AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase) Homo sapiens
Analyze
Symbol: AGL
Name: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
RGD ID: 1314958
HGNC Page HGNC:321
Description: Enables 4-alpha-glucanotransferase activity and amylo-alpha-1,6-glucosidase activity. Predicted to be involved in glycogen catabolic process. Predicted to act upstream of or within glycogen metabolic process. Located in cytoplasm. Implicated in glycogen storage disease III.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: amylo-1, 6-glucosidase, 4-alpha-glucanotransferase; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided; GDE; glycogen debrancher; glycogen debranching enzyme
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38199,849,258 - 99,924,023 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl199,850,361 - 99,924,023 (+)EnsemblGRCh38hg38GRCh38
GRCh371100,315,917 - 100,389,576 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361100,088,228 - 100,162,167 (+)NCBINCBI36Build 36hg18NCBI36
Celera198,570,515 - 98,644,447 (+)NCBICelera
Cytogenetic Map1p21.2NCBI
HuRef198,438,182 - 98,512,138 (+)NCBIHuRef
CHM1_11100,431,893 - 100,506,067 (+)NCBICHM1_1
T2T-CHM13v2.0199,697,491 - 99,772,284 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
alpha-Zearalanol  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
chlorpyrifos  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
glucose  (EXP)
glycogen  (EXP)
ivermectin  (EXP)
Licochalcone B  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
motexafin gadolinium  (EXP)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
parathion  (ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Inhibition of glycogenolysis by a glucose analogue in the working rat heart. Depre C and Hue L, J Mol Cell Cardiol. 1997 Aug;29(8):2253-9.
3. Glycogen debranching enzyme is associated with rat skeletal muscle sarcoplasmic reticulum. Lees SJ, etal., Acta Physiol Scand. 2004 Jun;181(2):239-45.
4. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Lucchiari S, etal., Hum Mutat. 2006 Jun;27(6):600-1.
5. Carbohydrate metabolism in the chronically uremic rat. Mannan A, etal., Clin Biochem. 1975 Jun;8(3):194-8.
6. N-methyl-1-deoxynojirimycin (MOR-14), an alpha-glucosidase inhibitor, markedly improves postischemic left ventricular dysfunction. Nishida Y, etal., Heart Vessels. 2000;15(6):268-73.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Glycogen-binding protein components of rat tissues. Satoh K and Sato K, Biochem Biophys Res Commun. 1980 Sep 16;96(1):28-33.
14. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. Shen J, etal., J Clin Invest. 1996 Jul 15;98(2):352-7.
Additional References at PubMed
PMID:933239   PMID:1374391   PMID:1505983   PMID:2295969   PMID:2961257   PMID:8702417   PMID:8954797   PMID:8990006   PMID:9332391   PMID:9412782   PMID:9490286   PMID:9691087  
PMID:10571954   PMID:10925384   PMID:10982190   PMID:11378828   PMID:11924557   PMID:12477932   PMID:14718574   PMID:14744259   PMID:15489334   PMID:15833157   PMID:15886229   PMID:17047887  
PMID:17908927   PMID:17915576   PMID:18029348   PMID:18924225   PMID:19299494   PMID:19754354   PMID:19834502   PMID:20158661   PMID:20301788   PMID:20379614   PMID:20562859   PMID:20648714  
PMID:20800603   PMID:21145461   PMID:21697133   PMID:21873635   PMID:22035446   PMID:22424883   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23218918   PMID:23414517   PMID:23649758  
PMID:23882694   PMID:24257475   PMID:24337577   PMID:24639526   PMID:24837458   PMID:25451950   PMID:25602008   PMID:25609649   PMID:25827695   PMID:25921289   PMID:26252094   PMID:26344197  
PMID:26490312   PMID:26496610   PMID:26508657   PMID:26693507   PMID:26831064   PMID:26975021   PMID:26984562   PMID:27342126   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28675297  
PMID:28986522   PMID:29507755   PMID:29676528   PMID:29791485   PMID:29794575   PMID:29845934   PMID:29955894   PMID:31028654   PMID:31253590   PMID:32222031   PMID:32687490   PMID:32707033  
PMID:33462405   PMID:33961781   PMID:34349018   PMID:35032548   PMID:35063084   PMID:35120648   PMID:35256949   PMID:35446349   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36244648  
PMID:36261009   PMID:36538041   PMID:36590901   PMID:37317656   PMID:37827155  


Genomics

Comparative Map Data
AGL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38199,849,258 - 99,924,023 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl199,850,361 - 99,924,023 (+)EnsemblGRCh38hg38GRCh38
GRCh371100,315,917 - 100,389,576 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361100,088,228 - 100,162,167 (+)NCBINCBI36Build 36hg18NCBI36
Celera198,570,515 - 98,644,447 (+)NCBICelera
Cytogenetic Map1p21.2NCBI
HuRef198,438,182 - 98,512,138 (+)NCBIHuRef
CHM1_11100,431,893 - 100,506,067 (+)NCBICHM1_1
T2T-CHM13v2.0199,697,491 - 99,772,284 (+)NCBIT2T-CHM13v2.0
Agl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393116,533,648 - 116,601,815 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3116,533,648 - 116,601,815 (-)EnsemblGRCm39 Ensembl
GRCm383116,739,999 - 116,808,166 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3116,739,999 - 116,808,166 (-)EnsemblGRCm38mm10GRCm38
MGSCv373116,442,917 - 116,511,084 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363116,732,003 - 116,800,170 (-)NCBIMGSCv36mm8
Celera3123,163,575 - 123,226,478 (-)NCBICelera
Cytogenetic Map3G1NCBI
cM Map350.47NCBI
Agl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82207,389,949 - 207,445,959 (-)NCBIGRCr8
mRatBN7.22204,705,053 - 204,760,966 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2204,705,053 - 204,760,828 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2212,360,352 - 212,416,298 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02210,276,718 - 210,333,402 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02205,093,802 - 205,150,486 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02219,788,234 - 219,843,189 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2219,788,234 - 219,842,986 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02237,375,913 - 237,430,811 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42212,985,676 - 213,041,451 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12212,950,852 - 213,004,133 (-)NCBI
Celera2197,196,717 - 197,252,494 (-)NCBICelera
Cytogenetic Map2q42NCBI
Agl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554354,621,991 - 4,688,139 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554354,622,142 - 4,684,439 (+)NCBIChiLan1.0ChiLan1.0
AGL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21127,105,703 - 127,181,631 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11126,260,783 - 126,336,647 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01102,506,234 - 102,580,183 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11101,225,646 - 101,299,511 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1101,226,120 - 101,299,511 (+)Ensemblpanpan1.1panPan2
AGL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1650,039,661 - 50,112,543 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl650,041,947 - 50,112,279 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha652,720,444 - 52,790,584 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0650,395,404 - 50,468,323 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl650,397,314 - 50,468,172 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1650,089,271 - 50,159,524 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0650,068,211 - 50,138,107 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0650,499,977 - 50,570,258 (-)NCBIUU_Cfam_GSD_1.0
Agl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405058109,668,098 - 109,703,925 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493722423,225 - 32,639 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4118,177,377 - 118,269,101 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14118,186,031 - 118,269,106 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24129,759,895 - 129,831,601 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AGL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12033,422,807 - 33,491,335 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2033,422,790 - 33,490,016 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603824,565,816 - 24,633,799 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248572,629,313 - 2,728,196 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248572,629,158 - 2,730,764 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGL
2252 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000642.3(AGL):c.1911G>A (p.Ala637=) single nucleotide variant Glycogen storage disease type III [RCV000548730] Chr1:99881087 [GRCh38]
Chr1:100346643 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1602C>T (p.His534=) single nucleotide variant AGL-related disorder [RCV003942734]|Glycogen storage disease type III [RCV000546798]|not specified [RCV000616869] Chr1:99877819 [GRCh38]
Chr1:100343375 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.1943C>G (p.Ser648Cys) single nucleotide variant Glycogen storage disease type III [RCV000548228] Chr1:99881119 [GRCh38]
Chr1:100346675 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.341G>C (p.Arg114Pro) single nucleotide variant Glycogen storage disease type III [RCV000524574] Chr1:99862304 [GRCh38]
Chr1:100327860 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3683G>A (p.Arg1228Gln) single nucleotide variant Glycogen storage disease type III [RCV000542734] Chr1:99902777 [GRCh38]
Chr1:100368333 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2241T>C (p.Ser747=) single nucleotide variant Glycogen storage disease type III [RCV000525323] Chr1:99881624 [GRCh38]
Chr1:100347180 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) single nucleotide variant Glycogen storage disease type III [RCV000551743]|Inborn genetic diseases [RCV002525288] Chr1:99916412 [GRCh38]
Chr1:100381968 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2402A>G (p.Asp801Gly) single nucleotide variant Glycogen storage disease type III [RCV000544418] Chr1:99884213 [GRCh38]
Chr1:100349769 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2069G>T (p.Gly690Val) single nucleotide variant Glycogen storage disease type III [RCV000526666] Chr1:99881359 [GRCh38]
Chr1:100346915 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1936A>G (p.Ile646Val) single nucleotide variant Glycogen storage disease type III [RCV000526974] Chr1:99881112 [GRCh38]
Chr1:100346668 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.30A>T (p.Leu10Phe) single nucleotide variant Glycogen storage disease type III [RCV000529938] Chr1:99851072 [GRCh38]
Chr1:100316628 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1735+1G>T single nucleotide variant Glycogen storage disease IIIa [RCV000001159]|Glycogen storage disease type III [RCV000169137] Chr1:99880047 [GRCh38]
Chr1:100345603 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
AGL, EcoRI FRAGMENT INS variation Glycogen storage disease IIIa [RCV000001160] Chr1:1p21 pathogenic
NM_000642.3(AGL):c.4259+5G>A single nucleotide variant Glycogen storage disease IIIb [RCV000001164]|Glycogen storage disease type III [RCV000991301]|not provided [RCV001558704] Chr1:99915491 [GRCh38]
Chr1:100381047 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) single nucleotide variant Glycogen storage disease type III [RCV000547127]|not provided [RCV000761673] Chr1:99884597 [GRCh38]
Chr1:100350153 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer) microsatellite Glycogen storage disease type III [RCV000543458] Chr1:99892550..99892551 [GRCh38]
Chr1:100358106..100358107 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) single nucleotide variant AGL-related disorder [RCV003979944]|Glycogen storage disease type III [RCV000529371]|not provided [RCV000585302] Chr1:99884201 [GRCh38]
Chr1:100349757 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) single nucleotide variant Glycogen storage disease type III [RCV000551872]|not provided [RCV001507966] Chr1:99891348 [GRCh38]
Chr1:100356904 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.4436T>C (p.Val1479Ala) single nucleotide variant Glycogen storage disease type III [RCV000543283] Chr1:99916686 [GRCh38]
Chr1:100382242 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) single nucleotide variant Glycogen storage disease type III [RCV000547534]|Inborn genetic diseases [RCV002525287]|not provided [RCV000994055] Chr1:99913629 [GRCh38]
Chr1:100379185 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.310G>A (p.Gly104Arg) single nucleotide variant Glycogen storage disease type III [RCV000544838] Chr1:99862273 [GRCh38]
Chr1:100327829 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) single nucleotide variant Glycogen storage disease type III [RCV000528760] Chr1:99916491 [GRCh38]
Chr1:100382047 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.4473T>C (p.His1491=) single nucleotide variant Glycogen storage disease type III [RCV000546323] Chr1:99916723 [GRCh38]
Chr1:100382279 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) single nucleotide variant Glycogen storage disease type III [RCV000552455]|Inborn genetic diseases [RCV002528306]|not provided [RCV003441918] Chr1:99902791 [GRCh38]
Chr1:100368347 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) single nucleotide variant Glycogen storage disease type III [RCV000020376]|not provided [RCV000723818] Chr1:99884612 [GRCh38]
Chr1:100350168 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) single nucleotide variant Glycogen storage disease type III [RCV000020377]|not provided [RCV000723820] Chr1:99902776 [GRCh38]
Chr1:100368332 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.2(AGL):c.4455delT (p.Ser1486Profs) deletion Glycogen storage disease type III [RCV000020380] Chr1:99916705 [GRCh38]
Chr1:100382261 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) duplication Glycogen storage disease IIIa [RCV000001152]|Glycogen storage disease type III [RCV000169573]|Inborn genetic diseases [RCV001265666] Chr1:99921580..99921581 [GRCh38]
Chr1:100387136..100387137 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) single nucleotide variant Glycogen storage disease IIIb [RCV000001153]|Glycogen storage disease type III [RCV000020373]|not provided [RCV000675315] Chr1:99851058 [GRCh38]
Chr1:100316614 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) single nucleotide variant Glycogen storage disease IIIb [RCV000001154]|Glycogen storage disease type III [RCV000020375]|not provided [RCV000578784] Chr1:99881329 [GRCh38]
Chr1:100346885 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.2(AGL):c.17_18delAG (p.Gln6Hisfs) deletion Glycogen storage disease IIIb [RCV000001155]|Glycogen storage disease type III [RCV000020374] Chr1:99851059..99851060 [GRCh38]
Chr1:100316615..100316616 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.4456del (p.Ser1486fs) deletion Glycogen storage disease IIIa [RCV000001156]|Glycogen storage disease type III [RCV000177731]|not provided [RCV000723822] Chr1:99916704 [GRCh38]
Chr1:100382260 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.4260-12A>G single nucleotide variant AGL-related disorder [RCV003407251]|Glycogen storage disease IIIa [RCV000001158]|Glycogen storage disease IIIb [RCV000001157]|Glycogen storage disease type III [RCV000020379]|not provided [RCV000675344] Chr1:99916398 [GRCh38]
Chr1:100381954 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg) single nucleotide variant Glycogen storage disease IIIa [RCV000001161] Chr1:99916492 [GRCh38]
Chr1:100382048 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3965del (p.Val1322fs) deletion Glycogen storage disease IIIa [RCV000001162]|Glycogen storage disease type III [RCV000020378]|not provided [RCV000723821] Chr1:99913542 [GRCh38]
Chr1:100379098 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1999del (p.Gln667fs) deletion Glycogen storage disease IIIb [RCV000001163] Chr1:99881175 [GRCh38]
Chr1:100346731 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) single nucleotide variant Glycogen storage disease IIIa [RCV000001165]|Glycogen storage disease type III [RCV000020372]|not provided [RCV001582458] Chr1:99875394 [GRCh38]
Chr1:100340950 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3439A>G (p.Arg1147Gly) single nucleotide variant Glycogen storage disease IIIc [RCV000001166] Chr1:99900712 [GRCh38]
Chr1:100366268 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) single nucleotide variant Glycogen storage disease IIIa [RCV000001167]|Glycogen storage disease type III [RCV000333868]|not provided [RCV000435914] Chr1:99913557 [GRCh38]
Chr1:100379113 [GRCh37]
Chr1:1p21.2		 pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000642.3(AGL):c.11G>A (p.Ser4Asn) single nucleotide variant Glycogen storage disease type III [RCV001246859] Chr1:99851053 [GRCh38]
Chr1:100316609 [GRCh37]
Chr1:1p21.2		 uncertain significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:98557000-107949047)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053878]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053878]|See cases [RCV000053878] Chr1:98557000..107949047 [GRCh38]
Chr1:99022556..108491669 [GRCh37]
Chr1:98795144..108293192 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
NM_000642.3(AGL):c.1320C>T (p.Ser440=) single nucleotide variant Glycogen storage disease type III [RCV003825201] Chr1:99876494 [GRCh38]
Chr1:100342050 [GRCh37]
Chr1:100114638 [NCBI36]
Chr1:1p21.2		 likely benign|not provided
NM_000642.2(AGL):c.186C>T (p.Phe62=) single nucleotide variant Malignant melanoma [RCV000059819] Chr1:99861606 [GRCh38]
Chr1:100327162 [GRCh37]
Chr1:100099750 [NCBI36]
Chr1:1p21.2		 not provided
NM_000642.3(AGL):c.1485del (p.Arg494_Tyr495insTer) deletion not provided [RCV000174259] Chr1:99877702 [GRCh38]
Chr1:100343258 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.18_19del (p.Gln6fs) deletion Glycogen storage disease IIIb [RCV000001155]|Glycogen storage disease type III [RCV000175637]|not provided [RCV000723819] Chr1:99851059..99851060 [GRCh38]
Chr1:100316615..100316616 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) single nucleotide variant Glycogen storage disease IIIa [RCV000588509]|Glycogen storage disease type III [RCV000177086]|not provided [RCV000724625] Chr1:99861676 [GRCh38]
Chr1:100327232 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.412G>A (p.Gly138Arg) single nucleotide variant Glycogen storage disease type III [RCV001310274] Chr1:99862375 [GRCh38]
Chr1:100327931 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) single nucleotide variant Glycogen storage disease type III [RCV001293788] Chr1:99913703 [GRCh38]
Chr1:100379259 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.947_948del (p.Leu316fs) deletion Glycogen storage disease type III [RCV001293789] Chr1:99870858..99870859 [GRCh38]
Chr1:100336414..100336415 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.1612-1G>A single nucleotide variant Glycogen storage disease type III [RCV001293792] Chr1:99879922 [GRCh38]
Chr1:100345478 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys) single nucleotide variant Glycogen storage disease type III [RCV001293795] Chr1:99896388 [GRCh38]
Chr1:100361944 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) single nucleotide variant Glycogen storage disease type III [RCV000378380]|not provided [RCV000675324]|not specified [RCV000180519] Chr1:99875231 [GRCh38]
Chr1:100340787 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.535_538del (p.Leu179fs) deletion Glycogen storage disease type III [RCV000984241]|not provided [RCV000178792] Chr1:99864458..99864461 [GRCh38]
Chr1:100330014..100330017 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.894C>T (p.Leu298=) single nucleotide variant Glycogen storage disease type III [RCV000327447]|not provided [RCV000675321]|not specified [RCV000179774] Chr1:99870805 [GRCh38]
Chr1:100336361 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2681+1G>T single nucleotide variant Glycogen storage disease type III [RCV000411544]|Inborn genetic diseases [RCV002524625] Chr1:99884704 [GRCh38]
Chr1:100350260 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000642.3(AGL):c.3214G>T (p.Glu1072Ter) single nucleotide variant Glycogen storage disease type III [RCV001293787] Chr1:99892562 [GRCh38]
Chr1:100358118 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly) single nucleotide variant Glycogen storage disease type III [RCV000256391] Chr1:99875454 [GRCh38]
Chr1:100341010 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) single nucleotide variant Glycogen storage disease type III [RCV000256372] Chr1:99870507 [GRCh38]
Chr1:100336063 [GRCh37]
Chr1:1p21.2		 likely pathogenic|uncertain significance
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 copy number loss See cases [RCV000135333] Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1		 pathogenic
GRCh38/hg38 1p21.2(chr1:99515860-100031916)x3 copy number gain See cases [RCV000136037] Chr1:99515860..100031916 [GRCh38]
Chr1:99981416..100497472 [GRCh37]
Chr1:99754004..100270060 [NCBI36]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.-10A>G single nucleotide variant Glycogen storage disease type III [RCV000287312]|not provided [RCV000675314]|not specified [RCV000175636] Chr1:99851033 [GRCh38]
Chr1:100316589 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) single nucleotide variant Glycogen storage disease type III [RCV000169056] Chr1:99861520 [GRCh38]
Chr1:100327076 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2309-1G>A single nucleotide variant Glycogen storage disease IIIa [RCV000587290]|Glycogen storage disease type III [RCV000169136] Chr1:99884119 [GRCh38]
Chr1:100349675 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) single nucleotide variant Glycogen storage disease type III [RCV000169156] Chr1:99861514 [GRCh38]
Chr1:100327070 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) single nucleotide variant Glycogen storage disease type III [RCV000169157] Chr1:99896323 [GRCh38]
Chr1:100361879 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter) single nucleotide variant Glycogen storage disease type III [RCV000169313] Chr1:99900717 [GRCh38]
Chr1:100366273 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.4197del (p.Ala1400fs) deletion Glycogen storage disease type III [RCV000169345] Chr1:99915422 [GRCh38]
Chr1:100380978 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.664+3A>G single nucleotide variant Glycogen storage disease IIIa [RCV000585987]|Glycogen storage disease type III [RCV000169374] Chr1:99864592 [GRCh38]
Chr1:100330148 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.1391dup (p.Asp465fs) duplication Glycogen storage disease type III [RCV000169381] Chr1:99876562..99876563 [GRCh38]
Chr1:100342118..100342119 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) single nucleotide variant Glycogen storage disease type III [RCV000169437]|not provided [RCV000579304] Chr1:99861538 [GRCh38]
Chr1:100327094 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) duplication Glycogen storage disease type III [RCV000169447] Chr1:99915440..99915441 [GRCh38]
Chr1:100380996..100380997 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) deletion Glycogen storage disease type III [RCV000169486] Chr1:99876556 [GRCh38]
Chr1:100342112 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3362+9G>A single nucleotide variant Glycogen storage disease type III [RCV001088600]|not provided [RCV000176535] Chr1:99896397 [GRCh38]
Chr1:100361953 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) single nucleotide variant Glycogen storage disease type III [RCV000631147]|Inborn genetic diseases [RCV004619206]|not provided [RCV000177522] Chr1:99915437 [GRCh38]
Chr1:100380993 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4162-11G>A single nucleotide variant Glycogen storage disease type III [RCV000387898]|not provided [RCV000675343]|not specified [RCV000443154] Chr1:99915378 [GRCh38]
Chr1:100380934 [GRCh37]
Chr1:1p21.2		 benign|likely benign|uncertain significance
NM_000642.3(AGL):c.318C>T (p.Tyr106=) single nucleotide variant Glycogen storage disease type III [RCV000391390] Chr1:99862281 [GRCh38]
Chr1:100327837 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) single nucleotide variant Glycogen storage disease type III [RCV000393956] Chr1:99881374 [GRCh38]
Chr1:100346930 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1908A>G (p.Ser636=) single nucleotide variant Glycogen storage disease type III [RCV000400352]|not provided [RCV003409427]|not specified [RCV000424690] Chr1:99881084 [GRCh38]
Chr1:100346640 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.39C>T (p.Asn13=) single nucleotide variant Glycogen storage disease type III [RCV000401817]|not provided [RCV000675316]|not specified [RCV000312473] Chr1:99851081 [GRCh38]
