Total 586 pathogenic variants reported for Glycogen storage disease, type V 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000289.6(PFKM):c.1341+1G>T SNV
Germline		 Chr12:48140872 Pathogenic Glycogen storage disease, type VII No Assertion Criteria Provided
 CA6537313 rs_755419857

1 SubmittersRCV000001211
NM_000289.6(PFKM):c.428-2A>C SNV
Germline		 Chr12:48133313 Pathogenic Glycogen storage disease, type VII No Assertion Criteria Provided
 CA236510227 rs_895690691

1 SubmittersRCV000001212
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) SNV
Germline		 Chr12:48130393 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA114800 rs_121918193

4 SubmittersRCV000001213
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) SNV
Germline		 Chr12:48130393 Pathogenic Glycogen storage disease, type VII No Assertion Criteria Provided
 CA114804 rs_121918193

1 SubmittersRCV000001216
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) SNV
Germline		 Chr12:48132913 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA114806 rs_121918195

5 SubmittersRCV000001217
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) SNV
Germline		 Chr12:48145096 Pathogenic Glycogen storage disease, type VII No Assertion Criteria Provided
 CA114809 rs_121918196

1 SubmittersRCV000001218
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) SNV
Germline		 Chr11:64759751 Pathogenic Glycogen storage disease, type V
Condition: not provided
Inborn genetic diseases
See cases
Tip-toe gait
Hereditary skeletal muscle disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA222884 rs_116987552

37 SubmittersRCV000002388RCV000081306RCV000622729RCV002251857RCV003319158RCV005624665
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) SNV
Germline		 Chr11:64757826 Pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339962 rs_119103251

14 SubmittersRCV000002389RCV000414632
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) SNV
Germline		 Chr11:64752064 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA339963 rs_119103252

3 SubmittersRCV000002390
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) SNV
Germline		 Chr11:64751331 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA252200 rs_119103253

6 SubmittersRCV000002392
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) SNV
Germline		 Chr11:64750557 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA252201 rs_119103256

5 SubmittersRCV000002393RCV003441700
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro) SNV
Germline		 Chr11:64753931 Pathogenic Glycogen storage disease, type V No Assertion Criteria Provided
 CA252202 rs_119103254

1 SubmittersRCV000002394
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) SNV
Germline		 Chr11:64750497 Pathogenic/Likely pathogenic Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder
Tip-toe gait		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252204 rs_144081869

9 SubmittersRCV000002396RCV001091628RCV003407258RCV003319973
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) SNV
Germline		 Chr11:64751966 Pathogenic/Likely pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252206 rs_119103255

13 SubmittersRCV000002397RCV000578544
NM_005609.4(PYGM):c.1A>G (p.Met1Val) SNV
Germline		 Chr11:64759898 Pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252209 rs_267606993

8 SubmittersRCV000002399RCV001579810
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter) SNV
Germline		 Chr11:64752071 Pathogenic Glycogen storage disease, type V No Assertion Criteria Provided
 CA252211 rs_119103257

1 SubmittersRCV000002400
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) SNV
Germline		 Chr11:64746796 Pathogenic/Likely pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA222889 rs_119103258

13 SubmittersRCV000002402RCV000081312
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) SNV
Germline		 Chr11:64751597 Pathogenic Glycogen storage disease, type V
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339964 rs_119103259

8 SubmittersRCV000002403RCV002251858
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) SNV
Germline		 Chr11:64751970 Pathogenic/Likely pathogenic Glycogen storage disease, type V No Assertion Criteria Provided
 CA252213 rs_119103260

2 SubmittersRCV000002404
NM_005609.4(PYGM):c.661-601G>A SNV
Germline		 Chr11:64756159 Pathogenic/Likely pathogenic McArdle disease, mild
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA679275575 rs_1474863903

3 SubmittersRCV000002405RCV001851580
NM_005609.4(PYGM):c.425-26A>G SNV
Germline		 Chr11:64758375 Pathogenic/Likely pathogenic McArdle disease, mild
Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212798 rs_764313717

10 SubmittersRCV000002406RCV000454242RCV001564860
NM_002863.5(PYGL):c.1768+1G>A SNV
Germline		 Chr14:50912155 Pathogenic Glycogen storage disease, type VI Criteria Provided
Multiple Submitters
No Conflicts
 CA341169 rs_113993982

7 SubmittersRCV000012772
NM_002863.5(PYGL):c.529-1G>C SNV
Germline		 Chr14:50924101 Pathogenic Glycogen storage disease, type VI No Assertion Criteria Provided
 CA341170 rs_113993974

2 SubmittersRCV000012773
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) SNV
Germline		 Chr14:50915933 Pathogenic Glycogen storage disease, type VI No Assertion Criteria Provided
 CA341171 rs_113993977

2 SubmittersRCV000012775
NM_002863.5(PYGL):c.1620+1G>A SNV
Germline		 Chr14:50913028 Pathogenic/Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Multiple Submitters
No Conflicts
 CA341172 rs_113993981

4 SubmittersRCV000012776
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter) SNV
Germline		 Chr14:50915869 Pathogenic Glycogen storage disease, type VI
Condition: not provided		 Criteria Provided
Single Submitter
 CA341904 rs_113993978

2 SubmittersRCV000020492RCV000760439
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) SNV
Germline		 Chr14:50915373 Pathogenic/Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Multiple Submitters
No Conflicts
 CA341906 rs_113993979

3 SubmittersRCV000020493
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) SNV
Germline		 Chr14:50914748 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
not specified		 Criteria Provided
Conflicting Classifications
 CA341908 rs_113993980

3 SubmittersRCV000020494RCV005237398
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) SNV
Germline		 Chr14:50911799 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
Condition: not provided
PYGL-related disorder		 Criteria Provided
Conflicting Classifications
 CA240710 rs_35026927

13 SubmittersRCV000020496RCV000675363RCV003934845
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) SNV
Germline		 Chr14:50910048 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA341916 rs_113993986

2 SubmittersRCV000020499
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) SNV
Germline		 Chr14:50937801 Pathogenic Glycogen storage disease, type VI Criteria Provided
Multiple Submitters
No Conflicts
 CA341922 rs_113993973

3 SubmittersRCV000020502
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) SNV
Germline		 Chr14:50921030 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA341926 rs_113993975

2 SubmittersRCV000020504
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) SNV
Germline		 Chr14:50916718 Pathogenic Glycogen storage disease, type VI No Assertion Criteria Provided
 CA342908 rs_113993976

2 SubmittersRCV000031853
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) SNV
Germline		 Chr11:64759747 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA261238 rs_397514631

3 SubmittersRCV000033140
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) SNV
Germline		 Chr11:64753556 Pathogenic/Likely pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA222880 rs_398124208

5 SubmittersRCV000169330RCV000790687
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) SNV
Germline		 Chr11:64753125 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA222882 rs_398124209

9 SubmittersRCV000081305RCV001047041
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) SNV
Germline		 Chr11:64751337 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided
Tip-toe gait		 Criteria Provided
Conflicting Classifications
 CA222886 rs_61736659

8 SubmittersRCV000763760RCV000723589RCV002227444
NM_005609.4(PYGM):c.645G>A (p.Lys215=) SNV
Germline		 Chr11:64757794 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA148401 rs_116315896

14 SubmittersRCV000081315RCV000128552RCV000585529RCV003298135
NM_005609.4(PYGM):c.999+20C>T SNV
Germline		 Chr11:64754673 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA222892 rs_201711087

5 SubmittersRCV000238806RCV001510568RCV000723472RCV004752741
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) SNV
Germline		 Chr11:64758693 Pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA345696 rs_527236146

4 SubmittersRCV000128551
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) SNV
Germline		 Chr11:64759898 Pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA270754 rs_267606993

4 SubmittersRCV000144425
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) SNV
Germline		 Chr11:64755280 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA234752 rs_114468011

10 SubmittersRCV000370261RCV000723895RCV003895051
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) SNV
Germline		 Chr11:64755320 Pathogenic/Likely pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274003 rs_767739769

8 SubmittersRCV000169167RCV000627209
NM_000289.6(PFKM):c.237+1G>A SNV
Germline		 Chr12:48131394 Pathogenic/Likely pathogenic Glycogen storage disease, type VII
Rhabdomyolysis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199168 rs_202143236

