Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	SNV Germline	Chr17:42903947	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Glycogen storage disease Hypoglycemia Short stature Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA256177	rs_1801175	27 SubmittersRCV000012778 RCV000360229 RCV000626623 RCV000424594 RCV003987317
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	SNV Germline	Chr17:42911235	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256178	rs_104894563	9 SubmittersRCV000012779 RCV000725438
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)	SNV Germline	Chr17:42911391	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided Glycogen storage disease G6PC1-related disorder not specified	Criteria Provided Multiple Submitters No Conflicts	CA256179	rs_80356487	17 SubmittersRCV000012780 RCV000199372 RCV001027894 RCV003398491 RCV004018616
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)	SNV Germline	Chr17:42901105	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA256181	rs_104894566	5 SubmittersRCV000012781
NM_000151.4(G6PC1):c.230+4A>G	SNV Germline	Chr17:42901110	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	No Assertion Criteria Provided	CA256182	rs_587776757	1 SubmittersRCV000012782
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	SNV Germline	Chr17:42911000	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA256183	rs_80356484	14 SubmittersRCV000723833 RCV000012783
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	SNV Germline	Chr17:42900989	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256185	rs_104894565	9 SubmittersRCV000012784 RCV000507730 RCV002243637
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	SNV Germline	Chr17:42904028	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA256186	rs_104894567	5 SubmittersRCV000012785
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	SNV Germline	Chr17:42907552	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA256187	rs_104894568	4 SubmittersRCV000012786
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu)	SNV Germline	Chr17:42909407	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	No Assertion Criteria Provided	CA256188	rs_104894569	1 SubmittersRCV000012787
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)	SNV Germline	Chr17:42909418	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256190	rs_80356482	13 SubmittersRCV000012788 RCV001723560
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)	SNV Germline	Chr17:42903948	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA341566	rs_1801176	8 SubmittersRCV000020132
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly)	SNV Germline	Chr17:42909353	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter	CA256192	rs_104894571	2 SubmittersRCV000012790
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)	SNV Germline	Chr17:42911076	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA341567	rs_80356485	8 SubmittersRCV000239641
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)	SNV Germline	Chr17:42911161	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341569	rs_80356483	10 SubmittersRCV000239699 RCV001551101
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn)	SNV Germline	Chr17:42911374	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter	CA256191	rs_387906505	2 SubmittersRCV000012789
NM_000151.4(G6PC1):c.750G>A (p.Trp250Ter)	SNV Germline	Chr17:42911102	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_140869027	1 SubmittersRCV002237505
NM_000151.4(G6PC1):c.-45G>A	SNV Germline	Chr17:42900832	Conflicting classifications of pathogenicity	not specified Glycogen storage disease due to glucose-6-phosphatase deficiency type IA G6PC1-related disorder	Criteria Provided Conflicting Classifications	CA290968	rs_367816430	4 SubmittersRCV000125159 RCV000359277 RCV003952654
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)	SNV Germline	Chr17:42901065	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA274195	rs_764920787	4 SubmittersRCV000169341
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)	SNV Germline	Chr17:42911321	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273945	rs_780226142	7 SubmittersRCV000169104 RCV000726277
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)	SNV Germline	Chr17:42911364	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA274168	rs_367727229	6 SubmittersRCV000169319
NM_000151.4(G6PC1):c.230+1G>C	SNV Germline	Chr17:42901107	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_863224023	3 SubmittersRCV000673964
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	SNV Germline	Chr17:42909418	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA321440	rs_80356482	11 SubmittersRCV000197003 RCV000587142
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)	SNV Germline	Chr17:42911017	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications	CA324756	rs_515726229	4 SubmittersRCV000200195 RCV001271888
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)	SNV Germline	Chr17:42911046	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications	CA321017	rs_145172999	7 SubmittersRCV000196591 RCV000727223 RCV001085003
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)	SNV Germline	Chr17:42911262	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA not specified	Criteria Provided Conflicting Classifications	CA321240	rs_768385469	7 SubmittersRCV000196826 RCV001240860 RCV004020398
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr)	SNV Germline	Chr17:42911317	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications	CA324941	rs_863224022	3 SubmittersRCV000200377 RCV000667794
NM_000151.4(G6PC1):c.340+10C>A	SNV Germline	Chr17:42904050	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Glycogen storage disease, type I	Criteria Provided Conflicting Classifications	CA8587541	rs_368450665	8 SubmittersRCV000371551 RCV000725686 RCV001082635 RCV001274703
NM_000151.4(G6PC1):c.562+10G>A	SNV Germline	Chr17:42909428	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA G6PC1-related disorder	Criteria Provided Conflicting Classifications	CA8587609	rs_199505156	5 SubmittersRCV000379778 RCV000726276 RCV001080035 RCV003930160