Chr1:100316637 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.82+4A>C single nucleotide variant AGL-related disorder [RCV003967812]|Glycogen storage disease type III [RCV000302697]|Inborn genetic diseases [RCV002518169]|not provided [RCV000761670]|not specified [RCV000424005] Chr1:99851128 [GRCh38]
Chr1:100316684 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe) single nucleotide variant Glycogen storage disease type III [RCV000295936] Chr1:99915434 [GRCh38]
Chr1:100380990 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.334A>G (p.Ile112Val) single nucleotide variant Glycogen storage disease type III [RCV000299112]|Inborn genetic diseases [RCV002518170]|not provided [RCV000786275] Chr1:99862297 [GRCh38]
Chr1:100327853 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.609A>G (p.Lys203=) single nucleotide variant Glycogen storage disease type III [RCV000277860] Chr1:99864534 [GRCh38]
Chr1:100330090 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) single nucleotide variant AGL-related disorder [RCV003910050]|Glycogen storage disease type III [RCV000265577]|Inborn genetic diseases [RCV002519360]|not provided [RCV002261029] Chr1:99900704 [GRCh38]
Chr1:100366260 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) single nucleotide variant Glycogen storage disease type III [RCV000266808]|not specified [RCV000615752] Chr1:99892579 [GRCh38]
Chr1:100358135 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1065G>A (p.Thr355=) single nucleotide variant AGL-related disorder [RCV003967813]|Glycogen storage disease type III [RCV000268899] Chr1:99874793 [GRCh38]
Chr1:100340349 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.2681+1G>A single nucleotide variant AGL-related disorder [RCV003401231]|Glycogen storage disease type III [RCV000377764]|not provided [RCV000724650] Chr1:99884704 [GRCh38]
Chr1:100350260 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) single nucleotide variant Glycogen storage disease type III [RCV000382009] Chr1:99874778 [GRCh38]
Chr1:100340334 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) single nucleotide variant Glycogen storage disease type III [RCV000366130] Chr1:99888067 [GRCh38]
Chr1:100353623 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.847-7T>A single nucleotide variant AGL-related disorder [RCV003910049]|Glycogen storage disease type III [RCV000368811] Chr1:99870751 [GRCh38]
Chr1:100336307 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) single nucleotide variant Glycogen storage disease type III [RCV000376480]|not specified [RCV000610696] Chr1:99896371 [GRCh38]
Chr1:100361927 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1064C>A (p.Thr355Lys) single nucleotide variant Glycogen storage disease type III [RCV000543515] Chr1:99874792 [GRCh38]
Chr1:100340348 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) single nucleotide variant Glycogen storage disease type III [RCV000545963]|Inborn genetic diseases [RCV002527673] Chr1:99864547 [GRCh38]
Chr1:100330103 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1155G>A (p.Lys385=) single nucleotide variant Glycogen storage disease type III [RCV001087809]|not provided [RCV000675322] Chr1:99875226 [GRCh38]
Chr1:100340782 [GRCh37]
Chr1:1p21.2		 likely benign
NC_000001.10:g.(?_100366308)_(100367832_?)del deletion Glycogen storage disease type III [RCV000544604] Chr1:100366308..100367832 [GRCh37]
Chr1:1p21.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_000642.3(AGL):c.2001+3T>G single nucleotide variant Glycogen storage disease type III [RCV002564220]|not provided [RCV001507965] Chr1:99881180 [GRCh38]
Chr1:100346736 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) deletion Glycogen storage disease type III [RCV000670555] Chr1:99861642..99861643 [GRCh38]
Chr1:100327198..100327199 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.846+7A>G single nucleotide variant Glycogen storage disease type III [RCV002076053] Chr1:99870588 [GRCh38]
Chr1:100336144 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del) microsatellite Glycogen storage disease type III [RCV000669491] Chr1:99884128..99884130 [GRCh38]
Chr1:100349684..100349686 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) single nucleotide variant Glycogen storage disease type III [RCV000306756]|Inborn genetic diseases [RCV004619250] Chr1:99891622 [GRCh38]
Chr1:100357178 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) single nucleotide variant Glycogen storage disease type III [RCV000311437]|Inborn genetic diseases [RCV002518171]|not provided [RCV000423215] Chr1:99881631 [GRCh38]
Chr1:100347187 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu) single nucleotide variant Glycogen storage disease type III [RCV000625773] Chr1:99913614 [GRCh38]
Chr1:100379170 [GRCh37]
Chr1:1p21.2		 pathogenic|uncertain significance
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) single nucleotide variant Glycogen storage disease type III [RCV000335847]|Inborn genetic diseases [RCV002519359]|not provided [RCV001567373] Chr1:99880655 [GRCh38]
Chr1:100346211 [GRCh37]
Chr1:1p21.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) single nucleotide variant Glycogen storage disease type III [RCV000314774] Chr1:99881155 [GRCh38]
Chr1:100346711 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) single nucleotide variant Glycogen storage disease type III [RCV000318309]|Inborn genetic diseases [RCV003258736] Chr1:99900857 [GRCh38]
Chr1:100366413 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu) single nucleotide variant Glycogen storage disease type III [RCV000545776] Chr1:99910773 [GRCh38]
Chr1:100376329 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.83-19del deletion Glycogen storage disease type III [RCV000669617] Chr1:99861483 [GRCh38]
Chr1:100327039 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1082+1G>C single nucleotide variant Glycogen storage disease type III [RCV000669745] Chr1:99874811 [GRCh38]
Chr1:100340367 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.515G>C (p.Cys172Ser) single nucleotide variant Glycogen storage disease type III [RCV000353923]|Inborn genetic diseases [RCV002519358] Chr1:99864440 [GRCh38]
Chr1:100329996 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter) single nucleotide variant Glycogen storage disease type III [RCV000669251] Chr1:99875230 [GRCh38]
Chr1:100340786 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2814T>G (p.Gly938=) single nucleotide variant Glycogen storage disease type III [RCV000886274]|not specified [RCV000604682] Chr1:99891221 [GRCh38]
Chr1:100356777 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG microsatellite Glycogen storage disease type III [RCV002518583]|not specified [RCV000250972] Chr1:99874669..99874670 [GRCh38]
Chr1:100340225..100340226 [GRCh37]
Chr1:1p21.2		 pathogenic|likely benign
NM_000642.3(AGL):c.4290T>C (p.Asn1430=) single nucleotide variant Glycogen storage disease type III [RCV003343727]|not specified [RCV000253321] Chr1:99916440 [GRCh38]
Chr1:100381996 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2883A>G (p.Arg961=) single nucleotide variant Glycogen storage disease type III [RCV001079501]|not provided [RCV000675333]|not specified [RCV000253446] Chr1:99891290 [GRCh38]
Chr1:100356846 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.*1541T>C single nucleotide variant Glycogen storage disease type III [RCV000286279]|not provided [RCV004713479] Chr1:99923192 [GRCh38]
Chr1:100388748 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) single nucleotide variant AGL-related disorder [RCV003925417]|Glycogen storage disease type III [RCV001085587]|not provided [RCV000487628] Chr1:99916481 [GRCh38]
Chr1:100382037 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1618T>C (p.Leu540=) single nucleotide variant AGL-related disorder [RCV003983107]|Glycogen storage disease type III [RCV000552730] Chr1:99879929 [GRCh38]
Chr1:100345485 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4161+11C>G single nucleotide variant Glycogen storage disease type III [RCV002518582]|not specified [RCV000243790] Chr1:99913749 [GRCh38]
Chr1:100379305 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3260-19G>A single nucleotide variant Glycogen storage disease type III [RCV001522841]|not provided [RCV000675336]|not specified [RCV000251090] Chr1:99896267 [GRCh38]
Chr1:100361823 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.2546+10T>C single nucleotide variant Glycogen storage disease type III [RCV000557757]|not provided [RCV003736678]|not specified [RCV000253559] Chr1:99884461 [GRCh38]
Chr1:100350017 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) single nucleotide variant Glycogen storage disease type III [RCV000278234]|not provided [RCV003736680]|not specified [RCV000243854] Chr1:99910769 [GRCh38]
Chr1:100376325 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.959-18G>A single nucleotide variant Glycogen storage disease type III [RCV001511878]|not provided [RCV000587549]|not specified [RCV000246437] Chr1:99874669 [GRCh38]
Chr1:100340225 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3836+45G>A single nucleotide variant Glycogen storage disease type III [RCV001549090]|not provided [RCV001610585]|not specified [RCV000248824] Chr1:99910892 [GRCh38]
Chr1:100376448 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) single nucleotide variant Glycogen storage disease type III [RCV000363737]|not provided [RCV000675334]|not specified [RCV000241565] Chr1:99892547 [GRCh38]
Chr1:100358103 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.207T>C (p.Asn69=) single nucleotide variant Glycogen storage disease type III [RCV000356965]|not provided [RCV000675318]|not specified [RCV000244020] Chr1:99861627 [GRCh38]
Chr1:100327183 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.3259+37G>A single nucleotide variant Glycogen storage disease type III [RCV001549089]|not provided [RCV000835491]|not specified [RCV000246558] Chr1:99892644 [GRCh38]
Chr1:100358200 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) single nucleotide variant Glycogen storage disease type III [RCV000324059]|not provided [RCV000675323]|not specified [RCV000246576] Chr1:99875226 [GRCh38]
Chr1:100340782 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) single nucleotide variant AGL-related disorder [RCV003891858]|Glycogen storage disease type III [RCV001083232]|Inborn genetic diseases [RCV004021002]|not provided [RCV000487867]|not specified [RCV000248989] Chr1:99884427 [GRCh38]
Chr1:100349983 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) single nucleotide variant Glycogen storage disease type III [RCV001082613]|not provided [RCV000675317]|not specified [RCV000241781] Chr1:99861532 [GRCh38]
Chr1:100327088 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.1612-24C>A single nucleotide variant Glycogen storage disease type III [RCV003343726]|not provided [RCV000675327]|not specified [RCV000249099] Chr1:99879899 [GRCh38]
Chr1:100345455 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2001+8T>C single nucleotide variant Glycogen storage disease type III [RCV000351044]|not provided [RCV000675330]|not specified [RCV000254071] Chr1:99881185 [GRCh38]
Chr1:100346741 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) single nucleotide variant Glycogen storage disease type III [RCV000335672]|not provided [RCV000675342]|not specified [RCV000251741] Chr1:99912417 [GRCh38]
Chr1:100377973 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.1481G>A (p.Arg494His) single nucleotide variant AGL-related disorder [RCV003891857]|Glycogen storage disease type III [RCV000280766]|not provided [RCV000514363]|not specified [RCV000244554] Chr1:99877698 [GRCh38]
Chr1:99877698..99877699 [GRCh38]
Chr1:100343254 [GRCh37]
Chr1:100343254..100343255 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.4482-274A>G single nucleotide variant not provided [RCV001571395] Chr1:99921260 [GRCh38]
Chr1:100386816 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1185+15T>C single nucleotide variant Glycogen storage disease type III [RCV000284153]|not provided [RCV000675325]|not specified [RCV000244667] Chr1:99875271 [GRCh38]
Chr1:100340827 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) single nucleotide variant Glycogen storage disease type III [RCV000332902]|not provided [RCV000675319]|not specified [RCV000244905] Chr1:99870421 [GRCh38]
Chr1:100335977 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) single nucleotide variant Glycogen storage disease type III [RCV000528226]|not provided [RCV003114419]|not specified [RCV000247331] Chr1:99902713 [GRCh38]
Chr1:100368269 [GRCh37]
Chr1:1p21.2		 benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.3700+32T>C single nucleotide variant Glycogen storage disease type III [RCV001807157]|not provided [RCV001668443]|not specified [RCV000252290] Chr1:99902826 [GRCh38]
Chr1:100368382 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) single nucleotide variant Glycogen storage disease type III [RCV000548846]|not provided [RCV003736679]|not specified [RCV000245022] Chr1:99891292 [GRCh38]
Chr1:100356848 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2950-21T>A single nucleotide variant Glycogen storage disease type III [RCV001549088]|not provided [RCV001610584]|not specified [RCV000249993] Chr1:99891585 [GRCh38]
Chr1:100357141 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) single nucleotide variant Glycogen storage disease type III [RCV001079502]|not provided [RCV000675339]|not specified [RCV000252381] Chr1:99900657 [GRCh38]
Chr1:100366213 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.3588+36T>G single nucleotide variant Glycogen storage disease type III [RCV001807156]|not provided [RCV001589244]|not specified [RCV000242751] Chr1:99900897 [GRCh38]
Chr1:100366453 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.2812+11G>A single nucleotide variant Glycogen storage disease type III [RCV000272751]|not provided [RCV000675332]|not specified [RCV000250101] Chr1:99888119 [GRCh38]
Chr1:100353675 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.1424-44A>G single nucleotide variant Glycogen storage disease type III [RCV001549087]|not provided [RCV001618395]|not specified [RCV000252556] Chr1:99877597 [GRCh38]
Chr1:100343153 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) single nucleotide variant Glycogen storage disease type III [RCV000324145]|not provided [RCV000675337]|not specified [RCV000247829] Chr1:99896369 [GRCh38]
Chr1:100361925 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.3260-20T>C single nucleotide variant Glycogen storage disease type III [RCV001807155]|not provided [RCV000675335]|not specified [RCV000243104] Chr1:99896266 [GRCh38]
Chr1:100361822 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.2802A>C (p.Ala934=) single nucleotide variant Glycogen storage disease type III [RCV001083631]|not provided [RCV000675331]|not specified [RCV000245574] Chr1:99888098 [GRCh38]
Chr1:100353654 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) single nucleotide variant Glycogen storage disease type III [RCV000528800]|Inborn genetic diseases [RCV002518581]|not provided [RCV001705337]|not specified [RCV000247999] Chr1:99876493 [GRCh38]
Chr1:100342049 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.*739A>G single nucleotide variant Glycogen storage disease type III [RCV000276734]|not provided [RCV004714636] Chr1:99922390 [GRCh38]
Chr1:100387946 [GRCh37]
Chr1:1p21.2		 benign|uncertain significance
NM_000642.3(AGL):c.83-33C>T single nucleotide variant Glycogen storage disease type III [RCV001807158]|not provided [RCV004714567]|not specified [RCV000248220] Chr1:99861470 [GRCh38]
Chr1:100327026 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.4162-12G>C single nucleotide variant Glycogen storage disease type III [RCV003517157]|not specified [RCV000248332] Chr1:99915377 [GRCh38]
Chr1:100380933 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.*2160C>T single nucleotide variant Glycogen storage disease type III [RCV000299363] Chr1:99923811 [GRCh38]
Chr1:100389367 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.2(AGL):c.-134C>G single nucleotide variant Glycogen storage disease type III [RCV000398722] Chr1:99850350 [GRCh38]
Chr1:100315906 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1296A>C single nucleotide variant Glycogen storage disease type III [RCV000398834]|not provided [RCV004713478] Chr1:99922947 [GRCh38]
Chr1:100388503 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.*732C>T single nucleotide variant Glycogen storage disease type III [RCV000355131]|not provided [RCV004714635] Chr1:99922383 [GRCh38]
Chr1:100387939 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.*575G>T single nucleotide variant Glycogen storage disease type III [RCV000356280] Chr1:99922226 [GRCh38]
Chr1:100387782 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.*1244T>A single nucleotide variant Glycogen storage disease type III [RCV000287605] Chr1:99922895 [GRCh38]
Chr1:100388451 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.*564T>C single nucleotide variant Glycogen storage disease type III [RCV000303780] Chr1:99922215 [GRCh38]
Chr1:100387771 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*292A>G single nucleotide variant Glycogen storage disease type III [RCV000304903] Chr1:99921943 [GRCh38]
Chr1:100387499 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*272G>T single nucleotide variant Glycogen storage disease type III [RCV000407316]|not provided [RCV001689959] Chr1:99921923 [GRCh38]
Chr1:100387479 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.*832G>A single nucleotide variant Glycogen storage disease type III [RCV000386252] Chr1:99922483 [GRCh38]
Chr1:100388039 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.2(AGL):c.-208C>T single nucleotide variant Glycogen storage disease type III [RCV000345635] Chr1:99850276 [GRCh38]
Chr1:100315832 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1028C>T single nucleotide variant Glycogen storage disease type III [RCV000294197]|not provided [RCV004714637] Chr1:99922679 [GRCh38]
Chr1:100388235 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2158-1G>A single nucleotide variant not provided [RCV000284368] Chr1:99881540 [GRCh38]
Chr1:100347096 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) single nucleotide variant AGL-related disorder [RCV003955425]|Glycogen storage disease type III [RCV000533130]|not provided [RCV001540741]|not specified [RCV000272436] Chr1:99892551 [GRCh38]
Chr1:100358107 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) single nucleotide variant AGL-related disorder [RCV003910031]|Glycogen storage disease type III [RCV001083614]|not provided [RCV000311310] Chr1:99880781 [GRCh38]
Chr1:100346337 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1996_1999delinsT (p.His666_Gln667delinsTer) indel not provided [RCV000330238] Chr1:99881172..99881175 [GRCh38]
Chr1:100346728..100346731 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.*670A>G single nucleotide variant Glycogen storage disease type III [RCV000263357] Chr1:99922321 [GRCh38]
Chr1:100387877 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) single nucleotide variant Glycogen storage disease type III [RCV000274306] Chr1:99870791 [GRCh38]
Chr1:100336347 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*562del deletion Glycogen storage disease type III [RCV000264990] Chr1:99922213 [GRCh38]
Chr1:100387769 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) single nucleotide variant Glycogen storage disease type III [RCV000686882]|Inborn genetic diseases [RCV004021222]|not provided [RCV000325436] Chr1:99912452 [GRCh38]
Chr1:100378008 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1087G>A (p.Gly363Arg) single nucleotide variant not provided [RCV000367701] Chr1:99875158 [GRCh38]
Chr1:100340714 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys) single nucleotide variant Glycogen storage disease type III [RCV001859545]|not provided [RCV000404530] Chr1:99913701 [GRCh38]
Chr1:100379257 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1735+5dup duplication Glycogen storage disease type III [RCV001041781]|not provided [RCV000300212] Chr1:99880049..99880050 [GRCh38]
Chr1:100345607 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2607A>G (p.Gln869=) single nucleotide variant Glycogen storage disease type III [RCV000823283]|not provided [RCV000370763] Chr1:99884629 [GRCh38]
Chr1:100350185 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.4018C>A (p.His1340Asn) single nucleotide variant not provided [RCV000407858] Chr1:99913595 [GRCh38]
Chr1:100379151 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1899+3A>G single nucleotide variant Glycogen storage disease type III [RCV001278800] Chr1:99880798 [GRCh38]
Chr1:100346354 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) single nucleotide variant Glycogen storage disease type III [RCV000526533]|not provided [RCV003480666] Chr1:99915441 [GRCh38]
Chr1:100380997 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.1263A>G (p.Arg421=) single nucleotide variant Glycogen storage disease type III [RCV001278799] Chr1:99875435 [GRCh38]
Chr1:100340991 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.2002-5T>A single nucleotide variant Glycogen storage disease type III [RCV001278801] Chr1:99881287 [GRCh38]
Chr1:100346843 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.2813-103A>C single nucleotide variant not provided [RCV001546818] Chr1:99891117 [GRCh38]
Chr1:100356673 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1551A>C (p.Ala517=) single nucleotide variant not provided [RCV000487666] Chr1:99877768 [GRCh38]
Chr1:100343324 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2506G>A (p.Glu836Lys) single nucleotide variant Glycogen storage disease type III [RCV000532606]|Inborn genetic diseases [RCV004619319] Chr1:99884411 [GRCh38]
Chr1:100349967 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.368C>T (p.Pro123Leu) single nucleotide variant Glycogen storage disease type III [RCV001277458] Chr1:99862331 [GRCh38]
Chr1:100327887 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) single nucleotide variant Glycogen storage disease type III [RCV000525633]|not provided [RCV000488240] Chr1:99916433 [GRCh38]
Chr1:100381989 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1256A>C single nucleotide variant Glycogen storage disease type III [RCV000344952] Chr1:99922907 [GRCh38]
Chr1:100388463 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*395C>T single nucleotide variant Glycogen storage disease type III [RCV000361907] Chr1:99922046 [GRCh38]
Chr1:100387602 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.959-72_965dup duplication Glycogen storage disease type III [RCV000527128] Chr1:99874614..99874615 [GRCh38]
Chr1:100340170..100340171 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) single nucleotide variant Glycogen storage disease type III [RCV000400990] Chr1:99916612 [GRCh38]
Chr1:100382168 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.78A>G (p.Glu26=) single nucleotide variant Glycogen storage disease type III [RCV000527491] Chr1:99851120 [GRCh38]
Chr1:100316676 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.*1952C>T single nucleotide variant Glycogen storage disease type III [RCV000402042] Chr1:99923603 [GRCh38]
Chr1:100389159 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*680T>A single nucleotide variant Glycogen storage disease type III [RCV000316745] Chr1:99922331 [GRCh38]
Chr1:100387887 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu) single nucleotide variant Glycogen storage disease type III [RCV000550624]|not provided [RCV003441917] Chr1:99884679 [GRCh38]
Chr1:100350235 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4413G>A (p.Pro1471=) single nucleotide variant Glycogen storage disease type III [RCV000554504] Chr1:99916663 [GRCh38]
Chr1:100382219 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.*794A>G single nucleotide variant Glycogen storage disease type III [RCV000334192] Chr1:99922445 [GRCh38]
Chr1:100388001 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4348-3dup duplication Glycogen storage disease type III [RCV000348466] Chr1:99916589..99916590 [GRCh38]
Chr1:100382145..100382146 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.*1075T>A single nucleotide variant Glycogen storage disease type III [RCV000385086] Chr1:99922726 [GRCh38]
Chr1:100388282 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*99del deletion Glycogen storage disease type III [RCV000308771] Chr1:99921750 [GRCh38]
Chr1:100387306 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1284-12A>C single nucleotide variant Glycogen storage disease type III [RCV000339151] Chr1:99876446 [GRCh38]
