PYGM (glycogen phosphorylase, muscle associated) - Rat Genome Database

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Gene: PYGM (glycogen phosphorylase, muscle associated) Homo sapiens
Analyze
Symbol: PYGM
Name: glycogen phosphorylase, muscle associated
RGD ID: 737329
HGNC Page HGNC:9726
Description: Enables glycogen phosphorylase activity. Involved in glycogen catabolic process. Located in extracellular exosome. Implicated in glycogen storage disease V.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glycogen phosphorylase, muscle form; GSD5; muscle glycogen phosphorylase; myophosphorylase; phosphorylase, glycogen, muscle; phosphorylase, glycogen, muscle (McArdle syndrome, glycogen storage disease type V)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381164,746,389 - 64,760,715 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1164,746,389 - 64,759,974 (-)EnsemblGRCh38hg38GRCh38
GRCh371164,513,861 - 64,528,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361164,270,606 - 64,284,763 (-)NCBINCBI36Build 36hg18NCBI36
Build 341164,270,605 - 64,284,763NCBI
Celera1161,840,305 - 61,854,685 (-)NCBICelera
Cytogenetic Map11q13.1NCBI
HuRef1160,840,630 - 60,855,032 (-)NCBIHuRef
CHM1_11164,397,556 - 64,411,957 (-)NCBICHM1_1
T2T-CHM13v2.01164,739,618 - 64,754,020 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2,5-hexanedione  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
astemizole  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
butanal  (EXP)
cantharidin  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
daunorubicin  (EXP)
decabromodiphenyl ether  (EXP,ISO)
dexamethasone  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (EXP,ISO)
ethanol  (ISO)
etoposide  (EXP)
fenvalerate  (ISO)
genistein  (ISO)
gentamycin  (ISO)
haloperidol  (EXP)
ketamine  (ISO)
lead diacetate  (ISO)
Licochalcone B  (EXP)
mercury dibromide  (EXP)
mitoxantrone  (EXP)
ochratoxin A  (ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
pioglitazone  (ISO)
potassium chromate  (EXP)
prednisone  (EXP)
progesterone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (EXP)
sodium fluoride  (ISO)
sodium nitrate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Structural relationships among regulated and unregulated phosphorylases. Buchbinder JL, etal., Annu Rev Biophys Biomol Struct. 2001;30:191-209.
2. Alteration of glycogen and glucose metabolism in ischaemic and post-ischaemic working rat hearts by adenosine A1 receptor stimulation. Fraser H, etal., Br J Pharmacol. 1999 Sep;128(1):197-205.
3. The content of glycogen phosphorylase and glycogen in preparations of sarcoplasmic reticulum-glycogenolytic complex is enhanced in diabetic rat skeletal muscle. Garduno E, etal., Diabetologia. 2001 Oct;44(10):1238-46.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Botulinum-induced muscle paralysis alters metabolic gene expression and fatigue recovery. Gorin F, etal., Am J Physiol. 1996 Jan;270(1 Pt 2):R238-45.
6. Glycogen phosphorylase: control by phosphorylation and allosteric effectors. Johnson LN FASEB J. 1992 Mar;6(6):2274-82.
7. Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation. Kubisch C, etal., Hum Mutat. 1998;12(1):27-32.
8. Hepatic and skeletal muscle glycogen metabolism in rats with short-term cholestasis. Lang C, etal., J Hepatol. 2002 Jan;36(1):22-9.
9. Gene expression profile of cardiomyocytes in hypertrophic heart induced by continuous norepinephrine infusion in the rats. Li P, etal., Cell Mol Life Sci. 2003 Oct;60(10):2200-9.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Glycogen-binding protein components of rat tissues. Satoh K and Sato K, Biochem Biophys Res Commun. 1980 Sep 16;96(1):28-33.
Additional References at PubMed
PMID:1150650   PMID:1701414   PMID:2461546   PMID:2703328   PMID:3447177   PMID:3466902   PMID:3840433   PMID:6797345   PMID:7603523   PMID:7744850   PMID:7958997   PMID:8316268  
PMID:8535454   PMID:9506549   PMID:10382911   PMID:10382912   PMID:10417800   PMID:10590419   PMID:10681080   PMID:10714589   PMID:10899452   PMID:11168025   PMID:11706962   PMID:11749054  
PMID:11983168   PMID:12031624   PMID:12398832   PMID:12477932   PMID:12549820   PMID:12640006   PMID:12804600   PMID:14662163   PMID:14702039   PMID:15489334   PMID:15979037   PMID:16083285  
PMID:16154688   PMID:16523484   PMID:16671104   PMID:16786513   PMID:17324573   PMID:17353931   PMID:17404776   PMID:17630210   PMID:17719780   PMID:17915571   PMID:17994553   PMID:18468620  
PMID:18808785   PMID:19251976   PMID:19433441   PMID:19472443   PMID:20301518   PMID:20360068   PMID:20957198   PMID:21658951   PMID:21768215   PMID:21802952   PMID:21873635   PMID:21880526  
PMID:22337875   PMID:22608882   PMID:23088536   PMID:23414517   PMID:23533145   PMID:23653251   PMID:24722188   PMID:25240406   PMID:25416956   PMID:25694429   PMID:25914343   PMID:25963833  
PMID:26344197   PMID:26913921   PMID:27156240   PMID:27433848   PMID:27525900   PMID:28120463   PMID:28514442   PMID:29859926   PMID:29872149   PMID:30011114   PMID:31091453   PMID:31180492  
PMID:31324732   PMID:31515488   PMID:31747538   PMID:32296183   PMID:32386344   PMID:32707033   PMID:32735634   PMID:33417871   PMID:33924466   PMID:33961781   PMID:35022222   PMID:35256949  
PMID:35945219   PMID:36215168   PMID:36217029  


Genomics

Comparative Map Data
PYGM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381164,746,389 - 64,760,715 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1164,746,389 - 64,759,974 (-)EnsemblGRCh38hg38GRCh38
GRCh371164,513,861 - 64,528,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361164,270,606 - 64,284,763 (-)NCBINCBI36Build 36hg18NCBI36
Build 341164,270,605 - 64,284,763NCBI
Celera1161,840,305 - 61,854,685 (-)NCBICelera
Cytogenetic Map11q13.1NCBI
HuRef1160,840,630 - 60,855,032 (-)NCBIHuRef
CHM1_11164,397,556 - 64,411,957 (-)NCBICHM1_1
T2T-CHM13v2.01164,739,618 - 64,754,020 (-)NCBIT2T-CHM13v2.0
Pygm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39196,434,438 - 6,448,494 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl196,434,429 - 6,448,489 (+)EnsemblGRCm39 Ensembl
GRCm38196,384,408 - 6,398,464 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl196,384,399 - 6,398,459 (+)EnsemblGRCm38mm10GRCm38
MGSCv37196,384,429 - 6,398,459 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36196,384,429 - 6,398,459 (+)NCBIMGSCv36mm8
Celera196,257,446 - 6,271,476 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.53NCBI
Pygm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21203,690,550 - 203,705,369 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1203,690,533 - 203,705,368 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1212,039,387 - 212,054,202 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01219,135,880 - 219,150,695 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01211,826,933 - 211,841,748 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01221,756,325 - 221,771,142 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1221,756,286 - 221,771,143 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01228,737,461 - 228,758,937 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41209,166,701 - 209,181,588 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11209,325,179 - 209,340,017 (+)NCBI
Celera1201,223,967 - 201,238,784 (+)NCBICelera
Cytogenetic Map1q43NCBI
Pygm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542220,411,480 - 20,424,931 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542220,411,480 - 20,424,676 (+)NCBIChiLan1.0ChiLan1.0
PYGM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11167,015,183 - 67,028,876 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01160,101,810 - 60,115,813 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11163,443,609 - 63,457,012 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1163,443,609 - 63,457,430 (-)Ensemblpanpan1.1panPan2