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)	SNV Germline	Chr17:42911345	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications	CA8587693	rs_369238258	2 SubmittersRCV000372616
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)	SNV Germline	Chr17:42904026	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10649309	rs_886052955	3 SubmittersRCV000270253 RCV001267229
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)	SNV Germline	Chr17:42900955	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA16041840	rs_1057516367	2 SubmittersRCV000410536
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)	SNV Germline	Chr17:42901037	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA16041843	rs_1057517008	4 SubmittersRCV000411603
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val)	SNV Unknown	Chr17:42909407	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter	CA16043527	rs_104894569	1 SubmittersRCV000415061
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)	SNV Germline	Chr17:42911345	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA G6PC1-related disorder	Criteria Provided Conflicting Classifications	CA8587692	rs_369238258	3 SubmittersRCV000556983 RCV003952893
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)	SNV Germline	Chr17:42903958	Pathogenic	Condition: not provided Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts	CA290785345	rs_142917638	3 SubmittersRCV000595590 RCV000984266
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)	SNV Germline	Chr17:42911261	Conflicting classifications of pathogenicity	not specified Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided G6PC1-related disorder	Criteria Provided Conflicting Classifications	CA8587672	rs_368282218	7 SubmittersRCV000604888 RCV000886997 RCV003424187 RCV003945547
NM_000151.4(G6PC1):c.231-4A>G	SNV Germline	Chr17:42903927	Conflicting classifications of pathogenicity	not specified Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications	CA626069896	rs_1200297208	2 SubmittersRCV000609093 RCV002233010
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)	SNV Germline	Chr17:42909364	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8587596	rs_373345919	10 SubmittersRCV000624988 RCV001701123
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter)	SNV Germline	Chr17:42903955	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter	CA399653186	rs_748363083	2 SubmittersRCV000654361
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	SNV Germline	Chr9:130480419	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia Glycogen storage disease due to glucose-6-phosphatase deficiency type IA See cases	Criteria Provided Conflicting Classifications		rs_775163147	5 SubmittersRCV000673280 RCV002221574 RCV004544933 RCV004584400
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter)	SNV Unknown	Chr17:42907563	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1555559741	1 SubmittersRCV000668679
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)	SNV Germline	Chr17:42900890	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_1250172816	5 SubmittersRCV000671160
NM_000151.4(G6PC1):c.447G>A (p.Arg149=)	SNV Germline	Chr17:42909303	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA not specified	Criteria Provided Conflicting Classifications		rs_549712764	3 SubmittersRCV000674563 RCV004026136
NM_000151.4(G6PC1):c.447-1G>A	SNV Unknown	Chr17:42909302	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1411037881	1 SubmittersRCV000668544
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)	SNV Germline	Chr17:42909353	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_104894571	3 SubmittersRCV000672716
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)	SNV Germline	Chr17:42911026	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_1555560128	2 SubmittersRCV000665404
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)	SNV Germline	Chr17:42909416	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1485038937	2 SubmittersRCV000669345
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)	SNV Germline	Chr17:42911144	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_1555560149	2 SubmittersRCV000670966
NM_000151.4(G6PC1):c.231-1G>A	SNV Germline	Chr17:42903930	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1555559279	4 SubmittersRCV000664578
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)	SNV Germline	Chr17:42909323	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1189630738	4 SubmittersRCV000673256
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)	SNV Germline	Chr17:42909372	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1555559991	3 SubmittersRCV000674590
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)	SNV Germline	Chr17:42910998	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_749665480	2 SubmittersRCV000670714
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter)	SNV Unknown	Chr17:42911083	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1555560140	1 SubmittersRCV000666482
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter)	SNV Unknown	Chr17:42911059	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1457925404	1 SubmittersRCV000668900
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)	SNV Germline	Chr17:42911316	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1567706564	2 SubmittersRCV000689235
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile)	SNV Germline	Chr17:42904023	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1597988331	1 SubmittersRCV000807151
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro)	SNV Germline	Chr17:42909374	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_775826449	1 SubmittersRCV000793922
NM_000151.4(G6PC1):c.446+2T>C	SNV Germline	Chr17:42907630	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1597989985	1 SubmittersRCV000791731
NM_000151.4(G6PC1):c.446+1G>C	SNV Germline	Chr17:42907629	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1597989983	1 SubmittersRCV000813189
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)	SNV Germline	Chr17:42911344	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_149486847	3 SubmittersRCV000898064