Chr1:100342002 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.*1691A>G single nucleotide variant Glycogen storage disease type III [RCV000339219] Chr1:99923342 [GRCh38]
Chr1:100388898 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1326A>G (p.Glu442=) single nucleotide variant Glycogen storage disease type III [RCV000375026] Chr1:99876500 [GRCh38]
Chr1:100342056 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.3589-14T>G single nucleotide variant Glycogen storage disease type III [RCV000375065] Chr1:99902669 [GRCh38]
Chr1:100368225 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1047A>T single nucleotide variant Glycogen storage disease type III [RCV000328273] Chr1:99922698 [GRCh38]
Chr1:100388254 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*105T>C single nucleotide variant Glycogen storage disease type III [RCV000344546] Chr1:99921756 [GRCh38]
Chr1:100387312 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3741T>C (p.Phe1247=) single nucleotide variant Glycogen storage disease type III [RCV002529691]|not specified [RCV000606345] Chr1:99910752 [GRCh38]
Chr1:100376308 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile) single nucleotide variant Glycogen storage disease type III [RCV000549777]|Inborn genetic diseases [RCV002527672] Chr1:99900819 [GRCh38]
Chr1:100366375 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3493T>A (p.Cys1165Ser) single nucleotide variant Glycogen storage disease type III [RCV000806379] Chr1:99900766 [GRCh38]
Chr1:100366322 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1284-4A>G single nucleotide variant AGL-related disorder [RCV003905329]|Glycogen storage disease type III [RCV000555053]|not provided [RCV001591193] Chr1:99876454 [GRCh38]
Chr1:100342010 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3084-8T>C single nucleotide variant Glycogen storage disease type III [RCV000555463] Chr1:99892424 [GRCh38]
Chr1:100357980 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.931G>A (p.Glu311Lys) single nucleotide variant Glycogen storage disease type III [RCV000703843]|not provided [RCV000593583] Chr1:99870842 [GRCh38]
Chr1:100336398 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) single nucleotide variant Glycogen storage disease type III [RCV000532420] Chr1:99902762 [GRCh38]
Chr1:100368318 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.348_373del (p.Ala117fs) deletion Glycogen storage disease type III [RCV000409064] Chr1:99862307..99862332 [GRCh38]
Chr1:100327863..100327888 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3363-1G>A single nucleotide variant Glycogen storage disease type III [RCV000409092] Chr1:99900635 [GRCh38]
Chr1:100366191 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs) microsatellite Glycogen storage disease type III [RCV000409167] Chr1:99877812..99877813 [GRCh38]
Chr1:100343368..100343369 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter) single nucleotide variant Glycogen storage disease type III [RCV000409250] Chr1:99884627 [GRCh38]
Chr1:100350183 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2278del (p.Ser760fs) deletion Glycogen storage disease type III [RCV000409251] Chr1:99881661 [GRCh38]
Chr1:100347217 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.460+7T>C single nucleotide variant Glycogen storage disease type III [RCV000556613] Chr1:99862430 [GRCh38]
Chr1:100327986 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs) deletion Glycogen storage disease type III [RCV000409452] Chr1:99915401..99915402 [GRCh38]
Chr1:100380957..100380958 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs) deletion Glycogen storage disease type III [RCV000409510] Chr1:99875238..99875241 [GRCh38]
Chr1:100340794..100340797 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.276del (p.Gln92fs) deletion Glycogen storage disease type III [RCV000409554] Chr1:99861696 [GRCh38]
Chr1:100327252 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.753_756del (p.Asp251fs) deletion Glycogen storage disease type III [RCV000409582]|not provided [RCV001008814] Chr1:99870485..99870488 [GRCh38]
Chr1:100336041..100336044 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3237A>G (p.Gln1079=) single nucleotide variant Glycogen storage disease type III [RCV000536741] Chr1:99892585 [GRCh38]
Chr1:100358141 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1082+76_1082+78del deletion not provided [RCV001546088] Chr1:99874886..99874888 [GRCh38]
Chr1:100340442..100340444 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) duplication Glycogen storage disease type III [RCV000409602]|not provided [RCV000481572] Chr1:99916470..99916471 [GRCh38]
Chr1:100382026..100382027 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.140dup (p.Tyr47Ter) duplication Glycogen storage disease type III [RCV000409607] Chr1:99861559..99861560 [GRCh38]
Chr1:100327115..100327116 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2525del (p.Pro842fs) deletion Glycogen storage disease type III [RCV000409805] Chr1:99884429 [GRCh38]
Chr1:100349985 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.293+1del deletion Glycogen storage disease type III [RCV000409817]|not provided [RCV001509044] Chr1:99861712 [GRCh38]
Chr1:100327268 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2011_2012del (p.Val671fs) deletion Glycogen storage disease type III [RCV000410044] Chr1:99881301..99881302 [GRCh38]
Chr1:100346857..100346858 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) single nucleotide variant Glycogen storage disease type III [RCV000410062] Chr1:99851064 [GRCh38]
Chr1:100316620 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter) duplication Glycogen storage disease type III [RCV000410096] Chr1:99900715..99900716 [GRCh38]
Chr1:100366271..100366272 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3554del (p.Thr1185fs) deletion Glycogen storage disease type III [RCV000409329] Chr1:99900827 [GRCh38]
Chr1:100366383 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) microsatellite Glycogen storage disease type III [RCV000410186] Chr1:99910825..99910826 [GRCh38]
Chr1:100376381..100376382 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) single nucleotide variant Glycogen storage disease type III [RCV000410214] Chr1:99861524 [GRCh38]
Chr1:100327080 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.294-1G>C single nucleotide variant Glycogen storage disease type III [RCV000410759] Chr1:99862256 [GRCh38]
Chr1:100327812 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) single nucleotide variant Glycogen storage disease type III [RCV000411951]|not provided [RCV001092051] Chr1:99874806 [GRCh38]
Chr1:100340362 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) single nucleotide variant Glycogen storage disease type III [RCV000412306]|not provided [RCV003238758] Chr1:99891336 [GRCh38]
Chr1:100356892 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3011del (p.Pro1004fs) deletion Glycogen storage disease type III [RCV000410491] Chr1:99891665 [GRCh38]
Chr1:100357221 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.64del (p.Leu22fs) deletion Glycogen storage disease type III [RCV000410625] Chr1:99851104 [GRCh38]
Chr1:100316660 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.437del (p.Arg146fs) deletion Glycogen storage disease type III [RCV000410655] Chr1:99862400 [GRCh38]
Chr1:100327956 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter) single nucleotide variant Glycogen storage disease type III [RCV000410795] Chr1:99880678 [GRCh38]
Chr1:100346234 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter) duplication Glycogen storage disease type III [RCV000410845] Chr1:99910817..99910818 [GRCh38]
Chr1:100376373..100376374 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr) single nucleotide variant Glycogen storage disease type III [RCV000559891]|Inborn genetic diseases [RCV002525286]|not provided [RCV001843528] Chr1:99880791 [GRCh38]
Chr1:100346347 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) single nucleotide variant Glycogen storage disease type III [RCV000539311] Chr1:99877697 [GRCh38]
Chr1:100343253 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3836+4G>A single nucleotide variant Glycogen storage disease type III [RCV000560219]|not provided [RCV000675341] Chr1:99910851 [GRCh38]
Chr1:100376407 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) single nucleotide variant Glycogen storage disease type III [RCV000539077]|not specified [RCV003330750] Chr1:99902729 [GRCh38]
Chr1:100368285 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2001+2T>C single nucleotide variant Glycogen storage disease type III [RCV000411342] Chr1:99881179 [GRCh38]
Chr1:100346735 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1400del (p.Pro467fs) deletion Glycogen storage disease type III [RCV000411414] Chr1:99876573 [GRCh38]
Chr1:100342129 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2280C>T (p.Ser760=) single nucleotide variant Glycogen storage disease type III [RCV000555617]|not provided [RCV004597817] Chr1:99881663 [GRCh38]
Chr1:100347219 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) duplication Glycogen storage disease type III [RCV000412031] Chr1:99912471..99912472 [GRCh38]
Chr1:100378027..100378028 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.294-2A>T single nucleotide variant Glycogen storage disease type III [RCV000412181]|not provided [RCV002058838] Chr1:99862255 [GRCh38]
Chr1:100327811 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2538dup (p.Ile847fs) duplication Glycogen storage disease type III [RCV000412255] Chr1:99884441..99884442 [GRCh38]
Chr1:100349997..100349998 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.672dup (p.Ser225Ter) duplication Glycogen storage disease type III [RCV000412273] Chr1:99870406..99870407 [GRCh38]
Chr1:100335962..100335963 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2950-1G>A single nucleotide variant Glycogen storage disease type III [RCV000412447] Chr1:99891605 [GRCh38]
Chr1:100357161 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.442del (p.Arg148fs) deletion Glycogen storage disease type III [RCV000412473] Chr1:99862405 [GRCh38]
Chr1:100327961 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1185+1G>A single nucleotide variant Glycogen storage disease type III [RCV000412479] Chr1:99875257 [GRCh38]
Chr1:100340813 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) single nucleotide variant AGL-related disorder [RCV003960263]|Glycogen storage disease type III [RCV000542014]|not provided [RCV001564191] Chr1:99874696 [GRCh38]
Chr1:100340252 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) single nucleotide variant Glycogen storage disease type III [RCV000542111]|Inborn genetic diseases [RCV002528305] Chr1:99891337 [GRCh38]
Chr1:100356893 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) single nucleotide variant Glycogen storage disease type III [RCV000415279] Chr1:99916603 [GRCh38]
Chr1:100382159 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3836+1G>A single nucleotide variant Glycogen storage disease type III [RCV000415293] Chr1:99910848 [GRCh38]
Chr1:100376404 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) single nucleotide variant AGL-related disorder [RCV003905330]|Glycogen storage disease type III [RCV000556035]|not provided [RCV001591194] Chr1:99910775 [GRCh38]
Chr1:100376331 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.3083+2T>C single nucleotide variant Glycogen storage disease type III [RCV000409012] Chr1:99891741 [GRCh38]
Chr1:100357297 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2522C>A (p.Ser841Tyr) single nucleotide variant Glycogen storage disease type III [RCV001828445]|not provided [RCV000420767] Chr1:99884427 [GRCh38]
Chr1:100349983 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) single nucleotide variant Glycogen storage disease type III [RCV000548159]|Inborn genetic diseases [RCV004022401]|Meniere disease [RCV004567914]|not provided [RCV000434478] Chr1:99870765 [GRCh38]
Chr1:100336321 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1718_1720dup (p.Ile573_Ser574insIle) duplication Glycogen storage disease type III [RCV000531001] Chr1:99880027..99880028 [GRCh38]
Chr1:100345583..100345584 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1612-10C>G single nucleotide variant not specified [RCV000442066] Chr1:99879913 [GRCh38]
Chr1:100345469 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.261A>G (p.Gln87=) single nucleotide variant AGL-related disorder [RCV003970228]|Glycogen storage disease type III [RCV000535859]|not specified [RCV000421179] Chr1:99861681 [GRCh38]
Chr1:100327237 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.954A>G (p.Thr318=) single nucleotide variant Glycogen storage disease type III [RCV003633507]|not specified [RCV000438711] Chr1:99870865 [GRCh38]
Chr1:100336421 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3822C>T (p.Ile1274=) single nucleotide variant Glycogen storage disease type III [RCV000545399]|not provided [RCV001698146] Chr1:99910833 [GRCh38]
Chr1:100376389 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1423+1G>T single nucleotide variant Glycogen storage disease type III [RCV002522527]|not provided [RCV000421402] Chr1:99876598 [GRCh38]
Chr1:100342154 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.4119T>C (p.Cys1373=) single nucleotide variant Glycogen storage disease type III [RCV001477508]|not specified [RCV000419037] Chr1:99913696 [GRCh38]
Chr1:100379252 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3696C>T (p.Asp1232=) single nucleotide variant Glycogen storage disease type III [RCV000631168]|not specified [RCV000432210] Chr1:99902790 [GRCh38]
Chr1:100368346 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) single nucleotide variant AGL-related disorder [RCV003912603]|Glycogen storage disease type III [RCV001083855]|not provided [RCV000425245] Chr1:99916680 [GRCh38]
Chr1:100382236 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.1875G>T (p.Thr625=) single nucleotide variant Glycogen storage disease type III [RCV001085237]|not provided [RCV000675328] Chr1:99880771 [GRCh38]
Chr1:100346327 [GRCh37]
Chr1:1p21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1900-6T>C single nucleotide variant AGL-related disorder [RCV003897887]|Glycogen storage disease type III [RCV001503716]|not specified [RCV000436225] Chr1:99881070 [GRCh38]
Chr1:100346626 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.959-53A>T single nucleotide variant not provided [RCV004711054]|not specified [RCV000436243] Chr1:99874634 [GRCh38]
Chr1:100340190 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.-69+11G>C single nucleotide variant not specified [RCV000443410] Chr1:99850426 [GRCh38]
Chr1:100315982 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4164C>G (p.Ala1388=) single nucleotide variant Glycogen storage disease type III [RCV000631177]|not specified [RCV000425853] Chr1:99915391 [GRCh38]
Chr1:100380947 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3589-19C>T single nucleotide variant Glycogen storage disease type III [RCV002062492]|not specified [RCV000429544] Chr1:99902664 [GRCh38]
Chr1:100368220 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2949+20C>T single nucleotide variant Glycogen storage disease type III [RCV002063369]|not specified [RCV000433060] Chr1:99891376 [GRCh38]
Chr1:100356932 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.3792A>T (p.Gly1264=) single nucleotide variant Glycogen storage disease type III [RCV000530507]|not provided [RCV000443781] Chr1:99910803 [GRCh38]
Chr1:100376359 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.3701-5T>G single nucleotide variant Glycogen storage disease type III [RCV002522508]|not specified [RCV000433390] Chr1:99910707 [GRCh38]
Chr1:100376263 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3700+14A>G single nucleotide variant Glycogen storage disease type III [RCV002063579]|not specified [RCV000436770] Chr1:99902808 [GRCh38]
Chr1:100368364 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.846+14G>A single nucleotide variant Glycogen storage disease type III [RCV001102149]|not specified [RCV000440621] Chr1:99870595 [GRCh38]
Chr1:100336151 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.4539C>T (p.Phe1513=) single nucleotide variant Glycogen storage disease type III [RCV001428791]|not specified [RCV000426730] Chr1:99921591 [GRCh38]
Chr1:100387147 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) single nucleotide variant Glycogen storage disease type III [RCV000527235]|not provided [RCV000430667] Chr1:99891324 [GRCh38]
Chr1:100356880 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4482-18G>A single nucleotide variant Glycogen storage disease type III [RCV002065057]|not specified [RCV000441084] Chr1:99921516 [GRCh38]
Chr1:100387072 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.-76C>G single nucleotide variant not specified [RCV000444876] Chr1:99850408 [GRCh38]
Chr1:100315964 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs) deletion Glycogen storage disease type III [RCV003633509]|not provided [RCV000482459] Chr1:99921556..99921560 [GRCh38]
Chr1:100387112..100387116 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) single nucleotide variant Glycogen storage disease type III [RCV000701371]|Inborn genetic diseases [RCV003258825]|not provided [RCV000484219] Chr1:99884391 [GRCh38]
Chr1:100349947 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.959-61_959-60insTGACAGTTATAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG insertion not specified [RCV000484469] Chr1:99874626..99874627 [GRCh38]
Chr1:100340182..100340183 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2977_2982del (p.Phe993_Tyr994del) deletion not provided [RCV000482990] Chr1:99891632..99891637 [GRCh38]
Chr1:100357188..100357193 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) single nucleotide variant Glycogen storage disease [RCV000825508]|Glycogen storage disease type III [RCV000531434] Chr1:99916709 [GRCh38]
Chr1:100382265 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) single nucleotide variant Glycogen storage disease type III [RCV000553978]|not provided [RCV000730413] Chr1:99902746 [GRCh38]
Chr1:100368302 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2001+8_2001+9delinsCT indel Glycogen storage disease type III [RCV002063733]|not specified [RCV000486550] Chr1:99881185..99881186 [GRCh38]
Chr1:100346741..100346742 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2158-18_2158-16del microsatellite Glycogen storage disease type III [RCV002056804]|not provided [RCV003736792]|not specified [RCV000483063] Chr1:99881520..99881522 [GRCh38]
Chr1:100347076..100347078 [GRCh37]
Chr1:1p21.2		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) microsatellite Glycogen storage disease IIIa [RCV000590818]|Glycogen storage disease type III [RCV000596959]|not provided [RCV000497957] Chr1:99892562..99892563 [GRCh38]
Chr1:100358118..100358119 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) single nucleotide variant Glycogen storage disease type III [RCV000667797]|not provided [RCV000493598]|not specified [RCV002282176] Chr1:99874755 [GRCh38]
Chr1:100340311 [GRCh37]
Chr1:1p21.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.767G>A (p.Arg256His) single nucleotide variant Glycogen storage disease type III [RCV000549049]|Inborn genetic diseases [RCV004023425]|not specified [RCV000506088] Chr1:99870502 [GRCh38]
Chr1:100336058 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000642.3(AGL):c.341G>A (p.Arg114His) single nucleotide variant Glycogen storage disease type III [RCV000699069]|Inborn genetic diseases [RCV002534368]|not provided [RCV003151807]|not specified [RCV003330911] Chr1:99862304 [GRCh38]
Chr1:100327860 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1553C>G (p.Thr518Ser) single nucleotide variant Glycogen storage disease type III [RCV000532066] Chr1:99877770 [GRCh38]
Chr1:100343326 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2481G>C (p.Gly827=) single nucleotide variant Glycogen storage disease type III [RCV001435823] Chr1:99884386 [GRCh38]
Chr1:100349942 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2955T>C (p.Gly985=) single nucleotide variant Glycogen storage disease type III [RCV000530313] Chr1:99891611 [GRCh38]
Chr1:100357167 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.193C>G (p.Leu65Val) single nucleotide variant Glycogen storage disease type III [RCV000538009] Chr1:99861613 [GRCh38]
Chr1:100327169 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) single nucleotide variant Glycogen storage disease type III [RCV000984242]|not provided [RCV000593952] Chr1:99861709 [GRCh38]
Chr1:100327265 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) single nucleotide variant Glycogen storage disease type III [RCV000631128]|Inborn genetic diseases [RCV002528852]|Meniere disease [RCV004568371] Chr1:99900724 [GRCh38]
Chr1:100366280 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) single nucleotide variant Glycogen storage disease type III [RCV000631137] Chr1:99861661 [GRCh38]
Chr1:100327217 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) single nucleotide variant Glycogen storage disease type III [RCV000631154]|not provided [RCV002261137] Chr1:99912458 [GRCh38]
Chr1:100378014 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1892C>G (p.Pro631Arg) single nucleotide variant Glycogen storage disease type III [RCV000631156] Chr1:99880788 [GRCh38]
Chr1:100346344 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3359C>G (p.Ala1120Gly) single nucleotide variant Glycogen storage disease type III [RCV000631157] Chr1:99896385 [GRCh38]
Chr1:100361941 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) single nucleotide variant Glycogen storage disease type III [RCV000631158]|Inborn genetic diseases [RCV002533176]|Meniere disease [RCV004568372]|not provided [RCV001574448] Chr1:99913653 [GRCh38]
Chr1:100379209 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) single nucleotide variant AGL-related disorder [RCV003935403]|Glycogen storage disease type III [RCV000556733]|Inborn genetic diseases [RCV002527670]|not provided [RCV001509048] Chr1:99880706 [GRCh38]
Chr1:100346262 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) single nucleotide variant Glycogen storage disease type III [RCV000537865]|Inborn genetic diseases [RCV002527426]|not provided [RCV000513969] Chr1:99874756 [GRCh38]
Chr1:100340312 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg) single nucleotide variant Glycogen storage disease type III [RCV000524757]|not provided [RCV001755796] Chr1:99875398 [GRCh38]
Chr1:100340954 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3353T>G (p.Val1118Gly) single nucleotide variant Inborn genetic diseases [RCV003274459] Chr1:99896379 [GRCh38]
Chr1:100361935 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.959-15T>C single nucleotide variant Glycogen storage disease type III [RCV002063000]|not specified [RCV000604539] Chr1:99874672 [GRCh38]
Chr1:100340228 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys) single nucleotide variant Glycogen storage disease type III [RCV000557948]|Inborn genetic diseases [RCV002527671] Chr1:99896372 [GRCh38]
Chr1:100361928 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter) single nucleotide variant Glycogen storage disease type III [RCV000631149] Chr1:99879925 [GRCh38]
Chr1:100345481 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) single nucleotide variant Glycogen storage disease type III [RCV000631123] Chr1:99884580 [GRCh38]
Chr1:100350136 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1082+4T>A single nucleotide variant Glycogen storage disease type III [RCV001062252]|not specified [RCV000599977] Chr1:99874814 [GRCh38]
Chr1:100340370 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) single nucleotide variant Glycogen storage disease type III [RCV000631127]|not provided [RCV004691261] Chr1:99881109 [GRCh38]
Chr1:100346665 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) single nucleotide variant Glycogen storage disease type III [RCV000631133] Chr1:99896316 [GRCh38]
Chr1:100361872 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.3884G>T (p.Arg1295Leu) single nucleotide variant Glycogen storage disease type III [RCV000631134] Chr1:99912452 [GRCh38]
Chr1:100378008 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1424G>T (p.Gly475Val) single nucleotide variant Glycogen storage disease type III [RCV000631138] Chr1:99877641 [GRCh38]
Chr1:100343197 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4209T>G (p.Ile1403Met) single nucleotide variant Glycogen storage disease type III [RCV000631142] Chr1:99915436 [GRCh38]