11 SubmittersRCV000169670RCV000662285RCV002243838
NM_005609.4(PYGM):c.182G>A (p.Arg61His) SNV
Germline		 Chr11:64759717 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA238832 rs_145514333

6 SubmittersRCV000173380RCV000664912RCV000828466
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) SNV
Germline		 Chr11:64753881 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA239269 rs_142054672

7 SubmittersRCV000675637RCV001079321RCV003937552
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) SNV
Germline		 Chr11:64752486 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Tip-toe gait
not specified
PYGM-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA240092 rs_139570786

12 SubmittersRCV000509394RCV001849178RCV003330533RCV003430725RCV000675632
NM_005609.4(PYGM):c.1768+1G>A SNV
Germline		 Chr11:64751923 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275011 rs_771427957

11 SubmittersRCV000423322RCV000624349RCV000763265
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) SNV
Germline		 Chr14:50911752 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type VI		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275031 rs_150547274

3 SubmittersRCV000175037RCV002516658
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) SNV
Germline		 Chr11:64750529 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA240894 rs_794727189

3 SubmittersRCV000175191RCV002516665
NM_005609.4(PYGM):c.660G>A (p.Gln220=) SNV
Germline		 Chr11:64757779 Conflicting classifications of pathogenicity not specified
Condition: not provided
Tip-toe gait
Glycogen storage disease, type V
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA246105 rs_142234258

18 SubmittersRCV000242887RCV000656957RCV001813765RCV000374157RCV005625383
NM_005609.4(PYGM):c.924C>T (p.Ile308=) SNV
Germline		 Chr11:64754768 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247669 rs_139726186

8 SubmittersRCV000252449RCV000275037RCV000724693
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) SNV
Germline		 Chr11:64754024 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided
Tip-toe gait		 Criteria Provided
Conflicting Classifications
 CA275527 rs_116135678

16 SubmittersRCV000185576RCV000723508RCV001822854
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) SNV
Germline		 Chr11:64751424 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6079690 rs_143217651

6 SubmittersRCV000245345RCV000296404RCV001722323
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) SNV
Germline		 Chr11:64757827 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6080191 rs_200467937

6 SubmittersRCV000247993RCV000887073RCV001705367
NM_005609.4(PYGM):c.540C>T (p.Ala180=) SNV
Germline		 Chr11:64757899 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6080210 rs_148731983

3 SubmittersRCV000241581RCV000882322
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) SNV
Germline		 Chr14:50915465 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type VI
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7183503 rs_2228499

5 SubmittersRCV000245720RCV001069939RCV004791374RCV004021009
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) SNV
Germline		 Chr11:64751370 Conflicting classifications of pathogenicity not specified
Condition: not provided
Glycogen storage disease, type V
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6079674 rs_116180923

7 SubmittersRCV000319373RCV000657929RCV001088058RCV002519079
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) SNV
Germline		 Chr11:64746742 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V
Tip-toe gait
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6079510 rs_143177272

5 SubmittersRCV000321977RCV000763759RCV001855083RCV002518814
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) SNV
Germline		 Chr11:64753958 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6079984 rs_200357590

5 SubmittersRCV000368305RCV001086488
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) SNV
Germline		 Chr11:64753975 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6079987 rs_143401208

3 SubmittersRCV000349885RCV001088703
NM_005609.4(PYGM):c.352C>T (p.Leu118=) SNV
Germline		 Chr11:64758509 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6080275 rs_770341565

2 SubmittersRCV000374564RCV002519119
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) SNV
Germline		 Chr11:64753573 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V
not specified		 Criteria Provided
Conflicting Classifications
 CA6079907 rs_756251887

7 SubmittersRCV000338366RCV000671505RCV001778878
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) SNV
Germline		 Chr11:64754262 Conflicting classifications of pathogenicity Glycogen storage disease, type V
not specified
Condition: not provided
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA6080018 rs_141959242

6 SubmittersRCV000310215RCV000407094RCV000725611RCV003920093
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) SNV
Germline		 Chr11:64751637 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6079735 rs_150622626

8 SubmittersRCV000675629RCV001103026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) SNV
Germline		 Chr11:64747268 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA6079587 rs_144229867

5 SubmittersRCV000331663RCV001705453RCV003940158
NM_005609.4(PYGM):c.537G>A (p.Glu179=) SNV
Germline		 Chr11:64757902 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA10631141 rs_886048462

2 SubmittersRCV000285461
NM_002863.5(PYGL):c.691G>A (p.Val231Met) SNV
Germline		 Chr14:50921037 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7183708 rs_148378112

3 SubmittersRCV000361092RCV002522303
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) SNV
Germline		 Chr14:50924018 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
not specified
Condition: not provided
PYGL-related disorder		 Criteria Provided
Conflicting Classifications
 CA7183751 rs_34096980

8 SubmittersRCV000325829RCV000595200RCV000761876RCV003910177
NM_002863.5(PYGL):c.603G>T (p.Val201=) SNV
Germline		 Chr14:50924026 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
PYGL-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7183753 rs_138364932

4 SubmittersRCV000364145RCV003940215RCV003311750
NM_005609.4(PYGM):c.1239+8C>T SNV
Germline		 Chr11:64753871 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA10635243 rs_886048461

4 SubmittersRCV000341998
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) SNV
Germline		 Chr11:64754334 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080030 rs_767039732

2 SubmittersRCV000367183
NM_000289.6(PFKM):c.638+15C>A SNV
Germline		 Chr12:48134291 Conflicting classifications of pathogenicity Glycogen storage disease, type VII
not specified		 Criteria Provided
Conflicting Classifications
 CA6537060 rs_376150217

3 SubmittersRCV000295502RCV000436568
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) SNV
Germline		 Chr12:48140772 Conflicting classifications of pathogenicity Glycogen storage disease, type VII Criteria Provided
Conflicting Classifications
 CA10637570 rs_886049454

2 SubmittersRCV000364433
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) SNV
Germline		 Chr11:64746776 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079514 rs_199927544

3 SubmittersRCV000303890
NM_005609.4(PYGM):c.2177+7G>A SNV
Germline		 Chr11:64750369 Conflicting classifications of pathogenicity Glycogen storage disease, type V
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6079623 rs_201366697

6 SubmittersRCV000388531RCV000604465RCV003221900
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) SNV
Germline		 Chr11:64754815 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6080079 rs_558267822

7 SubmittersRCV000313797RCV000522784RCV002229955RCV005260033
NM_005609.4(PYGM):c.330C>T (p.Asp110=) SNV
Germline		 Chr11:64758618 Conflicting classifications of pathogenicity Glycogen storage disease, type V
not specified
Condition: not provided
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA6080309 rs_114742918

8 SubmittersRCV000344345RCV000443441RCV000509222RCV003957578
NM_005609.4(PYGM):c.256C>T (p.Leu86=) SNV
Germline		 Chr11:64758692 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080317 rs_541817643

2 SubmittersRCV000382595
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) SNV
Germline		 Chr11:64747246 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6079579 rs_190548494

6 SubmittersRCV000274335RCV001551241
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) SNV
Germline		 Chr11:64753656 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079933 rs_769602726

2 SubmittersRCV000338371
NM_005609.4(PYGM):c.1239+12G>A SNV
Germline		 Chr11:64753867 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079959 rs_760471706

2 SubmittersRCV000284704
NM_005609.4(PYGM):c.606C>T (p.His202=) SNV
Germline		 Chr11:64757833 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080193 rs_79860859

3 SubmittersRCV000263138
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) SNV
Germline		 Chr14:50911779 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7183290 rs_140296036

3 SubmittersRCV000379057RCV003391122
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) SNV
Germline		 Chr14:50911815 Conflicting classifications of pathogenicity Glycogen storage disease, type VI Criteria Provided
Conflicting Classifications
 CA7183297 rs_374560108

2 SubmittersRCV000289301
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) SNV
Germline		 Chr14:50912167 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7183363 rs_144989341

4 SubmittersRCV000385175RCV004791404RCV003165843
NM_000289.6(PFKM):c.453G>A (p.Thr151=) SNV
Germline		 Chr12:48133340 Conflicting classifications of pathogenicity Glycogen storage disease, type VII
not specified		 Criteria Provided
Conflicting Classifications
 CA6537002 rs_144370737