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)	SNV Germline	Chr17:42911408	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_779263877	2 SubmittersRCV000901044
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)	SNV Germline	Chr17:42911231	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA not specified	Criteria Provided Conflicting Classifications		rs_529957748	4 SubmittersRCV000914849 RCV004029376
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)	SNV Germline	Chr17:42900894	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_144652516	2 SubmittersRCV000978800
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr)	SNV Unknown	Chr17:42909382	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1597990906	1 SubmittersRCV000989856
NM_000151.4(G6PC1):c.563-3C>G	SNV Germline	Chr17:42910912	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1597991608	2 SubmittersRCV000989857
NM_000151.4(G6PC1):c.770C>A (p.Pro257His)	SNV Unknown	Chr17:42911122	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1597991733	1 SubmittersRCV000989858
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)	SNV Germline	Chr17:42901085	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1567702823	5 SubmittersRCV001004605
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg)	SNV Germline	Chr17:42903941	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_756632286	1 SubmittersRCV001004606
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter)	SNV Germline	Chr17:42909394	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1597990921	1 SubmittersRCV001004607
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)	SNV Germline	Chr17:42901104	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2056023296	3 SubmittersRCV001060511 RCV001268621
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)	SNV Germline	Chr17:42907538	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1401928680	1 SubmittersRCV001070041
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)	SNV Germline	Chr17:42907566	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_764401169	2 SubmittersRCV001044200
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)	SNV Germline	Chr17:42910978	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_2056091436	1 SubmittersRCV001049851
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter)	SNV Germline	Chr17:42911403	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_766448695	1 SubmittersRCV001089502
NM_000151.4(G6PC1):c.230+11T>C	SNV Germline	Chr17:42901117	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_756151664	2 SubmittersRCV001124473
NM_000151.4(G6PC1):c.231-12G>A	SNV Germline	Chr17:42903919	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_373908549	2 SubmittersRCV001124474
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)	SNV Germline	Chr17:42909335	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_2056081522	2 SubmittersRCV001193577
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)	SNV Germline	Chr17:42909365	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA G6PC1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_750470654	6 SubmittersRCV001194214 RCV003396803
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)	SNV Germline	Chr17:42904010	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_2056043532	4 SubmittersRCV001219477
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)	SNV Germline	Chr17:42911058	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_2056092151	3 SubmittersRCV001223619
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)	SNV Germline	Chr17:42911173	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_774212157	1 SubmittersRCV001225198
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)	SNV Germline	Chr17:42911359	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_2056095097	1 SubmittersRCV001215828
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)	SNV Germline	Chr17:42911016	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1410392732	3 SubmittersRCV001235195
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)	SNV Germline	Chr17:80112003	Pathogenic	Glycogen storage disease, type II Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1221156663	6 SubmittersRCV001261625 RCV001283827 RCV001702092
NM_000151.4(G6PC1):c.355C>G (p.His119Asp)	SNV Germline	Chr17:42907537	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1332616844	1 SubmittersRCV001293638
NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter)	SNV Germline	Chr17:42909324	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_2056081389	1 SubmittersRCV001293639
NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter)	SNV Germline	Chr17:42909406	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_2056082144	1 SubmittersRCV001293645
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)	SNV Germline	Chr17:42900935	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_2056021410	2 SubmittersRCV001332225
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)	SNV Germline	Chr17:42911144	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1555560149	2 SubmittersRCV001379867
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)	SNV Germline	Chr17:42907547	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_759982943	2 SubmittersRCV001390823
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)	SNV Germline	Chr17:42911060	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_2151932291	1 SubmittersRCV001387201
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)	SNV Germline	Chr17:42901096	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA not specified	Criteria Provided Conflicting Classifications		rs_751959283	2 SubmittersRCV001401061 RCV004037818
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)	SNV Germline	Chr17:42911160	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1272803483	2 SubmittersRCV001582383
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)	SNV Germline	Chr17:42911116	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA G6PC1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2056092654	4 SubmittersRCV001810537 RCV003401731
NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter)	SNV Germline	Chr17:42900930	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1414234636	1 SubmittersRCV002237075
