GAA (alpha glucosidase) - Rat Genome Database

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Gene: GAA (alpha glucosidase) Homo sapiens
Analyze
Symbol: GAA
Name: alpha glucosidase
RGD ID: 1353184
HGNC Page HGNC:4065
Description: Enables alpha-1,4-glucosidase activity. Involved in several processes, including glycogen catabolic process; striated muscle contraction; and vacuolar sequestering. Located in lysosome. Implicated in glycogen storage disease II.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acid; acid maltase; aglucosidase alfa; glucosidase alpha, acid; glucosidase, alpha; LYAG; lysosomal alpha-glucosidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381780,101,581 - 80,119,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1780,101,533 - 80,119,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371778,075,380 - 78,093,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361775,689,950 - 75,708,274 (+)NCBINCBI36Build 36hg18NCBI36
Build 341775,689,876 - 75,708,273NCBI
Celera1774,704,156 - 74,722,487 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1773,516,452 - 73,534,833 (+)NCBIHuRef
CHM1_11778,161,682 - 78,180,006 (+)NCBICHM1_1
T2T-CHM13v2.01781,002,020 - 81,020,360 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-methylumbelliferyl beta-D-glucoside  (EXP)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
azoxystrobin  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
coumarin  (EXP)
deguelin  (EXP)
endosulfan  (ISO)
enniatin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
finasteride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
leflunomide  (ISO)
menadione  (EXP)
methidathion  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrimidifen  (EXP)
quercetin  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sunitinib  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Human Phenotype
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal CNS myelination  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Areflexia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to stand  (IAGP)
Diaphragmatic paralysis  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty descending stairs  (IAGP)
Difficulty in tongue movements  (IAGP)
Difficulty walking  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dyspnea  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Exercise intolerance  (IAGP)
Facial hypotonia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Firm muscles  (IAGP)
Generalized muscle weakness  (IAGP)
Hearing impairment  (IAGP)
Heart murmur  (IAGP)
Hepatomegaly  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Increased circulating creatine kinase MB isoform  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased circulating NT-proBNP concentration  (IAGP)
Increased muscle glycogen content  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Left ventricular hypertrophy  (IAGP)
Left ventricular outflow tract obstruction  (IAGP)
Limb muscle weakness  (IAGP)
Low-output congestive heart failure  (IAGP)
Macroglossia  (IAGP)
Motor delay  (IAGP)
Multifocal hyperintensity of cerebral white matter on MRI  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myopathy  (IAGP)
Oligosacchariduria  (IAGP)
Pleural effusion  (IAGP)
Prolonged QT interval  (IAGP)
Proximal muscle weakness  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced muscle alpha-1,4-glucosidase activity  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory failure requiring assisted ventilation  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Respiratory tract infection  (IAGP)
Right axis deviation  (IAGP)
Shortened PR interval  (IAGP)
Sinus tachycardia  (IAGP)
Splenomegaly  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Urinary incontinence  (IAGP)
Ventricular fibrillation  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
9. Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV. Yi H, etal., Mol Genet Metab Rep. 2016 Oct 4;9:31-33. doi: 10.1016/j.ymgmr.2016.09.008. eCollection 2016 Dec.
Additional References at PubMed
PMID:1652892   PMID:1678778   PMID:1684505   PMID:1704656   PMID:1736542   PMID:1856189   PMID:1898413   PMID:2076345   PMID:2111708   PMID:2136376   PMID:2187500   PMID:2203258  
PMID:2268276   PMID:2283726   PMID:2355006   PMID:2541446   PMID:2542563   PMID:2649653   PMID:2825177   PMID:2829950   PMID:2959866   PMID:3049072   PMID:3099781   PMID:3264072  
PMID:5264799   PMID:7603530   PMID:7695647   PMID:7717400   PMID:7866409   PMID:7881422   PMID:7881425   PMID:7945303   PMID:7981676   PMID:8093218   PMID:8094613   PMID:8218172  
PMID:8401535   PMID:8416962   PMID:8435067   PMID:8486380   PMID:8558570   PMID:8673525   PMID:8786092   PMID:8794361   PMID:8794362   PMID:8834250   PMID:8912788   PMID:8935410  
PMID:9109416   PMID:9505277   PMID:9521422   PMID:9535769   PMID:9554747   PMID:9660056   PMID:10189220   PMID:10206684   PMID:10338092   PMID:10737124   PMID:10931430   PMID:11027569  
PMID:11071489   PMID:11530211   PMID:11738358   PMID:11752220   PMID:11854868   PMID:11973631   PMID:12065598   PMID:12477932   PMID:12560567   PMID:12601120   PMID:12719582   PMID:12754519  
PMID:12923862   PMID:14695532   PMID:15145338   PMID:15313146   PMID:15489334   PMID:15520017   PMID:15668445   PMID:15993875   PMID:16052631   PMID:16335952   PMID:16433701   PMID:16547752  
PMID:16782080   PMID:16917947   PMID:17056254   PMID:17092519   PMID:17210890   PMID:17213836   PMID:17293352   PMID:17592248   PMID:17616415   PMID:17897319   PMID:17915575   PMID:18215327  
PMID:18285536   PMID:18301443   PMID:18314154   PMID:18330979   PMID:18425781   PMID:18429042   PMID:18458862   PMID:18607768   PMID:18757064   PMID:19056867   PMID:19343043   PMID:19362502  
PMID:19609281   PMID:19834502   PMID:19913121   PMID:19946888   PMID:20080426   PMID:20301438   PMID:20350966   PMID:20628086   PMID:21039225   PMID:21484825   PMID:21873635   PMID:21982629  
PMID:21988832   PMID:22157746   PMID:22268729   PMID:22644586   PMID:22658377   PMID:22939629   PMID:23000108   PMID:23376485   PMID:23533145   PMID:23884227   PMID:24107549   PMID:24150945  
PMID:24158270   PMID:24384324   PMID:24399866   PMID:25026126   PMID:25183957   PMID:25231351   PMID:25243733   PMID:25526786   PMID:25609649   PMID:25681614   PMID:25921289   PMID:26231297  
PMID:26344197   PMID:26575883   PMID:26580301   PMID:27238910   PMID:27322221   PMID:27362911   PMID:27473031   PMID:28394184   PMID:28514442   PMID:28657663   PMID:28763149   PMID:29061980  
PMID:29102549   PMID:29181627   PMID:29274340   PMID:29509190   PMID:30155607   PMID:30217970   PMID:30281819   PMID:30655185   PMID:31073040   PMID:31228295   PMID:31510962   PMID:31932471  
PMID:31980649   PMID:32049654   PMID:32125626   PMID:32126021   PMID:32238831   PMID:32504392   PMID:32687490   PMID:32711049   PMID:32718219   PMID:32792077   PMID:32807901   PMID:33001583  
PMID:33260301   PMID:33513417   PMID:33545068   PMID:33567341   PMID:33578445   PMID:33931930   PMID:33961781   PMID:33971197   PMID:33972680   PMID:34133714   PMID:34405923   PMID:34530085  
PMID:34709727   PMID:34864681   PMID:35411297   PMID:35532199   PMID:35944360   PMID:36105079   PMID:36215168   PMID:36517654   PMID:36805083   PMID:37470282   PMID:37542277   PMID:37827155  


Genomics

Comparative Map Data
GAA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381780,101,581 - 80,119,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1780,101,533 - 80,119,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371778,075,380 - 78,093,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361775,689,950 - 75,708,274 (+)NCBINCBI36Build 36hg18NCBI36
Build 341775,689,876 - 75,708,273NCBI
Celera1774,704,156 - 74,722,487 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1773,516,452 - 73,534,833 (+)NCBIHuRef
CHM1_11778,161,682 - 78,180,006 (+)NCBICHM1_1
T2T-CHM13v2.01781,002,020 - 81,020,360 (+)NCBIT2T-CHM13v2.0
Gaa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911119,158,789 - 119,176,284 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11119,158,713 - 119,176,280 (+)EnsemblGRCm39 Ensembl
GRCm3811119,267,963 - 119,285,458 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11119,267,887 - 119,285,454 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711119,129,281 - 119,147,012 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611119,084,134 - 119,101,542 (+)NCBIMGSCv36mm8
Celera11131,012,899 - 131,030,625 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1183.35NCBI
Gaa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810105,028,106 - 105,045,365 (+)NCBIGRCr8
mRatBN7.210104,529,673 - 104,546,836 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10104,529,747 - 104,546,836 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10109,632,590 - 109,649,496 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010109,095,616 - 109,112,522 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010104,450,455 - 104,467,465 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010108,395,873 - 108,412,999 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10108,395,860 - 108,413,059 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010108,007,708 - 108,024,833 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera10103,077,652 - 103,094,623 (+)NCBICelera
Cytogenetic Map10q32.3NCBI
Gaa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555062,764,959 - 2,783,231 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555062,764,959 - 2,783,231 (-)NCBIChiLan1.0ChiLan1.0
GAA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21996,163,010 - 96,181,590 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117100,991,586 - 101,009,881 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01774,188,296 - 74,206,593 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11779,723,683 - 79,741,839 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1779,723,699 - 79,741,839 (+)Ensemblpanpan1.1panPan2
GAA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.191,601,092 - 1,615,582 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl91,601,121 - 1,656,597 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha92,240,939 - 2,255,430 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.092,233,266 - 2,247,757 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl92,233,268 - 2,247,881 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.192,256,768 - 2,271,257 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.092,382,084 - 2,396,575 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.092,463,363 - 2,477,882 (-)NCBIUU_Cfam_GSD_1.0
Gaa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056022,269,664 - 2,286,386 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365944,125,595 - 4,142,261 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl122,314,591 - 2,336,988 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1122,315,807 - 2,339,867 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2122,297,287 - 2,411,558 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GAA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11672,064,315 - 72,083,293 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1672,067,267 - 72,083,349 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607743,368,453 - 43,388,090 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gaa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248019,217,639 - 9,235,931 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248019,217,633 - 9,235,931 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GAA
2109 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) single nucleotide variant Glycogen storage disease, type II [RCV000545406] Chr17:80117724 [GRCh38]
Chr17:78091523 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1929G>A (p.Gly643=) single nucleotide variant Glycogen storage disease, type II [RCV000547082] Chr17:80112916 [GRCh38]
Chr17:78086715 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) single nucleotide variant Glycogen storage disease, type II [RCV000548222] Chr17:80104734 [GRCh38]
Chr17:78078533 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1416C>T (p.Thr472=) single nucleotide variant Glycogen storage disease, type II [RCV001087314]|not provided [RCV000727406] Chr17:80110034 [GRCh38]
Chr17:78083833 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) deletion Glycogen storage disease, type II [RCV000559933] Chr17:80117726..80117728 [GRCh38]
Chr17:78091525..78091527 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.663C>T (p.Ile221=) single nucleotide variant Cardiovascular phenotype [RCV002367774]|Glycogen storage disease, type II [RCV001080342]|not provided [RCV000598504] Chr17:80105865 [GRCh38]
Chr17:78079664 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2725G>A (p.Val909Met) single nucleotide variant Glycogen storage disease, type II [RCV000545976]|not provided [RCV000731605]|not specified [RCV003155227] Chr17:80118731 [GRCh38]
Chr17:78092530 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.693-4G>A single nucleotide variant Glycogen storage disease, type II [RCV000548027] Chr17:80107553 [GRCh38]
Chr17:78081352 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.783C>T (p.Ala261=) single nucleotide variant Glycogen storage disease, type II [RCV000551801] Chr17:80107647 [GRCh38]
Chr17:78081446 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2190-4G>A single nucleotide variant Glycogen storage disease, type II [RCV001083210]|not provided [RCV000588046] Chr17:80116964 [GRCh38]
Chr17:78090763 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.69C>T (p.Thr23=) single nucleotide variant Glycogen storage disease, type II [RCV000556024] Chr17:80104655 [GRCh38]
Chr17:78078454 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2283C>T (p.Ala761=) single nucleotide variant Cardiovascular phenotype [RCV002448616]|Glycogen storage disease, type II [RCV000556622] Chr17:80117061 [GRCh38]
Chr17:78090860 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.194C>A (p.Pro65His) single nucleotide variant Glycogen storage disease, type II [RCV000560407] Chr17:80104780 [GRCh38]
Chr17:78078579 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) single nucleotide variant Glycogen storage disease II, adult form [RCV000004238]|Glycogen storage disease, type II [RCV000409137]|not provided [RCV000788193] Chr17:80112914 [GRCh38]
Chr17:78086713 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.-32-13T>G single nucleotide variant Cardiovascular phenotype [RCV002321471]|GAA-related condition [RCV003415646]|Glycogen storage disease II, adult form [RCV000004242]|Glycogen storage disease due to acid maltase deficiency, late-onset [RCV002225068]|Glycogen storage disease, type II [RCV000055770]|Glycogen storage disease, type IV [RCV002288463]|Inborn genetic diseases [RCV000210721]|Myopathy [RCV000626740]|not provided [RCV000153285] Chr17:80104542 [GRCh38]
Chr17:78078341 [GRCh37]
Chr17:17q25.3
pathogenic|conflicting interpretations of pathogenicity
GAA, IVS1AS, G-C, -1 single nucleotide variant Glycogen storage disease, type II [RCV000004252] Chr17:17q25.2-q25.3 pathogenic
NM_000152.5(GAA):c.1326+8C>A single nucleotide variant Glycogen storage disease, type II [RCV000542190] Chr17:80108836 [GRCh38]
Chr17:78082635 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) single nucleotide variant Glycogen storage disease, type II [RCV000544027] Chr17:80107601 [GRCh38]
Chr17:78081400 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.270C>T (p.Phe90=) single nucleotide variant Cardiovascular phenotype [RCV002431532]|Glycogen storage disease, type II [RCV000552970] Chr17:80104856 [GRCh38]
Chr17:78078655 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) single nucleotide variant Glycogen storage disease, type II [RCV000554449]|not provided [RCV003139752] Chr17:80118320 [GRCh38]
Chr17:78092119 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.618C>T (p.Ser206=) single nucleotide variant Cardiovascular phenotype [RCV002358437]|Glycogen storage disease, type II [RCV000556817] Chr17:80105820 [GRCh38]
Chr17:78079619 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.116C>T (p.Pro39Leu) single nucleotide variant not provided [RCV000729535] Chr17:80104702 [GRCh38]
Chr17:78078501 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) single nucleotide variant Glycogen storage disease, type II [RCV001205738]|not provided [RCV000728538] Chr17:80112625 [GRCh38]
Chr17:78086424 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) single nucleotide variant Cardiovascular phenotype [RCV002431530]|Glycogen storage disease, type II [RCV000543367] Chr17:80116993 [GRCh38]
Chr17:78090792 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) single nucleotide variant Glycogen storage disease, type II [RCV000549391] Chr17:80105884 [GRCh38]
Chr17:78079683 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.183C>T (p.Ser61=) single nucleotide variant Glycogen storage disease, type II [RCV000542895] Chr17:80104769 [GRCh38]
Chr17:78078568 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) single nucleotide variant Glycogen storage disease, type II [RCV000542949] Chr17:80107622 [GRCh38]
Chr17:78081421 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) single nucleotide variant Glycogen storage disease, type II [RCV000553278]|not provided [RCV001557806]|not specified [RCV001821499] Chr17:80104851 [GRCh38]
Chr17:78078650 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) single nucleotide variant Glycogen storage disease, type II [RCV000553472]|not provided [RCV003144320] Chr17:80107803 [GRCh38]
Chr17:78081602 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1095A>C (p.Pro365=) single nucleotide variant not specified [RCV000602887] Chr17:80108508 [GRCh38]
Chr17:78082307 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1310G>A (p.Arg437His) single nucleotide variant Glycogen storage disease, type II [RCV000553754] Chr17:80108812 [GRCh38]
Chr17:78082611 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) single nucleotide variant Glycogen storage disease, type II [RCV001834682]|not provided [RCV000519755] Chr17:80110953 [GRCh38]
Chr17:78084752 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NC_000017.11:g.(?_80118193)_(80118357_?)del deletion Glycogen storage disease, type II [RCV000544456] Chr17:80118193..80118357 [GRCh38]
Chr17:78091992..78092156 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) single nucleotide variant Glycogen storage disease, type II [RCV000559302] Chr17:80118782 [GRCh38]
Chr17:78092581 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1437+8G>A single nucleotide variant Glycogen storage disease, type II [RCV000559894]|not specified [RCV000780266] Chr17:80110063 [GRCh38]
Chr17:78083862 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.-32-18C>G single nucleotide variant Glycogen storage disease type II, infantile [RCV000758163] Chr17:80104537 [GRCh38]
Chr17:78078336 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) single nucleotide variant Glycogen storage disease, type II [RCV000543300]|not provided [RCV003144317] Chr17:80117023 [GRCh38]
Chr17:78090822 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) single nucleotide variant Acid alpha-glucosidase, allele 2 [RCV000004235]|Cardiovascular phenotype [RCV002426487]|Glycogen storage disease, type II [RCV000531082]|not provided [RCV000078177]|not specified [RCV000117106] Chr17:80104857 [GRCh38]
Chr17:78078656 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|other|not provided
NM_000152.5(GAA):c.953T>C (p.Met318Thr) single nucleotide variant Glycogen storage disease type II, infantile [RCV000004236]|Glycogen storage disease, type II [RCV000780268]|not provided [RCV000727662] Chr17:80107894 [GRCh38]
Chr17:78081693 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) single nucleotide variant Glycogen storage disease type II, infantile [RCV000004237]|Glycogen storage disease, type II [RCV000169465]|not provided [RCV003137489] Chr17:80110950 [GRCh38]
Chr17:78084749 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) single nucleotide variant Glycogen storage disease II, adult form [RCV000004239]|Glycogen storage disease, type II [RCV000169045]|not provided [RCV001569366] Chr17:80113350 [GRCh38]
Chr17:78087149 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) single nucleotide variant Glycogen storage disease type II, infantile [RCV000004240]|Glycogen storage disease, type II [RCV000795023] Chr17:80107837 [GRCh38]
Chr17:78081636 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1585_1586delinsGT (p.Ser529Val) indel Glycogen storage disease II, adult form [RCV000004241] Chr17:80110974..80110975 [GRCh38]
Chr17:78084773..78084774 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) deletion Glycogen storage disease type II, infantile [RCV000004243]|Glycogen storage disease, type II [RCV001376754] Chr17:80118711..80118713 [GRCh38]
Chr17:78092510..78092512 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) single nucleotide variant Glycogen storage disease type II, infantile [RCV000004244]|Glycogen storage disease, type II [RCV000055768]|not provided [RCV001785448] Chr17:80112922 [GRCh38]
Chr17:78086721 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) single nucleotide variant Acid alpha-glucosidase, allele 4 [RCV000004245]|Cardiovascular phenotype [RCV002415397]|Glycogen storage disease, type II [RCV000383641]|not provided [RCV000675237]|not specified [RCV000078165] Chr17:80113242 [GRCh38]
Chr17:78087041 [GRCh37]
Chr17:17q25.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|other
NM_000152.5(GAA):c.2483_2646+1del deletion Glycogen storage disease, type II [RCV000004246] Chr17:80118193..80118357 [GRCh38]
Chr17:78091992..78092156 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) single nucleotide variant Glycogen storage disease II, adult form [RCV000004247]|Glycogen storage disease, type II [RCV001174962]|not provided [RCV001785449] Chr17:80111023 [GRCh38]
Chr17:78084822 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.525del (p.Glu176fs) deletion Glycogen storage disease, type II [RCV000004248]|not provided [RCV000078181] Chr17:80105111 [GRCh38]
Chr17:78078910 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) single nucleotide variant Glycogen storage disease, type II [RCV000004249]|not provided [RCV000255539] Chr17:80118271 [GRCh38]
Chr17:78092070 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.710C>T (p.Ala237Val) single nucleotide variant Glycogen storage disease II, adult form [RCV000004250]|Glycogen storage disease, type II [RCV000664615]|not provided [RCV003329226]|not specified [RCV002265547] Chr17:80107574 [GRCh38]
Chr17:78081373 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) single nucleotide variant Glycogen storage disease II, adult form [RCV000004251]|Glycogen storage disease, type II [RCV000578430]|not provided [RCV000728952] Chr17:80107818 [GRCh38]
Chr17:78081617 [GRCh37]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_000152.3(GAA):c.1081C>T (p.Pro361Ser) single nucleotide variant Malignant melanoma [RCV000071703] Chr17:80108494 [GRCh38]
Chr17:78082293 [GRCh37]
Chr17:75696888 [NCBI36]
Chr17:17q25.3
not provided
NM_000152.5(GAA):c.858+8G>A single nucleotide variant Glycogen storage disease, type II [RCV001085423]|not provided [RCV000675222]|not specified [RCV000117108] Chr17:80107730 [GRCh38]
Chr17:78081529 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.*3G>A single nucleotide variant Glycogen storage disease, type II [RCV000388157]|not provided [RCV000675251]|not specified [RCV000078153] Chr17:80119334 [GRCh38]
Chr17:78093133 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1075+13C>T single nucleotide variant Glycogen storage disease, type II [RCV001128337]|not provided [RCV000675225]|not specified [RCV000078154] Chr17:80108422 [GRCh38]
Chr17:78082221 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000152.5(GAA):c.1203G>A (p.Gln401=) single nucleotide variant Cardiovascular phenotype [RCV002345390]|Glycogen storage disease, type II [RCV000344845]|not provided [RCV000675226]|not specified [RCV000078155] Chr17:80108705 [GRCh38]
Chr17:78082504 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1327-18A>G single nucleotide variant Glycogen storage disease, type II [RCV000606017]|not provided [RCV000675227]|not specified [RCV000078156] Chr17:80109927 [GRCh38]
Chr17:78083726 [GRCh37]
Chr17:17q25.3
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) single nucleotide variant Cardiovascular phenotype [RCV002381395]|Glycogen storage disease, type II [RCV000311878]|not provided [RCV000675228]|not specified [RCV000078157] Chr17:80109992 [GRCh38]
Chr17:78083791 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1438-19G>C single nucleotide variant Glycogen storage disease, type II [RCV000610914]|not provided [RCV000675229]|not specified [RCV000078158] Chr17:80110708 [GRCh38]
Chr17:78084507 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) single nucleotide variant Glycogen storage disease, type II [RCV000173646]|not provided [RCV000790665] Chr17:80110754 [GRCh38]
Chr17:78084553 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1581G>A (p.Arg527=) single nucleotide variant Cardiovascular phenotype [RCV002399467]|Glycogen storage disease, type II [RCV000301295]|not provided [RCV000675230]|not specified [RCV000078160] Chr17:80110970 [GRCh38]
Chr17:78084769 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) single nucleotide variant Cardiovascular phenotype [RCV003298132]|Glycogen storage disease, type II [RCV000353996]|not provided [RCV000431108]|not specified [RCV000078161] Chr17:80112072 [GRCh38]
Chr17:78085871 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|other
NM_000152.5(GAA):c.1754+12G>A single nucleotide variant Glycogen storage disease, type II [RCV000261416]|not provided [RCV000675231]|not specified [RCV000078162] Chr17:80112112 [GRCh38]
Chr17:78085911 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.2012T>G (p.Met671Arg) single nucleotide variant not provided [RCV000174660] Chr17:80112999 [GRCh38]
Chr17:78086798 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2040+20A>G single nucleotide variant Glycogen storage disease, type II [RCV000605515]|not provided [RCV000675236]|not specified [RCV000078164] Chr17:80113047 [GRCh38]
Chr17:78086846 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) duplication Glycogen storage disease, type II [RCV001383432]|not provided [RCV000174830] Chr17:80113240..80113241 [GRCh38]
Chr17:78087039..78087040 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) single nucleotide variant Glycogen storage disease, type II [RCV000792061]|not provided [RCV000174831] Chr17:80113282 [GRCh38]
Chr17:78087081 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2133A>G (p.Thr711=) single nucleotide variant Cardiovascular phenotype [RCV002415574]|Glycogen storage disease, type II [RCV000292038]|not provided [RCV000675238]|not specified [RCV000078168] Chr17:80113310 [GRCh38]
Chr17:78087109 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2331+20G>A single nucleotide variant Glycogen storage disease, type II [RCV000600128]|not provided [RCV000675242]|not specified [RCV000078169] Chr17:80117129 [GRCh38]
Chr17:78090928 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2332-12A>T single nucleotide variant Glycogen storage disease, type II [RCV001248964]|not provided [RCV000723547]|not specified [RCV000244544] Chr17:80117588 [GRCh38]
Chr17:78091387 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) single nucleotide variant Cardiovascular phenotype [RCV002444547]|Glycogen storage disease, type II [RCV000336875]|not provided [RCV000675244]|not specified [RCV000078171] Chr17:80117606 [GRCh38]
Chr17:78091405 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) single nucleotide variant Cardiovascular phenotype [RCV002453395]|Glycogen storage disease, type II [RCV000296830]|not provided [RCV000675246]|not specified [RCV000078172] Chr17:80117714 [GRCh38]
Chr17:78091513 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000152.5(GAA):c.2481+16G>A single nucleotide variant Glycogen storage disease, type II [RCV001249017]|not provided [RCV000675247]|not specified [RCV000078173] Chr17:80117765 [GRCh38]
Chr17:78091564 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) single nucleotide variant Glycogen storage disease, type II [RCV001200861]|not provided [RCV000175263] Chr17:80118223 [GRCh38]
Chr17:78092022 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2544del (p.Lys849fs) deletion Glycogen storage disease, type II [RCV001249089]|not provided [RCV000175264] Chr17:80118254 [GRCh38]
Chr17:78092053 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2553G>A (p.Gly851=) single nucleotide variant Cardiovascular phenotype [RCV002453396]|Glycogen storage disease, type II [RCV000399277]|not provided [RCV000675248]|not specified [RCV000078176] Chr17:80118264 [GRCh38]
Chr17:78092063 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) single nucleotide variant Cardiovascular phenotype [RCV002433584]|Glycogen storage disease, type II [RCV000308857]|not provided [RCV000675250]|not specified [RCV000078178] Chr17:80118786 [GRCh38]
Chr17:78092585 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) single nucleotide variant Glycogen storage disease, type II [RCV000811478]|not provided [RCV000078179] Chr17:80104893 [GRCh38]
Chr17:78078692 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.324T>C (p.Cys108=) single nucleotide variant Cardiovascular phenotype [RCV002321569]|Glycogen storage disease, type II [RCV000284275]|Primary ciliary dyskinesia [RCV000299885]|not provided [RCV000587169]|not specified [RCV000078180] Chr17:80104910 [GRCh38]
Chr17:78078709 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.547-4C>G single nucleotide variant Cardiovascular phenotype [RCV002345391]|Glycogen storage disease, type II [RCV000369731]|not provided [RCV000675216]|not specified [RCV000078182] Chr17:80105745 [GRCh38]
Chr17:78079544 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.596A>G (p.His199Arg) single nucleotide variant Cardiovascular phenotype [RCV002354274]|Glycogen storage disease, type II [RCV000275148]|not provided [RCV000675217]|not specified [RCV000078183] Chr17:80105798 [GRCh38]
Chr17:78079597 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.642C>T (p.Ser214=) single nucleotide variant Cardiovascular phenotype [RCV002362722]|Glycogen storage disease, type II [RCV000330247]|not provided [RCV000586465]|not specified [RCV000078184] Chr17:80105844 [GRCh38]
Chr17:78079643 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.668G>A (p.Arg223His) single nucleotide variant Cardiovascular phenotype [RCV002362723]|Glycogen storage disease, type II [RCV000169616]|not provided [RCV000675218]|not specified [RCV000078185] Chr17:80105870 [GRCh38]
Chr17:78079669 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC insertion Glycogen storage disease, type II [RCV000578107]|not provided [RCV000588321]|not specified [RCV000078186] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.921A>T (p.Ala307=) single nucleotide variant Cardiovascular phenotype [RCV002371924]|Glycogen storage disease, type II [RCV000376333]|not provided [RCV000675223]|not specified [RCV000078187] Chr17:80107862 [GRCh38]
Chr17:78081661 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.955+12G>A single nucleotide variant Glycogen storage disease, type II [RCV000284185]|not provided [RCV000675224]|not specified [RCV000078188] Chr17:80107908 [GRCh38]
Chr17:78081707 [GRCh37]
Chr17:17q25.3
benign|conflicting interpretations of pathogenicity
NM_017950.3(CCDC40):c.3059A>C (p.Glu1020Ala) single nucleotide variant Malignant melanoma [RCV000071702] Chr17:80097282 [GRCh38]
Chr17:78071081 [GRCh37]
Chr17:75685676 [NCBI36]
Chr17:17q25.3
not provided
NM_000152.5(GAA):c.447G>A (p.Thr149=) single nucleotide variant Cardiovascular phenotype [RCV002326815]|Glycogen storage disease, type II [RCV000402346]|not provided [RCV001573616]|not specified [RCV000117107] Chr17:80105033 [GRCh38]
Chr17:78078832 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.-284G>A single nucleotide variant not specified [RCV000603283] Chr17:80101639 [GRCh38]
Chr17:78075438 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) single nucleotide variant Glycogen storage disease, type II [RCV001242470]|not provided [RCV000174449] Chr17:80112625 [GRCh38]
Chr17:78086424 [GRCh37]
Chr17:17q25.3
pathogenic
Single allele duplication Glycogen storage disease, type II [RCV000174830] Chr17:78087046..78087047 [GRCh37] pathogenic
NM_000152.5(GAA):c.955+5G>A single nucleotide variant Glycogen storage disease, type II [RCV001304641] Chr17:80107901 [GRCh38]
Chr17:78081700 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg) single nucleotide variant Glycogen storage disease, type II [RCV001889212] Chr17:80117678 [GRCh38]
Chr17:78091477 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) single nucleotide variant Glycogen storage disease, type II [RCV000545994]|not provided [RCV001704853]|not specified [RCV000178719] Chr17:80107858 [GRCh38]
Chr17:78081657 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) deletion Glycogen storage disease, type II [RCV001295051] Chr17:80110006..80110023 [GRCh38]
Chr17:78083805..78083822 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2122C>G (p.His708Asp) single nucleotide variant Cardiovascular phenotype [RCV002418935]|Glycogen storage disease, type II [RCV001307827]|not provided [RCV001760367] Chr17:80113299 [GRCh38]
Chr17:78087098 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro) single nucleotide variant Glycogen storage disease, type II [RCV001307235] Chr17:80108730 [GRCh38]