Chr1:100380992 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1333A>G (p.Met445Val) single nucleotide variant Glycogen storage disease type III [RCV000631151]|not provided [RCV003480722] Chr1:99876507 [GRCh38]
Chr1:100342063 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.4079G>A (p.Gly1360Asp) single nucleotide variant Glycogen storage disease type III [RCV000631161] Chr1:99913656 [GRCh38]
Chr1:100379212 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4398C>T (p.Ser1466=) single nucleotide variant Glycogen storage disease type III [RCV000631173] Chr1:99916648 [GRCh38]
Chr1:100382204 [GRCh37]
Chr1:1p21.2		 likely benign
NM_001425332.1(AGL):c.83-2882del deletion Glycogen storage disease type III [RCV000672303] Chr1:99861502 [GRCh38]
Chr1:100327058 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) single nucleotide variant Glycogen storage disease type III [RCV000559055]|Inborn genetic diseases [RCV004023753] Chr1:99874804 [GRCh38]
Chr1:100340360 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1102del (p.Glu368fs) deletion Glycogen storage disease type III [RCV000559264]|not provided [RCV000786274] Chr1:99875173 [GRCh38]
Chr1:100340729 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3141G>T (p.Leu1047=) single nucleotide variant Glycogen storage disease type III [RCV000559653] Chr1:99892489 [GRCh38]
Chr1:100358045 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2465G>C (p.Gly822Ala) single nucleotide variant Glycogen storage disease type III [RCV000631150] Chr1:99884370 [GRCh38]
Chr1:100349926 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1749A>G (p.Ala583=) single nucleotide variant Glycogen storage disease type III [RCV000631174] Chr1:99880645 [GRCh38]
Chr1:100346201 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2763G>C (p.Gly921=) single nucleotide variant Glycogen storage disease type III [RCV000534229] Chr1:99888059 [GRCh38]
Chr1:100353615 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1533dup (p.Tyr512fs) duplication Glycogen storage disease type III [RCV000631124] Chr1:99877744..99877745 [GRCh38]
Chr1:100343300..100343301 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.467A>G (p.Asn156Ser) single nucleotide variant Glycogen storage disease type III [RCV000631135] Chr1:99864392 [GRCh38]
Chr1:100329948 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3416T>G (p.Leu1139Arg) single nucleotide variant Glycogen storage disease type III [RCV000631152] Chr1:99900689 [GRCh38]
Chr1:100366245 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3133G>C (p.Val1045Leu) single nucleotide variant Glycogen storage disease type III [RCV000631121] Chr1:99892481 [GRCh38]
Chr1:100358037 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) single nucleotide variant Glycogen storage disease type III [RCV000631131] Chr1:99874695 [GRCh38]
Chr1:100340251 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) single nucleotide variant Glycogen storage disease type III [RCV000631132]|not provided [RCV003318609] Chr1:99900805 [GRCh38]
Chr1:100366361 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) single nucleotide variant Glycogen storage disease type III [RCV000631143]|Inborn genetic diseases [RCV004025396] Chr1:99877769 [GRCh38]
Chr1:100343325 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2088C>T (p.Ser696=) single nucleotide variant Glycogen storage disease type III [RCV000555834]|not provided [RCV003114654] Chr1:99881378 [GRCh38]
Chr1:100346934 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1196G>A (p.Cys399Tyr) single nucleotide variant Glycogen storage disease type III [RCV000631153] Chr1:99875368 [GRCh38]
Chr1:100340924 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2623A>G (p.Lys875Glu) single nucleotide variant Glycogen storage disease type III [RCV000631155] Chr1:99884645 [GRCh38]
Chr1:100350201 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.656A>G (p.Asn219Ser) single nucleotide variant Glycogen storage disease type III [RCV000631159] Chr1:99864581 [GRCh38]
Chr1:100330137 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.340C>T (p.Arg114Cys) single nucleotide variant Glycogen storage disease type III [RCV000631160] Chr1:99862303 [GRCh38]
Chr1:100327859 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.108C>T (p.Gly36=) single nucleotide variant Glycogen storage disease type III [RCV000631170] Chr1:99861528 [GRCh38]
Chr1:100327084 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4368G>A (p.Gly1456=) single nucleotide variant Glycogen storage disease type III [RCV000631172] Chr1:99916618 [GRCh38]
Chr1:100382174 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3026C>T (p.Ala1009Val) single nucleotide variant Glycogen storage disease type III [RCV000540615] Chr1:99891682 [GRCh38]
Chr1:100357238 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) single nucleotide variant Glycogen storage disease type III [RCV000537200]|not provided [RCV001697017]|not specified [RCV000596686] Chr1:99913604 [GRCh38]
Chr1:100379160 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.378T>A (p.Cys126Ter) single nucleotide variant Glycogen storage disease type III [RCV000625692] Chr1:99862341 [GRCh38]
Chr1:100327897 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.846+8T>A single nucleotide variant AGL-related disorder [RCV003392365]|Glycogen storage disease type III [RCV000537803] Chr1:99870589 [GRCh38]
Chr1:100336145 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4482-19T>C single nucleotide variant Glycogen storage disease type III [RCV002531588]|not specified [RCV000613403] Chr1:99921515 [GRCh38]
Chr1:100387071 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) single nucleotide variant Glycogen storage disease type III [RCV000557259] Chr1:99884613 [GRCh38]
Chr1:100350169 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.293+3A>G single nucleotide variant Glycogen storage disease type III [RCV000686891]|not specified [RCV000611136] Chr1:99861716 [GRCh38]
Chr1:100327272 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1000dup (p.Thr334fs) duplication Glycogen storage disease type III [RCV002532840]|Inborn genetic diseases [RCV000623129] Chr1:99874727..99874728 [GRCh38]
Chr1:100340283..100340284 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) single nucleotide variant Glycogen storage disease type III [RCV000539463] Chr1:99875413 [GRCh38]
Chr1:100340969 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.83-34A>G single nucleotide variant not specified [RCV000608714] Chr1:99861469 [GRCh38]
Chr1:100327025 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.621A>G (p.Glu207=) single nucleotide variant Glycogen storage disease type III [RCV000535630] Chr1:99864546 [GRCh38]
Chr1:100330102 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4347+1G>A single nucleotide variant Glycogen storage disease type III [RCV000539632] Chr1:99916498 [GRCh38]
Chr1:100382054 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.103T>C (p.Leu35=) single nucleotide variant Glycogen storage disease type III [RCV000960729]|not specified [RCV000611682] Chr1:99861523 [GRCh38]
Chr1:100327079 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2001+5G>A single nucleotide variant Glycogen storage disease type III [RCV000631129] Chr1:99881182 [GRCh38]
Chr1:100346738 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.4120G>C (p.Asp1374His) single nucleotide variant Glycogen storage disease type III [RCV000631136] Chr1:99913697 [GRCh38]
Chr1:100379253 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1250G>C (p.Gly417Ala) single nucleotide variant Glycogen storage disease type III [RCV000631139] Chr1:99875422 [GRCh38]
Chr1:100340978 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln) single nucleotide variant Glycogen storage disease type III [RCV000631140]|Inborn genetic diseases [RCV002533175] Chr1:99884393 [GRCh38]
Chr1:100349949 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4300A>G (p.Asn1434Asp) single nucleotide variant Glycogen storage disease type III [RCV000539987]|not provided [RCV003480667] Chr1:99916450 [GRCh38]
Chr1:100382006 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2434-19del deletion not specified [RCV000611835] Chr1:99884314 [GRCh38]
Chr1:100349870 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3127G>T (p.Gly1043Cys) single nucleotide variant Glycogen storage disease type III [RCV000631144] Chr1:99892475 [GRCh38]
Chr1:100358031 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2172A>G (p.Gln724=) single nucleotide variant Glycogen storage disease type III [RCV000631145] Chr1:99881555 [GRCh38]
Chr1:100347111 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2950-5T>G single nucleotide variant Glycogen storage disease type III [RCV000631146] Chr1:99891601 [GRCh38]
Chr1:100357157 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.2441A>C (p.Glu814Ala) single nucleotide variant Glycogen storage disease type III [RCV000631166] Chr1:99884346 [GRCh38]
Chr1:100349902 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu) single nucleotide variant Glycogen storage disease type III [RCV000540028] Chr1:99881653 [GRCh38]
Chr1:100347209 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.847-20dup duplication not specified [RCV000614862] Chr1:99870732..99870733 [GRCh38]
Chr1:100336288..100336289 [GRCh37]
Chr1:1p21.2		 likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) single nucleotide variant Glycogen storage disease type III [RCV000631125] Chr1:99877654 [GRCh38]
Chr1:100343210 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3535G>T (p.Val1179Phe) single nucleotide variant Glycogen storage disease type III [RCV000631126] Chr1:99900808 [GRCh38]
Chr1:100366364 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.939del (p.Phe313fs) deletion Glycogen storage disease type III [RCV000631130] Chr1:99870848 [GRCh38]
Chr1:100336404 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs) microsatellite Glycogen storage disease type III [RCV000631141] Chr1:99875397..99875400 [GRCh38]
Chr1:100340953..100340956 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2308+16A>G single nucleotide variant not specified [RCV000603874] Chr1:99881707 [GRCh38]
Chr1:100347263 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys) single nucleotide variant Glycogen storage disease type III [RCV000631148] Chr1:99881379 [GRCh38]
Chr1:100346935 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2681+4dup duplication Glycogen storage disease type III [RCV000631162] Chr1:99884705..99884706 [GRCh38]
Chr1:100350261..100350262 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) single nucleotide variant Glycogen storage disease type III [RCV000631164]|not specified [RCV004586843] Chr1:99877794 [GRCh38]
Chr1:100343350 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser) single nucleotide variant Glycogen storage disease type III [RCV000631165] Chr1:99910823 [GRCh38]
Chr1:100376379 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1302T>C (p.Phe434=) single nucleotide variant Glycogen storage disease type III [RCV000631176] Chr1:99876476 [GRCh38]
Chr1:100342032 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1062A>G (p.Leu354=) single nucleotide variant not specified [RCV000607455] Chr1:99874790 [GRCh38]
Chr1:100340346 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2337T>C (p.Ala779=) single nucleotide variant Glycogen storage disease type III [RCV001426169]|not specified [RCV000607682] Chr1:99884148 [GRCh38]
Chr1:100349704 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2632A>C (p.Ser878Arg) single nucleotide variant Glycogen storage disease type III [RCV000631122] Chr1:99884654 [GRCh38]
Chr1:100350210 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3611T>C (p.Ile1204Thr) single nucleotide variant Glycogen storage disease type III [RCV000631163] Chr1:99902705 [GRCh38]
Chr1:100368261 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3692A>G (p.Lys1231Arg) single nucleotide variant Glycogen storage disease type III [RCV000631167] Chr1:99902786 [GRCh38]
Chr1:100368342 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) single nucleotide variant Glycogen storage disease type III [RCV000631169]|not provided [RCV001662675] Chr1:99921627 [GRCh38]
Chr1:100387183 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.4481+10C>G single nucleotide variant Glycogen storage disease type III [RCV000631171] Chr1:99916741 [GRCh38]
Chr1:100382297 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) single nucleotide variant Glycogen storage disease type III [RCV000664775] Chr1:99870764 [GRCh38]
Chr1:100336320 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3405C>T (p.Leu1135=) single nucleotide variant Glycogen storage disease type III [RCV000631175] Chr1:99900678 [GRCh38]
Chr1:100366234 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) single nucleotide variant Glycogen storage disease type III [RCV000796907]|not provided [RCV000675326] Chr1:99877649 [GRCh38]
Chr1:100343205 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1971A>G (p.Thr657=) single nucleotide variant Glycogen storage disease type III [RCV002531371]|not provided [RCV000675329] Chr1:99881147 [GRCh38]
Chr1:100346703 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3362+22T>A single nucleotide variant not provided [RCV000675338] Chr1:99896410 [GRCh38]
Chr1:100361966 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) single nucleotide variant Glycogen storage disease type III [RCV000673314]|not provided [RCV000675340] Chr1:99902707 [GRCh38]
Chr1:100368263 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del) deletion Glycogen storage disease type III [RCV000672173] Chr1:99916713..99916715 [GRCh38]
Chr1:100382269..100382271 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) single nucleotide variant Glycogen storage disease type III [RCV000673265] Chr1:99915416 [GRCh38]
Chr1:100380972 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.2670del (p.Pro891fs) deletion Glycogen storage disease type III [RCV001062864]|not provided [RCV000658137] Chr1:99884691 [GRCh38]
Chr1:100350247 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.305G>T (p.Ser102Ile) single nucleotide variant not provided [RCV000658518] Chr1:99862268 [GRCh38]
Chr1:100327824 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.664+1G>A single nucleotide variant Glycogen storage disease type III [RCV000664952] Chr1:99864590 [GRCh38]
Chr1:100330146 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.2949+2T>A single nucleotide variant Glycogen storage disease type III [RCV000669661] Chr1:99891358 [GRCh38]
Chr1:100356914 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer) deletion Glycogen storage disease type III [RCV000671431] Chr1:99877748..99877757 [GRCh38]
Chr1:100343304..100343313 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del) microsatellite Glycogen storage disease type III [RCV000665061] Chr1:99891630..99891632 [GRCh38]
Chr1:100357186..100357188 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2158-2A>G single nucleotide variant Glycogen storage disease type III [RCV000673863] Chr1:99881539 [GRCh38]
Chr1:100347095 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs) deletion Glycogen storage disease type III [RCV000667876] Chr1:99891312..99891313 [GRCh38]
Chr1:100356868..100356869 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) single nucleotide variant Glycogen storage disease type III [RCV000670429] Chr1:99877806 [GRCh38]
Chr1:100343362 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3589-1G>A single nucleotide variant Glycogen storage disease type III [RCV000665591] Chr1:99902682 [GRCh38]
Chr1:100368238 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.500dup (p.Leu168fs) duplication Glycogen storage disease type III [RCV000665707] Chr1:99864423..99864424 [GRCh38]
Chr1:100329979..100329980 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3191_3193dup (p.Met1064_Asp1065insVal) duplication Glycogen storage disease type III [RCV000674462] Chr1:99892538..99892539 [GRCh38]
Chr1:100358094..100358095 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.83-17_83-16del deletion Glycogen storage disease type III [RCV000666048] Chr1:99861486..99861487 [GRCh38]
Chr1:100327042..100327043 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3G>C (p.Met1Ile) single nucleotide variant Glycogen storage disease type III [RCV000666939] Chr1:99851045 [GRCh38]
Chr1:100316601 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs) deletion Glycogen storage disease type III [RCV000672661] Chr1:99881606..99881607 [GRCh38]
Chr1:100347162..100347163 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.83-29G>T single nucleotide variant Glycogen storage disease type III [RCV000672854] Chr1:99861474 [GRCh38]
Chr1:100327030 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3362+1G>A single nucleotide variant Glycogen storage disease type III [RCV000672877] Chr1:99896389 [GRCh38]
Chr1:100361945 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs) deletion Glycogen storage disease type III [RCV000674815] Chr1:99888010..99888014 [GRCh38]
Chr1:100353566..100353570 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.958+1G>A single nucleotide variant Glycogen storage disease type III [RCV000664741] Chr1:99870870 [GRCh38]
Chr1:100336426 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn) deletion Glycogen storage disease type III [RCV000669415] Chr1:99875437..99875439 [GRCh38]
Chr1:100340993..100340995 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639_Ala640insAsp) microsatellite Glycogen storage disease type III [RCV000669492] Chr1:99881088..99881089 [GRCh38]
Chr1:100346644..100346645 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4481+2T>G single nucleotide variant Glycogen storage disease type III [RCV000670169] Chr1:99916733 [GRCh38]
Chr1:100382289 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3538del (p.Ser1180fs) deletion Glycogen storage disease type III [RCV000665332] Chr1:99900809 [GRCh38]
Chr1:100366365 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) microsatellite Glycogen storage disease type III [RCV000667291] Chr1:99862383..99862385 [GRCh38]
Chr1:100327939..100327941 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2949+2T>C single nucleotide variant Glycogen storage disease type III [RCV000667321] Chr1:99891358 [GRCh38]
Chr1:100356914 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2682-2A>G single nucleotide variant Glycogen storage disease type III [RCV000671061] Chr1:99887976 [GRCh38]
Chr1:100353532 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.4481+1G>C single nucleotide variant Glycogen storage disease type III [RCV000673984] Chr1:99916732 [GRCh38]
Chr1:100382288 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) single nucleotide variant Glycogen storage disease type III [RCV000671456]|not specified [RCV004702299] Chr1:99888019 [GRCh38]
Chr1:100353575 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.3941_3949+12del deletion Glycogen storage disease type III [RCV000671672] Chr1:99912508..99912528 [GRCh38]
Chr1:100378064..100378084 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3911del (p.Asn1304fs) deletion Glycogen storage disease type III [RCV000672409] Chr1:99912472 [GRCh38]
Chr1:100378028 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter) single nucleotide variant Glycogen storage disease type III [RCV000674441] Chr1:99916598 [GRCh38]
Chr1:100382154 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) duplication Glycogen storage disease type III [RCV000674508] Chr1:99896375..99896376 [GRCh38]
Chr1:100361931..100361932 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) single nucleotide variant Glycogen storage disease type III [RCV000671084] Chr1:99888024 [GRCh38]
Chr1:100353580 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.460+1G>A single nucleotide variant Glycogen storage disease type III [RCV000665550] Chr1:99862424 [GRCh38]
Chr1:100327980 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3083+5_3083+6del microsatellite Glycogen storage disease type III [RCV000667773] Chr1:99891741..99891742 [GRCh38]
Chr1:100357297..100357298 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer) deletion Glycogen storage disease type III [RCV000674575] Chr1:99915390..99915391 [GRCh38]
Chr1:100380946..100380947 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr) single nucleotide variant Glycogen storage disease type III [RCV000666181] Chr1:99880775 [GRCh38]
Chr1:100346331 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.854del (p.Arg285fs) deletion Glycogen storage disease type III [RCV000671568] Chr1:99870765 [GRCh38]
Chr1:100336321 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.82+1G>A single nucleotide variant Glycogen storage disease type III [RCV000671602] Chr1:99851125 [GRCh38]
Chr1:100316681 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2950-2A>C single nucleotide variant Glycogen storage disease type III [RCV000671872] Chr1:99891604 [GRCh38]
Chr1:100357160 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs) deletion Glycogen storage disease type III [RCV000673451] Chr1:99902767..99902789 [GRCh38]
Chr1:100368323..100368345 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1612-1G>C single nucleotide variant Glycogen storage disease type III [RCV000666059] Chr1:99879922 [GRCh38]
Chr1:100345478 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.121G>T (p.Gly41Ter) single nucleotide variant Glycogen storage disease type III [RCV000668290] Chr1:99861541 [GRCh38]
Chr1:100327097 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1877A>G (p.His626Arg) single nucleotide variant Glycogen storage disease type III [RCV000668516] Chr1:99880773 [GRCh38]
Chr1:100346329 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3259+3A>T single nucleotide variant Glycogen storage disease type III [RCV000668534] Chr1:99892610 [GRCh38]
Chr1:100358166 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) deletion Glycogen storage disease type III [RCV000666365] Chr1:99884360..99884363 [GRCh38]
Chr1:100349916..100349919 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del) microsatellite Glycogen storage disease type III [RCV000665803] Chr1:99861639..99861641 [GRCh38]
Chr1:100327195..100327197 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3836+1_3836+2dup duplication Glycogen storage disease type III [RCV000665827] Chr1:99910847..99910848 [GRCh38]
Chr1:100376403..100376404 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.82+1547T>C single nucleotide variant Glycogen storage disease type III [RCV000672601] Chr1:99852671 [GRCh38]
Chr1:100318227 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.710A>G (p.Asn237Ser) single nucleotide variant not provided [RCV000675320] Chr1:99870445 [GRCh38]
Chr1:100336001 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs) deletion Glycogen storage disease type III [RCV000673942] Chr1:99881409..99881410 [GRCh38]
Chr1:100346965..100346966 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.22del (p.Arg8fs) deletion Glycogen storage disease type III [RCV000674111] Chr1:99851064 [GRCh38]
Chr1:100316620 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2949+2dup duplication Glycogen storage disease type III [RCV000666638] Chr1:99891357..99891358 [GRCh38]
Chr1:100356913..100356914 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) single nucleotide variant Glycogen storage disease type III [RCV000685489]|Inborn genetic diseases [RCV002532203] Chr1:99861668 [GRCh38]
Chr1:100327224 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3347G>T (p.Arg1116Leu) single nucleotide variant Glycogen storage disease type III [RCV000686032] Chr1:99896373 [GRCh38]
Chr1:100361929 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del) microsatellite Glycogen storage disease type III [RCV000673488] Chr1:99880038..99880040 [GRCh38]
Chr1:100345594..100345596 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter) single nucleotide variant Glycogen storage disease type III [RCV000666456] Chr1:99892583 [GRCh38]
Chr1:100358139 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.4323del (p.Gly1442fs) deletion Glycogen storage disease type III [RCV000665072] Chr1:99916471 [GRCh38]
Chr1:100382027 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.83-24del deletion Glycogen storage disease type III [RCV000667606] Chr1:99861477 [GRCh38]
Chr1:100327033 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2089G>A (p.Gly697Ser) single nucleotide variant Glycogen storage disease type III [RCV000684872] Chr1:99881379 [GRCh38]
Chr1:100346935 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.949C>T (p.Leu317Phe) single nucleotide variant Glycogen storage disease type III [RCV000700196] Chr1:99870860 [GRCh38]
Chr1:100336416 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2671C>T (p.Pro891Ser) single nucleotide variant Glycogen storage disease type III [RCV000686439] Chr1:99884693 [GRCh38]