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)	SNV Germline	Chr17:42901078	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_1567702819	2 SubmittersRCV002237083
NM_000151.4(G6PC1):c.352G>A (p.Gly118Ser)	SNV Germline	Chr17:42907534	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_761007323	1 SubmittersRCV002237489
NM_000151.4(G6PC1):c.356A>G (p.His119Arg)	SNV Germline	Chr17:42907538	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA not specified	Criteria Provided Conflicting Classifications		rs_1401928680	2 SubmittersRCV002237490 RCV003403738
NM_000151.4(G6PC1):c.365G>T (p.Gly122Val)	SNV Germline	Chr17:42907547	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_759982943	1 SubmittersRCV002239890
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)	SNV Germline	Chr17:42909356	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Conflicting Classifications		rs_777552825	3 SubmittersRCV002237500
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)	SNV Germline	Chr17:42909362	Pathogenic/Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Multiple Submitters No Conflicts		rs_2056081719	2 SubmittersRCV002237501
NM_000151.4(G6PC1):c.532C>T (p.Pro178Ser)	SNV Germline	Chr17:42909388	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_763543607	1 SubmittersRCV002237502
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu)	SNV Germline	Chr17:42909389	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_768803329	1 SubmittersRCV002237503
NM_000151.4(G6PC1):c.793C>G (p.Leu265Val)	SNV Germline	Chr17:42911145	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_140224951	3 SubmittersRCV002237507 RCV003482401 RCV004045117
NM_000151.4(G6PC1):c.820G>A (p.Ala274Thr)	SNV Germline	Chr17:42911172	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_764084156	1 SubmittersRCV002239900
NM_000151.4(G6PC1):c.884G>A (p.Arg295His)	SNV Germline	Chr17:42911236	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_375212414	1 SubmittersRCV002237510
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr)	SNV Germline	Chr17:42907537	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_1332616844	1 SubmittersRCV002249046
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter)	SNV Germline	Chr17:42900946	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter		rs_2151929089	1 SubmittersRCV002249997
NM_000151.4(G6PC1):c.238T>A (p.Phe80Ile)	SNV Germline	Chr17:42903938	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003064447
NM_000151.4(G6PC1):c.279C>A (p.Tyr93Ter)	SNV Germline	Chr17:42903979	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003050474
NM_000151.4(G6PC1):c.239T>C (p.Phe80Ser)	SNV Germline	Chr17:42903939	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003092710
NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)	SNV Germline	Chr17:42911318	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV002781305
NM_000151.4(G6PC1):c.480G>A (p.Trp160Ter)	SNV Germline	Chr17:42909336	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV002797070
NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)	SNV Germline	Chr17:42900891	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV002863633
NM_000151.4(G6PC1):c.809G>A (p.Gly270Asp)	SNV Germline	Chr17:42911161	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV002907903
NM_000151.4(G6PC1):c.970G>A (p.Val324Ile)	SNV Germline	Chr17:42911322	Conflicting classifications of pathogenicity	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV002908298 RCV004066088
NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)	SNV Germline	Chr17:42900891	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV002941983
NM_000151.4(G6PC1):c.362T>C (p.Met121Thr)	SNV Germline	Chr17:42907544	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV002996421
NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)	SNV Germline	Chr17:42900890	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003057769
NM_000151.4(G6PC1):c.132C>G (p.Tyr44Ter)	SNV Germline	Chr17:42901008	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003065867
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)	SNV Germline	Chr17:42903947	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003330449
NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)	SNV Germline	Chr17:42904005	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003444045
NM_000151.4(G6PC1):c.325T>C (p.Cys109Arg)	SNV Germline	Chr17:42904025	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003513257
NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)	SNV Germline	Chr17:42911316	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003513205
NM_000151.4(G6PC1):c.261G>A (p.Trp87Ter)	SNV Germline	Chr17:42903961	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003511693
NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)	SNV Germline	Chr17:42900891	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003511906
NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)	SNV Germline	Chr17:42911087	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003625223
NM_000151.4(G6PC1):c.447-1G>C	SNV Germline	Chr17:42909302	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003624855
NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)	SNV Germline	Chr17:42900945	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003625355
NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)	SNV Germline	Chr17:42911058	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003625379
NM_000151.4(G6PC1):c.231G>A (p.Trp77Ter)	SNV Germline	Chr17:42903931	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003625995
NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)	SNV Germline	Chr17:42911116	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003834505
NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)	SNV Germline	Chr17:42911084	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003832498
NM_000151.4(G6PC1):c.230+1G>T	SNV Germline	Chr17:42901107	Pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003852330
NM_000151.4(G6PC1):c.352G>C (p.Gly118Arg)	SNV Germline	Chr17:42907534	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Criteria Provided Single Submitter			1 SubmittersRCV003993588

NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)

SNV
Germline

Chr17:42903947

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease
Hypoglycemia
Short stature
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA256177

rs_1801175

27 SubmittersRCV000012778 RCV000360229 RCV000626623 RCV000424594 RCV003987317

NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)

SNV
Germline

Chr17:42911235

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256178

rs_104894563

9 SubmittersRCV000012779 RCV000725438

NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr17:42911391

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided
Glycogen storage disease
G6PC1-related disorder
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA256179

rs_80356487

17 SubmittersRCV000012780 RCV000199372 RCV001027894 RCV003398491 RCV004018616

NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)

SNV
Germline

Chr17:42901105

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA256181

rs_104894566

5 SubmittersRCV000012781

NM_000151.4(G6PC1):c.230+4A>G

SNV
Germline

Chr17:42901110

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

No Assertion Criteria Provided

CA256182

rs_587776757

1 SubmittersRCV000012782

NM_000151.4(G6PC1):c.648G>T (p.Leu216=)

SNV
Germline

Chr17:42911000

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA256183

rs_80356484

14 SubmittersRCV000723833 RCV000012783

NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)

SNV
Germline

Chr17:42900989

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256185

rs_104894565

9 SubmittersRCV000012784 RCV000507730 RCV002243637

NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)

SNV
Germline

Chr17:42904028

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA256186

rs_104894567

5 SubmittersRCV000012785

NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)

SNV
Germline

Chr17:42907552

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA256187

rs_104894568

4 SubmittersRCV000012786

NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu)

SNV
Germline

Chr17:42909407

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

No Assertion Criteria Provided

CA256188

rs_104894569

1 SubmittersRCV000012787

NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)

SNV
Germline

Chr17:42909418

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256190

rs_80356482

13 SubmittersRCV000012788 RCV001723560

NM_000151.4(G6PC1):c.248G>A (p.Arg83His)

SNV
Germline

Chr17:42903948

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA341566

rs_1801176

8 SubmittersRCV000020132

NM_000151.4(G6PC1):c.497T>G (p.Val166Gly)

SNV
Germline

Chr17:42909353

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

CA256192

rs_104894571

2 SubmittersRCV000012790

NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)

SNV
Germline

Chr17:42911076

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA341567

rs_80356485

8 SubmittersRCV000239641

NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)

SNV
Germline

Chr17:42911161

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341569

rs_80356483

10 SubmittersRCV000239699 RCV001551101

NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn)

SNV
Germline

Chr17:42911374

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

CA256191

rs_387906505

2 SubmittersRCV000012789

NM_000151.4(G6PC1):c.750G>A (p.Trp250Ter)

SNV
Germline

Chr17:42911102

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_140869027

1 SubmittersRCV002237505

NM_000151.4(G6PC1):c.-45G>A

SNV
Germline

Chr17:42900832

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
G6PC1-related disorder

Criteria Provided
Conflicting Classifications

CA290968

rs_367816430

4 SubmittersRCV000125159 RCV000359277 RCV003952654

NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)

SNV
Germline

Chr17:42901065

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA274195

rs_764920787

4 SubmittersRCV000169341

NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)

SNV
Germline

Chr17:42911321

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273945

rs_780226142

7 SubmittersRCV000169104 RCV000726277

NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)

SNV
Germline

Chr17:42911364

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA274168

rs_367727229

6 SubmittersRCV000169319

NM_000151.4(G6PC1):c.230+1G>C

SNV
Germline

Chr17:42901107

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_863224023

3 SubmittersRCV000673964

NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)

SNV
Germline

Chr17:42909418

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA321440

rs_80356482

11 SubmittersRCV000197003 RCV000587142

NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)

SNV
Germline

Chr17:42911017

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

CA324756

rs_515726229

4 SubmittersRCV000200195 RCV001271888

NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)

SNV
Germline

Chr17:42911046

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

CA321017

rs_145172999

7 SubmittersRCV000196591 RCV000727223 RCV001085003

NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)

SNV
Germline

Chr17:42911262

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
not specified

Criteria Provided
Conflicting Classifications

CA321240

rs_768385469

7 SubmittersRCV000196826 RCV001240860 RCV004020398

NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr)

SNV
Germline

Chr17:42911317

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

CA324941

rs_863224022

3 SubmittersRCV000200377 RCV000667794

NM_000151.4(G6PC1):c.340+10C>A

SNV
Germline

Chr17:42904050

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease, type I

Criteria Provided
Conflicting Classifications

CA8587541

rs_368450665

8 SubmittersRCV000371551 RCV000725686 RCV001082635 RCV001274703

NM_000151.4(G6PC1):c.562+10G>A

SNV
Germline

Chr17:42909428

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
G6PC1-related disorder

Criteria Provided
Conflicting Classifications

CA8587609

rs_199505156

5 SubmittersRCV000379778 RCV000726276 RCV001080035 RCV003930160

NM_000151.4(G6PC1):c.993G>C (p.Ala331=)

SNV
Germline

Chr17:42911345

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

CA8587693

rs_369238258

2 SubmittersRCV000372616

NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)

