Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000158.4(GBE1):c.783-1G>A	SNV Germline	Chr3:81642991	Likely pathogenic	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA115742	rs_397515342	2 SubmittersRCV000002906 RCV003764518
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	SNV Germline	Chr3:81642787	Pathogenic	Glycogen storage disease IV, nonprogressive hepatic Glycogen storage disease, type IV GBE1-related disorder Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body neuropathy Adult polyglucosan body disease Glycogen storage disease, type IV Condition: not provided Adult polyglucosan body disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115743	rs_80338671	20 SubmittersRCV000002907 RCV000020163 RCV000304728 RCV000555363 RCV000150105 RCV000763520 RCV000493505 RCV000991160 RCV005572265
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	SNV Germline	Chr3:81648876	Pathogenic/Likely pathogenic	Glycogen storage disease IV, nonprogressive hepatic Adult polyglucosan body neuropathy Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease	Criteria Provided Multiple Submitters No Conflicts	CA115745	rs_137852886	7 SubmittersRCV000002909 RCV000210781 RCV000056134 RCV001050904 RCV005024995
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)	SNV Germline	Chr3:81578000	Pathogenic/Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Inborn genetic diseases Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Multiple Submitters No Conflicts	CA115747	rs_80338672	8 SubmittersRCV000002910 RCV000020161 RCV000210646 RCV001246690
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)	SNV Germline	Chr3:81646403	Conflicting classifications of pathogenicity	Glycogen storage disease IV, classic hepatic Condition: not provided Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease not specified	Criteria Provided Conflicting Classifications	CA115749	rs_137852887	8 SubmittersRCV000002912 RCV000433912 RCV000056143 RCV001851594 RCV005024996 RCV004689405
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	SNV Germline	Chr3:81577973	Pathogenic/Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease, type IV Condition: not provided Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA115751	rs_137852888	12 SubmittersRCV000002913 RCV000002914 RCV000056093 RCV000490013 RCV001052971 RCV002490300
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)	SNV Germline	Chr3:81577972	Pathogenic/Likely pathogenic	Glycogen storage disease IV, combined hepatic and myopathic Glycogen storage disease, type IV Adult polyglucosan body neuropathy Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Multiple Submitters No Conflicts	CA115753	rs_80338673	6 SubmittersRCV000002915 RCV000020162 RCV000150107 RCV001043400
NM_000158.4(GBE1):c.143+1G>A	SNV Germline	Chr3:81761374	Pathogenic	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Multiple Submitters No Conflicts	CA115755	rs_397515343	4 SubmittersRCV000002918 RCV000056092 RCV001851595
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)	SNV Germline	Chr3:81537080	Likely pathogenic	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA115756	rs_137852889	3 SubmittersRCV000002919 RCV000056095 RCV003764519
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter)	SNV Germline	Chr3:81536940	Pathogenic	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease, type IV	No Assertion Criteria Provided	CA115758	rs_137852890	2 SubmittersRCV000002920 RCV000056097
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	SNV Germline	Chr3:81535246	Pathogenic/Likely pathogenic	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease, type IV Condition: not provided Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA115760	rs_137852891	9 SubmittersRCV000002922 RCV000056098 RCV001092351 RCV001851596 RCV005024997
NM_000158.4(GBE1):c.708G>C (p.Gln236His)	SNV Germline	Chr3:81646466	Pathogenic/Likely pathogenic	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Condition: not provided Adult polyglucosan body disease Glycogen storage disease, type IV GBE1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115762	rs_137852892	10 SubmittersRCV000002924 RCV001580444 RCV001851597 RCV002254901 RCV005024998 RCV004532277
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)	SNV Germline	Chr3:81642989	Conflicting classifications of pathogenicity	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Adult polyglucosan body disease Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA115764	rs_137852893	5 SubmittersRCV000002925 RCV000501317 RCV002512687 RCV001826408
NM_000158.4(GBE1):c.691+5G>C	SNV Germline	Chr3:81648851	Likely pathogenic	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA115766	rs_397515344	5 SubmittersRCV000002926 RCV000056135 RCV002512688
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)	SNV Germline	Chr3:81537071	Pathogenic	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA115767	rs_137852894	3 SubmittersRCV000002927 RCV000056096
NM_000152.5(GAA):c.-32-13T>G	SNV Germline	Chr17:80104542	Pathogenic	GLYCOGEN STORAGE DISEASE II, ADULT FORM Glycogen storage disease, type II Condition: not provided Myopathy Glycogen storage disease due to acid maltase deficiency, late-onset Cardiovascular phenotype Glycogen storage disease, type IV GAA-related disorder See cases	Reviewed By Expert Panel	CA116606	rs_386834236	58 SubmittersRCV000004242 RCV000055770 RCV000153285 RCV000626740 RCV002225068 RCV002321471 RCV002288463 RCV003415646 RCV004797752
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	SNV Germline	Chr3:81577999	Pathogenic/Likely pathogenic	Adult polyglucosan body neuropathy Condition: not provided Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV Adult polyglucosan body disease See cases GBE1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA185932	rs_201958741	12 SubmittersRCV000157612 RCV000519980 RCV000692455 RCV001275349 RCV001826858 RCV002252009 RCV004535028
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg)	SNV Germline	Chr3:81705587	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA241296	rs_544821452	3 SubmittersRCV000175535 RCV001469389 RCV004020080
NM_000158.4(GBE1):c.691+2T>C	SNV Germline	Chr3:81648854	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Condition: not provided Glycogen storage disease, type IV Adult polyglucosan body disease GBE1-related disorder Glycogen storage disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Arthrogryposis syndrome Dementia Adult polyglucosan body disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA276004	rs_192044702	32 SubmittersRCV000190589 RCV000224184 RCV000660553 RCV000368399 RCV001449661 RCV000706641 RCV005621909 RCV005625419 RCV003388833 RCV004020302
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)	SNV Germline	Chr3:81578022	Conflicting classifications of pathogenicity	not specified Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease Condition: not provided Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA207609	rs_372821643	9 SubmittersRCV000193851 RCV000973898 RCV001146945 RCV001699060 RCV001146946
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)	SNV Germline	Chr3:81593952	Pathogenic/Likely pathogenic	Inborn genetic diseases Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA358066	rs_869312919	5 SubmittersRCV000210600 RCV002515586 RCV001828050
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu)	SNV Germline	Chr3:81670921	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2499996	rs_377305989	5 SubmittersRCV000224885 RCV001034188 RCV004975336
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter)	SNV Germline	Chr3:81535220	Pathogenic/Likely pathogenic	GBE1-related disorder Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Multiple Submitters No Conflicts	CA2499528	rs_766935302	5 SubmittersRCV000303766 RCV001275347 RCV000808547
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)	SNV Germline	Chr3:81577939	Pathogenic/Likely pathogenic	GBE1-related disorder Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA10616731	rs_886058900	5 SubmittersRCV000329434 RCV001850838 RCV001828341 RCV005033881
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)	SNV Germline	Chr3:81577962	Conflicting classifications of pathogenicity	Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic GBE1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2499619	rs_140571802	4 SubmittersRCV000294270 RCV000386331 RCV001478610 RCV004530400 RCV004584691
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)	SNV Germline	Chr3:81581205	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2499676	rs_760661724	4 SubmittersRCV000278997 RCV000336211 RCV000941062 RCV004021930
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)	SNV Germline	Chr3:81581219	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Adult polyglucosan body disease Condition: not provided Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Conflicting Classifications	CA2499681	rs_563241317	4 SubmittersRCV000301163 RCV000400318 RCV001570231 RCV000966414
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)	SNV Germline	Chr3:81499127	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Condition: not provided	Criteria Provided Conflicting Classifications	CA2499484	rs_202158511	7 SubmittersRCV000297840 RCV000357256 RCV000966281 RCV001354590
NM_000158.4(GBE1):c.1237-15C>T	SNV Germline	Chr3:81586205	Conflicting classifications of pathogenicity	Adult polyglucosan body disease not specified Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Conflicting Classifications	CA2499733	rs_376809475	3 SubmittersRCV000339774 RCV000616457 RCV000408225 RCV002061237