Chr1:100350249 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.224A>G (p.Asp75Gly) single nucleotide variant Glycogen storage disease type III [RCV000690252] Chr1:99861644 [GRCh38]
Chr1:100327200 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.239A>G (p.Tyr80Cys) single nucleotide variant Glycogen storage disease type III [RCV000701804] Chr1:99861659 [GRCh38]
Chr1:100327215 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.837C>A (p.His279Gln) single nucleotide variant Glycogen storage disease type III [RCV000704543] Chr1:99870572 [GRCh38]
Chr1:100336128 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3166C>G (p.Leu1056Val) single nucleotide variant Glycogen storage disease type III [RCV000704992] Chr1:99892514 [GRCh38]
Chr1:100358070 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.766C>T (p.Arg256Cys) single nucleotide variant Glycogen storage disease type III [RCV000704999] Chr1:99870501 [GRCh38]
Chr1:100336057 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.292G>A (p.Gly98Arg) single nucleotide variant Glycogen storage disease type III [RCV000693731] Chr1:99861712 [GRCh38]
Chr1:100327268 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3938T>G (p.Val1313Gly) single nucleotide variant Glycogen storage disease type III [RCV000693733] Chr1:99912506 [GRCh38]
Chr1:100378062 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.365T>C (p.Leu122Pro) single nucleotide variant Glycogen storage disease type III [RCV000693899] Chr1:99862328 [GRCh38]
Chr1:100327884 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.754A>G (p.Arg252Gly) single nucleotide variant Glycogen storage disease type III [RCV000699798] Chr1:99870489 [GRCh38]
Chr1:100336045 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu) single nucleotide variant Glycogen storage disease type III [RCV000703426] Chr1:99896309 [GRCh38]
Chr1:100361865 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3836+3A>G single nucleotide variant Glycogen storage disease type III [RCV000706043]|not specified [RCV003230579] Chr1:99910850 [GRCh38]
Chr1:100376406 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3670C>T (p.Pro1224Ser) single nucleotide variant Glycogen storage disease type III [RCV000692063] Chr1:99902764 [GRCh38]
Chr1:100368320 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1064C>T (p.Thr355Met) single nucleotide variant Glycogen storage disease type III [RCV000689398] Chr1:99874792 [GRCh38]
Chr1:100340348 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2308+4A>G single nucleotide variant Glycogen storage disease type III [RCV000692226] Chr1:99881695 [GRCh38]
Chr1:100347251 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4231C>T (p.Pro1411Ser) single nucleotide variant Glycogen storage disease type III [RCV000692325] Chr1:99915458 [GRCh38]
Chr1:100381014 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr) single nucleotide variant Glycogen storage disease type III [RCV000701029]|not provided [RCV003156286] Chr1:99916712 [GRCh38]
Chr1:100382268 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.136G>A (p.Val46Met) single nucleotide variant Glycogen storage disease type III [RCV000692495] Chr1:99861556 [GRCh38]
Chr1:100327112 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.10:g.(?_100316579)_(100387227_?)dup duplication Glycogen storage disease type III [RCV000708497] Chr1:99851023..99921671 [GRCh38]
Chr1:100316579..100387227 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3278C>A (p.Ser1093Tyr) single nucleotide variant Glycogen storage disease type III [RCV000694525] Chr1:99896304 [GRCh38]
Chr1:100361860 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) single nucleotide variant Glycogen storage disease type III [RCV000687353] Chr1:99875433 [GRCh38]
Chr1:100340989 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.1939G>A (p.Val647Ile) single nucleotide variant Glycogen storage disease type III [RCV000694796] Chr1:99881115 [GRCh38]
Chr1:100346671 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) single nucleotide variant Glycogen storage disease type III [RCV000706770] Chr1:99916700 [GRCh38]
Chr1:100382256 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.2209C>T (p.Pro737Ser) single nucleotide variant Glycogen storage disease type III [RCV000689941] Chr1:99881592 [GRCh38]
Chr1:100347148 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu) single nucleotide variant Glycogen storage disease type III [RCV000692939]|not provided [RCV003233819] Chr1:99915422 [GRCh38]
Chr1:100380978 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2091C>T (p.Gly697=) single nucleotide variant Glycogen storage disease type III [RCV000704531] Chr1:99881381 [GRCh38]
Chr1:100346937 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.841A>G (p.Met281Val) single nucleotide variant Glycogen storage disease type III [RCV000693212]|Inborn genetic diseases [RCV003343998] Chr1:99870576 [GRCh38]
Chr1:100336132 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn) single nucleotide variant Glycogen storage disease type III [RCV000688180] Chr1:99879990 [GRCh38]
Chr1:100345546 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4363A>T (p.Ile1455Phe) single nucleotide variant Glycogen storage disease type III [RCV000693402] Chr1:99916613 [GRCh38]
Chr1:100382169 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2950G>A (p.Val984Ile) single nucleotide variant Glycogen storage disease type III [RCV000704877] Chr1:99891606 [GRCh38]
Chr1:100357162 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4405A>G (p.Met1469Val) single nucleotide variant Glycogen storage disease type III [RCV000704977] Chr1:99916655 [GRCh38]
Chr1:100382211 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2903A>G (p.Asp968Gly) single nucleotide variant Glycogen storage disease type III [RCV000695881] Chr1:99891310 [GRCh38]
Chr1:100356866 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1423+3A>G single nucleotide variant Glycogen storage disease type III [RCV000688754]|Inborn genetic diseases [RCV002544826]|not provided [RCV000733342]|not specified [RCV003987666] Chr1:99876600 [GRCh38]
Chr1:100342156 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs) duplication Glycogen storage disease type III [RCV000684850] Chr1:99916633..99916634 [GRCh38]
Chr1:100382189..100382190 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.251dup (p.Asn84fs) duplication Glycogen storage disease type III [RCV000696480] Chr1:99861669..99861670 [GRCh38]
Chr1:100327225..100327226 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln) single nucleotide variant Glycogen storage disease type III [RCV000696640]|not provided [RCV001564523] Chr1:99902747 [GRCh38]
Chr1:100368303 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.681G>C (p.Trp227Cys) single nucleotide variant Glycogen storage disease type III [RCV000696665] Chr1:99870416 [GRCh38]
Chr1:100335972 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1874C>T (p.Thr625Met) single nucleotide variant Glycogen storage disease type III [RCV000694320] Chr1:99880770 [GRCh38]
Chr1:100346326 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) single nucleotide variant Glycogen storage disease type III [RCV000703517]|Inborn genetic diseases [RCV003165893] Chr1:99877754 [GRCh38]
Chr1:100343310 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.3746A>T (p.Tyr1249Phe) single nucleotide variant Glycogen storage disease type III [RCV000703558] Chr1:99910757 [GRCh38]
Chr1:100376313 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1612-8T>A single nucleotide variant Glycogen storage disease type III [RCV000706215] Chr1:99879915 [GRCh38]
Chr1:100345471 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu) single nucleotide variant Glycogen storage disease type III [RCV000703695] Chr1:99876595 [GRCh38]
Chr1:100342151 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.101G>A (p.Arg34Gln) single nucleotide variant Glycogen storage disease type III [RCV000692239] Chr1:99861521 [GRCh38]
Chr1:100327077 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.113C>G (p.Thr38Ser) single nucleotide variant Glycogen storage disease type III [RCV000723338] Chr1:99861533 [GRCh38]
Chr1:100327089 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2813-177T>C single nucleotide variant not provided [RCV001574610] Chr1:99891043 [GRCh38]
Chr1:100356599 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs) deletion Glycogen storage disease type III [RCV003136099]|not provided [RCV001531003] Chr1:99910783..99910787 [GRCh38]
Chr1:100376339..100376343 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3287dup (p.Arg1097fs) duplication Glycogen storage disease type III [RCV003466128] Chr1:99896309..99896310 [GRCh38]
Chr1:100361865..100361866 [GRCh37]
Chr1:1p21.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3		 pathogenic
NM_000642.3(AGL):c.618G>A (p.Lys206=) single nucleotide variant Glycogen storage disease type III [RCV000871227] Chr1:99864543 [GRCh38]
Chr1:100330099 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1083-162A>G single nucleotide variant not provided [RCV001681981] Chr1:99874992 [GRCh38]
Chr1:100340548 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2433+1G>A single nucleotide variant Glycogen storage disease type III [RCV001532921] Chr1:99884245 [GRCh38]
Chr1:100349801 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2813-289C>G single nucleotide variant not provided [RCV001583361] Chr1:99890931 [GRCh38]
Chr1:100356487 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3260-264A>G single nucleotide variant not provided [RCV001571848] Chr1:99896022 [GRCh38]
Chr1:100361578 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.82+1247_82+1248del deletion not provided [RCV001668778] Chr1:99852352..99852353 [GRCh38]
Chr1:100317908..100317909 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.4162-123T>A single nucleotide variant not provided [RCV001567085] Chr1:99915266 [GRCh38]
Chr1:100380822 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.659A>G (p.His220Arg) single nucleotide variant not provided [RCV000761671] Chr1:99864584 [GRCh38]
Chr1:100330140 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2702T>G (p.Leu901Trp) single nucleotide variant not provided [RCV000761674] Chr1:99887998 [GRCh38]
Chr1:100353554 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly) single nucleotide variant Glycogen storage disease type III [RCV002493388]|not provided [RCV000761672] Chr1:99874752 [GRCh38]
Chr1:100340308 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1423+124G>T single nucleotide variant not provided [RCV001584728] Chr1:99876721 [GRCh38]
Chr1:100342277 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1083-120G>C single nucleotide variant not provided [RCV001580902] Chr1:99875034 [GRCh38]
Chr1:100340590 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile) single nucleotide variant Glycogen storage disease type III [RCV001044963]|Inborn genetic diseases [RCV002552571] Chr1:99875452 [GRCh38]
Chr1:100341008 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.818C>G (p.Ala273Gly) single nucleotide variant Glycogen storage disease type III [RCV001045188]|Inborn genetic diseases [RCV002552577] Chr1:99870553 [GRCh38]
Chr1:100336109 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3083+52A>G single nucleotide variant not provided [RCV001585332] Chr1:99891791 [GRCh38]
Chr1:100357347 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.573G>C (p.Lys191Asn) single nucleotide variant Glycogen storage disease type III [RCV001102148]|not provided [RCV001092050] Chr1:99864498 [GRCh38]
Chr1:100330054 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter) single nucleotide variant Glycogen storage disease type III [RCV000986385] Chr1:99900765 [GRCh38]
Chr1:100366321 [GRCh37]
Chr1:1p21.2		 pathogenic
NC_000001.11:g.(?_99921514)_(99921671_?)del deletion Glycogen storage disease type III [RCV001032129] Chr1:100387070..100387227 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.4260-4G>T single nucleotide variant Glycogen storage disease type III [RCV000983619] Chr1:99916406 [GRCh38]
Chr1:100381962 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2991G>A (p.Gln997=) single nucleotide variant Glycogen storage disease type III [RCV001445799] Chr1:99891647 [GRCh38]
Chr1:100357203 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.344T>C (p.Val115Ala) single nucleotide variant Glycogen storage disease type III [RCV000914495] Chr1:99862307 [GRCh38]
Chr1:100327863 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.1842A>G (p.Pro614=) single nucleotide variant Glycogen storage disease type III [RCV000971169] Chr1:99880738 [GRCh38]
Chr1:100346294 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) single nucleotide variant Glycogen storage disease type III [RCV000877321] Chr1:99862406 [GRCh38]
Chr1:100327962 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.93A>G (p.Leu31=) single nucleotide variant Glycogen storage disease type III [RCV000877648] Chr1:99861513 [GRCh38]
Chr1:100327069 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2497C>A (p.Gln833Lys) single nucleotide variant Glycogen storage disease type III [RCV000923493]|Inborn genetic diseases [RCV004619454] Chr1:99884402 [GRCh38]
Chr1:100349958 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.665-9T>C single nucleotide variant Glycogen storage disease type III [RCV000915494] Chr1:99870391 [GRCh38]
Chr1:100335947 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1950A>C (p.Ala650=) single nucleotide variant Glycogen storage disease type III [RCV000897405] Chr1:99881126 [GRCh38]
Chr1:100346682 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4572T>G (p.Thr1524=) single nucleotide variant Glycogen storage disease type III [RCV000927736] Chr1:99921624 [GRCh38]
Chr1:100387180 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) single nucleotide variant AGL-related disorder [RCV003960825]|Glycogen storage disease type III [RCV000970630] Chr1:99910749 [GRCh38]
Chr1:100376305 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4146C>T (p.Thr1382=) single nucleotide variant Glycogen storage disease type III [RCV000976902] Chr1:99913723 [GRCh38]
Chr1:100379279 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.615A>G (p.Lys205=) single nucleotide variant Glycogen storage disease type III [RCV000981439] Chr1:99864540 [GRCh38]
Chr1:100330096 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2823T>C (p.Ser941=) single nucleotide variant Glycogen storage disease type III [RCV000983577] Chr1:99891230 [GRCh38]
Chr1:100356786 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2574C>T (p.Val858=) single nucleotide variant AGL-related disorder [RCV003895742]|Glycogen storage disease type III [RCV000945810] Chr1:99884596 [GRCh38]
Chr1:100350152 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2100A>G (p.Ala700=) single nucleotide variant Glycogen storage disease type III [RCV001453392] Chr1:99881390 [GRCh38]
Chr1:100346946 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) single nucleotide variant Glycogen storage disease type III [RCV001069267]|not provided [RCV003480948] Chr1:99864520 [GRCh38]
Chr1:100330076 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.958+1G>T single nucleotide variant Glycogen storage disease type III [RCV001047874] Chr1:99870870 [GRCh38]
Chr1:100336426 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3010C>G (p.Pro1004Ala) single nucleotide variant Glycogen storage disease type III [RCV001071322] Chr1:99891666 [GRCh38]
Chr1:100357222 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4336C>T (p.His1446Tyr) single nucleotide variant Glycogen storage disease type III [RCV001071604] Chr1:99916486 [GRCh38]
Chr1:100382042 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1715G>T (p.Gly572Val) single nucleotide variant Glycogen storage disease type III [RCV001035827] Chr1:99880026 [GRCh38]
Chr1:100345582 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2413G>A (p.Glu805Lys) single nucleotide variant Glycogen storage disease type III [RCV001036802]|Inborn genetic diseases [RCV004031003] Chr1:99884224 [GRCh38]
Chr1:100349780 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.158del (p.Pro53fs) deletion Glycogen storage disease type III [RCV001060056] Chr1:99861577 [GRCh38]
Chr1:100327133 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1457G>A (p.Cys486Tyr) single nucleotide variant Glycogen storage disease type III [RCV001072077] Chr1:99877674 [GRCh38]
Chr1:100343230 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.442A>G (p.Arg148Gly) single nucleotide variant Glycogen storage disease type III [RCV001060371]|not provided [RCV004691328] Chr1:99862405 [GRCh38]
Chr1:100327961 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser) single nucleotide variant Glycogen storage disease type III [RCV001060531] Chr1:99892532 [GRCh38]
Chr1:100358088 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro) duplication Glycogen storage disease type III [RCV001051689] Chr1:99874801..99874802 [GRCh38]
Chr1:100340357..100340358 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4271A>T (p.Tyr1424Phe) single nucleotide variant Glycogen storage disease type III [RCV001052815] Chr1:99916421 [GRCh38]
Chr1:100381977 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.847-3C>A single nucleotide variant Glycogen storage disease IIIa [RCV000790365] Chr1:99870755 [GRCh38]
Chr1:100336311 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3837-1G>A single nucleotide variant Glycogen storage disease IIIa [RCV000790367] Chr1:99912404 [GRCh38]
Chr1:100377960 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.-69+1G>C single nucleotide variant Glycogen storage disease type III [RCV000778175] Chr1:99850416 [GRCh38]
Chr1:100315972 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) single nucleotide variant Glycogen storage disease type III [RCV000778176] Chr1:99881313 [GRCh38]
Chr1:100346869 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.4256del (p.Pro1419fs) deletion Glycogen storage disease type III [RCV000778177] Chr1:99915482 [GRCh38]
Chr1:100381038 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4389A>G (p.Leu1463=) single nucleotide variant Glycogen storage disease type III [RCV000882094] Chr1:99916639 [GRCh38]
Chr1:100382195 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1082+8A>T single nucleotide variant Glycogen storage disease type III [RCV002066474] Chr1:99874818 [GRCh38]
Chr1:100340374 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2364T>C (p.Pro788=) single nucleotide variant Glycogen storage disease type III [RCV001499345] Chr1:99884175 [GRCh38]
Chr1:100349731 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1185+8T>A single nucleotide variant Glycogen storage disease type III [RCV000877318] Chr1:99875264 [GRCh38]
Chr1:100340820 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4455T>G (p.Leu1485=) single nucleotide variant Glycogen storage disease type III [RCV001395841] Chr1:99916705 [GRCh38]
Chr1:100382261 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4053G>A (p.Lys1351=) single nucleotide variant Glycogen storage disease type III [RCV000944905] Chr1:99913630 [GRCh38]
Chr1:100379186 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.246A>G (p.Lys82=) single nucleotide variant Glycogen storage disease type III [RCV001472469] Chr1:99861666 [GRCh38]
Chr1:100327222 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.69C>T (p.Phe23=) single nucleotide variant Glycogen storage disease type III [RCV001496290] Chr1:99851111 [GRCh38]
Chr1:100316667 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4182A>G (p.Thr1394=) single nucleotide variant Glycogen storage disease type III [RCV001414040] Chr1:99915409 [GRCh38]
Chr1:100380965 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.487T>C (p.Leu163=) single nucleotide variant Glycogen storage disease type III [RCV000879440] Chr1:99864412 [GRCh38]
Chr1:100329968 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1185+8T>C single nucleotide variant Glycogen storage disease type III [RCV000951650] Chr1:99875264 [GRCh38]
Chr1:100340820 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1283+8A>C single nucleotide variant Glycogen storage disease type III [RCV000978757] Chr1:99875463 [GRCh38]
Chr1:100341019 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2219A>G (p.His740Arg) single nucleotide variant Glycogen storage disease type III [RCV000902396]|not provided [RCV001759666] Chr1:99881602 [GRCh38]
Chr1:100347158 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.918C>T (p.Val306=) single nucleotide variant Glycogen storage disease type III [RCV001477803] Chr1:99870829 [GRCh38]
Chr1:100336385 [GRCh37]
Chr1:1p21.2		 likely benign
GRCh37/hg19 1p21.2(chr1:100225316-100479805)x1 copy number loss not provided [RCV001005122] Chr1:100225316..100479805 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) single nucleotide variant Glycogen storage disease IIIa [RCV001420705]|Glycogen storage disease type III [RCV000780820]|not provided [RCV003480811] Chr1:99876579 [GRCh38]
Chr1:100342135 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.4221del (p.Lys1407fs) deletion Glycogen storage disease type III [RCV000780821] Chr1:99915441 [GRCh38]
Chr1:100380997 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) single nucleotide variant AGL-related disorder [RCV003392616]|Glycogen storage disease type III [RCV000809505]|Inborn genetic diseases [RCV002538054]|not provided [RCV003411789] Chr1:99916701 [GRCh38]
Chr1:100382257 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.864T>G (p.Ile288Met) single nucleotide variant Glycogen storage disease type III [RCV000797241] Chr1:99870775 [GRCh38]
Chr1:100336331 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3477G>C (p.Gln1159His) single nucleotide variant Glycogen storage disease type III [RCV000800865] Chr1:99900750 [GRCh38]
Chr1:100366306 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1565del (p.Gly522fs) deletion Glycogen storage disease type III [RCV000820548] Chr1:99877780 [GRCh38]
Chr1:100343336 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.664+150T>C single nucleotide variant not provided [RCV000837513] Chr1:99864739 [GRCh38]
Chr1:100330295 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2137G>A (p.Gly713Arg) single nucleotide variant Glycogen storage disease type III [RCV000802721] Chr1:99881427 [GRCh38]
Chr1:100346983 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) single nucleotide variant Glycogen storage disease type III [RCV000802824] Chr1:99880005 [GRCh38]
Chr1:100345561 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1582T>A (p.Cys528Ser) single nucleotide variant Glycogen storage disease type III [RCV000801164] Chr1:99877799 [GRCh38]
Chr1:100343355 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val) single nucleotide variant Glycogen storage disease type III [RCV000804762] Chr1:99900656 [GRCh38]
Chr1:100366212 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter) single nucleotide variant Glycogen storage disease type III [RCV000819446] Chr1:99888023 [GRCh38]
Chr1:100353579 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3362+236G>A single nucleotide variant not provided [RCV000839763] Chr1:99896624 [GRCh38]
Chr1:100362180 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3837-172C>T single nucleotide variant not provided [RCV000839764] Chr1:99912233 [GRCh38]
Chr1:100377789 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2812+96A>G single nucleotide variant not provided [RCV000836196] Chr1:99888204 [GRCh38]
Chr1:100353760 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter) single nucleotide variant Glycogen storage disease type III [RCV000803309] Chr1:99884195 [GRCh38]
Chr1:100349751 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1846A>G (p.Ile616Val) single nucleotide variant Glycogen storage disease type III [RCV000791656] Chr1:99880742 [GRCh38]
Chr1:100346298 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.460+293G>A single nucleotide variant not provided [RCV000842850] Chr1:99862716 [GRCh38]
Chr1:100328272 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2051C>T (p.Ala684Val) single nucleotide variant Glycogen storage disease type III [RCV000824297] Chr1:99881341 [GRCh38]
Chr1:100346897 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) single nucleotide variant Glycogen storage disease type III [RCV000811556]|not provided [RCV004719999] Chr1:99900717 [GRCh38]
Chr1:100366273 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2654A>G (p.Asp885Gly) single nucleotide variant Glycogen storage disease type III [RCV000801695] Chr1:99884676 [GRCh38]
Chr1:100350232 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) single nucleotide variant Glycogen storage disease type III [RCV000821722]|Inborn genetic diseases [RCV003258998] Chr1:99881605 [GRCh38]