SNV
Germline

Chr17:42904026

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10649309

rs_886052955

3 SubmittersRCV000270253 RCV001267229

NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)

SNV
Germline

Chr17:42900955

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA16041840

rs_1057516367

2 SubmittersRCV000410536

NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)

SNV
Germline

Chr17:42901037

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA16041843

rs_1057517008

4 SubmittersRCV000411603

NM_000151.4(G6PC1):c.551G>T (p.Gly184Val)

SNV
Unknown

Chr17:42909407

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

CA16043527

rs_104894569

1 SubmittersRCV000415061

NM_000151.4(G6PC1):c.993G>A (p.Ala331=)

SNV
Germline

Chr17:42911345

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
G6PC1-related disorder

Criteria Provided
Conflicting Classifications

CA8587692

rs_369238258

3 SubmittersRCV000556983 RCV003952893

NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)

SNV
Germline

Chr17:42903958

Pathogenic

Condition: not provided
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

CA290785345

rs_142917638

3 SubmittersRCV000595590 RCV000984266

NM_000151.4(G6PC1):c.909C>T (p.Leu303=)

SNV
Germline

Chr17:42911261

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided
G6PC1-related disorder

Criteria Provided
Conflicting Classifications

CA8587672

rs_368282218

7 SubmittersRCV000604888 RCV000886997 RCV003424187 RCV003945547

NM_000151.4(G6PC1):c.231-4A>G

SNV
Germline

Chr17:42903927

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

CA626069896

rs_1200297208

2 SubmittersRCV000609093 RCV002233010

NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)

SNV
Germline

Chr17:42909364

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8587596

rs_373345919

10 SubmittersRCV000624988 RCV001701123

NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter)

SNV
Germline

Chr17:42903955

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

CA399653186

rs_748363083

2 SubmittersRCV000654361

NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)

SNV
Germline

Chr9:130480419

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
See cases

Criteria Provided
Conflicting Classifications

rs_775163147

5 SubmittersRCV000673280 RCV002221574 RCV004544933 RCV004584400

NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter)

SNV
Unknown

Chr17:42907563

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1555559741

1 SubmittersRCV000668679

NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)

SNV
Germline

Chr17:42900890

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_1250172816

5 SubmittersRCV000671160

NM_000151.4(G6PC1):c.447G>A (p.Arg149=)

SNV
Germline

Chr17:42909303

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
not specified

Criteria Provided
Conflicting Classifications

rs_549712764

3 SubmittersRCV000674563 RCV004026136

NM_000151.4(G6PC1):c.447-1G>A

SNV
Unknown

Chr17:42909302

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1411037881

1 SubmittersRCV000668544

NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)

SNV
Germline

Chr17:42909353

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_104894571

3 SubmittersRCV000672716

NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)

SNV
Germline

Chr17:42911026

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_1555560128

2 SubmittersRCV000665404

NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)

SNV
Germline

Chr17:42909416

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1485038937

2 SubmittersRCV000669345

NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)

SNV
Germline

Chr17:42911144

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_1555560149

2 SubmittersRCV000670966

NM_000151.4(G6PC1):c.231-1G>A

SNV
Germline

Chr17:42903930

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555559279

4 SubmittersRCV000664578

NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)

SNV
Germline

Chr17:42909323

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1189630738

4 SubmittersRCV000673256

NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)

SNV
Germline

Chr17:42909372

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555559991

3 SubmittersRCV000674590

NM_000151.4(G6PC1):c.646C>T (p.Leu216=)

SNV
Germline

Chr17:42910998

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_749665480

2 SubmittersRCV000670714

NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter)

SNV
Unknown

Chr17:42911083

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1555560140

1 SubmittersRCV000666482

NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter)

SNV
Unknown

Chr17:42911059

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1457925404

1 SubmittersRCV000668900

NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)

SNV
Germline

Chr17:42911316

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1567706564

2 SubmittersRCV000689235

NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile)

SNV
Germline

Chr17:42904023

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1597988331

1 SubmittersRCV000807151

NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro)

SNV
Germline

Chr17:42909374

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_775826449

1 SubmittersRCV000793922

NM_000151.4(G6PC1):c.446+2T>C

SNV
Germline

Chr17:42907630

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1597989985

1 SubmittersRCV000791731

NM_000151.4(G6PC1):c.446+1G>C

SNV
Germline

Chr17:42907629

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1597989983

1 SubmittersRCV000813189

NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)

SNV
Germline

Chr17:42911344

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_149486847

3 SubmittersRCV000898064

NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)

SNV
Germline

Chr17:42911408

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_779263877

2 SubmittersRCV000901044

NM_000151.4(G6PC1):c.879A>G (p.Pro293=)