5 SubmittersRCV000335148RCV000437761
NM_000289.6(PFKM):c.1063-7C>T SNV
Germline		 Chr12:48139278 Conflicting classifications of pathogenicity Glycogen storage disease, type VII Criteria Provided
Conflicting Classifications
 CA6537203 rs_776228408

2 SubmittersRCV000312118
NM_002863.5(PYGL):c.1519-15C>A SNV
Germline		 Chr14:50913145 Conflicting classifications of pathogenicity Glycogen storage disease, type VI Criteria Provided
Conflicting Classifications
 CA7183442 rs_372886463

2 SubmittersRCV000391908
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu) SNV
Unknown		 Chr11:64746660 Likely pathogenic Glycogen storage disease, type V No Assertion Criteria Provided
 CA16041492 rs_1057516529

1 SubmittersRCV000409749
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) SNV
Germline		 Chr11:64746948 Pathogenic/Likely pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041493 rs_1057517001

6 SubmittersRCV000409053RCV001508669
NM_005609.4(PYGM):c.1970-1G>A SNV
Germline		 Chr11:64750584 Pathogenic/Likely pathogenic Glycogen storage disease, type V No Assertion Criteria Provided
 CA16041496 rs_1057516598

2 SubmittersRCV000410171
NM_005609.4(PYGM):c.1969+1G>T SNV
Unknown		 Chr11:64751324 Likely pathogenic Glycogen storage disease, type V No Assertion Criteria Provided
 CA16041497 rs_753181427

1 SubmittersRCV000411206
NM_005609.4(PYGM):c.1827+1G>C SNV
Germline		 Chr11:64751596 Likely pathogenic Glycogen storage disease, type V
Tip-toe gait		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041498 rs_1057517442

4 SubmittersRCV000409723RCV003319195
NM_005609.4(PYGM):c.1768+2T>G SNV
Germline		 Chr11:64751922 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6079760 rs_747513238

4 SubmittersRCV000411312
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) SNV
Germline		 Chr11:64751975 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6079772 rs_752848974

3 SubmittersRCV000410338
NM_005609.4(PYGM):c.1092+1G>A SNV
Germline		 Chr11:64754252 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6080017 rs_749560316

4 SubmittersRCV000411263
NM_005609.4(PYGM):c.528+2T>G SNV
Germline		 Chr11:64758244 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA16041501 rs_1057516468

3 SubmittersRCV000410907
NM_005609.4(PYGM):c.425-2A>G SNV
Germline		 Chr11:64758351 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6080246 rs_752851284

4 SubmittersRCV000410172
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) SNV
Germline		 Chr11:64758696 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA16041505 rs_1057517145

3 SubmittersRCV000412392
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) SNV
Unknown		 Chr11:64759682 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA16041506 rs_1057517361

2 SubmittersRCV000409722
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) SNV
Germline		 Chr11:64759695 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA16041507 rs_1057516349

3 SubmittersRCV000411559
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) SNV
Germline		 Chr11:64747337 Conflicting classifications of pathogenicity not specified
Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6079602 rs_140102591

4 SubmittersRCV000418804RCV000994652RCV001108215
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) SNV
Germline		 Chr11:64752000 Conflicting classifications of pathogenicity Glycogen storage disease, type V
PYGM-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6079779 rs_116812032

6 SubmittersRCV000531995RCV003902525RCV001720162
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) SNV
Germline		 Chr11:64753126 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6079853 rs_752622662

4 SubmittersRCV000480329RCV000675078
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) SNV
Germline		 Chr12:48130392 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type VII		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16619532 rs_1064795749

4 SubmittersRCV000485301RCV001274001
NM_005609.4(PYGM):c.1970-2A>T SNV
Germline		 Chr11:64750585 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621622 rs_1064797157

2 SubmittersRCV000488033RCV001782972
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) SNV
Germline		 Chr11:64747224 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6079570 rs_150911354

6 SubmittersRCV000493384RCV000669086
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) SNV
Germline		 Chr11:64753971 Pathogenic/Likely pathogenic Condition: not provided
PYGM-related disorder
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6079985 rs_757681143

8 SubmittersRCV000494108RCV003409682RCV001036939
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) SNV
Germline		 Chr11:64751346 Pathogenic Glycogen storage disease, type V
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6079669 rs_114073621

8 SubmittersRCV000498994RCV003324712
NM_005609.4(PYGM):c.2178-1G>A SNV
Germline		 Chr11:64747359 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6079609 rs_143670942

6 SubmittersRCV000520606RCV001783020
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) SNV
Germline		 Chr11:64751369 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6079673 rs_150098198

5 SubmittersRCV000519020RCV001271475RCV002527593
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) SNV
Germline		 Chr11:64758257 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V
EBV-positive nodal T- and NK-cell lymphoma		 Criteria Provided
Conflicting Classifications
 CA6080233 rs_141265458

6 SubmittersRCV000523818RCV000812757RCV004559144
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) SNV
Germline		 Chr11:64758668 Pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6080314 rs_370247862

7 SubmittersRCV000557171RCV001540069
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) SNV
Germline		 Chr11:64751406 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6079683 rs_115347245

7 SubmittersRCV000596502RCV001088368RCV000837922RCV002532359
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) SNV
Germline		 Chr14:50921031 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type VI		 Criteria Provided
Conflicting Classifications
 CA7183705 rs_749922511

4 SubmittersRCV000592955RCV000989223
NM_005609.4(PYGM):c.661-9C>T SNV
Germline		 Chr11:64755567 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6080166 rs_776779910

2 SubmittersRCV000595437RCV001443981
NM_005609.4(PYGM):c.855+4C>T SNV
Germline		 Chr11:64755269 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6080102 rs_199834605

3 SubmittersRCV001722626RCV002529458
NM_000289.6(PFKM):c.1191+6G>T SNV
Germline		 Chr12:48139918 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type VII		 Criteria Provided
Conflicting Classifications
 CA6537258 rs_779486374

2 SubmittersRCV000611528RCV002531708
NM_000289.6(PFKM):c.1412+6T>C SNV
Germline		 Chr12:48141387 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type VII		 Criteria Provided
Conflicting Classifications
 CA604848098 rs_1417385697

2 SubmittersRCV000611211RCV002531639
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) SNV
Germline		 Chr14:50915919 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
Condition: not provided
not specified
PYGL-related disorder		 Criteria Provided
Conflicting Classifications
 CA7183547 rs_143759519

11 SubmittersRCV000625936RCV003311865RCV003488738RCV003917992
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) SNV
Germline		 Chr11:64746796 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6079524 rs_119103258

5 SubmittersRCV000631182
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) SNV
Germline		 Chr11:64753577 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6079910 rs_769172044

5 SubmittersRCV000657906RCV001275777
NM_005609.4(PYGM):c.2380-1G>A SNV
Germline		 Chr11:64746809 Pathogenic/Likely pathogenic Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381164021 rs_1555133248

5 SubmittersRCV000668975RCV001766443
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) SNV
Germline		 Chr11:64758253 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381108786 rs_1555136375

2 SubmittersRCV000673149
NM_005609.4(PYGM):c.1A>T (p.Met1Leu) SNV
Germline		 Chr11:64759898 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381113509 rs_267606993

2 SubmittersRCV000668678
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) SNV
Germline		 Chr11:64750410 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA381167557 rs_780656375

7 SubmittersRCV000670902RCV004812348
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) SNV
Germline		 Chr11:64753925 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079975 rs_773204705

6 SubmittersRCV000667688
NM_005609.4(PYGM):c.1093-1G>T SNV
Unknown		 Chr11:64754026 Likely pathogenic Glycogen storage disease, type V No Assertion Criteria Provided
 CA381176916 rs_1163710370

1 SubmittersRCV000670071
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) SNV
Germline		 Chr11:64754817 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6080080 rs_780375860

5 SubmittersRCV000666175RCV002469240
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) SNV
Germline		 Chr11:64753989 Conflicting classifications of pathogenicity Glycogen storage disease, type V
not specified		 Criteria Provided
Conflicting Classifications
 CA223900777 rs_954192338

5 SubmittersRCV000672453RCV004526749
NM_005609.4(PYGM):c.660+1G>A SNV
Germline		 Chr11:64757778 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381107346 rs_1555136208