Chr17:78082529 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78090757)_(78093140_?)dup duplication Glycogen storage disease, type II [RCV001307812] Chr17:78090757..78093140 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2637G>A (p.Leu879=) single nucleotide variant Glycogen storage disease, type II [RCV001297450] Chr17:80118348 [GRCh38]
Chr17:78092147 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser) single nucleotide variant Glycogen storage disease, type II [RCV001299058] Chr17:80108373 [GRCh38]
Chr17:78082172 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1889-7C>G single nucleotide variant Glycogen storage disease, type II [RCV001299107] Chr17:80112869 [GRCh38]
Chr17:78086668 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys) single nucleotide variant Glycogen storage disease, type II [RCV001307146] Chr17:80108542 [GRCh38]
Chr17:78082341 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) single nucleotide variant Glycogen storage disease, type II [RCV002516609]|not provided [RCV000173980] Chr17:80110972 [GRCh38]
Chr17:78084771 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1722C>T (p.Leu574=) single nucleotide variant Cardiovascular phenotype [RCV003298215]|Glycogen storage disease, type II [RCV001083922]|not provided [RCV000174222] Chr17:80112068 [GRCh38]
Chr17:78085867 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.858+6GCGGCGG[3] microsatellite Glycogen storage disease, type II [RCV001429143]|not specified [RCV000153286] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) single nucleotide variant Glycogen storage disease, type II [RCV000540247]|not provided [RCV000657136] Chr17:80113333 [GRCh38]
Chr17:78087132 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2157G>A (p.Ala719=) single nucleotide variant Cardiovascular phenotype [RCV002426832]|Glycogen storage disease, type II [RCV001087616]|not provided [RCV000724450]|not specified [RCV002265659] Chr17:80113334 [GRCh38]
Chr17:78087133 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1889-5C>T single nucleotide variant Glycogen storage disease, type II [RCV001128431]|not provided [RCV000174661] Chr17:80112871 [GRCh38]
Chr17:78086670 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2415G>A (p.Val805=) single nucleotide variant Cardiovascular phenotype [RCV002453612]|Glycogen storage disease, type II [RCV000390395]|not provided [RCV000724845]|not specified [RCV002222424] Chr17:80117683 [GRCh38]
Chr17:78091482 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2739C>G (p.Pro913=) single nucleotide variant Cardiovascular phenotype [RCV002433767]|Glycogen storage disease, type II [RCV001082677]|not provided [RCV000175390] Chr17:80118745 [GRCh38]
Chr17:78092544 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_000152.5(GAA):c.858+30T>C single nucleotide variant Glycogen storage disease, type II [RCV001537765]|not provided [RCV001640191]|not specified [RCV000153287] Chr17:80107752 [GRCh38]
Chr17:78081551 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2400C>T (p.Ser800=) single nucleotide variant Cardiovascular phenotype [RCV002444632]|Glycogen storage disease, type II [RCV001079574]|not provided [RCV000675245]|not specified [RCV000153291] Chr17:80117668 [GRCh38]
Chr17:78091467 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) single nucleotide variant Glycogen storage disease, type II [RCV000156939]|not provided [RCV001579766] Chr17:80108338 [GRCh38]
Chr17:78082137 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2078dup (p.Ala694fs) duplication Glycogen storage disease, type II [RCV000156940]|not provided [RCV000733261] Chr17:80113254..80113255 [GRCh38]
Chr17:78087053..78087054 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.271_272delinsAG (p.Asp91Ser) indel not provided [RCV000175528] Chr17:80104857..80104858 [GRCh38]
Chr17:78078656..78078657 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.318C>T (p.Arg106=) single nucleotide variant Cardiovascular phenotype [RCV002321692]|Glycogen storage disease, type II [RCV001248965]|not provided [RCV000724466] Chr17:80104904 [GRCh38]
Chr17:78078703 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) single nucleotide variant Glycogen storage disease, type II [RCV000156941]|not provided [RCV001310382] Chr17:80107837 [GRCh38]
Chr17:78081636 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) single nucleotide variant Glycogen storage disease, type II [RCV001326695]|not provided [RCV000153288] Chr17:80108721 [GRCh38]
Chr17:78082520 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) single nucleotide variant Glycogen storage disease, type II [RCV000591376]|not provided [RCV000723464] Chr17:80112664 [GRCh38]
Chr17:78086463 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2380C>G (p.Arg794Gly) single nucleotide variant not provided [RCV000153290] Chr17:80117648 [GRCh38]
Chr17:78091447 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) single nucleotide variant Glycogen storage disease [RCV000825562]|Glycogen storage disease, type II [RCV000283919]|not provided [RCV000254988] Chr17:80117016 [GRCh38]
Chr17:78090815 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) single nucleotide variant Glycogen storage disease, type II [RCV000169030]|not provided [RCV000483035] Chr17:80112920 [GRCh38]
Chr17:78086719 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) single nucleotide variant Glycogen storage disease, type II [RCV000169099]|not provided [RCV000725325] Chr17:80113001 [GRCh38]
Chr17:78086800 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1A>G (p.Met1Val) single nucleotide variant Glycogen storage disease, type II [RCV000169114] Chr17:80104587 [GRCh38]
Chr17:78078386 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) single nucleotide variant Glycogen storage disease, type II [RCV000169115]|not provided [RCV001781521] Chr17:80112666 [GRCh38]
Chr17:78086465 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) single nucleotide variant Glycogen storage disease, type II [RCV000169127]|not provided [RCV000723463] Chr17:80107866 [GRCh38]
Chr17:78081665 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) single nucleotide variant Glycogen storage disease, type II [RCV000169139]|not provided [RCV000727645] Chr17:80107648 [GRCh38]
Chr17:78081447 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.569G>A (p.Arg190His) single nucleotide variant Glycogen storage disease, type II [RCV000169143]|not provided [RCV003144146] Chr17:80105771 [GRCh38]
Chr17:78079570 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1051del (p.Val351fs) deletion Glycogen storage disease, type II [RCV000169190]|not provided [RCV000725759] Chr17:80108384 [GRCh38]
Chr17:78082183 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) single nucleotide variant Glycogen storage disease, type II [RCV000169210] Chr17:80108569 [GRCh38]
Chr17:78082368 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) deletion Glycogen storage disease, type II [RCV000169228]|not provided [RCV001781522] Chr17:80110029..80110032 [GRCh38]
Chr17:78083828..78083831 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) indel Glycogen storage disease, type II [RCV000169234]|not provided [RCV000725968] Chr17:80107630..80107649 [GRCh38]
Chr17:78081429..78081448 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) single nucleotide variant Glycogen storage disease, type II [RCV000169262]|not provided [RCV001781523] Chr17:80112929 [GRCh38]
Chr17:78086728 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) single nucleotide variant Glycogen storage disease, type II [RCV000169263] Chr17:80104758 [GRCh38]
Chr17:78078557 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2140del (p.His714fs) deletion Glycogen storage disease, type II [RCV000169264]|not provided [RCV000725052] Chr17:80113316 [GRCh38]
Chr17:78087115 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2646+2T>A single nucleotide variant Glycogen storage disease, type II [RCV000169291]|not provided [RCV001781525] Chr17:80118359 [GRCh38]
Chr17:78092158 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) deletion Glycogen storage disease, type II [RCV000169308]|not provided [RCV000726059] Chr17:80112650 [GRCh38]
Chr17:78086449 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) single nucleotide variant Glycogen storage disease, type II [RCV000169376] Chr17:80104929 [GRCh38]
Chr17:78078728 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) microsatellite Glycogen storage disease, type II [RCV000169390]|not provided [RCV001781527] Chr17:80113008..80113010 [GRCh38]
Chr17:78086807..78086809 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) single nucleotide variant Glycogen storage disease, type II [RCV000169391]|not provided [RCV002223801] Chr17:80110730 [GRCh38]
Chr17:78084529 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) single nucleotide variant Glycogen storage disease, type II [RCV000169394]|not provided [RCV000723528] Chr17:80118319 [GRCh38]
Chr17:78092118 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1933G>C (p.Asp645His) single nucleotide variant Glycogen storage disease, type II [RCV000169400] Chr17:80112920 [GRCh38]
Chr17:78086719 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) single nucleotide variant Glycogen storage disease, type II [RCV000169414]|not provided [RCV000723388] Chr17:80110837 [GRCh38]
Chr17:78084636 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) single nucleotide variant Glycogen storage disease, type II [RCV000169431]|not provided [RCV001090261] Chr17:80113281 [GRCh38]
Chr17:78087080 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) indel Glycogen storage disease, type II [RCV000169433]|not provided [RCV000725812] Chr17:80108541..80108542 [GRCh38]
Chr17:78082340..78082341 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.525_526del (p.Asn177fs) deletion Glycogen storage disease, type II [RCV000169454] Chr17:80105111..80105112 [GRCh38]
Chr17:78078910..78078911 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.365del (p.Met122fs) deletion Glycogen storage disease, type II [RCV000169456] Chr17:80104951 [GRCh38]
Chr17:78078750 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) single nucleotide variant Glycogen storage disease, type II [RCV000169462]|not provided [RCV000481943] Chr17:80105857 [GRCh38]
Chr17:78079656 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) single nucleotide variant Glycogen storage disease, type II [RCV000169488]|not provided [RCV001781528] Chr17:80108811 [GRCh38]
Chr17:78082610 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) single nucleotide variant Glycogen storage disease, type II [RCV000169538]|not provided [RCV000726790] Chr17:80110945 [GRCh38]
Chr17:78084744 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) duplication Glycogen storage disease, type II [RCV000169565]|not provided [RCV000727554] Chr17:80112648..80112649 [GRCh38]
Chr17:78086447..78086448 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1979G>A (p.Arg660His) single nucleotide variant Glycogen storage disease, type II [RCV000169600]|not provided [RCV000256037] Chr17:80112966 [GRCh38]
Chr17:78086765 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1438-1G>C single nucleotide variant Glycogen storage disease, type II [RCV000169615]|not provided [RCV000727411] Chr17:80110726 [GRCh38]
Chr17:78084525 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) single nucleotide variant Glycogen storage disease, type II [RCV000169620]|not provided [RCV000272542] Chr17:80105872 [GRCh38]
Chr17:78079671 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) single nucleotide variant Glycogen storage disease, type II [RCV000336661]|not provided [RCV000168657] Chr17:80104597 [GRCh38]
Chr17:78078396 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.676C>G (p.Leu226Val) single nucleotide variant Glycogen storage disease, type II [RCV001000493]|Ventricular fibrillation [RCV000852728]|not provided [RCV001721094]|not specified [RCV000168658] Chr17:80105878 [GRCh38]
Chr17:78079677 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.852G>A (p.Ala284=) single nucleotide variant Cardiovascular phenotype [RCV002444675]|Glycogen storage disease, type II [RCV000999779]|not provided [RCV000675221]|not specified [RCV000168659] Chr17:80107716 [GRCh38]
Chr17:78081515 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.915G>A (p.Gly305=) single nucleotide variant Cardiovascular phenotype [RCV002372058]|Glycogen storage disease, type II [RCV001079201]|not provided [RCV000723389] Chr17:80107856 [GRCh38]
Chr17:78081655 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1069G>T (p.Val357Phe) single nucleotide variant Cardiovascular phenotype [RCV002408727]|Glycogen storage disease, type II [RCV001042621] Chr17:80108403 [GRCh38]
Chr17:78082202 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) single nucleotide variant Glycogen storage disease, type II [RCV000631097]|not provided [RCV000493868]|not specified [RCV002469040] Chr17:80109993 [GRCh38]
Chr17:78083792 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.4(GAA):c.1495T>A (p.Trp499Arg) single nucleotide variant not specified [RCV000168663] Chr17:80110784 [GRCh38]
Chr17:78084583 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2040+19_2040+20inv inversion Glycogen storage disease, type II [RCV001850384]|not specified [RCV000168664] Chr17:80113046..80113047 [GRCh38]
Chr17:78086845..78086846 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) single nucleotide variant Glycogen storage disease, type II [RCV000526969]|not provided [RCV000168665] Chr17:80113269 [GRCh38]
Chr17:78087068 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) single nucleotide variant Glycogen storage disease, type II [RCV000626060]|not provided [RCV001781520] Chr17:80117015 [GRCh38]
Chr17:78090814 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) single nucleotide variant Glycogen storage disease, type II [RCV001226590] Chr17:80117727 [GRCh38]
Chr17:78091526 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) single nucleotide variant Glycogen storage disease, type II [RCV001241634] Chr17:80119317 [GRCh38]
Chr17:78093116 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1437G>A (p.Lys479=) single nucleotide variant Glycogen storage disease, type II [RCV000186551] Chr17:80110055 [GRCh38]
Chr17:78083854 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1075+4G>A single nucleotide variant Glycogen storage disease, type II [RCV000812980]|not provided [RCV000179260] Chr17:80108413 [GRCh38]
Chr17:78082212 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) single nucleotide variant Glycogen storage disease, type II [RCV000557680]|not provided [RCV000179719] Chr17:80108560 [GRCh38]
Chr17:78082359 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1194+3G>C single nucleotide variant Glycogen storage disease, type II [RCV000631083]|not provided [RCV000179720]|not specified [RCV002282005] Chr17:80108610 [GRCh38]
Chr17:78082409 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.688G>A (p.Val230Met) single nucleotide variant Cardiovascular phenotype [RCV002362904]|Glycogen storage disease, type II [RCV000542661]|not provided [RCV000724048]|not specified [RCV000194005] Chr17:80105890 [GRCh38]
Chr17:78079689 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.615G>A (p.Pro205=) single nucleotide variant Cardiovascular phenotype [RCV002354454]|Glycogen storage disease, type II [RCV001081410]|not provided [RCV000176996] Chr17:80105817 [GRCh38]
Chr17:78079616 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) single nucleotide variant Glycogen storage disease, type II [RCV000501120]|not provided [RCV000302789] Chr17:80117015 [GRCh38]
Chr17:78090814 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1440A>G (p.Val480=) single nucleotide variant Glycogen storage disease, type II [RCV001078646]|not provided [RCV000841937] Chr17:80110729 [GRCh38]
Chr17:78084528 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) single nucleotide variant Glycogen storage disease, type II [RCV000543516] Chr17:80105011 [GRCh38]
Chr17:78078810 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.3(chr17:78041640-78227014)x3 copy number gain See cases [RCV000240202] Chr17:78041640..78227014 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) single nucleotide variant Glycogen storage disease, type II [RCV000381512]|not provided [RCV000288533] Chr17:80112001 [GRCh38]
Chr17:78085800 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.471C>T (p.Pro157=) single nucleotide variant Glycogen storage disease, type II [RCV001494066] Chr17:80105057 [GRCh38]
Chr17:78078856 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) single nucleotide variant Glycogen storage disease, type II [RCV000550169]|not provided [RCV000732024] Chr17:80107715 [GRCh38]
Chr17:78081514 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.909C>T (p.Asp303=) single nucleotide variant Cardiovascular phenotype [RCV002448617]|Glycogen storage disease, type II [RCV000552101] Chr17:80107850 [GRCh38]
Chr17:78081649 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) single nucleotide variant Glycogen storage disease, type II [RCV000558425]|not provided [RCV003133307] Chr17:80118220 [GRCh38]
Chr17:78092019 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2430C>T (p.Pro810=) single nucleotide variant Cardiovascular phenotype [RCV003302778]|Glycogen storage disease, type II [RCV000552424]|not specified [RCV000613218] Chr17:80117698 [GRCh38]
Chr17:78091497 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1035A>C (p.Pro345=) single nucleotide variant Glycogen storage disease, type II [RCV000559130] Chr17:80108369 [GRCh38]
Chr17:78082168 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2218G>A (p.Val740Met) single nucleotide variant Cardiovascular phenotype [RCV002431531]|Glycogen storage disease, type II [RCV000558189] Chr17:80116996 [GRCh38]
Chr17:78090795 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.747C>T (p.Ser249=) single nucleotide variant Glycogen storage disease, type II [RCV001394870] Chr17:80107611 [GRCh38]
Chr17:78081410 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) single nucleotide variant Glycogen storage disease, type II [RCV000797884]|Inborn genetic diseases [RCV000210587] Chr17:80107718 [GRCh38]
Chr17:78081517 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) single nucleotide variant Glycogen storage disease, type II [RCV000543914]|not provided [RCV003139751] Chr17:80117735 [GRCh38]
Chr17:78091534 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.725C>T (p.Ala242Val) single nucleotide variant Glycogen storage disease, type II [RCV000555802]|not provided [RCV000732877]|not specified [RCV000770759] Chr17:80107589 [GRCh38]
Chr17:78081388 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) single nucleotide variant Glycogen storage disease, type II [RCV000669430] Chr17:80104938 [GRCh38]
Chr17:78078737 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1326+2T>C single nucleotide variant Glycogen storage disease, type II [RCV000670606] Chr17:80108830 [GRCh38]
Chr17:78082629 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) single nucleotide variant GAA-related condition [RCV003419922]|Glycogen storage disease, type II [RCV000550745] Chr17:80108766 [GRCh38]
Chr17:78082565 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) single nucleotide variant Glycogen storage disease, type II [RCV000555356] Chr17:80104941 [GRCh38]
Chr17:78078740 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.372G>A (p.Gln124=) single nucleotide variant Cardiovascular phenotype [RCV002346407]|Glycogen storage disease, type II [RCV002085164] Chr17:80104958 [GRCh38]
Chr17:78078757 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) single nucleotide variant Glycogen storage disease, type II [RCV000542072]|Inborn genetic diseases [RCV002519855]|not provided [RCV000725668]|not specified [RCV000238987] Chr17:80117685 [GRCh38]
Chr17:78091484 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.922C>T (p.His308Tyr) single nucleotide variant Cardiovascular phenotype [RCV002377004]|Glycogen storage disease, type II [RCV000560890]|See cases [RCV002252158]|not provided [RCV001584243] Chr17:80107863 [GRCh38]
Chr17:78081662 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.437del (p.Met146fs) deletion Glycogen storage disease, type II [RCV000669662]|not provided [RCV001785697] Chr17:80105023 [GRCh38]
Chr17:78078822 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.858+15G>A single nucleotide variant Glycogen storage disease, type II [RCV002064138]|not specified [RCV000601202] Chr17:80107737 [GRCh38]
Chr17:78081536 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1552-13G>A single nucleotide variant Glycogen storage disease, type II [RCV000392826]|not provided [RCV000786312]|not specified [RCV000246280] Chr17:80110928 [GRCh38]
Chr17:78084727 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.876C>T (p.Tyr292=) single nucleotide variant Cardiovascular phenotype [RCV003298324]|Glycogen storage disease, type II [RCV000884808]|not provided [RCV003144176]|not specified [RCV000248640] Chr17:80107817 [GRCh38]
Chr17:78081616 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1920T>G (p.Pro640=) single nucleotide variant Cardiovascular phenotype [RCV002411111]|Glycogen storage disease, type II [RCV001079385]|not provided [RCV000675235]|not specified [RCV000243841] Chr17:80112907 [GRCh38]
Chr17:78086706 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.547-39T>G single nucleotide variant Glycogen storage disease, type II [RCV001249010]|not provided [RCV001651108]|not specified [RCV000246553] Chr17:80105710 [GRCh38]
Chr17:78079509 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.693-49C>T single nucleotide variant Glycogen storage disease, type II [RCV001527129]|not provided [RCV000835677]|not specified [RCV000253814] Chr17:80107508 [GRCh38]
Chr17:78081307 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1830C>T (p.Ala610=) single nucleotide variant Cardiovascular phenotype [RCV002411110]|Glycogen storage disease, type II [RCV000532577]|not provided [RCV001090260]|not specified [RCV000246872] Chr17:80112653 [GRCh38]
Chr17:78086452 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1888+21G>A single nucleotide variant Glycogen storage disease, type II [RCV000671177]|not provided [RCV000675234]|not specified [RCV000251838] Chr17:80112732 [GRCh38]
Chr17:78086531 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2331+24T>C single nucleotide variant Glycogen storage disease, type II [RCV001527105]|not provided [RCV000675243]|not specified [RCV000254178] Chr17:80117133 [GRCh38]
Chr17:78090932 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1551+49C>A single nucleotide variant Glycogen storage disease, type II [RCV001527134]|not provided [RCV001610560]|not specified [RCV000254239] Chr17:80110889 [GRCh38]
Chr17:78084688 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.658G>T (p.Val220Leu) single nucleotide variant Cardiovascular phenotype [RCV002374412]|Glycogen storage disease, type II [RCV000631081]|not specified [RCV000244709] Chr17:80105860 [GRCh38]
Chr17:78079659 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1599C>T (p.Cys533=) single nucleotide variant Cardiovascular phenotype [RCV002401952]|Glycogen storage disease, type II [RCV001088621]|not provided [RCV000725491]|not specified [RCV000242369] Chr17:80110988 [GRCh38]
Chr17:78084787 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1636+43G>T single nucleotide variant Glycogen storage disease, type II [RCV001537766]|not specified [RCV000247374] Chr17:80111068 [GRCh38]
Chr17:78084867 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.859-18G>A single nucleotide variant Glycogen storage disease, type II [RCV002057317]|not specified [RCV000245317] Chr17:80107782 [GRCh38]
Chr17:78081581 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.600C>T (p.Val200=) single nucleotide variant Cardiovascular phenotype [RCV002356340]|Glycogen storage disease, type II [RCV001087957]|not provided [RCV000725492]|not specified [RCV000247742] Chr17:80105802 [GRCh38]
Chr17:78079601 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) single nucleotide variant Glycogen storage disease, type II [RCV000525907]|not provided [RCV000724696]|not specified [RCV000250396] Chr17:80104618 [GRCh38]
Chr17:78078417 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2526C>G (p.Ala842=) single nucleotide variant Glycogen storage disease, type II [RCV002055027]|not specified [RCV000250623] Chr17:80118237 [GRCh38]
Chr17:78092036 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) single nucleotide variant Glycogen storage disease, type II [RCV001034275]|not provided [RCV000522173] Chr17:80118677 [GRCh38]
Chr17:78092476 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) single nucleotide variant Cardiovascular phenotype [RCV003165686]|Glycogen storage disease, type II [RCV000305205]|Hypertrophic cardiomyopathy [RCV000852734]|not specified [RCV000245954] Chr17:80118674 [GRCh38]
Chr17:78092473 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) single nucleotide variant Glycogen storage disease, type II [RCV000689295]|not provided [RCV000269526] Chr17:80112651 [GRCh38]
Chr17:78086450 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1434G>A (p.Gly478=) single nucleotide variant Cardiovascular phenotype [RCV003298341]|Glycogen storage disease, type II [RCV001419469]|not provided [RCV000303014] Chr17:80110052 [GRCh38]
Chr17:78083851 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu) single nucleotide variant Glycogen storage disease, type II [RCV001855124]|not provided [RCV000304646] Chr17:80108742 [GRCh38]
Chr17:78082541 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.258C>A (p.Pro86=) single nucleotide variant Glycogen storage disease, type II [RCV001001756]|not provided [RCV000590222]|not specified [RCV000338982] Chr17:80104844 [GRCh38]
Chr17:78078643 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) single nucleotide variant Glycogen storage disease, type II [RCV000537433]|not provided [RCV000372718]|not specified [RCV000780270] Chr17:80108536 [GRCh38]
Chr17:78082335 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1842G>A (p.Thr614=) single nucleotide variant Cardiovascular phenotype [RCV002411175]|Glycogen storage disease, type II [RCV000631085]|not provided [RCV000726353] Chr17:80112665 [GRCh38]
Chr17:78086464 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.83G>T (p.Gly28Val) single nucleotide variant not provided [RCV000304860] Chr17:80104669 [GRCh38]
Chr17:78078468 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) single nucleotide variant Glycogen storage disease, type II [RCV000690653]|not provided [RCV000375865] Chr17:80110996 [GRCh38]
Chr17:78084795 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) single nucleotide variant Cardiovascular phenotype [RCV003165777]|Glycogen storage disease, type II [RCV001850469]|not provided [RCV000376105] Chr17:80117633 [GRCh38]
Chr17:78091432 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.*139dup duplication Glycogen storage disease, type II [RCV000282066]|not provided [RCV001725166] Chr17:80119469..80119470 [GRCh38]
Chr17:78093268..78093269 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.726G>A (p.Ala242=) single nucleotide variant Cardiovascular phenotype [RCV003165742]|Glycogen storage disease, type II [RCV000315968]|not provided [RCV000675220] Chr17:80107590 [GRCh38]
Chr17:78081389 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) single nucleotide variant Glycogen storage disease, type II [RCV000631086]|not provided [RCV000675240]|not specified [RCV001375522] Chr17:80113332 [GRCh38]
Chr17:78087131 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1947C>T (p.Phe649=) single nucleotide variant Glycogen storage disease, type II [RCV002059104]|not provided [RCV000342373] Chr17:80112934 [GRCh38]
Chr17:78086733 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1211A>T (p.Asp404Val) single nucleotide variant not provided [RCV000343108] Chr17:80108713 [GRCh38]
Chr17:78082512 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) single nucleotide variant Glycogen storage disease, type II [RCV001085439]|not provided [RCV000586838]|not specified [RCV000275982] Chr17:80118272 [GRCh38]
Chr17:78092071 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.861C>T (p.Pro287=) single nucleotide variant Cardiovascular phenotype [RCV002446521]|Glycogen storage disease, type II [RCV001080117]|not provided [RCV000274967]|not specified [RCV001192851] Chr17:80107802 [GRCh38]
Chr17:78081601 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2391C>T (p.Ala797=) single nucleotide variant Cardiovascular phenotype [RCV003165725]|Glycogen storage disease, type II [RCV001393526]|not provided [RCV000276337] Chr17:80117659 [GRCh38]
Chr17:78091458 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) single nucleotide variant Glycogen storage disease, type II [RCV000799633]|not provided [RCV000276602] Chr17:80113299 [GRCh38]
Chr17:78087098 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) single nucleotide variant Glycogen storage disease, type II [RCV001063307]|not provided [RCV000311191] Chr17:80113332 [GRCh38]
Chr17:78087131 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.546+3G>A single nucleotide variant Glycogen storage disease, type II [RCV000692313]|not provided [RCV000342404] Chr17:80105135 [GRCh38]
Chr17:78078934 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.317G>A (p.Arg106His) single nucleotide variant Glycogen storage disease, type II [RCV000631065]|not provided [RCV000380809] Chr17:80104903 [GRCh38]
Chr17:78078702 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.692+9T>C single nucleotide variant Glycogen storage disease, type II [RCV001082113]|not provided [RCV000726158]|not specified [RCV000379348] Chr17:80105903 [GRCh38]
Chr17:78079702 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.534C>G (p.Arg178=) single nucleotide variant Glycogen storage disease, type II [RCV002059207]|not provided [RCV000380961] Chr17:80105120 [GRCh38]
Chr17:78078919 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.736del (p.Leu246fs) deletion Glycogen storage disease, type II [RCV000410911]|not provided [RCV000726173] Chr17:80107599 [GRCh38]
Chr17:78081398 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) single nucleotide variant Glycogen storage disease, type II [RCV000554270]|not provided [RCV000277163] Chr17:80112646 [GRCh38]
Chr17:78086445 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2222A>T (p.Asp741Val) single nucleotide variant not provided [RCV000278660] Chr17:80117000 [GRCh38]
Chr17:78090799 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2647-8C>T single nucleotide variant Glycogen storage disease, type II [RCV001000494]|not provided [RCV001705410]|not specified [RCV000278787] Chr17:80118645 [GRCh38]
Chr17:78092444 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.2652G>A (p.Thr884=) single nucleotide variant Cardiovascular phenotype [RCV002429231]|Glycogen storage disease, type II [RCV001085559]|not provided [RCV000726336] Chr17:80118658 [GRCh38]
Chr17:78092457 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) single nucleotide variant Glycogen storage disease, type II [RCV000664619]|not provided [RCV000278497] Chr17:80110736 [GRCh38]
Chr17:78084535 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2656G>A (p.Val886Met) single nucleotide variant Cardiovascular phenotype [RCV002429224]|Glycogen storage disease, type II [RCV002519172]|not provided [RCV000310236] Chr17:80118662 [GRCh38]
Chr17:78092461 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1356C>T (p.Ala452=) single nucleotide variant Cardiovascular phenotype [RCV002379136]|Glycogen storage disease, type II [RCV001001227]|not provided [RCV000725823] Chr17:80109974 [GRCh38]
Chr17:78083773 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) single nucleotide variant Glycogen storage disease, type II [RCV000671751]|not provided [RCV000313359] Chr17:80117015 [GRCh38]
Chr17:78090814 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.25T>C (p.Ser9Pro) single nucleotide variant not provided [RCV000345427] Chr17:80104611 [GRCh38]
Chr17:78078410 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) single nucleotide variant Cardiomyopathy [RCV000852731]|Cardiovascular phenotype [RCV002379127]|Glycogen storage disease, type II [RCV000528796]|not provided [RCV001533532]|not specified [RCV000346911] Chr17:80108788 [GRCh38]
Chr17:78082587 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) single nucleotide variant Glycogen storage disease, type II [RCV001078141]|not provided [RCV000382384] Chr17:80108495 [GRCh38]
Chr17:78082294 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2799+4A>G single nucleotide variant Glycogen storage disease, type II [RCV000674123]|not provided [RCV000382015] Chr17:80118809 [GRCh38]
Chr17:78092608 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1143C>T (p.Thr381=) single nucleotide variant Cardiovascular phenotype [RCV002450810]|Glycogen storage disease, type II [RCV001087108]|not provided [RCV000279653] Chr17:80108556 [GRCh38]
Chr17:78082355 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2580C>T (p.Asp860=) single nucleotide variant Cardiovascular phenotype [RCV002429213]|Glycogen storage disease, type II [RCV001001755]|not provided [RCV000675249]|not specified [RCV000314439] Chr17:80118291 [GRCh38]
Chr17:78092090 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) single nucleotide variant Glycogen storage disease, type II [RCV000823361]|not provided [RCV000346548] Chr17:80105887 [GRCh38]
Chr17:78079686 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) single nucleotide variant Glycogen storage disease, type II [RCV000631060]|not provided [RCV000349152] Chr17:80104833 [GRCh38]