Chr1:100347161 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.609del (p.Lys203fs) deletion Glycogen storage disease type III [RCV000800641] Chr1:99864530 [GRCh38]
Chr1:100330086 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2813-110C>T single nucleotide variant not provided [RCV000836543] Chr1:99891110 [GRCh38]
Chr1:100356666 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3701-65A>C single nucleotide variant not provided [RCV000836544] Chr1:99910647 [GRCh38]
Chr1:100376203 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) single nucleotide variant Glycogen storage disease type III [RCV000805441] Chr1:99880679 [GRCh38]
Chr1:100346235 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3972T>C (p.Tyr1324=) single nucleotide variant Glycogen storage disease type III [RCV000915935] Chr1:99913549 [GRCh38]
Chr1:100379105 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) single nucleotide variant Glycogen storage disease type III [RCV000986380] Chr1:99864501 [GRCh38]
Chr1:100330057 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) single nucleotide variant Glycogen storage disease type III [RCV000986382] Chr1:99880045 [GRCh38]
Chr1:100345601 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2040G>T (p.Trp680Cys) single nucleotide variant Glycogen storage disease type III [RCV001869378]|not provided [RCV000994053] Chr1:99881330 [GRCh38]
Chr1:100346886 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2310C>T (p.Gly770=) single nucleotide variant Glycogen storage disease type III [RCV000791583] Chr1:99884121 [GRCh38]
Chr1:100349677 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.3700+236G>A single nucleotide variant not provided [RCV000838725] Chr1:99903030 [GRCh38]
Chr1:100368586 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile) single nucleotide variant Glycogen storage disease type III [RCV000822057] Chr1:99916481 [GRCh38]
Chr1:100382037 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) single nucleotide variant Glycogen storage disease type III [RCV000792366] Chr1:99880040 [GRCh38]
Chr1:100345596 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.11:g.(?_99902663)_(99902814_?)del deletion Glycogen storage disease type III [RCV000809309] Chr1:99902663..99902814 [GRCh38]
Chr1:100368219..100368370 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter) single nucleotide variant Glycogen storage disease type III [RCV000817115] Chr1:99875251 [GRCh38]
Chr1:100340807 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.665-168A>G single nucleotide variant not provided [RCV000838926] Chr1:99870232 [GRCh38]
Chr1:100335788 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2571A>G (p.Gln857=) single nucleotide variant Glycogen storage disease type III [RCV001070058]|not provided [RCV000827109] Chr1:99884593 [GRCh38]
Chr1:100350149 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.664+92A>G single nucleotide variant not provided [RCV000835490] Chr1:99864681 [GRCh38]
Chr1:100330237 [GRCh37]
Chr1:1p21.2		 benign
NC_000001.11:g.99892644G>A single nucleotide variant not provided [RCV000835491] Chr1:100358200 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2944G>A (p.Ala982Thr) single nucleotide variant Glycogen storage disease type III [RCV000818797] Chr1:99891351 [GRCh38]
Chr1:100356907 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) single nucleotide variant Glycogen storage disease type III [RCV000815549] Chr1:99881085 [GRCh38]
Chr1:100346641 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2204A>C (p.His735Pro) single nucleotide variant Glycogen storage disease type III [RCV000799196] Chr1:99881587 [GRCh38]
Chr1:100347143 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) single nucleotide variant Glycogen storage disease type III [RCV000816120] Chr1:99915397 [GRCh38]
Chr1:100380953 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3400G>A (p.Gly1134Ser) single nucleotide variant Glycogen storage disease type III [RCV000819989] Chr1:99900673 [GRCh38]
Chr1:100366229 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2950-2A>G single nucleotide variant Glycogen storage disease IIIa [RCV000790366] Chr1:99891604 [GRCh38]
Chr1:100357160 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1083-2A>G single nucleotide variant Glycogen storage disease IIIa [RCV000790368] Chr1:99875152 [GRCh38]
Chr1:100340708 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2113A>G (p.Ile705Val) single nucleotide variant Glycogen storage disease IIIa [RCV000790394] Chr1:99881403 [GRCh38]
Chr1:100346959 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3551C>T (p.Pro1184Leu) single nucleotide variant Glycogen storage disease type III [RCV000800280] Chr1:99900824 [GRCh38]
Chr1:100366380 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.885G>C (p.Lys295Asn) single nucleotide variant Glycogen storage disease type III [RCV000816538] Chr1:99870796 [GRCh38]
Chr1:100336352 [GRCh37]
Chr1:1p21.2		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_000642.3(AGL):c.703G>A (p.Ala235Thr) single nucleotide variant Glycogen storage disease type III [RCV000806509] Chr1:99870438 [GRCh38]
Chr1:100335994 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter) single nucleotide variant Glycogen storage disease type III [RCV000813231] Chr1:99921577 [GRCh38]
Chr1:100387133 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2909T>C (p.Val970Ala) single nucleotide variant Glycogen storage disease type III [RCV000797179] Chr1:99891316 [GRCh38]
Chr1:100356872 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.566A>G (p.Asn189Ser) single nucleotide variant Glycogen storage disease type III [RCV000797660] Chr1:99864491 [GRCh38]
Chr1:100330047 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.366A>G (p.Leu122=) single nucleotide variant not provided [RCV000842456] Chr1:99862329 [GRCh38]
Chr1:100327885 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2308+216C>A single nucleotide variant not provided [RCV000839762] Chr1:99881907 [GRCh38]
Chr1:100347463 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) single nucleotide variant Glycogen storage disease type III [RCV000818392] Chr1:99892527 [GRCh38]
Chr1:100358083 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.461-279A>C single nucleotide variant not provided [RCV000842863] Chr1:99864107 [GRCh38]
Chr1:100329663 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.959-300T>C single nucleotide variant not provided [RCV000842864] Chr1:99874387 [GRCh38]
Chr1:100339943 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2309-295A>C single nucleotide variant not provided [RCV000842866] Chr1:99883825 [GRCh38]
Chr1:100349381 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3259+288G>A single nucleotide variant not provided [RCV000842867] Chr1:99892895 [GRCh38]
Chr1:100358451 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.1187C>T (p.Ala396Val) single nucleotide variant Glycogen storage disease type III [RCV000798326]|Inborn genetic diseases [RCV002537990] Chr1:99875359 [GRCh38]
Chr1:100340915 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3242G>A (p.Cys1081Tyr) single nucleotide variant Glycogen storage disease type III [RCV000809104] Chr1:99892590 [GRCh38]
Chr1:100358146 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2157+4A>T single nucleotide variant Glycogen storage disease type III [RCV000810588] Chr1:99881451 [GRCh38]
Chr1:100347007 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3912T>A (p.Asn1304Lys) single nucleotide variant Glycogen storage disease type III [RCV000802519]|Inborn genetic diseases [RCV004028113] Chr1:99912480 [GRCh38]
Chr1:100378036 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2314A>C (p.Ile772Leu) single nucleotide variant Glycogen storage disease type III [RCV000819318] Chr1:99884125 [GRCh38]
Chr1:100349681 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) single nucleotide variant Glycogen storage disease type III [RCV000819319] Chr1:99915452 [GRCh38]
Chr1:100381008 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2711_2717delinsCAAAGGATCTGAT (p.Leu904_Gln906delinsProLysAspLeuMet) indel Glycogen storage disease type III [RCV000811633]|not provided [RCV004588280] Chr1:99888007..99888013 [GRCh38]
Chr1:100353563..100353569 [GRCh37]
Chr1:1p21.2		 pathogenic|uncertain significance
NM_000642.3(AGL):c.2024G>A (p.Arg675Gln) single nucleotide variant Glycogen storage disease type III [RCV000795192] Chr1:99881314 [GRCh38]
Chr1:100346870 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3199C>G (p.Pro1067Ala) single nucleotide variant Glycogen storage disease type III [RCV001066543] Chr1:99892547 [GRCh38]
Chr1:100358103 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.413G>A (p.Gly138Glu) single nucleotide variant Glycogen storage disease type III [RCV001067895]|not specified [RCV002282451] Chr1:99862376 [GRCh38]
Chr1:100327932 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4382C>G (p.Ala1461Gly) single nucleotide variant Glycogen storage disease type III [RCV000811693] Chr1:99916632 [GRCh38]
Chr1:100382188 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1042G>A (p.Val348Ile) single nucleotide variant Glycogen storage disease type III [RCV001045954]|Inborn genetic diseases [RCV002553134]|not provided [RCV001509046] Chr1:99874770 [GRCh38]
Chr1:100340326 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg) single nucleotide variant Glycogen storage disease type III [RCV000807480]|Inborn genetic diseases [RCV002537250] Chr1:99876595 [GRCh38]
Chr1:100342151 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*595A>G single nucleotide variant Glycogen storage disease type III [RCV001096925] Chr1:99922246 [GRCh38]
Chr1:100387802 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) single nucleotide variant Glycogen storage disease type III [RCV000812701]|Inborn genetic diseases [RCV002537377]|not provided [RCV000994054] Chr1:99881691 [GRCh38]
Chr1:100347247 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1971T>C single nucleotide variant Glycogen storage disease type III [RCV001097025] Chr1:99923622 [GRCh38]
Chr1:100389178 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.-95A>G single nucleotide variant Glycogen storage disease type III [RCV001098373] Chr1:99850389 [GRCh38]
Chr1:100315945 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.-82A>G single nucleotide variant Glycogen storage disease type III [RCV001098374] Chr1:99850402 [GRCh38]
Chr1:100315958 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3840T>G (p.Asp1280Glu) single nucleotide variant Glycogen storage disease type III [RCV000792127] Chr1:99912408 [GRCh38]
Chr1:100377964 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.861_864del (p.Ile288fs) deletion Glycogen storage disease type III [RCV000794850] Chr1:99870771..99870774 [GRCh38]
Chr1:100336327..100336330 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3077T>C (p.Met1026Thr) single nucleotide variant Glycogen storage disease type III [RCV000795784] Chr1:99891733 [GRCh38]
Chr1:100357289 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2694A>T (p.Arg898Ser) single nucleotide variant Glycogen storage disease type III [RCV000798407] Chr1:99887990 [GRCh38]
Chr1:100353546 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1615A>G (p.Met539Val) single nucleotide variant Glycogen storage disease type III [RCV000817884] Chr1:99879926 [GRCh38]
Chr1:100345482 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3700+290A>G single nucleotide variant not provided [RCV000842869] Chr1:99903084 [GRCh38]
Chr1:100368640 [GRCh37]
Chr1:1p21.2		 benign
NC_000001.11:g.(?_99910692)_(99913758_?)del deletion Glycogen storage disease type III [RCV000819891] Chr1:99910692..99913758 [GRCh38]
Chr1:100376248..100379314 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3363-343G>A single nucleotide variant not provided [RCV000833131] Chr1:99900293 [GRCh38]
Chr1:100365849 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.385C>T (p.Leu129Phe) single nucleotide variant Glycogen storage disease type III [RCV000801671] Chr1:99862348 [GRCh38]
Chr1:100327904 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2484C>T (p.Pro828=) single nucleotide variant Glycogen storage disease type III [RCV001412722] Chr1:99884389 [GRCh38]
Chr1:100349945 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.461-4G>A single nucleotide variant Glycogen storage disease type III [RCV001438155] Chr1:99864382 [GRCh38]
Chr1:100329938 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.525del (p.Ala176fs) deletion Glycogen storage disease type III [RCV000794116] Chr1:99864449 [GRCh38]
Chr1:100330005 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.293+212C>A single nucleotide variant not provided [RCV000837679] Chr1:99861925 [GRCh38]
Chr1:100327481 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly) single nucleotide variant Glycogen storage disease type III [RCV000791709] Chr1:99913562 [GRCh38]
Chr1:100379118 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr) single nucleotide variant Glycogen storage disease IIIa [RCV000790395]|Glycogen storage disease type III [RCV001873203] Chr1:99902771 [GRCh38]
Chr1:100368327 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) single nucleotide variant Glycogen storage disease type III [RCV000794970] Chr1:99912462 [GRCh38]
Chr1:100378018 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.82+85C>T single nucleotide variant not provided [RCV000835487] Chr1:99851209 [GRCh38]
Chr1:100316765 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.461-53G>C single nucleotide variant not provided [RCV000835488] Chr1:99864333 [GRCh38]
Chr1:100329889 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3584C>T (p.Thr1195Ile) single nucleotide variant Glycogen storage disease type III [RCV000795295] Chr1:99900857 [GRCh38]
Chr1:100366413 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1864A>G (p.Met622Val) single nucleotide variant Glycogen storage disease type III [RCV000792974] Chr1:99880760 [GRCh38]
Chr1:100346316 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3883C>G (p.Arg1295Gly) single nucleotide variant Glycogen storage disease type III [RCV000795525] Chr1:99912451 [GRCh38]
Chr1:100378007 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2158-8C>G single nucleotide variant Glycogen storage disease type III [RCV000920636] Chr1:99881533 [GRCh38]
Chr1:100347089 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile) single nucleotide variant Glycogen storage disease type III [RCV000801296] Chr1:99900819 [GRCh38]
Chr1:100366375 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.25A>G (p.Ile9Val) single nucleotide variant Glycogen storage disease type III [RCV000821038] Chr1:99851067 [GRCh38]
Chr1:100316623 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*604A>G single nucleotide variant Glycogen storage disease type III [RCV001096926] Chr1:99922255 [GRCh38]
Chr1:100387811 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*682A>G single nucleotide variant Glycogen storage disease type III [RCV001096928] Chr1:99922333 [GRCh38]
Chr1:100387889 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.736C>G (p.Pro246Ala) single nucleotide variant Glycogen storage disease type III [RCV001065783] Chr1:99870471 [GRCh38]
Chr1:100336027 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.921del (p.Asn307fs) deletion Glycogen storage disease type III [RCV000991300] Chr1:99870832 [GRCh38]
Chr1:100336388 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys) single nucleotide variant Glycogen storage disease type III [RCV001066022] Chr1:99884158 [GRCh38]
Chr1:100349714 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2314A>G (p.Ile772Val) single nucleotide variant not provided [RCV001092052] Chr1:99884125 [GRCh38]
Chr1:100349681 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3920C>G (p.Pro1307Arg) single nucleotide variant Glycogen storage disease type III [RCV001066688] Chr1:99912488 [GRCh38]
Chr1:100378044 [GRCh37]
Chr1:1p21.2		 uncertain significance
GRCh37/hg19 1p21.2(chr1:100209547-100433622)x1 copy number loss not provided [RCV000848674] Chr1:100209547..100433622 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3481_3589-407del deletion Glycogen storage disease type III [RCV000991292] Chr1:99900754..99902276 [GRCh38]
Chr1:100366310..100367832 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1086G>T (p.Lys362Asn) single nucleotide variant Glycogen storage disease type III [RCV001907750] Chr1:99875157 [GRCh38]
Chr1:100340713 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1423+1G>C single nucleotide variant Glycogen storage disease type III [RCV001043998] Chr1:99876598 [GRCh38]
Chr1:100342154 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln) single nucleotide variant Glycogen storage disease type III [RCV001067004] Chr1:99891325 [GRCh38]
Chr1:100356881 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.71G>C (p.Arg24Thr) single nucleotide variant Glycogen storage disease type III [RCV001067011] Chr1:99851113 [GRCh38]
Chr1:100316669 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs) indel Glycogen storage disease type III [RCV001246332] Chr1:99879999 [GRCh38]
Chr1:100345555 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter) single nucleotide variant Glycogen storage disease type III [RCV000986384] Chr1:99881373 [GRCh38]
Chr1:100346929 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile) single nucleotide variant Glycogen storage disease type III [RCV000986386] Chr1:99902730 [GRCh38]
Chr1:100368286 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter) single nucleotide variant Glycogen storage disease type III [RCV000986387] Chr1:99902731 [GRCh38]
Chr1:100368287 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3548A>G (p.Tyr1183Cys) single nucleotide variant Glycogen storage disease type III [RCV001045685] Chr1:99900821 [GRCh38]
Chr1:100366377 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.664+2T>C single nucleotide variant Glycogen storage disease type III [RCV001202978] Chr1:99864591 [GRCh38]
Chr1:100330147 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.4583C>T (p.Thr1528Ile) single nucleotide variant Glycogen storage disease type III [RCV001203050] Chr1:99921635 [GRCh38]
Chr1:100387191 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4422del (p.Ala1475fs) deletion Glycogen storage disease type III [RCV001193899] Chr1:99916672 [GRCh38]
Chr1:100382228 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.306TGG[1] (p.Gly105del) microsatellite Glycogen storage disease type III [RCV001247340]|not provided [RCV004691398] Chr1:99862268..99862270 [GRCh38]
Chr1:100327824..100327826 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.567dup (p.Arg190Ter) duplication Glycogen storage disease type III [RCV001250147] Chr1:99864491..99864492 [GRCh38]
Chr1:100330047..100330048 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln) single nucleotide variant Glycogen storage disease type III [RCV001243002] Chr1:99875413 [GRCh38]
Chr1:100340969 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2897T>C (p.Met966Thr) single nucleotide variant Glycogen storage disease type III [RCV001239200] Chr1:99891304 [GRCh38]
Chr1:100356860 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2303T>A (p.Ile768Asn) single nucleotide variant Glycogen storage disease type III [RCV001223779] Chr1:99881686 [GRCh38]
Chr1:100347242 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4225C>T (p.Leu1409Phe) single nucleotide variant Glycogen storage disease type III [RCV001243363] Chr1:99915452 [GRCh38]
Chr1:100381008 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2215A>G (p.Ile739Val) single nucleotide variant Glycogen storage disease type III [RCV001214101] Chr1:99881598 [GRCh38]
Chr1:100347154 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2053T>G (p.Leu685Val) single nucleotide variant Glycogen storage disease type III [RCV001203094] Chr1:99881343 [GRCh38]
Chr1:100346899 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2372A>G (p.Lys791Arg) single nucleotide variant Glycogen storage disease type III [RCV001239115] Chr1:99884183 [GRCh38]
Chr1:100349739 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu) single nucleotide variant Glycogen storage disease type III [RCV001240933] Chr1:99891337 [GRCh38]
Chr1:100356893 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1692del (p.Asp564fs) deletion Glycogen storage disease type III [RCV001224633] Chr1:99880003 [GRCh38]
Chr1:100345559 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2823dup (p.Val942fs) duplication Glycogen storage disease type III [RCV001242864] Chr1:99891229..99891230 [GRCh38]
Chr1:100356785..100356786 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1883A>G (p.Asn628Ser) single nucleotide variant Glycogen storage disease type III [RCV001233757] Chr1:99880779 [GRCh38]
Chr1:100346335 [GRCh37]
Chr1:1p21.2		 uncertain significance
GRCh37/hg19 1p21.2(chr1:100152182-100456266)x3 copy number gain not provided [RCV000845638] Chr1:100152182..100456266 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1570C>T (p.Arg524Cys) single nucleotide variant Glycogen storage disease type III [RCV001239745] Chr1:99877787 [GRCh38]
Chr1:100343343 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3990A>C (p.Lys1330Asn) single nucleotide variant Glycogen storage disease type III [RCV001209451] Chr1:99913567 [GRCh38]
Chr1:100379123 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4564A>G (p.Ile1522Val) single nucleotide variant Glycogen storage disease type III [RCV001241269] Chr1:99921616 [GRCh38]
Chr1:100387172 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3441del (p.Arg1147fs) deletion Glycogen storage disease type III [RCV001209690] Chr1:99900714 [GRCh38]
Chr1:100366270 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3014del (p.Cys1005fs) deletion Glycogen storage disease type III [RCV001209778]|not provided [RCV004720091] Chr1:99891670 [GRCh38]
Chr1:100357226 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3927T>A (p.His1309Gln) single nucleotide variant Glycogen storage disease type III [RCV001243191]|not provided [RCV001507967] Chr1:99912495 [GRCh38]
Chr1:100378051 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1717dup (p.Ile573fs) duplication Glycogen storage disease type III [RCV001238167] Chr1:99880027..99880028 [GRCh38]
Chr1:100345583..100345584 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.4261G>A (p.Asp1421Asn) single nucleotide variant Glycogen storage disease type III [RCV001225346] Chr1:99916411 [GRCh38]
Chr1:100381967 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3700+6G>A single nucleotide variant Glycogen storage disease type III [RCV001231946] Chr1:99902800 [GRCh38]
Chr1:100368356 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2884T>A (p.Ser962Thr) single nucleotide variant Glycogen storage disease type III [RCV001238024] Chr1:99891291 [GRCh38]
Chr1:100356847 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3316G>A (p.Ala1106Thr) single nucleotide variant Glycogen storage disease type III [RCV001221800] Chr1:99896342 [GRCh38]
Chr1:100361898 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1611+6G>A single nucleotide variant Glycogen storage disease type III [RCV001240606] Chr1:99877834 [GRCh38]
Chr1:100343390 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3283A>G (p.Ile1095Val) single nucleotide variant Glycogen storage disease type III [RCV001223994] Chr1:99896309 [GRCh38]
Chr1:100361865 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1010A>C (p.Gln337Pro) single nucleotide variant Glycogen storage disease type III [RCV001225423] Chr1:99874738 [GRCh38]
Chr1:100340294 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2279G>A (p.Ser760Asn) single nucleotide variant Glycogen storage disease type III [RCV001203895] Chr1:99881662 [GRCh38]
Chr1:100347218 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3049A>G (p.Thr1017Ala) single nucleotide variant Glycogen storage disease type III [RCV001218481] Chr1:99891705 [GRCh38]
Chr1:100357261 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.372G>A (p.Leu124=) single nucleotide variant Glycogen storage disease type III [RCV001210436] Chr1:99862335 [GRCh38]
Chr1:100327891 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1899+9C>G single nucleotide variant Glycogen storage disease type III [RCV001240676] Chr1:99880804 [GRCh38]
Chr1:100346360 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.214_215del (p.Glu72fs) deletion Glycogen storage disease type III [RCV001210264] Chr1:99861633..99861634 [GRCh38]
Chr1:100327189..100327190 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser) single nucleotide variant Glycogen storage disease type III [RCV001221758]|Inborn genetic diseases [RCV002562533] Chr1:99881151 [GRCh38]
