defect [RCV003842011]	likely benign	11	119025315	119025315	Human	1	name
405173326	CV3151799	single nucleotide variant	NM_001164277.2(SLC37A4):c.645C>T (p.Ser215=)	Glucose-6-phosphate transport defect [RCV003857950]	likely benign	11	119027076	119027076	Human	1	name
11624914	CV324617	single nucleotide variant	NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)	Glucose-6-phosphate transport defect [RCV000936549]\|Glycogen storage disease, type I [RCV000392366]\|Inborn genetic diseases [RCV004021499]\|Phosphate transport defect [RCV003224255]\|not provided [RCV004597775]\|not specified [RCV001280604]	likely benign\|uncertain significance	11	119027762	119027762	Human	5	name
11614597	CV325369	single nucleotide variant	NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)	Glucose-6-phosphate transport defect [RCV001410122]\|Glycogen storage disease, type I [RCV000278475]	likely benign\|uncertain significance	11	119027789	119027789	Human	2	name
407451618	CV3484537	single nucleotide variant	NM_001164277.2(SLC37A4):c.858G>A (p.Arg286=)	Inborn genetic diseases [RCV004683720]	likely benign	11	119026615	119026615	Human	1	name
596928755	CV3541645	single nucleotide variant	NM_001164277.2(SLC37A4):c.55G>C (p.Gly19Arg)	Phosphate transport defect [RCV004797518]	uncertain significance	11	119029315	119029315	Human	2	name
597626971	CV3599860	single nucleotide variant	NM_001164277.2(SLC37A4):c.56G>C (p.Gly19Ala)	Inborn genetic diseases [RCV004966296]	uncertain significance	11	119029314	119029314	Human	1	name
12840692	CV372010	single nucleotide variant	NM_001164277.2(SLC37A4):c.540C>T (p.Ser180=)	Glucose-6-phosphate transport defect [RCV000901042]\|Inborn genetic diseases [RCV002348217]\|not specified [RCV000431200]	likely benign	11	119027713	119027713	Human	2	name
597943845	CV3765914	single nucleotide variant	NM_001164277.2(SLC37A4):c.819C>T (p.Gly273=)	Glucose-6-phosphate transport defect [RCV005119292]	likely benign	11	119026654	119026654	Human	1	name
597872172	CV3768476	single nucleotide variant	NM_001164277.2(SLC37A4):c.552C>T (p.Leu184=)	Glucose-6-phosphate transport defect [RCV005122855]	likely benign	11	119027701	119027701	Human	1	name
597921068	CV3781350	single nucleotide variant	NM_001164277.2(SLC37A4):c.639G>A (p.Glu213=)	Glucose-6-phosphate transport defect [RCV005130232]	likely benign	11	119027082	119027082	Human	1	name
597955025	CV3796130	single nucleotide variant	NM_001164277.2(SLC37A4):c.450G>A (p.Gly150=)	Glucose-6-phosphate transport defect [RCV005136947]	likely benign	11	119027804	119027804	Human	1	name
597947126	CV3817839	single nucleotide variant	NM_001164277.2(SLC37A4):c.373C>T (p.Leu125=)	Glucose-6-phosphate transport defect [RCV005160306]	likely benign	11	119028202	119028202	Human	1	name
597885515	CV3835028	single nucleotide variant	NM_001164277.2(SLC37A4):c.894C>T (p.Asn298=)	Glucose-6-phosphate transport defect [RCV005178752]	likely benign	11	119026057	119026057	Human	1	name
597888091	CV3839172	single nucleotide variant	NM_001164277.2(SLC37A4):c.68T>G (p.Leu23Arg)	Glucose-6-phosphate transport defect [RCV005179258]	uncertain significance	11	119029302	119029302	Human	1	name
597889221	CV3856035	single nucleotide variant	NM_001164277.2(SLC37A4):c.29G>T (p.Arg10Leu)	Glucose-6-phosphate transport defect [RCV005200280]	uncertain significance	11	119029341	119029341	Human	1	name
12895291	CV408288	deletion	NM_001164277.2(SLC37A4):c.146del (p.Leu49fs)	not provided [RCV000485927]	likely pathogenic	11	119029224	119029224	Human		name
13503522	CV460910	single nucleotide variant	NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)	Glucose-6-phosphate transport defect [RCV000548549]\|not provided [RCV003139758]	benign\|uncertain significance	11	119029290	119029290	Human	1	name
13786940	CV545532	single nucleotide variant	NM_001164277.2(SLC37A4):c.957G>A (p.Arg319=)	Glucose-6-phosphate transport defect [RCV000673188]	likely benign	11	119025994	119025994	Human	1	name
13786090	CV545533	single nucleotide variant	NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=)	Glucose-6-phosphate transport defect [RCV000672566]	likely benign	11	119026009	119026009	Human	1	name
13789921	CV545572	single nucleotide variant	NM_001164277.2(SLC37A4):c.747C>T (p.Phe249=)	Glucose-6-phosphate transport defect [RCV000666248]	likely benign	11	119026974	119026974	Human	1	name
13787474	CV545589	single nucleotide variant	NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=)	Glucose-6-phosphate transport defect [RCV000673474]	likely benign	11	119027031	119027031	Human	1	name
13789064	CV545668	single nucleotide variant	NM_001164277.2(SLC37A4):c.552C>A (p.Leu184=)	Glucose-6-phosphate transport defect [RCV000674308]	likely benign	11	119027701	119027701	Human	1	name
13790193	CV545691	single nucleotide variant	NM_001164277.2(SLC37A4):c.459T>A (p.Pro153=)	Glucose-6-phosphate transport defect [RCV000666409]	likely benign	11	119027795	119027795	Human	1	name
13786901	CV545736	single nucleotide variant	NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=)	Glucose-6-phosphate transport defect [RCV000664527]	likely benign	11	119028230	119028230	Human	1	name
13787849	CV545788	single nucleotide variant	NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu)	Glucose-6-phosphate transport defect [RCV000665062]	uncertain significance	11	119029271	119029271	Human	1	name
13788380	CV545791	single nucleotide variant	NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr)	Glucose-6-phosphate transport defect [RCV000673933]	uncertain significance	11	119029324	119029324	Human	1	name
13787073	CV545798	single nucleotide variant	NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu)	Glucose-6-phosphate transport defect [RCV000673263]	uncertain significance	11	119029326	119029326	Human	1	name
13789750	CV545851	single nucleotide variant	NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=)	Glucose-6-phosphate transport defect [RCV000674667]	likely benign	11	119025321	119025321	Human	1	name
13783630	CV545911	single nucleotide variant	NM_001164277.2(SLC37A4):c.957G>C (p.Arg319=)	Glucose-6-phosphate transport defect [RCV000670202]	likely benign	11	119025994	119025994	Human	1	name
13782712	CV545918	single nucleotide variant	NM_001164277.2(SLC37A4):c.913C>T (p.Leu305=)	Glucose-6-phosphate transport defect [RCV000669211]	likely benign	11	119026038	119026038	Human	1	name
13784816	CV545925	single nucleotide variant	NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=)	Glucose-6-phosphate transport defect [RCV000671296]	likely benign	11	119026060	119026060	Human	1	name
13783670	CV545959	single nucleotide variant	NM_001164277.2(SLC37A4):c.867A>C (p.Ala289=)	Glucose-6-phosphate transport defect [RCV000670230]	likely benign	11	119026606	119026606	Human	1	name
13784333	CV545965	single nucleotide variant	NM_001164277.2(SLC37A4):c.849G>A (p.Leu283=)	Glucose-6-phosphate transport defect [RCV000670764]	likely benign	11	119026624	119026624	Human	1	name
13786057	CV545979	single nucleotide variant	NM_001164277.2(SLC37A4):c.684G>A (p.Val228=)	Glucose-6-phosphate transport defect [RCV000672525]	likely benign	11	119027037	119027037	Human	1	name
13790624	CV545985	single nucleotide variant	NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=)	Glucose-6-phosphate transport defect [RCV000666691]	likely benign	11	119026998	119026998	Human	1	name
13785883	CV545990	single nucleotide variant	NM_001164277.2(SLC37A4):c.708G>A (p.Val236=)	Glucose-6-phosphate transport defect [RCV000672337]	likely benign	11	119027013	119027013	Human	1	name
13783053	CV545993	single nucleotide variant	NM_001164277.2(SLC37A4):c.649C>T (p.Leu217=)	Glucose-6-phosphate transport defect [RCV000669633]	likely benign	11	119027072	119027072	Human	1	name
13786181	CV545999	single nucleotide variant	NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=)	Glucose-6-phosphate transport defect [RCV000672640]	likely benign	11	119027665	119027665	Human	1	name
13785450	CV546002	single nucleotide variant	NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=)	Glucose-6-phosphate transport defect [RCV000672024]\|Inborn genetic diseases [RCV004669073]	likely benign	11	119027677	119027677	Human	2	name
13789771	CV546008	single nucleotide variant	NM_001164277.2(SLC37A4):c.561C>A (p.Ile187=)	Glucose-6-phosphate transport defect [RCV000666167]	likely benign	11	119027692	119027692	Human	1	name
13791960	CV546015	single nucleotide variant	NM_001164277.2(SLC37A4):c.555G>C (p.Leu185=)	Glucose-6-phosphate transport defect [RCV000668114]	likely benign	11	119027698	119027698	Human	1	name
13784502	CV546026	single nucleotide variant	NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=)	Glucose-6-phosphate transport defect [RCV000670914]	likely benign	11	119028209	119028209	Human	1	name
13789446	CV546027	single nucleotide variant	NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=)	Glucose-6-phosphate transport defect [RCV000666002]	likely benign	11	119028224	119028224	Human	1	name
13788759	CV546028	single nucleotide variant	NM_001164277.2(SLC37A4):c.348G>A (p.Leu116=)	Glucose-6-phosphate transport defect [RCV000674137]	likely benign	11	119028227	119028227	Human	1	name
13788515	CV546043	duplication	NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs)	Glucose-6-phosphate transport defect [RCV000674005]	likely pathogenic	11	119028298	119028299	Human	1	name
13784514	CV546076	single nucleotide variant	NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr)	Glucose-6-phosphate transport defect [RCV000670930]	uncertain significance	11	119029278	119029278	Human	1	name
13790968	CV546082	single nucleotide variant	NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala)	Glucose-6-phosphate transport defect [RCV000666917]	uncertain significance	11	119029311	119029311	Human	1	name
13785190	CV546103	single nucleotide variant	NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu)	Glucose-6-phosphate transport defect [RCV000671757]	uncertain significance	11	119029277	119029277	Human	1	name
13789374	CV546105	single nucleotide variant	NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys)	Glucose-6-phosphate transport defect [RCV000665965]	uncertain significance	11	119029299	119029299	Human	1	name
13791702	CV546227	single nucleotide variant	NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=)	Glucose-6-phosphate transport defect [RCV000667790]	likely benign	11	119026042	119026042	Human	1	name
13786433	CV546229	single nucleotide variant	NM_001164277.2(SLC37A4):c.907C>T (p.Leu303=)	Glucose-6-phosphate transport defect [RCV000672817]	likely benign	11	119026044	119026044	Human	1	name
13788527	CV546231	single nucleotide variant	NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=)	Glucose-6-phosphate transport defect [RCV000665429]\|Inborn genetic diseases [RCV002442391]	likely benign	11	119026045	119026045	Human	2	name
13788489	CV546236	single nucleotide variant	NM_001164277.2(SLC37A4):c.879G>C (p.Leu293=)	Glucose-6-phosphate transport defect [RCV000673990]	likely benign	11	119026072	119026072	Human	1	name
13791583	CV546264	single nucleotide variant	NM_001164277.2(SLC37A4):c.780T>C (p.Leu260=)	Glucose-6-phosphate transport defect [RCV000667631]	likely benign	11	119026941	119026941	Human	1	name
13792184	CV546281	single nucleotide variant	NM_001164277.2(SLC37A4):c.630C>T (p.Ser210=)	Glucose-6-phosphate transport defect [RCV000668389]	likely benign	11	119027091	119027091	Human	1	name
13790057	CV546304	single nucleotide variant	NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=)	Glucose-6-phosphate transport defect [RCV000666326]	likely benign	11	119027695	119027695	Human	1	name
13785912	CV546308	single nucleotide variant	NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=)	Glucose-6-phosphate transport defect [RCV000672366]	likely benign	11	119027732	119027732	Human	1	name
13786015	CV546323	single nucleotide variant	NM_001164277.2(SLC37A4):c.471C>T (p.Thr157=)	Glucose-6-phosphate transport defect [RCV000672476]	likely benign	11	119027783	119027783	Human	1	name
13791562	CV546325	single nucleotide variant	NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=)	Glucose-6-phosphate transport defect [RCV000667608]\|SLC37A4-related disorder [RCV003918106]	likely benign	11	119027786	119027786	Human	1	name , alternate_id
13787418	CV546346	single nucleotide variant	NM_001164277.2(SLC37A4):c.360A>G (p.Pro120=)	Glucose-6-phosphate transport defect [RCV000664829]	likely benign	11	119028215	119028215	Human	1	name
13791742	CV546351	single nucleotide variant	NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=)	Glucose-6-phosphate transport defect [RCV000667842]	likely benign	11	119028218	119028218	Human	1	name
13791320	CV546393	single nucleotide variant	NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn)	Glucose-6-phosphate transport defect [RCV000667326]	uncertain significance	11	119029281	119029281	Human	1	name
13813532	CV564454	single nucleotide variant	NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu)	Glucose-6-phosphate transport defect [RCV000704424]	uncertain significance	11	119029294	119029294	Human	1	name
13833095	CV584323	single nucleotide variant	NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=)	Glucose-6-phosphate transport defect [RCV001080222]\|not provided [RCV000728251]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026021	119026021	Human	1	name
15157990	CV724234	single nucleotide variant	NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)	Glucose-6-phosphate transport defect [RCV000880923]\|Inborn genetic diseases [RCV002372505]\|Phosphate transport defect [RCV002501382]\|SLC37A4-related disorder [RCV003955818]	likely benign	11	119025979	119025979	Human	4	name , alternate_id
15177972	CV724235	single nucleotide variant	NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)	Glucose-6-phosphate transport defect [RCV000884951]\|Inborn genetic diseases [RCV004028346]\|Phosphate transport defect [RCV002479008]\|SLC37A4-related disorder [RCV003955890]	likely benign	11	119027058	119027058	Human	4	name , alternate_id
15173680	CV768241	single nucleotide variant	NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)	Glucose-6-phosphate transport defect [RCV000928345]\|Phosphate transport defect [RCV002502833]	likely benign	11	119026063	119026063	Human	3	name
15175209	CV768242	single nucleotide variant	NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=)	Glucose-6-phosphate transport defect [RCV000928621]\|SLC37A4-related disorder [RCV003933155]	likely benign	11	119026078	119026078	Human	1	name , alternate_id
15171922	CV768243	single nucleotide variant	NM_001164277.2(SLC37A4):c.831C>T (p.Ser277=)	Glucose-6-phosphate transport defect [RCV000928005]	likely benign	11	119026642	119026642	Human	1	name
