Total 140 pathogenic variants reported for Glycogen storage disease, type VII 
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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