Chr1:100346707 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.719A>G (p.Asn240Ser) single nucleotide variant Glycogen storage disease type III [RCV001210212] Chr1:99870454 [GRCh38]
Chr1:100336010 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3626A>G (p.Gln1209Arg) single nucleotide variant Glycogen storage disease type III [RCV001242151] Chr1:99902720 [GRCh38]
Chr1:100368276 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) single nucleotide variant Glycogen storage disease type III [RCV001242186] Chr1:99888095 [GRCh38]
Chr1:100353651 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2761G>A (p.Gly921Arg) single nucleotide variant Glycogen storage disease type III [RCV001242779] Chr1:99888057 [GRCh38]
Chr1:100353613 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1054A>G (p.Ile352Val) single nucleotide variant Glycogen storage disease type III [RCV001240814] Chr1:99874782 [GRCh38]
Chr1:100340338 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.71G>T (p.Arg24Ile) single nucleotide variant Glycogen storage disease type III [RCV001240973] Chr1:99851113 [GRCh38]
Chr1:100316669 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter) single nucleotide variant Glycogen storage disease type III [RCV001226098] Chr1:99915420 [GRCh38]
Chr1:100380976 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys) single nucleotide variant Glycogen storage disease type III [RCV001210381]|Inborn genetic diseases [RCV002562361] Chr1:99881358 [GRCh38]
Chr1:100346914 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter) single nucleotide variant Glycogen storage disease type III [RCV001211318] Chr1:99891616 [GRCh38]
Chr1:100357172 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.188G>A (p.Arg63His) single nucleotide variant Glycogen storage disease type III [RCV001242350]|Inborn genetic diseases [RCV002564026] Chr1:99861608 [GRCh38]
Chr1:100327164 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1735+1_1735+15del deletion Glycogen storage disease type III [RCV001210452] Chr1:99880044..99880058 [GRCh38]
Chr1:100345600..100345614 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) single nucleotide variant Glycogen storage disease type III [RCV001246997] Chr1:99870798 [GRCh38]
Chr1:100336354 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.3116A>T (p.His1039Leu) single nucleotide variant Glycogen storage disease type III [RCV001248543]|Inborn genetic diseases [RCV002568687] Chr1:99892464 [GRCh38]
Chr1:100358020 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1650A>G (p.Leu550=) single nucleotide variant Glycogen storage disease type III [RCV001208064] Chr1:99879961 [GRCh38]
Chr1:100345517 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
GRCh37/hg19 1p21.2(chr1:100302513-100319101)x1 copy number loss not provided [RCV000845782] Chr1:100302513..100319101 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.311G>T (p.Gly104Val) single nucleotide variant Glycogen storage disease type III [RCV001247982] Chr1:99862274 [GRCh38]
Chr1:100327830 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1103A>G single nucleotide variant Glycogen storage disease type III [RCV001100478] Chr1:99922754 [GRCh38]
Chr1:100388310 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs) duplication Glycogen storage disease type III [RCV001212602] Chr1:99916417..99916418 [GRCh38]
Chr1:100381973..100381974 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.958+12A>G single nucleotide variant Glycogen storage disease type III [RCV001096731] Chr1:99870881 [GRCh38]
Chr1:100336437 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.2399dup (p.Asp801fs) duplication Glycogen storage disease type III [RCV001250149] Chr1:99884208..99884209 [GRCh38]
Chr1:100349764..100349765 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.*2058G>A single nucleotide variant Glycogen storage disease type III [RCV001097026]|not provided [RCV002264183] Chr1:99923709 [GRCh38]
Chr1:100389265 [GRCh37]
Chr1:1p21.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.235A>G (p.Lys79Glu) single nucleotide variant Glycogen storage disease type III [RCV001228879] Chr1:99861655 [GRCh38]
Chr1:100327211 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4450G>T (p.Val1484Phe) single nucleotide variant Glycogen storage disease type III [RCV001229226] Chr1:99916700 [GRCh38]
Chr1:100382256 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*83C>G single nucleotide variant Glycogen storage disease type III [RCV001102327] Chr1:99921734 [GRCh38]
Chr1:100387290 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*257C>A single nucleotide variant Glycogen storage disease type III [RCV001102329] Chr1:99921908 [GRCh38]
Chr1:100387464 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2505A>G (p.Ile835Met) single nucleotide variant Glycogen storage disease type III [RCV001212418] Chr1:99884410 [GRCh38]
Chr1:100349966 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2446A>G (p.Lys816Glu) single nucleotide variant Glycogen storage disease type III [RCV001212821] Chr1:99884351 [GRCh38]
Chr1:100349907 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3913A>G (p.Ile1305Val) single nucleotide variant Glycogen storage disease type III [RCV001247008] Chr1:99912481 [GRCh38]
Chr1:100378037 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) deletion Glycogen storage disease type III [RCV001210768] Chr1:99881312..99881321 [GRCh38]
Chr1:100346868..100346877 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3258A>T (p.Ala1086=) single nucleotide variant Glycogen storage disease type III [RCV001247471] Chr1:99892606 [GRCh38]
Chr1:100358162 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1994C>T (p.Pro665Leu) single nucleotide variant Glycogen storage disease type III [RCV003105063] Chr1:99881170 [GRCh38]
Chr1:100346726 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.10:g.(?_100366182)_(100368360_?)del deletion Glycogen storage disease type III [RCV003105273] Chr1:100366182..100368360 [GRCh37]
Chr1:1p21.2		 pathogenic
NC_000001.10:g.(?_100327039)_(100330165_?)del deletion Glycogen storage disease type III [RCV003105274] Chr1:100327039..100330165 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.10:g.(?_100380935)_(100382063_?)del deletion Glycogen storage disease type III [RCV003105275] Chr1:100380935..100382063 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1082+88G>A single nucleotide variant not provided [RCV001575803] Chr1:99874898 [GRCh38]
Chr1:100340454 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.664+52C>T single nucleotide variant not provided [RCV001544884] Chr1:99864641 [GRCh38]
Chr1:100330197 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1612-236TTC[2] microsatellite not provided [RCV001576347] Chr1:99879687..99879689 [GRCh38]
Chr1:100345243..100345245 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3259+49G>A single nucleotide variant not provided [RCV001577468] Chr1:99892656 [GRCh38]
Chr1:100358212 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.82+1565T>G single nucleotide variant AGL-related disorder [RCV003966210]|Glycogen storage disease type III [RCV003346620]|not provided [RCV001573637] Chr1:99852689 [GRCh38]
Chr1:100318245 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.3588+29G>T single nucleotide variant not provided [RCV001570905] Chr1:99900890 [GRCh38]
Chr1:100366446 [GRCh37]
Chr1:1p21.2		 likely benign
NC_000001.10:g.(?_100316599)_(101709564_?)dup duplication Maple syrup urine disease [RCV003107553] Chr1:100316599..101709564 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3836+53T>A single nucleotide variant not provided [RCV001608305] Chr1:99910900 [GRCh38]
Chr1:100376456 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.665-43A>G single nucleotide variant not provided [RCV001560640] Chr1:99870357 [GRCh38]
Chr1:100335913 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3363-51A>G single nucleotide variant not provided [RCV001561248] Chr1:99900585 [GRCh38]
Chr1:100366141 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2681+58C>T single nucleotide variant not provided [RCV001576761] Chr1:99884761 [GRCh38]
Chr1:100350317 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3949+62G>A single nucleotide variant not provided [RCV001556070] Chr1:99912579 [GRCh38]
Chr1:100378135 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.461-271A>G single nucleotide variant not provided [RCV001688709] Chr1:99864115 [GRCh38]
Chr1:100329671 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.294-122T>C single nucleotide variant not provided [RCV001556495] Chr1:99862135 [GRCh38]
Chr1:100327691 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1424-164T>A single nucleotide variant not provided [RCV001562303] Chr1:99877477 [GRCh38]
Chr1:100343033 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4260-151G>T single nucleotide variant not provided [RCV001714310] Chr1:99916259 [GRCh38]
Chr1:100381815 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.4260-97G>A single nucleotide variant not provided [RCV001716171] Chr1:99916313 [GRCh38]
Chr1:100381869 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.460+81T>G single nucleotide variant not provided [RCV001589409] Chr1:99862504 [GRCh38]
Chr1:100328060 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2813-126G>A single nucleotide variant not provided [RCV001587481] Chr1:99891094 [GRCh38]
Chr1:100356650 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.83-386A>G single nucleotide variant not provided [RCV001590507] Chr1:99861117 [GRCh38]
Chr1:100326673 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2813-23A>G single nucleotide variant not provided [RCV001582297] Chr1:99891197 [GRCh38]
Chr1:100356753 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4259+80dup duplication not provided [RCV001714382] Chr1:99915553..99915554 [GRCh38]
Chr1:100381109..100381110 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.927G>A (p.Ala309=) single nucleotide variant Glycogen storage disease type III [RCV000876881] Chr1:99870838 [GRCh38]
Chr1:100336394 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2682-7T>C single nucleotide variant Glycogen storage disease type III [RCV000952109] Chr1:99887971 [GRCh38]
Chr1:100353527 [GRCh37]
Chr1:1p21.2		 likely benign|conflicting interpretations of pathogenicity
NM_000642.3(AGL):c.2832A>T (p.Ala944=) single nucleotide variant Glycogen storage disease type III [RCV001452974] Chr1:99891239 [GRCh38]
Chr1:100356795 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4527G>A (p.Gln1509=) single nucleotide variant Glycogen storage disease type III [RCV000932569] Chr1:99921579 [GRCh38]
Chr1:100387135 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2319A>G (p.Glu773=) single nucleotide variant Glycogen storage disease type III [RCV001469795] Chr1:99884130 [GRCh38]
Chr1:100349686 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1194T>C (p.Asn398=) single nucleotide variant Glycogen storage disease type III [RCV000978578] Chr1:99875366 [GRCh38]
Chr1:100340922 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1182A>G (p.Glu394=) single nucleotide variant Glycogen storage disease type III [RCV001453018] Chr1:99875253 [GRCh38]
Chr1:100340809 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3882T>A (p.Val1294=) single nucleotide variant Glycogen storage disease type III [RCV001452544] Chr1:99912450 [GRCh38]
Chr1:100378006 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.384T>C (p.Thr128=) single nucleotide variant Glycogen storage disease type III [RCV001504209] Chr1:99862347 [GRCh38]
Chr1:100327903 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2049A>G (p.Glu683=) single nucleotide variant Glycogen storage disease type III [RCV001401083] Chr1:99881339 [GRCh38]
Chr1:100346895 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3588+10T>C single nucleotide variant Glycogen storage disease type III [RCV000973330] Chr1:99900871 [GRCh38]
Chr1:100366427 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3411T>A (p.Pro1137=) single nucleotide variant AGL-related disorder [RCV003970569]|Glycogen storage disease type III [RCV000930731] Chr1:99900684 [GRCh38]
Chr1:100366240 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4488T>G (p.Pro1496=) single nucleotide variant Glycogen storage disease type III [RCV000983330] Chr1:99921540 [GRCh38]
Chr1:100387096 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1875G>A (p.Thr625=) single nucleotide variant Glycogen storage disease type III [RCV000973786] Chr1:99880771 [GRCh38]
Chr1:100346327 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2238A>G (p.Val746=) single nucleotide variant Glycogen storage disease type III [RCV000887854] Chr1:99881621 [GRCh38]
Chr1:100347177 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3040G>A (p.Ala1014Thr) single nucleotide variant Glycogen storage disease type III [RCV001235487] Chr1:99891696 [GRCh38]
Chr1:100357252 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3747dup (p.Gly1250fs) duplication Glycogen storage disease type III [RCV001226505] Chr1:99910757..99910758 [GRCh38]
Chr1:100376313..100376314 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2537T>C (p.Ile846Thr) single nucleotide variant Glycogen storage disease type III [RCV001049922] Chr1:99884442 [GRCh38]
Chr1:100349998 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.775T>C (p.Cys259Arg) single nucleotide variant Glycogen storage disease type III [RCV001219604] Chr1:99870510 [GRCh38]
Chr1:100336066 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.634del (p.Cys212fs) deletion Glycogen storage disease type III [RCV001243278] Chr1:99864557 [GRCh38]
Chr1:100330113 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.265G>T (p.Gly89Cys) single nucleotide variant Glycogen storage disease type III [RCV001243322] Chr1:99861685 [GRCh38]
Chr1:100327241 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1284-2A>G single nucleotide variant Glycogen storage disease type III [RCV001244991] Chr1:99876456 [GRCh38]
Chr1:100342012 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs) deletion Glycogen storage disease type III [RCV001208412] Chr1:99876549..99876552 [GRCh38]
Chr1:100342105..100342108 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2687C>G (p.Ala896Gly) single nucleotide variant Glycogen storage disease type III [RCV001219854] Chr1:99887983 [GRCh38]
Chr1:100353539 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*400T>C single nucleotide variant Glycogen storage disease type III [RCV001102330] Chr1:99922051 [GRCh38]
Chr1:100387607 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr) single nucleotide variant Glycogen storage disease type III [RCV001248424]|Inborn genetic diseases [RCV002570380] Chr1:99881404 [GRCh38]
Chr1:100346960 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.187C>T (p.Arg63Cys) single nucleotide variant Glycogen storage disease type III [RCV001216589]|Inborn genetic diseases [RCV002562413] Chr1:99861607 [GRCh38]
Chr1:100327163 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3642C>T (p.Gly1214=) single nucleotide variant Glycogen storage disease type III [RCV001240011] Chr1:99902736 [GRCh38]
Chr1:100368292 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.2144del (p.Lys715fs) deletion Glycogen storage disease type III [RCV001223705] Chr1:99881433 [GRCh38]
Chr1:100346989 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2181_2183del (p.Glu727del) deletion Glycogen storage disease type III [RCV001217183] Chr1:99881562..99881564 [GRCh38]
Chr1:100347118..100347120 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2125C>T (p.His709Tyr) single nucleotide variant Glycogen storage disease type III [RCV001065257] Chr1:99881415 [GRCh38]
Chr1:100346971 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4325G>A (p.Gly1442Asp) single nucleotide variant Glycogen storage disease type III [RCV001047431] Chr1:99916475 [GRCh38]
Chr1:100382031 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.11:g.(?_99892422)_(99892617_?)del deletion Glycogen storage disease type III [RCV001033036] Chr1:100357978..100358173 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile) single nucleotide variant Glycogen storage disease type III [RCV001066637]|not provided [RCV003311938] Chr1:99881596 [GRCh38]
Chr1:100347152 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2729G>A (p.Arg910Gln) single nucleotide variant Glycogen storage disease type III [RCV001240929] Chr1:99888025 [GRCh38]
Chr1:100353581 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1768G>A (p.Gly590Ser) single nucleotide variant Glycogen storage disease type III [RCV001221126] Chr1:99880664 [GRCh38]
Chr1:100346220 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys) single nucleotide variant Glycogen storage disease type III [RCV001241206]|Inborn genetic diseases [RCV002563995] Chr1:99875243 [GRCh38]
Chr1:100340799 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2357C>T (p.Thr786Met) single nucleotide variant Glycogen storage disease type III [RCV001217663]|not provided [RCV001545842] Chr1:99884168 [GRCh38]
Chr1:100349724 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1627G>A (p.Ala543Thr) single nucleotide variant Glycogen storage disease type III [RCV001238052] Chr1:99879938 [GRCh38]
Chr1:100345494 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2001+8_2001+9delinsCG indel Glycogen storage disease type III [RCV001241339] Chr1:99881185..99881186 [GRCh38]
Chr1:100346741..100346742 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3634A>T (p.Met1212Leu) single nucleotide variant Glycogen storage disease type III [RCV001070218] Chr1:99902728 [GRCh38]
Chr1:100368284 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2264A>G (p.Lys755Arg) single nucleotide variant Glycogen storage disease type III [RCV001235176] Chr1:99881647 [GRCh38]
Chr1:100347203 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4347+1G>C single nucleotide variant Glycogen storage disease type III [RCV001243974] Chr1:99916498 [GRCh38]
Chr1:100382054 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1864A>C (p.Met622Leu) single nucleotide variant Glycogen storage disease type III [RCV001243989] Chr1:99880760 [GRCh38]
Chr1:100346316 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1794A>G (p.Gly598=) single nucleotide variant Glycogen storage disease type III [RCV001100241] Chr1:99880690 [GRCh38]
Chr1:100346246 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4081A>C (p.Ile1361Leu) single nucleotide variant Glycogen storage disease type III [RCV001210312] Chr1:99913658 [GRCh38]
Chr1:100379214 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.385C>G (p.Leu129Val) single nucleotide variant Glycogen storage disease type III [RCV001228088] Chr1:99862348 [GRCh38]
Chr1:100327904 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.10:g.100330092T>A single nucleotide variant Glycogen storage disease type III [RCV000986381] Chr1:99864536 [GRCh38]
Chr1:100330092 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2814T>C (p.Gly938=) single nucleotide variant Glycogen storage disease type III [RCV000913785] Chr1:99891221 [GRCh38]
Chr1:100356777 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1900-13T>A single nucleotide variant Glycogen storage disease type III [RCV000986383] Chr1:99881063 [GRCh38]
Chr1:100346619 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.684C>T (p.Ile228=) single nucleotide variant Glycogen storage disease type III [RCV001277459]|not provided [RCV003736938] Chr1:99870419 [GRCh38]
Chr1:100335975 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.4162-89T>A single nucleotide variant not provided [RCV001549452] Chr1:99915300 [GRCh38]
Chr1:100380856 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3588+43_3588+44del deletion not provided [RCV001595431] Chr1:99900891..99900892 [GRCh38]
Chr1:100366447..100366448 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.4259+262T>C single nucleotide variant not provided [RCV001595686] Chr1:99915748 [GRCh38]
Chr1:100381304 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.4481+307A>G single nucleotide variant not provided [RCV001596143] Chr1:99917038 [GRCh38]
Chr1:100382594 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.959-61_965dup duplication not provided [RCV002254502] Chr1:99874614..99874615 [GRCh38]
Chr1:100340170..100340171 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.82+276T>C single nucleotide variant not provided [RCV001549889] Chr1:99851400 [GRCh38]
Chr1:100316956 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.82+1354T>A single nucleotide variant not provided [RCV001555292] Chr1:99852478 [GRCh38]
Chr1:100318034 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1284-325C>T single nucleotide variant not provided [RCV001560871] Chr1:99876133 [GRCh38]
Chr1:100341689 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3837-217T>C single nucleotide variant not provided [RCV001718116] Chr1:99912188 [GRCh38]
Chr1:100377744 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.4481+245G>C single nucleotide variant not provided [RCV001555618] Chr1:99916976 [GRCh38]
Chr1:100382532 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4259+135del deletion not provided [RCV001547305] Chr1:99915612 [GRCh38]
Chr1:100381168 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.4482-229T>C single nucleotide variant not provided [RCV001550640] Chr1:99921305 [GRCh38]
Chr1:100386861 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1424-124T>A single nucleotide variant not provided [RCV001716168] Chr1:99877517 [GRCh38]
Chr1:100343073 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.665-73A>G single nucleotide variant not provided [RCV001716172] Chr1:99870327 [GRCh38]
Chr1:100335883 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.2681+124G>A single nucleotide variant not provided [RCV001619274] Chr1:99884827 [GRCh38]
Chr1:100350383 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.958+200C>T single nucleotide variant not provided [RCV001655337] Chr1:99871069 [GRCh38]
Chr1:100336625 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.1736-213C>T single nucleotide variant not provided [RCV001674769] Chr1:99880419 [GRCh38]
Chr1:100345975 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3589-348G>A single nucleotide variant not provided [RCV001716889] Chr1:99902335 [GRCh38]
Chr1:100367891 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.82+1248del deletion not provided [RCV001717735] Chr1:99852352 [GRCh38]
Chr1:100317908 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.83-353G>C single nucleotide variant not provided [RCV001539909] Chr1:99861150 [GRCh38]
Chr1:100326706 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3588+44dup duplication not provided [RCV001717126] Chr1:99900890..99900891 [GRCh38]
Chr1:100366446..100366447 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3083+84C>A single nucleotide variant not provided [RCV001594123] Chr1:99891823 [GRCh38]
Chr1:100357379 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2308+172T>C single nucleotide variant not provided [RCV001581202] Chr1:99881863 [GRCh38]
Chr1:100347419 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3362+249T>C single nucleotide variant not provided [RCV001581277] Chr1:99896637 [GRCh38]
Chr1:100362193 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.82+1432dup duplication not provided [RCV001715691] Chr1:99852536..99852537 [GRCh38]
Chr1:100318092..100318093 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3363-344T>C single nucleotide variant not provided [RCV001564660] Chr1:99900292 [GRCh38]
Chr1:100365848 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3701-211T>C single nucleotide variant not provided [RCV001591581] Chr1:99910501 [GRCh38]
Chr1:100376057 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3949+294A>T single nucleotide variant not provided [RCV001716439] Chr1:99912811 [GRCh38]
Chr1:100378367 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.959-170A>G single nucleotide variant not provided [RCV001677485] Chr1:99874517 [GRCh38]
Chr1:100340073 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.*1720A>C single nucleotide variant Glycogen storage disease type III [RCV001102435] Chr1:99923371 [GRCh38]
Chr1:100388927 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg) single nucleotide variant Glycogen storage disease type III [RCV001098582] Chr1:99900842 [GRCh38]
Chr1:100366398 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1571G>A (p.Arg524His) single nucleotide variant Glycogen storage disease type III [RCV001047067]|not provided [RCV003480922] Chr1:99877788 [GRCh38]
Chr1:100343344 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.*1T>A single nucleotide variant Glycogen storage disease type III [RCV001100348] Chr1:99921652 [GRCh38]