15149349	CV768244	single nucleotide variant	NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)	Glucose-6-phosphate transport defect [RCV000945290]\|Phosphate transport defect [RCV002489278]	likely benign	11	119026998	119026998	Human	3	name
15127227	CV768246	single nucleotide variant	NM_001164277.2(SLC37A4):c.489C>T (p.Tyr163=)	Glucose-6-phosphate transport defect [RCV001501881]\|Inborn genetic diseases [RCV004669175]	likely benign	11	119027765	119027765	Human	2	name
15137847	CV783888	single nucleotide variant	NM_001164277.2(SLC37A4):c.603C>T (p.Pro201=)	Glucose-6-phosphate transport defect [RCV000982372]\|not provided [RCV003424517]	likely benign	11	119027650	119027650	Human	1	name
15109643	CV783889	single nucleotide variant	NM_001164277.2(SLC37A4):c.498C>T (p.Arg166=)	not provided [RCV000977278]	likely benign	11	119027756	119027756	Human		name
8624089	CV79177	single nucleotide variant	NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)	Glucose-6-phosphate transport defect [RCV000699431]\|Phosphate transport defect [RCV002504976]\|not provided [RCV000059137]	pathogenic\|likely pathogenic\|not provided	11	119029311	119029311	Human	3	name
8624091	CV79179	single nucleotide variant	NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)	Glucose-6-phosphate transport defect [RCV000169003]\|not provided [RCV000059139]	likely pathogenic\|not provided	11	119029300	119029300	Human	1	name
8624093	CV79181	single nucleotide variant	NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	Glucose-6-phosphate transport defect [RCV000675174]\|Glycogen storage disease, type I [RCV000357831]\|Hepatomegaly [RCV000414827]\|not provided [RCV000059141]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	11	119029289	119029289	Human	9	name
8624094	CV79182	single nucleotide variant	NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)	Glucose-6-phosphate transport defect [RCV000634548]\|Phosphate transport defect [RCV002477207]\|not provided [RCV000059142]	pathogenic\|not provided	11	119029288	119029288	Human	3	name
26890818	CV838052	single nucleotide variant	NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His)	Glucose-6-phosphate transport defect [RCV001059753]\|Phosphate transport defect [RCV005049751]	uncertain significance	11	119029309	119029309	Human	3	name
28897412	CV867114	single nucleotide variant	NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=)	Glucose-6-phosphate transport defect [RCV001441012]\|Glycogen storage disease, type I [RCV001102584]	likely benign\|uncertain significance	11	119028236	119028236	Human	2	name
38495242	CV956406	single nucleotide variant	NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)	Glucose-6-phosphate transport defect [RCV001241820]	likely benign\|uncertain significance	11	119026060	119026060	Human	1	name
38456759	CV956415	single nucleotide variant	NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)	Glucose-6-phosphate transport defect [RCV001245875]\|Inborn genetic diseases [RCV002436966]\|Phosphate transport defect [RCV002480837]	uncertain significance	11	119029341	119029341	Human	4	name
126755295	CV1009540	single nucleotide variant	NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val)	Glucose-6-phosphate transport defect [RCV001316908]	uncertain significance	11	119028426	119028426	Human	1	name
126918927	CV1047069	single nucleotide variant	NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)	Glucose-6-phosphate transport defect [RCV001372944]\|Phosphate transport defect [RCV002488180]	uncertain significance	11	119028345	119028345	Human	3	name
127251606	CV1055988	single nucleotide variant	NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)	Glucose-6-phosphate transport defect [RCV001378593]	pathogenic\|likely pathogenic	11	119028327	119028327	Human	1	name
127272368	CV1062249	deletion	NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)	Glucose-6-phosphate transport defect [RCV001390446]	pathogenic	11	119026026	119026026	Human	1	name
127277294	CV1077906	single nucleotide variant	NM_001164277.2(SLC37A4):c.1242A>G (p.Leu414=)	Glucose-6-phosphate transport defect [RCV001407673]	likely benign	11	119024958	119024958	Human	1	name
127280742	CV1077907	single nucleotide variant	NM_001164277.2(SLC37A4):c.1209T>C (p.Ile403=)	Glucose-6-phosphate transport defect [RCV001410006]	likely benign	11	119024991	119024991	Human	1	name
127256977	CV1077908	single nucleotide variant	NM_001164277.2(SLC37A4):c.1206G>T (p.Val402=)	Glucose-6-phosphate transport defect [RCV001401348]	likely benign	11	119024994	119024994	Human	1	name
127244522	CV1077909	single nucleotide variant	NM_001164277.2(SLC37A4):c.1149C>G (p.Pro383=)	Glucose-6-phosphate transport defect [RCV001398573]	likely benign	11	119025051	119025051	Human	1	name
127266480	CV1077910	single nucleotide variant	NM_001164277.2(SLC37A4):c.1135C>T (p.Leu379=)	Glucose-6-phosphate transport defect [RCV001403881]	likely benign	11	119025065	119025065	Human	1	name
127244187	CV1077911	single nucleotide variant	NM_001164277.2(SLC37A4):c.1008T>G (p.Ala336=)	Glucose-6-phosphate transport defect [RCV001398529]\|not provided [RCV004584897]	likely benign	11	119025306	119025306	Human	1	name
127267096	CV1099551	single nucleotide variant	NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)	Glucose-6-phosphate transport defect [RCV001440458]\|Phosphate transport defect [RCV002495615]	likely benign	11	119024985	119024985	Human	3	name
127269238	CV1099552	single nucleotide variant	NM_001164277.2(SLC37A4):c.1197G>C (p.Val399=)	Glucose-6-phosphate transport defect [RCV001430227]	likely benign	11	119025003	119025003	Human	1	name
127275552	CV1099553	single nucleotide variant	NM_001164277.2(SLC37A4):c.1158C>T (p.Thr386=)	Glucose-6-phosphate transport defect [RCV001432425]	likely benign	11	119025042	119025042	Human	1	name
127276973	CV1099554	single nucleotide variant	NM_001164277.2(SLC37A4):c.1047T>C (p.Phe349=)	Glucose-6-phosphate transport defect [RCV001444130]	likely benign	11	119025267	119025267	Human	1	name
127294765	CV1121101	single nucleotide variant	NM_001164277.2(SLC37A4):c.1248C>T (p.Asn416=)	Glucose-6-phosphate transport defect [RCV001452312]	likely benign	11	119024952	119024952	Human	1	name
127312492	CV1121102	single nucleotide variant	NM_001164277.2(SLC37A4):c.1167G>A (p.Lys389=)	Glucose-6-phosphate transport defect [RCV001457153]	likely benign	11	119025033	119025033	Human	1	name
127291851	CV1121104	single nucleotide variant	NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=)	Glucose-6-phosphate transport defect [RCV001458845]	likely benign	11	119025222	119025222	Human	1	name
127302526	CV1121105	single nucleotide variant	NM_001164277.2(SLC37A4):c.1089C>T (p.Gly363=)	Glucose-6-phosphate transport defect [RCV001454463]	likely benign	11	119025225	119025225	Human	1	name
151859783	CV1337410	single nucleotide variant	NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro)	Glucose-6-phosphate transport defect [RCV001923852]	uncertain significance	11	119028349	119028349	Human	1	name
151871973	CV1366621	duplication	NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs)	Glucose-6-phosphate transport defect [RCV001960556]	pathogenic	11	119028239	119028240	Human	1	name
151816659	CV1388416	deletion	NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)	Glucose-6-phosphate transport defect [RCV001992358]	pathogenic\|likely pathogenic	11	119025970	119025970	Human	1	name
151709338	CV1409201	single nucleotide variant	NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser)	Glucose-6-phosphate transport defect [RCV001907655]	uncertain significance	11	119028346	119028346	Human	1	name
151892099	CV1422714	single nucleotide variant	NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu)	Glucose-6-phosphate transport defect [RCV001943758]	uncertain significance	11	119029263	119029263	Human	1	name
151883994	CV1428479	duplication	NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)	Glucose-6-phosphate transport defect [RCV002000174]	pathogenic\|likely pathogenic	11	119027855	119027856	Human	1	name
8692928	CV142894	single nucleotide variant	NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)	Glucose-6-phosphate transport defect [RCV001083502]\|Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001274000]\|Phosphate transport defect [RCV001533712]\|not provided [RCV000588945]\|not specified [RCV000128141]	benign	11	119025252	119025252	Human	4	name
8692929	CV142895	single nucleotide variant	NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)	Glucose-6-phosphate transport defect [RCV001273999]\|Phosphate transport defect [RCV001533659]\|not provided [RCV001824627]\|not specified [RCV000128142]	benign\|not provided	11	119024976	119024976	Human	2	name
8692930	CV142896	single nucleotide variant	NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)	Glucose-6-phosphate transport defect [RCV001081181]\|Phosphate transport defect [RCV001533658]\|not provided [RCV000224695]\|not specified [RCV000128143]	benign\|likely benign	11	119024925	119024925	Human	2	name
8692931	CV142897	single nucleotide variant	NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=)	Glucose-6-phosphate transport defect [RCV000560550]\|not provided [RCV004708055]\|not specified [RCV000128144]	benign	11	119024922	119024922	Human	1	name
151825055	CV1429466	duplication	NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)	Glucose-6-phosphate transport defect [RCV001993152]	pathogenic\|likely pathogenic	11	119025974	119025975	Human	1	name
151756273	CV1490692	single nucleotide variant	NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg)	Glucose-6-phosphate transport defect [RCV001948644]	uncertain significance	11	119028386	119028386	Human	1	name
152151088	CV1567622	single nucleotide variant	NM_001164277.2(SLC37A4):c.1095C>T (p.Ser365=)	Glucose-6-phosphate transport defect [RCV002158203]	likely benign	11	119025219	119025219	Human	1	name
152172965	CV1572550	single nucleotide variant	NM_001164277.2(SLC37A4):c.1221C>T (p.Ser407=)	Glucose-6-phosphate transport defect [RCV002162638]	likely benign	11	119024979	119024979	Human	1	name
152133702	CV1590243	single nucleotide variant	NM_001164277.2(SLC37A4):c.1152C>T (p.Phe384=)	Glucose-6-phosphate transport defect [RCV002218422]	likely benign	11	119025048	119025048	Human	1	name
152059870	CV1596199	single nucleotide variant	NM_001164277.2(SLC37A4):c.1158C>A (p.Thr386=)	Glucose-6-phosphate transport defect [RCV002090123]	likely benign	11	119025042	119025042	Human	1	name
152131887	CV1663732	single nucleotide variant	NM_001164277.2(SLC37A4):c.1011A>G (p.Val337=)	Glucose-6-phosphate transport defect [RCV002155650]	likely benign	11	119025303	119025303	Human	1	name
156410911	CV1882852	single nucleotide variant	NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)	Glucose-6-phosphate transport defect [RCV003072261]	uncertain significance	11	119028346	119028346	Human	1	name
156036620	CV1918279	single nucleotide variant	NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)	Glucose-6-phosphate transport defect [RCV002620078]	likely benign\|uncertain significance	11	119025030	119025030	Human	1	name
156115554	CV2020711	single nucleotide variant	NM_001164277.2(SLC37A4):c.1206G>A (p.Val402=)	Glucose-6-phosphate transport defect [RCV002739996]	likely benign	11	119024994	119024994	Human	1	name
156015841	CV2046655	single nucleotide variant	NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)	Glucose-6-phosphate transport defect [RCV002756930]\|Inborn genetic diseases [RCV003308275]	uncertain significance	11	119029233	119029233	Human	2	name
156253741	CV2060545	single nucleotide variant	NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)	Glucose-6-phosphate transport defect [RCV002791783]	uncertain significance	11	119028343	119028343	Human	1	name
155987458	CV2070474	single nucleotide variant	NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)	Glucose-6-phosphate transport defect [RCV002842808]	likely benign\|uncertain significance	11	119025276	119025276	Human	1	name
156235234	CV2094019	single nucleotide variant	NM_001164277.2(SLC37A4):c.1026G>C (p.Ser342=)	Glucose-6-phosphate transport defect [RCV002894709]	likely benign	11	119025288	119025288	Human	1	name
155903260	CV2127094	deletion	NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)	Glucose-6-phosphate transport defect [RCV002967550]	pathogenic	11	119027660	119027660	Human	1	name
155990219	CV2133663	single nucleotide variant	NM_001164277.2(SLC37A4):c.1289G>A (p.Ter430=)	Glucose-6-phosphate transport defect [RCV002996531]	likely benign	11	119024911	119024911	Human	1	name
156006593	CV2162996	deletion	NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)	Glucose-6-phosphate transport defect [RCV003017524]	pathogenic	11	119027035	119027035	Human	1	name
156131668	CV2169188	duplication	NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)	Glucose-6-phosphate transport defect [RCV003022200]	pathogenic	11	119026969	119026970	Human	1	name
8559647	CV21967	single nucleotide variant	NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	Glucose-6-phosphate transport defect [RCV000169480]\|Phosphate transport defect [RCV000007339]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	11	119028288	119028288	Human	2	name
11636978	CV272281	single nucleotide variant	NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)	Glucose-6-phosphate transport defect [RCV001087385]\|Inborn genetic diseases [RCV003165758]\|SLC37A4-related disorder [RCV004752830]\|not provided [RCV000278035]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119024960	119024960	Human	2	name , alternate_id
401891029	CV2778606	single nucleotide variant	NM_001164277.2(SLC37A4):c.1119C>G (p.Ala373=)	Inborn genetic diseases [RCV003354725]	likely benign	11	119025195	119025195	Human	1	name
401949171	CV2836541	duplication	NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)	Glucose-6-phosphate transport defect [RCV003472938]	likely pathogenic	11	119026068	119026069	Human	1	name
401949173	CV2836543	duplication	NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)	Glucose-6-phosphate transport defect [RCV003472940]	likely pathogenic	11	119027049	119027050	Human	1	name
401949178	CV2836548	single nucleotide variant	NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)	Glucose-6-phosphate transport defect [RCV003472945]	likely pathogenic	11	119029222	119029222	Human	1	name
401949156	CV2838664	deletion	NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)	Glucose-6-phosphate transport defect [RCV003472923]	likely pathogenic	11	119027084	119027084	Human	1	name