NM_000158.4(GBE1):c.721A>G (p.Met241Val)	SNV Germline	Chr3:81646453	Conflicting classifications of pathogenicity	Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic GBE1-related disorder Arthrogryposis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2499874	rs_747155575	7 SubmittersRCV000272591 RCV000329970 RCV002523458 RCV004530401 RCV005621936 RCV005620359
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	SNV Germline	Chr3:81642787	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease Condition: not provided not specified GBE1-related disorder Glycogen storage disease, type IV Adult polyglucosan body disease	Criteria Provided Conflicting Classifications	CA2499826	rs_80338671	20 SubmittersRCV000529291 RCV000410814 RCV001145097 RCV000490240 RCV001172459 RCV004732865 RCV005033920
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	SNV Germline	Chr3:81646414	Conflicting classifications of pathogenicity	Condition: not provided Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499872	rs_770427750	13 SubmittersRCV000416121 RCV001147052 RCV001245740 RCV005027476 RCV001147053
NM_000158.4(GBE1):c.313+15G>A	SNV Germline	Chr3:81705429	Conflicting classifications of pathogenicity	not specified Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2500016	rs_184391304	3 SubmittersRCV000444093 RCV001145197 RCV001145198 RCV002522605
NM_000158.4(GBE1):c.143+6G>A	SNV Germline	Chr3:81761369	Conflicting classifications of pathogenicity	not specified Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV GBE1-related disorder	Criteria Provided Conflicting Classifications	CA2500078	rs_371048718	3 SubmittersRCV000443544 RCV002522627 RCV004533119
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	SNV Germline	Chr3:81537021	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Adult polyglucosan body disease Glycogen storage disease, type IV not specified Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Conflicting Classifications	CA2499591	rs_552094593	7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV003330722 RCV002528222
NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe)	SNV Germline	Chr20:427395	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Polyglucosan body myopathy type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA407934305	rs_1555787599	2 SubmittersRCV000590988 RCV005222972
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)	SNV Germline	Chr3:81670852	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353688843	rs_1553690406	3 SubmittersRCV000500431 RCV005034043
NM_000158.4(GBE1):c.785G>A (p.Arg262His)	SNV Germline	Chr3:81642988	Conflicting classifications of pathogenicity	Adult polyglucosan body disease Glycogen storage disease, type IV Condition: not provided not specified Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Conflicting Classifications	CA2499857	rs_369574719	10 SubmittersRCV000502833 RCV000674419 RCV001770384 RCV002509416 RCV002524352
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)	SNV Germline	Chr3:81761503	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Adult polyglucosan body disease GBE1-related disorder Condition: not provided Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV not specified	Criteria Provided Conflicting Classifications	CA2500119	rs_62267114	10 SubmittersRCV000509180 RCV001149608 RCV004535645 RCV000513618 RCV000704354 RCV000764515 RCV003403196
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)	SNV Germline	Chr3:81577973	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA353684655	rs_137852888	2 SubmittersRCV000526226 RCV002483363
NM_000158.4(GBE1):c.993-1G>T	SNV Germline	Chr3:81594024	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Multiple Submitters No Conflicts	CA2499810	rs_763016962	3 SubmittersRCV000560920 RCV003767090
NM_000158.4(GBE1):c.45G>A (p.Glu15=)	SNV Germline	Chr3:81761473	Conflicting classifications of pathogenicity	not specified Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV Condition: not provided	Criteria Provided Conflicting Classifications	CA2500107	rs_370326965	5 SubmittersRCV000611635 RCV000892880 RCV001148054 RCV001148055 RCV003431149
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)	SNV Germline	Chr3:81594018	Pathogenic/Likely pathogenic	Inborn genetic diseases Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353685960	rs_1553684545	5 SubmittersRCV000624791 RCV000723295
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)	SNV Germline	Chr3:81578051	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Condition: not provided Adult polyglucosan body disease Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Dementia GBE1-related disorder	Criteria Provided Conflicting Classifications	CA2499637	rs_201758548	19 SubmittersRCV000660623 RCV000728026 RCV000764514 RCV000779417 RCV001240088 RCV005626143 RCV004533452
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)	SNV Germline	Chr3:81490442	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV GBE1-related disorder See cases	Criteria Provided Conflicting Classifications	CA2499460	rs_192877602	5 SubmittersRCV000675502 RCV001085622 RCV001275618 RCV004544936 RCV002252209
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter)	SNV Germline	Chr3:81537034	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353686558	rs_1559637815	2 SubmittersRCV000680446
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg)	SNV Germline	Chr3:81642990	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353687585	rs_1559673607	1 SubmittersRCV000687227
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)	SNV Germline	Chr3:81535304	Conflicting classifications of pathogenicity	Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV not specified Condition: not provided GBE1-related disorder Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499542	rs_772802187	10 SubmittersRCV001144993 RCV000700490 RCV001144992 RCV002307601 RCV003144551 RCV004733007 RCV005027870
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)	SNV Germline	Chr3:81581167	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499665	rs_758786811	3 SubmittersRCV000734986 RCV001825486
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)	SNV Germline	Chr3:81535252	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV GBE1-related disorder Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499534	rs_185631651	6 SubmittersRCV000762123 RCV001301590 RCV001825509 RCV004540085 RCV002507334
NM_000158.4(GBE1):c.966G>A (p.Trp322Ter)	SNV Germline	Chr3:81642807	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353687187	rs_1559673456	1 SubmittersRCV001856173
NM_000158.4(GBE1):c.555+1G>T	SNV Germline	Chr3:81649795	Conflicting classifications of pathogenicity	GBE1-related disorder Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV Condition: not provided	Criteria Provided Conflicting Classifications	CA2499939	rs_759707498	7 SubmittersRCV000779419 RCV001377777 RCV001825518 RCV004792456
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)	SNV Germline	Chr3:81537059	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA2499598	rs_777589783	2 SubmittersRCV000794025 RCV001830700
NM_000158.4(GBE1):c.1803+2T>C	SNV Germline	Chr3:81536909	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA2499565	rs_539203557	6 SubmittersRCV002249502 RCV000792208 RCV001825542 RCV005029456
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)	SNV Germline	Chr3:81670917	Conflicting classifications of pathogenicity	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV Condition: not provided GBE1-related disorder	Criteria Provided Conflicting Classifications	CA2499995	rs_186942296	4 SubmittersRCV000909016 RCV001275862 RCV002225767 RCV004533480
NM_000158.4(GBE1):c.969T>C (p.Asp323=)	SNV Germline	Chr3:81642804	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499830	rs_555689284	3 SubmittersRCV000934171 RCV001145098 RCV001145099
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser)	SNV Unknown	Chr3:81646404	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353688015	rs_1576183537	1 SubmittersRCV000987294
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	SNV Germline	Chr3:81537093	Pathogenic/Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353686694	rs_1703086906	3 SubmittersRCV001052710 RCV002271616
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter)	SNV Germline	Chr3:81581225	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353685068	rs_1703726090	1 SubmittersRCV001035503
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)	SNV Germline	Chr3:81586127	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV GBE1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2499712	rs_781198373	4 SubmittersRCV001037666 RCV001827226 RCV004536067
NM_000158.4(GBE1):c.956A>G (p.His319Arg)	SNV Germline	Chr3:81642817	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353687211	rs_1490328834	2 SubmittersRCV001046133 RCV001827287
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)	SNV Germline	Chr3:81535287	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499539	rs_774354874	2 SubmittersRCV001144990 RCV001144991 RCV001436144
NM_000158.4(GBE1):c.692-6A>G	SNV Germline	Chr3:81646488	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499879	rs_757655010	2 SubmittersRCV001147054 RCV001147940 RCV002557151
NM_000158.4(GBE1):c.556-6C>T	SNV Germline	Chr3:81648997	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV GBE1-related disorder	Criteria Provided Conflicting Classifications	CA2499919	rs_754051144	3 SubmittersRCV001149484 RCV001149485 RCV001462204 RCV004545084