PYGM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11852,398,192 - 52,410,731 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1852,398,056 - 52,410,464 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1851,005,808 - 51,018,059 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01853,439,715 - 53,451,957 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1853,439,257 - 53,451,957 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11852,534,631 - 52,546,873 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01852,120,553 - 52,132,799 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01852,904,684 - 52,916,934 (+)NCBIUU_Cfam_GSD_1.0
Pygm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049478,108,815 - 8,121,764 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365994,551,032 - 4,564,154 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365994,551,164 - 4,564,109 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PYGM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl27,409,116 - 7,421,254 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.127,409,330 - 7,421,256 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.226,540,079 - 6,553,856 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PYGM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.119,474,539 - 9,490,612 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl19,475,622 - 9,491,500 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038106,864,368 - 106,879,692 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pygm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476721,626,740 - 21,640,161 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476721,626,740 - 21,639,963 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PYGM
927 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) single nucleotide variant Glycogen storage disease, type V [RCV001271475]|Inborn genetic diseases [RCV002527593]|not provided [RCV000519020] Chr11:64751369 [GRCh38]
Chr11:64518841 [GRCh37]
Chr11:11q13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala) single nucleotide variant Glycogen storage disease, type V [RCV003129885]|not provided [RCV000523949] Chr11:64751460 [GRCh38]
Chr11:64518932 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) single nucleotide variant Glycogen storage disease, type V [RCV001108320]|not provided [RCV000521120] Chr11:64755352 [GRCh38]
Chr11:64522824 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) single nucleotide variant Glycogen storage disease, type V [RCV000812757]|not provided [RCV000523818] Chr11:64758257 [GRCh38]
Chr11:64525729 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) single nucleotide variant Glycogen storage disease, type V [RCV000033140] Chr11:64759747 [GRCh38]
Chr11:64527219 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del) microsatellite Glycogen storage disease, type V [RCV000033141] Chr11:64759739..64759741 [GRCh38]
Chr11:64527211..64527213 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) single nucleotide variant Glycogen storage disease, type V [RCV000002388]|Inborn genetic diseases [RCV000622729]|Muscular atrophy [RCV001730469]|See cases [RCV002251857]|Tip-toe gait [RCV003319158]|not provided [RCV000081306] Chr11:64759751 [GRCh38]
Chr11:64527223 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) single nucleotide variant Glycogen storage disease, type V [RCV000002389]|not provided [RCV000414632] Chr11:64757826 [GRCh38]
Chr11:64525298 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) single nucleotide variant Glycogen storage disease, type V [RCV000002390]|not provided [RCV000723828] Chr11:64752064 [GRCh38]
Chr11:64519536 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
PYGM, MET1GLY variation Glycogen storage disease, type V [RCV000002391] Chr11:11q13 pathogenic
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) single nucleotide variant Glycogen storage disease, type V [RCV000002392] Chr11:64751331 [GRCh38]
Chr11:64518803 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) single nucleotide variant Glycogen storage disease, type V [RCV000002393] Chr11:64750557 [GRCh38]
Chr11:64518029 [GRCh37]
Chr11:11q13.1		 pathogenic|uncertain significance
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro) single nucleotide variant Glycogen storage disease, type V [RCV000002394] Chr11:64753931 [GRCh38]
Chr11:64521403 [GRCh37]
Chr11:11q13.1		 pathogenic
PYGM, IVS14, G-A, +1 deletion Glycogen storage disease, type V [RCV000002395] Chr11:11q13 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) single nucleotide variant Glycogen storage disease, type V [RCV000002396]|Tip-toe gait [RCV003319973]|not provided [RCV001091628] Chr11:64750497 [GRCh38]
Chr11:64517969 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) single nucleotide variant Glycogen storage disease, type V [RCV000002397]|not provided [RCV000578544] Chr11:64751966 [GRCh38]
Chr11:64519438 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005609.4(PYGM):c.1725del (p.Lys575fs) deletion Glycogen storage disease, type V [RCV000002398] Chr11:64751967 [GRCh38]
Chr11:64519439 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.1A>G (p.Met1Val) single nucleotide variant Glycogen storage disease, type V [RCV000002399]|not provided [RCV001579810] Chr11:64759898 [GRCh38]
Chr11:64527370 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter) single nucleotide variant Glycogen storage disease, type V [RCV000002400] Chr11:64752071 [GRCh38]
Chr11:64519543 [GRCh37]
Chr11:11q13.1		 pathogenic
PYGM, 1-BP INS, A/8-BP DEL, CODON 387 indel Glycogen storage disease, type V [RCV000002401] Chr11:11q13 pathogenic
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) single nucleotide variant Glycogen storage disease, type V [RCV000002402]|not provided [RCV000081312] Chr11:64746796 [GRCh38]
Chr11:64514268 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) single nucleotide variant Glycogen storage disease, type V [RCV000002403]|See cases [RCV002251858] Chr11:64751597 [GRCh38]
Chr11:64519069 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) single nucleotide variant Glycogen storage disease, type V [RCV000002404] Chr11:64751970 [GRCh38]
Chr11:64519442 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005609.4(PYGM):c.661-601G>A single nucleotide variant Glycogen storage disease, type V [RCV001851580]|McArdle disease, mild [RCV000002405] Chr11:64756159 [GRCh38]
Chr11:64523631 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.425-26A>G single nucleotide variant Glycogen storage disease, type V [RCV000454242]|McArdle disease, mild [RCV000002406]|not provided [RCV001564860] Chr11:64758375 [GRCh38]
Chr11:64525847 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) deletion Glycogen storage disease, type V [RCV000821091]|not provided [RCV000722868] Chr11:64758453..64758466 [GRCh38]
Chr11:64525925..64525938 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|uncertain significance
NM_005609.4(PYGM):c.576G>T (p.Lys192Asn) single nucleotide variant Tip-toe gait [RCV003319278] Chr11:64757863 [GRCh38]
Chr11:64525335 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.856-2A>C single nucleotide variant not provided [RCV000723129] Chr11:64754838 [GRCh38]
Chr11:64522310 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) single nucleotide variant Glycogen storage disease, type V [RCV000779073]|Tip-toe gait [RCV002221250]|not provided [RCV000727737] Chr11:64751619 [GRCh38]
Chr11:64519091 [GRCh37]
Chr11:11q13.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) single nucleotide variant Glycogen storage disease, type V [RCV000883987]|not provided [RCV001712669] Chr11:64750444 [GRCh38]
Chr11:64517916 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) single nucleotide variant Glycogen storage disease, type V [RCV000128547]|not provided [RCV000675636]|not specified [RCV000081303] Chr11:64753682 [GRCh38]
Chr11:64521154 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) single nucleotide variant Glycogen storage disease, type V [RCV000169330]|not provided [RCV000790687] Chr11:64753556 [GRCh38]
Chr11:64521028 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) single nucleotide variant Glycogen storage disease, type V [RCV001047041]|not provided [RCV000081305] Chr11:64753125 [GRCh38]
Chr11:64520597 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) single nucleotide variant Glycogen storage disease, type V [RCV000128550]|not provided [RCV000675633]|not specified [RCV000081307] Chr11:64753097 [GRCh38]