402495241	CV2870590	deletion	NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)	Glucose-6-phosphate transport defect [RCV003508107]	pathogenic	11	119027008	119027008	Human	1	name
402493114	CV2932404	single nucleotide variant	NM_001164277.2(SLC37A4):c.1134T>C (p.Phe378=)	Glucose-6-phosphate transport defect [RCV003507856]	likely benign	11	119025066	119025066	Human	1	name
402493505	CV2932980	single nucleotide variant	NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)	Glucose-6-phosphate transport defect [RCV003507901]	uncertain significance	11	119028346	119028346	Human	1	name
405130107	CV2949083	single nucleotide variant	NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)	Glucose-6-phosphate transport defect [RCV003618186]	pathogenic	11	119028342	119028342	Human	1	name
405133935	CV2984688	deletion	NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)	Glucose-6-phosphate transport defect [RCV003618505]	pathogenic	11	119027833	119027833	Human	1	name
405124355	CV3006179	single nucleotide variant	NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)	Glucose-6-phosphate transport defect [RCV003617461]	pathogenic	11	119028395	119028395	Human	1	name
405126174	CV3035693	single nucleotide variant	NM_001164277.2(SLC37A4):c.1083G>A (p.Leu361=)	Glucose-6-phosphate transport defect [RCV003617694]	likely benign	11	119025231	119025231	Human	1	name
405126245	CV3040605	single nucleotide variant	NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)	Glucose-6-phosphate transport defect [RCV003617677]\|Inborn genetic diseases [RCV004963766]	uncertain significance	11	119028384	119028384	Human	2	name
405126655	CV3046452	single nucleotide variant	NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)	Glucose-6-phosphate transport defect [RCV003617750]	uncertain significance	11	119029239	119029239	Human	1	name
405136693	CV3056974	single nucleotide variant	NM_001164277.2(SLC37A4):c.1176T>C (p.Ser392=)	Glucose-6-phosphate transport defect [RCV003618889]	likely benign	11	119025024	119025024	Human	1	name
405137194	CV3061389	single nucleotide variant	NM_001164277.2(SLC37A4):c.1287G>A (p.Glu429=)	Glucose-6-phosphate transport defect [RCV003618935]	likely benign	11	119024913	119024913	Human	1	name
11656813	CV312555	single nucleotide variant	NM_001164277.2(SLC37A4):c.1119C>T (p.Ala373=)	Glycogen storage disease, type I [RCV000336643]	uncertain significance	11	119025195	119025195	Human	1	name
405142914	CV3141303	single nucleotide variant	NM_001164277.2(SLC37A4):c.1104T>C (p.Ile368=)	Glucose-6-phosphate transport defect [RCV003839419]	likely benign	11	119025210	119025210	Human	1	name
405252799	CV3178106	single nucleotide variant	NM_001164277.2(SLC37A4):c.1257C>T (p.Thr419=)	Glucose-6-phosphate transport defect [RCV003870886]	likely benign	11	119024943	119024943	Human	1	name
405869777	CV3399499	duplication	NM_001164277.2(SLC37A4):c.721dup (p.Thr241fs)	Glucose-6-phosphate transport defect [RCV004573644]	likely pathogenic	11	119026999	119027000	Human	1	name
405869779	CV3399501	deletion	NM_001164277.2(SLC37A4):c.529del (p.Val177fs)	Glucose-6-phosphate transport defect [RCV004573646]	likely pathogenic	11	119027724	119027724	Human	1	name
596947398	CV3548951	single nucleotide variant	NM_001164277.2(SLC37A4):c.209T>C (p.Leu70Pro)	not provided [RCV004811275]	uncertain significance	11	119028366	119028366	Human		name
597921598	CV3738403	single nucleotide variant	NM_001164277.2(SLC37A4):c.139G>A (p.Asp47Asn)	Glucose-6-phosphate transport defect [RCV005074810]	uncertain significance	11	119029231	119029231	Human	1	name
597830531	CV3743068	single nucleotide variant	NM_001164277.2(SLC37A4):c.220A>G (p.Met74Val)	Glucose-6-phosphate transport defect [RCV005062076]	uncertain significance	11	119028355	119028355	Human	1	name
597876216	CV3766581	single nucleotide variant	NM_001164277.2(SLC37A4):c.1236C>T (p.Phe412=)	Glucose-6-phosphate transport defect [RCV005108521]	likely benign	11	119024964	119024964	Human	1	name
597939603	CV3775353	single nucleotide variant	NM_001164277.2(SLC37A4):c.1284T>C (p.Ala428=)	Glucose-6-phosphate transport defect [RCV005118179]	likely benign	11	119024916	119024916	Human	1	name
597874467	CV3846377	single nucleotide variant	NM_001164277.2(SLC37A4):c.224G>A (p.Ser75Asn)	Glucose-6-phosphate transport defect [RCV005177260]	uncertain significance	11	119028351	119028351	Human	1	name
597871679	CV3849362	single nucleotide variant	NM_001164277.2(SLC37A4):c.292T>G (p.Ser98Ala)	Glucose-6-phosphate transport defect [RCV005197543]	uncertain significance	11	119028283	119028283	Human	1	name
597930855	CV3862386	single nucleotide variant	NM_001164277.2(SLC37A4):c.170C>T (p.Ser57Leu)	Glucose-6-phosphate transport defect [RCV005206631]	uncertain significance	11	119028405	119028405	Human	1	name
13498934	CV460908	single nucleotide variant	NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=)	Glucose-6-phosphate transport defect [RCV000530853]	likely benign	11	119024970	119024970	Human	1	name
13509446	CV481469	single nucleotide variant	NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)	Glucose-6-phosphate transport defect [RCV000578424]	pathogenic	11	119029260	119029260	Human	1	name
13541906	CV504094	single nucleotide variant	NM_001164277.2(SLC37A4):c.1098C>T (p.His366=)	Glucose-6-phosphate transport defect [RCV000908302]\|not specified [RCV000616803]	likely benign	11	119025216	119025216	Human	1	name
13618020	CV526098	duplication	NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)	Glucose-6-phosphate transport defect [RCV000634550]	pathogenic	11	119028229	119028230	Human	1	name
13618018	CV526433	single nucleotide variant	NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)	Glucose-6-phosphate transport defect [RCV000634549]\|Inborn genetic diseases [RCV002420701]\|Phosphate transport defect [RCV002483792]\|not provided [RCV001555579]	uncertain significance	11	119028370	119028370	Human	4	name
13786695	CV545441	single nucleotide variant	NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)	Glucose-6-phosphate transport defect [RCV000673037]	likely benign	11	119025036	119025036	Human	1	name
13786403	CV545485	single nucleotide variant	NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=)	Glucose-6-phosphate transport defect [RCV000672798]	likely benign	11	119025213	119025213	Human	1	name
13788796	CV545487	single nucleotide variant	NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=)	Glucose-6-phosphate transport defect [RCV000665590]	likely benign	11	119025237	119025237	Human	1	name
13789826	CV545500	single nucleotide variant	NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=)	Glucose-6-phosphate transport defect [RCV000674706]	likely benign	11	119025306	119025306	Human	1	name
13792071	CV545642	deletion	NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)	Glucose-6-phosphate transport defect [RCV000668254]	pathogenic\|likely pathogenic	11	119027658	119027658	Human	1	name
13789946	CV545737	single nucleotide variant	NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu)	Glucose-6-phosphate transport defect [RCV000666263]	uncertain significance	11	119028293	119028293	Human	1	name
13782906	CV545739	single nucleotide variant	NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr)	Glucose-6-phosphate transport defect [RCV000669458]	uncertain significance	11	119028297	119028297	Human	1	name
13783493	CV545741	single nucleotide variant	NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile)	Glucose-6-phosphate transport defect [RCV000670101]	uncertain significance	11	119028307	119028307	Human	1	name
13786139	CV545744	single nucleotide variant	NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp)	Glucose-6-phosphate transport defect [RCV000672612]	uncertain significance	11	119028373	119028373	Human	1	name
13786833	CV545747	single nucleotide variant	NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser)	Glucose-6-phosphate transport defect [RCV000673130]	uncertain significance	11	119028390	119028390	Human	1	name
13789362	CV545749	single nucleotide variant	NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His)	Glucose-6-phosphate transport defect [RCV000674473]	uncertain significance	11	119028397	119028397	Human	1	name
13788392	CV545783	single nucleotide variant	NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=)	Glucose-6-phosphate transport defect [RCV000673939]	likely benign	11	119024919	119024919	Human	1	name
13784233	CV545784	single nucleotide variant	NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala)	Glucose-6-phosphate transport defect [RCV000670668]\|Inborn genetic diseases [RCV002386149]	uncertain significance	11	119029243	119029243	Human	2	name
13788808	CV545787	single nucleotide variant	NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val)	Glucose-6-phosphate transport defect [RCV000665598]	uncertain significance	11	119029267	119029267	Human	1	name
13789347	CV545794	single nucleotide variant	NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=)	Glucose-6-phosphate transport defect [RCV000665952]	likely benign	11	119025015	119025015	Human	1	name
13789923	CV545838	single nucleotide variant	NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=)	Glucose-6-phosphate transport defect [RCV000666249]	likely benign	11	119025246	119025246	Human	1	name
13786256	CV545842	single nucleotide variant	NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=)	Glucose-6-phosphate transport defect [RCV000672683]	likely benign	11	119025272	119025272	Human	1	name
13786232	CV545854	single nucleotide variant	NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=)	Glucose-6-phosphate transport defect [RCV000672668]	likely benign	11	119025027	119025027	Human	1	name
13782553	CV545892	single nucleotide variant	NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=)	Glucose-6-phosphate transport defect [RCV000669003]	likely benign	11	119025243	119025243	Human	1	name
13787247	CV545894	single nucleotide variant	NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=)	Glucose-6-phosphate transport defect [RCV000664731]\|Inborn genetic diseases [RCV002369791]	likely benign	11	119025291	119025291	Human	2	name
13786422	CV545978	deletion	NM_001164277.2(SLC37A4):c.805del (p.Leu269fs)	Glucose-6-phosphate transport defect [RCV000672809]	likely pathogenic	11	119026668	119026668	Human	1	name
13790401	CV545992	deletion	NM_001164277.2(SLC37A4):c.676del (p.Leu226fs)	Glucose-6-phosphate transport defect [RCV000666518]	likely pathogenic	11	119027045	119027045	Human	1	name
13788349	CV546021	deletion	NM_001164277.2(SLC37A4):c.370del (p.Val124fs)	Glucose-6-phosphate transport defect [RCV000665324]	pathogenic\|likely pathogenic	11	119028205	119028205	Human	1	name
13784616	CV546049	single nucleotide variant	NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr)	Glucose-6-phosphate transport defect [RCV000671059]	uncertain significance	11	119028351	119028351	Human	1	name
13791321	CV546051	single nucleotide variant	NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu)	Glucose-6-phosphate transport defect [RCV000667328]	uncertain significance	11	119028358	119028358	Human	1	name
13789797	CV546068	single nucleotide variant	NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val)	Glucose-6-phosphate transport defect [RCV000674689]	uncertain significance	11	119028312	119028312	Human	1	name
13788942	CV546074	single nucleotide variant	NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys)	Glucose-6-phosphate transport defect [RCV000674237]	uncertain significance	11	119028358	119028358	Human	1	name
13786035	CV546077	single nucleotide variant	NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)	Glucose-6-phosphate transport defect [RCV000672497]\|Phosphate transport defect [RCV002493111]	uncertain significance	11	119028402	119028402	Human	3	name
13787992	CV546088	single nucleotide variant	NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly)	Glucose-6-phosphate transport defect [RCV000673739]	uncertain significance	11	119028415	119028415	Human	1	name
13788950	CV546164	single nucleotide variant	NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=)	Glucose-6-phosphate transport defect [RCV000665687]	likely benign	11	119025282	119025282	Human	1	name
13790486	CV546355	single nucleotide variant	NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu)	Glucose-6-phosphate transport defect [RCV000666579]	uncertain significance	11	119028335	119028335	Human	1	name
13787553	CV546358	single nucleotide variant	NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val)	Glucose-6-phosphate transport defect [RCV000664910]	uncertain significance	11	119028348	119028348	Human	1	name
13790579	CV546368	single nucleotide variant	NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val)	Glucose-6-phosphate transport defect [RCV000666657]	uncertain significance	11	119028391	119028391	Human	1	name
13791589	CV546372	single nucleotide variant	NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile)	Glucose-6-phosphate transport defect [RCV000667639]	uncertain significance	11	119028417	119028417	Human	1	name
13785255	CV546389	single nucleotide variant	NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly)	Glucose-6-phosphate transport defect [RCV000671840]	uncertain significance	11	119029230	119029230	Human	1	name
13786828	CV546391	single nucleotide variant	NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly)	Glucose-6-phosphate transport defect [RCV000673126]	uncertain significance	11	119029248	119029248	Human	1	name
13813937	CV567063	single nucleotide variant	NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu)	Glucose-6-phosphate transport defect [RCV000690503]	uncertain significance	11	119028421	119028421	Human	1	name
14691085	CV621345	duplication	NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)	Glucose-6-phosphate transport defect [RCV000781849]\|Phosphate transport defect [RCV002501021]	pathogenic\|likely pathogenic	11	119028215	119028216	Human	3	name
14703130	CV639761	duplication	NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)	Glucose-6-phosphate transport defect [RCV000807219]	pathogenic	11	119026014	119026015	Human	1	name
14737454	CV639767	deletion	NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)	Glucose-6-phosphate transport defect [RCV000820470]	pathogenic	11	119027794	119027794	Human	1	name
14713081	CV639769	single nucleotide variant	NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)	Glucose-6-phosphate transport defect [RCV000810477]\|Inborn genetic diseases [RCV003166293]\|Phosphate transport defect [RCV002487759]\|not provided [RCV001553060]	uncertain significance	11	119028333	119028333	Human	4	name