4 SubmittersRCV000667359
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) SNV
Germline		 Chr11:64758293 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080240 rs_200038732

5 SubmittersRCV000666983
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) SNV
Germline		 Chr11:64758299 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6080241 rs_760654579

3 SubmittersRCV000671611
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) SNV
Germline		 Chr11:64753967 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381176666 rs_1465752595

2 SubmittersRCV000671988
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) SNV
Germline		 Chr11:64758446 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA223888331 rs_367990192

6 SubmittersRCV000671584
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) SNV
Germline		 Chr11:64758491 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381109873 rs_1555136459

2 SubmittersRCV000668184
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) SNV
Germline		 Chr11:64758514 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080276 rs_776680924

5 SubmittersRCV000666659
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) SNV
Germline		 Chr12:48139349 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA6537218 rs_187131358

5 SubmittersRCV000670080
NM_005609.4(PYGM):c.1239+1G>A SNV
Germline		 Chr11:64753878 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6079962 rs_759657964

4 SubmittersRCV000690159
NM_002863.5(PYGL):c.1518G>A (p.Glu506=) SNV
Germline		 Chr14:50914701 Conflicting classifications of pathogenicity Glycogen storage disease, type VI Criteria Provided
Conflicting Classifications
 CA7183453 rs_748519147

2 SubmittersRCV000700937
NM_000289.6(PFKM):c.1191+1G>A SNV
Germline		 Chr12:48139913 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA6537256 rs_746348793

5 SubmittersRCV000696045
NM_002863.5(PYGL):c.1828-9T>A SNV
Germline		 Chr14:50911880 Conflicting classifications of pathogenicity Glycogen storage disease, type VI Criteria Provided
Conflicting Classifications
 CA7183310 rs_372338710

2 SubmittersRCV000695403
NM_005609.4(PYGM):c.856-2A>C SNV
Germline		 Chr11:64754838 Likely pathogenic Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Single Submitter
 CA381179297 rs_1565536363

2 SubmittersRCV000723129RCV003768171
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) SNV
Germline		 Chr11:64751619 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V
Tip-toe gait
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA6079730 rs_373190458

10 SubmittersRCV000727737RCV000779073RCV002221250RCV003420284
NM_000289.6(PFKM):c.1413-2A>G SNV
Germline		 Chr12:48141738 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type VII		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384551542 rs_1430517061

4 SubmittersRCV000733881RCV001065921
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) SNV
Germline		 Chr11:64758458 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6080270 rs_780246932

4 SubmittersRCV000761339
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) SNV
Germline		 Chr11:64751969 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381170544 rs_1315020035

1 SubmittersRCV000778335
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) SNV
Germline		 Chr14:50905469 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA7183094 rs_756205397

1 SubmittersRCV000779138
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) SNV
Germline		 Chr14:50912195 Pathogenic/Likely pathogenic Glycogen storage disease, type VI
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7183370 rs_149096315

2 SubmittersRCV000779139RCV001585707
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) SNV
Germline		 Chr11:64750470 Pathogenic Glycogen storage disease, type V
Glycogen storage disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6079643 rs_768604948

5 SubmittersRCV000815465RCV004017747
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) SNV
Germline		 Chr11:64752462 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381173882 rs_1592410003

1 SubmittersRCV000805625
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) SNV
Germline		 Chr14:50905510 Pathogenic/Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Multiple Submitters
No Conflicts
 CA7183101 rs_760187622

2 SubmittersRCV000809511
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) SNV
Germline		 Chr14:50910001 Pathogenic/Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Multiple Submitters
No Conflicts
 CA7183230 rs_539898848

4 SubmittersRCV000811116
NM_005609.4(PYGM):c.1240-2A>G SNV
Germline		 Chr11:64753684 Likely pathogenic Glycogen storage disease, type V
PYGM-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381176196 rs_1212333772

4 SubmittersRCV000815772RCV004753050
NM_002863.5(PYGL):c.772+1G>A SNV
Germline		 Chr14:50920955 Pathogenic/Likely pathogenic Glycogen storage disease, type VI
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7183692 rs_776545903

2 SubmittersRCV000797589RCV003332253
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) SNV
Germline		 Chr11:64747250 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6079580 rs_75685607

5 SubmittersRCV000828467RCV001423332RCV002298792RCV005260450
NM_005609.4(PYGM):c.1110G>A (p.Val370=) SNV
Germline		 Chr11:64754008 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079993 rs_372719040

4 SubmittersRCV000892111
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) SNV
Germline		 Chr12:48122815 Conflicting classifications of pathogenicity Glycogen storage disease, type VII
PFKM-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6536834 rs_140473672

5 SubmittersRCV000878987RCV003948282RCV004792567
NM_002863.5(PYGL):c.147C>T (p.Thr49=) SNV
Germline		 Chr14:50944257 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type VI		 Criteria Provided
Conflicting Classifications
 CA7183899 rs_139338050

3 SubmittersRCV000883353RCV001113925
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) SNV
Germline		 Chr11:64750471 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079644 rs_773543072

2 SubmittersRCV001108216
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) SNV
Germline		 Chr12:48145238 Conflicting classifications of pathogenicity Glycogen storage disease, type VII Criteria Provided
Conflicting Classifications
 CA236519867 rs_370046842

2 SubmittersRCV000941174
NM_005609.4(PYGM):c.346-9C>T SNV
Germline		 Chr11:64758524 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080280 rs_368998655

2 SubmittersRCV001103123
NM_005609.4(PYGM):c.100C>A (p.Arg34=) SNV
Germline		 Chr11:64759799 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA475161342 rs_531748591

2 SubmittersRCV000983539
NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn) SNV
Germline		 Chr14:50914809 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7183462 rs_78433217

2 SubmittersRCV001392683RCV004958351
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) SNV
Unknown		 Chr14:50944228 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA260846444 rs_150483902

1 SubmittersRCV000989224
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) SNV
Germline		 Chr11:64751984 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Glycogen storage disease
Condition: not provided
not specified
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA6079775 rs_377225525

10 SubmittersRCV000995849RCV004017771RCV001823175RCV003323777RCV004753160
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter) SNV
Germline		 Chr11:64752035 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381171089 rs_1311913891

1 SubmittersRCV001063572
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) SNV
Germline		 Chr11:64753928 Pathogenic/Likely pathogenic Glycogen storage disease, type V
Condition: not provided
Tip-toe gait		 Criteria Provided
Multiple Submitters
No Conflicts
 CA223900711 rs_1005687078

6 SubmittersRCV001062130RCV001557247RCV003319218
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) SNV
Germline		 Chr12:48132922 Pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA6536959 rs_138893744

4 SubmittersRCV001047427
NM_005609.4(PYGM):c.345+2T>A SNV
Germline		 Chr11:64758601 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381110856 rs_1219299972

4 SubmittersRCV001051949
NM_005609.4(PYGM):c.528+1G>A SNV
Germline		 Chr11:64758245 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381108740 rs_1262967083

1 SubmittersRCV001041989
NM_005609.4(PYGM):c.1769-1G>A SNV
Germline		 Chr11:64751656 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381170117 rs_2058357329

1 SubmittersRCV001068083
NM_002863.5(PYGL):c.1620+1G>T SNV
Germline		 Chr14:50913028 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389686048 rs_113993981

1 SubmittersRCV001053056
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter) SNV
Germline		 Chr11:64751970 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381170552 rs_119103260

2 SubmittersRCV001091630RCV005049766
NM_005609.4(PYGM):c.2322C>T (p.Val774=) SNV
Germline		 Chr11:64746978 Conflicting classifications of pathogenicity Glycogen storage disease, type V
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA223894768 rs_1045215677

3 SubmittersRCV001105986RCV003945813
NM_005609.4(PYGM):c.177C>T (p.Thr59=) SNV
Germline		 Chr11:64759722 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080353 rs_753355735

2 SubmittersRCV001105034
NM_005609.4(PYGM):c.1769-7T>C SNV
Germline		 Chr11:64751662 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA1139662015 rs_2058357396

3 SubmittersRCV001103027
NM_005609.4(PYGM):c.1092+15C>T SNV
Germline		 Chr11:64754238 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA599803412 rs_1319046232