Chr11:64520569 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) single nucleotide variant Glycogen storage disease, type V [RCV001083176]|not provided [RCV000675631]|not specified [RCV000081308] Chr11:64752454 [GRCh38]
Chr11:64519926 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.1827+7A>G single nucleotide variant Glycogen storage disease, type V [RCV000316339]|not provided [RCV000509568]|not specified [RCV000081309] Chr11:64751590 [GRCh38]
Chr11:64519062 [GRCh37]
Chr11:11q13.1		 benign|not provided
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) single nucleotide variant Glycogen storage disease, type V [RCV000763760]|Tip-toe gait [RCV002227444]|not provided [RCV000723589] Chr11:64751337 [GRCh38]
Chr11:64518809 [GRCh37]
Chr11:11q13.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.2262del (p.Lys754fs) deletion Glycogen storage disease, type V [RCV000175318]|not provided [RCV000081311] Chr11:64747274 [GRCh38]
Chr11:64514746 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) single nucleotide variant Glycogen storage disease, type V [RCV001104843]|not provided [RCV000675627]|not specified [RCV000081313] Chr11:64746741 [GRCh38]
Chr11:64514213 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) single nucleotide variant Glycogen storage disease, type V [RCV000960580]|not provided [RCV001531738]|not specified [RCV000081314] Chr11:64757862 [GRCh38]
Chr11:64525334 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.645G>A (p.Lys215=) single nucleotide variant Glycogen storage disease, type V [RCV000128552]|Inborn genetic diseases [RCV003298135]|not provided [RCV000585529]|not specified [RCV000081315] Chr11:64757794 [GRCh38]
Chr11:64525266 [GRCh37]
Chr11:11q13.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.661-5C>G single nucleotide variant Glycogen storage disease, type V [RCV000317266]|not specified [RCV000081316] Chr11:64755563 [GRCh38]
Chr11:64523035 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.999+20C>T single nucleotide variant Glycogen storage disease, type V [RCV001510568]|not provided [RCV000723472]|not specified [RCV000238806] Chr11:64754673 [GRCh38]
Chr11:64522145 [GRCh37]
Chr11:11q13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.244-5G>T single nucleotide variant not specified [RCV000602758] Chr11:64758709 [GRCh38]
Chr11:64526181 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.522C>A (p.Gly174=) single nucleotide variant not specified [RCV000603007] Chr11:64758252 [GRCh38]
Chr11:64525724 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) single nucleotide variant Glycogen storage disease, type V [RCV000306631]|not provided [RCV000675638]|not specified [RCV000173815] Chr11:64753934 [GRCh38]
Chr11:64521406 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) single nucleotide variant Glycogen storage disease, type V [RCV000988570]|not provided [RCV001091629]|not specified [RCV000175189] Chr11:64750544 [GRCh38]
Chr11:64518016 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.1768+1G>A single nucleotide variant Glycogen storage disease, type V [RCV000763265]|Inborn genetic diseases [RCV000624349]|not provided [RCV000423322] Chr11:64751923 [GRCh38]
Chr11:64519395 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_005609.4(PYGM):c.182G>A (p.Arg61His) single nucleotide variant Glycogen storage disease, type V [RCV000664912]|not provided [RCV000828466]|not specified [RCV000173380] Chr11:64759717 [GRCh38]
Chr11:64527189 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1695C>T (p.Asp565=) single nucleotide variant Glycogen storage disease, type V [RCV002071104] Chr11:64751997 [GRCh38]
Chr11:64519469 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) single nucleotide variant Glycogen storage disease, type V [RCV000144425] Chr11:64759898 [GRCh38]
Chr11:64527370 [GRCh37]
Chr11:11q13.1		 pathogenic|not provided
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) single nucleotide variant Glycogen storage disease, type V [RCV001079321]|not provided [RCV000675637] Chr11:64753881 [GRCh38]
Chr11:64521353 [GRCh37]
Chr11:11q13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) single nucleotide variant Glycogen storage disease, type V [RCV001104930]|not provided [RCV000174112] Chr11:64753579 [GRCh38]
Chr11:64521051 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys) single nucleotide variant Glycogen storage disease, type V [RCV000128546] Chr11:64757875 [GRCh38]
Chr11:64525347 [GRCh37]
Chr11:11q13.1		 benign|not provided
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu) single nucleotide variant Glycogen storage disease, type V [RCV000128548] Chr11:64753633 [GRCh38]
Chr11:64521105 [GRCh37]
Chr11:11q13.1		 benign|not provided
NM_005609.4(PYGM):c.1365C>T (p.Gly455=) single nucleotide variant Glycogen storage disease, type V [RCV000128549] Chr11:64753557 [GRCh38]
Chr11:64521029 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) single nucleotide variant Glycogen storage disease, type V [RCV000128551] Chr11:64758693 [GRCh38]
Chr11:64526165 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) microsatellite Glycogen storage disease, type V [RCV000128553] Chr11:64750423..64750425 [GRCh38]
Chr11:64517895..64517897 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) single nucleotide variant Glycogen storage disease, type V [RCV000509394]|Tip-toe gait [RCV001849178]|not provided [RCV000675632] Chr11:64752486 [GRCh38]
Chr11:64519958 [GRCh37]
Chr11:11q13.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005609.4(PYGM):c.2147T>G (p.Val716Gly) single nucleotide variant not provided [RCV000175190] Chr11:64750406 [GRCh38]
Chr11:64517878 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) single nucleotide variant Glycogen storage disease, type V [RCV002516665]|not provided [RCV000175191] Chr11:64750529 [GRCh38]
Chr11:64518001 [GRCh37]
Chr11:11q13.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) single nucleotide variant Glycogen storage disease, type V [RCV000370261]|not provided [RCV000723895] Chr11:64755280 [GRCh38]
Chr11:64522752 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) single nucleotide variant Glycogen storage disease, type V [RCV000328314]|not provided [RCV001721109]|not specified [RCV000176082] Chr11:64746806 [GRCh38]
Chr11:64514278 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) deletion Glycogen storage disease, type V [RCV000169106]|not provided [RCV001008110] Chr11:64759820..64759821 [GRCh38]
Chr11:64527292..64527293 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.1797del (p.Phe599fs) deletion Glycogen storage disease, type V [RCV000169141] Chr11:64751627 [GRCh38]
Chr11:64519099 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) single nucleotide variant Glycogen storage disease, type V [RCV000169167]|not provided [RCV000627209] Chr11:64755320 [GRCh38]
Chr11:64522792 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.407del (p.Gly136fs) deletion Glycogen storage disease, type V [RCV000169547] Chr11:64758454 [GRCh38]
Chr11:64525926 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
GRCh37/hg19 11q13.1(chr11:64485197-64691737)x3 copy number gain See cases [RCV000203413] Chr11:64485197..64691737 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.660G>A (p.Gln220=) single nucleotide variant Glycogen storage disease, type V [RCV000374157]|Tip-toe gait [RCV001813765]|not provided [RCV000656957]|not specified [RCV000242887] Chr11:64757779 [GRCh38]
Chr11:64525251 [GRCh37]
Chr11:11q13.1		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.924C>T (p.Ile308=) single nucleotide variant Glycogen storage disease, type V [RCV000275037]|not provided [RCV000724693]|not specified [RCV000252449] Chr11:64754768 [GRCh38]
Chr11:64522240 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) single nucleotide variant Glycogen storage disease, type V [RCV000185576]|Tip-toe gait [RCV001822854]|not provided [RCV000723508] Chr11:64754024 [GRCh38]
Chr11:64521496 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.64G>A (p.Val22Met) single nucleotide variant Glycogen storage disease, type V [RCV000396772]|not provided [RCV000399009] Chr11:64759835 [GRCh38]