Chr17:78078632 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) single nucleotide variant Glycogen storage disease, type II [RCV001080632]|not provided [RCV000349846] Chr17:80108767 [GRCh38]
Chr17:78082566 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2510G>A (p.Arg837His) single nucleotide variant Glycogen storage disease, type II [RCV001053587]|See cases [RCV002252081]|not provided [RCV000385123] Chr17:80118221 [GRCh38]
Chr17:78092020 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) single nucleotide variant Glycogen storage disease, type II [RCV000673833]|not provided [RCV000386415] Chr17:80110020 [GRCh38]
Chr17:78083819 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu) single nucleotide variant Glycogen storage disease, type II [RCV002522033]|not provided [RCV000282994] Chr17:80112709 [GRCh38]
Chr17:78086508 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.468C>T (p.Thr156=) single nucleotide variant Glycogen storage disease, type II [RCV002059294]|not provided [RCV000283468] Chr17:80105054 [GRCh38]
Chr17:78078853 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) single nucleotide variant Glycogen storage disease, type II [RCV001086784]|not provided [RCV000283710] Chr17:80112071 [GRCh38]
Chr17:78085870 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) single nucleotide variant Glycogen storage disease, type II [RCV000705153]|not provided [RCV000316023] Chr17:80105816 [GRCh38]
Chr17:78079615 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2712G>A (p.Val904=) single nucleotide variant Glycogen storage disease, type II [RCV001494951]|not provided [RCV000316137] Chr17:80118718 [GRCh38]
Chr17:78092517 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1195-4G>T single nucleotide variant not provided [RCV000385088] Chr17:80108693 [GRCh38]
Chr17:78082492 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1425G>A (p.Pro475=) single nucleotide variant Cardiovascular phenotype [RCV002392796]|Glycogen storage disease, type II [RCV001080587]|not provided [RCV000387536] Chr17:80110043 [GRCh38]
Chr17:78083842 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC insertion Glycogen storage disease, type II [RCV001478126]|not provided [RCV000284263] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1888+5G>T single nucleotide variant Glycogen storage disease, type II [RCV000692030]|not provided [RCV000284467] Chr17:80112716 [GRCh38]
Chr17:78086515 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.993G>A (p.Arg331=) single nucleotide variant Glycogen storage disease, type II [RCV001456955]|not provided [RCV000285090] Chr17:80108327 [GRCh38]
Chr17:78082126 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys) single nucleotide variant not provided [RCV000285793]|not specified [RCV003479092] Chr17:80108334 [GRCh38]
Chr17:78082133 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) single nucleotide variant Glycogen storage disease, type II [RCV001239039]|Inborn genetic diseases [RCV002519187]|not provided [RCV000318999] Chr17:80107851 [GRCh38]
Chr17:78081650 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-2C>T single nucleotide variant not provided [RCV001697645]|not specified [RCV000352150] Chr17:80104585 [GRCh38]
Chr17:78078384 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1482A>G (p.Thr494=) single nucleotide variant Cardiovascular phenotype [RCV002392803]|Glycogen storage disease, type II [RCV001087762]|not provided [RCV000725799]|not specified [RCV000389259] Chr17:80110771 [GRCh38]
Chr17:78084570 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1075+9T>C single nucleotide variant Glycogen storage disease, type II [RCV001087978]|not provided [RCV000726676]|not specified [RCV000285215] Chr17:80108418 [GRCh38]
Chr17:78082217 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) single nucleotide variant Glycogen storage disease, type II [RCV000550880]|not provided [RCV000286379] Chr17:80117053 [GRCh38]
Chr17:78090852 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.664G>A (p.Val222Met) single nucleotide variant Glycogen storage disease, type II [RCV000631099]|not provided [RCV001705433]|not specified [RCV000287222] Chr17:80105866 [GRCh38]
Chr17:78079665 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2064C>T (p.Ser688=) single nucleotide variant Cardiovascular phenotype [RCV003372681]|Glycogen storage disease, type II [RCV000322043]|not provided [RCV000726098]|not specified [RCV000287563] Chr17:80113241 [GRCh38]
Chr17:78087040 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) single nucleotide variant Glycogen storage disease, type II [RCV000535428]|not provided [RCV000319725] Chr17:80107705 [GRCh38]
Chr17:78081504 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.444C>T (p.Tyr148=) single nucleotide variant Glycogen storage disease, type II [RCV001445404]|not provided [RCV000353451] Chr17:80105030 [GRCh38]
Chr17:78078829 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.351G>A (p.Leu117=) single nucleotide variant Cardiovascular phenotype [RCV002450806]|Glycogen storage disease, type II [RCV000540488]|not provided [RCV001697647]|not specified [RCV000355526] Chr17:80104937 [GRCh38]
Chr17:78078736 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1438-7_1438-5del deletion Glycogen storage disease, type II [RCV002522027]|not provided [RCV000726484] Chr17:80110718..80110720 [GRCh38]
Chr17:78084517..78084519 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2647-6G>A single nucleotide variant Glycogen storage disease, type II [RCV001418402]|not provided [RCV000725455]|not specified [RCV000390653] Chr17:80118647 [GRCh38]
Chr17:78092446 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.-236C>T single nucleotide variant Glycogen storage disease, type II [RCV000275921] Chr17:80101687 [GRCh38]
Chr17:78075486 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.693-4G>T single nucleotide variant Glycogen storage disease, type II [RCV001079986]|not provided [RCV000723555] Chr17:80107553 [GRCh38]
Chr17:78081352 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC insertion Glycogen storage disease, type II [RCV000631107]|not specified [RCV000288984] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
benign|likely benign|uncertain significance
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) single nucleotide variant Glycogen storage disease, type II [RCV000550551]|Inborn genetic diseases [RCV002518156]|Primary dilated cardiomyopathy [RCV000852730]|not provided [RCV001697654]|not specified [RCV000357182] Chr17:80108787 [GRCh38]
Chr17:78082586 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) single nucleotide variant Glycogen storage disease, type II [RCV000631077]|not provided [RCV000393395] Chr17:80113338 [GRCh38]
Chr17:78087137 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) single nucleotide variant Glycogen storage disease, type II [RCV000803211]|not provided [RCV000393127] Chr17:80112038 [GRCh38]
Chr17:78085837 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) single nucleotide variant Glycogen storage disease, type II [RCV000265557] Chr17:80118759 [GRCh38]
Chr17:78092558 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1053G>T (p.Val351=) single nucleotide variant Glycogen storage disease, type II [RCV001494056]|not provided [RCV000289985] Chr17:80108387 [GRCh38]
Chr17:78082186 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1712T>C (p.Leu571Pro) single nucleotide variant not provided [RCV000291134] Chr17:80112058 [GRCh38]
Chr17:78085857 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.866C>T (p.Ala289Val) single nucleotide variant Glycogen storage disease, type II [RCV000541633]|not provided [RCV000324645] Chr17:80107807 [GRCh38]
Chr17:78081606 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) single nucleotide variant Glycogen storage disease, type II [RCV000531819]|Primary dilated cardiomyopathy [RCV000852732]|not specified [RCV000359113] Chr17:80109961 [GRCh38]
Chr17:78083760 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) single nucleotide variant Cardiomyopathy [RCV000852729]|Glycogen storage disease, type II [RCV000806320]|not provided [RCV000360148] Chr17:80107854 [GRCh38]
Chr17:78081653 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.2478G>A (p.Leu826=) single nucleotide variant Cardiovascular phenotype [RCV002446522]|Glycogen storage disease, type II [RCV000335490]|not provided [RCV001534583]|not specified [RCV000395311] Chr17:80117746 [GRCh38]
Chr17:78091545 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.705G>A (p.Thr235=) single nucleotide variant Cardiovascular phenotype [RCV002365303]|Glycogen storage disease, type II [RCV000263169]|not provided [RCV000396482]|not specified [RCV002509344] Chr17:80107569 [GRCh38]
Chr17:78081368 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.*91G>A single nucleotide variant Glycogen storage disease, type II [RCV000277433]|not provided [RCV001683311] Chr17:80119422 [GRCh38]
Chr17:78093221 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) single nucleotide variant Glycogen storage disease, type II [RCV001337258]|not provided [RCV000261064] Chr17:80110005 [GRCh38]
Chr17:78083804 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.510C>T (p.Asp170=) single nucleotide variant Cardiovascular phenotype [RCV003165718]|Glycogen storage disease, type II [RCV001084686]|not provided [RCV000293574]|not specified [RCV003323485] Chr17:80105096 [GRCh38]
Chr17:78078895 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2332-10C>G single nucleotide variant Glycogen storage disease, type II [RCV001084656]|not provided [RCV000325242] Chr17:80117590 [GRCh38]
Chr17:78091389 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2383G>A (p.Glu795Lys) single nucleotide variant not provided [RCV000397630] Chr17:80117651 [GRCh38]
Chr17:78091450 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.702G>A (p.Thr234=) single nucleotide variant Cardiovascular phenotype [RCV002374477]|Glycogen storage disease, type II [RCV001447054]|not provided [RCV000398386] Chr17:80107566 [GRCh38]
Chr17:78081365 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.546+18G>A single nucleotide variant Glycogen storage disease, type II [RCV001001968]|not provided [RCV000675215]|not specified [RCV000398318] Chr17:80105150 [GRCh38]
Chr17:78078949 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.131G>T (p.Gly44Val) single nucleotide variant Glycogen storage disease, type II [RCV000278138]|not provided [RCV000786314] Chr17:80104717 [GRCh38]
Chr17:78078516 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) single nucleotide variant Cardiovascular phenotype [RCV002418138]|Glycogen storage disease, type II [RCV001082960]|not provided [RCV000726677] Chr17:80113286 [GRCh38]
Chr17:78087085 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) single nucleotide variant Glycogen storage disease, type II [RCV000702676]|not provided [RCV000295145] Chr17:80112664 [GRCh38]
Chr17:78086463 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) single nucleotide variant Glycogen storage disease, type II [RCV000794399]|not provided [RCV000295782] Chr17:80108601 [GRCh38]
Chr17:78082400 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2427C>G (p.Ala809=) single nucleotide variant Glycogen storage disease, type II [RCV001460062]|not provided [RCV000329722] Chr17:80117695 [GRCh38]
Chr17:78091494 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) single nucleotide variant GAA-related condition [RCV003391044]|Glycogen storage disease, type II [RCV000264524]|not provided [RCV000364773]|not specified [RCV002307478] Chr17:80113228 [GRCh38]
Chr17:78087027 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1851G>A (p.Val617=) single nucleotide variant Glycogen storage disease, type II [RCV001425010]|not provided [RCV000363158] Chr17:80112674 [GRCh38]
Chr17:78086473 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1560C>T (p.Asn520=) single nucleotide variant Glycogen storage disease, type II [RCV001088988]|not provided [RCV000365610] Chr17:80110949 [GRCh38]
Chr17:78084748 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) single nucleotide variant Glycogen storage disease, type II [RCV000793157]|not provided [RCV000400853] Chr17:80105778 [GRCh38]
Chr17:78079577 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1536C>T (p.Phe512=) single nucleotide variant Glycogen storage disease, type II [RCV001085108]|not provided [RCV000725394]|not specified [RCV000264734] Chr17:80110825 [GRCh38]
Chr17:78084624 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1930G>C (p.Ala644Pro) single nucleotide variant not provided [RCV000297668] Chr17:80112917 [GRCh38]
Chr17:78086716 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) single nucleotide variant Glycogen storage disease, type II [RCV000540426]|Primary dilated cardiomyopathy [RCV000852727]|not provided [RCV001697646]|not specified [RCV000298334] Chr17:80104954 [GRCh38]
Chr17:78078753 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.546+6C>T single nucleotide variant Glycogen storage disease, type II [RCV000818055]|not provided [RCV000330299]|not specified [RCV003323491] Chr17:80105138 [GRCh38]
Chr17:78078937 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) single nucleotide variant Cardiovascular phenotype [RCV002450800]|Glycogen storage disease, type II [RCV000529044]|not provided [RCV000331593] Chr17:80117101 [GRCh38]
Chr17:78090900 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2474C>G (p.Pro825Arg) single nucleotide variant not provided [RCV000332207] Chr17:80117742 [GRCh38]
Chr17:78091541 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.249C>T (p.Asp83=) single nucleotide variant Glycogen storage disease, type II [RCV001078799]|not provided [RCV000364811] Chr17:80104835 [GRCh38]
Chr17:78078634 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.952A>T (p.Met318Leu) single nucleotide variant Glycogen storage disease, type II [RCV001379526]|not provided [RCV000366470] Chr17:80107893 [GRCh38]
Chr17:78081692 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1848C>T (p.Asp616=) single nucleotide variant Cardiovascular phenotype [RCV003165735]|Glycogen storage disease, type II [RCV001088257]|not provided [RCV000402428] Chr17:80112671 [GRCh38]
Chr17:78086470 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) single nucleotide variant Glycogen storage disease, type II [RCV001049848]|not provided [RCV000403113] Chr17:80117075 [GRCh38]
Chr17:78090874 [GRCh37]
Chr17:17q25.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) single nucleotide variant Glycogen storage disease, type II [RCV000815535]|Long QT syndrome [RCV000852726]|not provided [RCV000403362] Chr17:80104948 [GRCh38]
Chr17:78078747 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.2253C>T (p.Leu751=) single nucleotide variant Cardiovascular phenotype [RCV002446535]|Glycogen storage disease, type II [RCV001080332]|not provided [RCV000403504] Chr17:80117031 [GRCh38]
Chr17:78090830 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.412C>G (p.Leu138Val) single nucleotide variant Glycogen storage disease, type II [RCV000533465]|not provided [RCV000403545] Chr17:80104998 [GRCh38]
Chr17:78078797 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.858+4C>G single nucleotide variant Glycogen storage disease, type II [RCV001211480]|not provided [RCV000264924] Chr17:80107726 [GRCh38]
Chr17:78081525 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) single nucleotide variant Glycogen storage disease, type II [RCV000686776]|not provided [RCV000267019] Chr17:80117691 [GRCh38]
Chr17:78091490 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) single nucleotide variant Cardiovascular phenotype [RCV002429212]|Glycogen storage disease, type II [RCV000382817]|Hypertrophic cardiomyopathy [RCV000852733]|not provided [RCV000675239]|not specified [RCV000265982] Chr17:80113329 [GRCh38]
Chr17:78087128 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1637G>T (p.Gly546Val) single nucleotide variant not provided [RCV000298772] Chr17:80111983 [GRCh38]
Chr17:78085782 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) single nucleotide variant Glycogen storage disease, type II [RCV000692315]|not provided [RCV000297755]|not specified [RCV002229745] Chr17:80117663 [GRCh38]
Chr17:78091462 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) single nucleotide variant Glycogen storage disease, type II [RCV000552495]|not provided [RCV000332415] Chr17:80117672 [GRCh38]
Chr17:78091471 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) single nucleotide variant Glycogen storage disease, type II [RCV001039032]|not provided [RCV000726314]|not specified [RCV002469100] Chr17:80108353 [GRCh38]
Chr17:78082152 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1192C>T (p.Leu398=) single nucleotide variant Glycogen storage disease, type II [RCV001081335]|not provided [RCV000404831] Chr17:80108605 [GRCh38]
Chr17:78082404 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1410C>T (p.Asn470=) single nucleotide variant Cardiovascular phenotype [RCV002392802]|Glycogen storage disease, type II [RCV001089130]|not provided [RCV000403878] Chr17:80110028 [GRCh38]
Chr17:78083827 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.927G>A (p.Gly309=) single nucleotide variant not provided [RCV000404123] Chr17:80107868 [GRCh38]
Chr17:78081667 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) single nucleotide variant Glycogen storage disease, type II [RCV001062907]|not provided [RCV000406460] Chr17:80110036 [GRCh38]
Chr17:78083835 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) single nucleotide variant Cardiovascular phenotype [RCV002365324]|Glycogen storage disease, type II [RCV000631058]|not provided [RCV000266365] Chr17:80104656 [GRCh38]
Chr17:78078455 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) single nucleotide variant Glycogen storage disease, type II [RCV000631070]|not provided [RCV000268128]|not specified [RCV003114442] Chr17:80108822 [GRCh38]
Chr17:78082621 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1332T>C (p.Pro444=) single nucleotide variant Cardiovascular phenotype [RCV002379134]|Glycogen storage disease, type II [RCV000553536]|not provided [RCV001558371]|not specified [RCV000301067] Chr17:80109950 [GRCh38]
Chr17:78083749 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) single nucleotide variant Glycogen storage disease, type II [RCV001125317]|not provided [RCV000336472] Chr17:80105869 [GRCh38]
Chr17:78079668 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.266G>A (p.Arg89His) single nucleotide variant Glycogen storage disease, type II [RCV000547185]|not provided [RCV000370905]|not specified [RCV002509345] Chr17:80104852 [GRCh38]
Chr17:78078651 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1347G>A (p.Ser449=) single nucleotide variant Cardiovascular phenotype [RCV002379146]|Glycogen storage disease, type II [RCV001499212]|not provided [RCV000371494] Chr17:80109965 [GRCh38]
Chr17:78083764 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) single nucleotide variant Glycogen storage disease, type II [RCV000546554]|not provided [RCV001576441]|not specified [RCV000370406] Chr17:80109970 [GRCh38]
Chr17:78083769 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2418G>A (p.Thr806=) single nucleotide variant Glycogen storage disease, type II [RCV001088707]|not provided [RCV000371750] Chr17:80117686 [GRCh38]
Chr17:78091485 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2800-9C>G single nucleotide variant Glycogen storage disease, type II [RCV000269141] Chr17:80119263 [GRCh38]
Chr17:78093062 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.297C>T (p.Thr99=) single nucleotide variant Glycogen storage disease, type II [RCV001087805]|not provided [RCV000597595] Chr17:80104883 [GRCh38]
Chr17:78078682 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1794C>G (p.Ile598Met) single nucleotide variant Glycogen storage disease, type II [RCV001279300]|not provided [RCV003145509] Chr17:80112617 [GRCh38]
Chr17:78086416 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1195-15G>C single nucleotide variant Glycogen storage disease, type II [RCV002084527] Chr17:80108682 [GRCh38]
Chr17:78082481 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.115C>A (p.Pro39Thr) single nucleotide variant Glycogen storage disease, type II [RCV001367724] Chr17:80104701 [GRCh38]
Chr17:78078500 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2105G>A (p.Arg702His) single nucleotide variant Glycogen storage disease, type II [RCV000541873]|not provided [RCV000489782] Chr17:80113282 [GRCh38]
Chr17:78087081 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000017.10:g.78086448A>AA single nucleotide variant not provided [RCV000727554] Chr17:80112649..80112650 [GRCh38]
Chr17:78086448 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr) single nucleotide variant Glycogen storage disease, type II [RCV001279297] Chr17:80105881 [GRCh38]
Chr17:78079680 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) single nucleotide variant Glycogen storage disease, type II [RCV000631094]|not provided [RCV000594929] Chr17:80107658 [GRCh38]
Chr17:78081457 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) single nucleotide variant Glycogen storage disease, type II [RCV000589039]|not provided [RCV000489843] Chr17:80104704 [GRCh38]
Chr17:78078503 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.546+8G>A single nucleotide variant Glycogen storage disease, type II [RCV001089284]|not provided [RCV000595321] Chr17:80105140 [GRCh38]
Chr17:78078939 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1497G>A (p.Trp499Ter) single nucleotide variant not provided [RCV002292963] Chr17:80110786 [GRCh38]
Chr17:78084585 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.258dup (p.Asn87fs) duplication Glycogen storage disease, type II [RCV000291526]|not provided [RCV000790707] Chr17:80104837..80104838 [GRCh38]
Chr17:78078636..78078637 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.*521A>G single nucleotide variant Glycogen storage disease, type II [RCV000302889] Chr17:80119852 [GRCh38]
Chr17:78093651 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.531C>T (p.Asn177=) single nucleotide variant Glycogen storage disease, type II [RCV000314949] Chr17:80105117 [GRCh38]
Chr17:78078916 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.546G>C (p.Thr182=) single nucleotide variant Glycogen storage disease, type II [RCV001249018]|not provided [RCV000361874] Chr17:80105132 [GRCh38]
Chr17:78078931 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) single nucleotide variant Glycogen storage disease, type II [RCV000362039] Chr17:80113017 [GRCh38]
Chr17:78086816 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) single nucleotide variant Glycogen storage disease, type II [RCV000399666]|not provided [RCV001508997]|not specified [RCV000595797] Chr17:80104843 [GRCh38]
Chr17:78078642 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.955+14C>A single nucleotide variant Glycogen storage disease, type II [RCV000346137]|not specified [RCV000604164] Chr17:80107910 [GRCh38]
Chr17:78081709 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.*98A>T single nucleotide variant Glycogen storage disease, type II [RCV000331344] Chr17:80119429 [GRCh38]
Chr17:78093228 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.511G>A (p.Val171Met) single nucleotide variant Glycogen storage disease, type II [RCV000363819] Chr17:80105097 [GRCh38]
Chr17:78078896 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) single nucleotide variant Glycogen storage disease, type II [RCV000293486] Chr17:80117108 [GRCh38]
Chr17:78090907 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) single nucleotide variant Glycogen storage disease, type II [RCV000383868]|not provided [RCV000723486] Chr17:80107717 [GRCh38]
Chr17:78081516 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.-178G>A single nucleotide variant Glycogen storage disease, type II [RCV000331041]|Primary ciliary dyskinesia [RCV000398836]|not provided [RCV001675823] Chr17:80101745 [GRCh38]
Chr17:78075544 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) single nucleotide variant Glycogen storage disease, type II [RCV001243631]|not provided [RCV000333327] Chr17:80112899 [GRCh38]
Chr17:78086698 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2800-11C>G single nucleotide variant Glycogen storage disease, type II [RCV000365905]|not specified [RCV000422518] Chr17:80119261 [GRCh38]
Chr17:78093060 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.-62A>C single nucleotide variant Glycogen storage disease, type II [RCV000385454] Chr17:80101861 [GRCh38]
Chr17:78075660 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) single nucleotide variant Cardiovascular phenotype [RCV002446586]|Glycogen storage disease, type II [RCV000385517]|not provided [RCV001706520] Chr17:80117097 [GRCh38]
Chr17:78090896 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.546G>A (p.Thr182=) single nucleotide variant Glycogen storage disease, type II [RCV000385549]|not provided [RCV000723387] Chr17:80105132 [GRCh38]
Chr17:78078931 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) single nucleotide variant Glycogen storage disease, type II [RCV000306541]|not provided [RCV000725236] Chr17:80108537 [GRCh38]
Chr17:78082336 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.*223C>T single nucleotide variant Glycogen storage disease, type II [RCV000334735]|not provided [RCV000675252] Chr17:80119554 [GRCh38]
Chr17:78093353 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_017950.4(CCDC40):c.*265C>T single nucleotide variant Glycogen storage disease, type II [RCV000348770]|Primary ciliary dyskinesia 15 [RCV001128165]|Primary ciliary dyskinesia [RCV000401445]|not provided [RCV001709598] Chr17:80100040 [GRCh38]
Chr17:78073839 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.-260G>C single nucleotide variant Glycogen storage disease, type II [RCV000381550]|Primary ciliary dyskinesia [RCV000352096]|not provided [RCV001643014] Chr17:80101663 [GRCh38]
Chr17:78075462 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) single nucleotide variant Cardiovascular phenotype [RCV002429282]|Glycogen storage disease, type II [RCV000295389]|not provided [RCV003133223] Chr17:80117085 [GRCh38]
Chr17:78090884 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) single nucleotide variant Glycogen storage disease, type II [RCV000368867]|not provided [RCV000788438] Chr17:80110006 [GRCh38]
Chr17:78083805 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) single nucleotide variant Glycogen storage disease, type II [RCV000322655]|Primary ciliary dyskinesia 15 [RCV000601172]|Primary ciliary dyskinesia [RCV000260712]|not provided [RCV001705962]|not specified [RCV000150257] Chr17:80099556 [GRCh38]
Chr17:78073355 [GRCh37]
Chr17:17q25.3
benign
NM_017950.4(CCDC40):c.*15T>C single nucleotide variant Glycogen storage disease, type II [RCV000326592]|Primary ciliary dyskinesia 15 [RCV000612774]|Primary ciliary dyskinesia [RCV000272230]|not provided [RCV001636689]|not specified [RCV000150258] Chr17:80099790 [GRCh38]
Chr17:78073589 [GRCh37]
Chr17:17q25.3
benign
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) single nucleotide variant Glycogen storage disease, type II [RCV000265227]|Primary ciliary dyskinesia 15 [RCV000613730]|Primary ciliary dyskinesia [RCV000301116]|not provided [RCV001706030]|not specified [RCV000155469] Chr17:80097253 [GRCh38]
Chr17:78071052 [GRCh37]
Chr17:17q25.3
benign
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) single nucleotide variant Glycogen storage disease, type II [RCV000287474]|Primary ciliary dyskinesia 15 [RCV000608384]|Primary ciliary dyskinesia [RCV000376233]|not provided [RCV001706031]|not specified [RCV000155470] Chr17:80099763 [GRCh38]
Chr17:78073562 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1703A>T (p.His568Leu) single nucleotide variant Glycogen storage disease, type II [RCV001885183]|not provided [RCV001781144] Chr17:80112049 [GRCh38]
Chr17:78085848 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) microsatellite Glycogen storage disease, type II [RCV000285320]|not provided [RCV000725814] Chr17:80118210..80118211 [GRCh38]
Chr17:78092009..78092010 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) single nucleotide variant Glycogen storage disease, type II [RCV000285433]|not provided [RCV000498412]|not specified [RCV002265734] Chr17:80107625 [GRCh38]
Chr17:78081424 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.*309C>T single nucleotide variant Glycogen storage disease, type II [RCV000285532] Chr17:80119640 [GRCh38]
Chr17:78093439 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) single nucleotide variant Glycogen storage disease, type II [RCV000379558]|Primary ciliary dyskinesia 15 [RCV001126068]|Primary ciliary dyskinesia [RCV000266556]|not provided [RCV001705773]|not specified [RCV000214593] Chr17:80099686 [GRCh38]
Chr17:78073485 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.934del (p.Leu312fs) deletion Glycogen storage disease, type II [RCV001265225]|not provided [RCV000308477] Chr17:80107874 [GRCh38]
Chr17:78081673 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1636+460_2672del deletion Glycogen storage disease, type II [RCV000408768] Chr17:80111484..80118677 [GRCh38]
Chr17:78085283..78092476 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) duplication Glycogen storage disease, type II [RCV000408809] Chr17:80118706..80118707 [GRCh38]
Chr17:78092505..78092506 [GRCh37]
Chr17:17q25.3
pathogenic
NM_017950.4(CCDC40):c.*149T>C single nucleotide variant Glycogen storage disease, type II [RCV000383550]|Primary ciliary dyskinesia 15 [RCV001128161]|Primary ciliary dyskinesia [RCV000381975]|not provided [RCV001653588] Chr17:80099924 [GRCh38]
Chr17:78073723 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) single nucleotide variant Glycogen storage disease, type II [RCV000309076]|not provided [RCV000786313]|not specified [RCV002469130] Chr17:80105089 [GRCh38]
Chr17:78078888 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) single nucleotide variant Glycogen storage disease, type II [RCV000353485]|not provided [RCV000725389] Chr17:80108398 [GRCh38]
Chr17:78082197 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.54C>T (p.Leu18=) single nucleotide variant Glycogen storage disease, type II [RCV000372599] Chr17:80104640 [GRCh38]
Chr17:78078439 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.573C>T (p.Tyr191=) single nucleotide variant Cardiovascular phenotype [RCV002350492]|Glycogen storage disease, type II [RCV001439906]|not provided [RCV001718980] Chr17:80105775 [GRCh38]
Chr17:78079574 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1195-15G>A single nucleotide variant Glycogen storage disease, type II [RCV000287500]|not specified [RCV000419694] Chr17:80108682 [GRCh38]
Chr17:78082481 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.858+10C>T single nucleotide variant Glycogen storage disease, type II [RCV000324021]|not provided [RCV000592339] Chr17:80107732 [GRCh38]
Chr17:78081531 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) single nucleotide variant Glycogen storage disease, type II [RCV000339288]|not provided [RCV003144211] Chr17:80104981 [GRCh38]
Chr17:78078780 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) single nucleotide variant Glycogen storage disease, type II [RCV000372885]|not provided [RCV000497864]|not specified [RCV002265733] Chr17:80107616 [GRCh38]
Chr17:78081415 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.*288G>T single nucleotide variant Glycogen storage disease, type II [RCV000372992] Chr17:80119619 [GRCh38]
Chr17:78093418 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-338C>G single nucleotide variant Glycogen storage disease, type II [RCV000271949]|Primary ciliary dyskinesia [RCV000294842]|not provided [RCV001711938] Chr17:80101585 [GRCh38]
Chr17:78075384 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.*128T>C single nucleotide variant Glycogen storage disease, type II [RCV000374344] Chr17:80119459 [GRCh38]
Chr17:78093258 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2151C>T (p.His717=) single nucleotide variant Glycogen storage disease, type II [RCV000325883] Chr17:80113328 [GRCh38]
Chr17:78087127 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) single nucleotide variant Glycogen storage disease, type II [RCV000326505] Chr17:80119314 [GRCh38]
Chr17:78093113 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) single nucleotide variant Cardiovascular phenotype [RCV002429283]|Glycogen storage disease, type II [RCV000357910]|not provided [RCV003144212] Chr17:80118678 [GRCh38]
Chr17:78092477 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) single nucleotide variant Glycogen storage disease, type II [RCV001248974]|not provided [RCV000375289] Chr17:80112604 [GRCh38]
Chr17:78086403 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.*443G>A single nucleotide variant Glycogen storage disease, type II [RCV000394085] Chr17:80119774 [GRCh38]
Chr17:78093573 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1754+1G>A single nucleotide variant Glycogen storage disease, type II [RCV001200862]|not provided [RCV000300474] Chr17:80112101 [GRCh38]
Chr17:78085900 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.-312C>T single nucleotide variant Glycogen storage disease, type II [RCV000326975]|not specified [RCV000428679] Chr17:80101611 [GRCh38]
Chr17:78075410 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) single nucleotide variant Cardiomyopathy [RCV000852725]|Glycogen storage disease, type II [RCV000342526]|not provided [RCV003129832]|not specified [RCV000418379] Chr17:80104783 [GRCh38]