14712172	CV639771	single nucleotide variant	NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)	Glucose-6-phosphate transport defect [RCV000810201]	pathogenic\|likely pathogenic	11	119028405	119028405	Human	1	name
14730974	CV639772	single nucleotide variant	NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu)	Glucose-6-phosphate transport defect [RCV000817625]\|Inborn genetic diseases [RCV003279104]	uncertain significance	11	119029229	119029229	Human	2	name
15165632	CV724233	single nucleotide variant	NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=)	Glucose-6-phosphate transport defect [RCV000882456]\|Inborn genetic diseases [RCV004669162]\|not provided [RCV003424442]	likely benign	11	119025072	119025072	Human	2	name
15145348	CV768240	single nucleotide variant	NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=)	Glucose-6-phosphate transport defect [RCV000944571]\|Inborn genetic diseases [RCV002382166]\|not provided [RCV005243425]	likely benign	11	119025288	119025288	Human	2	name
15130429	CV783886	single nucleotide variant	NM_001164277.2(SLC37A4):c.1113C>T (p.Leu371=)	Glucose-6-phosphate transport defect [RCV001453878]	likely benign	11	119025201	119025201	Human	1	name
15144027	CV783887	single nucleotide variant	NM_001164277.2(SLC37A4):c.1074T>C (p.Pro358=)	Glucose-6-phosphate transport defect [RCV000983425]	likely benign	11	119025240	119025240	Human	1	name
21070174	CV789750	deletion	NM_001164277.2(SLC37A4):c.818del (p.Gly273fs)	Glucose-6-phosphate transport defect [RCV005092965]\|not provided [RCV000986137]	pathogenic	11	119026655	119026655	Human	1	name
8624074	CV79162	single nucleotide variant	NM_001164277.2(SLC37A4):c.148G>C (p.Gly50Arg)	not provided [RCV000059121]	not provided	11	119029222	119029222	Human		name
8624075	CV79163	single nucleotide variant	NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)	Glucose-6-phosphate transport defect [RCV001362661]\|Phosphate transport defect [RCV002504975]\|not provided [RCV000059122]	uncertain significance\|not provided	11	119028426	119028426	Human	3	name
8624076	CV79164	single nucleotide variant	NM_001164277.2(SLC37A4):c.162C>A (p.Ser54Arg)	not provided [RCV000059123]	not provided	11	119028413	119028413	Human		name
8624077	CV79165	single nucleotide variant	NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)	Glucose-6-phosphate transport defect [RCV003617796]\|not provided [RCV000059124]	likely pathogenic\|not provided	11	119028412	119028412	Human	1	name
8624078	CV79166	single nucleotide variant	NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)	Glucose-6-phosphate transport defect [RCV001854231]\|not provided [RCV000059125]	pathogenic\|likely pathogenic\|not provided	11	119028373	119028373	Human	1	name
8624079	CV79167	single nucleotide variant	NM_001164277.2(SLC37A4):c.254T>C (p.Leu85Pro)	not provided [RCV000059126]	not provided	11	119028321	119028321	Human		name
8624080	CV79168	single nucleotide variant	NM_001164277.2(SLC37A4):c.263G>A (p.Gly88Asp)	not provided [RCV000059127]	not provided	11	119028312	119028312	Human		name
26921534	CV838045	deletion	NM_001164277.2(SLC37A4):c.927del (p.Gly310fs)	Glucose-6-phosphate transport defect [RCV001050145]	pathogenic	11	119026024	119026024	Human	1	name
28897413	CV867115	single nucleotide variant	NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val)	Glucose-6-phosphate transport defect [RCV001873498]\|Glycogen storage disease, type I [RCV001102585]	uncertain significance	11	119028301	119028301	Human	2	name
34891124	CV905925	single nucleotide variant	NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)	Glucose-6-phosphate transport defect [RCV001174784]	pathogenic	11	119028358	119028358	Human	1	name
34891154	CV906021	single nucleotide variant	NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)	Glucose-6-phosphate transport defect [RCV001174813]	likely pathogenic	11	119028341	119028341	Human	1	name
38483092	CV926140	single nucleotide variant	NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val)	Glucose-6-phosphate transport defect [RCV001218778]	uncertain significance	11	119029225	119029225	Human	1	name
38466315	CV956405	deletion	NM_001164277.2(SLC37A4):c.929del (p.Gly310fs)	Glucose-6-phosphate transport defect [RCV001247672]	pathogenic	11	119026022	119026022	Human	1	name
38456058	CV956412	single nucleotide variant	NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)	Glucose-6-phosphate transport defect [RCV001245657]\|Phosphate transport defect [RCV002499419]	uncertain significance	11	119028345	119028345	Human	3	name
38492887	CV956413	single nucleotide variant	NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)	Glucose-6-phosphate transport defect [RCV001240365]\|Inborn genetic diseases [RCV002379916]\|Phosphate transport defect [RCV002484315]\|SLC37A4-related disorder [RCV003414042]	uncertain significance	11	119029243	119029243	Human	4	name , alternate_id
38491696	CV956414	single nucleotide variant	NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)	Glucose-6-phosphate transport defect [RCV001239609]\|Inborn genetic diseases [RCV002563947]\|Phosphate transport defect [RCV002480787]	uncertain significance	11	119029270	119029270	Human	4	name
40905865	CV978865	single nucleotide variant	NM_001164277.2(SLC37A4):c.291C>G (p.Ser97Arg)	Glucose-6-phosphate transport defect [RCV001279138]	uncertain significance	11	119028284	119028284	Human	1	name
126729048	CV985676	single nucleotide variant	NM_001164277.2(SLC37A4):c.139G>C (p.Asp47His)	Glucose-6-phosphate transport defect [RCV001293642]	uncertain significance	11	119029231	119029231	Human	1	name
126739736	CV1009537	single nucleotide variant	NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)	Glucose-6-phosphate transport defect [RCV001314282]\|Phosphate transport defect [RCV002476457]	uncertain significance	11	119026007	119026007	Human	3	name
126758822	CV1009538	single nucleotide variant	NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His)	Glucose-6-phosphate transport defect [RCV001317891]	uncertain significance	11	119027855	119027855	Human	1	name
126766184	CV1030094	single nucleotide variant	NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)	Glucose-6-phosphate transport defect [RCV001342324]\|Phosphate transport defect [RCV001579266]\|Phosphate transport defect [RCV005050342]	uncertain significance	11	119026008	119026008	Human	3	name
126760073	CV1030095	single nucleotide variant	NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp)	Glucose-6-phosphate transport defect [RCV001340308]	uncertain significance	11	119026981	119026981	Human	1	name
126917735	CV1047068	single nucleotide variant	NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser)	Glucose-6-phosphate transport defect [RCV001361336]	uncertain significance	11	119028252	119028252	Human	1	name
127273232	CV1062251	single nucleotide variant	NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)	Glucose-6-phosphate transport defect [RCV001390723]	pathogenic	11	119027760	119027760	Human	1	name
150414219	CV1199783	single nucleotide variant	NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)	Glucose-6-phosphate transport defect [RCV001579267]\|Phosphate transport defect [RCV001579268]	uncertain significance	11	119027010	119027010	Human	2	name
151351925	CV1322114	single nucleotide variant	NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter)	Glucose-6-phosphate transport defect [RCV001806737]	likely pathogenic	11	119027040	119027040	Human	1	name
151768302	CV1360500	single nucleotide variant	NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro)	Glucose-6-phosphate transport defect [RCV001874194]	uncertain significance	11	119026011	119026011	Human	1	name
151830266	CV1362612	single nucleotide variant	NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg)	Glucose-6-phosphate transport defect [RCV001993648]	uncertain significance	11	119027657	119027657	Human	1	name
151881881	CV1371058	single nucleotide variant	NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met)	Glucose-6-phosphate transport defect [RCV001886618]	uncertain significance	11	119027834	119027834	Human	1	name
151861754	CV1386327	single nucleotide variant	NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His)	Glucose-6-phosphate transport defect [RCV001905370]	uncertain significance	11	119027696	119027696	Human	1	name
151741700	CV1390730	single nucleotide variant	NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg)	Glucose-6-phosphate transport defect [RCV001985296]	uncertain significance	11	119027068	119027068	Human	1	name
151886461	CV1414987	single nucleotide variant	NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly)	Glucose-6-phosphate transport defect [RCV001887568]	uncertain significance	11	119026649	119026649	Human	1	name
151870294	CV1416976	single nucleotide variant	NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala)	Glucose-6-phosphate transport defect [RCV001998244]	uncertain significance	11	119026688	119026688	Human	1	name
8692925	CV142891	single nucleotide variant	NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)	Glucose-6-phosphate transport defect [RCV001083465]\|not provided [RCV000586546]\|not specified [RCV000128138]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	119027660	119027660	Human	1	name
151779945	CV1442659	single nucleotide variant	NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr)	Glucose-6-phosphate transport defect [RCV002009642]	uncertain significance	11	119028265	119028265	Human	1	name
151793034	CV1447033	single nucleotide variant	NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter)	Glucose-6-phosphate transport defect [RCV001876688]	pathogenic	11	119028235	119028235	Human	1	name
151764064	CV1478356	single nucleotide variant	NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val)	Glucose-6-phosphate transport defect [RCV002008199]	uncertain significance	11	119026970	119026970	Human	1	name
151740342	CV1492423	single nucleotide variant	NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro)	Glucose-6-phosphate transport defect [RCV002042166]	uncertain significance	11	119025995	119025995	Human	1	name
151733075	CV1509848	single nucleotide variant	NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)	Glucose-6-phosphate transport defect [RCV001892460]\|Inborn genetic diseases [RCV002334800]\|Phosphate transport defect [RCV002490113]	uncertain significance	11	119027751	119027751	Human	4	name
155642999	CV1706468	single nucleotide variant	NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)	Glucose-6-phosphate transport defect [RCV002287549]	likely pathogenic	11	119026685	119026685	Human	1	name
155675206	CV1786462	single nucleotide variant	NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)	Glucose-6-phosphate transport defect [RCV003099586]\|Inborn genetic diseases [RCV002454985]\|not provided [RCV005242220]	uncertain significance	11	119028219	119028219	Human	2	name
155735046	CV1809765	single nucleotide variant	NM_001164277.2(SLC37A4):c.523C>G (p.Leu175Val)	Glucose-6-phosphate transport defect [RCV003617978]\|Inborn genetic diseases [RCV002340888]	uncertain significance	11	119027731	119027731	Human	2	name
155723492	CV1824701	single nucleotide variant	NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)	Glucose-6-phosphate transport defect [RCV003100062]\|Inborn genetic diseases [RCV002449880]	uncertain significance	11	119026057	119026057	Human	2	name
10042211	CV186807	single nucleotide variant	NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	Glucose-6-phosphate transport defect [RCV000169082]\|not provided [RCV000300702]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	119026979	119026979	Human	1	name
10042273	CV186808	single nucleotide variant	NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)	Glucose-6-phosphate transport defect [RCV000169570]	pathogenic\|likely pathogenic	11	119027069	119027069	Human	1	name
156316383	CV1869898	single nucleotide variant	NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)	Glucose-6-phosphate transport defect [RCV003062770]	uncertain significance	11	119026032	119026032	Human	1	name
156395716	CV1877189	single nucleotide variant	NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)	Glucose-6-phosphate transport defect [RCV003068567]\|Inborn genetic diseases [RCV004070447]	uncertain significance	11	119027676	119027676	Human	2	name
155983862	CV1883815	single nucleotide variant	NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)	Glucose-6-phosphate transport defect [RCV003075793]	uncertain significance	11	119025972	119025972	Human	1	name
156405271	CV1893730	single nucleotide variant	NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)	Glucose-6-phosphate transport defect [RCV003069970]	uncertain significance	11	119027660	119027660	Human	1	name
156339412	CV1902540	single nucleotide variant	NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)	Glucose-6-phosphate transport defect [RCV003090270]	uncertain significance	11	119028238	119028238	Human	1	name
156417966	CV1916934	single nucleotide variant	NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)	Glucose-6-phosphate transport defect [RCV002611137]	uncertain significance	11	119026050	119026050	Human	1	name
156404139	CV1920324	single nucleotide variant	NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)	Glucose-6-phosphate transport defect [RCV002606034]	uncertain significance	11	119026677	119026677	Human	1	name
156418573	CV1922342	single nucleotide variant	NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)	Glucose-6-phosphate transport defect [RCV002611772]	uncertain significance	11	119026680	119026680	Human	1	name
156305185	CV1931281	single nucleotide variant	NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)	Glucose-6-phosphate transport defect [RCV002647850]	uncertain significance	11	119026997	119026997	Human	1	name
156434804	CV1940200	single nucleotide variant	NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)	Glucose-6-phosphate transport defect [RCV003104619]	uncertain significance	11	119026951	119026951	Human	1	name
156409141	CV1954669	single nucleotide variant	NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)	Glucose-6-phosphate transport defect [RCV002586729]	uncertain significance	11	119027029	119027029	Human	1	name
156355854	CV1975123	single nucleotide variant	NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)	Glucose-6-phosphate transport defect [RCV002602157]	uncertain significance	11	119028206	119028206	Human	1	name
155909810	CV2027909	single nucleotide variant	NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)	Glucose-6-phosphate transport defect [RCV002726715]	uncertain significance	11	119027781	119027781	Human	1	name