2 SubmittersRCV001106095
NM_000289.6(PFKM):c.864A>G (p.Gly288=) SNV
Germline		 Chr12:48135311 Conflicting classifications of pathogenicity Glycogen storage disease, type VII Criteria Provided
Conflicting Classifications
 CA479452894 rs_1313998695

2 SubmittersRCV001110465
NM_002863.5(PYGL):c.1617G>A (p.Lys539=) SNV
Germline		 Chr14:50913032 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
PYGL-related disorder		 Criteria Provided
Conflicting Classifications
 CA7183419 rs_17721570

3 SubmittersRCV001113834RCV003898106
NM_002863.5(PYGL):c.1768+10C>T SNV
Germline		 Chr14:50912146 Conflicting classifications of pathogenicity Glycogen storage disease, type VI Criteria Provided
Conflicting Classifications
 CA7183359 rs_780893472

2 SubmittersRCV001112492
NM_002863.5(PYGL):c.2177+2T>C SNV
Unknown		 Chr14:50909893 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389681901 rs_1368182301

1 SubmittersRCV001199242
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter) SNV
Germline		 Chr11:64747337 Pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6079603 rs_140102591

2 SubmittersRCV001211508
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) SNV
Germline		 Chr11:64750442 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381167696 rs_1483102315

3 SubmittersRCV001204475
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro) SNV
Germline		 Chr11:64751932 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6079765 rs_761438921

3 SubmittersRCV001202839
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) SNV
Germline		 Chr11:64759792 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA381112838 rs_1394188143

4 SubmittersRCV001205755
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro) SNV
Germline		 Chr14:50915405 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Multiple Submitters
No Conflicts
 CA389687670 rs_2050437440

3 SubmittersRCV001211148
NM_000289.6(PFKM):c.936+1G>A SNV
Germline		 Chr12:48135384 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384545981 rs_1949974650

1 SubmittersRCV001215639
NM_000289.6(PFKM):c.1500+1G>A SNV
Germline		 Chr12:48141828 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA6537367 rs_770066278

4 SubmittersRCV001215088
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr) SNV
Germline		 Chr14:50911868 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389683902 rs_767847163

1 SubmittersRCV001231964
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) SNV
Germline		 Chr11:64757859 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6080199 rs_376581557

4 SubmittersRCV001239256RCV001751473
NM_005609.4(PYGM):c.2T>C (p.Met1Thr) SNV
Germline		 Chr11:64759897 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381113497 rs_2058423391

2 SubmittersRCV001244574
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu) SNV
Germline		 Chr11:64750471 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381167861 rs_773543072

2 SubmittersRCV001267843
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) SNV
Germline		 Chr11:64747354 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6079607 rs_200058475

5 SubmittersRCV001280465RCV003883598
NM_005609.4(PYGM):c.1403+5G>A SNV
Germline		 Chr11:64753514 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6079885 rs_373040789

5 SubmittersRCV001280472RCV001571343
NM_005609.4(PYGM):c.661-599G>T SNV
Germline		 Chr11:64756157 Conflicting classifications of pathogenicity Glycogen storage disease, type V
PYGM-related disorder		 No Assertion Criteria Provided
 CA223902240 rs_963364351

2 SubmittersRCV001277991RCV003945957
NM_000289.6(PFKM):c.1063-6C>A SNV
Germline		 Chr12:48139279 Conflicting classifications of pathogenicity Glycogen storage disease, type VII Criteria Provided
Conflicting Classifications
 CA6537205 rs_371033104

3 SubmittersRCV001286776
NM_002863.5(PYGL):c.1620+1G>C SNV
Germline		 Chr14:50913028 Pathogenic Glycogen storage disease, type VI Criteria Provided
Multiple Submitters
No Conflicts
 CA7183418 rs_113993981

6 SubmittersRCV001293797
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys) SNV
Germline		 Chr14:50944332 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389699663 rs_1375868904

1 SubmittersRCV001293798
NM_002863.5(PYGL):c.528+2T>C SNV
Unknown		 Chr14:50931671 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389695344 rs_1243388778

1 SubmittersRCV001330995
NM_005609.4(PYGM):c.1092+1G>C SNV
Germline		 Chr11:64754252 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381176935 rs_749560316

1 SubmittersRCV001379674
NM_005609.4(PYGM):c.855+1G>A SNV
Germline		 Chr11:64755272 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381179406 rs_2135836123

2 SubmittersRCV001376828
NM_005609.4(PYGM):c.773-1G>C SNV
Germline		 Chr11:64755356 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381179938 rs_2135836264

1 SubmittersRCV001378761
NM_005609.4(PYGM):c.244-1G>A SNV
Germline		 Chr11:64758705 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381111639 rs_2135840980

1 SubmittersRCV001379809
NM_000289.6(PFKM):c.159+1G>T SNV
Germline		 Chr12:48130437 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA384539021 rs_1305706304

4 SubmittersRCV001378843
NM_000289.6(PFKM):c.1127+1G>T SNV
Germline		 Chr12:48139350 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384548523 rs_2135976459

1 SubmittersRCV001379631
NM_005609.4(PYGM):c.1403+1G>A SNV
Germline		 Chr11:64753518 Pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381175598 rs_1191939323

4 SubmittersRCV001382415
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) SNV
Germline		 Chr11:64753999 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381176806 rs_2058377004

3 SubmittersRCV001381049
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter) SNV
Germline		 Chr11:64755538 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381180522 rs_377503100

1 SubmittersRCV001386380
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter) SNV
Germline		 Chr11:64759674 Pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6080339 rs_773361937

3 SubmittersRCV001382416
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter) SNV
Germline		 Chr12:48131321 Pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384539186 rs_2135856711

1 SubmittersRCV001387775
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) SNV
Germline		 Chr12:48132928 Conflicting classifications of pathogenicity Glycogen storage disease, type VII
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6536960 rs_374547385

4 SubmittersRCV001385034RCV005411737
NM_000289.6(PFKM):c.1413-64A>G SNV
Germline		 Chr12:48141676 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA689496879 rs_1202417178

2 SubmittersRCV001387777
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter) SNV
Germline		 Chr14:50912198 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA7183373 rs_774646420

1 SubmittersRCV001390321
NM_005609.4(PYGM):c.1546C>T (p.Leu516=) SNV
Germline		 Chr11:64752477 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079814 rs_767703629

2 SubmittersRCV001399489
NM_005609.4(PYGM):c.1614G>A (p.Val538=) SNV
Germline		 Chr11:64752409 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079801 rs_747854789

2 SubmittersRCV001446799
NM_005609.4(PYGM):c.183C>T (p.Arg61=) SNV
Germline		 Chr11:64759716 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA475161306 rs_1182278359

2 SubmittersRCV001435536
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala) SNV
Germline		 Chr14:50910091 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
PYGL-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7183257 rs_142483613

3 SubmittersRCV001427807RCV004753319RCV002261362
NM_005609.4(PYGM):c.1881C>T (p.Ile627=) SNV
Germline		 Chr11:64751413 Conflicting classifications of pathogenicity Glycogen storage disease, type V
PYGM-related disorder		 Criteria Provided
Conflicting Classifications
 CA6079686 rs_369361532

3 SubmittersRCV001459982RCV003938822
NM_005609.4(PYGM):c.1905G>A (p.Pro635=) SNV
Germline		 Chr11:64751389 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079679 rs_759582306

2 SubmittersRCV001489353
NM_005609.4(PYGM):c.110A>G (p.His37Arg) SNV
Germline		 Chr11:64759789 Likely pathogenic Glycogen storage disease, type V No Assertion Criteria Provided
 CA381112828 rs_1170598133

1 SubmittersRCV001542478
NM_000289.6(PFKM):c.639-10C>G SNV
Germline		 Chr12:48134711 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type VII		 Criteria Provided
Conflicting Classifications
 CA2573053672 rs_2135915213

2 SubmittersRCV001761278RCV003600417
NM_005609.4(PYGM):c.1774A>T (p.Lys592Ter) SNV
Germline		 Chr11:64751650 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381170058 rs_2135830163

1 SubmittersRCV001784893
NM_005609.4(PYGM):c.1239+1G>T SNV
Germline		 Chr11:64753878 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381176232 rs_759657964