Chr11:64527307 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2312+3G>C single nucleotide variant Glycogen storage disease, type V [RCV000670048] Chr11:64747221 [GRCh38]
Chr11:64514693 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2380-1G>A single nucleotide variant Glycogen storage disease, type V [RCV000668975]|not provided [RCV001766443] Chr11:64746809 [GRCh38]
Chr11:64514281 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.219_220del (p.His74fs) deletion Glycogen storage disease, type V [RCV000669604] Chr11:64759679..64759680 [GRCh38]
Chr11:64527151..64527152 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) single nucleotide variant Glycogen storage disease, type V [RCV000310215]|not provided [RCV000725611]|not specified [RCV000407094] Chr11:64754262 [GRCh38]
Chr11:64521734 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) single nucleotide variant Glycogen storage disease, type V [RCV000669374] Chr11:64755483 [GRCh38]
Chr11:64522955 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) single nucleotide variant Glycogen storage disease, type V [RCV000917383]|not specified [RCV000606517] Chr11:64753903 [GRCh38]
Chr11:64521375 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.1621-19del deletion Glycogen storage disease, type V [RCV002058194]|not provided [RCV000675630]|not specified [RCV000248781] Chr11:64752090 [GRCh38]
Chr11:64519562 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.540C>T (p.Ala180=) single nucleotide variant Glycogen storage disease, type V [RCV000882322]|not specified [RCV000241581] Chr11:64757899 [GRCh38]
Chr11:64525371 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.243+48A>G single nucleotide variant Glycogen storage disease, type V [RCV001533353]|not provided [RCV000835427]|not specified [RCV000241847] Chr11:64759608 [GRCh38]
Chr11:64527080 [GRCh37]
Chr11:11q13.1		 benign
NM_005609.4(PYGM):c.1403+49C>A single nucleotide variant Glycogen storage disease, type V [RCV001533325]|not provided [RCV001683054]|not specified [RCV000244365] Chr11:64753470 [GRCh38]
Chr11:64520942 [GRCh37]
Chr11:11q13.1		 benign
NM_005609.4(PYGM):c.1092+6dup duplication Glycogen storage disease, type V [RCV000401180]|not provided [RCV000675639]|not specified [RCV000244679] Chr11:64754246..64754247 [GRCh38]
Chr11:64521718..64521719 [GRCh37]
Chr11:11q13.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.516C>T (p.Ser172=) single nucleotide variant Glycogen storage disease, type V [RCV000910714]|not provided [RCV001711705]|not specified [RCV000249788] Chr11:64758258 [GRCh38]
Chr11:64525730 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.425-22C>T single nucleotide variant not provided [RCV000675640]|not specified [RCV000245031] Chr11:64758371 [GRCh38]
Chr11:64525843 [GRCh37]
Chr11:11q13.1		 benign
NM_005609.4(PYGM):c.2313-47T>C single nucleotide variant Glycogen storage disease, type V [RCV001533323]|not provided [RCV000835587]|not specified [RCV000250095] Chr11:64747034 [GRCh38]
Chr11:64514506 [GRCh37]
Chr11:11q13.1		 benign
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) single nucleotide variant Glycogen storage disease, type V [RCV000296404]|not provided [RCV001722323]|not specified [RCV000245345] Chr11:64751424 [GRCh38]
Chr11:64518896 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.660+35G>A single nucleotide variant Glycogen storage disease, type V [RCV001533327]|not provided [RCV001668515]|not specified [RCV000252745] Chr11:64757744 [GRCh38]
Chr11:64525216 [GRCh37]
Chr11:11q13.1		 benign
NM_005609.4(PYGM):c.15G>C (p.Leu5=) single nucleotide variant Glycogen storage disease, type V [RCV001436520]|not specified [RCV000245659] Chr11:64759884 [GRCh38]
Chr11:64527356 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) single nucleotide variant Glycogen storage disease, type V [RCV000887073]|not provided [RCV001705367]|not specified [RCV000247993] Chr11:64757827 [GRCh38]
Chr11:64525299 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu) single nucleotide variant Glycogen storage disease, type V [RCV000320655] Chr11:64757850 [GRCh38]
Chr11:64525322 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1239+12G>A single nucleotide variant Glycogen storage disease, type V [RCV000284704] Chr11:64753867 [GRCh38]
Chr11:64521339 [GRCh37]
Chr11:11q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) single nucleotide variant Glycogen storage disease, type V [RCV000398154] Chr11:64753922 [GRCh38]
Chr11:64521394 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.3(PYGM):c.-146C>A single nucleotide variant Glycogen storage disease, type V [RCV000398911] Chr11:64760044 [GRCh38]
Chr11:64527516 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) single nucleotide variant Glycogen storage disease, type V [RCV000303890] Chr11:64746776 [GRCh38]
Chr11:64514248 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) single nucleotide variant Glycogen storage disease, type V [RCV000377529] Chr11:64757898 [GRCh38]
Chr11:64525370 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) single nucleotide variant Glycogen storage disease, type V [RCV000270920]|not provided [RCV001653505] Chr11:64746799 [GRCh38]
Chr11:64514271 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) single nucleotide variant Glycogen storage disease, type V [RCV000331663]|not provided [RCV001705453] Chr11:64747268 [GRCh38]
Chr11:64514740 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.3(PYGM):c.-381T>C single nucleotide variant Glycogen storage disease, type V [RCV000355026]|not provided [RCV001612966] Chr11:64760279 [GRCh38]
Chr11:64527751 [GRCh37]
Chr11:11q13.1		 benign
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) single nucleotide variant Glycogen storage disease, type V [RCV000274335]|not provided [RCV001551241] Chr11:64747246 [GRCh38]
Chr11:64514718 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser) single nucleotide variant Glycogen storage disease, type V [RCV000259737] Chr11:64755467 [GRCh38]
Chr11:64522939 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.606C>T (p.His202=) single nucleotide variant Glycogen storage disease, type V [RCV000263138] Chr11:64757833 [GRCh38]
Chr11:64525305 [GRCh37]
Chr11:11q13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.2(PYGM):c.-789T>C single nucleotide variant Glycogen storage disease, type V [RCV000266224] Chr11:64760687 [GRCh38]
Chr11:64528159 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) single nucleotide variant Glycogen storage disease, type V [RCV000367183] Chr11:64754334 [GRCh38]
Chr11:64521806 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) single nucleotide variant Glycogen storage disease, type V [RCV000281232]|not provided [RCV000483076] Chr11:64753583 [GRCh38]
Chr11:64521055 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) single nucleotide variant Glycogen storage disease, type V [RCV000671505]|not provided [RCV000338366]|not specified [RCV001778878] Chr11:64753573 [GRCh38]
Chr11:64521045 [GRCh37]
Chr11:11q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) single nucleotide variant Glycogen storage disease, type V [RCV001274029]|not provided [RCV000726186] Chr11:64759891 [GRCh38]
Chr11:64527363 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.352C>T (p.Leu118=) single nucleotide variant Glycogen storage disease, type V [RCV002519119]|not provided [RCV000374564] Chr11:64758509 [GRCh38]
Chr11:64525981 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_005609.4(PYGM):c.330C>T (p.Asp110=) single nucleotide variant Glycogen storage disease, type V [RCV000344345]|not provided [RCV000509222]|not specified [RCV000443441] Chr11:64758618 [GRCh38]
Chr11:64526090 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) single nucleotide variant Glycogen storage disease, type V [RCV000366581] Chr11:64747225 [GRCh38]
Chr11:64514697 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) single nucleotide variant Glycogen storage disease, type V [RCV001103026]|not provided [RCV000675629] Chr11:64751637 [GRCh38]
Chr11:64519109 [GRCh37]
Chr11:11q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.131G>A (p.Arg44His) single nucleotide variant Glycogen storage disease, type V [RCV002519132]|not provided [RCV000280338] Chr11:64759768 [GRCh38]