156339771	CV2092573	single nucleotide variant	NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)	Glucose-6-phosphate transport defect [RCV002900408]	uncertain significance	11	119027664	119027664	Human	1	name
10411033	CV211491	single nucleotide variant	NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val)	Glucose-6-phosphate transport defect [RCV001082259]\|Inborn genetic diseases [RCV002381676]\|SLC37A4-related disorder [RCV003947639]\|not provided [RCV000199412]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025323	119025323	Human	2	name , alternate_id
10409780	CV211493	single nucleotide variant	NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)	Glucose-6-phosphate transport defect [RCV001084427]\|SLC37A4-related disorder [RCV003937743]\|not provided [RCV000196846]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025983	119025983	Human	1	name , alternate_id
10411508	CV211494	single nucleotide variant	NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)	Glucose-6-phosphate transport defect [RCV001835723]\|Phosphate transport defect [RCV002492906]\|not provided [RCV000200411]	uncertain significance	11	119025995	119025995	Human	3	name
10410943	CV211495	single nucleotide variant	NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	Glucose-6-phosphate transport defect [RCV001084902]\|Phosphate transport defect [RCV001027800]\|Phosphate transport defect [RCV003224223]\|SLC37A4-related disorder [RCV003955196]\|not provided [RCV000199219]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119027757	119027757	Human	3	name , alternate_id
10410019	CV211496	single nucleotide variant	NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)	Glucose-6-phosphate transport defect [RCV001086520]\|Glycogen storage disease, type I [RCV001102581]\|Phosphate transport defect [RCV002054342]\|not provided [RCV000658627]\|not specified [RCV003330569]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119027787	119027787	Human	3	name
10411415	CV211497	single nucleotide variant	NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)	Congenital disorder of glycosylation, type IIw [RCV004820837]\|Glucose-6-phosphate transport defect [RCV001833153]\|Phosphate transport defect [RCV002492905]\|not provided [RCV000200213]	uncertain significance	11	119027821	119027821	Human	3	name
155927141	CV2145184	single nucleotide variant	NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)	Glucose-6-phosphate transport defect [RCV003013463]	uncertain significance	11	119026977	119026977	Human	1	name
156102466	CV2149181	single nucleotide variant	NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)	Glucose-6-phosphate transport defect [RCV003021097]	uncertain significance	11	119028226	119028226	Human	1	name
156140042	CV2191732	single nucleotide variant	NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)	Glucose-6-phosphate transport defect [RCV003056147]	uncertain significance	11	119028274	119028274	Human	1	name
8559642	CV21962	single nucleotide variant	NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)	Glucose-6-phosphate transport defect [RCV000007332]\|not provided [RCV000059128]	pathogenic\|not provided	11	119028223	119028223	Human	1	name
8559655	CV21975	single nucleotide variant	NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser)	Glucose-6-phosphate transport defect [RCV000007348]	pathogenic	11	119027628	119027628	Human	1	name
155956275	CV2304010	single nucleotide variant	NM_001164277.2(SLC37A4):c.632T>G (p.Leu211Trp)	Inborn genetic diseases [RCV002905588]	uncertain significance	11	119027089	119027089	Human	1	name
156298917	CV2325908	single nucleotide variant	NM_001164277.2(SLC37A4):c.311C>G (p.Ala104Gly)	Inborn genetic diseases [RCV002936196]	uncertain significance	11	119028264	119028264	Human	1	name
243060645	CV2408645	single nucleotide variant	NM_001164277.2(SLC37A4):c.311C>T (p.Ala104Val)	not provided [RCV003136774]	uncertain significance	11	119028264	119028264	Human		name
11640097	CV266301	single nucleotide variant	NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro)	Glucose-6-phosphate transport defect [RCV001279136]\|not provided [RCV000332634]	uncertain significance	11	119026073	119026073	Human	1	name
329952155	CV2668872	single nucleotide variant	NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)	Glucose-6-phosphate transport defect [RCV003475550]\|not specified [RCV003230955]	pathogenic\|uncertain significance	11	119028232	119028232	Human	1	name
11639335	CV272483	single nucleotide variant	NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val)	Glucose-6-phosphate transport defect [RCV002518026]\|not provided [RCV000319235]	uncertain significance	11	119026634	119026634	Human	1	name
401855598	CV2753016	single nucleotide variant	NM_001164277.2(SLC37A4):c.812T>A (p.Val271Asp)	Glucose-6-phosphate transport defect [RCV003338071]	uncertain significance	11	119026661	119026661	Human	1	name
401937939	CV2803933	duplication	NM_001164277.2(SLC37A4):c.1035dup (p.Ile346fs)	SLC37A4-related disorder [RCV003417011]	pathogenic	11	119025278	119025279	Human		name , trait , alternate_id
401918889	CV2831281	single nucleotide variant	NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)	Glucose-6-phosphate transport defect [RCV003444046]	likely pathogenic	11	119028231	119028231	Human	1	name
401949159	CV2836529	single nucleotide variant	NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)	Glucose-6-phosphate transport defect [RCV003472926]	likely pathogenic	11	119028210	119028210	Human	1	name
401949160	CV2836530	single nucleotide variant	NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)	Glucose-6-phosphate transport defect [RCV003472927]	pathogenic	11	119028255	119028255	Human	1	name
401949164	CV2836534	duplication	NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)	Glucose-6-phosphate transport defect [RCV003472931]	pathogenic	11	119027676	119027677	Human	1	name
401949168	CV2836538	single nucleotide variant	NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)	Glucose-6-phosphate transport defect [RCV003472935]	pathogenic	11	119026678	119026678	Human	1	name
401949172	CV2836542	deletion	NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)	Glucose-6-phosphate transport defect [RCV003472939]	pathogenic\|likely pathogenic	11	119025051	119025051	Human	1	name
401949174	CV2836544	deletion	NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)	Glucose-6-phosphate transport defect [RCV003472941]	pathogenic\|likely pathogenic	11	119025249	119025249	Human	1	name
401949177	CV2836547	deletion	NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)	Glucose-6-phosphate transport defect [RCV003472944]	likely pathogenic	11	119025232	119025232	Human	1	name
404993714	CV2851045	single nucleotide variant	NM_001164277.2(SLC37A4):c.425C>T (p.Ser142Leu)	not provided [RCV003491501]	uncertain significance	11	119027829	119027829	Human		name
402491375	CV2865876	single nucleotide variant	NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)	Glucose-6-phosphate transport defect [RCV003507694]	pathogenic	11	119025325	119025325	Human	1	name
402498715	CV2881396	single nucleotide variant	NM_001164277.2(SLC37A4):c.956G>T (p.Arg319Leu)	Glucose-6-phosphate transport defect [RCV003508479]	uncertain significance	11	119025995	119025995	Human	1	name
402491722	CV2911481	single nucleotide variant	NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)	Glucose-6-phosphate transport defect [RCV003507732]	pathogenic	11	119027041	119027041	Human	1	name
402492694	CV2922529	single nucleotide variant	NM_001164277.2(SLC37A4):c.743A>G (p.Gln248Arg)	Glucose-6-phosphate transport defect [RCV003507810]	uncertain significance	11	119026978	119026978	Human	1	name
402492383	CV2931662	single nucleotide variant	NM_001164277.2(SLC37A4):c.615G>C (p.Glu205Asp)	Glucose-6-phosphate transport defect [RCV003507778]	uncertain significance	11	119027638	119027638	Human	1	name
402492786	CV2931912	single nucleotide variant	NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)	Glucose-6-phosphate transport defect [RCV003507820]	pathogenic	11	119027844	119027844	Human	1	name
405129594	CV2943979	deletion	NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)	Glucose-6-phosphate transport defect [RCV003618132]\|not provided [RCV004593380]	pathogenic\|likely pathogenic	11	119025025	119025025	Human	1	name
405132753	CV2976792	single nucleotide variant	NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)	Glucose-6-phosphate transport defect [RCV003618467]	pathogenic	11	119027841	119027841	Human	1	name
405134432	CV2987063	single nucleotide variant	NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)	Glucose-6-phosphate transport defect [RCV003618639]	uncertain significance	11	119027630	119027630	Human	1	name
405135673	CV2996133	deletion	NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)	Glucose-6-phosphate transport defect [RCV003618767]	pathogenic	11	119025235	119025235	Human	1	name
405134667	CV2997839	deletion	NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)	Glucose-6-phosphate transport defect [RCV003618663]	pathogenic	11	119025010	119025010	Human	1	name
405135395	CV2999244	single nucleotide variant	NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)	Glucose-6-phosphate transport defect [RCV003618738]	uncertain significance	11	119027672	119027672	Human	1	name
405135309	CV3002076	single nucleotide variant	NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)	Glucose-6-phosphate transport defect [RCV003618729]	uncertain significance	11	119026023	119026023	Human	1	name
405126494	CV3042822	single nucleotide variant	NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)	Glucose-6-phosphate transport defect [RCV003617731]	uncertain significance	11	119028228	119028228	Human	1	name
405136707	CV3056975	single nucleotide variant	NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)	Glucose-6-phosphate transport defect [RCV003618890]	uncertain significance	11	119027640	119027640	Human	1	name
405137767	CV3062014	single nucleotide variant	NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)	Glucose-6-phosphate transport defect [RCV003618967]	uncertain significance	11	119025990	119025990	Human	1	name
405139181	CV3072313	single nucleotide variant	NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)	Glucose-6-phosphate transport defect [RCV003619132]	uncertain significance	11	119026002	119026002	Human	1	name
405138192	CV3072769	single nucleotide variant	NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)	Glucose-6-phosphate transport defect [RCV003619009]	uncertain significance	11	119027842	119027842	Human	1	name
405094613	CV3134734	single nucleotide variant	NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)	Glucose-6-phosphate transport defect [RCV003835080]	uncertain significance	11	119027655	119027655	Human	1	name
405255574	CV3172555	single nucleotide variant	NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)	Glucose-6-phosphate transport defect [RCV003872493]	uncertain significance	11	119026007	119026007	Human	1	name
405269891	CV3198009	single nucleotide variant	NM_001164277.2(SLC37A4):c.875G>C (p.Gly292Ala)	SLC37A4-related disorder [RCV003899820]	uncertain significance	11	119026076	119026076	Human		name , trait , alternate_id
405869774	CV3399496	deletion	NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)	Glucose-6-phosphate transport defect [RCV004573641]	likely pathogenic	11	119024999	119024999	Human	1	name
405869776	CV3399498	single nucleotide variant	NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter)	Glucose-6-phosphate transport defect [RCV004573643]	likely pathogenic	11	119026995	119026995	Human	1	name
408384831	CV3506316	single nucleotide variant	NM_001164277.2(SLC37A4):c.964G>A (p.Val322Met)	SLC37A4-related disorder [RCV004732151]	uncertain significance	11	119025987	119025987	Human		name , trait , alternate_id
597626974	CV3599861	single nucleotide variant	NM_001164277.2(SLC37A4):c.890G>A (p.Gly297Glu)	Inborn genetic diseases [RCV004966297]	uncertain significance	11	119026061	119026061	Human	1	name
597722460	CV3723705	single nucleotide variant	NM_001164277.2(SLC37A4):c.434T>C (p.Met145Thr)	Phosphate transport defect [RCV005050021]	uncertain significance	11	119027820	119027820	Human	3	name
597852029	CV3737595	single nucleotide variant	NM_001164277.2(SLC37A4):c.388G>C (p.Glu130Gln)	Glucose-6-phosphate transport defect [RCV005066368]	uncertain significance	11	119027866	119027866	Human	1	name
597916019	CV3771491	single nucleotide variant	NM_001164277.2(SLC37A4):c.636G>C (p.Lys212Asn)	Glucose-6-phosphate transport defect [RCV005114422]	uncertain significance	11	119027085	119027085	Human	1	name
597971149	CV3802461	single nucleotide variant	NM_001164277.2(SLC37A4):c.781G>C (p.Val261Leu)	Glucose-6-phosphate transport defect [RCV005142059]	uncertain significance	11	119026940	119026940	Human	1	name
597911963	CV3807036	single nucleotide variant	NM_001164277.2(SLC37A4):c.709T>G (p.Phe237Val)	Glucose-6-phosphate transport defect [RCV005154407]	uncertain significance	11	119027012	119027012	Human	1	name
597942898	CV3816346	single nucleotide variant	NM_001164277.2(SLC37A4):c.983A>G (p.Lys328Arg)	Glucose-6-phosphate transport defect [RCV005159407]	uncertain significance	11	119025968	119025968	Human	1	name
597972834	CV3819943	single nucleotide variant	NM_001164277.2(SLC37A4):c.799A>G (p.Ser267Gly)	Glucose-6-phosphate transport defect [RCV005167657]	uncertain significance	11	119026674	119026674	Human	1	name
597975306	CV3832328	single nucleotide variant	NM_001164277.2(SLC37A4):c.670C>T (p.Pro224Ser)	Glucose-6-phosphate transport defect [RCV005169065]	uncertain significance	11	119027051	119027051	Human	1	name
597873068	CV3836232	single nucleotide variant	NM_001164277.2(SLC37A4):c.580G>A (p.Val194Ile)	Glucose-6-phosphate transport defect [RCV005177029]	uncertain significance	11	119027673	119027673	Human	1	name
597915733	CV3845646	single nucleotide variant	NM_001164277.2(SLC37A4):c.517G>A (p.Gly173Arg)	Glucose-6-phosphate transport defect [RCV005183441]	uncertain significance	11	119027737	119027737	Human	1	name
597944553	CV3847910	single nucleotide variant	NM_001164277.2(SLC37A4):c.403G>T (p.Gly135Cys)	Glucose-6-phosphate transport defect [RCV005188640]	uncertain significance	11	119027851	119027851	Human	1	name
597944646	CV3847933	single nucleotide variant	NM_001164277.2(SLC37A4):c.811G>T (p.Val271Phe)	Glucose-6-phosphate transport defect [RCV005188663]	uncertain significance	11	119026662	119026662	Human	1	name