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)	SNV Germline	Chr3:81536926	Conflicting classifications of pathogenicity	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA78280342	rs_201029706	3 SubmittersRCV001224672 RCV001828791
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)	SNV Germline	Chr3:81670931	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353689016	rs_773473771	2 SubmittersRCV003462766 RCV001224752
NM_000158.4(GBE1):c.1618+1G>A	SNV Germline	Chr3:81577924	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA16602220	rs_1703670302	2 SubmittersRCV001218759 RCV003462743
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)	SNV Germline	Chr3:81591069	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2499766	rs_757297254	3 SubmittersRCV001277705 RCV001443953 RCV002537764
NM_000158.4(GBE1):c.1934+2T>A	SNV Germline	Chr3:81535193	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353685981	rs_752625236	1 SubmittersRCV003808596
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)	SNV Germline	Chr3:81490435	Pathogenic/Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Condition: not provided Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353686770	rs_1209123501	5 SubmittersRCV001361784 RCV003324829 RCV003462925 RCV005023087
NM_000158.4(GBE1):c.1804-2A>T	SNV Germline	Chr3:81535327	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV GBE1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA353686274	rs_1224090803	4 SubmittersRCV001378284 RCV001826137 RCV003317492
NM_000158.4(GBE1):c.1803+1G>A	SNV Germline	Chr3:81536910	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353686282	rs_1273791312	1 SubmittersRCV001378063
NM_000158.4(GBE1):c.992+2T>G	SNV Germline	Chr3:81642779	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA2499823	rs_772349876	3 SubmittersRCV001377889 RCV001826133
NM_000158.4(GBE1):c.143+2T>C	SNV Germline	Chr3:81761373	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353686835	rs_2107250439	3 SubmittersRCV001377854 RCV001826132
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)	SNV Germline	Chr3:81577982	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA2499627	rs_773775991	3 SubmittersRCV001390489 RCV001826185
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter)	SNV Germline	Chr3:81578064	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353684854	rs_1703673227	1 SubmittersRCV001381995
NM_000158.4(GBE1):c.1336-1G>A	SNV Germline	Chr3:81581276	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA2499688	rs_375253942	5 SubmittersRCV001381386 RCV001826157
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)	SNV Germline	Chr3:81642965	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353687537	rs_559653237	2 SubmittersRCV001381687 RCV001780306
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)	SNV Germline	Chr3:81642982	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499854	rs_754525424	4 SubmittersRCV001387200 RCV001826174
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter)	SNV Germline	Chr3:81761475	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353687037	rs_774709930	1 SubmittersRCV001389224
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)	SNV Germline	Chr3:81499198	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2499503	rs_377105672	2 SubmittersRCV001402358 RCV004037831
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)	SNV Germline	Chr3:81499202	Conflicting classifications of pathogenicity	Inborn genetic diseases Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Conflicting Classifications	CA2499504	rs_527789602	2 SubmittersRCV004038438 RCV001445769
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)	SNV Germline	Chr3:81578021	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Condition: not provided	Criteria Provided Conflicting Classifications	CA2499633	rs_200544679	2 SubmittersRCV001442706 RCV001557552
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)	SNV Germline	Chr3:81761427	Conflicting classifications of pathogenicity	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2500094	rs_539925873	2 SubmittersRCV001429233 RCV002555522
NM_000158.4(GBE1):c.476C>T (p.Pro159Leu)	SNV Germline	Chr3:81649875	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA353688693	rs_1559676007	2 SubmittersRCV001806321 RCV004040919
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)	SNV Germline	Chr3:81535304	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA2499543	rs_772802187	4 SubmittersRCV001829299 RCV005038349 RCV002545206
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)	SNV Germline	Chr3:81537020	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499590	rs_774619760	2 SubmittersRCV001829301
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)	SNV Germline	Chr3:81578059	Conflicting classifications of pathogenicity	Condition: not provided Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA353684841	rs_1456579860	4 SubmittersRCV003132541 RCV002489894 RCV001829302 RCV003772351
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)	SNV Germline	Chr3:81591044	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV not specified GBE1-related disorder	Criteria Provided Conflicting Classifications	CA2499758	rs_771405370	3 SubmittersRCV001829303 RCV003331213 RCV004529022
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)	SNV Germline	Chr3:81593953	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV not specified Arthrogryposis syndrome	Criteria Provided Conflicting Classifications	CA2499800	rs_780431086	4 SubmittersRCV001829304 RCV001885377 RCV003331214 RCV005626504
NM_000158.4(GBE1):c.955C>T (p.His319Tyr)	SNV Germline	Chr3:81642818	Conflicting classifications of pathogenicity	Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA2499832	rs_767100121	3 SubmittersRCV001829306 RCV001885378 RCV005432806
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)	SNV Germline	Chr3:81642878	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease	Criteria Provided Multiple Submitters No Conflicts	CA2499838	rs_779475367	4 SubmittersRCV001829308 RCV001869839 RCV003494573
NM_000158.4(GBE1):c.563A>C (p.His188Pro)	SNV Germline	Chr3:81648984	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA2499916	rs_773558446	2 SubmittersRCV001829309
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)	SNV Germline	Chr3:81705464	Conflicting classifications of pathogenicity	Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2500021	rs_775486403	5 SubmittersRCV001829310 RCV003333181 RCV002542782 RCV003481134 RCV004690142
NM_000158.4(GBE1):c.314-2A>G	SNV Germline	Chr3:81670955	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353689072	rs_2107114825	1 SubmittersRCV001998192
NM_000158.4(GBE1):c.42C>G (p.Tyr14Ter)	SNV Germline	Chr3:81761476	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353687039	rs_1328296506	1 SubmittersRCV001936975
NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter)	SNV Germline	Chr3:81586094	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353685208	rs_1703799803	1 SubmittersRCV001978972
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)	SNV Germline	Chr3:81670946	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353689051	rs_2107114808	3 SubmittersRCV001960590 RCV003471152 RCV005032000
NM_000158.4(GBE1):c.1109-1G>A	SNV Germline	Chr3:81591165	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353685698	rs_763258786	1 SubmittersRCV001996151
NM_000158.4(GBE1):c.1619-1G>A	SNV Germline	Chr3:81537096	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353686701	rs_2106872434	1 SubmittersRCV001996282
NM_000158.4(GBE1):c.2052+2T>C	SNV Germline	Chr3:81499108	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA2499481	rs_375596642	3 SubmittersRCV002042877 RCV003226524
NM_000158.4(GBE1):c.1031G>A (p.Trp344Ter)	SNV Germline	Chr3:81593985	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353685887	rs_773381709	1 SubmittersRCV001939621
NM_000158.4(GBE1):c.1935-1C>T	SNV Germline	Chr3:81499228	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353684537	rs_1475447884	2 SubmittersRCV002037316 RCV003470944
NM_000158.4(GBE1):c.1032G>A (p.Trp344Ter)	SNV Germline	Chr3:81593984	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353685885	rs_2106957076	1 SubmittersRCV001960656
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)	SNV Germline	Chr3:81649871	Pathogenic/Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV See cases Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA2499955	rs_776943352	3 SubmittersRCV001912126 RCV002252715 RCV003464198
NM_000158.4(GBE1):c.2052+1G>T	SNV Germline	Chr3:81499109	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353684280	rs_2106809795	3 SubmittersRCV002023786 RCV003464392 RCV005032119
NM_000158.4(GBE1):c.2052+1G>A	SNV Germline	Chr3:81499109	Pathogenic/Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353684281	rs_2106809795	2 SubmittersRCV002009938 RCV003471239
NM_000158.4(GBE1):c.1168T>A (p.Leu390Met)	SNV Germline	Chr3:81591105	Conflicting classifications of pathogenicity	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Condition: not provided	Criteria Provided Conflicting Classifications	CA2499770	rs_199821084	2 SubmittersRCV002191439 RCV004729102
NM_000158.4(GBE1):c.1496T>A (p.Met499Lys)	SNV Germline	Chr3:81578047	Likely pathogenic	Glycogen storage disease, type IV	No Assertion Criteria Provided	CA353684811	rs_1703672969	1 SubmittersRCV002281660
NM_000158.4(GBE1):c.1934+2T>C	SNV Germline	Chr3:81535193	Conflicting classifications of pathogenicity	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Conflicting Classifications	CA78280192	rs_752625236	3 SubmittersRCV002609232 RCV003465798