Chr17:78078582 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_017950.4(CCDC40):c.*186A>C single nucleotide variant Glycogen storage disease, type II [RCV000291536]|Primary ciliary dyskinesia 15 [RCV001128162]|Primary ciliary dyskinesia [RCV000287573]|not provided [RCV001613052] Chr17:80099961 [GRCh38]
Chr17:78073760 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.*419G>T single nucleotide variant Glycogen storage disease, type II [RCV000342723] Chr17:80119750 [GRCh38]
Chr17:78093549 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1075+12T>G single nucleotide variant Glycogen storage disease, type II [RCV000396659]|not specified [RCV000599681] Chr17:80108421 [GRCh38]
Chr17:78082220 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1320G>C (p.Met440Ile) single nucleotide variant Glycogen storage disease, type II [RCV000398587] Chr17:80108822 [GRCh38]
Chr17:78082621 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_017950.4(CCDC40):c.*654A>C single nucleotide variant Glycogen storage disease, type II [RCV000394315]|Primary ciliary dyskinesia 15 [RCV001122433]|Primary ciliary dyskinesia [RCV000302253] Chr17:80100429 [GRCh38]
Chr17:78074228 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1146T>G (p.Ala382=) single nucleotide variant Glycogen storage disease, type II [RCV002065315]|not provided [RCV001697898] Chr17:80108559 [GRCh38]
Chr17:78082358 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) single nucleotide variant Glycogen storage disease, type II [RCV000631072]|not provided [RCV000598383]|not specified [RCV001526979] Chr17:80107809 [GRCh38]
Chr17:78081608 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2646+39G>A single nucleotide variant not specified [RCV000587340] Chr17:80118396 [GRCh38]
Chr17:78092195 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.906G>A (p.Glu302=) single nucleotide variant Glycogen storage disease, type II [RCV001084756]|not provided [RCV000592177] Chr17:80107847 [GRCh38]
Chr17:78081646 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) single nucleotide variant Glycogen storage disease, type II [RCV000804798]|not provided [RCV000592361] Chr17:80104896 [GRCh38]
Chr17:78078695 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) single nucleotide variant Glycogen storage disease, type II [RCV001249091]|not provided [RCV000592368] Chr17:80108542 [GRCh38]
Chr17:78082341 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1849G>A (p.Val617Met) single nucleotide variant Cardiovascular phenotype [RCV002413678]|Glycogen storage disease, type II [RCV001240004]|not provided [RCV000591953] Chr17:80112672 [GRCh38]
Chr17:78086471 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) single nucleotide variant Glycogen storage disease, type II [RCV000694708]|not provided [RCV000592568] Chr17:80104603 [GRCh38]
Chr17:78078402 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) single nucleotide variant Glycogen storage disease, type II [RCV000598534]|not provided [RCV000726989] Chr17:80117014 [GRCh38]
Chr17:78090813 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) single nucleotide variant Glycogen storage disease, type II [RCV000586125]|not provided [RCV001783090] Chr17:80112081 [GRCh38]
Chr17:78085880 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter) single nucleotide variant Glycogen storage disease, type II [RCV000586591] Chr17:80113365 [GRCh38]
Chr17:78087164 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.727G>A (p.Asp243Asn) single nucleotide variant not provided [RCV000520829] Chr17:80107591 [GRCh38]
Chr17:78081390 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) single nucleotide variant Glycogen storage disease, type II [RCV001199859]|not provided [RCV000597451] Chr17:80112625 [GRCh38]
Chr17:78086424 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) single nucleotide variant Glycogen storage disease, type II [RCV000631090]|not provided [RCV000597568] Chr17:80108790 [GRCh38]
Chr17:78082589 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1083G>A (p.Pro361=) single nucleotide variant Cardiovascular phenotype [RCV002431754]|Glycogen storage disease, type II [RCV001080561]|not provided [RCV000727285]|not specified [RCV000593022] Chr17:80108496 [GRCh38]
Chr17:78082295 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.74C>T (p.Ala25Val) single nucleotide variant Glycogen storage disease, type II [RCV002530965]|not provided [RCV000593045] Chr17:80104660 [GRCh38]
Chr17:78078459 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) single nucleotide variant Cardiovascular phenotype [RCV002456295]|Glycogen storage disease, type II [RCV000809526]|not provided [RCV000593082] Chr17:80117676 [GRCh38]
Chr17:78091475 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.5G>C (p.Gly2Ala) single nucleotide variant Glycogen storage disease, type II [RCV001854074]|not provided [RCV000593249] Chr17:80104591 [GRCh38]
Chr17:78078390 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2481+128A>G single nucleotide variant not provided [RCV000587074] Chr17:80117877 [GRCh38]
Chr17:78091676 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2646+55G>T single nucleotide variant not provided [RCV000589352] Chr17:80118412 [GRCh38]
Chr17:78092211 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1630G>A (p.Val544Met) single nucleotide variant Glycogen storage disease, type II [RCV000804034]|not provided [RCV000734310] Chr17:80111019 [GRCh38]
Chr17:78084818 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1446C>T (p.Pro482=) single nucleotide variant Cardiovascular phenotype [RCV002395593]|Glycogen storage disease, type II [RCV000877601]|not provided [RCV001718973] Chr17:80110735 [GRCh38]
Chr17:78084534 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.859-21G>A single nucleotide variant not provided [RCV000589719] Chr17:80107779 [GRCh38]
Chr17:78081578 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1661C>T (p.Ala554Val) single nucleotide variant Glycogen storage disease, type II [RCV001854032]|not provided [RCV000593435] Chr17:80112007 [GRCh38]
Chr17:78085806 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1209C>T (p.Asn403=) single nucleotide variant Cardiovascular phenotype [RCV002350499]|Glycogen storage disease, type II [RCV001418926]|not specified [RCV000605451] Chr17:80108711 [GRCh38]
Chr17:78082510 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1593C>T (p.Asp531=) single nucleotide variant Cardiovascular phenotype [RCV002404603]|Glycogen storage disease, type II [RCV001085105]|not provided [RCV000726853] Chr17:80110982 [GRCh38]
Chr17:78084781 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2040+7T>G single nucleotide variant not provided [RCV000592023] Chr17:80113034 [GRCh38]
Chr17:78086833 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) single nucleotide variant Abnormality of metabolism/homeostasis [RCV001814152]|Glycogen storage disease, type II [RCV000409055]|not provided [RCV001726152] Chr17:80112679 [GRCh38]
Chr17:78086478 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2242del (p.Glu748fs) deletion Glycogen storage disease, type II [RCV000409225] Chr17:80117015 [GRCh38]
Chr17:78090814 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) single nucleotide variant Glycogen storage disease, type II [RCV001200860]|not provided [RCV000414717] Chr17:80112948 [GRCh38]
Chr17:78086747 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) duplication Glycogen storage disease, type II [RCV000409565] Chr17:80112644..80112645 [GRCh38]
Chr17:78086443..78086444 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1076-22T>G single nucleotide variant Glycogen storage disease, type II [RCV000409600]|not provided [RCV001570177] Chr17:80108467 [GRCh38]
Chr17:78082266 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.236_246del (p.Pro79fs) deletion Glycogen storage disease, type II [RCV000409689] Chr17:80104816..80104826 [GRCh38]
Chr17:78078615..78078625 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) single nucleotide variant Glycogen storage disease, type II [RCV000409827] Chr17:80116992 [GRCh38]
Chr17:78090791 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) single nucleotide variant Glycogen storage disease, type II [RCV001065556]|not provided [RCV000728232] Chr17:80104662 [GRCh38]
Chr17:78078461 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter) single nucleotide variant Glycogen storage disease, type II [RCV001265218]|not provided [RCV000731020] Chr17:80108547 [GRCh38]
Chr17:78082346 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2655_2656del (p.Val886fs) deletion Glycogen storage disease, type II [RCV001789710]|not provided [RCV000732997] Chr17:80118661..80118662 [GRCh38]
Chr17:78092460..78092461 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1381G>A (p.Gly461Ser) single nucleotide variant not provided [RCV000735085] Chr17:80109999 [GRCh38]
Chr17:78083798 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1076-2A>G single nucleotide variant Glycogen storage disease, type II [RCV000409982]|not provided [RCV003137981] Chr17:80108487 [GRCh38]
Chr17:78082286 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1194+2T>C single nucleotide variant Glycogen storage disease, type II [RCV000409997] Chr17:80108609 [GRCh38]
Chr17:78082408 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1193del (p.Leu398fs) deletion Glycogen storage disease, type II [RCV000410060] Chr17:80108606 [GRCh38]
Chr17:78082405 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) microsatellite Glycogen storage disease, type II [RCV000410078]|not provided [RCV001782870] Chr17:80118204..80118205 [GRCh38]
Chr17:78092003..78092004 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) single nucleotide variant Glycogen storage disease, type II [RCV000410150]|not provided [RCV000733496] Chr17:80110953 [GRCh38]
Chr17:78084752 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.546G>T (p.Thr182=) single nucleotide variant Glycogen storage disease, type II [RCV000410156]|not provided [RCV001782869] Chr17:80105132 [GRCh38]
Chr17:78078931 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) single nucleotide variant Glycogen storage disease, type II [RCV000410158]|not provided [RCV000723386] Chr17:80117016 [GRCh38]
Chr17:78090815 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2256C>T (p.Ile752=) single nucleotide variant not provided [RCV000732207] Chr17:80117034 [GRCh38]
Chr17:78090833 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2052G>C (p.Pro684=) single nucleotide variant not provided [RCV000734360] Chr17:80113229 [GRCh38]
Chr17:78087028 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) single nucleotide variant Glycogen storage disease, type II [RCV000410278] Chr17:80117005 [GRCh38]
Chr17:78090804 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1099del (p.Trp367fs) deletion Glycogen storage disease, type II [RCV000410443] Chr17:80108512 [GRCh38]
Chr17:78082311 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.924C>A (p.His308Gln) single nucleotide variant Glycogen storage disease, type II [RCV001042496]|not provided [RCV000730059] Chr17:80107865 [GRCh38]
Chr17:78081664 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1416C>G (p.Thr472=) single nucleotide variant Cardiovascular phenotype [RCV002388362]|Glycogen storage disease, type II [RCV001443304]|not provided [RCV000730061] Chr17:80110034 [GRCh38]
Chr17:78083833 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) deletion Glycogen storage disease, type II [RCV001265226]|not provided [RCV000733177] Chr17:80108363..80108364 [GRCh38]
Chr17:78082162..78082163 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2040+1G>T single nucleotide variant Glycogen storage disease, type II [RCV000410649]|not provided [RCV003137985] Chr17:80113028 [GRCh38]
Chr17:78086827 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) single nucleotide variant Glycogen storage disease, type II [RCV000410689]|not provided [RCV000730212] Chr17:80107816 [GRCh38]
Chr17:78081615 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) single nucleotide variant Glycogen storage disease, type II [RCV000410731]|not provided [RCV003137986] Chr17:80113002 [GRCh38]
Chr17:78086801 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) single nucleotide variant Glycogen storage disease, type II [RCV001585686]|not provided [RCV000728685]|not specified [RCV001193012] Chr17:80113282 [GRCh38]
Chr17:78087081 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.900G>A (p.Ala300=) single nucleotide variant Cardiovascular phenotype [RCV003165968]|Glycogen storage disease, type II [RCV001440377]|not provided [RCV000730462] Chr17:80107841 [GRCh38]
Chr17:78081640 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000017.10:g.78087054A>AA single nucleotide variant not provided [RCV000733261] Chr17:80113255..80113256 [GRCh38]
Chr17:78087054 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1257_1289del (p.Asp419_Gln429del) deletion not provided [RCV000734494] Chr17:80108755..80108787 [GRCh38]
Chr17:78082554..78082586 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1418G>A (p.Gly473Asp) single nucleotide variant not provided [RCV000734524] Chr17:80110036 [GRCh38]
Chr17:78083835 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.18G>A (p.Pro6=) single nucleotide variant Glycogen storage disease, type II [RCV001080426]|not provided [RCV000734530] Chr17:80104604 [GRCh38]
Chr17:78078403 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) single nucleotide variant Cardiovascular phenotype [RCV002424746]|Glycogen storage disease, type II [RCV000814138]|not provided [RCV000734536] Chr17:80113341 [GRCh38]
Chr17:78087140 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1222A>G (p.Met408Val) single nucleotide variant Glycogen storage disease, type II [RCV000410896] Chr17:80108724 [GRCh38]
Chr17:78082523 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) single nucleotide variant Glycogen storage disease, type II [RCV000410905]|not provided [RCV001782865] Chr17:80105775 [GRCh38]
Chr17:78079574 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) single nucleotide variant Glycogen storage disease [RCV000612594]|Glycogen storage disease, type II [RCV000410956]|not provided [RCV001782875] Chr17:80108818 [GRCh38]
Chr17:78082617 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2242dup (p.Glu748fs) duplication Glycogen storage disease, type II [RCV000411023]|not provided [RCV000524025] Chr17:80117014..80117015 [GRCh38]
Chr17:78090813..78090814 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) indel Glycogen storage disease, type II [RCV000525765]|not provided [RCV001507905] Chr17:80113309..80113310 [GRCh38]
Chr17:78087108..78087109 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) single nucleotide variant Glycogen storage disease, type II [RCV000534070]|not provided [RCV001548249] Chr17:80104863 [GRCh38]
Chr17:78078662 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) single nucleotide variant Glycogen storage disease, type II [RCV000534845] Chr17:80105836 [GRCh38]
Chr17:78079635 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1438-15_1438-1del deletion Glycogen storage disease, type II [RCV002067172]|not provided [RCV000734655] Chr17:80110709..80110723 [GRCh38]
Chr17:78084508..78084522 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1567del (p.Ser523fs) deletion Glycogen storage disease, type II [RCV000411045] Chr17:80110955 [GRCh38]
Chr17:78084754 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) single nucleotide variant Glycogen storage disease, type II [RCV000411086] Chr17:80118710 [GRCh38]
Chr17:78092509 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1192dup (p.Leu398fs) duplication Glycogen storage disease, type II [RCV000411138] Chr17:80108600..80108601 [GRCh38]
Chr17:78082399..78082400 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) single nucleotide variant Glycogen storage disease, type II [RCV000411214] Chr17:80117020 [GRCh38]
Chr17:78090819 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.393del (p.Ser132fs) deletion Glycogen storage disease, type II [RCV000411224] Chr17:80104977 [GRCh38]
Chr17:78078776 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2332-1G>C single nucleotide variant Glycogen storage disease, type II [RCV000527551] Chr17:80117599 [GRCh38]
Chr17:78091398 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) single nucleotide variant Glycogen storage disease, type II [RCV000411330] Chr17:80112033 [GRCh38]
Chr17:78085832 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) indel Glycogen storage disease, type II [RCV000411398]|not provided [RCV002461133] Chr17:80117059 [GRCh38]
Chr17:78090858 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1115A>T (p.His372Leu) single nucleotide variant Glycogen storage disease, type II [RCV000411518]|not provided [RCV001702363] Chr17:80108528 [GRCh38]
Chr17:78082327 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1143del (p.Ala382fs) deletion Glycogen storage disease, type II [RCV000411575]|not provided [RCV000727139] Chr17:80108555 [GRCh38]
Chr17:78082354 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2331+2T>A single nucleotide variant Glycogen storage disease, type II [RCV000411608]|not provided [RCV001702635] Chr17:80117111 [GRCh38]
Chr17:78090910 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) single nucleotide variant Glycogen storage disease, type II [RCV000796656]|not provided [RCV000733479] Chr17:80111988 [GRCh38]
Chr17:78085787 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) single nucleotide variant Glycogen storage disease, type II [RCV000814905]|not provided [RCV000733480] Chr17:80112703 [GRCh38]
Chr17:78086502 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1572C>A (p.Asn524Lys) single nucleotide variant not provided [RCV000733568] Chr17:80110961 [GRCh38]
Chr17:78084760 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) microsatellite Glycogen storage disease, type II [RCV000411712] Chr17:80119284..80119285 [GRCh38]
Chr17:78093083..78093084 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.281_282del (p.Pro94fs) deletion Glycogen storage disease, type II [RCV000411737] Chr17:80104867..80104868 [GRCh38]
Chr17:78078666..78078667 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) single nucleotide variant Glycogen storage disease, type II [RCV000411759]|not provided [RCV003137982] Chr17:80116991 [GRCh38]
Chr17:78090790 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.471del (p.Thr158fs) deletion Glycogen storage disease, type II [RCV000411817] Chr17:80105053 [GRCh38]
Chr17:78078852 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1326+1G>A single nucleotide variant Glycogen storage disease, type II [RCV001249034]|not provided [RCV000734207] Chr17:80108829 [GRCh38]
Chr17:78082628 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1047C>T (p.Ser349=) single nucleotide variant Cardiovascular phenotype [RCV002397516]|Glycogen storage disease, type II [RCV001089377]|not provided [RCV000734226] Chr17:80108381 [GRCh38]
Chr17:78082180 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1835A>C (p.His612Pro) single nucleotide variant not provided [RCV000734236] Chr17:80112658 [GRCh38]
Chr17:78086457 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) single nucleotide variant Glycogen storage disease, type II [RCV000412122] Chr17:80104755 [GRCh38]
Chr17:78078554 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) single nucleotide variant Glycogen storage disease, type II [RCV000538081] Chr17:80118206 [GRCh38]
Chr17:78092005 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) single nucleotide variant Glycogen storage disease, type II [RCV000538943] Chr17:80108800 [GRCh38]
Chr17:78082599 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) single nucleotide variant Glycogen storage disease, type II [RCV001045349]|not provided [RCV000731689] Chr17:80104956 [GRCh38]
Chr17:78078755 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) single nucleotide variant Glycogen storage disease, type II [RCV001243448]|not provided [RCV000731715] Chr17:80104653 [GRCh38]
Chr17:78078452 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly) single nucleotide variant Glycogen storage disease, type II [RCV001868966]|not provided [RCV000731720] Chr17:80112951 [GRCh38]
Chr17:78086750 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-32-3C>A single nucleotide variant Glycogen storage disease, type II [RCV000412452] Chr17:80104552 [GRCh38]
Chr17:78078351 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2185del (p.Leu729fs) deletion Glycogen storage disease, type II [RCV000412465] Chr17:80113361 [GRCh38]
Chr17:78087160 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) single nucleotide variant Glycogen storage disease, type II [RCV000539847]|not provided [RCV001357494] Chr17:80118308 [GRCh38]
Chr17:78092107 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2646+1G>A single nucleotide variant Glycogen storage disease, type II [RCV002541194]|not provided [RCV001781141] Chr17:80118358 [GRCh38]
Chr17:78092157 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.877G>C (p.Gly293Arg) single nucleotide variant not provided [RCV001781143] Chr17:80107818 [GRCh38]
Chr17:78081617 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) single nucleotide variant Glycogen storage disease, type II [RCV000540338]|not provided [RCV002275051] Chr17:80108776 [GRCh38]
Chr17:78082575 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.482_483del (p.Pro161fs) deletion Glycogen storage disease, type II [RCV001219022]|not provided [RCV000731885] Chr17:80105066..80105067 [GRCh38]
Chr17:78078865..78078866 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.693-5del deletion Glycogen storage disease, type II [RCV000541308] Chr17:80107550 [GRCh38]
Chr17:78081349 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1799G>A (p.Arg600His) single nucleotide variant Glycogen storage disease, type II [RCV000408964]|not provided [RCV000521900] Chr17:80112622 [GRCh38]
Chr17:78086421 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) single nucleotide variant Glycogen storage disease, type II [RCV000409030] Chr17:80112655 [GRCh38]
Chr17:78086454 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2361A>C (p.Pro787=) single nucleotide variant not provided [RCV000593899] Chr17:80117629 [GRCh38]
Chr17:78091428 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.18G>C (p.Pro6=) single nucleotide variant Glycogen storage disease, type II [RCV001496183]|not provided [RCV000728216] Chr17:80104604 [GRCh38]
Chr17:78078403 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_000152.5(GAA):c.2052G>A (p.Pro684=) single nucleotide variant Cardiovascular phenotype [RCV002418303]|Glycogen storage disease, type II [RCV001085036]|not provided [RCV000726737]|not specified [RCV000420693] Chr17:80113229 [GRCh38]
Chr17:78087028 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) single nucleotide variant Glycogen storage disease, type II [RCV000666526]|not provided [RCV000443985] Chr17:80110767 [GRCh38]
Chr17:78084566 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1194+17G>T single nucleotide variant Glycogen storage disease, type II [RCV002062675]|not specified [RCV000434518] Chr17:80108624 [GRCh38]
Chr17:78082423 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1932C>T (p.Ala644=) single nucleotide variant Cardiovascular phenotype [RCV002411372]|Glycogen storage disease, type II [RCV000557350]|not specified [RCV000437919] Chr17:80112919 [GRCh38]
Chr17:78086718 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2445C>T (p.Asn815=) single nucleotide variant Glycogen storage disease, type II [RCV000934357]|not provided [RCV001721436] Chr17:80117713 [GRCh38]
Chr17:78091512 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1882G>T (p.Val628Leu) single nucleotide variant Glycogen storage disease, type II [RCV001835806]|not provided [RCV000445242] Chr17:80112705 [GRCh38]
Chr17:78086504 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1551+12C>A single nucleotide variant Glycogen storage disease, type II [RCV002062618]|not specified [RCV000424323] Chr17:80110852 [GRCh38]
Chr17:78084651 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.59C>G (p.Ser20Cys) single nucleotide variant Glycogen storage disease, type II [RCV001851081]|not provided [RCV000427881] Chr17:80104645 [GRCh38]
Chr17:78078444 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1755-18T>C single nucleotide variant Glycogen storage disease, type II [RCV002062331]|not provided [RCV000675232]|not specified [RCV000438385] Chr17:80112560 [GRCh38]
Chr17:78086359 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.297C>G (p.Thr99=) single nucleotide variant not specified [RCV000424655] Chr17:80104883 [GRCh38]
Chr17:78078682 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1758G>A (p.Ala586=) single nucleotide variant Cardiovascular phenotype [RCV002402216]|Glycogen storage disease, type II [RCV000555737]|not provided [RCV003333986]|not specified [RCV000424905] Chr17:80112581 [GRCh38]
Chr17:78086380 [GRCh37]
Chr17:17q25.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1755-7A>G single nucleotide variant Glycogen storage disease, type II [RCV000878207]|not specified [RCV000442844] Chr17:80112571 [GRCh38]
Chr17:78086370 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) single nucleotide variant Glycogen storage disease, type II [RCV001584119]|not provided [RCV000728005]|not specified [RCV000428746] Chr17:80113309 [GRCh38]
Chr17:78087108 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) single nucleotide variant Glycogen storage disease, type II [RCV000631082]|not provided [RCV000432229] Chr17:80105809 [GRCh38]
Chr17:78079608 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2736G>A (p.Ala912=) single nucleotide variant Cardiovascular phenotype [RCV002436291]|Glycogen storage disease, type II [RCV001088082]|not provided [RCV000726791] Chr17:80118742 [GRCh38]
Chr17:78092541 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.-32-4G>A single nucleotide variant not specified [RCV000419677] Chr17:80104551 [GRCh38]
Chr17:78078350 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.972G>A (p.Pro324=) single nucleotide variant Cardiovascular phenotype [RCV002379329]|Glycogen storage disease, type II [RCV000872499]|not specified [RCV000425940] Chr17:80108306 [GRCh38]
Chr17:78082105 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.-116C>T single nucleotide variant Glycogen storage disease, type II [RCV001796971]|not provided [RCV001703848] Chr17:80101807 [GRCh38]
Chr17:78075606 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.834G>A (p.Leu278=) single nucleotide variant Cardiovascular phenotype [RCV002436331]|Glycogen storage disease, type II [RCV001414164]|not provided [RCV000730476]|not specified [RCV000443970] Chr17:80107698 [GRCh38]
Chr17:78081497 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.2041-17C>T single nucleotide variant Glycogen storage disease, type II [RCV002065038]|not specified [RCV000444091] Chr17:80113201 [GRCh38]
Chr17:78087000 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1092G>A (p.Pro364=) single nucleotide variant Glycogen storage disease, type II [RCV001408795]|not specified [RCV000430268] Chr17:80108505 [GRCh38]
Chr17:78082304 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2166C>T (p.Thr722=) single nucleotide variant Cardiovascular phenotype [RCV002429391]|Glycogen storage disease, type II [RCV001473691]|not specified [RCV000430359] Chr17:80113343 [GRCh38]
Chr17:78087142 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2571G>T (p.Leu857=) single nucleotide variant Cardiovascular phenotype [RCV002450993]|Glycogen storage disease, type II [RCV001001793]|not provided [RCV000588826] Chr17:80118282 [GRCh38]
Chr17:78092081 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.-37A>G single nucleotide variant not specified [RCV000444495] Chr17:80101886 [GRCh38]
Chr17:78075685 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) single nucleotide variant Glycogen storage disease, type II [RCV000675111]|not provided [RCV000439307] Chr17:80117094 [GRCh38]
Chr17:78090893 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1754+17G>A single nucleotide variant Glycogen storage disease, type II [RCV002065039]|not specified [RCV000420561] Chr17:80112117 [GRCh38]
Chr17:78085916 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.867G>A (p.Ala289=) single nucleotide variant Cardiovascular phenotype [RCV002446700]|Glycogen storage disease, type II [RCV000954057]|not provided [RCV000430754] Chr17:80107808 [GRCh38]
Chr17:78081607 [GRCh37]
Chr17:17q25.3
likely benign
GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3 copy number gain See cases [RCV000448916] Chr17:77679924..78559726 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del) deletion not provided [RCV000481438] Chr17:80110787..80110801 [GRCh38]
Chr17:78084586..78084600 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1888+10_1888+11insC insertion Glycogen storage disease, type II [RCV002063813]|not provided [RCV000675233]|not specified [RCV000479968] Chr17:80112721..80112722 [GRCh38]
Chr17:78086520..78086521 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) single nucleotide variant Glycogen storage disease, type II [RCV001231709]|not provided [RCV000483867] Chr17:80108409 [GRCh38]
Chr17:78082208 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) single nucleotide variant Glycogen storage disease, type II [RCV000548878]|not provided [RCV000485701] Chr17:80113246 [GRCh38]
Chr17:78087045 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) single nucleotide variant Glycogen storage disease, type II [RCV000464818]|not provided [RCV001782927] Chr17:80108495 [GRCh38]
Chr17:78082294 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.858+17_858+23del microsatellite Glycogen storage disease, type II [RCV001271973]|not provided [RCV001591127]|not specified [RCV001824798] Chr17:80107728..80107734 [GRCh38]
Chr17:78081527..78081533 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1552-3C>G single nucleotide variant Cardiovascular phenotype [RCV003380590]|Glycogen storage disease, type II [RCV000593914]|not provided [RCV000479616] Chr17:80110938 [GRCh38]
Chr17:78084737 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) single nucleotide variant Glycogen storage disease, type II [RCV001065031]|not provided [RCV000486923] Chr17:80117075 [GRCh38]
Chr17:78090874 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) single nucleotide variant Glycogen storage disease, type II [RCV001265224]|not provided [RCV000479891] Chr17:80108396 [GRCh38]
Chr17:78082195 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2061del (p.Phe687fs) deletion Glycogen storage disease, type II [RCV001265220]|not provided [RCV000487249] Chr17:80113238 [GRCh38]
Chr17:78087037 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) single nucleotide variant Glycogen storage disease, type II [RCV000691429]|not provided [RCV000497650] Chr17:80110010 [GRCh38]
Chr17:78083809 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) single nucleotide variant Glycogen storage disease, type II [RCV000670143]|not provided [RCV000498314] Chr17:80108305 [GRCh38]
Chr17:78082104 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) single nucleotide variant Glycogen storage disease, type II [RCV000664955]|not provided [RCV000493446] Chr17:80117047 [GRCh38]
Chr17:78090846 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) single nucleotide variant Cardiovascular phenotype [RCV003302728]|Glycogen storage disease, type II [RCV001785637]|not provided [RCV000756197] Chr17:80110825 [GRCh38]
Chr17:78084624 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1504A>G (p.Met502Val) single nucleotide variant Glycogen storage disease, type II [RCV000526491]|not provided [RCV000726935]|not specified [RCV000506584] Chr17:80110793 [GRCh38]
Chr17:78084592 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) single nucleotide variant Glycogen storage disease, type II [RCV000670619]|not provided [RCV000492864] Chr17:80109996 [GRCh38]
Chr17:78083795 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1626C>G (p.Pro542=) single nucleotide variant Glycogen storage disease, type II [RCV001205756]|not provided [RCV000493261] Chr17:80111015 [GRCh38]
Chr17:78084814 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000152.5(GAA):c.2647-1_2648del deletion Glycogen storage disease, type II [RCV000669171] Chr17:80118651..80118653 [GRCh38]
Chr17:78092450..78092452 [GRCh37]
Chr17:17q25.3
likely pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_000152.5(GAA):c.755dup (p.Pro253fs) duplication Glycogen storage disease, type II [RCV000669528] Chr17:80107618..80107619 [GRCh38]
Chr17:78081417..78081418 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.342del (p.Lys114fs) deletion Glycogen storage disease, type II [RCV000631063] Chr17:80104928 [GRCh38]
Chr17:78078727 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1750C>A (p.His584Asn) single nucleotide variant Glycogen storage disease, type II [RCV000631064] Chr17:80112096 [GRCh38]
Chr17:78085895 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) single nucleotide variant Glycogen storage disease, type II [RCV000631067]|not provided [RCV003129950] Chr17:80110027 [GRCh38]
Chr17:78083826 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) single nucleotide variant Glycogen storage disease, type II [RCV000631068]|not provided [RCV003480721] Chr17:80118764 [GRCh38]
Chr17:78092563 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) single nucleotide variant Glycogen storage disease, type II [RCV000631092]|not provided [RCV001756041] Chr17:80109975 [GRCh38]