1 SubmittersRCV001783654
NM_005609.4(PYGM):c.1620+1G>A SNV
Germline		 Chr11:64752402 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381173419 rs_1256894448

3 SubmittersRCV001783655
NM_005609.4(PYGM):c.1315C>T (p.Arg439Cys) SNV
Germline		 Chr11:64753607 Conflicting classifications of pathogenicity Tip-toe gait
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6079917 rs_758774720

2 SubmittersRCV001849247RCV002543428
NM_005609.4(PYGM):c.1354G>A (p.Ala452Thr) SNV
Germline		 Chr11:64753568 Conflicting classifications of pathogenicity Tip-toe gait
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6079905 rs_746021869

2 SubmittersRCV001849580RCV003603110
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln) SNV
Germline		 Chr11:64751983 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6079774 rs_143550601

3 SubmittersRCV002046146
NM_005609.4(PYGM):c.1009C>T (p.Gln337Ter) SNV
Germline		 Chr11:64754336 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381177255 rs_2135834746

1 SubmittersRCV001941724
NM_005609.4(PYGM):c.1828-2A>G SNV
Germline		 Chr11:64751468 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381169521 rs_2135829883

1 SubmittersRCV001963967
NM_005609.4(PYGM):c.1519-1G>A SNV
Germline		 Chr11:64752505 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381174286 rs_2135831491

1 SubmittersRCV002019558
NM_002863.5(PYGL):c.743G>A (p.Arg248Gln) SNV
Germline		 Chr14:50920985 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7183698 rs_776101957

2 SubmittersRCV001943603RCV004044075
NM_005609.4(PYGM):c.734G>A (p.Trp245Ter) SNV
Germline		 Chr11:64755485 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381180240 rs_2135836483

1 SubmittersRCV001993352
NM_000289.6(PFKM):c.237+1G>C SNV
Germline		 Chr12:48131394 Pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384539750 rs_202143236

1 SubmittersRCV002002423
NM_005609.4(PYGM):c.569G>A (p.Trp190Ter) SNV
Germline		 Chr11:64757870 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381107926 rs_2135839308

1 SubmittersRCV002002518
NM_005609.4(PYGM):c.2177+1G>A SNV
Germline		 Chr11:64750375 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA6079625 rs_751875471

4 SubmittersRCV001968726
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) SNV
Germline		 Chr12:48140824 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA6537302 rs_41291965

2 SubmittersRCV001906465
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) SNV
Germline		 Chr12:48134818 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA236511265 rs_866904446

2 SubmittersRCV001939132
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter) SNV
Germline		 Chr11:64757890 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381108021 rs_1223885403

3 SubmittersRCV001937863
NM_000289.6(PFKM):c.1062+2T>C SNV
Germline		 Chr12:48137848 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384547630 rs_2135957798

1 SubmittersRCV001983899
NM_005609.4(PYGM):c.346-20T>G SNV
Germline		 Chr11:64758535 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA223888420 rs_1025560272

2 SubmittersRCV002209405
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) SNV
Germline		 Chr11:64751620 Pathogenic/Likely pathogenic Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6079731 rs_750195683

4 SubmittersRCV004700693RCV003089156
NM_002863.5(PYGL):c.1404-1G>A SNV
Germline		 Chr14:50914816 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA7183463 rs_750567664

1 SubmittersRCV002250285
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) SNV
Germline		 Chr11:64753559 Conflicting classifications of pathogenicity Condition: not provided
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications
 CA6079898 rs_201042910

4 SubmittersRCV002251610RCV003094092
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter) SNV
Unknown		 Chr12:48135314 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384545708 rs_2498389929

1 SubmittersRCV002306819
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter) SNV
Unknown		 Chr12:48141786 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384551862 rs_2498573323

1 SubmittersRCV002309600
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter) SNV
Unknown		 Chr12:48141327 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384551044 rs_2498556494

1 SubmittersRCV002309642
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter) SNV
Unknown		 Chr12:48140729 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384550363 rs_773001987

1 SubmittersRCV002308102
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter) SNV
Germline		 Chr12:48140851 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA384550798 rs_2498539706

2 SubmittersRCV002309296
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter) SNV
Unknown		 Chr12:48139866 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384548866 rs_760569139

1 SubmittersRCV002306908
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter) SNV
Unknown		 Chr12:48131340 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384539305 rs_762942366

1 SubmittersRCV002310337
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter) SNV
Unknown		 Chr12:48144070 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA384554901 rs_1193700814

2 SubmittersRCV002310548
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val) SNV
Germline		 Chr14:50911985 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389684858 rs_754629447

1 SubmittersRCV002444366
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu) SNV
Germline		 Chr14:50909988 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389682369 rs_2503486792

1 SubmittersRCV002444368
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly) SNV
Germline		 Chr14:50905453 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389678908 rs_2503479112

1 SubmittersRCV002444369
NM_002863.5(PYGL):c.472T>C (p.Tyr158His) SNV
Germline		 Chr14:50931729 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389695687 rs_2503523725

1 SubmittersRCV002444370
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln) SNV
Germline		 Chr12:48130393 Likely pathogenic Glycogen storage disease, type VII
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6536889 rs_121918193

3 SubmittersRCV003062509RCV004790329
NM_005609.4(PYGM):c.1769G>A (p.Arg590His) SNV
Germline		 Chr11:64751655 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA223898669 rs_115942812

2 SubmittersRCV003062396
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln) SNV
Germline		 Chr11:64753122 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381175038 rs_1592410540

2 SubmittersRCV003058322
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp) SNV
Germline		 Chr11:64757825 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080190 rs_375724338

2 SubmittersRCV003062398
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile) SNV
Germline		 Chr12:48145677 Conflicting classifications of pathogenicity Glycogen storage disease, type VII
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6537584 rs_201190252

3 SubmittersRCV003078207RCV005382547
NM_000289.6(PFKM):c.1062+1G>A SNV
Germline		 Chr12:48137847 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA6537183 rs_766042700

2 SubmittersRCV003077821
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter) SNV
Germline		 Chr12:48142935 Pathogenic/Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA384554557 rs_1392144132

3 SubmittersRCV002633476
NM_000289.6(PFKM):c.1412+1G>T SNV
Germline		 Chr12:48141382 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA384551467 rs_1950563032

2 SubmittersRCV003115091
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg) SNV
Germline		 Chr11:64758458 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381109644 rs_780246932

1 SubmittersRCV002580223
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter) SNV
Germline		 Chr14:50914744 Pathogenic Glycogen storage disease, type VI
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260826175 rs_1042609342

2 SubmittersRCV002657862RCV005250254
NM_005609.4(PYGM):c.772+1G>T SNV
Germline		 Chr11:64755446 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381179972 rs_2496663759

1 SubmittersRCV002705561
NM_005609.4(PYGM):c.1969+1G>A SNV
Germline		 Chr11:64751324 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381168508 rs_753181427

3 SubmittersRCV002751300
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro) SNV
Germline		 Chr11:64747320 Conflicting classifications of pathogenicity Glycogen storage disease, type V
Rhabdomyolysis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA223894962 rs_370144967

3 SubmittersRCV002800114RCV003409926RCV004958759
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter) SNV
Germline		 Chr14:50923982 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389692888 rs_2503512754

1 SubmittersRCV002805725
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter) SNV
Germline		 Chr14:50931687 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389695440 rs_2050602182

1 SubmittersRCV002790488
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter) SNV
Germline		 Chr12:48137841 Pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384547572 rs_2498458835

2 SubmittersRCV002844028
NM_000289.6(PFKM):c.1192-2A>G SNV
Germline		 Chr12:48140720 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384550341 rs_1316130438

1 SubmittersRCV002857659
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His) SNV
Germline		 Chr14:50908936 Conflicting classifications of pathogenicity Glycogen storage disease, type VI Criteria Provided
Conflicting Classifications
 CA7183177 rs_141992300

2 SubmittersRCV002928340
NM_000289.6(PFKM):c.1341+1G>C SNV
Germline		 Chr12:48140872 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384550863 rs_755419857