SNV
Germline

Chr17:42911231

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
not specified

Criteria Provided
Conflicting Classifications

rs_529957748

4 SubmittersRCV000914849 RCV004029376

NM_000151.4(G6PC1):c.18T>C (p.Asn6=)

SNV
Germline

Chr17:42900894

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_144652516

2 SubmittersRCV000978800

NM_000151.4(G6PC1):c.526C>T (p.His176Tyr)

SNV
Unknown

Chr17:42909382

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1597990906

1 SubmittersRCV000989856

NM_000151.4(G6PC1):c.563-3C>G

SNV
Germline

Chr17:42910912

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597991608

2 SubmittersRCV000989857

NM_000151.4(G6PC1):c.770C>A (p.Pro257His)

SNV
Unknown

Chr17:42911122

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1597991733

1 SubmittersRCV000989858

NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)

SNV
Germline

Chr17:42901085

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567702823

5 SubmittersRCV001004605

NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg)

SNV
Germline

Chr17:42903941

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_756632286

1 SubmittersRCV001004606

NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter)

SNV
Germline

Chr17:42909394

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1597990921

1 SubmittersRCV001004607

NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)

SNV
Germline

Chr17:42901104

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2056023296

3 SubmittersRCV001060511 RCV001268621

NM_000151.4(G6PC1):c.356A>T (p.His119Leu)

SNV
Germline

Chr17:42907538

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1401928680

1 SubmittersRCV001070041

NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)

SNV
Germline

Chr17:42907566

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_764401169

2 SubmittersRCV001044200

NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)

SNV
Germline

Chr17:42910978

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_2056091436

1 SubmittersRCV001049851

NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter)

SNV
Germline

Chr17:42911403

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_766448695

1 SubmittersRCV001089502

NM_000151.4(G6PC1):c.230+11T>C

SNV
Germline

Chr17:42901117

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_756151664

2 SubmittersRCV001124473

NM_000151.4(G6PC1):c.231-12G>A

SNV
Germline

Chr17:42903919

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_373908549

2 SubmittersRCV001124474

NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)

SNV
Germline

Chr17:42909335

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_2056081522

2 SubmittersRCV001193577

NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)

SNV
Germline

Chr17:42909365

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
G6PC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_750470654

6 SubmittersRCV001194214 RCV003396803

NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)

SNV
Germline

Chr17:42904010

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_2056043532

4 SubmittersRCV001219477

NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)

SNV
Germline

Chr17:42911058

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_2056092151

3 SubmittersRCV001223619

NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)

SNV
Germline

Chr17:42911173

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_774212157

1 SubmittersRCV001225198

NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)

SNV
Germline

Chr17:42911359

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_2056095097

1 SubmittersRCV001215828

NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)

SNV
Germline

Chr17:42911016

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1410392732

3 SubmittersRCV001235195

NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)

SNV
Germline

Chr17:80112003

Pathogenic

Glycogen storage disease, type II
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1221156663

6 SubmittersRCV001261625 RCV001283827 RCV001702092

NM_000151.4(G6PC1):c.355C>G (p.His119Asp)

SNV
Germline

Chr17:42907537

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1332616844

1 SubmittersRCV001293638

NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter)

SNV
Germline

Chr17:42909324

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_2056081389

1 SubmittersRCV001293639

NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter)

SNV
Germline

Chr17:42909406

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_2056082144

1 SubmittersRCV001293645

NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)

SNV
Germline

Chr17:42900935

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_2056021410

2 SubmittersRCV001332225

NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)

SNV
Germline

Chr17:42911144

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555560149

2 SubmittersRCV001379867

NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)

SNV
Germline

Chr17:42907547

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_759982943

2 SubmittersRCV001390823

NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)

SNV
Germline

Chr17:42911060

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_2151932291

1 SubmittersRCV001387201

NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)

SNV
Germline

Chr17:42901096

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
not specified

Criteria Provided
Conflicting Classifications

rs_751959283

2 SubmittersRCV001401061 RCV004037818

NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)

SNV
Germline

Chr17:42911160

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1272803483

2 SubmittersRCV001582383

NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)

SNV
Germline

Chr17:42911116

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
G6PC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2056092654

4 SubmittersRCV001810537 RCV003401731

NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter)

SNV
Germline

Chr17:42900930

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1414234636

1 SubmittersRCV002237075

NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)

SNV
Germline

Chr17:42901078

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567702819

2 SubmittersRCV002237083

NM_000151.4(G6PC1):c.352G>A (p.Gly118Ser)

SNV
Germline

Chr17:42907534

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_761007323

1 SubmittersRCV002237489

NM_000151.4(G6PC1):c.356A>G (p.His119Arg)