Chr17:78083774 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) single nucleotide variant Cardiovascular phenotype [RCV002431856]|Glycogen storage disease, type II [RCV000631055] Chr17:80116985 [GRCh38]
Chr17:78090784 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.2655C>T (p.Ile885=) single nucleotide variant Cardiovascular phenotype [RCV002431857]|Glycogen storage disease, type II [RCV000631112] Chr17:80118661 [GRCh38]
Chr17:78092460 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2751C>T (p.Leu917=) single nucleotide variant Cardiovascular phenotype [RCV002438646]|Glycogen storage disease, type II [RCV000631113] Chr17:80118757 [GRCh38]
Chr17:78092556 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.-33+17C>T single nucleotide variant not specified [RCV000601855] Chr17:80101907 [GRCh38]
Chr17:78075706 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2481+6T>C single nucleotide variant Glycogen storage disease, type II [RCV000529299] Chr17:80117755 [GRCh38]
Chr17:78091554 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) single nucleotide variant Glycogen storage disease, type II [RCV000530459] Chr17:80110035 [GRCh38]
Chr17:78083834 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) single nucleotide variant Cardiovascular phenotype [RCV002456047]|Glycogen storage disease, type II [RCV000530517]|not provided [RCV001770411]|not specified [RCV003235273] Chr17:80117723 [GRCh38]
Chr17:78091522 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) single nucleotide variant Glycogen storage disease, type II [RCV000531440]|not provided [RCV003139753] Chr17:80107804 [GRCh38]
Chr17:78081603 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1375G>C (p.Asp459His) single nucleotide variant Glycogen storage disease, type II [RCV000698293]|not provided [RCV000597199]|not specified [RCV003323624] Chr17:80109993 [GRCh38]
Chr17:78083792 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1860C>T (p.Ser620=) single nucleotide variant Cardiovascular phenotype [RCV002413677]|Glycogen storage disease, type II [RCV001089227]|not provided [RCV000596256] Chr17:80112683 [GRCh38]
Chr17:78086482 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.663C>G (p.Ile221Met) single nucleotide variant Glycogen storage disease, type II [RCV000631062] Chr17:80105865 [GRCh38]
Chr17:78079664 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.787C>T (p.His263Tyr) single nucleotide variant Glycogen storage disease, type II [RCV000631071] Chr17:80107651 [GRCh38]
Chr17:78081450 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) single nucleotide variant Glycogen storage disease, type II [RCV000631074] Chr17:80108316 [GRCh38]
Chr17:78082115 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) single nucleotide variant Glycogen storage disease, type II [RCV000631091]|not provided [RCV002292572] Chr17:80104705 [GRCh38]
Chr17:78078504 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1884G>C (p.Val628=) single nucleotide variant Glycogen storage disease, type II [RCV001080321]|not provided [RCV000596871] Chr17:80112707 [GRCh38]
Chr17:78086506 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) single nucleotide variant Glycogen storage disease, type II [RCV002483587]|not provided [RCV000596844] Chr17:80105046 [GRCh38]
Chr17:78078845 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) microsatellite Glycogen storage disease, type II [RCV000631056] Chr17:80108817..80108819 [GRCh38]
Chr17:78082616..78082618 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) single nucleotide variant Glycogen storage disease, type II [RCV000631095] Chr17:80108734 [GRCh38]
Chr17:78082533 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) single nucleotide variant Glycogen storage disease, type II [RCV000631096] Chr17:80112983 [GRCh38]
Chr17:78086782 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1245G>A (p.Thr415=) single nucleotide variant Cardiovascular phenotype [RCV002388000]|Glycogen storage disease, type II [RCV000631114] Chr17:80108747 [GRCh38]
Chr17:78082546 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) single nucleotide variant Glycogen storage disease, type II [RCV000812454]|not provided [RCV000595049] Chr17:80112580 [GRCh38]
Chr17:78086379 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) single nucleotide variant Glycogen storage disease, type II [RCV000535983]|not provided [RCV001783029] Chr17:80108603 [GRCh38]
Chr17:78082402 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2523G>C (p.Met841Ile) single nucleotide variant Glycogen storage disease, type II [RCV002530992]|not provided [RCV000595586] Chr17:80118234 [GRCh38]
Chr17:78092033 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) single nucleotide variant GAA-related condition [RCV003411583]|Glycogen storage disease, type II [RCV000672387] Chr17:80112920 [GRCh38]
Chr17:78086719 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) single nucleotide variant Glycogen storage disease, type II [RCV000537422] Chr17:80104617 [GRCh38]
Chr17:78078416 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1488G>A (p.Leu496=) single nucleotide variant Cardiovascular phenotype [RCV002395288]|Glycogen storage disease, type II [RCV000538005] Chr17:80110777 [GRCh38]
Chr17:78084576 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1637-12C>T single nucleotide variant Glycogen storage disease, type II [RCV002065350]|not specified [RCV000606143] Chr17:80111971 [GRCh38]
Chr17:78085770 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC insertion Glycogen storage disease, type II [RCV000672349] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2100C>T (p.Thr700=) single nucleotide variant Glycogen storage disease, type II [RCV001479316]|not specified [RCV000602770] Chr17:80113277 [GRCh38]
Chr17:78087076 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-17C>A single nucleotide variant Glycogen storage disease, type II [RCV002064301]|not specified [RCV000601524] Chr17:80113201 [GRCh38]
Chr17:78087000 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) single nucleotide variant Glycogen storage disease, type II [RCV001247458]|not provided [RCV000595679] Chr17:80108775 [GRCh38]
Chr17:78082574 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1551+42G>A single nucleotide variant not provided [RCV001637095]|not specified [RCV000594177] Chr17:80110882 [GRCh38]
Chr17:78084681 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) single nucleotide variant Glycogen storage disease, type II [RCV000631066]|not provided [RCV000594745] Chr17:80105131 [GRCh38]
Chr17:78078930 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.692+17G>C single nucleotide variant Glycogen storage disease, type II [RCV001289680]|not provided [RCV000675219]|not specified [RCV000602251] Chr17:80105911 [GRCh38]
Chr17:78079710 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1665C>G (p.Ala555=) single nucleotide variant Cardiovascular phenotype [RCV003301280] Chr17:80112011 [GRCh38]
Chr17:78085810 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2040+19C>T single nucleotide variant not specified [RCV000602531] Chr17:80113046 [GRCh38]
Chr17:78086845 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC insertion Glycogen storage disease, type II [RCV000631073] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.692+5G>T single nucleotide variant Glycogen storage disease, type II [RCV000631076]|not provided [RCV001784204] Chr17:80105899 [GRCh38]
Chr17:78079698 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) single nucleotide variant Glycogen storage disease, type II [RCV000631078] Chr17:80117008 [GRCh38]
Chr17:78090807 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) single nucleotide variant Glycogen storage disease, type II [RCV000631059] Chr17:80104933 [GRCh38]
Chr17:78078732 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) single nucleotide variant Glycogen storage disease, type II [RCV000631069] Chr17:80112699 [GRCh38]
Chr17:78086498 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) single nucleotide variant Glycogen storage disease, type II [RCV000631075] Chr17:80119305 [GRCh38]
Chr17:78093104 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) single nucleotide variant Glycogen storage disease, type II [RCV000631057] Chr17:80112935 [GRCh38]
Chr17:78086734 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) single nucleotide variant Glycogen storage disease, type II [RCV000631098] Chr17:80110014 [GRCh38]
Chr17:78083813 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.108G>C (p.Leu36=) single nucleotide variant Glycogen storage disease, type II [RCV002529717]|not specified [RCV000614933] Chr17:80104694 [GRCh38]
Chr17:78078493 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1437+20G>A single nucleotide variant Glycogen storage disease, type II [RCV002531570]|not specified [RCV000614969] Chr17:80110075 [GRCh38]
Chr17:78083874 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2820G>A (p.Ser940=) single nucleotide variant Cardiovascular phenotype [RCV003380636]|Glycogen storage disease, type II [RCV001395863]|not specified [RCV000615088] Chr17:80119292 [GRCh38]
Chr17:78093091 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.762G>A (p.Ser254=) single nucleotide variant Cardiovascular phenotype [RCV002395572]|Glycogen storage disease, type II [RCV000631108]|not provided [RCV001697548] Chr17:80107626 [GRCh38]
Chr17:78081425 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) single nucleotide variant Glycogen storage disease, type II [RCV000539677] Chr17:80112642 [GRCh38]
Chr17:78086441 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-317C>T single nucleotide variant not specified [RCV000609813] Chr17:80101606 [GRCh38]
Chr17:78075405 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.715C>T (p.Leu239=) single nucleotide variant Cardiovascular phenotype [RCV002367776]|Glycogen storage disease, type II [RCV000540781] Chr17:80107579 [GRCh38]
Chr17:78081378 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) single nucleotide variant Glycogen storage disease, type II [RCV000541023] Chr17:80112099 [GRCh38]
Chr17:78085898 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2025C>T (p.Asn675=) single nucleotide variant Glycogen storage disease, type II [RCV001459950]|not specified [RCV000615566] Chr17:80113012 [GRCh38]
Chr17:78086811 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) single nucleotide variant Glycogen storage disease, type II [RCV000625693] Chr17:80104810 [GRCh38]
Chr17:78078609 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.780C>T (p.Leu260=) single nucleotide variant Cardiovascular phenotype [RCV002413749]|Glycogen storage disease, type II [RCV001423352]|not provided [RCV000908570]|not specified [RCV000607369] Chr17:80107644 [GRCh38]
Chr17:78081443 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1324G>A (p.Val442Met) single nucleotide variant Glycogen storage disease, type II [RCV000668689]|not provided [RCV000594193] Chr17:80108826 [GRCh38]
Chr17:78082625 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1130del (p.Gly377fs) deletion Glycogen storage disease, type II [RCV001249090]|not provided [RCV000596780] Chr17:80108540 [GRCh38]
Chr17:78082339 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1153del (p.Arg385fs) deletion Glycogen storage disease, type II [RCV001265228]|not provided [RCV000596835] Chr17:80108564 [GRCh38]
Chr17:78082363 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.858+2T>A single nucleotide variant Glycogen storage disease, type II [RCV000586360] Chr17:80107724 [GRCh38]
Chr17:78081523 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2799+19G>A single nucleotide variant Glycogen storage disease, type II [RCV002062833]|not provided [RCV001704727] Chr17:80118824 [GRCh38]
Chr17:78092623 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.2040+17G>A single nucleotide variant Glycogen storage disease, type II [RCV002062834]|not specified [RCV000610426] Chr17:80113044 [GRCh38]
Chr17:78086843 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT indel Glycogen storage disease, type II [RCV002498928]|not specified [RCV000610465] Chr17:80107730..80107732 [GRCh38]
Chr17:78081529..78081531 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.-104C>T single nucleotide variant not specified [RCV000613262] Chr17:80101819 [GRCh38]
Chr17:78075618 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.-32-5C>T single nucleotide variant not provided [RCV001712622] Chr17:80104550 [GRCh38]
Chr17:78078349 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1803G>A (p.Ser601=) single nucleotide variant Cardiovascular phenotype [RCV003159738]|Glycogen storage disease, type II [RCV000524831] Chr17:80112626 [GRCh38]
Chr17:78086425 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1437+19G>A single nucleotide variant Glycogen storage disease, type II [RCV002064308]|not specified [RCV000608166] Chr17:80110074 [GRCh38]
Chr17:78083873 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) single nucleotide variant Cardiovascular phenotype [RCV002404646]|Glycogen storage disease, type II [RCV001081315]|not provided [RCV000730586] Chr17:80111018 [GRCh38]
Chr17:78084817 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1636+8C>T single nucleotide variant Glycogen storage disease, type II [RCV000960396]|not specified [RCV000616783] Chr17:80111033 [GRCh38]
Chr17:78084832 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) single nucleotide variant Glycogen storage disease, type II [RCV000525570] Chr17:80104945 [GRCh38]
Chr17:78078744 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu) single nucleotide variant Glycogen storage disease, type II [RCV003238171] Chr17:80117081 [GRCh38]
Chr17:78090880 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.858+14C>T single nucleotide variant Glycogen storage disease, type II [RCV002065442]|not specified [RCV000608190] Chr17:80107736 [GRCh38]
Chr17:78081535 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) single nucleotide variant Glycogen storage disease, type II [RCV000527097] Chr17:80104617 [GRCh38]
Chr17:78078416 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.687C>T (p.Arg229=) single nucleotide variant Glycogen storage disease, type II [RCV000527930]|not provided [RCV003144318] Chr17:80105889 [GRCh38]
Chr17:78079688 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1872C>T (p.Leu624=) single nucleotide variant Cardiovascular phenotype [RCV002413699]|Glycogen storage disease, type II [RCV000960748]|not specified [RCV000611074] Chr17:80112695 [GRCh38]
Chr17:78086494 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-4G>T single nucleotide variant Glycogen storage disease, type II [RCV000528470]|not provided [RCV000732711] Chr17:80113214 [GRCh38]
Chr17:78087013 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2800-15CT[3] microsatellite Glycogen storage disease, type II [RCV001580525]|not provided [RCV000732109]|not specified [RCV000608615] Chr17:80119257..80119258 [GRCh38]
Chr17:78093056..78093057 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2154C>T (p.Val718=) single nucleotide variant Glycogen storage disease, type II [RCV000529944] Chr17:80113331 [GRCh38]
Chr17:78087130 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.969G>T (p.Gln323His) single nucleotide variant Glycogen storage disease, type II [RCV000530125] Chr17:80108303 [GRCh38]
Chr17:78082102 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.711G>A (p.Ala237=) single nucleotide variant Cardiovascular phenotype [RCV002367775]|Glycogen storage disease, type II [RCV000530651]|not provided [RCV000591487] Chr17:80107575 [GRCh38]
Chr17:78081374 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) single nucleotide variant Glycogen storage disease, type II [RCV000631084] Chr17:80109961 [GRCh38]
Chr17:78083760 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) single nucleotide variant Glycogen storage disease, type II [RCV000631087]|not provided [RCV003129951] Chr17:80105118 [GRCh38]
Chr17:78078917 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) single nucleotide variant Glycogen storage disease, type II [RCV000631054] Chr17:80112073 [GRCh38]
Chr17:78085872 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) single nucleotide variant Glycogen storage disease, type II [RCV000631100] Chr17:80113232 [GRCh38]
Chr17:78087031 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) single nucleotide variant Glycogen storage disease, type II [RCV000531988] Chr17:80104635 [GRCh38]
Chr17:78078434 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.956-5_957del deletion Glycogen storage disease, type II [RCV003317708] Chr17:80108284..80108290 [GRCh38]
Chr17:78082083..78082089 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2647-6G>T single nucleotide variant Glycogen storage disease, type II [RCV000631102] Chr17:80118647 [GRCh38]
Chr17:78092446 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.36C>T (p.Leu12=) single nucleotide variant Cardiovascular phenotype [RCV002358756]|Glycogen storage disease, type II [RCV000631115] Chr17:80104622 [GRCh38]
Chr17:78078421 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1438-9G>A single nucleotide variant Glycogen storage disease, type II [RCV001087242]|not provided [RCV000727404]|not specified [RCV000594051] Chr17:80110718 [GRCh38]
Chr17:78084517 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.212A>G (p.His71Arg) single nucleotide variant Glycogen storage disease, type II [RCV000660562]|not provided [RCV000597148] Chr17:80104798 [GRCh38]
Chr17:78078597 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) duplication Glycogen storage disease, type II [RCV000672252] Chr17:80112635..80112636 [GRCh38]
Chr17:78086434..78086435 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) single nucleotide variant Glycogen storage disease, type II [RCV000534401] Chr17:80118746 [GRCh38]
Chr17:78092545 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) single nucleotide variant Glycogen storage disease, type II [RCV000534884] Chr17:80117062 [GRCh38]
Chr17:78090861 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2274C>T (p.Ala758=) single nucleotide variant Cardiovascular phenotype [RCV002448615]|Glycogen storage disease, type II [RCV000536270] Chr17:80117052 [GRCh38]
Chr17:78090851 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) single nucleotide variant Glycogen storage disease, type II [RCV000536776]|not provided [RCV003144319]|not specified [RCV003235274] Chr17:80107645 [GRCh38]
Chr17:78081444 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2521A>G (p.Met841Val) single nucleotide variant Cardiovascular phenotype [RCV002456048]|Glycogen storage disease, type II [RCV000536887] Chr17:80118232 [GRCh38]
Chr17:78092031 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1438-2A>G single nucleotide variant Glycogen storage disease, type II [RCV000631061] Chr17:80110725 [GRCh38]
Chr17:78084524 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) single nucleotide variant Glycogen storage disease, type II [RCV000631053] Chr17:80118738 [GRCh38]
Chr17:78092537 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1743C>T (p.Ile581=) single nucleotide variant Cardiovascular phenotype [RCV003302985]|Glycogen storage disease, type II [RCV000631101] Chr17:80112089 [GRCh38]
Chr17:78085888 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.216C>T (p.Pro72=) single nucleotide variant Glycogen storage disease, type II [RCV001089244]|not provided [RCV000728964] Chr17:80104802 [GRCh38]
Chr17:78078601 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1914G>A (p.Gly638=) single nucleotide variant Glycogen storage disease, type II [RCV000631105] Chr17:80112901 [GRCh38]
Chr17:78086700 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.393C>G (p.Pro131=) single nucleotide variant Glycogen storage disease, type II [RCV000631116] Chr17:80104979 [GRCh38]
Chr17:78078778 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1552-14C>T single nucleotide variant Glycogen storage disease, type II [RCV001123715]|not provided [RCV001704699]|not specified [RCV003230552] Chr17:80110927 [GRCh38]
Chr17:78084726 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q25.3(chr17:78005894-78686171)x3 copy number gain See cases [RCV000512155] Chr17:78005894..78686171 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg) single nucleotide variant Glycogen storage disease, type II [RCV001854060]|not provided [RCV000596654] Chr17:80118251 [GRCh38]
Chr17:78092050 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1692del (p.Leu565fs) deletion Glycogen storage disease, type II [RCV001265219]|Inborn genetic diseases [RCV000622656] Chr17:80112036 [GRCh38]
Chr17:78085835 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NC_000017.11:g.(?_80104542)_(80105914_?)del deletion Glycogen storage disease, type II [RCV000631118] Chr17:80104542..80105914 [GRCh38]
Chr17:78078341..78079713 [GRCh37]
Chr17:17q25.3
pathogenic
NC_000017.11:g.(?_80107537)_(80113386_?)del deletion Glycogen storage disease, type II [RCV000631119] Chr17:80107537..80113386 [GRCh38]
Chr17:78081336..78087185 [GRCh37]
Chr17:17q25.3
likely pathogenic
NC_000017.10:g.(?_78078341)_(78093150_?)dup duplication Glycogen storage disease, type II [RCV000631120] Chr17:80104542..80119351 [GRCh38]
Chr17:78078341..78093150 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1075+20C>T single nucleotide variant Glycogen storage disease, type II [RCV002064156]|not specified [RCV000600772] Chr17:80108429 [GRCh38]
Chr17:78082228 [GRCh37]
Chr17:17q25.3
likely benign
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) single nucleotide variant Glycogen storage disease, type II [RCV000631079] Chr17:80104905 [GRCh38]
Chr17:78078704 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.93_95del (p.Leu32del) deletion Glycogen storage disease, type II [RCV000631080] Chr17:80104677..80104679 [GRCh38]
Chr17:78078476..78078478 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) single nucleotide variant Glycogen storage disease, type II [RCV000631088] Chr17:80118767 [GRCh38]
Chr17:78092566 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) single nucleotide variant Glycogen storage disease, type II [RCV000631089] Chr17:80117001 [GRCh38]
Chr17:78090800 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) single nucleotide variant Glycogen storage disease, type II [RCV000631093]|not provided [RCV003133417] Chr17:80113227 [GRCh38]
Chr17:78087026 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.716del (p.Leu239fs) deletion Glycogen storage disease, type II [RCV000672913]|not provided [RCV003140072] Chr17:80107580 [GRCh38]
Chr17:78081379 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2799+2C>A single nucleotide variant Glycogen storage disease, type II [RCV000673050] Chr17:80118807 [GRCh38]
Chr17:78092606 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1888+49_1888+72del deletion Glycogen storage disease, type II [RCV000673185] Chr17:80112758..80112781 [GRCh38]
Chr17:78086557..78086580 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) single nucleotide variant Glycogen storage disease, type II [RCV001379709]|not provided [RCV000658795] Chr17:80112990 [GRCh38]
Chr17:78086789 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.376del (p.Trp126fs) deletion Glycogen storage disease, type II [RCV000672759] Chr17:80104962 [GRCh38]
Chr17:78078761 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2757del (p.Asn919fs) deletion Glycogen storage disease, type II [RCV000664646] Chr17:80118763 [GRCh38]
Chr17:78092562 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2040+1del deletion Glycogen storage disease, type II [RCV000664763] Chr17:80113027 [GRCh38]
Chr17:78086826 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1551+1G>C single nucleotide variant Glycogen storage disease, type II [RCV000670717]|not provided [RCV001784264] Chr17:80110841 [GRCh38]
Chr17:78084640 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) single nucleotide variant Glycogen storage disease, type II [RCV000672501] Chr17:80118752 [GRCh38]
Chr17:78092551 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.768dup (p.Ile257fs) duplication Glycogen storage disease, type II [RCV000672554] Chr17:80107631..80107632 [GRCh38]
Chr17:78081430..78081431 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1888+51_1888+74del deletion Glycogen storage disease, type II [RCV000671181] Chr17:80112761..80112784 [GRCh38]
Chr17:78086560..78086583 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.-32-1G>C single nucleotide variant Glycogen storage disease, type II [RCV000673571] Chr17:80104554 [GRCh38]
Chr17:78078353 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) single nucleotide variant Glycogen storage disease, type II [RCV000671579]|not provided [RCV001547359]|not specified [RCV002265849] Chr17:80117098 [GRCh38]
Chr17:78090897 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1551+1G>T single nucleotide variant Glycogen storage disease, type II [RCV000671915] Chr17:80110841 [GRCh38]
Chr17:78084640 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) single nucleotide variant Glycogen storage disease, type II [RCV000665079]|not provided [RCV002289951] Chr17:80108323 [GRCh38]
Chr17:78082122 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2040+69A>G single nucleotide variant Glycogen storage disease, type II [RCV000667068] Chr17:80113096 [GRCh38]
Chr17:78086895 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.379_380del (p.Cys127fs) deletion Glycogen storage disease, type II [RCV000668069]|not provided [RCV000731154] Chr17:80104964..80104965 [GRCh38]
Chr17:78078763..78078764 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) single nucleotide variant Glycogen storage disease, type II [RCV000670915]|not provided [RCV001784266] Chr17:80112056 [GRCh38]
Chr17:78085855 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) microsatellite Glycogen storage disease, type II [RCV000665533] Chr17:80104976..80104977 [GRCh38]
Chr17:78078775..78078776 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) single nucleotide variant Glycogen storage disease, type II [RCV000668178] Chr17:80119325 [GRCh38]
Chr17:78093124 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) single nucleotide variant Glycogen storage disease, type II [RCV000671598]|not provided [RCV003140070] Chr17:80113351 [GRCh38]
Chr17:78087150 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1437+1G>A single nucleotide variant Glycogen storage disease, type II [RCV000671773]|not provided [RCV001592852] Chr17:80110056 [GRCh38]
Chr17:78083855 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) single nucleotide variant Glycogen storage disease, type II [RCV000665680] Chr17:80112680 [GRCh38]
Chr17:78086479 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2853del (p.Trp951fs) deletion Glycogen storage disease, type II [RCV000668505] Chr17:80119324 [GRCh38]
Chr17:78093123 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2189+1G>T single nucleotide variant Glycogen storage disease, type II [RCV000674456] Chr17:80113367 [GRCh38]
Chr17:78087166 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) single nucleotide variant Glycogen storage disease, type II [RCV000666923]|not provided [RCV003144469] Chr17:80112594 [GRCh38]
Chr17:78086393 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) deletion Glycogen storage disease, type II [RCV000672761] Chr17:80113312..80113313 [GRCh38]
Chr17:78087111..78087112 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) duplication Glycogen storage disease, type II [RCV000673060] Chr17:80109947..80109948 [GRCh38]
Chr17:78083746..78083747 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1076-1G>A single nucleotide variant Glycogen storage disease, type II [RCV000666182] Chr17:80108488 [GRCh38]
Chr17:78082287 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) single nucleotide variant Glycogen storage disease, type II [RCV000673492] Chr17:80104827 [GRCh38]
Chr17:78078626 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.692+2T>C single nucleotide variant Glycogen storage disease, type II [RCV000669406] Chr17:80105896 [GRCh38]
Chr17:78079695 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2706del (p.Lys903fs) deletion Glycogen storage disease, type II [RCV000669955] Chr17:80118712 [GRCh38]
Chr17:78092511 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1165del (p.Glu389fs) deletion Glycogen storage disease, type II [RCV000673856] Chr17:80108577 [GRCh38]
Chr17:78082376 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) single nucleotide variant Glycogen storage disease, type II [RCV000667333] Chr17:80119331 [GRCh38]
Chr17:78093130 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) deletion Glycogen storage disease, type II [RCV000667381] Chr17:80113224..80113241 [GRCh38]
Chr17:78087023..78087040 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.533G>A (p.Arg178His) single nucleotide variant Glycogen storage disease, type II [RCV000670700]|not provided [RCV003129985]|not specified [RCV001805792] Chr17:80105119 [GRCh38]
Chr17:78078918 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2647-20T>G single nucleotide variant Glycogen storage disease, type II [RCV000671068]|not provided [RCV001816675] Chr17:80118633 [GRCh38]
Chr17:78092432 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) duplication Glycogen storage disease, type II [RCV000665233] Chr17:80118327..80118328 [GRCh38]
Chr17:78092126..78092127 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.55del (p.Val19fs) deletion Glycogen storage disease, type II [RCV000670780] Chr17:80104641 [GRCh38]
Chr17:78078440 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) single nucleotide variant Glycogen storage disease, type II [RCV000667612]|not provided [RCV001784249] Chr17:80117675 [GRCh38]
Chr17:78091474 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) single nucleotide variant Glycogen storage disease, type II [RCV000670955] Chr17:80119330 [GRCh38]
Chr17:78093129 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2300del (p.Phe767fs) deletion Glycogen storage disease, type II [RCV000671142]|not provided [RCV003140068] Chr17:80117077 [GRCh38]
Chr17:78090876 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) single nucleotide variant Glycogen storage disease, type II [RCV000667808] Chr17:80117092 [GRCh38]
Chr17:78090891 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) single nucleotide variant Glycogen storage disease, type II [RCV000673032] Chr17:80110785 [GRCh38]
Chr17:78084584 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro) single nucleotide variant Glycogen storage disease, type II [RCV000666112] Chr17:80118750 [GRCh38]
Chr17:78092549 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) deletion Glycogen storage disease, type II [RCV000666330] Chr17:80105043..80105048 [GRCh38]
Chr17:78078842..78078847 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) single nucleotide variant Glycogen storage disease, type II [RCV000671718]|not provided [RCV001785699] Chr17:80108512 [GRCh38]
Chr17:78082311 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) deletion Glycogen storage disease, type II [RCV000667968] Chr17:80108744..80108746 [GRCh38]
Chr17:78082543..78082545 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2040+16C>T single nucleotide variant Glycogen storage disease, type II [RCV000668010] Chr17:80113043 [GRCh38]
Chr17:78086842 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) single nucleotide variant Glycogen storage disease, type II [RCV000668100] Chr17:80108718 [GRCh38]
Chr17:78082517 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) deletion Glycogen storage disease, type II [RCV000668186] Chr17:80105832..80105843 [GRCh38]
Chr17:78079631..78079642 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1048G>A (p.Val350Met) single nucleotide variant Glycogen storage disease, type II [RCV000671932]|not provided [RCV001576168]|not specified [RCV002307586] Chr17:80108382 [GRCh38]
Chr17:78082181 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) single nucleotide variant Glycogen storage disease, type II [RCV000672072]|not provided [RCV001549927] Chr17:80107660 [GRCh38]
Chr17:78081459 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2482-5T>C single nucleotide variant Glycogen storage disease, type II [RCV000674569] Chr17:80118188 [GRCh38]
Chr17:78091987 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2647-7G>A single nucleotide variant Glycogen storage disease, type II [RCV000666077]|not provided [RCV001816669] Chr17:80118646 [GRCh38]
Chr17:78092445 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) microsatellite Glycogen storage disease, type II [RCV000674654]|not provided [RCV002223239] Chr17:80107572..80107573 [GRCh38]
Chr17:78081371..78081372 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) single nucleotide variant Glycogen storage disease, type II [RCV000666316] Chr17:80110050 [GRCh38]
Chr17:78083849 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2367dup (p.Pro790fs) duplication Glycogen storage disease, type II [RCV000674863] Chr17:80117634..80117635 [GRCh38]
Chr17:78091433..78091434 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) single nucleotide variant Glycogen storage disease, type II [RCV000674901]|not provided [RCV001507903] Chr17:80112965 [GRCh38]
Chr17:78086764 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) single nucleotide variant Glycogen storage disease, type II [RCV000674934] Chr17:80112015 [GRCh38]
Chr17:78085814 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) single nucleotide variant Glycogen storage disease, type II [RCV000665730] Chr17:80108782 [GRCh38]
Chr17:78082581 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) single nucleotide variant Glycogen storage disease, type II [RCV000672437]|not provided [RCV001784273] Chr17:80117014 [GRCh38]