1 SubmittersRCV002949644
NM_002863.5(PYGL):c.2062C>G (p.Leu688Val) SNV
Germline		 Chr14:50910010 Conflicting classifications of pathogenicity Glycogen storage disease, type VI
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7183235 rs_138483823

2 SubmittersRCV002979561RCV004065256
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile) SNV
Germline		 Chr11:64753655 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6079932 rs_201389731

4 SubmittersRCV002963093
NM_005609.4(PYGM):c.1970-2A>C SNV
Germline		 Chr11:64750585 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381168364 rs_1064797157

1 SubmittersRCV002988528
NM_005609.4(PYGM):c.1545C>T (p.Asp515=) SNV
Germline		 Chr11:64752478 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA474959103 rs_1229595545

2 SubmittersRCV002998798
NM_005609.4(PYGM):c.660+17G>A SNV
Germline		 Chr11:64757762 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080177 rs_767910783

2 SubmittersRCV003002512
NM_000289.6(PFKM):c.936+2T>G SNV
Germline		 Chr12:48135385 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA236511535 rs_112163675

3 SubmittersRCV003045184
NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter) SNV
Germline		 Chr11:64759671 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381111913 rs_2496674822

1 SubmittersRCV003045214
NM_005609.4(PYGM):c.648G>A (p.Trp216Ter) SNV
Germline		 Chr11:64757791 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381107438 rs_2496668328

1 SubmittersRCV003034713
NM_005609.4(PYGM):c.2380-2A>G SNV
Germline		 Chr11:64746810 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381164038 rs_2496636643

1 SubmittersRCV003049784
NM_002863.5(PYGL):c.361G>T (p.Glu121Ter) SNV
Germline		 Chr14:50935170 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389696946 rs_2503527861

1 SubmittersRCV003133740
NM_000289.6(PFKM):c.238-3A>G SNV
Germline		 Chr12:48132865 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA479696986 rs_1308946694

4 SubmittersRCV003134804
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe) SNV
Germline		 Chr11:64758701 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA6080320 rs_761616685

2 SubmittersRCV003130371
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val) SNV
Germline		 Chr11:64750532 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA381168082 rs_1413827545

2 SubmittersRCV003142698
NM_002863.5(PYGL):c.916C>T (p.Gln306Ter) SNV
Germline		 Chr14:50917045 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389690252 rs_2503501168

1 SubmittersRCV003340711
NM_002863.5(PYGL):c.528+1G>A SNV
Germline		 Chr14:50931672 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389695353 rs_1170047320

1 SubmittersRCV003388773
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp) SNV
Germline		 Chr11:64753123 Conflicting classifications of pathogenicity PYGM-related disorder
Glycogen storage disease, type V
not specified		 Criteria Provided
Conflicting Classifications
 CA6079852 rs_765612286

4 SubmittersRCV003412504RCV003459860RCV004765835
NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter) SNV
Germline		 Chr14:50912202 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389685521 rs_2503490903

1 SubmittersRCV003445311
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter) SNV
Unknown		 Chr11:64755484 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381180237 rs_779706675

1 SubmittersRCV003471758
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys) SNV
Germline		 Chr11:64754300 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381177087 rs_2496659888

3 SubmittersRCV003463411
NM_005609.4(PYGM):c.2177+1G>T SNV
Germline		 Chr11:64750375 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381167477 rs_751875471

3 SubmittersRCV003463413
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp) SNV
Unknown		 Chr11:64750574 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381168316 rs_2496648756

1 SubmittersRCV003471759
NM_005609.4(PYGM):c.1828-1G>T SNV
Unknown		 Chr11:64751467 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381169505 rs_1394587447

1 SubmittersRCV003471760
NM_005609.4(PYGM):c.772+2T>A SNV
Unknown		 Chr11:64755445 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381179970 rs_2496663754

1 SubmittersRCV003463414
NM_005609.4(PYGM):c.1093-2A>T SNV
Unknown		 Chr11:64754027 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381176921 rs_2496659071

1 SubmittersRCV003463415
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter) SNV
Germline		 Chr11:64753116 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381174961 rs_2496655165

2 SubmittersRCV003471761
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter) SNV
Unknown		 Chr11:64754803 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381179073 rs_1358384674

1 SubmittersRCV003463416
NM_005609.4(PYGM):c.1969+1G>C SNV
Unknown		 Chr11:64751324 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA6079666 rs_753181427

1 SubmittersRCV003463419
NM_005609.4(PYGM):c.2313-1G>A SNV
Unknown		 Chr11:64746988 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381164728 rs_2496637644

1 SubmittersRCV003463423
NM_005609.4(PYGM):c.2379+1G>A SNV
Unknown		 Chr11:64746920 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381164098 rs_1295688123

1 SubmittersRCV003463425
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg) SNV
Germline		 Chr11:64754335 Conflicting classifications of pathogenicity Glycogen storage disease, type V
not specified		 Criteria Provided
Conflicting Classifications
 CA381177246 rs_1223701129

3 SubmittersRCV003471763RCV005407163
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter) SNV
Germline		 Chr11:64758269 Pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381108876 rs_1278522566

2 SubmittersRCV003463427
NM_005609.4(PYGM):c.999+1G>A SNV
Unknown		 Chr11:64754692 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA6080054 rs_778749893

1 SubmittersRCV003471765
NM_005609.4(PYGM):c.1828-1G>A SNV
Unknown		 Chr11:64751467 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381169518 rs_1394587447

1 SubmittersRCV003471766
NM_000289.6(PFKM):c.86-1G>C SNV
Unknown		 Chr12:48130362 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384538629 rs_754826643

1 SubmittersRCV003476869
NM_000289.6(PFKM):c.1341+1G>A SNV
Unknown		 Chr12:48140872 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384550862 rs_755419857

1 SubmittersRCV003476871
NM_000289.6(PFKM):c.160-1G>C SNV
Germline		 Chr12:48131315 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA384539133 rs_1282065754

2 SubmittersRCV003472431
NM_000289.6(PFKM):c.-8-2A>G SNV
Unknown		 Chr12:48122765 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA6536822 rs_559443040

1 SubmittersRCV003472432
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter) SNV
Unknown		 Chr12:48133025 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384542441 rs_1335397957

1 SubmittersRCV003472433
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter) SNV
Unknown		 Chr12:48135006 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384545433 rs_2498378481

1 SubmittersRCV003472435
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys) SNV
Germline		 Chr12:48133426 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384543433 rs_2498313549

2 SubmittersRCV003472436
NM_000289.6(PFKM):c.1500+2T>A SNV
Unknown		 Chr12:48141829 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384552202 rs_2498574816

1 SubmittersRCV003472437
NM_005609.4(PYGM):c.3G>A (p.Met1Ile) SNV
Germline		 Chr11:64759896 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381113489 rs_2496676087

1 SubmittersRCV003498270
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter) SNV
Germline		 Chr12:48141753 Pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384551605 rs_1456151637

1 SubmittersRCV003496212
NM_005609.4(PYGM):c.424+1G>T SNV
Germline		 Chr11:64758436 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381109514 rs_2496670715

2 SubmittersRCV003499518
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala) SNV
Germline		 Chr12:48142900 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384554391 rs_745375312

1 SubmittersRCV003494673
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg) SNV
Germline		 Chr11:64753559 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA6079899 rs_201042910

1 SubmittersRCV003499971
NM_005609.4(PYGM):c.470G>T (p.Gly157Val) SNV
Germline		 Chr11:64758304 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381109180 rs_2058407754

1 SubmittersRCV003499973
NM_005609.4(PYGM):c.424+1G>A SNV
Germline		 Chr11:64758436 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381109520 rs_2496670715

1 SubmittersRCV003498403
NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter) SNV
Germline		 Chr14:50915836 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA389688330 rs_2503498157

1 SubmittersRCV003625259
NM_000289.6(PFKM):c.1653+2T>G SNV
Germline		 Chr12:48142068 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384553425 rs_2498583246

1 SubmittersRCV003601518
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter) SNV
Germline		 Chr12:48133476 Pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384543807 rs_2498315567

1 SubmittersRCV003601741
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro) SNV
Germline		 Chr11:64753122 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381175035 rs_1592410540

1 SubmittersRCV003604307
NM_000289.6(PFKM):c.1342-1G>C SNV
Germline		 Chr12:48141310 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384550919 rs_2498556144