597957794	CV3848953	single nucleotide variant	NM_001164277.2(SLC37A4):c.472A>G (p.Ile158Val)	Glucose-6-phosphate transport defect [RCV005191954]	uncertain significance	11	119027782	119027782	Human	1	name
598243393	CV3914911	single nucleotide variant	NM_001164277.2(SLC37A4):c.682G>C (p.Val228Leu)	Inborn genetic diseases [RCV005276700]	uncertain significance	11	119027039	119027039	Human	1	name
598243406	CV3914913	single nucleotide variant	NM_001164277.2(SLC37A4):c.410G>C (p.Trp137Ser)	Inborn genetic diseases [RCV005276702]	uncertain significance	11	119027844	119027844	Human	1	name
598243410	CV3914915	single nucleotide variant	NM_001164277.2(SLC37A4):c.562C>A (p.His188Asn)	Inborn genetic diseases [RCV005276703]	uncertain significance	11	119027691	119027691	Human	1	name
13212424	CV425908	single nucleotide variant	NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln)	Glucose-6-phosphate transport defect [RCV001240285]\|Glycogen storage disease, type I [RCV001102583]\|Inborn genetic diseases [RCV002524068]\|SLC37A4-related disorder [RCV004752916]\|not provided [RCV000498803]	uncertain significance	11	119028198	119028198	Human	3	name , alternate_id
13435542	CV432303	single nucleotide variant	NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)	Glucose-6-phosphate transport defect [RCV000505570]	likely pathogenic	11	119026635	119026635	Human	1	name
13483962	CV444736	single nucleotide variant	NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe)	Glucose-6-phosphate transport defect [RCV001247991]\|Inborn genetic diseases [RCV002525243]\|not provided [RCV000522203]	uncertain significance	11	119027021	119027021	Human	2	name
13500703	CV460946	single nucleotide variant	NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr)	Glucose-6-phosphate transport defect [RCV000538033]	uncertain significance	11	119027646	119027646	Human	1	name
13497413	CV461241	single nucleotide variant	NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val)	Glucose-6-phosphate transport defect [RCV000524561]\|Inborn genetic diseases [RCV002377036]\|SLC37A4-related disorder [RCV003935410]\|not provided [RCV001547830]	likely benign\|uncertain significance	11	119026079	119026079	Human	2	name , alternate_id
13518894	CV486068	duplication	NM_001164277.2(SLC37A4):c.612dup (p.Glu205Ter)	not provided [RCV000585200]	likely pathogenic	11	119027640	119027641	Human		name
13524091	CV488373	single nucleotide variant	NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg)	Glucose-6-phosphate transport defect [RCV000705165]\|Inborn genetic diseases [RCV002350420]\|not provided [RCV000593826]	uncertain significance	11	119027762	119027762	Human	2	name
13788857	CV545513	single nucleotide variant	NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu)	Glucose-6-phosphate transport defect [RCV000665629]	uncertain significance	11	119025317	119025317	Human	1	name
13787515	CV545543	single nucleotide variant	NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser)	Glucose-6-phosphate transport defect [RCV000673495]	uncertain significance	11	119026047	119026047	Human	1	name
13789005	CV545545	single nucleotide variant	NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His)	Glucose-6-phosphate transport defect [RCV000665724]	uncertain significance	11	119026065	119026065	Human	1	name
13782500	CV545556	single nucleotide variant	NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg)	Glucose-6-phosphate transport defect [RCV000668942]	uncertain significance	11	119026077	119026077	Human	1	name
13783222	CV545565	single nucleotide variant	NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg)	Glucose-6-phosphate transport defect [RCV000669846]	uncertain significance	11	119026942	119026942	Human	1	name
13789763	CV545570	single nucleotide variant	NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys)	Glucose-6-phosphate transport defect [RCV000674674]	uncertain significance	11	119026961	119026961	Human	1	name
13782465	CV545574	single nucleotide variant	NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala)	Glucose-6-phosphate transport defect [RCV000668892]	uncertain significance	11	119027000	119027000	Human	1	name
13787312	CV545580	single nucleotide variant	NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu)	Glucose-6-phosphate transport defect [RCV000673387]	uncertain significance	11	119027018	119027018	Human	1	name
13787917	CV545591	single nucleotide variant	NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met)	Glucose-6-phosphate transport defect [RCV000673703]	uncertain significance	11	119027039	119027039	Human	1	name
13787417	CV545593	single nucleotide variant	NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser)	Glucose-6-phosphate transport defect [RCV000673445]	uncertain significance	11	119027041	119027041	Human	1	name
13789943	CV545637	single nucleotide variant	NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys)	Glucose-6-phosphate transport defect [RCV000666262]	uncertain significance	11	119027642	119027642	Human	1	name
13792088	CV545641	single nucleotide variant	NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile)	Glucose-6-phosphate transport defect [RCV000668272]	uncertain significance	11	119027647	119027647	Human	1	name
13786200	CV545662	single nucleotide variant	NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe)	Glucose-6-phosphate transport defect [RCV000672649]	uncertain significance	11	119027673	119027673	Human	1	name
13789294	CV545676	single nucleotide variant	NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe)	Glucose-6-phosphate transport defect [RCV000674436]	uncertain significance	11	119027703	119027703	Human	1	name
13787016	CV545678	single nucleotide variant	NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly)	Glucose-6-phosphate transport defect [RCV000664598]	uncertain significance	11	119027775	119027775	Human	1	name
13789038	CV545692	single nucleotide variant	NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly)	Glucose-6-phosphate transport defect [RCV000665746]	uncertain significance	11	119027824	119027824	Human	1	name
13791451	CV545694	single nucleotide variant	NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys)	Glucose-6-phosphate transport defect [RCV000667475]	uncertain significance	11	119027866	119027866	Human	1	name
13791806	CV545699	single nucleotide variant	NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly)	Glucose-6-phosphate transport defect [RCV000667922]	uncertain significance	11	119027872	119027872	Human	1	name
13788810	CV545853	single nucleotide variant	NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)	Glucose-6-phosphate transport defect [RCV000665599]	uncertain significance	11	119025321	119025321	Human	1	name
13789949	CV545857	single nucleotide variant	NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser)	Glucose-6-phosphate transport defect [RCV000666264]	uncertain significance	11	119025325	119025325	Human	1	name
13789200	CV545914	single nucleotide variant	NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile)	Glucose-6-phosphate transport defect [RCV000665846]	uncertain significance	11	119025993	119025993	Human	1	name
13790810	CV545916	single nucleotide variant	NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr)	Glucose-6-phosphate transport defect [RCV000666817]	uncertain significance	11	119026028	119026028	Human	1	name
13787184	CV545917	single nucleotide variant	NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val)	Glucose-6-phosphate transport defect [RCV000673318]	uncertain significance	11	119026020	119026020	Human	1	name
13788678	CV545919	single nucleotide variant	NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr)	Glucose-6-phosphate transport defect [RCV000674092]	uncertain significance	11	119026026	119026026	Human	1	name
13788499	CV545921	single nucleotide variant	NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)	Glucose-6-phosphate transport defect [RCV000665412]\|Phosphate transport defect [RCV002493083]	uncertain significance	11	119026050	119026050	Human	3	name
13782663	CV545933	single nucleotide variant	NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp)	Glucose-6-phosphate transport defect [RCV000669148]	uncertain significance	11	119026065	119026065	Human	1	name
13786066	CV545936	single nucleotide variant	NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met)	Glucose-6-phosphate transport defect [RCV000672537]	uncertain significance	11	119026074	119026074	Human	1	name
13789299	CV545943	single nucleotide variant	NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val)	Glucose-6-phosphate transport defect [RCV000665911]	uncertain significance	11	119026607	119026607	Human	1	name
13784699	CV545950	single nucleotide variant	NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn)	Glucose-6-phosphate transport defect [RCV000671170]	uncertain significance	11	119026603	119026603	Human	1	name
13792065	CV545951	single nucleotide variant	NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val)	Glucose-6-phosphate transport defect [RCV000668248]	uncertain significance	11	119026611	119026611	Human	1	name
13787714	CV545954	single nucleotide variant	NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala)	Glucose-6-phosphate transport defect [RCV000673600]	uncertain significance	11	119026646	119026646	Human	1	name
13789660	CV545969	single nucleotide variant	NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu)	Glucose-6-phosphate transport defect [RCV000674619]	uncertain significance	11	119026974	119026974	Human	1	name
13786291	CV545974	single nucleotide variant	NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr)	Glucose-6-phosphate transport defect [RCV000672710]	uncertain significance	11	119026993	119026993	Human	1	name
13783234	CV545976	single nucleotide variant	NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile)	Glucose-6-phosphate transport defect [RCV000669863]	uncertain significance	11	119026650	119026650	Human	1	name
13789883	CV545977	single nucleotide variant	NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser)	Glucose-6-phosphate transport defect [RCV000674738]	uncertain significance	11	119026996	119026996	Human	1	name
13789518	CV545981	single nucleotide variant	NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val)	Glucose-6-phosphate transport defect [RCV000666035]	uncertain significance	11	119026670	119026670	Human	1	name
13791917	CV545984	single nucleotide variant	NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)	Glucose-6-phosphate transport defect [RCV000668062]\|Phosphate transport defect [RCV002485543]	uncertain significance	11	119027042	119027042	Human	3	name
13789304	CV546006	single nucleotide variant	NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp)	Glucose-6-phosphate transport defect [RCV000674442]	uncertain significance	11	119027683	119027683	Human	1	name
13788057	CV546010	single nucleotide variant	NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln)	Glucose-6-phosphate transport defect [RCV000673776]	uncertain significance	11	119027832	119027832	Human	1	name
13787623	CV546012	single nucleotide variant	NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr)	Glucose-6-phosphate transport defect [RCV000673556]	uncertain significance	11	119027693	119027693	Human	1	name
13783361	CV546017	single nucleotide variant	NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp)	Glucose-6-phosphate transport defect [RCV000670007]	uncertain significance	11	119028204	119028204	Human	1	name
13787560	CV546023	single nucleotide variant	NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr)	Glucose-6-phosphate transport defect [RCV000664914]	uncertain significance	11	119028207	119028207	Human	1	name
13790003	CV546025	single nucleotide variant	NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr)	Glucose-6-phosphate transport defect [RCV000674798]	uncertain significance	11	119027734	119027734	Human	1	name
13787763	CV546030	single nucleotide variant	NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala)	Glucose-6-phosphate transport defect [RCV000673626]	uncertain significance	11	119027865	119027865	Human	1	name
13790095	CV546033	single nucleotide variant	NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg)	Glucose-6-phosphate transport defect [RCV000666350]	uncertain significance	11	119027872	119027872	Human	1	name
13786439	CV546037	single nucleotide variant	NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu)	Glucose-6-phosphate transport defect [RCV000672821]	uncertain significance	11	119028273	119028273	Human	1	name
13788673	CV546056	single nucleotide variant	NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp)	Glucose-6-phosphate transport defect [RCV000665513]	uncertain significance	11	119028243	119028243	Human	1	name
13789469	CV546060	single nucleotide variant	NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu)	Glucose-6-phosphate transport defect [RCV000666013]	uncertain significance	11	119028266	119028266	Human	1	name
13784010	CV546171	single nucleotide variant	NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile)	Glucose-6-phosphate transport defect [RCV000670487]	uncertain significance	11	119025329	119025329	Human	1	name
13783678	CV546195	insertion	NM_001164277.2(SLC37A4):c.985+240_985+241insTA	Glucose-6-phosphate transport defect [RCV000670235]	uncertain significance	11	119025726	119025727	Human	1	name
13784130	CV546219	single nucleotide variant	NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu)	Glucose-6-phosphate transport defect [RCV000670580]	uncertain significance	11	119025993	119025993	Human	1	name
13785310	CV546223	single nucleotide variant	NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met)	Glucose-6-phosphate transport defect [RCV000671902]	uncertain significance	11	119026014	119026014	Human	1	name
13783729	CV546226	single nucleotide variant	NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr)	Glucose-6-phosphate transport defect [RCV000670284]	uncertain significance	11	119026031	119026031	Human	1	name
13785020	CV546235	single nucleotide variant	NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser)	Glucose-6-phosphate transport defect [RCV000671531]	uncertain significance	11	119026067	119026067	Human	1	name
13782461	CV546271	single nucleotide variant	NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile)	Glucose-6-phosphate transport defect [RCV000668885]	uncertain significance	11	119027006	119027006	Human	1	name
13790912	CV546295	single nucleotide variant	NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)	Glucose-6-phosphate transport defect [RCV000666885]\|not specified [RCV002271553]	uncertain significance	11	119027628	119027628	Human	1	name