NM_000158.4(GBE1):c.556-1G>A	SNV Germline	Chr3:81648992	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353688504	rs_2471826563	1 SubmittersRCV002671798
NM_000158.4(GBE1):c.993-2A>G	SNV Germline	Chr3:81594025	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353685978	rs_1269375163	3 SubmittersRCV002700047 RCV003464586 RCV005025953
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)	SNV Germline	Chr3:81670838	Conflicting classifications of pathogenicity	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Condition: not provided	Criteria Provided Conflicting Classifications	CA2499980	rs_376374984	3 SubmittersRCV002701240 RCV003130747
NM_000158.4(GBE1):c.367G>T (p.Glu123Ter)	SNV Germline	Chr3:81670900	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353688943	rs_2471864436	1 SubmittersRCV002797325
NM_000158.4(GBE1):c.691+1G>T	SNV Germline	Chr3:81648855	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353688210	rs_2471826054	1 SubmittersRCV002820223
NM_000158.4(GBE1):c.169A>T (p.Lys57Ter)	SNV Germline	Chr3:81705588	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353687914	rs_772910188	1 SubmittersRCV002816218
NM_000158.4(GBE1):c.34G>T (p.Glu12Ter)	SNV Germline	Chr3:81761484	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353687058	rs_772401056	1 SubmittersRCV002881700
NM_000158.4(GBE1):c.692-1G>A	SNV Germline	Chr3:81646483	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353688203	rs_2471822543	1 SubmittersRCV002853478
NM_000158.4(GBE1):c.691+1G>A	SNV Germline	Chr3:81648855	Pathogenic/Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353688212	rs_2471826054	2 SubmittersRCV002866913 RCV004571397
NM_000158.4(GBE1):c.430-1G>C	SNV Germline	Chr3:81649922	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353688796	rs_2471828509	2 SubmittersRCV003012050 RCV003464651
NM_000158.4(GBE1):c.985T>C (p.Tyr329His)	SNV Germline	Chr3:81642788	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA2499827	rs_762781855	1 SubmittersRCV003048031
NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)	SNV Unknown	Chr3:81646420	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353688053	rs_2471822311	1 SubmittersRCV003468253
NM_000158.4(GBE1):c.1935-1C>A	SNV Unknown	Chr3:81499228	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353684539	rs_1475447884	1 SubmittersRCV003461662
NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)	SNV Germline	Chr3:81577931	Conflicting classifications of pathogenicity	Glycogen storage disease, type IV Condition: not provided	Criteria Provided Conflicting Classifications	CA353684568	rs_1319283898	2 SubmittersRCV003461663 RCV004721195
NM_000158.4(GBE1):c.1934+1A>G	SNV Unknown	Chr3:81535194	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA2499523	rs_774160163	1 SubmittersRCV003461666
NM_000158.4(GBE1):c.556-2A>G	SNV Unknown	Chr3:81648993	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353688507	rs_2471826564	1 SubmittersRCV003461667
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)	SNV Germline	Chr3:81642919	Likely pathogenic	Glycogen storage disease, type IV Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353687438	rs_1704706313	2 SubmittersRCV003461670 RCV005030040
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)	SNV Unknown	Chr3:81581247	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353685121	rs_2471727330	1 SubmittersRCV003468255
NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)	SNV Unknown	Chr3:81586151	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353685331	rs_1703800535	1 SubmittersRCV003468258
NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)	SNV Unknown	Chr3:81646421	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353688056	rs_1704763968	1 SubmittersRCV003461673
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)	SNV Unknown	Chr3:81581246	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353685116	rs_2106938620	1 SubmittersRCV003468259
NM_000158.4(GBE1):c.1109-2A>G	SNV Germline	Chr3:81591166	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353685701	rs_2471740325	1 SubmittersRCV003785402
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)	SNV Germline	Chr3:81537034	Pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Condition: not provided Glycogen storage disease, type IV Adult polyglucosan body disease	Criteria Provided Multiple Submitters No Conflicts	CA353686557	rs_1559637815	3 SubmittersRCV003781839 RCV005363254 RCV005030267
NM_000158.4(GBE1):c.1236+1G>A	SNV Germline	Chr3:81591036	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353685423	rs_1199237900	1 SubmittersRCV003781008
NM_000158.4(GBE1):c.144-1G>C	SNV Germline	Chr3:81705614	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Multiple Submitters No Conflicts	CA353687981	rs_1705762883	2 SubmittersRCV003781337 RCV004573309
NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)	SNV Germline	Chr3:81593982	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353685879	rs_1248821695	1 SubmittersRCV003795487
NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)	SNV Germline	Chr3:81537092	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353686691	rs_2471675648	1 SubmittersRCV003780444
NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)	SNV Germline	Chr3:81578000	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353684713	rs_80338672	1 SubmittersRCV003787415
NM_000158.4(GBE1):c.314-1G>C	SNV Germline	Chr3:81670954	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353689069	rs_2471864589	1 SubmittersRCV003792142
NM_000158.4(GBE1):c.955C>G (p.His319Asp)	SNV Germline	Chr3:81642818	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353687212	rs_767100121	1 SubmittersRCV003807948
NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)	SNV Germline	Chr3:81642990	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353687586	rs_1559673607	1 SubmittersRCV003803927
NM_000158.4(GBE1):c.1108+2T>C	SNV Germline	Chr3:81593906	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353685705	rs_1183285612	1 SubmittersRCV003804308
NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)	SNV Germline	Chr3:81642983	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353687574	rs_1300268316	1 SubmittersRCV003798622
NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)	SNV Germline	Chr3:81648899	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353688307	rs_1295929595	1 SubmittersRCV003802770
NM_000158.4(GBE1):c.136C>T (p.Gln46Ter)	SNV Germline	Chr3:81761382	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA2500081	rs_758286394	1 SubmittersRCV003798743
NM_000158.4(GBE1):c.1935-2A>G	SNV Germline	Chr3:81499229	Likely pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353684541	rs_2471633372	1 SubmittersRCV003795159
NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)	SNV Germline	Chr3:81577938	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353684586	rs_2471722766	1 SubmittersRCV003808940
NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)	SNV Germline	Chr3:81642982	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Single Submitter	CA353687571	rs_754525424	1 SubmittersRCV003804766
NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)	SNV Germline	Chr3:81642962	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter	CA353687530	rs_2471817112	1 SubmittersRCV003809432
NM_000158.4(GBE1):c.1666A>T (p.Asn556Tyr)	SNV Germline	Chr3:81537048	Likely pathogenic	Glycogen storage disease, type IV Glycogen storage disease, type IV Adult polyglucosan body disease	Criteria Provided Multiple Submitters No Conflicts	CA78280349	rs_937683680	2 SubmittersRCV004527218 RCV005038704
NM_000158.4(GBE1):c.992+1G>T	SNV Unknown	Chr3:81642780	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter		rs_1295205981	1 SubmittersRCV004576675
NM_000158.4(GBE1):c.1109-1G>T	SNV Unknown	Chr3:81591165	Likely pathogenic	Glycogen storage disease, type IV	Criteria Provided Single Submitter		rs_763258786	1 SubmittersRCV004576676
NM_000158.4(GBE1):c.1782T>A (p.Tyr594Ter)	SNV Germline	Chr3:81536932	Likely pathogenic	Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Single Submitter			1 SubmittersRCV005037218
NM_000158.4(GBE1):c.1771G>T (p.Glu591Ter)	SNV Germline	Chr3:81536943	Likely pathogenic	Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Single Submitter			1 SubmittersRCV005024884
NM_000158.4(GBE1):c.1244C>G (p.Ser415Ter)	SNV Germline	Chr3:81586183	Likely pathogenic	Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Single Submitter			1 SubmittersRCV005037219
NM_000158.4(GBE1):c.995G>A (p.Trp332Ter)	SNV Germline	Chr3:81594021	Likely pathogenic	Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Single Submitter			1 SubmittersRCV005024886
NM_000158.4(GBE1):c.429+1G>T	SNV Germline	Chr3:81670837	Likely pathogenic	Adult polyglucosan body disease Glycogen storage disease, type IV	Criteria Provided Single Submitter			1 SubmittersRCV005024889
NM_000158.4(GBE1):c.706C>T (p.Gln236Ter)	SNV Germline	Chr3:81646468	Pathogenic	Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV	Criteria Provided Single Submitter			1 SubmittersRCV005217302
NM_000158.4(GBE1):c.728A>G (p.His243Arg)	SNV Germline	Chr3:81646446	Likely pathogenic	Glycogen storage disease, type IV	No Assertion Criteria Provided			1 SubmittersRCV005614041
NM_000158.4(GBE1):c.1006A>T (p.Arg336Ter)	SNV Germline	Chr3:81594010	Likely pathogenic	Glycogen storage disease, type IV	No Assertion Criteria Provided			1 SubmittersRCV005614047
NM_000158.4(GBE1):c.1618+2T>C	SNV Germline	Chr3:81577923	Pathogenic	Glycogen storage disease, type IV	No Assertion Criteria Provided			1 SubmittersRCV005615891