1 SubmittersRCV003601670
NM_000289.6(PFKM):c.594-1G>A SNV
Germline		 Chr12:48134231 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384544023 rs_2498343608

1 SubmittersRCV003602197
NM_005609.4(PYGM):c.1620+1G>T SNV
Germline		 Chr11:64752402 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381173415 rs_1256894448

1 SubmittersRCV003604446
NM_000289.6(PFKM):c.1992+1G>T SNV
Germline		 Chr12:48144158 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384555186 rs_2498652283

1 SubmittersRCV003602342
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu) SNV
Germline		 Chr11:64750496 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381167970 rs_2496648421

1 SubmittersRCV003604849
NM_005609.4(PYGM):c.528+1G>T SNV
Germline		 Chr11:64758245 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381108736 rs_1262967083

1 SubmittersRCV003602547
NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter) SNV
Germline		 Chr11:64757881 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381107971 rs_144298015

1 SubmittersRCV003602569
NM_000289.6(PFKM):c.1128-2A>G SNV
Germline		 Chr12:48139847 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts
 CA384548688 rs_111397747

2 SubmittersRCV003600010
NM_000289.6(PFKM):c.638+1G>T SNV
Germline		 Chr12:48134277 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA6537057 rs_766350964

1 SubmittersRCV003600192
NM_002863.5(PYGL):c.1970-7C>G SNV
Germline		 Chr14:50910109 Conflicting classifications of pathogenicity Glycogen storage disease, type VI Criteria Provided
Conflicting Classifications
 CA7183259 rs_773029579

2 SubmittersRCV003624160
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly) SNV
Germline		 Chr11:64758446 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA6080265 rs_367990192

1 SubmittersRCV003602843
NM_000289.6(PFKM):c.2092+2T>C SNV
Germline		 Chr12:48145132 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA384555942 rs_2498679839

1 SubmittersRCV003600921
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter) SNV
Germline		 Chr11:64757781 Pathogenic/Likely pathogenic Glycogen storage disease, type V Criteria Provided
Multiple Submitters
No Conflicts
 CA381107368 rs_753533515

2 SubmittersRCV003836283
NM_005609.4(PYGM):c.346-5T>G SNV
Germline		 Chr11:64758520 Conflicting classifications of pathogenicity Glycogen storage disease, type V Criteria Provided
Conflicting Classifications
 CA223888404 rs_1016613332

2 SubmittersRCV003847717
NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter) SNV
Germline		 Chr11:64750557 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381168208 rs_119103256

1 SubmittersRCV003851037
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp) SNV
Germline		 Chr11:64750470 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 CA381167853 rs_768604948

1 SubmittersRCV003861695
NM_000289.6(PFKM):c.1412+2T>C SNV
Germline		 Chr12:48141383 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 CA6537337 rs_113097435

1 SubmittersRCV003853737
NM_000289.6(PFKM):c.843+5G>A SNV
Germline		 Chr12:48135043 Conflicting classifications of pathogenicity PFKM-related disorder
Glycogen storage disease, type VII		 No Assertion Criteria Provided
 CA6537112 rs_759413488

2 SubmittersRCV003974449RCV005622262
NM_002863.5(PYGL):c.1240-2A>G SNV
Germline		 Chr14:50915501 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter
 CA7183512 rs_768485828

1 SubmittersRCV003989191
NM_000289.6(PFKM):c.85+1G>A SNV
Unknown		 Chr12:48122860 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 rs_1300079699

1 SubmittersRCV004574526
NM_000289.6(PFKM):c.166C>T (p.Gln56Ter) SNV
Unknown		 Chr12:48131322 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter
 rs_2540869432

1 SubmittersRCV004574527
NM_005609.4(PYGM):c.1098G>A (p.Trp366Ter) SNV
Unknown		 Chr11:64754020 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 rs_1477931501

1 SubmittersRCV004574655
NM_005609.4(PYGM):c.2181C>G (p.Tyr727Ter) SNV
Unknown		 Chr11:64747355 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 rs_751710019

1 SubmittersRCV004574657
NM_005609.4(PYGM):c.1093-1G>C SNV
Unknown		 Chr11:64754026 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 rs_1163710370

1 SubmittersRCV004574662
NM_005609.4(PYGM):c.2356G>T (p.Glu786Ter) SNV
Unknown		 Chr11:64746944 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter
 rs_2496637381

1 SubmittersRCV004574665
NM_005609.4(PYGM):c.2430C>T (p.Gly810=) SNV
Germline		 Chr11:64746758 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690622RCV005051465
NM_005609.4(PYGM):c.1629G>T (p.Lys543Asn) SNV
Germline		 Chr11:64752063 Conflicting classifications of pathogenicity not specified
Glycogen storage disease, type V		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004699913RCV005051469
NM_005609.4(PYGM):c.613G>T (p.Gly205Cys) SNV
Germline		 Chr11:64757826 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV004764489
NM_000289.6(PFKM):c.626G>A (p.Gly209Asp) SNV
Germline		 Chr12:48134264 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004782090
NM_002863.5(PYGL):c.730C>T (p.Leu244Phe) SNV
Germline		 Chr14:50920998 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter

1 SubmittersRCV004800850
NM_005609.4(PYGM):c.1519-3T>G SNV
Germline		 Chr11:64752507 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV004810738
NM_002863.5(PYGL):c.2181C>G (p.Tyr727Ter) SNV
Germline		 Chr14:50908952 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter

1 SubmittersRCV005005639
NM_002863.5(PYGL):c.424+1G>C SNV
Germline		 Chr14:50935106 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter

1 SubmittersRCV005005640
NM_000289.6(PFKM):c.1607C>G (p.Ser536Ter) SNV
Germline		 Chr12:48142020 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter

1 SubmittersRCV005009102
NM_005609.4(PYGM):c.1970-1G>C SNV
Germline		 Chr11:64750584 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005050980
NM_005609.4(PYGM):c.1519-2A>G SNV
Germline		 Chr11:64752506 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005050991
NM_005609.4(PYGM):c.1404-1G>C SNV
Germline		 Chr11:64753188 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005050996
NM_005609.4(PYGM):c.548G>A (p.Trp183Ter) SNV
Germline		 Chr11:64757891 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005051022
NM_005609.4(PYGM):c.243+1G>T SNV
Germline		 Chr11:64759655 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005051033
NM_005609.4(PYGM):c.2392T>G (p.Trp798Gly) SNV
Germline		 Chr11:64746796 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005088170
NM_005609.4(PYGM):c.2313-2A>G SNV
Germline		 Chr11:64746989 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005088383
NM_000289.6(PFKM):c.732T>A (p.Cys244Ter) SNV
Germline		 Chr12:48134814 Pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter

1 SubmittersRCV005119724
NM_000289.6(PFKM):c.1412+1G>A SNV
Germline		 Chr12:48141382 Likely pathogenic Glycogen storage disease, type VII Criteria Provided
Single Submitter

1 SubmittersRCV005116320
NM_002863.5(PYGL):c.808C>T (p.Arg270Ter) SNV
Germline		 Chr14:50920588 Pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter

1 SubmittersRCV005200854
NM_005609.4(PYGM):c.773-2A>T SNV
Germline		 Chr11:64755357 Pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005202897
NM_002863.5(PYGL):c.843T>A (p.Tyr281Ter) SNV
Germline		 Chr14:50920553 Likely pathogenic Glycogen storage disease, type VI Criteria Provided
Single Submitter

1 SubmittersRCV005356715
NM_005609.4(PYGM):c.107T>C (p.Leu36Pro) SNV
Germline		 Chr11:64759792 Likely pathogenic Glycogen storage disease, type V No Assertion Criteria Provided

1 SubmittersRCV005607777
NM_005609.4(PYGM):c.1094C>A (p.Ala365Glu) SNV
Germline		 Chr11:64754024 Likely pathogenic Glycogen storage disease, type V No Assertion Criteria Provided

1 SubmittersRCV005607792
NM_005609.4(PYGM):c.1951G>C (p.Val651Leu) SNV
Unknown		 Chr11:64751343 Likely pathogenic Glycogen storage disease, type V Criteria Provided
Single Submitter

1 SubmittersRCV005624250