13791415	CV546299	single nucleotide variant	NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly)	Glucose-6-phosphate transport defect [RCV000667432]	uncertain significance	11	119027675	119027675	Human	1	name
13785795	CV546318	single nucleotide variant	NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr)	Glucose-6-phosphate transport defect [RCV000672284]	uncertain significance	11	119027746	119027746	Human	1	name
13791083	CV546331	single nucleotide variant	NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro)	Glucose-6-phosphate transport defect [RCV000667054]\|Inborn genetic diseases [RCV003278980]	uncertain significance	11	119027802	119027802	Human	2	name
13791725	CV546333	single nucleotide variant	NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu)	Glucose-6-phosphate transport defect [RCV000667820]	uncertain significance	11	119027852	119027852	Human	1	name
13786778	CV546397	deletion	NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	Glucose-6-phosphate transport defect [RCV000673099]\|Phosphate transport defect [RCV002499185]	pathogenic\|likely pathogenic	11	119029293	119029296	Human	3	name
13821770	CV565529	single nucleotide variant	NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu)	Glucose-6-phosphate transport defect [RCV000696358]	uncertain significance	11	119027653	119027653	Human	1	name
13815038	CV570368	single nucleotide variant	NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)	Glucose-6-phosphate transport defect [RCV000705438]\|Glycogen storage disease, type I [RCV001107825]\|Inborn genetic diseases [RCV002534437]\|Phosphate transport defect [RCV002485763]	uncertain significance	11	119027739	119027739	Human	5	name
13834828	CV586078	single nucleotide variant	NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)	Glucose-6-phosphate transport defect [RCV001579264]\|Inborn genetic diseases [RCV002343595]\|Phosphate transport defect [RCV001579265]\|Phosphate transport defect [RCV002485875]\|not provided [RCV000730440]	uncertain significance	11	119027697	119027697	Human	4	name
14396519	CV612291	single nucleotide variant	NM_001164277.2(SLC37A4):c.752T>C (p.Leu251Pro)	Glucose-6-phosphate transport defect [RCV000761499]	uncertain significance	11	119026969	119026969	Human	1	name
14735558	CV639762	single nucleotide variant	NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln)	Glucose-6-phosphate transport defect [RCV000819639]\|Inborn genetic diseases [RCV004678846]\|not provided [RCV001729714]	uncertain significance	11	119026616	119026616	Human	2	name
14712401	CV639764	single nucleotide variant	NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)	Glucose-6-phosphate transport defect [RCV000810273]\|Phosphate transport defect [RCV002487755]	uncertain significance	11	119027090	119027090	Human	3	name
14745277	CV639765	single nucleotide variant	NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)	Glucose-6-phosphate transport defect [RCV000824605]\|Phosphate transport defect [RCV002487862]	uncertain significance	11	119027663	119027663	Human	3	name
14701099	CV639766	single nucleotide variant	NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys)	Glucose-6-phosphate transport defect [RCV000806039]	uncertain significance	11	119027714	119027714	Human	1	name
14730143	CV639768	single nucleotide variant	NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg)	Glucose-6-phosphate transport defect [RCV000817250]	uncertain significance	11	119028211	119028211	Human	1	name
15141516	CV712638	single nucleotide variant	NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)	Glucose-6-phosphate transport defect [RCV001084431]\|SLC37A4-related disorder [RCV003972853]\|not provided [RCV000966318]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026940	119026940	Human	1	name , alternate_id
15150006	CV737792	single nucleotide variant	NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro)	Glucose-6-phosphate transport defect [RCV000901056]\|SLC37A4-related disorder [RCV003912866]	likely benign	11	119027093	119027093	Human	1	name , alternate_id
15174613	CV768245	single nucleotide variant	NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)	Glucose-6-phosphate transport defect [RCV000928474]\|SLC37A4-related disorder [RCV003913140]	likely benign	11	119027642	119027642	Human	1	name , alternate_id
8624081	CV79169	single nucleotide variant	NM_001164277.2(SLC37A4):c.398A>C (p.Gln133Pro)	not provided [RCV000059129]	not provided	11	119027856	119027856	Human		name
8624082	CV79170	single nucleotide variant	NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)	Glucose-6-phosphate transport defect [RCV001390447]\|not provided [RCV000059130]	pathogenic\|not provided	11	119027811	119027811	Human	1	name
8624083	CV79171	single nucleotide variant	NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)	Glucose-6-phosphate transport defect [RCV001204831]\|not provided [RCV000059131]	pathogenic\|not provided	11	119027808	119027808	Human	1	name
8624084	CV79172	single nucleotide variant	NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	Glucose-6-phosphate transport defect [RCV000794844]\|Phosphate transport defect [RCV002483116]\|not provided [RCV000059132]	pathogenic\|likely pathogenic\|not provided	11	119027806	119027806	Human	3	name
8624085	CV79173	single nucleotide variant	NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)	Glucose-6-phosphate transport defect [RCV001854232]\|not provided [RCV000059133]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	11	119027796	119027796	Human	1	name
8624086	CV79174	single nucleotide variant	NM_001164277.2(SLC37A4):c.526T>C (p.Cys176Arg)	not provided [RCV000059134]	not provided	11	119027728	119027728	Human		name
8624087	CV79175	single nucleotide variant	NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)	Congenital disorder of glycosylation, type IIw [RCV005357433]\|Glucose-6-phosphate transport defect [RCV001824595]\|not provided [RCV000059135]	pathogenic\|not provided	11	119027706	119027706	Human	2	name
8624088	CV79176	single nucleotide variant	NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	Glucose-6-phosphate transport defect [RCV000169286]\|not provided [RCV000059136]	pathogenic\|likely pathogenic\|not provided	11	119027681	119027681	Human	1	name
8624090	CV79178	single nucleotide variant	NM_001164277.2(SLC37A4):c.686T>C (p.Leu229Pro)	not provided [RCV000059138]	not provided	11	119027035	119027035	Human		name
8624092	CV79180	single nucleotide variant	NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)	Glucose-6-phosphate transport defect [RCV003474641]\|not provided [RCV000059140]	likely pathogenic\|not provided	11	119026985	119026985	Human	1	name
8624095	CV79183	single nucleotide variant	NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)	Glucose-6-phosphate transport defect [RCV000169410]\|not provided [RCV000059143]	likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	11	119026640	119026640	Human	1	name
8624096	CV79184	single nucleotide variant	NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	Glucose-6-phosphate transport defect [RCV000673809]\|not provided [RCV000059145]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	11	119026053	119026053	Human	1	name
8624097	CV79185	single nucleotide variant	NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)	Glucose-6-phosphate transport defect [RCV001388583]\|Glycogen storage disease type 1 due to SLC37A4 mutation [RCV001813754]\|Phosphate transport defect [RCV002498349]\|not provided [RCV000059146]	pathogenic\|likely pathogenic\|not provided	11	119026052	119026052	Human	4	name
8624098	CV79186	single nucleotide variant	NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)	Glucose-6-phosphate transport defect [RCV003474642]\|not provided [RCV000059147]	likely pathogenic\|not provided	11	119026049	119026049	Human	1	name
25327746	CV816318	single nucleotide variant	NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)	Glucose-6-phosphate transport defect [RCV002552012]\|Phosphate transport defect [RCV001027801]\|Phosphate transport defect [RCV002505552]	uncertain significance	11	119027758	119027758	Human	3	name
26921277	CV838044	single nucleotide variant	NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)	Glucose-6-phosphate transport defect [RCV001049603]\|Phosphate transport defect [RCV002481952]	uncertain significance	11	119025996	119025996	Human	3	name
26918492	CV838046	single nucleotide variant	NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter)	Glucose-6-phosphate transport defect [RCV001043799]	pathogenic	11	119027046	119027046	Human	1	name
26901257	CV838047	single nucleotide variant	NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)	Glucose-6-phosphate transport defect [RCV001068407]\|Phosphate transport defect [RCV002497473]	uncertain significance	11	119027709	119027709	Human	3	name
26901514	CV838048	single nucleotide variant	NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter)	Glucose-6-phosphate transport defect [RCV001068592]	pathogenic	11	119027759	119027759	Human	1	name
26897201	CV838049	single nucleotide variant	NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser)	Glucose-6-phosphate transport defect [RCV001065305]	uncertain significance	11	119028217	119028217	Human	1	name
26919692	CV838050	single nucleotide variant	NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser)	Glucose-6-phosphate transport defect [RCV001046193]	uncertain significance	11	119028220	119028220	Human	1	name
28897408	CV867113	single nucleotide variant	NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp)	Glucose-6-phosphate transport defect [RCV003507353]\|Glycogen storage disease, type I [RCV001102582]	uncertain significance	11	119027864	119027864	Human	2	name
38479876	CV935408	single nucleotide variant	NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)	Glucose-6-phosphate transport defect [RCV001206162]\|Phosphate transport defect [RCV002497703]	uncertain significance	11	119025974	119025974	Human	3	name
38499190	CV956408	single nucleotide variant	NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly)	Glucose-6-phosphate transport defect [RCV001244305]\|Inborn genetic diseases [RCV003166529]\|Phosphate transport defect [RCV005050310]\|SLC37A4-related disorder [RCV004753253]\|not provided [RCV003117861]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119026079	119026079	Human	4	name , alternate_id
38493315	CV956409	single nucleotide variant	NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)	Glucose-6-phosphate transport defect [RCV001240612]\|Phosphate transport defect [RCV002484317]\|not provided [RCV005253757]	uncertain significance	11	119026960	119026960	Human	3	name
38499194	CV956410	single nucleotide variant	NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile)	Glucose-6-phosphate transport defect [RCV001244310]\|Inborn genetic diseases [RCV003166530]\|not provided [RCV003426011]	uncertain significance	11	119027647	119027647	Human	2	name
38458763	CV956411	single nucleotide variant	NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)	Glucose-6-phosphate transport defect [RCV001246410]\|Phosphate transport defect [RCV002491832]	uncertain significance	11	119028199	119028199	Human	3	name
40905864	CV978864	single nucleotide variant	NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)	Glucose-6-phosphate transport defect [RCV001279137]\|Phosphate transport defect [RCV002480908]	uncertain significance	11	119027018	119027018	Human	3	name
126909998	CV1038025	single nucleotide variant	NM_001164277.2(SLC37A4):c.1154G>A (p.Ser385Asn)	not provided [RCV001354256]	uncertain significance	11	119025046	119025046	Human		name
127272075	CV1062248	single nucleotide variant	NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)	Glucose-6-phosphate transport defect [RCV001390356]	pathogenic	11	119025022	119025022	Human	1	name
150339272	CV1174755	single nucleotide variant	NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	Congenital disorder of glycosylation [RCV001543403]\|Congenital disorder of glycosylation, type IIw [RCV001647389]\|Phosphate transport defect [RCV002506653]	pathogenic\|likely pathogenic	11	119024933	119024933	Human	4	name
151883559	CV1337990	single nucleotide variant	NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)	Glucose-6-phosphate transport defect [RCV001962157]\|Inborn genetic diseases [RCV002550382]\|Phosphate transport defect [RCV002506916]	uncertain significance	11	119025024	119025024	Human	4	name
151890013	CV1343708	single nucleotide variant	NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)	Glucose-6-phosphate transport defect [RCV001942933]\|Phosphate transport defect [RCV002478373]	uncertain significance	11	119024913	119024913	Human	3	name
151752124	CV1397863	single nucleotide variant	NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly)	Glucose-6-phosphate transport defect [RCV001969292]	uncertain significance	11	119025196	119025196	Human	1	name
151862199	CV1408989	duplication	NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)	Glucose-6-phosphate transport defect [RCV001905428]	pathogenic	11	119029295	119029296	Human	1	name
151667896	CV1414532	single nucleotide variant	NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly)	Glucose-6-phosphate transport defect [RCV001870676]	uncertain significance	11	119025230	119025230	Human	1	name
151871692	CV1436587	single nucleotide variant	NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu)	Glucose-6-phosphate transport defect [RCV001998428]	uncertain significance	11	119024942	119024942	Human	1	name
151868387	CV1492177	single nucleotide variant	NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp)	Glucose-6-phosphate transport defect [RCV002018626]	uncertain significance	11	119025073	119025073	Human	1	name
151735177	CV1494200	single nucleotide variant	NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)	Glucose-6-phosphate transport defect [RCV001984624]\|Inborn genetic diseases [RCV004042132]\|Phosphate transport defect [RCV002507632]	uncertain significance	11	119025071	119025071	Human	4	name
151795907	CV1503652	single nucleotide variant	NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala)	Glucose-6-phosphate transport defect [RCV001973473]	uncertain significance	11	119024935	119024935	Human	1	name
155676261	CV1796092	single nucleotide variant	NM_001164277.2(SLC37A4):c.1148C>G (p.Pro383Arg)	Inborn genetic diseases [RCV002455149]	uncertain significance	11	119025052	119025052	Human	1	name
156006943	CV1870465	single nucleotide variant	NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)	Glucose-6-phosphate transport defect [RCV003076871]	uncertain significance	11	119024929	119024929	Human	1	name