SNV
Germline

Chr3:81642991

Likely pathogenic

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA115742

rs_397515342

2 SubmittersRCV000002906 RCV003764518

NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)

SNV
Germline

Chr3:81642787

Pathogenic

Glycogen storage disease IV, nonprogressive hepatic
Glycogen storage disease, type IV
GBE1-related disorder
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body neuropathy
Adult polyglucosan body disease
Glycogen storage disease, type IV
Condition: not provided
Adult polyglucosan body disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA115743

rs_80338671

20 SubmittersRCV000002907 RCV000020163 RCV000304728 RCV000555363 RCV000150105 RCV000763520 RCV000493505 RCV000991160 RCV005572265

NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)

SNV
Germline

Chr3:81648876

Pathogenic/Likely pathogenic

Glycogen storage disease IV, nonprogressive hepatic
Adult polyglucosan body neuropathy
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease

Criteria Provided
Multiple Submitters
No Conflicts

CA115745

rs_137852886

7 SubmittersRCV000002909 RCV000210781 RCV000056134 RCV001050904 RCV005024995

NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)

SNV
Germline

Chr3:81578000

Pathogenic/Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Inborn genetic diseases
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Multiple Submitters
No Conflicts

CA115747

rs_80338672

8 SubmittersRCV000002910 RCV000020161 RCV000210646 RCV001246690

NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)

SNV
Germline

Chr3:81646403

Conflicting classifications of pathogenicity

Glycogen storage disease IV, classic hepatic
Condition: not provided
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
not specified

Criteria Provided
Conflicting Classifications

CA115749

rs_137852887

8 SubmittersRCV000002912 RCV000433912 RCV000056143 RCV001851594 RCV005024996 RCV004689405

NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)

SNV
Germline

Chr3:81577973

Pathogenic/Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease, type IV
Condition: not provided
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA115751

rs_137852888

12 SubmittersRCV000002913 RCV000002914 RCV000056093 RCV000490013 RCV001052971 RCV002490300

NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)

SNV
Germline

Chr3:81577972

Pathogenic/Likely pathogenic

Glycogen storage disease IV, combined hepatic and myopathic
Glycogen storage disease, type IV
Adult polyglucosan body neuropathy
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Multiple Submitters
No Conflicts

CA115753

rs_80338673

6 SubmittersRCV000002915 RCV000020162 RCV000150107 RCV001043400

NM_000158.4(GBE1):c.143+1G>A

SNV
Germline

Chr3:81761374

Pathogenic

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Multiple Submitters
No Conflicts

CA115755

rs_397515343

4 SubmittersRCV000002918 RCV000056092 RCV001851595

NM_000158.4(GBE1):c.1634A>G (p.His545Arg)

SNV
Germline

Chr3:81537080

Likely pathogenic

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA115756

rs_137852889

3 SubmittersRCV000002919 RCV000056095 RCV003764519

NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter)

SNV
Germline

Chr3:81536940

Pathogenic

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease, type IV

No Assertion Criteria Provided

CA115758

rs_137852890

2 SubmittersRCV000002920 RCV000056097

NM_000158.4(GBE1):c.1883A>G (p.His628Arg)

SNV
Germline

Chr3:81535246

Pathogenic/Likely pathogenic

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease, type IV
Condition: not provided
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA115760

rs_137852891

9 SubmittersRCV000002922 RCV000056098 RCV001092351 RCV001851596 RCV005024997

NM_000158.4(GBE1):c.708G>C (p.Gln236His)

SNV
Germline

Chr3:81646466

Pathogenic/Likely pathogenic

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Condition: not provided
Adult polyglucosan body disease
Glycogen storage disease, type IV
GBE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115762

rs_137852892

10 SubmittersRCV000002924 RCV001580444 RCV001851597 RCV002254901 RCV005024998 RCV004532277

NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)

SNV
Germline

Chr3:81642989

Conflicting classifications of pathogenicity

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Adult polyglucosan body disease
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA115764

rs_137852893

5 SubmittersRCV000002925 RCV000501317 RCV002512687 RCV001826408

NM_000158.4(GBE1):c.691+5G>C

SNV
Germline

Chr3:81648851

Likely pathogenic

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA115766

rs_397515344

5 SubmittersRCV000002926 RCV000056135 RCV002512688

NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)

SNV
Germline

Chr3:81537071

Pathogenic

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA115767

rs_137852894

3 SubmittersRCV000002927 RCV000056096

NM_000152.5(GAA):c.-32-13T>G

SNV
Germline

Chr17:80104542

Pathogenic

GLYCOGEN STORAGE DISEASE II, ADULT FORM
Glycogen storage disease, type II
Condition: not provided
Myopathy
Glycogen storage disease due to acid maltase deficiency, late-onset
Cardiovascular phenotype
Glycogen storage disease, type IV
GAA-related disorder
See cases

Reviewed By Expert Panel

CA116606

rs_386834236

58 SubmittersRCV000004242 RCV000055770 RCV000153285 RCV000626740 RCV002225068 RCV002321471 RCV002288463 RCV003415646 RCV004797752

NM_000158.4(GBE1):c.1544G>A (p.Arg515His)

SNV
Germline

Chr3:81577999

Pathogenic/Likely pathogenic

Adult polyglucosan body neuropathy
Condition: not provided
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Adult polyglucosan body disease
See cases
GBE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA185932

rs_201958741

12 SubmittersRCV000157612 RCV000519980 RCV000692455 RCV001275349 RCV001826858 RCV002252009 RCV004535028

NM_000158.4(GBE1):c.170A>G (p.Lys57Arg)

SNV
Germline

Chr3:81705587

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA241296

rs_544821452

3 SubmittersRCV000175535 RCV001469389 RCV004020080

NM_000158.4(GBE1):c.691+2T>C

SNV
Germline

Chr3:81648854

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Condition: not provided
Glycogen storage disease, type IV
Adult polyglucosan body disease
GBE1-related disorder
Glycogen storage disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Arthrogryposis syndrome
Dementia
Adult polyglucosan body disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA276004

rs_192044702

32 SubmittersRCV000190589 RCV000224184 RCV000660553 RCV000368399 RCV001449661 RCV000706641 RCV005621909 RCV005625419 RCV003388833 RCV004020302

NM_000158.4(GBE1):c.1521T>C (p.Thr507=)

SNV
Germline

Chr3:81578022

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Condition: not provided
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA207609

rs_372821643

9 SubmittersRCV000193851 RCV000973898 RCV001146945 RCV001699060 RCV001146946

NM_000158.4(GBE1):c.1064G>A (p.Arg355His)

SNV
Germline

Chr3:81593952

Pathogenic/Likely pathogenic

Inborn genetic diseases
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA358066

rs_869312919

5 SubmittersRCV000210600 RCV002515586 RCV001828050

NM_000158.4(GBE1):c.346A>G (p.Lys116Glu)

SNV
Germline

Chr3:81670921

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2499996

rs_377305989

5 SubmittersRCV000224885 RCV001034188 RCV004975336

NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter)

SNV
Germline

Chr3:81535220

Pathogenic/Likely pathogenic

GBE1-related disorder
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Multiple Submitters
No Conflicts

CA2499528

rs_766935302

5 SubmittersRCV000303766 RCV001275347 RCV000808547

NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)

SNV
Germline

Chr3:81577939

Pathogenic/Likely pathogenic

GBE1-related disorder
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA10616731

rs_886058900

5 SubmittersRCV000329434 RCV001850838 RCV001828341 RCV005033881

NM_000158.4(GBE1):c.1581G>A (p.Thr527=)

SNV
Germline

Chr3:81577962

Conflicting classifications of pathogenicity

Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
GBE1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499619

rs_140571802

4 SubmittersRCV000294270 RCV000386331 RCV001478610 RCV004530400 RCV004584691

NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)

SNV
Germline

Chr3:81581205

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2499676

rs_760661724

4 SubmittersRCV000278997 RCV000336211 RCV000941062 RCV004021930

NM_000158.4(GBE1):c.1392C>T (p.Leu464=)

SNV
Germline

Chr3:81581219

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Adult polyglucosan body disease
Condition: not provided
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Conflicting Classifications

CA2499681

rs_563241317

4 SubmittersRCV000301163 RCV000400318 RCV001570231 RCV000966414

NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)

SNV
Germline

Chr3:81499127

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499484

rs_202158511

7 SubmittersRCV000297840 RCV000357256 RCV000966281 RCV001354590

NM_000158.4(GBE1):c.1237-15C>T

SNV
Germline

Chr3:81586205

Conflicting classifications of pathogenicity

Adult polyglucosan body disease
not specified
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Conflicting Classifications

CA2499733

rs_376809475

3 SubmittersRCV000339774 RCV000616457 RCV000408225 RCV002061237

NM_000158.4(GBE1):c.721A>G (p.Met241Val)