Chr11:64527240 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys) single nucleotide variant Glycogen storage disease, type V [RCV001280469]|not provided [RCV000384511] Chr11:64751376 [GRCh38]
Chr11:64518848 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.2(PYGM):c.-556C>G single nucleotide variant Glycogen storage disease, type V [RCV000262599] Chr11:64760454 [GRCh38]
Chr11:64527926 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) single nucleotide variant Glycogen storage disease, type V [RCV001088703]|not provided [RCV000349885] Chr11:64753975 [GRCh38]
Chr11:64521447 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) duplication Glycogen storage disease, type V [RCV001387933]|not provided [RCV000341453] Chr11:64753124..64753125 [GRCh38]
Chr11:64520596..64520597 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.2311C>G (p.Arg771Gly) single nucleotide variant Glycogen storage disease, type V [RCV003133207]|not provided [RCV000283436] Chr11:64747225 [GRCh38]
Chr11:64514697 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) single nucleotide variant Glycogen storage disease, type V [RCV001088058]|Inborn genetic diseases [RCV002519079]|not provided [RCV000657929]|not specified [RCV000319373] Chr11:64751370 [GRCh38]
Chr11:64518842 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) single nucleotide variant Glycogen storage disease, type V [RCV000763759]|Inborn genetic diseases [RCV002518814]|Tip-toe gait [RCV001855083]|not provided [RCV000321977] Chr11:64746742 [GRCh38]
Chr11:64514214 [GRCh37]
Chr11:11q13.1		 likely pathogenic|uncertain significance
NM_005609.4(PYGM):c.256C>T (p.Leu86=) single nucleotide variant Glycogen storage disease, type V [RCV000382595] Chr11:64758692 [GRCh38]
Chr11:64526164 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) single nucleotide variant Glycogen storage disease, type V [RCV000313797]|not provided [RCV000522784]|not specified [RCV002229955] Chr11:64754815 [GRCh38]
Chr11:64522287 [GRCh37]
Chr11:11q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005609.2(PYGM):c.-724C>G single nucleotide variant Glycogen storage disease, type V [RCV000358580] Chr11:64760622 [GRCh38]
Chr11:64528094 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) single nucleotide variant Glycogen storage disease, type V [RCV000338371] Chr11:64753656 [GRCh38]
Chr11:64521128 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) single nucleotide variant Glycogen storage disease, type V [RCV000363298] Chr11:64746790 [GRCh38]
Chr11:64514262 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2177+7G>A single nucleotide variant Glycogen storage disease, type V [RCV000388531]|not provided [RCV003221900]|not specified [RCV000604465] Chr11:64750369 [GRCh38]
Chr11:64517841 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) single nucleotide variant Glycogen storage disease, type V [RCV001086488]|not provided [RCV000368305] Chr11:64753958 [GRCh38]
Chr11:64521430 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.346C>G (p.Leu116Val) single nucleotide variant Glycogen storage disease, type V [RCV001277994] Chr11:64758515 [GRCh38]
Chr11:64525987 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.193G>A (p.Val65Met) single nucleotide variant Glycogen storage disease, type V [RCV001277996] Chr11:64759706 [GRCh38]
Chr11:64527178 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) single nucleotide variant Glycogen storage disease, type V [RCV001272370]|not provided [RCV000489454] Chr11:64759691 [GRCh38]
Chr11:64527163 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser) single nucleotide variant Glycogen storage disease, type V [RCV001579114] Chr11:64750499 [GRCh38]
Chr11:64517971 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile) single nucleotide variant Glycogen storage disease, type V [RCV001579116] Chr11:64753128 [GRCh38]
Chr11:64520600 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1970-2A>T single nucleotide variant Glycogen storage disease, type V [RCV001782972]|not provided [RCV000488033] Chr11:64750585 [GRCh38]
Chr11:64518057 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.397G>A (p.Gly133Ser) single nucleotide variant not provided [RCV000489796] Chr11:64758464 [GRCh38]
Chr11:64525936 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.278G>T (p.Gly93Val) single nucleotide variant not provided [RCV000489939] Chr11:64758670 [GRCh38]
Chr11:64526142 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.661-9C>T single nucleotide variant Glycogen storage disease, type V [RCV001443981]|not provided [RCV000595437] Chr11:64755567 [GRCh38]
Chr11:64523039 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_005609.4(PYGM):c.1429C>A (p.Pro477Thr) single nucleotide variant not provided [RCV000722207] Chr11:64753162 [GRCh38]
Chr11:64520634 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) single nucleotide variant Glycogen storage disease, type V [RCV000399460] Chr11:64746738 [GRCh38]
Chr11:64514210 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2178-1G>A single nucleotide variant Glycogen storage disease, type V [RCV001783020]|not provided [RCV000520606] Chr11:64747359 [GRCh38]
Chr11:64514831 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.537G>A (p.Glu179=) single nucleotide variant Glycogen storage disease, type V [RCV000285461] Chr11:64757902 [GRCh38]
Chr11:64525374 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.-23G>A single nucleotide variant Glycogen storage disease, type V [RCV000351355] Chr11:64759921 [GRCh38]
Chr11:64527393 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.3(PYGM):c.-234C>T single nucleotide variant Glycogen storage disease, type V [RCV000297790] Chr11:64760132 [GRCh38]
Chr11:64527604 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1524C>T (p.Ile508=) single nucleotide variant Glycogen storage disease, type V [RCV000970767]|not provided [RCV000604059] Chr11:64752499 [GRCh38]
Chr11:64519971 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1239+8C>T single nucleotide variant Glycogen storage disease, type V [RCV000341998] Chr11:64753871 [GRCh38]
Chr11:64521343 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.2(PYGM):c.-668C>T single nucleotide variant Glycogen storage disease, type V [RCV000301306] Chr11:64760566 [GRCh38]
Chr11:64528038 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys) single nucleotide variant Glycogen storage disease, type V [RCV000312915] Chr11:64759877 [GRCh38]
Chr11:64527349 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser) single nucleotide variant Glycogen storage disease, type V [RCV000290610] Chr11:64759801 [GRCh38]
Chr11:64527273 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.618T>A (p.His206Gln) single nucleotide variant Glycogen storage disease, type V [RCV001829517]|not provided [RCV000520440] Chr11:64757821 [GRCh38]
Chr11:64525293 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) single nucleotide variant Glycogen storage disease, type V [RCV001088368]|Inborn genetic diseases [RCV002532359]|not provided [RCV000837922]|not specified [RCV000596502] Chr11:64751406 [GRCh38]
Chr11:64518878 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) single nucleotide variant Glycogen storage disease, type V [RCV001579119]|Inborn genetic diseases [RCV003302918]|not provided [RCV000597525] Chr11:64753650 [GRCh38]
Chr11:64521122 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2312+16C>T single nucleotide variant Glycogen storage disease, type V [RCV002063993]|not specified [RCV000604533] Chr11:64747208 [GRCh38]
Chr11:64514680 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) duplication not provided [RCV000597743] Chr11:64758272..64758273 [GRCh38]
Chr11:64525744..64525745 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) single nucleotide variant Glycogen storage disease, type V [RCV001829516]|Inborn genetic diseases [RCV002525220]|not provided [RCV000675635] Chr11:64753580 [GRCh38]
Chr11:64521052 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1886A>G (p.Asp629Gly) single nucleotide variant not provided [RCV000722246] Chr11:64751408 [GRCh38]
Chr11:64518880 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1697T>G (p.Ile566Ser) single nucleotide variant not provided [RCV000723043] Chr11:64751995 [GRCh38]