156169050	CV1873985	single nucleotide variant	NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)	Glucose-6-phosphate transport defect [RCV003083171]	uncertain significance	11	119024984	119024984	Human	1	name
156333970	CV1905824	single nucleotide variant	NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)	Glucose-6-phosphate transport defect [RCV003089960]	uncertain significance	11	119025250	119025250	Human	1	name
156100160	CV1920687	single nucleotide variant	NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)	Glucose-6-phosphate transport defect [RCV002592244]	uncertain significance	11	119025289	119025289	Human	1	name
156117191	CV1952439	single nucleotide variant	NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)	Glucose-6-phosphate transport defect [RCV002571720]\|Inborn genetic diseases [RCV005281176]	uncertain significance	11	119024923	119024923	Human	2	name
10049240	CV196221	single nucleotide variant	NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)	Glucose-6-phosphate transport defect [RCV000559346]\|Inborn genetic diseases [RCV002408783]\|SLC37A4-related disorder [RCV003937641]\|not specified [RCV000180561]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	119025247	119025247	Human	2	name , alternate_id
156327392	CV2068737	single nucleotide variant	NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)	Glucose-6-phosphate transport defect [RCV002835096]	uncertain significance	11	119025215	119025215	Human	1	name
10409395	CV211488	single nucleotide variant	NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr)	Glucose-6-phosphate transport defect [RCV001220344]\|not provided [RCV000196037]	uncertain significance	11	119024980	119024980	Human	1	name
10409877	CV211489	single nucleotide variant	NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)	Glucose-6-phosphate transport defect [RCV000698406]\|Inborn genetic diseases [RCV002327041]\|SLC37A4-related disorder [RCV003955197]\|not provided [RCV000730228]	likely benign\|uncertain significance	11	119025032	119025032	Human	2	name , alternate_id
10410500	CV211490	single nucleotide variant	NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)	Glucose-6-phosphate transport defect [RCV000820095]\|Inborn genetic diseases [RCV002345709]\|Phosphate transport defect [RCV005396597]\|SLC37A4-related disorder [RCV003407703]	likely benign\|uncertain significance	11	119025302	119025302	Human	4	name , alternate_id
156023918	CV2137640	single nucleotide variant	NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)	Glucose-6-phosphate transport defect [RCV002976289]	uncertain significance	11	119025242	119025242	Human	1	name
156315908	CV2140255	single nucleotide variant	NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)	Glucose-6-phosphate transport defect [RCV003011384]	uncertain significance	11	119025193	119025193	Human	1	name
8559640	CV21960	single nucleotide variant	NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)	Glucose-6-phosphate transport defect [RCV000007330]\|not provided [RCV000059116]	pathogenic\|not provided	11	119025299	119025299	Human	1	name
8559641	CV21961	single nucleotide variant	NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)	Glucose-6-phosphate transport defect [RCV000007331]	pathogenic	11	119025251	119025251	Human	1	name
8559653	CV21973	single nucleotide variant	NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	Congenital disorder of glycosylation, type IIw [RCV003989281]\|Glucose-6-phosphate transport defect [RCV000007346]\|Phosphate transport defect [RCV001196429]\|Phosphate transport defect [RCV002496292]	pathogenic\|likely pathogenic	11	119024957	119024957	Human	3	name
8559654	CV21974	single nucleotide variant	NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)	Glucose-6-phosphate transport defect [RCV000007347]\|Phosphate transport defect [RCV002482840]\|not provided [RCV000059117]	pathogenic\|likely pathogenic\|not provided	11	119025298	119025298	Human	3	name
155924247	CV2248731	single nucleotide variant	NM_001164277.2(SLC37A4):c.1177T>G (p.Trp393Gly)	Inborn genetic diseases [RCV002773420]	uncertain significance	11	119025023	119025023	Human	1	name
329400881	CV2449721	single nucleotide variant	NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)	Glucose-6-phosphate transport defect [RCV003618061]\|Inborn genetic diseases [RCV003197843]	uncertain significance	11	119025301	119025301	Human	2	name
401902411	CV2801862	single nucleotide variant	NM_001164277.2(SLC37A4):c.1237C>T (p.Leu413Phe)	SLC37A4-related disorder [RCV003418873]	uncertain significance	11	119024963	119024963	Human		name , trait , alternate_id
401933559	CV2801914	single nucleotide variant	NM_001164277.2(SLC37A4):c.1235T>C (p.Phe412Ser)	SLC37A4-related disorder [RCV003410432]	uncertain significance	11	119024965	119024965	Human		name , trait , alternate_id
402486995	CV2916967	single nucleotide variant	NM_001164277.2(SLC37A4):c.1085G>C (p.Cys362Ser)	Glucose-6-phosphate transport defect [RCV003507096]	uncertain significance	11	119025229	119025229	Human	1	name
405133439	CV2978678	single nucleotide variant	NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)	Glucose-6-phosphate transport defect [RCV003618564]	uncertain significance	11	119025278	119025278	Human	1	name
405135366	CV2999034	single nucleotide variant	NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)	Glucose-6-phosphate transport defect [RCV003618735]	pathogenic	11	119024988	119024988	Human	1	name
405127324	CV3042751	single nucleotide variant	NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)	Glucose-6-phosphate transport defect [RCV003617729]	uncertain significance	11	119025278	119025278	Human	1	name
405137404	CV3058551	single nucleotide variant	NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)	Glucose-6-phosphate transport defect [RCV003618955]	uncertain significance	11	119024951	119024951	Human	1	name
405138141	CV3075335	single nucleotide variant	NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)	Glucose-6-phosphate transport defect [RCV003619004]	uncertain significance	11	119025076	119025076	Human	1	name
11648414	CV324615	single nucleotide variant	NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)	Glucose-6-phosphate transport defect [RCV000673349]\|Glycogen storage disease, type I [RCV000281567]	benign\|uncertain significance	11	119024975	119024975	Human	2	name
405855257	CV3394019	single nucleotide variant	NM_001164277.2(SLC37A4):c.1049G>T (p.Gly350Val)	Glucose-6-phosphate transport defect [RCV004547245]	uncertain significance	11	119025265	119025265	Human	1	name
8566892	CV34150	single nucleotide variant	NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	Glucose-6-phosphate transport defect [RCV000288403]\|not provided [RCV000059118]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	11	119025215	119025215	Human	1	name
407480815	CV3415345	deletion	NM_001164277.2(SLC37A4):c.95_97del (p.Ser32del)	Glucose-6-phosphate transport defect [RCV004596055]	likely pathogenic	11	119029273	119029275	Human	1	name
597626967	CV3599859	single nucleotide variant	NM_001164277.2(SLC37A4):c.1232T>G (p.Phe411Cys)	Inborn genetic diseases [RCV004966295]	uncertain significance	11	119024968	119024968	Human	1	name
597675152	CV3723703	single nucleotide variant	NM_001164277.2(SLC37A4):c.1217C>A (p.Ala406Asp)	Phosphate transport defect [RCV005044413]	uncertain significance	11	119024983	119024983	Human	3	name
597675163	CV3723704	single nucleotide variant	NM_001164277.2(SLC37A4):c.1066A>T (p.Ser356Cys)	Glucose-6-phosphate transport defect [RCV005063353]\|Phosphate transport defect [RCV005044414]	uncertain significance	11	119025248	119025248	Human	3	name
597964769	CV3751006	single nucleotide variant	NM_001164277.2(SLC37A4):c.1063G>A (p.Glu355Lys)	Glucose-6-phosphate transport defect [RCV005082568]	uncertain significance	11	119025251	119025251	Human	1	name
597837686	CV3758075	single nucleotide variant	NM_001164277.2(SLC37A4):c.1022C>G (p.Ser341Cys)	Glucose-6-phosphate transport defect [RCV005085909]	uncertain significance	11	119025292	119025292	Human	1	name
597974555	CV3802247	single nucleotide variant	NM_001164277.2(SLC37A4):c.1097A>T (p.His366Leu)	Glucose-6-phosphate transport defect [RCV005144023]	uncertain significance	11	119025217	119025217	Human	1	name
597867347	CV3838683	single nucleotide variant	NM_001164277.2(SLC37A4):c.1244G>A (p.Arg415Gln)	Glucose-6-phosphate transport defect [RCV005175979]	uncertain significance	11	119024956	119024956	Human	1	name
597867429	CV3838700	single nucleotide variant	NM_001164277.2(SLC37A4):c.1151T>A (p.Phe384Tyr)	Glucose-6-phosphate transport defect [RCV005175996]	uncertain significance	11	119025049	119025049	Human	1	name
597886360	CV3854938	single nucleotide variant	NM_001164277.2(SLC37A4):c.1000T>A (p.Leu334Met)	Glucose-6-phosphate transport defect [RCV005199784]	uncertain significance	11	119025314	119025314	Human	1	name
13784987	CV545847	single nucleotide variant	NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys)	Glucose-6-phosphate transport defect [RCV000671492]	uncertain significance	11	119025286	119025286	Human	1	name
13790525	CV545849	single nucleotide variant	NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)	Glucose-6-phosphate transport defect [RCV000666617]\|Phosphate transport defect [RCV002485531]	uncertain significance	11	119025025	119025025	Human	3	name
13782687	CV546119	single nucleotide variant	NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr)	Glucose-6-phosphate transport defect [RCV000669180]	uncertain significance	11	119025046	119025046	Human	1	name
13786480	CV546169	single nucleotide variant	NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val)	Glucose-6-phosphate transport defect [RCV000672845]	uncertain significance	11	119025296	119025296	Human	1	name
13833043	CV584271	single nucleotide variant	NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys)	Glucose-6-phosphate transport defect [RCV001279135]\|not provided [RCV000728185]	uncertain significance	11	119024948	119024948	Human	1	name
14703907	CV639758	single nucleotide variant	NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)	Glucose-6-phosphate transport defect [RCV000807579]\|Glycogen storage disease type 1 due to SLC37A4 mutation [RCV005359560]\|Phosphate transport defect [RCV002507401]\|not provided [RCV002281135]\|not specified [RCV002271588]	likely benign\|uncertain significance	11	119024914	119024914	Human	4	name
14701129	CV639759	single nucleotide variant	NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)	Glucose-6-phosphate transport defect [RCV000806060]\|Inborn genetic diseases [RCV002352380]\|Phosphate transport defect [RCV002477853]	uncertain significance	11	119025041	119025041	Human	4	name
14739221	CV639760	single nucleotide variant	NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)	Glucose-6-phosphate transport defect [RCV000821250]\|Phosphate transport defect [RCV001579263]\|not provided [RCV002275158]	uncertain significance	11	119025310	119025310	Human	2	name
8624072	CV79160	single nucleotide variant	NM_001164277.2(SLC37A4):c.1118C>A (p.Ala373Asp)	not provided [RCV000059119]	not provided	11	119025196	119025196	Human		name
8624073	CV79161	single nucleotide variant	NM_001164277.2(SLC37A4):c.1126G>A (p.Gly376Ser)	not provided [RCV000059120]	not provided	11	119025074	119025074	Human		name
26918381	CV838043	single nucleotide variant	NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)	Glucose-6-phosphate transport defect [RCV001043558]\|Phosphate transport defect [RCV002481906]	uncertain significance	11	119025241	119025241	Human	3	name
34895781	CV917079	single nucleotide variant	NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)	Glucose-6-phosphate transport defect [RCV001192958]	pathogenic	11	119025021	119025021	Human	1	name
38482542	CV926139	single nucleotide variant	NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp)	Glucose-6-phosphate transport defect [RCV001218512]	uncertain significance	11	119025070	119025070	Human	1	name
38462642	CV935407	single nucleotide variant	NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val)	Glucose-6-phosphate transport defect [RCV001212230]	uncertain significance	11	119025260	119025260	Human	1	name
38492574	CV956403	single nucleotide variant	NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile)	Glucose-6-phosphate transport defect [RCV001240163]	uncertain significance	11	119024944	119024944	Human	1	name
38468164	CV956404	single nucleotide variant	NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr)	Glucose-6-phosphate transport defect [RCV001247984]\|not provided [RCV004793359]	uncertain significance	11	119025211	119025211	Human	1	name
38465490	CV961865	deletion	NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)	Glucose-6-phosphate transport defect [RCV001250169]	likely pathogenic\|conflicting interpretations of pathogenicity	11	119029276	119029278	Human	1	name
126759439	CV994344	single nucleotide variant	NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe)	Glucose-6-phosphate transport defect [RCV001309019]	uncertain significance	11	119025292	119025292	Human	1	name
10042218	CV186806	duplication	NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	Glucose-6-phosphate transport defect [RCV000169130]\|Phosphate transport defect [RCV002273969]\|SLC37A4-related disorder [RCV003407627]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	119026016	119026017	Human	2	alternate_id
13787282	CV545520	insertion	NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT	Glucose-6-phosphate transport defect [RCV000664752]	likely benign	11	119025701	119025702	Human	1	name
13784034	CV545438	single nucleotide variant	NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met)	Glucose-6-phosphate transport defect [RCV000670503]	uncertain significance	11	119025005	119025005	Human	1	name
13791705	CV545490	single nucleotide variant	NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu)	Glucose-6-phosphate transport defect [RCV000667795]	uncertain significance	11	119025238	119025238	Human	1	name
13792358	CV545786	single nucleotide variant	NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser)	Glucose-6-phosphate transport defect [RCV000668612]	uncertain significance	11	119024989	119024989	Human	1	name
13783559	CV545833	single nucleotide variant	NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr)	Glucose-6-phosphate transport defect [RCV000670147]	uncertain significance	11	119025199	119025199	Human	1	name

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