SNV
Germline

Chr17:42907538

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
not specified

Criteria Provided
Conflicting Classifications

rs_1401928680

2 SubmittersRCV002237490 RCV003403738

NM_000151.4(G6PC1):c.365G>T (p.Gly122Val)

SNV
Germline

Chr17:42907547

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_759982943

1 SubmittersRCV002239890

NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)

SNV
Germline

Chr17:42909356

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Conflicting Classifications

rs_777552825

3 SubmittersRCV002237500

NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)

SNV
Germline

Chr17:42909362

Pathogenic/Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Multiple Submitters
No Conflicts

rs_2056081719

2 SubmittersRCV002237501

NM_000151.4(G6PC1):c.532C>T (p.Pro178Ser)

SNV
Germline

Chr17:42909388

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_763543607

1 SubmittersRCV002237502

NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu)

SNV
Germline

Chr17:42909389

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_768803329

1 SubmittersRCV002237503

NM_000151.4(G6PC1):c.793C>G (p.Leu265Val)

SNV
Germline

Chr17:42911145

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_140224951

3 SubmittersRCV002237507 RCV003482401 RCV004045117

NM_000151.4(G6PC1):c.820G>A (p.Ala274Thr)

SNV
Germline

Chr17:42911172

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_764084156

1 SubmittersRCV002239900

NM_000151.4(G6PC1):c.884G>A (p.Arg295His)

SNV
Germline

Chr17:42911236

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_375212414

1 SubmittersRCV002237510

NM_000151.4(G6PC1):c.355C>T (p.His119Tyr)

SNV
Germline

Chr17:42907537

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_1332616844

1 SubmittersRCV002249046

NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr17:42900946

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

rs_2151929089

1 SubmittersRCV002249997

NM_000151.4(G6PC1):c.238T>A (p.Phe80Ile)

SNV
Germline

Chr17:42903938

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003064447

NM_000151.4(G6PC1):c.279C>A (p.Tyr93Ter)

SNV
Germline

Chr17:42903979

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003050474

NM_000151.4(G6PC1):c.239T>C (p.Phe80Ser)

SNV
Germline

Chr17:42903939

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003092710

NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)

SNV
Germline

Chr17:42911318

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002781305

NM_000151.4(G6PC1):c.480G>A (p.Trp160Ter)

SNV
Germline

Chr17:42909336

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002797070

NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)

SNV
Germline

Chr17:42900891

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002863633

NM_000151.4(G6PC1):c.809G>A (p.Gly270Asp)

SNV
Germline

Chr17:42911161

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002907903

NM_000151.4(G6PC1):c.970G>A (p.Val324Ile)

SNV
Germline

Chr17:42911322

Conflicting classifications of pathogenicity

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002908298 RCV004066088

NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)

SNV
Germline

Chr17:42900891

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002941983

NM_000151.4(G6PC1):c.362T>C (p.Met121Thr)

SNV
Germline

Chr17:42907544

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV002996421

NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)

SNV
Germline

Chr17:42900890

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003057769

NM_000151.4(G6PC1):c.132C>G (p.Tyr44Ter)

SNV
Germline

Chr17:42901008

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003065867

NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)

SNV
Germline

Chr17:42903947

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003330449

NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)

SNV
Germline

Chr17:42904005

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003444045

NM_000151.4(G6PC1):c.325T>C (p.Cys109Arg)

SNV
Germline

Chr17:42904025

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003513257

NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)

SNV
Germline

Chr17:42911316

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003513205

NM_000151.4(G6PC1):c.261G>A (p.Trp87Ter)

SNV
Germline

Chr17:42903961

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003511693

NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)

SNV
Germline

Chr17:42900891

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003511906

NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)

SNV
Germline

Chr17:42911087

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003625223

NM_000151.4(G6PC1):c.447-1G>C

SNV
Germline

Chr17:42909302

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003624855

NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)

SNV
Germline

Chr17:42900945

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003625355

NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)

SNV
Germline

Chr17:42911058

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003625379

NM_000151.4(G6PC1):c.231G>A (p.Trp77Ter)

SNV
Germline

Chr17:42903931

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003625995

NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)

SNV
Germline

Chr17:42911116

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003834505

NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)

SNV
Germline

Chr17:42911084

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003832498

NM_000151.4(G6PC1):c.230+1G>T

SNV
Germline

Chr17:42901107

Pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003852330

NM_000151.4(G6PC1):c.352G>C (p.Gly118Arg)

SNV
Germline

Chr17:42907534

Likely pathogenic

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Criteria Provided
Single Submitter

1 SubmittersRCV003993588