SNV
Germline

Chr3:81646453

Conflicting classifications of pathogenicity

Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
GBE1-related disorder
Arthrogryposis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499874

rs_747155575

7 SubmittersRCV000272591 RCV000329970 RCV002523458 RCV004530401 RCV005621936 RCV005620359

NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)

SNV
Germline

Chr3:81642787

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Condition: not provided
not specified
GBE1-related disorder
Glycogen storage disease, type IV
Adult polyglucosan body disease

Criteria Provided
Conflicting Classifications

CA2499826

rs_80338671

20 SubmittersRCV000529291 RCV000410814 RCV001145097 RCV000490240 RCV001172459 RCV004732865 RCV005033920

NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)

SNV
Germline

Chr3:81646414

Conflicting classifications of pathogenicity

Condition: not provided
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499872

rs_770427750

13 SubmittersRCV000416121 RCV001147052 RCV001245740 RCV005027476 RCV001147053

NM_000158.4(GBE1):c.313+15G>A

SNV
Germline

Chr3:81705429

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2500016

rs_184391304

3 SubmittersRCV000444093 RCV001145197 RCV001145198 RCV002522605

NM_000158.4(GBE1):c.143+6G>A

SNV
Germline

Chr3:81761369

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
GBE1-related disorder

Criteria Provided
Conflicting Classifications

CA2500078

rs_371048718

3 SubmittersRCV000443544 RCV002522627 RCV004533119

NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)

SNV
Germline

Chr3:81537021

Conflicting classifications of pathogenicity

Condition: not provided
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Adult polyglucosan body disease
Glycogen storage disease, type IV
not specified
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Conflicting Classifications

CA2499591

rs_552094593

7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV003330722 RCV002528222

NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe)

SNV
Germline

Chr20:427395

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Polyglucosan body myopathy type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA407934305

rs_1555787599

2 SubmittersRCV000590988 RCV005222972

NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)

SNV
Germline

Chr3:81670852

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353688843

rs_1553690406

3 SubmittersRCV000500431 RCV005034043

NM_000158.4(GBE1):c.785G>A (p.Arg262His)

SNV
Germline

Chr3:81642988

Conflicting classifications of pathogenicity

Adult polyglucosan body disease
Glycogen storage disease, type IV
Condition: not provided
not specified
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Conflicting Classifications

CA2499857

rs_369574719

10 SubmittersRCV000502833 RCV000674419 RCV001770384 RCV002509416 RCV002524352

NM_000158.4(GBE1):c.15G>A (p.Met5Ile)

SNV
Germline

Chr3:81761503

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Adult polyglucosan body disease
GBE1-related disorder
Condition: not provided
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV
not specified

Criteria Provided
Conflicting Classifications

CA2500119

rs_62267114

10 SubmittersRCV000509180 RCV001149608 RCV004535645 RCV000513618 RCV000704354 RCV000764515 RCV003403196

NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)

SNV
Germline

Chr3:81577973

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA353684655

rs_137852888

2 SubmittersRCV000526226 RCV002483363

NM_000158.4(GBE1):c.993-1G>T

SNV
Germline

Chr3:81594024

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Multiple Submitters
No Conflicts

CA2499810

rs_763016962

3 SubmittersRCV000560920 RCV003767090

NM_000158.4(GBE1):c.45G>A (p.Glu15=)

SNV
Germline

Chr3:81761473

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2500107

rs_370326965

5 SubmittersRCV000611635 RCV000892880 RCV001148054 RCV001148055 RCV003431149

NM_000158.4(GBE1):c.998A>T (p.Glu333Val)

SNV
Germline

Chr3:81594018

Pathogenic/Likely pathogenic

Inborn genetic diseases
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353685960

rs_1553684545

5 SubmittersRCV000624791 RCV000723295

NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)

SNV
Germline

Chr3:81578051

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Condition: not provided
Adult polyglucosan body disease
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Dementia
GBE1-related disorder

Criteria Provided
Conflicting Classifications

CA2499637

rs_201758548

19 SubmittersRCV000660623 RCV000728026 RCV000764514 RCV000779417 RCV001240088 RCV005626143 RCV004533452

NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)

SNV
Germline

Chr3:81490442

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
GBE1-related disorder
See cases

Criteria Provided
Conflicting Classifications

CA2499460

rs_192877602

5 SubmittersRCV000675502 RCV001085622 RCV001275618 RCV004544936 RCV002252209

NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter)

SNV
Germline

Chr3:81537034

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353686558

rs_1559637815

2 SubmittersRCV000680446

NM_000158.4(GBE1):c.783C>G (p.Ser261Arg)

SNV
Germline

Chr3:81642990

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353687585

rs_1559673607

1 SubmittersRCV000687227

NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)

SNV
Germline

Chr3:81535304

Conflicting classifications of pathogenicity

Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
not specified
Condition: not provided
GBE1-related disorder
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499542

rs_772802187

10 SubmittersRCV001144993 RCV000700490 RCV001144992 RCV002307601 RCV003144551 RCV004733007 RCV005027870

NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)

SNV
Germline

Chr3:81581167

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499665

rs_758786811

3 SubmittersRCV000734986 RCV001825486

NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)

SNV
Germline

Chr3:81535252

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
GBE1-related disorder
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499534

rs_185631651

6 SubmittersRCV000762123 RCV001301590 RCV001825509 RCV004540085 RCV002507334

NM_000158.4(GBE1):c.966G>A (p.Trp322Ter)

SNV
Germline

Chr3:81642807

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353687187

rs_1559673456

1 SubmittersRCV001856173

NM_000158.4(GBE1):c.555+1G>T

SNV
Germline

Chr3:81649795

Conflicting classifications of pathogenicity

GBE1-related disorder
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499939

rs_759707498

7 SubmittersRCV000779419 RCV001377777 RCV001825518 RCV004792456

NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)

SNV
Germline

Chr3:81537059

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA2499598

rs_777589783

2 SubmittersRCV000794025 RCV001830700

NM_000158.4(GBE1):c.1803+2T>C

SNV
Germline

Chr3:81536909

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA2499565

rs_539203557

6 SubmittersRCV002249502 RCV000792208 RCV001825542 RCV005029456

NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)

SNV
Germline

Chr3:81670917

Conflicting classifications of pathogenicity

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Condition: not provided
GBE1-related disorder

Criteria Provided
Conflicting Classifications

CA2499995

rs_186942296

4 SubmittersRCV000909016 RCV001275862 RCV002225767 RCV004533480

NM_000158.4(GBE1):c.969T>C (p.Asp323=)

SNV
Germline

Chr3:81642804

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499830

rs_555689284

3 SubmittersRCV000934171 RCV001145098 RCV001145099

NM_000158.4(GBE1):c.770T>C (p.Phe257Ser)

SNV
Unknown

Chr3:81646404

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353688015

rs_1576183537

1 SubmittersRCV000987294

NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)

SNV
Germline

Chr3:81537093

Pathogenic/Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353686694

rs_1703086906

3 SubmittersRCV001052710 RCV002271616

NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter)

SNV
Germline

Chr3:81581225

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353685068

rs_1703726090

1 SubmittersRCV001035503

NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)

SNV
Germline

Chr3:81586127

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
GBE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2499712

rs_781198373

4 SubmittersRCV001037666 RCV001827226 RCV004536067

NM_000158.4(GBE1):c.956A>G (p.His319Arg)

SNV
Germline

Chr3:81642817

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353687211

rs_1490328834

2 SubmittersRCV001046133 RCV001827287

NM_000158.4(GBE1):c.1842T>A (p.Ile614=)

SNV
Germline

Chr3:81535287

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499539

rs_774354874

2 SubmittersRCV001144990 RCV001144991 RCV001436144

NM_000158.4(GBE1):c.692-6A>G

SNV
Germline

Chr3:81646488

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499879

rs_757655010

2 SubmittersRCV001147054 RCV001147940 RCV002557151

NM_000158.4(GBE1):c.556-6C>T

SNV
Germline

Chr3:81648997

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
GBE1-related disorder

Criteria Provided
Conflicting Classifications

CA2499919

rs_754051144

3 SubmittersRCV001149484 RCV001149485 RCV001462204 RCV004545084

NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)

SNV
Germline

Chr3:81536926

Conflicting classifications of pathogenicity

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA78280342

rs_201029706

3 SubmittersRCV001224672 RCV001828791

NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)

SNV
Germline

Chr3:81670931

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353689016

rs_773473771

2 SubmittersRCV003462766 RCV001224752

NM_000158.4(GBE1):c.1618+1G>A

SNV
Germline

Chr3:81577924

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA16602220

rs_1703670302

2 SubmittersRCV001218759 RCV003462743

NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)

