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.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.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.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.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.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.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.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_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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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