Chr17:78090813 [GRCh37]
Chr17:17q25.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2190-29G>A single nucleotide variant not provided [RCV000675241] Chr17:80116939 [GRCh38]
Chr17:78090738 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.953T>A (p.Met318Lys) single nucleotide variant Glycogen storage disease, type II [RCV000675007] Chr17:80107894 [GRCh38]
Chr17:78081693 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.421C>A (p.Leu141Met) single nucleotide variant Glycogen storage disease, type II [RCV000665131] Chr17:80105007 [GRCh38]
Chr17:78078806 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC insertion Glycogen storage disease, type II [RCV000672843] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+5G>T single nucleotide variant Glycogen storage disease, type II [RCV000673997]|not provided [RCV003140073] Chr17:80105137 [GRCh38]
Chr17:78078936 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1195-1G>A single nucleotide variant Glycogen storage disease, type II [RCV000664532] Chr17:80108696 [GRCh38]
Chr17:78082495 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1552-2A>G single nucleotide variant Glycogen storage disease, type II [RCV000664623] Chr17:80110939 [GRCh38]
Chr17:78084738 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.448dup (p.Ala150fs) duplication Glycogen storage disease, type II [RCV000666612] Chr17:80105032..80105033 [GRCh38]
Chr17:78078831..78078832 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) single nucleotide variant Glycogen storage disease, type II [RCV000665881] Chr17:80112607 [GRCh38]
Chr17:78086406 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.258del (p.Asn87fs) deletion Glycogen storage disease, type II [RCV000666694] Chr17:80104838 [GRCh38]
Chr17:78078637 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) insertion Glycogen storage disease, type II [RCV000664743] Chr17:80107630..80107631 [GRCh38]
Chr17:78081429..78081430 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1754+21C>T single nucleotide variant Glycogen storage disease, type II [RCV000664749] Chr17:80112121 [GRCh38]
Chr17:78085920 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) single nucleotide variant Glycogen storage disease, type II [RCV000673414] Chr17:80118295 [GRCh38]
Chr17:78092094 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) single nucleotide variant Glycogen storage disease, type II [RCV000666389] Chr17:80108542 [GRCh38]
Chr17:78082341 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) duplication Glycogen storage disease, type II [RCV000667384] Chr17:80108793..80108794 [GRCh38]
Chr17:78082592..78082593 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2647-23del deletion Glycogen storage disease, type II [RCV000673541] Chr17:80118627 [GRCh38]
Chr17:78092426 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2161dup (p.Glu721fs) duplication Glycogen storage disease, type II [RCV000664981] Chr17:80113333..80113334 [GRCh38]
Chr17:78087132..78087133 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) single nucleotide variant Glycogen storage disease, type II [RCV000665047]|not provided [RCV001557095] Chr17:80112928 [GRCh38]
Chr17:78086727 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) single nucleotide variant Glycogen storage disease, type II [RCV000666648]|not provided [RCV001784239] Chr17:80112619 [GRCh38]
Chr17:78086418 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) single nucleotide variant Glycogen storage disease, type II [RCV000667659]|not provided [RCV001756129] Chr17:80113222 [GRCh38]
Chr17:78087021 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) deletion Glycogen storage disease, type II [RCV000667802] Chr17:80119283..80119291 [GRCh38]
Chr17:78093082..78093090 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) single nucleotide variant Elevated circulating creatine kinase concentration [RCV000678477]|Glycogen storage disease, type II [RCV001200874] Chr17:80104590 [GRCh38]
Chr17:78078389 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) single nucleotide variant Glycogen storage disease, type II [RCV000701656]|not provided [RCV001091540] Chr17:80118668 [GRCh38]
Chr17:78092467 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1552-14_1552-1del deletion Glycogen storage disease, type II [RCV000701657] Chr17:80110923..80110936 [GRCh38]
Chr17:78084722..78084735 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.109C>G (p.Leu37Val) single nucleotide variant Glycogen storage disease, type II [RCV000702245]|not provided [RCV001556663] Chr17:80104695 [GRCh38]
Chr17:78078494 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1882G>A (p.Val628Met) single nucleotide variant Glycogen storage disease, type II [RCV000699355] Chr17:80112705 [GRCh38]
Chr17:78086504 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) single nucleotide variant Glycogen storage disease, type II [RCV000685442] Chr17:80105038 [GRCh38]
Chr17:78078837 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) single nucleotide variant Cardiovascular phenotype [RCV003163099]|Glycogen storage disease, type II [RCV000685783]|not provided [RCV001541770] Chr17:80108700 [GRCh38]
Chr17:78082499 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) single nucleotide variant Glycogen storage disease, type II [RCV000704081] Chr17:80117726 [GRCh38]
Chr17:78091525 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) single nucleotide variant Glycogen storage disease, type II [RCV000692691]|not provided [RCV003144518]|not specified [RCV002469262] Chr17:80116999 [GRCh38]
Chr17:78090798 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) single nucleotide variant Glycogen storage disease, type II [RCV000704659]|not provided [RCV001759411] Chr17:80118216 [GRCh38]
Chr17:78092015 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) single nucleotide variant Glycogen storage disease, type II [RCV000690547] Chr17:80111020 [GRCh38]
Chr17:78084819 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1195-8G>A single nucleotide variant Glycogen storage disease, type II [RCV000691563] Chr17:80108689 [GRCh38]
Chr17:78082488 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2330_2331+4dup duplication Glycogen storage disease, type II [RCV000705785]|not provided [RCV001592906] Chr17:80117105..80117106 [GRCh38]
Chr17:78090904..78090905 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1194+6T>C single nucleotide variant Glycogen storage disease, type II [RCV000691888] Chr17:80108613 [GRCh38]
Chr17:78082412 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) single nucleotide variant Glycogen storage disease, type II [RCV000700164] Chr17:80113356 [GRCh38]
Chr17:78087155 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.43G>A (p.Val15Ile) single nucleotide variant Glycogen storage disease, type II [RCV000706241] Chr17:80104629 [GRCh38]
Chr17:78078428 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) single nucleotide variant Glycogen storage disease, type II [RCV000686125] Chr17:80109990 [GRCh38]
Chr17:78083789 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) single nucleotide variant Glycogen storage disease, type II [RCV000687301] Chr17:80104809 [GRCh38]
Chr17:78078608 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2190-10C>A single nucleotide variant Glycogen storage disease, type II [RCV000703929] Chr17:80116958 [GRCh38]
Chr17:78090757 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) single nucleotide variant Glycogen storage disease, type II [RCV000697549]|not provided [RCV003144541] Chr17:80108566 [GRCh38]
Chr17:78082365 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) single nucleotide variant Glycogen storage disease, type II [RCV000687635] Chr17:80105851 [GRCh38]
Chr17:78079650 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) single nucleotide variant Glycogen storage disease, type II [RCV000704307] Chr17:80104815 [GRCh38]
Chr17:78078614 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) single nucleotide variant Cardiovascular phenotype [RCV003165928]|Glycogen storage disease, type II [RCV000707045]|not provided [RCV001766565] Chr17:80107609 [GRCh38]
Chr17:78081408 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) single nucleotide variant Glycogen storage disease, type II [RCV000707519] Chr17:80112983 [GRCh38]
Chr17:78086782 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.250G>A (p.Val84Ile) single nucleotide variant Glycogen storage disease, type II [RCV000695540]|not provided [RCV000731464] Chr17:80104836 [GRCh38]
Chr17:78078635 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2381G>A (p.Arg794His) single nucleotide variant Cardiovascular phenotype [RCV003380677]|Glycogen storage disease, type II [RCV000688330]|not provided [RCV003144494] Chr17:80117649 [GRCh38]
Chr17:78091448 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) single nucleotide variant Glycogen storage disease, type II [RCV000690873] Chr17:80104663 [GRCh38]
Chr17:78078462 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2799+2C>T single nucleotide variant Glycogen storage disease, type II [RCV000695885]|not provided [RCV003144532] Chr17:80118807 [GRCh38]
Chr17:78092606 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) single nucleotide variant Glycogen storage disease, type II [RCV000688791] Chr17:80113317 [GRCh38]
Chr17:78087116 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) single nucleotide variant Glycogen storage disease, type II [RCV000693838] Chr17:80112934 [GRCh38]
Chr17:78086733 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) single nucleotide variant Glycogen storage disease, type II [RCV000688844]|not provided [RCV001570772] Chr17:80104872 [GRCh38]
Chr17:78078671 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2331G>A (p.Thr777=) single nucleotide variant Glycogen storage disease, type II [RCV000696307]|not provided [RCV001531869] Chr17:80117109 [GRCh38]
Chr17:78090908 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) single nucleotide variant Glycogen storage disease, type II [RCV000698352] Chr17:80107661 [GRCh38]
Chr17:78081460 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1124G>A (p.Arg375His) single nucleotide variant Glycogen storage disease, type II [RCV000694178]|not provided [RCV001507901] Chr17:80108537 [GRCh38]
Chr17:78082336 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.309C>T (p.Cys103=) single nucleotide variant Glycogen storage disease, type II [RCV000700064] Chr17:80104895 [GRCh38]
Chr17:78078694 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) single nucleotide variant Glycogen storage disease, type II [RCV000703411]|not provided [RCV003144561] Chr17:80108527 [GRCh38]
Chr17:78082326 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) single nucleotide variant Glycogen storage disease, type II [RCV000694467] Chr17:80118226 [GRCh38]
Chr17:78092025 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.858G>A (p.Thr286=) single nucleotide variant Glycogen storage disease, type II [RCV000694477] Chr17:80107722 [GRCh38]
Chr17:78081521 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) single nucleotide variant Glycogen storage disease, type II [RCV000703619] Chr17:80113359 [GRCh38]
Chr17:78087158 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2690C>G (p.Ala897Gly) single nucleotide variant not provided [RCV001545612] Chr17:80118696 [GRCh38]
Chr17:78092495 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000152.5(GAA):c.1069G>A (p.Val357Ile) single nucleotide variant Glycogen storage disease, type II [RCV002568905]|not provided [RCV001532361] Chr17:80108403 [GRCh38]
Chr17:78082202 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1662G>A (p.Ala554=) single nucleotide variant Cardiovascular phenotype [RCV002390906]|Glycogen storage disease, type II [RCV000916062] Chr17:80112008 [GRCh38]
Chr17:78085807 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1500G>A (p.Glu500=) single nucleotide variant Glycogen storage disease, type II [RCV000871762] Chr17:80110789 [GRCh38]
Chr17:78084588 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.692+38C>T single nucleotide variant not provided [RCV001678966] Chr17:80105932 [GRCh38]
Chr17:78079731 [GRCh37]
Chr17:17q25.3
benign
NC_000017.11:g.80101429C>T single nucleotide variant not provided [RCV001534429] Chr17:80101429 [GRCh38]
Chr17:78075228 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.765G>A (p.Gln255=) single nucleotide variant Glycogen storage disease, type II [RCV001404279] Chr17:80107629 [GRCh38]
Chr17:78081428 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.42C>G (p.Ala14=) single nucleotide variant Glycogen storage disease, type II [RCV001408332] Chr17:80104628 [GRCh38]
Chr17:78078427 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.956-84C>T single nucleotide variant not provided [RCV001666611] Chr17:80108206 [GRCh38]
Chr17:78082005 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2482-2A>G single nucleotide variant Glycogen storage disease, type II [RCV001582397] Chr17:80118191 [GRCh38]
Chr17:78091990 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2799+5G>A single nucleotide variant Glycogen storage disease, type II [RCV003307394] Chr17:80118810 [GRCh38]
Chr17:78092609 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.118C>G (p.Arg40Gly) single nucleotide variant Glycogen storage disease, type II [RCV001043854] Chr17:80104704 [GRCh38]
Chr17:78078503 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del) deletion Glycogen storage disease, type II [RCV003238172] Chr17:80112695..80112703 [GRCh38]
Chr17:78086494..78086502 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.701C>T (p.Thr234Met) single nucleotide variant Glycogen storage disease, type II [RCV001832749]|not provided [RCV001551208] Chr17:80107565 [GRCh38]
Chr17:78081364 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) single nucleotide variant Glycogen storage disease, type II [RCV000855786]|not provided [RCV002223962] Chr17:80108606 [GRCh38]
Chr17:78082405 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1195-2A>C single nucleotide variant Glycogen storage disease, type II [RCV001044684] Chr17:80108695 [GRCh38]
Chr17:78082494 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1637-138C>T single nucleotide variant not provided [RCV001549966] Chr17:80111845 [GRCh38]
Chr17:78085644 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1806C>A (p.Thr602=) single nucleotide variant Glycogen storage disease, type II [RCV000927937] Chr17:80112629 [GRCh38]
Chr17:78086428 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.966G>A (p.Leu322=) single nucleotide variant Glycogen storage disease, type II [RCV001432412] Chr17:80108300 [GRCh38]
Chr17:78082099 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.924C>T (p.His308=) single nucleotide variant Glycogen storage disease, type II [RCV001502256] Chr17:80107865 [GRCh38]
Chr17:78081664 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1068C>T (p.Asp356=) single nucleotide variant Cardiovascular phenotype [RCV002409280]|Glycogen storage disease, type II [RCV000964679] Chr17:80108402 [GRCh38]
Chr17:78082201 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1977G>A (p.Val659=) single nucleotide variant Cardiovascular phenotype [RCV002416162]|Glycogen storage disease, type II [RCV001448415] Chr17:80112964 [GRCh38]
Chr17:78086763 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1041C>T (p.Pro347=) single nucleotide variant Glycogen storage disease, type II [RCV000944197] Chr17:80108375 [GRCh38]
Chr17:78082174 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1053G>A (p.Val351=) single nucleotide variant Glycogen storage disease, type II [RCV001273036]|not provided [RCV000926127] Chr17:80108387 [GRCh38]
Chr17:78082186 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.546+7A>C single nucleotide variant Glycogen storage disease, type II [RCV000929040] Chr17:80105139 [GRCh38]
Chr17:78078938 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.252C>T (p.Val84=) single nucleotide variant Cardiovascular phenotype [RCV002427254]|Glycogen storage disease, type II [RCV000898789] Chr17:80104838 [GRCh38]
Chr17:78078637 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1518C>T (p.Phe506=) single nucleotide variant Glycogen storage disease, type II [RCV000983543] Chr17:80110807 [GRCh38]
Chr17:78084606 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1491C>T (p.Ala497=) single nucleotide variant Glycogen storage disease, type II [RCV001422089] Chr17:80110780 [GRCh38]
Chr17:78084579 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2754C>A (p.Ser918=) single nucleotide variant Glycogen storage disease, type II [RCV000983774] Chr17:80118760 [GRCh38]
Chr17:78092559 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter) single nucleotide variant Glycogen storage disease, type II [RCV001056322] Chr17:80113251 [GRCh38]
Chr17:78087050 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1754+1_1754+7del deletion Glycogen storage disease, type II [RCV001055165] Chr17:80112100..80112106 [GRCh38]
Chr17:78085899..78085905 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2332-40C>G single nucleotide variant not provided [RCV001581677] Chr17:80117560 [GRCh38]
Chr17:78091359 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr) single nucleotide variant Glycogen storage disease, type II [RCV001041506] Chr17:80108593 [GRCh38]
Chr17:78082392 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys) single nucleotide variant Glycogen storage disease, type II [RCV001058639]|not provided [RCV003145315] Chr17:80110957 [GRCh38]
Chr17:78084756 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.956-8C>A single nucleotide variant Glycogen storage disease, type II [RCV001071307] Chr17:80108282 [GRCh38]
Chr17:78082081 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys) single nucleotide variant Glycogen storage disease, type II [RCV001049991] Chr17:80110028 [GRCh38]
Chr17:78083827 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2307G>A (p.Leu769=) single nucleotide variant Glycogen storage disease, type II [RCV001052656] Chr17:80117085 [GRCh38]
Chr17:78090884 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.280C>A (p.Pro94Thr) single nucleotide variant Glycogen storage disease, type II [RCV001042908]|not provided [RCV003132157] Chr17:80104866 [GRCh38]
Chr17:78078665 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1377dup (p.Glu460fs) duplication Glycogen storage disease, type II [RCV001037604]|not provided [RCV001784574] Chr17:80109994..80109995 [GRCh38]
Chr17:78083793..78083794 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.311_313del (p.Glu104del) deletion Glycogen storage disease, type II [RCV001048776] Chr17:80104896..80104898 [GRCh38]
Chr17:78078695..78078697 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.8T>C (p.Val3Ala) single nucleotide variant Glycogen storage disease, type II [RCV001038315] Chr17:80104594 [GRCh38]
Chr17:78078393 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1650dup (p.Thr551fs) duplication Glycogen storage disease, type II [RCV001057872]|not provided [RCV001784610] Chr17:80111990..80111991 [GRCh38]
Chr17:78085789..78085790 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1952del (p.Gly651fs) deletion Glycogen storage disease, type II [RCV000780269]|not provided [RCV001784393] Chr17:80112937 [GRCh38]
Chr17:78086736 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1431del (p.Ile477fs) deletion Glycogen storage disease, type II [RCV000855787] Chr17:80110048 [GRCh38]
Chr17:78083847 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.858+24G>C single nucleotide variant Glycogen storage disease, type II [RCV000791247] Chr17:80107746 [GRCh38]
Chr17:78081545 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1952G>T (p.Gly651Val) single nucleotide variant not specified [RCV000781389] Chr17:80112939 [GRCh38]
Chr17:78086738 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.148_859-11del deletion Glycogen storage disease, type II [RCV000781388] Chr17:80104729..80107784 [GRCh38]
Chr17:78078528..78081583 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1327-229_1327-224del microsatellite not provided [RCV000841622] Chr17:80109706..80109711 [GRCh38]
Chr17:78083505..78083510 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.-103G>A single nucleotide variant not provided [RCV000828028] Chr17:80101820 [GRCh38]
Chr17:78075619 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1800C>T (p.Arg600=) single nucleotide variant Glycogen storage disease, type II [RCV001430514] Chr17:80112623 [GRCh38]
Chr17:78086422 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.936G>T (p.Leu312=) single nucleotide variant Glycogen storage disease, type II [RCV002066464] Chr17:80107877 [GRCh38]
Chr17:78081676 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2430C>G (p.Pro810=) single nucleotide variant Cardiovascular phenotype [RCV002454223]|Glycogen storage disease, type II [RCV000980479]|not provided [RCV003424515] Chr17:80117698 [GRCh38]
Chr17:78091497 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2332-5T>G single nucleotide variant Glycogen storage disease, type II [RCV001495404] Chr17:80117595 [GRCh38]
Chr17:78091394 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) single nucleotide variant Glycogen storage disease, type II [RCV000928261] Chr17:80112650 [GRCh38]
Chr17:78086449 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-10C>T single nucleotide variant Glycogen storage disease, type II [RCV000920849] Chr17:80110717 [GRCh38]
Chr17:78084516 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1818C>T (p.His606=) single nucleotide variant Cardiovascular phenotype [RCV002409121]|Glycogen storage disease, type II [RCV000878382] Chr17:80112641 [GRCh38]
Chr17:78086440 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.999A>G (p.Thr333=) single nucleotide variant Glycogen storage disease, type II [RCV001492310] Chr17:80108333 [GRCh38]
Chr17:78082132 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-8C>T single nucleotide variant Glycogen storage disease, type II [RCV001469816] Chr17:80109937 [GRCh38]
Chr17:78083736 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1005G>A (p.Gly335=) single nucleotide variant Glycogen storage disease, type II [RCV001475142] Chr17:80108339 [GRCh38]
Chr17:78082138 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.693-5C>T single nucleotide variant Glycogen storage disease, type II [RCV000873973]|not provided [RCV003145216] Chr17:80107552 [GRCh38]
Chr17:78081351 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1636+9G>T single nucleotide variant Glycogen storage disease, type II [RCV000874427] Chr17:80111034 [GRCh38]
Chr17:78084833 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1059G>A (p.Gln353=) single nucleotide variant Glycogen storage disease, type II [RCV001403764] Chr17:80108393 [GRCh38]
Chr17:78082192 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2196C>A (p.Pro732=) single nucleotide variant Cardiovascular phenotype [RCV002427356]|Glycogen storage disease, type II [RCV001421651] Chr17:80116974 [GRCh38]
Chr17:78090773 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+7T>C single nucleotide variant Glycogen storage disease, type II [RCV001395356] Chr17:80111032 [GRCh38]
Chr17:78084831 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2154C>G (p.Val718=) single nucleotide variant Glycogen storage disease, type II [RCV000924672] Chr17:80113331 [GRCh38]
Chr17:78087130 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+10C>A single nucleotide variant Glycogen storage disease, type II [RCV000876864] Chr17:80107732 [GRCh38]
Chr17:78081531 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1170C>T (p.Asn390=) single nucleotide variant Glycogen storage disease, type II [RCV001469788] Chr17:80108583 [GRCh38]
Chr17:78082382 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2799+10C>G single nucleotide variant Glycogen storage disease, type II [RCV001403808] Chr17:80118815 [GRCh38]
Chr17:78092614 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1803G>T (p.Ser601=) single nucleotide variant Glycogen storage disease, type II [RCV001400140] Chr17:80112626 [GRCh38]
Chr17:78086425 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1195-19_2190-17del deletion Glycogen storage disease, type II [RCV000780267] Chr17:80108677..80116950 [GRCh38]
Chr17:78082476..78090749 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) indel Glycogen storage disease, type II [RCV000781390]|not provided [RCV001784394] Chr17:80112938..80112939 [GRCh38]
Chr17:78086737..78086738 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) single nucleotide variant Glycogen storage disease, type II [RCV000780271] Chr17:80112892 [GRCh38]
Chr17:78086691 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) single nucleotide variant Glycogen storage disease, type II [RCV000799233] Chr17:80118199 [GRCh38]
Chr17:78091998 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2040+4G>C single nucleotide variant Glycogen storage disease, type II [RCV000815688] Chr17:80113031 [GRCh38]
Chr17:78086830 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) single nucleotide variant Glycogen storage disease, type II [RCV000813860] Chr17:80110990 [GRCh38]
Chr17:78084789 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) single nucleotide variant Glycogen storage disease, type II [RCV000796710] Chr17:80111014 [GRCh38]
Chr17:78084813 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2481+5C>G single nucleotide variant Glycogen storage disease, type II [RCV000806449] Chr17:80117754 [GRCh38]
Chr17:78091553 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) single nucleotide variant Glycogen storage disease, type II [RCV000817631]|not provided [RCV003141841]|not specified [RCV003323733] Chr17:80110983 [GRCh38]
Chr17:78084782 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2672G>A (p.Arg891His) single nucleotide variant Glycogen storage disease, type II [RCV000810426]|not provided [RCV003145164] Chr17:80118678 [GRCh38]
Chr17:78092477 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) single nucleotide variant Glycogen storage disease, type II [RCV000810454] Chr17:80104862 [GRCh38]
Chr17:78078661 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.55G>A (p.Val19Met) single nucleotide variant Cardiovascular phenotype [RCV002345852]|Glycogen storage disease, type II [RCV000813668] Chr17:80104641 [GRCh38]
Chr17:78078440 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) single nucleotide variant Glycogen storage disease, type II [RCV000799681] Chr17:80110974 [GRCh38]
Chr17:78084773 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) single nucleotide variant Glycogen storage disease, type II [RCV000823699] Chr17:80118794 [GRCh38]
Chr17:78092593 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) single nucleotide variant Glycogen storage disease, type II [RCV000813939]|not provided [RCV001563037] Chr17:80108712 [GRCh38]
Chr17:78082511 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.547-243C>G single nucleotide variant not provided [RCV000840011] Chr17:80105506 [GRCh38]
Chr17:78079305 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.547-238T>C single nucleotide variant not provided [RCV000840014] Chr17:80105511 [GRCh38]
Chr17:78079310 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.693-216T>C single nucleotide variant not provided [RCV000840016] Chr17:80107341 [GRCh38]
Chr17:78081140 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1327-179G>A single nucleotide variant not provided [RCV000840021] Chr17:80109766 [GRCh38]
Chr17:78083565 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1438-220A>G single nucleotide variant not provided [RCV000840022] Chr17:80110507 [GRCh38]
Chr17:78084306 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2800-227C>T single nucleotide variant not provided [RCV000840024] Chr17:80119045 [GRCh38]
Chr17:78092844 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) single nucleotide variant Glycogen storage disease, type II [RCV000824371] Chr17:80118678 [GRCh38]
Chr17:78092477 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) single nucleotide variant Glycogen storage disease, type II [RCV000791246] Chr17:80107817 [GRCh38]
Chr17:78081616 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) single nucleotide variant Glycogen storage disease, type II [RCV000791250] Chr17:80110827 [GRCh38]
Chr17:78084626 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.625T>C (p.Tyr209His) single nucleotide variant Glycogen storage disease, type II [RCV000798227]|not provided [RCV003144607] Chr17:80105827 [GRCh38]
Chr17:78079626 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.631G>A (p.Val211Met) single nucleotide variant Glycogen storage disease, type II [RCV000808335]|not provided [RCV001566572] Chr17:80105833 [GRCh38]
Chr17:78079632 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) single nucleotide variant Glycogen storage disease, type II [RCV000810832] Chr17:80107694 [GRCh38]
Chr17:78081493 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.546+293G>A single nucleotide variant not provided [RCV000840391] Chr17:80105425 [GRCh38]
Chr17:78079224 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1327-269A>G single nucleotide variant not provided [RCV000840392] Chr17:80109676 [GRCh38]
Chr17:78083475 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2189+263G>A single nucleotide variant not provided [RCV000840393] Chr17:80113629 [GRCh38]
Chr17:78087428 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) single nucleotide variant Glycogen storage disease, type II [RCV000821867] Chr17:80112928 [GRCh38]
Chr17:78086727 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NC_000017.11:g.(?_80118183)_(80118367_?)del deletion Glycogen storage disease, type II [RCV000803277] Chr17:80118183..80118367 [GRCh38]
Chr17:78091982..78092166 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) single nucleotide variant Glycogen storage disease, type II [RCV000820272]|not specified [RCV001805898] Chr17:80112603 [GRCh38]
Chr17:78086402 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) single nucleotide variant Glycogen storage disease, type II [RCV000820308] Chr17:80105768 [GRCh38]
Chr17:78079567 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) single nucleotide variant Glycogen storage disease, type II [RCV000796295] Chr17:80108516 [GRCh38]
Chr17:78082315 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1754+6G>C single nucleotide variant Glycogen storage disease, type II [RCV000795360] Chr17:80112106 [GRCh38]
Chr17:78085905 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.859-3C>T single nucleotide variant Glycogen storage disease, type II [RCV000800450] Chr17:80107797 [GRCh38]
Chr17:78081596 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2482-18G>A single nucleotide variant Glycogen storage disease, type II [RCV002067526]|not provided [RCV000840748] Chr17:80118175 [GRCh38]
Chr17:78091974 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) single nucleotide variant Glycogen storage disease, type II [RCV000799069]|not provided [RCV001759517] Chr17:80105845 [GRCh38]
Chr17:78079644 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.514A>G (p.Met172Val) single nucleotide variant Glycogen storage disease, type II [RCV000800653] Chr17:80105100 [GRCh38]
Chr17:78078899 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) indel Glycogen storage disease, type II [RCV000813141] Chr17:80113234..80113235 [GRCh38]
Chr17:78087033..78087034 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) single nucleotide variant GAA-related condition [RCV003396382]|Glycogen storage disease, type II [RCV000796146]|not provided [RCV001507900] Chr17:80107589 [GRCh38]
Chr17:78081388 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) single nucleotide variant Glycogen storage disease, type II [RCV000804269]|not provided [RCV001784424] Chr17:80117651 [GRCh38]
Chr17:78091450 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.855C>A (p.Pro285=) single nucleotide variant Cardiovascular phenotype [RCV003169246]|Glycogen storage disease, type II [RCV000893179]|not provided [RCV001566624] Chr17:80107719 [GRCh38]
Chr17:78081518 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.806_830del (p.Leu269fs) deletion Glycogen storage disease, type II [RCV000812485] Chr17:80107669..80107693 [GRCh38]
Chr17:78081468..78081492 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) single nucleotide variant Glycogen storage disease, type II [RCV000820088] Chr17:80117657 [GRCh38]
Chr17:78091456 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-9T>C single nucleotide variant not provided [RCV000831399] Chr17:80104578 [GRCh38]
Chr17:78078377 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) single nucleotide variant Glycogen storage disease, type II [RCV000820224] Chr17:80112930 [GRCh38]
Chr17:78086729 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NC_000017.11:g.80107508C>T single nucleotide variant not provided [RCV000835677] Chr17:78081307 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) single nucleotide variant Glycogen storage disease, type II [RCV000823451]|not provided [RCV003145210] Chr17:80105034 [GRCh38]
Chr17:78078833 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.704C>T (p.Thr235Met) single nucleotide variant Glycogen storage disease, type II [RCV000813790]|not provided [RCV001090257] Chr17:80107568 [GRCh38]
Chr17:78081367 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2481+110_2646+39del deletion Glycogen storage disease, type II [RCV000813887]|not provided [RCV001784437] Chr17:80117851..80118388 [GRCh38]
