Total 32 pathogenic variants reported for Adult polyglucosan body disease 
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
Adult polyglucosan body neuropathy
GBE1-related disorder
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
Adult polyglucosan body disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115743 rs_80338671

18 SubmittersRCV000002907RCV000020163RCV000150105RCV000304728RCV000555363RCV000763520RCV000991160RCV000493505
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) SNV
Germline		 Chr3:81577973 Pathogenic/Likely pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Condition: not provided
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
 CA115751 rs_137852888

12 SubmittersRCV000002914RCV000002913RCV000056093RCV000490013RCV001052971RCV002490300
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, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic		 Criteria Provided
Conflicting Classifications
 CA115764 rs_137852893

5 SubmittersRCV000002925RCV000501317RCV001826408RCV002512687
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, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
See cases
GBE1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA185932 rs_201958741

11 SubmittersRCV000157612RCV000519980RCV000692455RCV001275349RCV001826858RCV002252009RCV004535028
NM_000158.4(GBE1):c.691+2T>C SNV
Germline		 Chr3:81648854 Pathogenic Glycogen storage disease, type IV
Condition: not provided
GBE1-related disorder
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease
Adult polyglucosan body disease
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA276004 rs_192044702

30 SubmittersRCV000190589RCV000224184RCV000368399RCV000660553RCV000706641RCV001449661RCV003388833RCV004020302
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) SNV
Germline		 Chr3:81578022 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Adult polyglucosan body disease
Condition: not provided
Glycogen storage disease, type IV		 Criteria Provided
Conflicting Classifications
 CA207609 rs_372821643

9 SubmittersRCV000193851RCV000973898RCV001146945RCV001699060RCV001146946
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		 Criteria Provided
Conflicting Classifications
 CA2499619 rs_140571802

3 SubmittersRCV000294270RCV000386331RCV001478610RCV004530400
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 SubmittersRCV000278997RCV000336211RCV000941062RCV004021930
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 SubmittersRCV000301163RCV000400318RCV001570231RCV000966414
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
Condition: not provided
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic		 Criteria Provided
Conflicting Classifications
 CA2499484 rs_202158511

7 SubmittersRCV000297840RCV000357256RCV001354590RCV000966281
NM_000158.4(GBE1):c.1237-15C>T SNV
Germline		 Chr3:81586205 Conflicting classifications of pathogenicity 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
 CA2499733 rs_376809475

3 SubmittersRCV000339774RCV000408225RCV000616457RCV002061237
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		 Criteria Provided
Conflicting Classifications
 CA2499874 rs_747155575

5 SubmittersRCV000272591RCV000329970RCV002523458RCV004530401
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) SNV
Germline		 Chr3:81642787 Conflicting classifications of pathogenicity Glycogen storage disease, type IV
Condition: not provided
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
not specified		 Criteria Provided
Conflicting Classifications
 CA2499826 rs_80338671

15 SubmittersRCV000410814RCV000490240RCV000529291RCV001145097RCV001172459
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) SNV
Germline		 Chr3:81646414 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type IV
not specified
Adult polyglucosan body disease
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV		 Criteria Provided
Conflicting Classifications
 CA2499872 rs_770427750

11 SubmittersRCV000416121RCV001147053RCV001584110RCV001147052RCV001245740
NM_000158.4(GBE1):c.313+15G>A SNV
Germline		 Chr3:81705429 Conflicting classifications of pathogenicity not specified
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV		 Criteria Provided
Conflicting Classifications
 CA2500016 rs_184391304

3 SubmittersRCV000444093RCV001145198RCV001145197RCV002522605
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) SNV
Germline		 Chr3:81537021 Conflicting classifications of pathogenicity Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Adult polyglucosan body disease
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV
not specified		 Criteria Provided
Conflicting Classifications
 CA2499591 rs_552094593

7 SubmittersRCV000487962RCV000855462RCV001329659RCV002528222RCV001829394RCV003330722
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 IV, classic hepatic
Glycogen storage disease, type IV		 Criteria Provided
Conflicting Classifications
 CA2499857 rs_369574719

9 SubmittersRCV000502833RCV000674419RCV001770384RCV002509416RCV002524352
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) SNV
Germline		 Chr3:81761503 Conflicting classifications of pathogenicity Glycogen storage disease, type IV
Condition: not provided
Glycogen storage disease, type IV
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Adult polyglucosan body disease
not specified
GBE1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2500119 rs_62267114

9 SubmittersRCV000509180RCV000513618RCV000764515RCV000704354RCV001149608RCV003403196RCV004535645
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) SNV
Germline		 Chr3:81591139 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Adult polyglucosan body disease
GBE1-related disorder		 Criteria Provided
Conflicting Classifications
 CA2499775 rs_36099971

8 SubmittersRCV000513273RCV000666996RCV001080686RCV001149393RCV004535652
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 SubmittersRCV000526226RCV002483363
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 SubmittersRCV000611635RCV000892880RCV001148054RCV001148055RCV003431149
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) SNV
Germline		 Chr3:81535304 Conflicting classifications of pathogenicity Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Adult polyglucosan body disease
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_772802187

7 SubmittersRCV000700490RCV001144992RCV001144993RCV002307601RCV003144551
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
Adult polyglucosan body disease
Glycogen storage disease, type IV
GBE1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_185631651

6 SubmittersRCV000762123RCV001301590RCV001825509RCV002507334RCV004540085
NM_000158.4(GBE1):c.969T>C (p.Asp323=) SNV
Germline		 Chr3:81642804 Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Adult polyglucosan body disease		 Criteria Provided
Conflicting Classifications
 rs_555689284

3 SubmittersRCV000934171RCV001145099RCV001145098
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, type IV
Glycogen storage disease IV, classic hepatic		 Criteria Provided
Conflicting Classifications
 rs_774354874

2 SubmittersRCV001144990RCV001144991RCV001436144
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
 rs_757655010

2 SubmittersRCV001147054RCV001147940RCV002557151
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, type IV
Glycogen storage disease IV, classic hepatic
GBE1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_754051144

3 SubmittersRCV001149484RCV001149485RCV001462204RCV004545084
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) SNV
Germline		 Chr3:81578059 Conflicting classifications of pathogenicity 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
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1456579860

4 SubmittersRCV001829302RCV002489894RCV003772351RCV003132541
NM_000158.4(GBE1):c.955C>T (p.His319Tyr) SNV
Germline		 Chr3:81642818 Conflicting classifications of pathogenicity Adult polyglucosan body disease
Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV		 Criteria Provided
Conflicting Classifications
 rs_767100121

2 SubmittersRCV001829306RCV001885378
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
 rs_779475367

4 SubmittersRCV001829308RCV001869839RCV003494573
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) SNV
Germline		 Chr3:81705464 Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic
Glycogen storage disease, type IV
Condition: not provided
Glycogen storage disease, type IV
Adult polyglucosan body disease		 Criteria Provided
Conflicting Classifications
 rs_775486403

4 SubmittersRCV002542782RCV003481134RCV003333181RCV001829310