SNV
Germline

Chr3:81591069

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2499766

rs_757297254

3 SubmittersRCV001277705 RCV001443953 RCV002537764

NM_000158.4(GBE1):c.1934+2T>A

SNV
Germline

Chr3:81535193

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353685981

rs_752625236

1 SubmittersRCV003808596

NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)

SNV
Germline

Chr3:81490435

Pathogenic/Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Condition: not provided
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353686770

rs_1209123501

5 SubmittersRCV001361784 RCV003324829 RCV003462925 RCV005023087

NM_000158.4(GBE1):c.1804-2A>T

SNV
Germline

Chr3:81535327

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
GBE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353686274

rs_1224090803

4 SubmittersRCV001378284 RCV001826137 RCV003317492

NM_000158.4(GBE1):c.1803+1G>A

SNV
Germline

Chr3:81536910

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353686282

rs_1273791312

1 SubmittersRCV001378063

NM_000158.4(GBE1):c.992+2T>G

SNV
Germline

Chr3:81642779

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA2499823

rs_772349876

3 SubmittersRCV001377889 RCV001826133

NM_000158.4(GBE1):c.143+2T>C

SNV
Germline

Chr3:81761373

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353686835

rs_2107250439

3 SubmittersRCV001377854 RCV001826132

NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)

SNV
Germline

Chr3:81577982

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA2499627

rs_773775991

3 SubmittersRCV001390489 RCV001826185

NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter)

SNV
Germline

Chr3:81578064

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353684854

rs_1703673227

1 SubmittersRCV001381995

NM_000158.4(GBE1):c.1336-1G>A

SNV
Germline

Chr3:81581276

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA2499688

rs_375253942

5 SubmittersRCV001381386 RCV001826157

NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)

SNV
Germline

Chr3:81642965

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353687537

rs_559653237

2 SubmittersRCV001381687 RCV001780306

NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)

SNV
Germline

Chr3:81642982

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499854

rs_754525424

4 SubmittersRCV001387200 RCV001826174

NM_000158.4(GBE1):c.43G>T (p.Glu15Ter)

SNV
Germline

Chr3:81761475

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353687037

rs_774709930

1 SubmittersRCV001389224

NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)

SNV
Germline

Chr3:81499198

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2499503

rs_377105672

2 SubmittersRCV001402358 RCV004037831

NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)

SNV
Germline

Chr3:81499202

Conflicting classifications of pathogenicity

Inborn genetic diseases
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Conflicting Classifications

CA2499504

rs_527789602

2 SubmittersRCV004038438 RCV001445769

NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)

SNV
Germline

Chr3:81578021

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499633

rs_200544679

2 SubmittersRCV001442706 RCV001557552

NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)

SNV
Germline

Chr3:81761427

Conflicting classifications of pathogenicity

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2500094

rs_539925873

2 SubmittersRCV001429233 RCV002555522

NM_000158.4(GBE1):c.476C>T (p.Pro159Leu)

SNV
Germline

Chr3:81649875

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA353688693

rs_1559676007

2 SubmittersRCV001806321 RCV004040919

NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)

SNV
Germline

Chr3:81535304

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA2499543

rs_772802187

4 SubmittersRCV001829299 RCV005038349 RCV002545206

NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)

SNV
Germline

Chr3:81537020

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499590

rs_774619760

2 SubmittersRCV001829301

NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)

SNV
Germline

Chr3:81578059

Conflicting classifications of pathogenicity

Condition: not provided
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA353684841

rs_1456579860

4 SubmittersRCV003132541 RCV002489894 RCV001829302 RCV003772351

NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)

SNV
Germline

Chr3:81591044

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
not specified
GBE1-related disorder

Criteria Provided
Conflicting Classifications

CA2499758

rs_771405370

3 SubmittersRCV001829303 RCV003331213 RCV004529022

NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)

SNV
Germline

Chr3:81593953

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
not specified
Arthrogryposis syndrome

Criteria Provided
Conflicting Classifications

CA2499800

rs_780431086

4 SubmittersRCV001829304 RCV001885377 RCV003331214 RCV005626504

NM_000158.4(GBE1):c.955C>T (p.His319Tyr)

SNV
Germline

Chr3:81642818

Conflicting classifications of pathogenicity

Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA2499832

rs_767100121

3 SubmittersRCV001829306 RCV001885378 RCV005432806

NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)

SNV
Germline

Chr3:81642878

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease

Criteria Provided
Multiple Submitters
No Conflicts

CA2499838

rs_779475367

4 SubmittersRCV001829308 RCV001869839 RCV003494573

NM_000158.4(GBE1):c.563A>C (p.His188Pro)

SNV
Germline

Chr3:81648984

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA2499916

rs_773558446

2 SubmittersRCV001829309

NM_000158.4(GBE1):c.293T>G (p.Val98Gly)

SNV
Germline

Chr3:81705464

Conflicting classifications of pathogenicity

Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2500021

rs_775486403

5 SubmittersRCV001829310 RCV003333181 RCV002542782 RCV003481134 RCV004690142

NM_000158.4(GBE1):c.314-2A>G

SNV
Germline

Chr3:81670955

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353689072

rs_2107114825

1 SubmittersRCV001998192

NM_000158.4(GBE1):c.42C>G (p.Tyr14Ter)

SNV
Germline

Chr3:81761476

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353687039

rs_1328296506

1 SubmittersRCV001936975

NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter)

SNV
Germline

Chr3:81586094

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353685208

rs_1703799803

1 SubmittersRCV001978972

NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)

SNV
Germline

Chr3:81670946

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353689051

rs_2107114808

3 SubmittersRCV001960590 RCV003471152 RCV005032000

NM_000158.4(GBE1):c.1109-1G>A

SNV
Germline

Chr3:81591165

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353685698

rs_763258786

1 SubmittersRCV001996151

NM_000158.4(GBE1):c.1619-1G>A

SNV
Germline

Chr3:81537096

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353686701

rs_2106872434

1 SubmittersRCV001996282

NM_000158.4(GBE1):c.2052+2T>C

SNV
Germline

Chr3:81499108

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA2499481

rs_375596642

3 SubmittersRCV002042877 RCV003226524

NM_000158.4(GBE1):c.1031G>A (p.Trp344Ter)

SNV
Germline

Chr3:81593985

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353685887

rs_773381709

1 SubmittersRCV001939621

NM_000158.4(GBE1):c.1935-1C>T

SNV
Germline

Chr3:81499228

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353684537

rs_1475447884

2 SubmittersRCV002037316 RCV003470944

NM_000158.4(GBE1):c.1032G>A (p.Trp344Ter)

SNV
Germline

Chr3:81593984

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353685885

rs_2106957076

1 SubmittersRCV001960656

NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)

SNV
Germline

Chr3:81649871

Pathogenic/Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
See cases
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA2499955

rs_776943352

3 SubmittersRCV001912126 RCV002252715 RCV003464198

NM_000158.4(GBE1):c.2052+1G>T

SNV
Germline

Chr3:81499109

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353684280

rs_2106809795

3 SubmittersRCV002023786 RCV003464392 RCV005032119

NM_000158.4(GBE1):c.2052+1G>A

SNV
Germline

Chr3:81499109

Pathogenic/Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353684281

rs_2106809795

2 SubmittersRCV002009938 RCV003471239

NM_000158.4(GBE1):c.1168T>A (p.Leu390Met)

SNV
Germline

Chr3:81591105

Conflicting classifications of pathogenicity

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499770

rs_199821084

2 SubmittersRCV002191439 RCV004729102

NM_000158.4(GBE1):c.1496T>A (p.Met499Lys)

SNV
Germline

Chr3:81578047

Likely pathogenic

Glycogen storage disease, type IV

No Assertion Criteria Provided

CA353684811

rs_1703672969

1 SubmittersRCV002281660

NM_000158.4(GBE1):c.1934+2T>C

SNV
Germline

Chr3:81535193

Conflicting classifications of pathogenicity

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Conflicting Classifications

CA78280192

rs_752625236

3 SubmittersRCV002609232 RCV003465798

NM_000158.4(GBE1):c.556-1G>A

SNV
Germline

Chr3:81648992

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353688504

rs_2471826563

1 SubmittersRCV002671798

NM_000158.4(GBE1):c.993-2A>G

SNV
Germline

Chr3:81594025

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353685978

rs_1269375163

3 SubmittersRCV002700047 RCV003464586 RCV005025953

NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)