Chr17:78091650..78092187 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg) single nucleotide variant Glycogen storage disease, type II [RCV000791248] Chr17:80112882 [GRCh38]
Chr17:78086681 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) single nucleotide variant Glycogen storage disease, type II [RCV000821231] Chr17:80118352 [GRCh38]
Chr17:78092151 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.2332-198A>T single nucleotide variant not provided [RCV000840012] Chr17:80117402 [GRCh38]
Chr17:78091201 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) single nucleotide variant Glycogen storage disease, type II [RCV000794616] Chr17:80105888 [GRCh38]
Chr17:78079687 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1438-1G>T single nucleotide variant Glycogen storage disease, type II [RCV000818785]|not provided [RCV001785729] Chr17:80110726 [GRCh38]
Chr17:78084525 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.851C>T (p.Ala284Val) single nucleotide variant Glycogen storage disease, type II [RCV000821904]|not provided [RCV003424362] Chr17:80107715 [GRCh38]
Chr17:78081514 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) single nucleotide variant Glycogen storage disease, type II [RCV000794900] Chr17:80104795 [GRCh38]
Chr17:78078594 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) single nucleotide variant Glycogen storage disease, type II [RCV000792831] Chr17:80105089 [GRCh38]
Chr17:78078888 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) single nucleotide variant Glycogen storage disease, type II [RCV000792975] Chr17:80113333 [GRCh38]
Chr17:78087132 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) single nucleotide variant Glycogen storage disease, type II [RCV000811403] Chr17:80110049 [GRCh38]
Chr17:78083848 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1636+210G>A single nucleotide variant not provided [RCV000829676] Chr17:80111235 [GRCh38]
Chr17:78085034 [GRCh37]
Chr17:17q25.3
benign
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) single nucleotide variant Glycogen storage disease, type II [RCV000811726] Chr17:80107800 [GRCh38]
Chr17:78081599 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser) single nucleotide variant Glycogen storage disease, type II [RCV001044804] Chr17:80112696 [GRCh38]
Chr17:78086495 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) single nucleotide variant Glycogen storage disease, type II [RCV000810435] Chr17:80110044 [GRCh38]
Chr17:78083843 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) single nucleotide variant Glycogen storage disease, type II [RCV001046639]|not provided [RCV003141970] Chr17:80108546 [GRCh38]
Chr17:78082345 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) single nucleotide variant Glycogen storage disease, type II [RCV000794042]|not provided [RCV001784410] Chr17:80112621 [GRCh38]
Chr17:78086420 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs) insertion Glycogen storage disease, type II [RCV000791249] Chr17:80108728..80108729 [GRCh38]
Chr17:78082527..78082528 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.826A>G (p.Ile276Val) single nucleotide variant not provided [RCV001090258] Chr17:80107690 [GRCh38]
Chr17:78081489 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2101C>T (p.Leu701=) single nucleotide variant not provided [RCV000826941] Chr17:80113278 [GRCh38]
Chr17:78087077 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1275G>A (p.Pro425=) single nucleotide variant Cardiovascular phenotype [RCV002372343]|Glycogen storage disease, type II [RCV000821247] Chr17:80108777 [GRCh38]
Chr17:78082576 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) single nucleotide variant Glycogen storage disease, type II [RCV000821318]|Inborn genetic diseases [RCV002537500]|not provided [RCV002290469] Chr17:80118309 [GRCh38]
Chr17:78092108 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) single nucleotide variant Glycogen storage disease, type II [RCV000810395] Chr17:80105073 [GRCh38]
Chr17:78078872 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) single nucleotide variant Glycogen storage disease, type II [RCV000805172]|not provided [RCV001766674] Chr17:80108731 [GRCh38]
Chr17:78082530 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1888+8C>T single nucleotide variant Glycogen storage disease, type II [RCV001432765] Chr17:80112719 [GRCh38]
Chr17:78086518 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.918G>A (p.Ser306=) single nucleotide variant Cardiovascular phenotype [RCV002372301]|Glycogen storage disease, type II [RCV000815515] Chr17:80107859 [GRCh38]
Chr17:78081658 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.-32-181C>T single nucleotide variant not provided [RCV000837183] Chr17:80104374 [GRCh38]
Chr17:78078173 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) single nucleotide variant Glycogen storage disease, type II [RCV000805680] Chr17:80104603 [GRCh38]
Chr17:78078402 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-18T>A single nucleotide variant not provided [RCV000831153] Chr17:80104569 [GRCh38]
Chr17:78078368 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) single nucleotide variant Glycogen storage disease, type II [RCV000799395]|not provided [RCV003141792] Chr17:80105770 [GRCh38]
Chr17:78079569 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) single nucleotide variant Glycogen storage disease, type II [RCV000818942] Chr17:80110728 [GRCh38]
Chr17:78084527 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) indel Glycogen storage disease, type II [RCV000822287] Chr17:80111018..80111019 [GRCh38]
Chr17:78084817..78084818 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) single nucleotide variant Glycogen storage disease, type II [RCV000822702]|not provided [RCV001784455] Chr17:80105873 [GRCh38]
Chr17:78079672 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.754C>T (p.Leu252=) single nucleotide variant Glycogen storage disease, type II [RCV001482903] Chr17:80107618 [GRCh38]
Chr17:78081417 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.347G>T (p.Gly116Val) single nucleotide variant Cardiovascular phenotype [RCV002336599]|Glycogen storage disease, type II [RCV000799963] Chr17:80104933 [GRCh38]
Chr17:78078732 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2122C>A (p.His708Asn) single nucleotide variant Glycogen storage disease, type II [RCV000811333] Chr17:80113299 [GRCh38]
Chr17:78087098 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78078341)_(78093140_?)dup duplication Glycogen storage disease, type II [RCV000801990] Chr17:80104542..80119341 [GRCh38]
Chr17:78078341..78093140 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) single nucleotide variant Glycogen storage disease, type II [RCV000816652] Chr17:80104791 [GRCh38]
Chr17:78078590 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) single nucleotide variant Glycogen storage disease, type II [RCV000814062]|not provided [RCV002259372] Chr17:80108734 [GRCh38]
Chr17:78082533 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) single nucleotide variant Glycogen storage disease, type II [RCV000814412] Chr17:80110024 [GRCh38]
Chr17:78083823 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2190-286G>A single nucleotide variant not provided [RCV000832641] Chr17:80116682 [GRCh38]
Chr17:78090481 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.686G>A (p.Arg229His) single nucleotide variant Glycogen storage disease, type II [RCV000817672]|not provided [RCV003132095] Chr17:80105888 [GRCh38]
Chr17:78079687 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs) duplication Glycogen storage disease, type II [RCV001067646] Chr17:80109963..80109964 [GRCh38]
Chr17:78083762..78083763 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp) single nucleotide variant Glycogen storage disease, type II [RCV001046352] Chr17:80110008 [GRCh38]
Chr17:78083807 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) indel Glycogen storage disease, type II [RCV000985050] Chr17:80108545..80108549 [GRCh38]
Chr17:78082344..78082348 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) single nucleotide variant Glycogen storage disease, type II [RCV001044499]|not provided [RCV001759959] Chr17:80105088 [GRCh38]
Chr17:78078887 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro) single nucleotide variant Glycogen storage disease, type II [RCV001044803]|not provided [RCV003141965] Chr17:80112694 [GRCh38]
Chr17:78086493 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.328T>C (p.Tyr110His) single nucleotide variant Glycogen storage disease, type II [RCV001068535] Chr17:80104914 [GRCh38]
Chr17:78078713 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg) single nucleotide variant Glycogen storage disease, type II [RCV001065440] Chr17:80117748 [GRCh38]
Chr17:78091547 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1464dup (p.Asp489fs) duplication Glycogen storage disease, type II [RCV001067144]|not provided [RCV001724225] Chr17:80110749..80110750 [GRCh38]
Chr17:78084548..78084549 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys) single nucleotide variant Glycogen storage disease, type II [RCV001228681] Chr17:80110994 [GRCh38]
Chr17:78084793 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn) single nucleotide variant Glycogen storage disease, type II [RCV001202637] Chr17:80118292 [GRCh38]
Chr17:78092091 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.488A>T (p.Asp163Val) single nucleotide variant Glycogen storage disease, type II [RCV001248409]|not provided [RCV001813817] Chr17:80105074 [GRCh38]
Chr17:78078873 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.68C>T (p.Thr23Ile) single nucleotide variant Glycogen storage disease, type II [RCV001064957] Chr17:80104654 [GRCh38]
Chr17:78078453 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser) single nucleotide variant Glycogen storage disease, type II [RCV001219641] Chr17:80117696 [GRCh38]
Chr17:78091495 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.161C>T (p.Pro54Leu) single nucleotide variant Glycogen storage disease, type II [RCV001248345] Chr17:80104747 [GRCh38]
Chr17:78078546 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala) single nucleotide variant Cardiovascular phenotype [RCV002393544]|Glycogen storage disease, type II [RCV001223411]|not provided [RCV001806061] Chr17:80111992 [GRCh38]
Chr17:78085791 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal) indel Glycogen storage disease, type II [RCV001200865]|not provided [RCV003142126] Chr17:80113344..80113356 [GRCh38]
Chr17:78087143..78087155 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.722_723del (p.Phe241fs) deletion Glycogen storage disease, type II [RCV001200871] Chr17:80107585..80107586 [GRCh38]
Chr17:78081384..78081385 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.377G>A (p.Trp126Ter) single nucleotide variant Glycogen storage disease, type II [RCV001200872] Chr17:80104963 [GRCh38]
Chr17:78078762 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.955+1G>A single nucleotide variant Glycogen storage disease, type II [RCV001200873] Chr17:80107897 [GRCh38]
Chr17:78081696 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) single nucleotide variant Glycogen storage disease, type II [RCV001233390] Chr17:80108713 [GRCh38]
Chr17:78082512 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.899C>T (p.Ala300Val) single nucleotide variant Glycogen storage disease, type II [RCV001220708] Chr17:80107840 [GRCh38]
Chr17:78081639 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.461G>A (p.Arg154His) single nucleotide variant Glycogen storage disease, type II [RCV001202910] Chr17:80105047 [GRCh38]
Chr17:78078846 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.590C>T (p.Thr197Ile) single nucleotide variant Glycogen storage disease, type II [RCV001226399] Chr17:80105792 [GRCh38]
Chr17:78079591 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) single nucleotide variant Glycogen storage disease, type II [RCV001240945]|not provided [RCV003132328] Chr17:80108549 [GRCh38]
Chr17:78082348 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs) indel Glycogen storage disease, type II [RCV001239370]|not provided [RCV001785798] Chr17:80107663..80107667 [GRCh38]
Chr17:78081462..78081466 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys) single nucleotide variant Glycogen storage disease, type II [RCV001243105] Chr17:80112100 [GRCh38]
Chr17:78085899 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.133T>G (p.Ser45Ala) single nucleotide variant Glycogen storage disease, type II [RCV001235043] Chr17:80104719 [GRCh38]
Chr17:78078518 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1579del (p.Arg527fs) deletion Glycogen storage disease, type II [RCV001225163] Chr17:80110968 [GRCh38]
Chr17:78084767 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) single nucleotide variant Glycogen storage disease, type II [RCV001243457]|not provided [RCV001726464] Chr17:80104803 [GRCh38]
Chr17:78078602 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.979G>A (p.Ala327Thr) single nucleotide variant Glycogen storage disease, type II [RCV001243504] Chr17:80108313 [GRCh38]
Chr17:78082112 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1576A>G (p.Ile526Val) single nucleotide variant Glycogen storage disease, type II [RCV001232040] Chr17:80110965 [GRCh38]
Chr17:78084764 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1225dup (p.Asp409fs) duplication Glycogen storage disease, type II [RCV001224185]|not provided [RCV001780153] Chr17:80108725..80108726 [GRCh38]
Chr17:78082524..78082525 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp) single nucleotide variant Glycogen storage disease, type II [RCV001223131] Chr17:80108808 [GRCh38]
Chr17:78082607 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile) single nucleotide variant Glycogen storage disease, type II [RCV001242088] Chr17:80113276 [GRCh38]
Chr17:78087075 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp) single nucleotide variant Glycogen storage disease, type II [RCV001221761] Chr17:80112914 [GRCh38]
Chr17:78086713 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.244T>C (p.Cys82Arg) single nucleotide variant Glycogen storage disease, type II [RCV001207417] Chr17:80104830 [GRCh38]
Chr17:78078629 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys) single nucleotide variant Glycogen storage disease, type II [RCV001240872] Chr17:80110029 [GRCh38]
Chr17:78083828 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1195-2A>G single nucleotide variant Glycogen storage disease, type II [RCV001248954] Chr17:80108695 [GRCh38]
Chr17:78082494 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) single nucleotide variant Glycogen storage disease, type II [RCV001249005] Chr17:80108337 [GRCh38]
Chr17:78082136 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) single nucleotide variant Glycogen storage disease, type II [RCV001249044] Chr17:80112945 [GRCh38]
Chr17:78086744 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) single nucleotide variant Glycogen storage disease, type II [RCV001249049]|not provided [RCV001780194] Chr17:80112645 [GRCh38]
Chr17:78086444 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.883C>A (p.His295Asn) single nucleotide variant Glycogen storage disease, type II [RCV001226064]|not provided [RCV003145424] Chr17:80107824 [GRCh38]
Chr17:78081623 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.221G>A (p.Arg74His) single nucleotide variant Glycogen storage disease, type II [RCV001242349]|not provided [RCV003142210] Chr17:80104807 [GRCh38]
Chr17:78078606 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) single nucleotide variant Glycogen storage disease, type II [RCV001249032] Chr17:80116988 [GRCh38]
Chr17:78090787 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1755-3C>T single nucleotide variant Glycogen storage disease, type II [RCV001248405] Chr17:80112575 [GRCh38]
Chr17:78086374 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1847dup (p.Asp616fs) duplication Glycogen storage disease, type II [RCV000855414] Chr17:80112669..80112670 [GRCh38]
Chr17:78086468..78086469 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.26C>G (p.Ser9Cys) single nucleotide variant not provided [RCV000996615] Chr17:80104612 [GRCh38]
Chr17:78078411 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.193C>T (p.Pro65Ser) single nucleotide variant not provided [RCV000996616] Chr17:80104779 [GRCh38]
Chr17:78078578 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1836C>G (p.His612Gln) single nucleotide variant Glycogen storage disease, type II [RCV001249047] Chr17:80112659 [GRCh38]
Chr17:78086458 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.-32-2A>G single nucleotide variant Glycogen storage disease, type II [RCV001249079] Chr17:80104553 [GRCh38]
Chr17:78078352 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) single nucleotide variant Glycogen storage disease, type II [RCV001199946]|not provided [RCV001780105] Chr17:80112643 [GRCh38]
Chr17:78086442 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.-325C>T single nucleotide variant Glycogen storage disease, type II [RCV001125212]|Primary ciliary dyskinesia 15 [RCV001125211] Chr17:80101598 [GRCh38]
Chr17:78075397 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2716G>A (p.Val906Ile) single nucleotide variant not provided [RCV001091541] Chr17:80118722 [GRCh38]
Chr17:78092521 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.*82C>T single nucleotide variant Glycogen storage disease, type II [RCV001122819] Chr17:80119413 [GRCh38]
Chr17:78093212 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) single nucleotide variant Glycogen storage disease, type II [RCV001228970]|not provided [RCV001751444] Chr17:80107812 [GRCh38]
Chr17:78081611 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_000152.5(GAA):c.-75C>G single nucleotide variant Glycogen storage disease, type II [RCV001126190]|Primary ciliary dyskinesia 15 [RCV001126189]|not provided [RCV001732049] Chr17:80101848 [GRCh38]
Chr17:78075647 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.*219G>A single nucleotide variant Glycogen storage disease, type II [RCV001123905] Chr17:80119550 [GRCh38]
Chr17:78093349 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.*313C>G single nucleotide variant Glycogen storage disease, type II [RCV001123908] Chr17:80119644 [GRCh38]
Chr17:78093443 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1704C>G (p.His568Gln) single nucleotide variant Glycogen storage disease, type II [RCV001248864] Chr17:80112050 [GRCh38]
Chr17:78085849 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) single nucleotide variant Glycogen storage disease, type II [RCV001248865]|not provided [RCV001780189] Chr17:80110953 [GRCh38]
Chr17:78084752 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.956-31T>C single nucleotide variant not provided [RCV001576118] Chr17:80108259 [GRCh38]
Chr17:78082058 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+151C>T single nucleotide variant not provided [RCV001551759] Chr17:80117260 [GRCh38]
Chr17:78091059 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+11G>T single nucleotide variant Glycogen storage disease, type II [RCV003106735] Chr17:80108618 [GRCh38]
Chr17:78082417 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1326+132G>A single nucleotide variant not provided [RCV001666140] Chr17:80108960 [GRCh38]
Chr17:78082759 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.955+155C>A single nucleotide variant not provided [RCV001666222] Chr17:80108051 [GRCh38]
Chr17:78081850 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.-33+219G>C single nucleotide variant not provided [RCV001635926] Chr17:80102109 [GRCh38]
Chr17:78075908 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.546+176C>T single nucleotide variant not provided [RCV001593876] Chr17:80105308 [GRCh38]
Chr17:78079107 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1755-200dup duplication not provided [RCV001569893] Chr17:80112370..80112371 [GRCh38]
Chr17:78086169..78086170 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.692+144A>G single nucleotide variant not provided [RCV001716210] Chr17:80106038 [GRCh38]
Chr17:78079837 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.956-107G>A single nucleotide variant not provided [RCV001649559] Chr17:80108183 [GRCh38]
Chr17:78081982 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1437+22C>T single nucleotide variant not provided [RCV001568258] Chr17:80110077 [GRCh38]
Chr17:78083876 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1485C>T (p.Ala495=) single nucleotide variant Glycogen storage disease, type II [RCV002071911]|not specified [RCV001532935] Chr17:80110774 [GRCh38]
Chr17:78084573 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1989G>A (p.Gln663=) single nucleotide variant Glycogen storage disease, type II [RCV001470252] Chr17:80112976 [GRCh38]
Chr17:78086775 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2769C>A (p.Val923=) single nucleotide variant Glycogen storage disease, type II [RCV000930210] Chr17:80118775 [GRCh38]
Chr17:78092574 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1140C>T (p.Ser380=) single nucleotide variant Glycogen storage disease, type II [RCV000887203] Chr17:80108553 [GRCh38]
Chr17:78082352 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1893C>T (p.Ile631=) single nucleotide variant Glycogen storage disease, type II [RCV001439959] Chr17:80112880 [GRCh38]
Chr17:78086679 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2424G>A (p.Pro808=) single nucleotide variant Cardiovascular phenotype [RCV002454032]|Glycogen storage disease, type II [RCV000874739] Chr17:80117692 [GRCh38]
Chr17:78091491 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.654C>T (p.Phe218=) single nucleotide variant Cardiovascular phenotype [RCV002363503]|Glycogen storage disease, type II [RCV000979980] Chr17:80105856 [GRCh38]
Chr17:78079655 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.246C>T (p.Cys82=) single nucleotide variant Cardiovascular phenotype [RCV002454113]|Glycogen storage disease, type II [RCV001424358] Chr17:80104832 [GRCh38]
Chr17:78078631 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.138C>T (p.Ser46=) single nucleotide variant Glycogen storage disease, type II [RCV000977371] Chr17:80104724 [GRCh38]
Chr17:78078523 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1533C>G (p.Pro511=) single nucleotide variant Glycogen storage disease, type II [RCV001479182] Chr17:80110822 [GRCh38]
Chr17:78084621 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.240A>G (p.Thr80=) single nucleotide variant Glycogen storage disease, type II [RCV000916725] Chr17:80104826 [GRCh38]
Chr17:78078625 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) single nucleotide variant Glycogen storage disease, type II [RCV000886768]|not provided [RCV003130083] Chr17:80109964 [GRCh38]
Chr17:78083763 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.2097C>T (p.Leu699=) single nucleotide variant Glycogen storage disease, type II [RCV000933307] Chr17:80113274 [GRCh38]
Chr17:78087073 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2544C>T (p.Thr848=) single nucleotide variant Glycogen storage disease, type II [RCV001452454]|not provided [RCV003424447] Chr17:80118255 [GRCh38]
Chr17:78092054 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2263del (p.Val755fs) deletion not provided [RCV001781147] Chr17:80117041 [GRCh38]
Chr17:78090840 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1486C>T (p.Leu496=) single nucleotide variant Cardiovascular phenotype [RCV002390972]|Glycogen storage disease, type II [RCV001430564] Chr17:80110775 [GRCh38]
Chr17:78084574 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.798C>G (p.Pro266=) single nucleotide variant Glycogen storage disease, type II [RCV001460073] Chr17:80107662 [GRCh38]
Chr17:78081461 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2757C>T (p.Asn919=) single nucleotide variant Cardiovascular phenotype [RCV003169263]|Glycogen storage disease, type II [RCV000904484] Chr17:80118763 [GRCh38]
Chr17:78092562 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1071T>C (p.Val357=) single nucleotide variant Glycogen storage disease, type II [RCV001494868] Chr17:80108405 [GRCh38]
Chr17:78082204 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2040+8G>C single nucleotide variant Glycogen storage disease, type II [RCV000983271] Chr17:80113035 [GRCh38]
Chr17:78086834 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2739C>T (p.Pro913=) single nucleotide variant Cardiovascular phenotype [RCV002434181]|Glycogen storage disease, type II [RCV000887817] Chr17:80118745 [GRCh38]
Chr17:78092544 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1781G>A (p.Arg594His) single nucleotide variant Glycogen storage disease, type II [RCV001876297]|Glycoprotein storage disease [RCV001248866]|not provided [RCV003142223] Chr17:80112604 [GRCh38]
Chr17:78086403 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) single nucleotide variant Glycogen storage disease, type II [RCV001248925] Chr17:80119318 [GRCh38]
Chr17:78093117 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) single nucleotide variant Glycogen storage disease, type II [RCV001248926]|not provided [RCV001780190] Chr17:80110951 [GRCh38]
Chr17:78084750 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1441del (p.Trp481fs) deletion Glycogen storage disease, type II [RCV001248927]|not provided [RCV001780191] Chr17:80110730 [GRCh38]
Chr17:78084529 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1327-2A>G single nucleotide variant Glycogen storage disease, type II [RCV001248928]|not provided [RCV001780192] Chr17:80109943 [GRCh38]
Chr17:78083742 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) single nucleotide variant Glycogen storage disease, type II [RCV001249006]|not provided [RCV001780193] Chr17:80107607 [GRCh38]
Chr17:78081406 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro) single nucleotide variant Glycogen storage disease, type II [RCV001249031] Chr17:80118239 [GRCh38]
Chr17:78092038 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2041-1G>A single nucleotide variant Glycogen storage disease, type II [RCV001249033] Chr17:80113217 [GRCh38]
Chr17:78087016 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.547-67C>G single nucleotide variant Glycogen storage disease, type II [RCV001249077]|not provided [RCV001597259] Chr17:80105682 [GRCh38]
Chr17:78079481 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1087A>G (p.Met363Val) single nucleotide variant not specified [RCV001194238] Chr17:80108500 [GRCh38]
Chr17:78082299 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1743C>G (p.Ile581Met) single nucleotide variant Glycogen storage disease, type II [RCV001244232] Chr17:80112089 [GRCh38]
Chr17:78085888 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr) single nucleotide variant Glycogen storage disease, type II [RCV001228172]|not provided [RCV003132305] Chr17:80112090 [GRCh38]
Chr17:78085889 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1734C>T (p.Thr578=) single nucleotide variant Glycogen storage disease, type II [RCV001126382] Chr17:80112080 [GRCh38]
Chr17:78085879 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) deletion Glycogen storage disease, type II [RCV001200863]|not provided [RCV001780107] Chr17:80110025..80110027 [GRCh38]
Chr17:78083824..78083826 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del) deletion Glycogen storage disease, type II [RCV001200870] Chr17:80105043..80105051 [GRCh38]
Chr17:78078842..78078850 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.623T>C (p.Leu208Pro) single nucleotide variant Glycogen storage disease, type II [RCV002555444]|not specified [RCV001175569] Chr17:80105825 [GRCh38]
Chr17:78079624 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) single nucleotide variant Glycogen storage disease, type II [RCV001071217]|not provided [RCV001568545]|not specified [RCV003155354] Chr17:80107706 [GRCh38]
Chr17:78081505 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1396del (p.Val466fs) deletion Glycogen storage disease, type II [RCV001201750] Chr17:80110009 [GRCh38]
Chr17:78083808 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser) single nucleotide variant Glycogen storage disease, type II [RCV001035696] Chr17:80113218 [GRCh38]
Chr17:78087017 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1437+6G>A single nucleotide variant Glycogen storage disease, type II [RCV001244698] Chr17:80110061 [GRCh38]
Chr17:78083860 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs) indel Glycogen storage disease, type II [RCV001243297] Chr17:80110044..80110047 [GRCh38]
Chr17:78083843..78083846 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser) single nucleotide variant Glycogen storage disease, type II [RCV001245038]|Inborn genetic diseases [RCV002568611]|not provided [RCV001786455] Chr17:80117712 [GRCh38]
Chr17:78091511 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs) indel Glycogen storage disease, type II [RCV001243437] Chr17:80112584..80112588 [GRCh38]
Chr17:78086383..78086387 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) single nucleotide variant Glycogen storage disease, type II [RCV001245236]|not provided [RCV003145483] Chr17:80112896 [GRCh38]
Chr17:78086695 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys) single nucleotide variant Glycogen storage disease, type II [RCV001227602] Chr17:80118277 [GRCh38]
Chr17:78092076 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.857C>T (p.Thr286Met) single nucleotide variant Glycogen storage disease, type II [RCV001243641]|not provided [RCV003145475] Chr17:80107721 [GRCh38]
Chr17:78081520 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter) single nucleotide variant Glycogen storage disease, type II [RCV001208814] Chr17:80117062 [GRCh38]
Chr17:78090861 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.383T>C (p.Phe128Ser) single nucleotide variant Glycogen storage disease, type II [RCV001044505] Chr17:80104969 [GRCh38]
Chr17:78078768 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.307T>C (p.Cys103Arg) single nucleotide variant Glycogen storage disease, type II [RCV001193578] Chr17:80104893 [GRCh38]
Chr17:78078692 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly) single nucleotide variant Glycogen storage disease, type II [RCV001234653] Chr17:80112959 [GRCh38]
Chr17:78086758 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1817A>C (p.His606Pro) single nucleotide variant Glycogen storage disease, type II [RCV001234908]|not provided [RCV003145450] Chr17:80112640 [GRCh38]
Chr17:78086439 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.912C>T (p.Gly304=) single nucleotide variant Cardiovascular phenotype [RCV002375278]|Glycogen storage disease, type II [RCV001241695]|not provided [RCV001796864] Chr17:80107853 [GRCh38]
Chr17:78081652 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NC_000017.11:g.(?_80108677)_(80113386_?)del deletion Glycogen storage disease, type II [RCV001032053] Chr17:78082476..78087185 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1195-22C>T single nucleotide variant not specified [RCV001193014] Chr17:80108675 [GRCh38]
Chr17:78082474 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.96C>G (p.Leu32=) single nucleotide variant Glycogen storage disease, type II [RCV001401091] Chr17:80104682 [GRCh38]
Chr17:78078481 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1302C>T (p.Gly434=) single nucleotide variant Cardiovascular phenotype [RCV003169388]|Glycogen storage disease, type II [RCV000935457] Chr17:80108804 [GRCh38]
Chr17:78082603 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1941C>T (p.Cys647=) single nucleotide variant Cardiovascular phenotype [RCV002409217]|Glycogen storage disease, type II [RCV000934623] Chr17:80112928 [GRCh38]
Chr17:78086727 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-32G>A single nucleotide variant Glycogen storage disease, type II [RCV001832746]|not provided [RCV001550904] Chr17:80110695 [GRCh38]
Chr17:78084494 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2189+221A>C single nucleotide variant not provided [RCV001577558] Chr17:80113587 [GRCh38]
Chr17:78087386 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+118G>A single nucleotide variant not provided [RCV001578172] Chr17:80111143 [GRCh38]
Chr17:78084942 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2811C>G (p.Ile937Met) single nucleotide variant Glycogen storage disease, type II [RCV001563756] Chr17:80119283 [GRCh38]
Chr17:78093082 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.545C>T (p.Thr182Met) single nucleotide variant Glycogen storage disease, type II [RCV001563757]|not provided [RCV002267116] Chr17:80105131 [GRCh38]
Chr17:78078930 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2331+156C>G single nucleotide variant not provided [RCV001559886] Chr17:80117265 [GRCh38]
Chr17:78091064 [GRCh37]
Chr17:17q25.3
likely benign
NC_000017.11:g.80101448G>C single nucleotide variant not provided [RCV001559940] Chr17:80101448 [GRCh38]
Chr17:78075247 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.-32-84G>A single nucleotide variant not provided [RCV001559971] Chr17:80104471 [GRCh38]
Chr17:78078270 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+117del deletion not provided [RCV001636475] Chr17:80111142 [GRCh38]
Chr17:78084941 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter) single nucleotide variant Glycogen storage disease, type II [RCV001263816] Chr17:80118330 [GRCh38]
Chr17:78092129 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2190-53C>G single nucleotide variant not provided [RCV001592320] Chr17:80116915 [GRCh38]