Chr11:64519467 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) single nucleotide variant Glycogen storage disease, type V [RCV000409053]|not provided [RCV001508669] Chr11:64746948 [GRCh38]
Chr11:64514420 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) indel Glycogen storage disease, type V [RCV000409188] Chr11:64752493..64752496 [GRCh38]
Chr11:64519965..64519968 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) deletion Glycogen storage disease, type V [RCV000409435] Chr11:64759885..64759886 [GRCh38]
Chr11:64527357..64527358 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.253del (p.Tyr85fs) deletion Glycogen storage disease, type V [RCV000409457] Chr11:64758695 [GRCh38]
Chr11:64526167 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1680del (p.Asn561fs) deletion Glycogen storage disease, type V [RCV000409547] Chr11:64752012 [GRCh38]
Chr11:64519484 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) single nucleotide variant Glycogen storage disease, type V [RCV000409722] Chr11:64759682 [GRCh38]
Chr11:64527154 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1827+1G>C single nucleotide variant Glycogen storage disease, type V [RCV000409723]|Tip-toe gait [RCV003319195] Chr11:64751596 [GRCh38]
Chr11:64519068 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu) single nucleotide variant Glycogen storage disease, type V [RCV000409749] Chr11:64746660 [GRCh38]
Chr11:64514132 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1970-1G>A single nucleotide variant Glycogen storage disease, type V [RCV000410171] Chr11:64750584 [GRCh38]
Chr11:64518056 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.425-2A>G single nucleotide variant Glycogen storage disease, type V [RCV000410172] Chr11:64758351 [GRCh38]
Chr11:64525823 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) single nucleotide variant Glycogen storage disease, type V [RCV000410338] Chr11:64751975 [GRCh38]
Chr11:64519447 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.2136dup (p.Gly713fs) duplication Glycogen storage disease, type V [RCV000410560] Chr11:64750416..64750417 [GRCh38]
Chr11:64517888..64517889 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.528+2T>G single nucleotide variant Glycogen storage disease, type V [RCV000410907] Chr11:64758244 [GRCh38]
Chr11:64525716 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1969+1G>T single nucleotide variant Glycogen storage disease, type V [RCV000411206] Chr11:64751324 [GRCh38]
Chr11:64518796 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1092+1G>A single nucleotide variant Glycogen storage disease, type V [RCV000411263] Chr11:64754252 [GRCh38]
Chr11:64521724 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1768+2T>G single nucleotide variant Glycogen storage disease, type V [RCV000411312] Chr11:64751922 [GRCh38]
Chr11:64519394 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) single nucleotide variant Glycogen storage disease, type V [RCV000411559] Chr11:64759695 [GRCh38]
Chr11:64527167 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs) deletion Glycogen storage disease, type V [RCV000411646] Chr11:64747292..64747305 [GRCh38]
Chr11:64514764..64514777 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.445_448del (p.Ala149fs) deletion Glycogen storage disease, type V [RCV000411763] Chr11:64758326..64758329 [GRCh38]
Chr11:64525798..64525801 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.855+5G>A single nucleotide variant not provided [RCV000731677] Chr11:64755268 [GRCh38]
Chr11:64522740 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) single nucleotide variant Glycogen storage disease, type V [RCV000412392] Chr11:64758696 [GRCh38]
Chr11:64526168 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) deletion Glycogen storage disease, type V [RCV000412395] Chr11:64758687..64758697 [GRCh38]
Chr11:64526159..64526169 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.2309A>C (p.Asp770Ala) single nucleotide variant not provided [RCV000722764] Chr11:64747227 [GRCh38]
Chr11:64514699 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1240-2A>G single nucleotide variant Glycogen storage disease, type V [RCV000815772] Chr11:64753684 [GRCh38]
Chr11:64521156 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.975G>A (p.Thr325=) single nucleotide variant Glycogen storage disease, type V [RCV002059812]|not provided [RCV003311816]|not specified [RCV000431042] Chr11:64754717 [GRCh38]
Chr11:64522189 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.773-18C>T single nucleotide variant not specified [RCV000437927] Chr11:64755373 [GRCh38]
Chr11:64522845 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.*11C>T single nucleotide variant not specified [RCV000427728] Chr11:64746648 [GRCh38]
Chr11:64514120 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) single nucleotide variant Glycogen storage disease, type V [RCV000531995]|not provided [RCV001720162] Chr11:64752000 [GRCh38]
Chr11:64519472 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) single nucleotide variant Glycogen storage disease, type V [RCV001108215]|not provided [RCV000994652]|not specified [RCV000418804] Chr11:64747337 [GRCh38]
Chr11:64514809 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.723C>T (p.Thr241=) single nucleotide variant Glycogen storage disease, type V [RCV001275778]|not specified [RCV000428699] Chr11:64755496 [GRCh38]
Chr11:64522968 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.2112G>A (p.Ala704=) single nucleotide variant Glycogen storage disease, type V [RCV000906891]|not specified [RCV000419190] Chr11:64750441 [GRCh38]
Chr11:64517913 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.966C>T (p.Pro322=) single nucleotide variant Glycogen storage disease, type V [RCV001504136]|not specified [RCV000443372] Chr11:64754726 [GRCh38]
Chr11:64522198 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) single nucleotide variant Glycogen storage disease, type V [RCV000631183]|not specified [RCV000419783] Chr11:64752496 [GRCh38]
Chr11:64519968 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.390G>A (p.Ala130=) single nucleotide variant Glycogen storage disease, type V [RCV001430130]|not provided [RCV001698153] Chr11:64758471 [GRCh38]
Chr11:64525943 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.-15C>T single nucleotide variant not specified [RCV000426374] Chr11:64759913 [GRCh38]
Chr11:64527385 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1769-3C>T single nucleotide variant not specified [RCV000436835] Chr11:64751658 [GRCh38]
Chr11:64519130 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.120C>T (p.Leu40=) single nucleotide variant Glycogen storage disease, type V [RCV002522519]|not specified [RCV000436847] Chr11:64759779 [GRCh38]
Chr11:64527251 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1518+7G>C single nucleotide variant Glycogen storage disease, type V [RCV002059957]|not specified [RCV000423024] Chr11:64753066 [GRCh38]
Chr11:64520538 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.981C>T (p.Phe327=) single nucleotide variant Glycogen storage disease, type V [RCV002063405]|not specified [RCV000426472] Chr11:64754711 [GRCh38]
Chr11:64522183 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.424+17G>A single nucleotide variant Glycogen storage disease, type V [RCV002062698]|not specified [RCV000437582] Chr11:64758420 [GRCh38]
Chr11:64525892 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.2312+7del deletion not specified [RCV000481697] Chr11:64747217 [GRCh38]
Chr11:64514689 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) single nucleotide variant Glycogen storage disease, type V [RCV001053055]|not provided [RCV000478747] Chr11:64753158 [GRCh38]
Chr11:64520630 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) single nucleotide variant Glycogen storage disease, type V [RCV001274028]|not provided [RCV000726775] Chr11:64759838 [GRCh38]
Chr11:64527310 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) single nucleotide variant Glycogen storage disease, type V [RCV000675078]|not provided [RCV000480329] Chr11:64753126 [GRCh38]
Chr11:64520598 [GRCh37]