Chr1:100387208 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu) single nucleotide variant Glycogen storage disease type III [RCV001100347] Chr1:99915459 [GRCh38]
Chr1:100381015 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1610T>C single nucleotide variant Glycogen storage disease type III [RCV001102434] Chr1:99923261 [GRCh38]
Chr1:100388817 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1766G>A single nucleotide variant Glycogen storage disease type III [RCV001102436] Chr1:99923417 [GRCh38]
Chr1:100388973 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1817G>A single nucleotide variant Glycogen storage disease type III [RCV001102437] Chr1:99923468 [GRCh38]
Chr1:100389024 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.11:g.(?_99862247)_(99862433_?)del deletion Glycogen storage disease type III [RCV001031262] Chr1:100327803..100327989 [GRCh37]
Chr1:1p21.2		 pathogenic
NC_000001.11:g.(?_99921524)_(99921661_?)del deletion Glycogen storage disease type III [RCV001033117] Chr1:100387080..100387217 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.60G>C (p.Lys20Asn) single nucleotide variant Glycogen storage disease type III [RCV001068317] Chr1:99851102 [GRCh38]
Chr1:100316658 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3311T>G (p.Phe1104Cys) single nucleotide variant Glycogen storage disease type III [RCV001047730] Chr1:99896337 [GRCh38]
Chr1:100361893 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2002-55A>T single nucleotide variant not provided [RCV001567938] Chr1:99881237 [GRCh38]
Chr1:100346793 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2682-39A>T single nucleotide variant not provided [RCV001541786] Chr1:99887939 [GRCh38]
Chr1:100353495 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3950-238A>G single nucleotide variant not provided [RCV001586651] Chr1:99913289 [GRCh38]
Chr1:100378845 [GRCh37]
Chr1:1p21.2		 likely benign
NC_000001.11:g.(?_99910692)_(99910867_?)del deletion Glycogen storage disease type III [RCV001033380] Chr1:100376248..100376423 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2681+5G>C single nucleotide variant Glycogen storage disease type III [RCV001647340] Chr1:99884708 [GRCh38]
Chr1:100350264 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2905dup (p.Tyr969fs) duplication Glycogen storage disease type III [RCV001036247] Chr1:99891311..99891312 [GRCh38]
Chr1:100356867..100356868 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2950-121A>G single nucleotide variant not provided [RCV001683866] Chr1:99891485 [GRCh38]
Chr1:100357041 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.4259+79_4259+80dup duplication not provided [RCV001585078] Chr1:99915553..99915554 [GRCh38]
Chr1:100381109..100381110 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3259+26A>G single nucleotide variant AGL-related disorder [RCV003941036]|not provided [RCV001587049] Chr1:99892633 [GRCh38]
Chr1:100358189 [GRCh37]
Chr1:1p21.2		 benign|likely benign
NM_000642.3(AGL):c.3481_3589-405del deletion Glycogen storage disease type III [RCV001004106] Chr1:99900752..99902276 [GRCh38]
Chr1:100366308..100367832 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.665-196del deletion not provided [RCV001725548] Chr1:99870194 [GRCh38]
Chr1:100335750 [GRCh37]
Chr1:1p21.2		 benign
NM_000642.3(AGL):c.3976G>A (p.Glu1326Lys) single nucleotide variant Glycogen storage disease type III [RCV001219729] Chr1:99913553 [GRCh38]
Chr1:100379109 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4259+3A>T single nucleotide variant Glycogen storage disease type III [RCV001071007] Chr1:99915489 [GRCh38]
Chr1:100381045 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3531C>G (p.Cys1177Trp) single nucleotide variant Glycogen storage disease type III [RCV001046735] Chr1:99900804 [GRCh38]
Chr1:100366360 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3528G>T (p.Lys1176Asn) single nucleotide variant Glycogen storage disease type III [RCV001236730] Chr1:99900801 [GRCh38]
Chr1:100366357 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3046A>T (p.Thr1016Ser) single nucleotide variant Glycogen storage disease type III [RCV001233364] Chr1:99891702 [GRCh38]
Chr1:100357258 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2597A>T (p.His866Leu) single nucleotide variant Glycogen storage disease type III [RCV001216039] Chr1:99884619 [GRCh38]
Chr1:100350175 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3755A>G (p.Asn1252Ser) single nucleotide variant Glycogen storage disease type III [RCV001207526] Chr1:99910766 [GRCh38]
Chr1:100376322 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3589-3C>G single nucleotide variant Glycogen storage disease type III [RCV001217602] Chr1:99902680 [GRCh38]
Chr1:100368236 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic|uncertain significance
NM_000642.3(AGL):c.1526T>G (p.Met509Arg) single nucleotide variant Glycogen storage disease type III [RCV001206527] Chr1:99877743 [GRCh38]
Chr1:100343299 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser) single nucleotide variant Glycogen storage disease type III [RCV001208856]|Inborn genetic diseases [RCV003246756] Chr1:99879957 [GRCh38]
Chr1:100345513 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.136G>T (p.Val46Leu) single nucleotide variant Glycogen storage disease type III [RCV001052812]|Inborn genetic diseases [RCV004619494] Chr1:99861556 [GRCh38]
Chr1:100327112 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) single nucleotide variant Glycogen storage disease type III [RCV001204035] Chr1:99870818 [GRCh38]
Chr1:100336374 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2905T>C (p.Tyr969His) single nucleotide variant Glycogen storage disease type III [RCV001096822] Chr1:99891312 [GRCh38]
Chr1:100356868 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4301A>G (p.Asn1434Ser) single nucleotide variant Glycogen storage disease type III [RCV001050194] Chr1:99916451 [GRCh38]
Chr1:100382007 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter) single nucleotide variant Glycogen storage disease type III [RCV001060713] Chr1:99913664 [GRCh38]
Chr1:100379220 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.*615A>G single nucleotide variant Glycogen storage disease type III [RCV001096927] Chr1:99922266 [GRCh38]
Chr1:100387822 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*2060T>C single nucleotide variant Glycogen storage disease type III [RCV001097027]|not provided [RCV002511033] Chr1:99923711 [GRCh38]
Chr1:100389267 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.*229A>G single nucleotide variant Glycogen storage disease type III [RCV001102328] Chr1:99921880 [GRCh38]
Chr1:100387436 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1860G>T single nucleotide variant Glycogen storage disease type III [RCV001102438] Chr1:99923511 [GRCh38]
Chr1:100389067 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys) single nucleotide variant Glycogen storage disease type III [RCV001248270]|Inborn genetic diseases [RCV002570374] Chr1:99896315 [GRCh38]
Chr1:100361871 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2942T>C (p.Ile981Thr) single nucleotide variant Glycogen storage disease type III [RCV001236812] Chr1:99891349 [GRCh38]
Chr1:100356905 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4379G>A (p.Arg1460His) single nucleotide variant Glycogen storage disease type III [RCV001057749] Chr1:99916629 [GRCh38]
Chr1:100382185 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1284-4A>T single nucleotide variant Glycogen storage disease type III [RCV001098472] Chr1:99876454 [GRCh38]
Chr1:100342010 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1900-2A>G single nucleotide variant Glycogen storage disease type III [RCV001207730] Chr1:99881074 [GRCh38]
Chr1:100346630 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2798A>G (p.Tyr933Cys) single nucleotide variant Glycogen storage disease type III [RCV001054045] Chr1:99888094 [GRCh38]
Chr1:100353650 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*698A>G single nucleotide variant Glycogen storage disease type III [RCV001098677] Chr1:99922349 [GRCh38]
Chr1:100387905 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1186-3C>G single nucleotide variant Glycogen storage disease type III [RCV001205839] Chr1:99875355 [GRCh38]
Chr1:100340911 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter) single nucleotide variant Glycogen storage disease type III [RCV001219265] Chr1:99913620 [GRCh38]
Chr1:100379176 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.996C>A (p.His332Gln) single nucleotide variant Glycogen storage disease type III [RCV001069429] Chr1:99874724 [GRCh38]
Chr1:100340280 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1224C>T single nucleotide variant Glycogen storage disease type III [RCV001100479] Chr1:99922875 [GRCh38]
Chr1:100388431 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.223G>A (p.Asp75Asn) single nucleotide variant Glycogen storage disease type III [RCV001206272] Chr1:99861643 [GRCh38]
Chr1:100327199 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3084-5T>G single nucleotide variant Glycogen storage disease type III [RCV001248137] Chr1:99892427 [GRCh38]
Chr1:100357983 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1424-7T>A single nucleotide variant Glycogen storage disease type III [RCV001218006] Chr1:99877634 [GRCh38]
Chr1:100343190 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2818A>G (p.Met940Val) single nucleotide variant Glycogen storage disease type III [RCV001069919] Chr1:99891225 [GRCh38]
Chr1:100356781 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter) single nucleotide variant Glycogen storage disease type III [RCV001215338] Chr1:99900738 [GRCh38]
Chr1:100366294 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln) single nucleotide variant Glycogen storage disease type III [RCV001059209] Chr1:99900725 [GRCh38]
Chr1:100366281 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2386A>G (p.Ile796Val) single nucleotide variant Glycogen storage disease type III [RCV001216599] Chr1:99884197 [GRCh38]
Chr1:100349753 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1429G>C (p.Glu477Gln) single nucleotide variant Glycogen storage disease type III [RCV001038212] Chr1:99877646 [GRCh38]
Chr1:100343202 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu) single nucleotide variant Glycogen storage disease type III [RCV001246218]|not provided [RCV003738023] Chr1:99915413 [GRCh38]
Chr1:100380969 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr) single nucleotide variant Glycogen storage disease type III [RCV001246369] Chr1:99876493 [GRCh38]
Chr1:100342049 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.325G>T (p.Val109Leu) single nucleotide variant Glycogen storage disease type III [RCV001248480] Chr1:99862288 [GRCh38]
Chr1:100327844 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys) single nucleotide variant Glycogen storage disease type III [RCV001214310]|Inborn genetic diseases [RCV003284063]|not provided [RCV003222258] Chr1:99880725 [GRCh38]
Chr1:100346281 [GRCh37]
Chr1:1p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000642.3(AGL):c.*1558T>C single nucleotide variant Glycogen storage disease type III [RCV001102432] Chr1:99923209 [GRCh38]
Chr1:100388765 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.*1581G>C single nucleotide variant Glycogen storage disease type III [RCV001102433] Chr1:99923232 [GRCh38]
Chr1:100388788 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg) single nucleotide variant Glycogen storage disease type III [RCV001096823] Chr1:99892503 [GRCh38]
Chr1:100358059 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs) microsatellite Glycogen storage disease type III [RCV001250148] Chr1:99877713..99877714 [GRCh38]
Chr1:100343269..100343270 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3581G>A (p.Gly1194Asp) single nucleotide variant Glycogen storage disease type III [RCV001229167] Chr1:99900854 [GRCh38]
Chr1:100366410 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.926C>T (p.Ala309Val) single nucleotide variant Glycogen storage disease type III [RCV001055490] Chr1:99870837 [GRCh38]
Chr1:100336393 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.367C>G (p.Pro123Ala) single nucleotide variant Glycogen storage disease type III [RCV001102147] Chr1:99862330 [GRCh38]
Chr1:100327886 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3419T>G (p.Leu1140Arg) single nucleotide variant Glycogen storage disease type III [RCV001230541] Chr1:99900692 [GRCh38]
Chr1:100366248 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.-104C>T single nucleotide variant Glycogen storage disease type III [RCV001098372] Chr1:99850380 [GRCh38]
Chr1:100315936 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1237G>A (p.Gly413Ser) single nucleotide variant Glycogen storage disease type III [RCV001214890] Chr1:99875409 [GRCh38]
Chr1:100340965 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) single nucleotide variant Glycogen storage disease type III [RCV001062519] Chr1:99881445 [GRCh38]
Chr1:100347001 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.*1359A>G single nucleotide variant Glycogen storage disease type III [RCV001100480] Chr1:99923010 [GRCh38]
Chr1:100388566 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.24_25del (p.Ile9fs) deletion Glycogen storage disease type III [RCV001254058] Chr1:99851066..99851067 [GRCh38]
Chr1:100316622..100316623 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter) single nucleotide variant Glycogen storage disease type III [RCV001260901] Chr1:99916621 [GRCh38]
Chr1:100382177 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly) single nucleotide variant Glycogen storage disease type III [RCV001333541] Chr1:99891318 [GRCh38]
Chr1:100356874 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) single nucleotide variant Glycogen storage disease type III [RCV001263786] Chr1:99862417 [GRCh38]
Chr1:100327973 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.458C>A (p.Ser153Ter) single nucleotide variant Glycogen storage disease type III [RCV001263787] Chr1:99862421 [GRCh38]
Chr1:100327977 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.680G>A (p.Trp227Ter) single nucleotide variant Glycogen storage disease type III [RCV001263789] Chr1:99870415 [GRCh38]
Chr1:100335971 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.681G>A (p.Trp227Ter) single nucleotide variant Glycogen storage disease type III [RCV001263790] Chr1:99870416 [GRCh38]
Chr1:100335972 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter) single nucleotide variant Glycogen storage disease type III [RCV001263728] Chr1:99916425 [GRCh38]
Chr1:100381981 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.516C>A (p.Cys172Ter) single nucleotide variant Glycogen storage disease type III [RCV001263788] Chr1:99864441 [GRCh38]
Chr1:100329997 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter) single nucleotide variant Glycogen storage disease type III [RCV001264166] Chr1:99880038 [GRCh38]
Chr1:100345594 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter) single nucleotide variant Glycogen storage disease type III [RCV001264293] Chr1:99910846 [GRCh38]
Chr1:100376402 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter) single nucleotide variant Glycogen storage disease type III [RCV001293785] Chr1:99880684 [GRCh38]
Chr1:100346240 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.2949+5G>A single nucleotide variant Glycogen storage disease type III [RCV001293793] Chr1:99891361 [GRCh38]
Chr1:100356917 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.867G>A (p.Trp289Ter) single nucleotide variant Glycogen storage disease type III [RCV001264160] Chr1:99870778 [GRCh38]
Chr1:100336334 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter) single nucleotide variant Glycogen storage disease type III [RCV001264162] Chr1:99874766 [GRCh38]
Chr1:100340322 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter) single nucleotide variant Glycogen storage disease type III [RCV001264163] Chr1:99875181 [GRCh38]
Chr1:100340737 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter) single nucleotide variant Glycogen storage disease type III [RCV001264164] Chr1:99876591 [GRCh38]
Chr1:100342147 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter) single nucleotide variant Glycogen storage disease type III [RCV001264167] Chr1:99880786 [GRCh38]
Chr1:100346342 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter) single nucleotide variant Glycogen storage disease type III [RCV001263727] Chr1:99912467 [GRCh38]
Chr1:100378023 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter) single nucleotide variant Glycogen storage disease type III [RCV001264287] Chr1:99884591 [GRCh38]
Chr1:100350147 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter) single nucleotide variant Glycogen storage disease type III [RCV001264288] Chr1:99888034 [GRCh38]
Chr1:100353590 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) single nucleotide variant Glycogen storage disease type III [RCV001264289] Chr1:99891301 [GRCh38]
Chr1:100356857 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter) single nucleotide variant Glycogen storage disease type III [RCV001264290] Chr1:99900753 [GRCh38]
Chr1:100366309 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter) single nucleotide variant Glycogen storage disease type III [RCV001264291] Chr1:99910729 [GRCh38]
Chr1:100376285 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter) single nucleotide variant Glycogen storage disease type III [RCV001264292] Chr1:99910804 [GRCh38]
Chr1:100376360 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter) single nucleotide variant Glycogen storage disease type III [RCV001264294] Chr1:99912463 [GRCh38]
Chr1:100378019 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.991C>T (p.Gln331Ter) single nucleotide variant Glycogen storage disease type III [RCV001264161] Chr1:99874719 [GRCh38]
Chr1:100340275 [GRCh37]
Chr1:1p21.2		 likely pathogenic
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter) single nucleotide variant Glycogen storage disease type III [RCV001264165] Chr1:99879960 [GRCh38]
Chr1:100345516 [GRCh37]
Chr1:1p21.2		 pathogenic|likely pathogenic
NM_000642.3(AGL):c.3652C>G (p.Arg1218Gly) single nucleotide variant Glycogen storage disease type III [RCV001348550] Chr1:99902746 [GRCh38]
Chr1:100368302 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.805A>G (p.Lys269Glu) single nucleotide variant Glycogen storage disease type III [RCV001277460] Chr1:99870540 [GRCh38]
Chr1:100336096 [GRCh37]
Chr1:1p21.2		 uncertain significance
NC_000001.10:g.(?_100314640)_(100390579_?)dup duplication Glycogen storage disease type III [RCV001350985] Chr1:100314640..100390579 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3020T>C (p.Phe1007Ser) single nucleotide variant Glycogen storage disease type III [RCV001341049] Chr1:99891676 [GRCh38]
Chr1:100357232 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1945A>G (p.Met649Val) single nucleotide variant Glycogen storage disease type III [RCV001327012] Chr1:99881121 [GRCh38]
Chr1:100346677 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3639G>C (p.Gln1213His) single nucleotide variant Glycogen storage disease type III [RCV001330008] Chr1:99902733 [GRCh38]
Chr1:100368289 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2578G>A (p.Val860Ile) single nucleotide variant Glycogen storage disease type III [RCV001314870] Chr1:99884600 [GRCh38]
Chr1:100350156 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.874A>C (p.Ile292Leu) single nucleotide variant Glycogen storage disease type III [RCV001316789] Chr1:99870785 [GRCh38]
Chr1:100336341 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1541A>G (p.Glu514Gly) single nucleotide variant Glycogen storage disease type III [RCV001341463] Chr1:99877758 [GRCh38]
Chr1:100343314 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1284G>A (p.Arg428=) single nucleotide variant Glycogen storage disease type III [RCV001339918] Chr1:99876458 [GRCh38]
Chr1:100342014 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg) single nucleotide variant Glycogen storage disease type III [RCV001330909]|not provided [RCV004691418] Chr1:99902771 [GRCh38]
Chr1:100368327 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3771C>T (p.Gly1257=) single nucleotide variant Glycogen storage disease type III [RCV001317446] Chr1:99910782 [GRCh38]
Chr1:100376338 [GRCh37]
Chr1:1p21.2		 likely benign|uncertain significance
NM_000642.3(AGL):c.782T>G (p.Val261Gly) single nucleotide variant Glycogen storage disease type III [RCV001341892] Chr1:99870517 [GRCh38]
Chr1:100336073 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg) single nucleotide variant Glycogen storage disease type III [RCV001314781]|Inborn genetic diseases [RCV003263945] Chr1:99891342 [GRCh38]
Chr1:100356898 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1555T>G (p.Tyr519Asp) single nucleotide variant Glycogen storage disease type III [RCV001321240] Chr1:99877772 [GRCh38]
Chr1:100343328 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1704del (p.Thr569fs) deletion Glycogen storage disease type III [RCV001333540] Chr1:99880014 [GRCh38]
Chr1:100345570 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.4G>A (p.Gly2Arg) single nucleotide variant Glycogen storage disease type III [RCV001320478] Chr1:99851046 [GRCh38]
Chr1:100316602 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2497C>T (p.Gln833Ter) single nucleotide variant Glycogen storage disease type III [RCV001293786] Chr1:99884402 [GRCh38]
Chr1:100349958 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.2996del (p.Pro999fs) deletion Glycogen storage disease type III [RCV001293790] Chr1:99891650 [GRCh38]
Chr1:100357206 [GRCh37]
Chr1:1p21.2		 pathogenic|association
NM_000642.3(AGL):c.1020del (p.Glu340fs) deletion Glycogen storage disease type III [RCV001328372]|not provided [RCV002292629] Chr1:99874747 [GRCh38]
Chr1:100340303 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.3956C>G (p.Ala1319Gly) single nucleotide variant Glycogen storage disease type III [RCV001341124]|Inborn genetic diseases [RCV003365342] Chr1:99913533 [GRCh38]
Chr1:100379089 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro) single nucleotide variant Glycogen storage disease type III [RCV001351838]|not provided [RCV003481088] Chr1:99875371 [GRCh38]
Chr1:100340927 [GRCh37]
Chr1:1p21.2		 likely pathogenic|uncertain significance
NM_000642.3(AGL):c.393A>G (p.Thr131=) single nucleotide variant Glycogen storage disease type III [RCV001396905] Chr1:99862356 [GRCh38]
Chr1:100327912 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2707G>A (p.Glu903Lys) single nucleotide variant Glycogen storage disease type III [RCV001362307] Chr1:99888003 [GRCh38]
Chr1:100353559 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1671C>A (p.Phe557Leu) single nucleotide variant Glycogen storage disease type III [RCV001352345] Chr1:99879982 [GRCh38]
Chr1:100345538 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.1372C>A (p.His458Asn) single nucleotide variant Glycogen storage disease type III [RCV001361597] Chr1:99876546 [GRCh38]
Chr1:100342102 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2963del (p.Leu988fs) deletion Glycogen storage disease type III [RCV001382476] Chr1:99891618 [GRCh38]
Chr1:100357174 [GRCh37]
Chr1:1p21.2		 pathogenic
NM_000642.3(AGL):c.1310T>G (p.Ile437Arg) single nucleotide variant Glycogen storage disease type III [RCV001372719] Chr1:99876484 [GRCh38]
Chr1:100342040 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3279T>C (p.Ser1093=) single nucleotide variant Glycogen storage disease type III [RCV001412921] Chr1:99896305 [GRCh38]
Chr1:100361861 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.231T>C (p.Ser77=) single nucleotide variant Glycogen storage disease type III [RCV001395188] Chr1:99861651 [GRCh38]
Chr1:100327207 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.2022A>G (p.Glu674=) single nucleotide variant Glycogen storage disease type III [RCV001414462] Chr1:99881312 [GRCh38]
Chr1:100346868 [GRCh37]
Chr1:1p21.2		 likely benign
NM_000642.3(AGL):c.1381T>C (p.Trp461Arg) single nucleotide variant Glycogen storage disease type III [RCV001307320] Chr1:99876555 [GRCh38]
Chr1:100342111 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu) single nucleotide variant Glycogen storage disease type III [RCV001307610] Chr1:99910794 [GRCh38]
Chr1:100376350 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly) single nucleotide variant Glycogen storage disease type III [RCV001278804] Chr1:99913617 [GRCh38]
Chr1:100379173 [GRCh37]
Chr1:1p21.2		 uncertain significance
NM_000642.3(AGL):c.2466A>T (p.Gly822=) single nucleotide variant Glycogen storage disease type III [RCV00142143