SNV
Germline

Chr3:81670838

Conflicting classifications of pathogenicity

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499980

rs_376374984

3 SubmittersRCV002701240 RCV003130747

NM_000158.4(GBE1):c.367G>T (p.Glu123Ter)

SNV
Germline

Chr3:81670900

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353688943

rs_2471864436

1 SubmittersRCV002797325

NM_000158.4(GBE1):c.691+1G>T

SNV
Germline

Chr3:81648855

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353688210

rs_2471826054

1 SubmittersRCV002820223

NM_000158.4(GBE1):c.169A>T (p.Lys57Ter)

SNV
Germline

Chr3:81705588

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353687914

rs_772910188

1 SubmittersRCV002816218

NM_000158.4(GBE1):c.34G>T (p.Glu12Ter)

SNV
Germline

Chr3:81761484

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353687058

rs_772401056

1 SubmittersRCV002881700

NM_000158.4(GBE1):c.692-1G>A

SNV
Germline

Chr3:81646483

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353688203

rs_2471822543

1 SubmittersRCV002853478

NM_000158.4(GBE1):c.691+1G>A

SNV
Germline

Chr3:81648855

Pathogenic/Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353688212

rs_2471826054

2 SubmittersRCV002866913 RCV004571397

NM_000158.4(GBE1):c.430-1G>C

SNV
Germline

Chr3:81649922

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353688796

rs_2471828509

2 SubmittersRCV003012050 RCV003464651

NM_000158.4(GBE1):c.985T>C (p.Tyr329His)

SNV
Germline

Chr3:81642788

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA2499827

rs_762781855

1 SubmittersRCV003048031

NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)

SNV
Unknown

Chr3:81646420

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353688053

rs_2471822311

1 SubmittersRCV003468253

NM_000158.4(GBE1):c.1935-1C>A

SNV
Unknown

Chr3:81499228

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353684539

rs_1475447884

1 SubmittersRCV003461662

NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)

SNV
Germline

Chr3:81577931

Conflicting classifications of pathogenicity

Glycogen storage disease, type IV
Condition: not provided

Criteria Provided
Conflicting Classifications

CA353684568

rs_1319283898

2 SubmittersRCV003461663 RCV004721195

NM_000158.4(GBE1):c.1934+1A>G

SNV
Unknown

Chr3:81535194

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA2499523

rs_774160163

1 SubmittersRCV003461666

NM_000158.4(GBE1):c.556-2A>G

SNV
Unknown

Chr3:81648993

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353688507

rs_2471826564

1 SubmittersRCV003461667

NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)

SNV
Germline

Chr3:81642919

Likely pathogenic

Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353687438

rs_1704706313

2 SubmittersRCV003461670 RCV005030040

NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)

SNV
Unknown

Chr3:81581247

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353685121

rs_2471727330

1 SubmittersRCV003468255

NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)

SNV
Unknown

Chr3:81586151

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353685331

rs_1703800535

1 SubmittersRCV003468258

NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)

SNV
Unknown

Chr3:81646421

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353688056

rs_1704763968

1 SubmittersRCV003461673

NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)

SNV
Unknown

Chr3:81581246

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353685116

rs_2106938620

1 SubmittersRCV003468259

NM_000158.4(GBE1):c.1109-2A>G

SNV
Germline

Chr3:81591166

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353685701

rs_2471740325

1 SubmittersRCV003785402

NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)

SNV
Germline

Chr3:81537034

Pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Condition: not provided
Glycogen storage disease, type IV
Adult polyglucosan body disease

Criteria Provided
Multiple Submitters
No Conflicts

CA353686557

rs_1559637815

3 SubmittersRCV003781839 RCV005363254 RCV005030267

NM_000158.4(GBE1):c.1236+1G>A

SNV
Germline

Chr3:81591036

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353685423

rs_1199237900

1 SubmittersRCV003781008

NM_000158.4(GBE1):c.144-1G>C

SNV
Germline

Chr3:81705614

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Multiple Submitters
No Conflicts

CA353687981

rs_1705762883

2 SubmittersRCV003781337 RCV004573309

NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)

SNV
Germline

Chr3:81593982

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353685879

rs_1248821695

1 SubmittersRCV003795487

NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)

SNV
Germline

Chr3:81537092

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353686691

rs_2471675648

1 SubmittersRCV003780444

NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)

SNV
Germline

Chr3:81578000

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353684713

rs_80338672

1 SubmittersRCV003787415

NM_000158.4(GBE1):c.314-1G>C

SNV
Germline

Chr3:81670954

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353689069

rs_2471864589

1 SubmittersRCV003792142

NM_000158.4(GBE1):c.955C>G (p.His319Asp)

SNV
Germline

Chr3:81642818

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353687212

rs_767100121

1 SubmittersRCV003807948

NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)

SNV
Germline

Chr3:81642990

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353687586

rs_1559673607

1 SubmittersRCV003803927

NM_000158.4(GBE1):c.1108+2T>C

SNV
Germline

Chr3:81593906

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353685705

rs_1183285612

1 SubmittersRCV003804308

NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)

SNV
Germline

Chr3:81642983

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353687574

rs_1300268316

1 SubmittersRCV003798622

NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)

SNV
Germline

Chr3:81648899

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353688307

rs_1295929595

1 SubmittersRCV003802770

NM_000158.4(GBE1):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr3:81761382

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA2500081

rs_758286394

1 SubmittersRCV003798743

NM_000158.4(GBE1):c.1935-2A>G

SNV
Germline

Chr3:81499229

Likely pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353684541

rs_2471633372

1 SubmittersRCV003795159

NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)

SNV
Germline

Chr3:81577938

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353684586

rs_2471722766

1 SubmittersRCV003808940

NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)

SNV
Germline

Chr3:81642982

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Single Submitter

CA353687571

rs_754525424

1 SubmittersRCV003804766

NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)

SNV
Germline

Chr3:81642962

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

CA353687530

rs_2471817112

1 SubmittersRCV003809432

NM_000158.4(GBE1):c.1666A>T (p.Asn556Tyr)

SNV
Germline

Chr3:81537048

Likely pathogenic

Glycogen storage disease, type IV
Glycogen storage disease, type IV
Adult polyglucosan body disease

Criteria Provided
Multiple Submitters
No Conflicts

CA78280349

rs_937683680

2 SubmittersRCV004527218 RCV005038704

NM_000158.4(GBE1):c.992+1G>T

SNV
Unknown

Chr3:81642780

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

rs_1295205981

1 SubmittersRCV004576675

NM_000158.4(GBE1):c.1109-1G>T

SNV
Unknown

Chr3:81591165

Likely pathogenic

Glycogen storage disease, type IV

Criteria Provided
Single Submitter

rs_763258786

1 SubmittersRCV004576676

NM_000158.4(GBE1):c.1782T>A (p.Tyr594Ter)

SNV
Germline

Chr3:81536932

Likely pathogenic

Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

1 SubmittersRCV005037218

NM_000158.4(GBE1):c.1771G>T (p.Glu591Ter)

SNV
Germline

Chr3:81536943

Likely pathogenic

Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

1 SubmittersRCV005024884

NM_000158.4(GBE1):c.1244C>G (p.Ser415Ter)

SNV
Germline

Chr3:81586183

Likely pathogenic

Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

1 SubmittersRCV005037219

NM_000158.4(GBE1):c.995G>A (p.Trp332Ter)

SNV
Germline

Chr3:81594021

Likely pathogenic

Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

1 SubmittersRCV005024886

NM_000158.4(GBE1):c.429+1G>T

SNV
Germline

Chr3:81670837

Likely pathogenic

Adult polyglucosan body disease
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

1 SubmittersRCV005024889

NM_000158.4(GBE1):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr3:81646468

Pathogenic

Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV

Criteria Provided
Single Submitter

1 SubmittersRCV005217302

NM_000158.4(GBE1):c.728A>G (p.His243Arg)

SNV
Germline

Chr3:81646446

Likely pathogenic

Glycogen storage disease, type IV

No Assertion Criteria Provided

1 SubmittersRCV005614041

NM_000158.4(GBE1):c.1006A>T (p.Arg336Ter)

SNV
Germline

Chr3:81594010

Likely pathogenic

Glycogen storage disease, type IV

No Assertion Criteria Provided

1 SubmittersRCV005614047

NM_000158.4(GBE1):c.1618+2T>C

SNV
Germline

Chr3:81577923

Pathogenic

Glycogen storage disease, type IV

No Assertion Criteria Provided

1 SubmittersRCV005615891