Chr11:11q13.1		 likely pathogenic|uncertain significance
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) single nucleotide variant Glycogen storage disease, type V [RCV000498994]|See cases [RCV003324712] Chr11:64751346 [GRCh38]
Chr11:64518818 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.1620+3G>T single nucleotide variant Glycogen storage disease, type V [RCV001834609]|not provided [RCV000497474] Chr11:64752400 [GRCh38]
Chr11:64519872 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2165T>G (p.Leu722Arg) single nucleotide variant not provided [RCV000493570] Chr11:64750388 [GRCh38]
Chr11:64517860 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) single nucleotide variant Glycogen storage disease, type V [RCV001036939]|not provided [RCV000494108] Chr11:64753971 [GRCh38]
Chr11:64521443 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 copy number gain See cases [RCV000511632] Chr11:64501919..67129258 [GRCh37]
Chr11:11q13.1-13.2		 likely pathogenic
NM_005609.4(PYGM):c.1136C>T (p.Thr379Met) single nucleotide variant not provided [RCV000492946] Chr11:64753982 [GRCh38]
Chr11:64521454 [GRCh37]
Chr11:11q13.1		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) single nucleotide variant Glycogen storage disease, type V [RCV000669086]|not provided [RCV000493384] Chr11:64747224 [GRCh38]
Chr11:64514696 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005609.4(PYGM):c.424+16C>T single nucleotide variant not specified [RCV000603242] Chr11:64758421 [GRCh38]
Chr11:64525893 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) single nucleotide variant Glycogen storage disease, type V [RCV000557171]|not provided [RCV001540069] Chr11:64758668 [GRCh38]
Chr11:64526140 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) single nucleotide variant Glycogen storage disease, type V [RCV000631182] Chr11:64746796 [GRCh38]
Chr11:64514268 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) single nucleotide variant Glycogen storage disease, type V [RCV000896587]|not specified [RCV000609539] Chr11:64757881 [GRCh38]
Chr11:64525353 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.660+13_660+15del deletion Glycogen storage disease, type V [RCV002529567]|not specified [RCV000616310] Chr11:64757764..64757766 [GRCh38]
Chr11:64525236..64525238 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.729C>T (p.Arg243=) single nucleotide variant Glycogen storage disease, type V [RCV000926117]|not provided [RCV001796136]|not specified [RCV000613199] Chr11:64755490 [GRCh38]
Chr11:64522962 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.661-606A>C single nucleotide variant not specified [RCV000610678] Chr11:64756164 [GRCh38]
Chr11:64523636 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.2312+13_2312+50del deletion not specified [RCV000608078] Chr11:64747174..64747211 [GRCh38]
Chr11:64514646..64514683 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1093-10C>T single nucleotide variant Glycogen storage disease, type V [RCV001391870]|not specified [RCV000616719] Chr11:64754035 [GRCh38]
Chr11:64521507 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.424+9_424+12del deletion Glycogen storage disease, type V [RCV001499020]|not specified [RCV000611281] Chr11:64758425..64758428 [GRCh38]
Chr11:64525897..64525900 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.345+17G>A single nucleotide variant not specified [RCV000608890] Chr11:64758586 [GRCh38]
Chr11:64526058 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.345+11G>A single nucleotide variant not specified [RCV000603792] Chr11:64758592 [GRCh38]
Chr11:64526064 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1172A>C (p.His391Pro) single nucleotide variant Inborn genetic diseases [RCV003266805] Chr11:64753946 [GRCh38]
Chr11:64521418 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) single nucleotide variant Glycogen storage disease, type V [RCV000671988] Chr11:64753967 [GRCh38]
Chr11:64521439 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.687G>C (p.Thr229=) single nucleotide variant not specified [RCV000604139] Chr11:64755532 [GRCh38]
Chr11:64523004 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.855+4C>T single nucleotide variant Glycogen storage disease, type V [RCV002529458]|not provided [RCV001722626] Chr11:64755269 [GRCh38]
Chr11:64522741 [GRCh37]
Chr11:11q13.1		 likely benign|uncertain significance
NM_005609.4(PYGM):c.999+10G>A single nucleotide variant Glycogen storage disease, type V [RCV001494401]|not specified [RCV000614880] Chr11:64754683 [GRCh38]
Chr11:64522155 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1239+18G>C single nucleotide variant Glycogen storage disease, type V [RCV002529393]|not specified [RCV000614899] Chr11:64753861 [GRCh38]
Chr11:64521333 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1240-16G>A single nucleotide variant Glycogen storage disease, type V [RCV002063995]|not specified [RCV000603635] Chr11:64753698 [GRCh38]
Chr11:64521170 [GRCh37]
Chr11:11q13.1		 benign|likely benign
NM_005609.4(PYGM):c.1093-1G>T single nucleotide variant Glycogen storage disease, type V [RCV000670071] Chr11:64754026 [GRCh38]
Chr11:64521498 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.2400G>A (p.Arg800=) single nucleotide variant not specified [RCV000605170] Chr11:64746788 [GRCh38]
Chr11:64514260 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1218G>T (p.Glu406Asp) single nucleotide variant Glycogen storage disease, type V [RCV003133295]|not provided [RCV000512889] Chr11:64753900 [GRCh38]
Chr11:64521372 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1456G>A (p.Gly486Ser) single nucleotide variant not provided [RCV000513627] Chr11:64753135 [GRCh38]
Chr11:64520607 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) single nucleotide variant Glycogen storage disease, type V [RCV000673149] Chr11:64758253 [GRCh38]
Chr11:64525725 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.818C>T (p.Ala273Val) single nucleotide variant Glycogen storage disease, type V [RCV001277988]|not provided [RCV000658597] Chr11:64755310 [GRCh38]
Chr11:64522782 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) single nucleotide variant Glycogen storage disease, type V [RCV001275777]|not provided [RCV000657906] Chr11:64753577 [GRCh38]
Chr11:64521049 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.1403+2dup duplication not provided [RCV000658355] Chr11:64753516..64753517 [GRCh38]
Chr11:64520988..64520989 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) single nucleotide variant Glycogen storage disease, type V [RCV000670645] Chr11:64753640 [GRCh38]
Chr11:64521112 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) single nucleotide variant Glycogen storage disease, type V [RCV000671584] Chr11:64758446 [GRCh38]
Chr11:64525918 [GRCh37]
Chr11:11q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) single nucleotide variant Glycogen storage disease, type V [RCV000671611]|not specified [RCV002282315] Chr11:64758299 [GRCh38]
Chr11:64525771 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) duplication Glycogen storage disease, type V [RCV000670975] Chr11:64753607..64753608 [GRCh38]
Chr11:64521079..64521080 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1A>T (p.Met1Leu) single nucleotide variant Glycogen storage disease, type V [RCV000668678] Chr11:64759898 [GRCh38]
Chr11:64527370 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) single nucleotide variant Glycogen storage disease, type V [RCV000666983] Chr11:64758293 [GRCh38]
Chr11:64525765 [GRCh37]
Chr11:11q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.1403+24G>A single nucleotide variant not provided [RCV000675634] Chr11:64753495 [GRCh38]
Chr11:64520967 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) microsatellite Glycogen storage disease, type V [RCV000669349] Chr11:64747282..64747284 [GRCh38]
Chr11:64514754..64514756 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.660+1G>A single nucleotide variant Glycogen storage disease, type V [RCV000667359] Chr11:64757778 [GRCh38]
Chr11:64525250 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) single nucleotide variant Glycogen storage disease, type V [RCV000670902] Chr11:64750410 [GRCh38]
Chr11:64517882 [GRCh37]
Chr11:11q13.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) single nucleotide variant Glycogen storage disease, type V [RCV000670812] Chr11:64753128 [GRCh38]
Chr11:64520600 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) microsatellite Glycogen storage disease, type V [RCV000674546] Chr11:64759738..64759739 [GRCh38]
Chr11:64527210..64527211 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) single nucleotide variant Glycogen storage disease, type V [RCV000668184] Chr11:64758491 [GRCh38]
Chr11:64525963 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) single nucleotide variant Glycogen storage disease, type V [RCV000666175]|not provided [RCV002469240] Chr11:64754817 [GRCh38]
Chr11:64522289 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) single nucleotide variant Glycogen storage disease, type V [RCV000674827] Chr11:64746661 [GRCh38]
Chr11:64514133 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) single nucleotide variant Glycogen storage disease, type V [RCV000672453] Chr11:64753989 [GRCh38]
Chr11:64521461 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2319del (p.Val774fs) deletion Glycogen storage disease, type V [RCV000668989] Chr11:64746981 [GRCh38]
Chr11:64514453 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.198del (p.Arg67fs) deletion Glycogen storage disease, type V [RCV000665175] Chr11:64759701 [GRCh38]
Chr11:64527173 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) deletion Glycogen storage disease, type V [RCV000666086] Chr11:64759824..64759832 [GRCh38]
Chr11:64527296..64527304 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) single nucleotide variant Glycogen storage disease, type V [RCV000666659] Chr11:64758514 [GRCh38]
Chr11:64525986 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.262_263del (p.Leu88fs) deletion Glycogen storage disease, type V [RCV000664848] Chr11:64758685..64758686 [GRCh38]
Chr11:64526157..64526158 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) single nucleotide variant Glycogen storage disease, type V [RCV000667688] Chr11:64753925 [GRCh38]
Chr11:64521397 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) single nucleotide variant Glycogen storage disease, type V [RCV000695186] Chr11:64755484 [GRCh38]
Chr11:64522956 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.178G>A (p.Val60Met) single nucleotide variant Glycogen storage disease, type V [RCV000693856] Chr11:64759721 [GRCh38]
Chr11:64527193 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) single nucleotide variant Glycogen storage disease, type V [RCV000691441]|Inborn genetic diseases [RCV003163152]|not provided [RCV001566705] Chr11:64753155 [GRCh38]
Chr11:64520627 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) duplication Glycogen storage disease, type V [RCV000706083] Chr11:64759870..64759871 [GRCh38]
Chr11:64527342..64527343 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) single nucleotide variant Glycogen storage disease, type V [RCV000703766]|High myopia [RCV000785674]|Inborn genetic diseases [RCV002536375]|Tip-toe gait [RCV003319207]|not provided [RCV000761777] Chr11:64759739 [GRCh38]
Chr11:64527211 [GRCh37]
Chr11:11q13.1		 likely pathogenic|uncertain significance
NM_005609.4(PYGM):c.1239+1G>A single nucleotide variant Glycogen storage disease, type V [RCV000690159] Chr11:64753878 [GRCh38]
Chr11:64521350 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) single nucleotide variant Glycogen storage disease, type V [RCV000695169]|Inborn genetic diseases [RCV003279009]|not provided [RCV001574604] Chr11:64750475 [GRCh38]
Chr11:64517947 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1913G>T (p.Gly638Val) single nucleotide variant Glycogen storage disease, type V [RCV002568197]|not provided [RCV001531737] Chr11:64751381 [GRCh38]
Chr11:64518853 [GRCh37]
Chr11:11q13.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005609.4(PYGM):c.244-310_244-309insGGGCCTTGGCCTTGCCCTCCTGGGGAGCTCTTGGAGGCGCTTCCACATGTCCTGGCATCCTGCTGGGCTGTGCGG insertion Glycogen storage disease, type V [RCV001435389] Chr11:64759013..64759014 [GRCh38]
Chr11:64526485..64526486 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1926T>C (p.Arg642=) single nucleotide variant Glycogen storage disease, type V [RCV000938663] Chr11:64751368 [GRCh38]
Chr11:64518840 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.307C>G (p.Leu103Val) single nucleotide variant Glycogen storage disease, type V [RCV001579117] Chr11:64758641 [GRCh38]
Chr11:64526113 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys) single nucleotide variant Glycogen storage disease, type V [RCV001579118] Chr11:64746958 [GRCh38]
Chr11:64514430 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.1239+72G>A single nucleotide variant not provided [RCV001575480] Chr11:64753807 [GRCh38]
Chr11:64521279 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) single nucleotide variant Glycogen storage disease, type V [RCV000761339] Chr11:64758458 [GRCh38]
Chr11:64525930 [GRCh37]
Chr11:11q13.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_005609.4(PYGM):c.682del (p.Asp228fs) deletion Glycogen storage disease, type V [RCV001068074] Chr11:64755537 [GRCh38]
Chr11:64523009 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.1742del (p.Cys581fs) deletion Glycogen storage disease, type V [RCV000991439] Chr11:64751950 [GRCh38]
Chr11:64519422 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1828-2A>G single nucleotide variant Glycogen storage disease, type V [RCV001963967] Chr11:64751468 [GRCh38]
Chr11:64518940 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NC_000011.10:g.(?_64750366)_(64750593_?)del deletion Glycogen storage disease, type V [RCV001031388] Chr11:64517838..64518065 [GRCh37]
Chr11:11q13.1		 pathogenic
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) microsatellite Glycogen storage disease, type V [RCV000988571] Chr11:64751955..64751957 [GRCh38]
Chr11:64519427..64519429 [GRCh37]
Chr11:11q13.1		 likely pathogenic
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln) single nucleotide variant Glycogen storage disease, type V [RCV001579120] Chr11:64753642 [GRCh38]
Chr11:64521114 [GRCh37]
Chr11:11q13.1		 uncertain significance
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) single nucleotide variant Glycogen storage disease, type V [RCV001108216] Chr11:64750471 [GRCh38]
Chr11:64517943 [GRCh37]
Chr11:11q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005609.4(PYGM):c.2220G>C (p.Arg740=) single nucleotide variant Glycogen storage disease, type V [RCV000921211] Chr11:64747316 [GRCh38]
Chr11:64514788 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.630C>T (p.Thr210=) single nucleotide variant Glycogen storage disease, type V [RCV001397616] Chr11:64757809 [GRCh38]
Chr11:64525281 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1146C>T (p.Pro382=) single nucleotide variant Glycogen storage disease, type V [RCV000902748] Chr11:64753972 [GRCh38]
Chr11:64521444 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.2355G>A (p.Gln785=) single nucleotide variant Glycogen storage disease, type V [RCV001425746] Chr11:64746945 [GRCh38]
Chr11:64514417 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.528+9C>T single nucleotide variant Glycogen storage disease, type V [RCV000904666] Chr11:64758237 [GRCh38]
Chr11:64525709 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.84G>A (p.Leu28=) single nucleotide variant Glycogen storage disease, type V [RCV000970652] Chr11:64759815 [GRCh38]
Chr11:64527287 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.474C>T (p.Tyr158=) single nucleotide variant Glycogen storage disease, type V [RCV000927919] Chr11:64758300 [GRCh38]
Chr11:64525772 [GRCh37]
Chr11:11q13.1		 likely benign
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) single nucleotide variant Glycogen storage disease, type V [RCV001062130]|Tip-toe gait [RCV003319218]|not provided [RCV001557247] Chr11:64753928 [GRCh38]
Chr11:64521400 [GRCh37]
Chr11:11q13.1		 pathogenic|likely pathogenic
NC_000011.10:g.(?_64758236)_(64758714_?)del deletion Glycogen storage disease, type V [RCV001033420] Chr11:64525708..64526186 [GRCh37]
Chr11:11q13.1		 likely pathogenic