Chr17:78090714 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-321del deletion not provided [RCV001713949] Chr17:80109624 [GRCh38]
Chr17:78083423 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.693-78C>T single nucleotide variant not provided [RCV001620945] Chr17:80107479 [GRCh38]
Chr17:78081278 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1437+70T>A single nucleotide variant not provided [RCV001656386] Chr17:80110125 [GRCh38]
Chr17:78083924 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.310G>C (p.Glu104Gln) single nucleotide variant Glycogen storage disease, type II [RCV001128257]|not provided [RCV003130162] Chr17:80104896 [GRCh38]
Chr17:78078695 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.435A>T (p.Glu145Asp) single nucleotide variant Glycogen storage disease, type II [RCV001128258] Chr17:80105021 [GRCh38]
Chr17:78078820 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1076-15G>C single nucleotide variant Glycogen storage disease, type II [RCV001128338] Chr17:80108474 [GRCh38]
Chr17:78082273 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu) single nucleotide variant Glycogen storage disease, type II [RCV001128432] Chr17:80112986 [GRCh38]
Chr17:78086785 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.*310C>T single nucleotide variant Glycogen storage disease, type II [RCV001123907] Chr17:80119641 [GRCh38]
Chr17:78093440 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.630C>T (p.Ser210=) single nucleotide variant Cardiovascular phenotype [RCV003293891]|Glycogen storage disease, type II [RCV001125316] Chr17:80105832 [GRCh38]
Chr17:78079631 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro) single nucleotide variant Glycogen storage disease, type II [RCV001034958] Chr17:80117649 [GRCh38]
Chr17:78091448 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.836G>A (p.Trp279Ter) single nucleotide variant Glycogen storage disease, type II [RCV001193013] Chr17:80107700 [GRCh38]
Chr17:78081499 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe) single nucleotide variant Glycogen storage disease, type II [RCV001246004] Chr17:80117615 [GRCh38]
Chr17:78091414 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) single nucleotide variant Glycogen storage disease, type II [RCV001125097]|Inborn genetic diseases [RCV003246709]|Primary ciliary dyskinesia 15 [RCV001125096] Chr17:80099558 [GRCh38]
Chr17:78073357 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_000152.5(GAA):c.1716C>G (p.His572Gln) single nucleotide variant Glycogen storage disease, type II [RCV001194239]|not provided [RCV003145370] Chr17:80112062 [GRCh38]
Chr17:78085861 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.196C>T (p.Arg66Trp) single nucleotide variant Glycogen storage disease, type II [RCV001126191] Chr17:80104782 [GRCh38]
Chr17:78078581 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.840C>G (p.Asn280Lys) single nucleotide variant Glycogen storage disease, type II [RCV001126287] Chr17:80107704 [GRCh38]
Chr17:78081503 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1913G>T (p.Gly638Val) single nucleotide variant Glycogen storage disease, type II [RCV001193579]|not provided [RCV001780099] Chr17:80112900 [GRCh38]
Chr17:78086699 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln) single nucleotide variant Glycogen storage disease, type II [RCV001043994] Chr17:80117634 [GRCh38]
Chr17:78091433 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) single nucleotide variant Glycogen storage disease, type II [RCV001045915] Chr17:80108334 [GRCh38]
Chr17:78082133 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) single nucleotide variant Glycogen storage disease, type II [RCV001193011]|not provided [RCV003144478] Chr17:80117006 [GRCh38]
Chr17:78090805 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) single nucleotide variant Glycogen storage disease, type II [RCV001047976]|not provided [RCV002264159] Chr17:80105006 [GRCh38]
Chr17:78078805 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.466A>T (p.Thr156Ser) single nucleotide variant Glycogen storage disease, type II [RCV001229014] Chr17:80105052 [GRCh38]
Chr17:78078851 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.*64G>T single nucleotide variant Glycogen storage disease, type II [RCV001122817]|not provided [RCV001675984] Chr17:80119395 [GRCh38]
Chr17:78093194 [GRCh37]
Chr17:17q25.3
benign|uncertain significance
NC_000017.11:g.(?_80109935)_(80113376_?)del deletion Glycogen storage disease, type II [RCV001032590] Chr17:78083734..78087175 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1327-118A>G single nucleotide variant not provided [RCV001670769] Chr17:80109827 [GRCh38]
Chr17:78083626 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) single nucleotide variant Glycogen storage disease, type II [RCV001866229]|not provided [RCV001588706] Chr17:80112927 [GRCh38]
Chr17:78086726 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1715A>C (p.His572Pro) single nucleotide variant Glycogen storage disease, type II [RCV001071052] Chr17:80112061 [GRCh38]
Chr17:78085860 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2041-64G>A single nucleotide variant not provided [RCV001713201] Chr17:80113154 [GRCh38]
Chr17:78086953 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2332-170C>G single nucleotide variant not provided [RCV001533927] Chr17:80117430 [GRCh38]
Chr17:78091229 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.773C>G (p.Thr258Arg) single nucleotide variant not provided [RCV001583112] Chr17:80107637 [GRCh38]
Chr17:78081436 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1636+118G>T single nucleotide variant not provided [RCV001650271] Chr17:80111143 [GRCh38]
Chr17:78084942 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del) deletion Glycogen storage disease, type II [RCV001078140] Chr17:80112894..80112902 [GRCh38]
Chr17:78086693..78086701 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.955+167C>T single nucleotide variant not provided [RCV001587034] Chr17:80108063 [GRCh38]
Chr17:78081862 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1457C>T (p.Ala486Val) single nucleotide variant Glycogen storage disease, type II [RCV001046191]|not provided [RCV001805992] Chr17:80110746 [GRCh38]
Chr17:78084545 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) single nucleotide variant Glycogen storage disease, type II [RCV001194633] Chr17:80110829 [GRCh38]
Chr17:78084628 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2432del (p.Leu811fs) deletion Glycogen storage disease, type II [RCV001208130] Chr17:80117700 [GRCh38]
Chr17:78091499 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1194+5G>A single nucleotide variant Glycogen storage disease, type II [RCV001196112] Chr17:80108612 [GRCh38]
Chr17:78082411 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) single nucleotide variant Glycogen storage disease, type II [RCV001248924] Chr17:80112667 [GRCh38]
Chr17:78086466 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) single nucleotide variant Glycogen storage disease, type II [RCV001248955] Chr17:80108513 [GRCh38]
Chr17:78082312 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala) single nucleotide variant Glycogen storage disease, type II [RCV001208306] Chr17:80116993 [GRCh38]
Chr17:78090792 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly) single nucleotide variant Glycogen storage disease, type II [RCV001207429] Chr17:80118266 [GRCh38]
Chr17:78092065 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) single nucleotide variant Cardiovascular phenotype [RCV002339343]|Glycogen storage disease, type II [RCV001068891] Chr17:80108605 [GRCh38]
Chr17:78082404 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.530A>C (p.Asn177Thr) single nucleotide variant Glycogen storage disease, type II [RCV001041971] Chr17:80105116 [GRCh38]
Chr17:78078915 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.539A>G (p.His180Arg) single nucleotide variant Glycogen storage disease, type II [RCV001056438] Chr17:80105125 [GRCh38]
Chr17:78078924 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter) single nucleotide variant Glycogen storage disease, type II [RCV001248863] Chr17:80112071 [GRCh38]
Chr17:78085870 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe) single nucleotide variant Glycogen storage disease, type II [RCV001220302]|not provided [RCV003145408] Chr17:80108549 [GRCh38]
Chr17:78082348 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.268T>A (p.Phe90Ile) single nucleotide variant Glycogen storage disease, type II [RCV001042477] Chr17:80104854 [GRCh38]
Chr17:78078653 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) single nucleotide variant Glycogen storage disease, type II [RCV001056992] Chr17:80112917 [GRCh38]
Chr17:78086716 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) single nucleotide variant Glycogen storage disease, type II [RCV001247855]|not provided [RCV003130231] Chr17:80104902 [GRCh38]
Chr17:78078701 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser) single nucleotide variant Glycogen storage disease, type II [RCV001053072] Chr17:80110948 [GRCh38]
Chr17:78084747 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1755-1G>A single nucleotide variant Glycogen storage disease, type II [RCV001053073] Chr17:80112577 [GRCh38]
Chr17:78086376 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2012T>C (p.Met671Thr) single nucleotide variant Glycogen storage disease, type II [RCV001061203] Chr17:80112999 [GRCh38]
Chr17:78086798 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2479C>T (p.Gln827Ter) single nucleotide variant not provided [RCV001091539] Chr17:80117747 [GRCh38]
Chr17:78091546 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) single nucleotide variant Glycogen storage disease, type II [RCV001219885] Chr17:80111989 [GRCh38]
Chr17:78085788 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp) single nucleotide variant Glycogen storage disease, type II [RCV001053526] Chr17:80112939 [GRCh38]
Chr17:78086738 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro) single nucleotide variant Glycogen storage disease, type II [RCV001123713] Chr17:80110045 [GRCh38]
Chr17:78083844 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys) single nucleotide variant Glycogen storage disease, type II [RCV001233694] Chr17:80107631 [GRCh38]
Chr17:78081430 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1654del (p.Leu552fs) deletion Glycogen storage disease, type II [RCV001200867] Chr17:80111998 [GRCh38]
Chr17:78085797 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.322T>A (p.Cys108Ser) single nucleotide variant Glycogen storage disease, type II [RCV001051500] Chr17:80104908 [GRCh38]
Chr17:78078707 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr) single nucleotide variant Glycogen storage disease, type II [RCV001054048] Chr17:80108557 [GRCh38]
Chr17:78082356 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) single nucleotide variant Cardiovascular phenotype [RCV002436613]|Glycogen storage disease, type II [RCV001054052]|not provided [RCV003145301] Chr17:80119291 [GRCh38]
Chr17:78093090 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr) single nucleotide variant Cardiovascular phenotype [RCV002445272]|Glycogen storage disease, type II [RCV001051683] Chr17:80117630 [GRCh38]
Chr17:78091429 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys) single nucleotide variant Glycogen storage disease, type II [RCV001217897]|not provided [RCV003130191] Chr17:80117669 [GRCh38]
Chr17:78091468 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.148G>T (p.Glu50Ter) single nucleotide variant Glycogen storage disease, type II [RCV001207918] Chr17:80104734 [GRCh38]
Chr17:78078533 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1989G>T (p.Gln663His) single nucleotide variant Glycogen storage disease, type II [RCV001216207] Chr17:80112976 [GRCh38]
Chr17:78086775 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro) single nucleotide variant Glycogen storage disease, type II [RCV001215139] Chr17:80112885 [GRCh38]
Chr17:78086684 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) single nucleotide variant Glycogen storage disease, type II [RCV001217957] Chr17:80117636 [GRCh38]
Chr17:78091435 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.378G>A (p.Trp126Ter) single nucleotide variant Glycogen storage disease, type II [RCV001207151] Chr17:80104964 [GRCh38]
Chr17:78078763 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser) single nucleotide variant Glycogen storage disease, type II [RCV001210733] Chr17:80111008 [GRCh38]
Chr17:78084807 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1519dup (p.His507fs) duplication Glycogen storage disease, type II [RCV001218145] Chr17:80110806..80110807 [GRCh38]
Chr17:78084605..78084606 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.461G>C (p.Arg154Pro) single nucleotide variant Glycogen storage disease, type II [RCV001196113] Chr17:80105047 [GRCh38]
Chr17:78078846 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.928G>T (p.Val310Leu) single nucleotide variant Glycogen storage disease, type II [RCV001216662] Chr17:80107869 [GRCh38]
Chr17:78081668 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.167A>T (p.His56Leu) single nucleotide variant Glycogen storage disease, type II [RCV001059492] Chr17:80104753 [GRCh38]
Chr17:78078552 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) deletion Glycogen storage disease, type II [RCV001059579]|not provided [RCV001784616] Chr17:80113258 [GRCh38]
Chr17:78087057 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.643G>T (p.Glu215Ter) single nucleotide variant Glycogen storage disease, type II [RCV001204589] Chr17:80105845 [GRCh38]
Chr17:78079644 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) deletion Glycogen storage disease, type II [RCV001200864] Chr17:80112949..80112951 [GRCh38]
Chr17:78086748..78086750 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter) single nucleotide variant Glycogen storage disease, type II [RCV001200875] Chr17:80104985 [GRCh38]
Chr17:78078784 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.*163G>T single nucleotide variant Glycogen storage disease, type II [RCV001122820] Chr17:80119494 [GRCh38]
Chr17:78093293 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg) single nucleotide variant Glycogen storage disease, type II [RCV001246398] Chr17:80108755 [GRCh38]
Chr17:78082554 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile) single nucleotide variant Glycogen storage disease, type II [RCV001035068] Chr17:80112972 [GRCh38]
Chr17:78086771 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1638G>A (p.Gly546=) single nucleotide variant Glycogen storage disease, type II [RCV001126381] Chr17:80111984 [GRCh38]
Chr17:78085783 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.692+1G>A single nucleotide variant Glycogen storage disease, type II [RCV001249007] Chr17:80105895 [GRCh38]
Chr17:78079694 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.692+1G>C single nucleotide variant Glycogen storage disease, type II [RCV001249008] Chr17:80105895 [GRCh38]
Chr17:78079694 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.671G>C (p.Arg224Pro) single nucleotide variant Glycogen storage disease, type II [RCV001249009] Chr17:80105873 [GRCh38]
Chr17:78079672 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp) single nucleotide variant Glycogen storage disease, type II [RCV001249045] Chr17:80112930 [GRCh38]
Chr17:78086729 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1888+1G>A single nucleotide variant Glycogen storage disease, type II [RCV001249046] Chr17:80112712 [GRCh38]
Chr17:78086511 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala) single nucleotide variant Glycogen storage disease, type II [RCV001249048] Chr17:80112627 [GRCh38]
Chr17:78086426 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.3G>A (p.Met1Ile) single nucleotide variant Glycogen storage disease, type II [RCV001249078] Chr17:80104589 [GRCh38]
Chr17:78078388 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) microsatellite Glycogen storage disease, type II [RCV001174788] Chr17:80116995..80116996 [GRCh38]
Chr17:78090794..78090795 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.217G>T (p.Gly73Cys) single nucleotide variant Glycogen storage disease, type II [RCV001064774] Chr17:80104803 [GRCh38]
Chr17:78078602 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1448G>T (p.Gly483Val) single nucleotide variant Glycogen storage disease, type II [RCV001123714] Chr17:80110737 [GRCh38]
Chr17:78084536 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1739C>T (p.Ala580Val) single nucleotide variant Glycogen storage disease, type II [RCV001064878] Chr17:80112085 [GRCh38]
Chr17:78085884 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.*264G>A single nucleotide variant Glycogen storage disease, type II [RCV001123906] Chr17:80119595 [GRCh38]
Chr17:78093394 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn) single nucleotide variant Glycogen storage disease, type II [RCV001050926]|not provided [RCV001759783] Chr17:80118797 [GRCh38]
Chr17:78092596 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu) single nucleotide variant Glycogen storage disease, type II [RCV001051159] Chr17:80109988 [GRCh38]
Chr17:78083787 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.*66G>A single nucleotide variant Glycogen storage disease, type II [RCV001122818] Chr17:80119397 [GRCh38]
Chr17:78093196 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2790C>T (p.Pro930=) single nucleotide variant Glycogen storage disease, type II [RCV001128526] Chr17:80118796 [GRCh38]
Chr17:78092595 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.368G>T (p.Gly123Val) single nucleotide variant Glycogen storage disease, type II [RCV001248095] Chr17:80104954 [GRCh38]
Chr17:78078753 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala) single nucleotide variant Cardiovascular phenotype [RCV003294028]|Glycogen storage disease, type II [RCV001213620]|not provided [RCV003130188] Chr17:80118308 [GRCh38]
Chr17:78092107 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) single nucleotide variant Cardiovascular phenotype [RCV002411745]|Glycogen storage disease, type II [RCV001203742] Chr17:80112654 [GRCh38]
Chr17:78086453 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) single nucleotide variant Glycogen storage disease, type II [RCV001233657]|not provided [RCV001507902] Chr17:80110826 [GRCh38]
Chr17:78084625 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1888+6_1888+14del deletion Glycogen storage disease, type II [RCV001232467] Chr17:80112717..80112725 [GRCh38]
Chr17:78086516..78086524 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1936G>A (p.Val646Ile) single nucleotide variant Glycogen storage disease, type II [RCV001245932]|not provided [RCV002292620] Chr17:80112923 [GRCh38]
Chr17:78086722 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys) single nucleotide variant Glycogen storage disease, type II [RCV001213230] Chr17:80112065 [GRCh38]
Chr17:78085864 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1669A>G (p.Ile557Val) single nucleotide variant Glycogen storage disease, type II [RCV001062538] Chr17:80112015 [GRCh38]
Chr17:78085814 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.608G>A (p.Arg203Gln) single nucleotide variant Glycogen storage disease, type II [RCV001052339] Chr17:80105810 [GRCh38]
Chr17:78079609 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup) duplication Glycogen storage disease, type II [RCV001200866] Chr17:80110014..80110015 [GRCh38]
Chr17:78083813..78083814 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2161del (p.Glu721fs) deletion Glycogen storage disease, type II [RCV001200868] Chr17:80113334 [GRCh38]
Chr17:78087133 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1317G>A (p.Met439Ile) single nucleotide variant Glycogen storage disease, type II [RCV001062884] Chr17:80108819 [GRCh38]
Chr17:78082618 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr) single nucleotide variant Glycogen storage disease, type II [RCV001215797] Chr17:80109993 [GRCh38]
Chr17:78083792 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1192del (p.Leu398fs) deletion not provided [RCV001090259] Chr17:80108601 [GRCh38]
Chr17:78082400 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2529G>A (p.Leu843=) single nucleotide variant Glycogen storage disease, type II [RCV001063182] Chr17:80118240 [GRCh38]
Chr17:78092039 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1437+2T>C single nucleotide variant Glycogen storage disease, type II [RCV001053248] Chr17:80110057 [GRCh38]
Chr17:78083856 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.316C>G (p.Arg106Gly) single nucleotide variant Glycogen storage disease, type II [RCV001042857] Chr17:80104902 [GRCh38]
Chr17:78078701 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe) single nucleotide variant Glycogen storage disease, type II [RCV001246777] Chr17:80112649 [GRCh38]
Chr17:78086448 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.759del (p.Ser254fs) deletion Glycogen storage disease, type II [RCV001039379]|not provided [RCV001784579] Chr17:80107621 [GRCh38]
Chr17:78081420 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) single nucleotide variant Glycogen storage disease, type II [RCV001063671] Chr17:80117084 [GRCh38]
Chr17:78090883 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys) single nucleotide variant Glycogen storage disease, type II [RCV001063896] Chr17:80110997 [GRCh38]
Chr17:78084796 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn) duplication Glycogen storage disease, type II [RCV001200869] Chr17:80110941..80110942 [GRCh38]
Chr17:78084740..78084741 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter) single nucleotide variant Glycogen storage disease, type II [RCV001263725] Chr17:80113307 [GRCh38]
Chr17:78087106 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter) single nucleotide variant Glycogen storage disease, type II [RCV001263724]|not provided [RCV001780215] Chr17:80110836 [GRCh38]
Chr17:78084635 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.917C>A (p.Ser306Ter) single nucleotide variant Glycogen storage disease, type II [RCV001263723] Chr17:80107858 [GRCh38]
Chr17:78081657 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) single nucleotide variant Glycogen storage disease, type II [RCV001263726] Chr17:80113320 [GRCh38]
Chr17:78087119 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter) single nucleotide variant Glycogen storage disease, type II [RCV001263815] Chr17:80118256 [GRCh38]
Chr17:78092055 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1336A>G (p.Ile446Val) single nucleotide variant Glycogen storage disease, type II [RCV001262437] Chr17:80109954 [GRCh38]
Chr17:78083753 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1A>T (p.Met1Leu) single nucleotide variant Glycogen storage disease, type II [RCV001265217] Chr17:80104587 [GRCh38]
Chr17:78078386 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2040G>A (p.Leu680=) single nucleotide variant Glycogen storage disease, type II [RCV001265222]|not provided [RCV003135906] Chr17:80113027 [GRCh38]
Chr17:78086826 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.763C>T (p.Gln255Ter) single nucleotide variant Glycogen storage disease, type II [RCV001265223] Chr17:80107627 [GRCh38]
Chr17:78081426 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2T>C (p.Met1Thr) single nucleotide variant Glycogen storage disease, type II [RCV001265227] Chr17:80104588 [GRCh38]
Chr17:78078387 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) single nucleotide variant Glycogen storage disease, type II [RCV001261939] Chr17:80108335 [GRCh38]
Chr17:78082134 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001283827]|Glycogen storage disease, type II [RCV001261625]|not provided [RCV001702092] Chr17:80112003 [GRCh38]
Chr17:78085802 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.860C>T (p.Pro287Leu) single nucleotide variant not specified [RCV001293491] Chr17:80107801 [GRCh38]
Chr17:78081600 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) single nucleotide variant Glycogen storage disease, type II [RCV001299694] Chr17:80105012 [GRCh38]
Chr17:78078811 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) single nucleotide variant Glycogen storage disease, type II [RCV001303805] Chr17:80116976 [GRCh38]
Chr17:78090775 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1254G>A (p.Lys418=) single nucleotide variant Glycogen storage disease, type II [RCV001305202] Chr17:80108756 [GRCh38]
Chr17:78082555 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.364A>G (p.Met122Val) single nucleotide variant Glycogen storage disease, type II [RCV001350022] Chr17:80104950 [GRCh38]
Chr17:78078749 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.955G>A (p.Asp319Asn) single nucleotide variant Glycogen storage disease, type II [RCV001308498] Chr17:80107896 [GRCh38]
Chr17:78081695 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1356del (p.Ser454fs) deletion Glycogen storage disease, type II [RCV001265221] Chr17:80109973 [GRCh38]
Chr17:78083772 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.546+2_546+5del deletion Glycogen storage disease, type II [RCV001261922]|not provided [RCV003482356] Chr17:80105132..80105135 [GRCh38]
Chr17:78078931..78078934 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) single nucleotide variant Glycogen storage disease, type II [RCV001297956]|not provided [RCV001536909] Chr17:80113287 [GRCh38]
Chr17:78087086 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1844G>T (p.Gly615Val) single nucleotide variant Glycogen storage disease, type II [RCV001298620] Chr17:80112667 [GRCh38]
Chr17:78086466 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_000152.5(GAA):c.2189+5_2189+8del microsatellite Glycogen storage disease, type II [RCV001261938] Chr17:80113365..80113368 [GRCh38]
Chr17:78087164..78087167 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) single nucleotide variant Glycogen storage disease, type II [RCV001261923]|not provided [RCV001780211] Chr17:80110734 [GRCh38]
Chr17:78084533 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1551+5G>A single nucleotide variant Glycogen storage disease, type II [RCV001261940] Chr17:80110845 [GRCh38]
Chr17:78084644 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.904G>T (p.Glu302Ter) single nucleotide variant Glycogen storage disease, type II [RCV001263722] Chr17:80107845 [GRCh38]
Chr17:78081644 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.26C>T (p.Ser9Phe) single nucleotide variant Glycogen storage disease, type II [RCV001313981] Chr17:80104612 [GRCh38]
Chr17:78078411 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.228_229insAGC (p.Ala77_Val78insSer) insertion Glycogen storage disease, type II [RCV001286264] Chr17:80104814..80104815 [GRCh38]
Chr17:78078613..78078614 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2803C>T (p.Leu935=) single nucleotide variant Glycogen storage disease, type II [RCV001280481] Chr17:80119275 [GRCh38]
Chr17:78093074 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2829G>A (p.Met943Ile) single nucleotide variant Glycogen storage disease, type II [RCV001314738] Chr17:80119301 [GRCh38]
Chr17:78093100 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.723T>G (p.Phe241Leu) single nucleotide variant Glycogen storage disease, type II [RCV001325613]|not provided [RCV001773650] Chr17:80107587 [GRCh38]
Chr17:78081386 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) single nucleotide variant Glycogen storage disease, type II [RCV001312414]|not provided [RCV003145549] Chr17:80105771 [GRCh38]
Chr17:78079570 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys) single nucleotide variant Glycogen storage disease, type II [RCV001295399] Chr17:80110983 [GRCh38]
Chr17:78084782 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.292A>T (p.Ile98Phe) single nucleotide variant Glycogen storage disease, type II [RCV001300862] Chr17:80104878 [GRCh38]
Chr17:78078677 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) single nucleotide variant Glycogen storage disease, type II [RCV001340781]|not provided [RCV003145584] Chr17:80108516 [GRCh38]
Chr17:78082315 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) single nucleotide variant Glycogen storage disease, type II [RCV001337394] Chr17:80108519 [GRCh38]
Chr17:78082318 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1327-7T>G single nucleotide variant Glycogen storage disease, type II [RCV001321518] Chr17:80109938 [GRCh38]
Chr17:78083737 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser) single nucleotide variant Glycogen storage disease, type II [RCV001372138] Chr17:80111022 [GRCh38]
Chr17:78084821 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) single nucleotide variant Glycogen storage disease, type II [RCV001353145]|not provided [RCV003136020] Chr17:80118789 [GRCh38]
Chr17:78092588 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NC_000017.10:g.(?_78086381)_78091497del deletion Glycogen storage disease, type II [RCV001379942]   likely pathogenic
NC_000017.10:g.(?_78091972)_(78092176_?)del deletion Glycogen storage disease, type II [RCV001384694] Chr17:78091972..78092176 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) deletion Glycogen storage disease, type II [RCV001388432]|not provided [RCV001785818] Chr17:80117673..80117691 [GRCh38]
Chr17:78091472..78091490 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1308del (p.Arg437fs) deletion Glycogen storage disease, type II [RCV001390361] Chr17:80108809 [GRCh38]
Chr17:78082608 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn) single nucleotide variant Glycogen storage disease, type II [RCV001270298] Chr17:80117702 [GRCh38]
Chr17:78091501 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1336dup (p.Ile446fs) duplication Glycogen storage disease, type II [RCV001380108] Chr17:80109953..80109954 [GRCh38]
Chr17:78083752..78083753 [GRCh37]
Chr17:17q25.3
pathogenic
NC_000017.10:g.(?_78091652)_78092189del deletion Glycogen storage disease, type II [RCV001384695]   pathogenic
NM_000152.5(GAA):c.282del (p.Asp95fs) deletion Glycogen storage disease, type II [RCV001387147] Chr17:80104868 [GRCh38]
Chr17:78078667 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1842G>C (p.Thr614=) single nucleotide variant Glycogen storage disease, type II [RCV001392867] Chr17:80112665 [GRCh38]
Chr17:78086464 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.693-10T>C single nucleotide variant Glycogen storage disease, type II [RCV001401674] Chr17:80107547 [GRCh38]
Chr17:78081346 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2643G>A (p.Arg881=) single nucleotide variant Glycogen storage disease, type II [RCV001406311] Chr17:80118354 [GRCh38]
Chr17:78092153 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2134C>T (p.Leu712=) single nucleotide variant Glycogen storage disease, type II [RCV001407877] Chr17:80113311 [GRCh38]
Chr17:78087110 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2697G>T (p.Leu899=) single nucleotide variant Glycogen storage disease, type II [RCV001409647] Chr17:80118703 [GRCh38]
Chr17:78092502 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2189+10C>T single nucleotide variant Glycogen storage disease, type II [RCV001409979] Chr17:80113376 [GRCh38]
Chr17:78087175 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.859-9A>G single nucleotide variant Glycogen storage disease, type II [RCV001417943] Chr17:80107791 [GRCh38]
Chr17:78081590 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1776G>C (p.Gly592=) single nucleotide variant Glycogen storage disease, type II [RCV001395509] Chr17:80112599 [GRCh38]
Chr17:78086398 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-4G>T single nucleotide variant Glycogen storage disease, type II [RCV001399018] Chr17:80108485 [GRCh38]
Chr17:78082284 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2268C>T (p.Leu756=) single nucleotide variant Glycogen storage disease, type II [RCV001402657] Chr17:80117046 [GRCh38]
Chr17:78090845 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1905C>T (p.Asn635=) single nucleotide variant Glycogen storage disease, type II [RCV001407504] Chr17:80112892 [GRCh38]
Chr17:78086691 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2211C>T (p.Thr737=) single nucleotide variant Glycogen storage disease, type II [RCV001408497] Chr17:80116989 [GRCh38]
Chr17:78090788 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.303A>G (p.Glu101=) single nucleotide variant Glycogen storage disease, type II [RCV001409670] Chr17:80104889 [GRCh38]
Chr17:78078688 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-5C>A single nucleotide variant Glycogen storage disease, type II [RCV001411895] Chr17:80109940 [GRCh38]
Chr17:78083739 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.955+5G>C single nucleotide variant Glycogen storage disease, type II [RCV001351248] Chr17:80107901 [GRCh38]
Chr17:78081700 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1551+1G>A single nucleotide variant Glycogen storage disease, type II [RCV001375542] Chr17:80110841 [GRCh38]
Chr17:78084640 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.-32-13T>C single nucleotide variant Glycogen storage disease, type II [RCV001325856]|not specified [RCV001844284] Chr17:80104542 [GRCh38]
Chr17:78078341 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.732G>C (p.Gln244His) single nucleotide variant Glycogen storage disease, type II [RCV001359163]|not provided [RCV003132459] Chr17:80107596 [GRCh38]
Chr17:78081395 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2043C>A (p.Pro681=) single nucleotide variant Glycogen storage disease, type II [RCV001422500] Chr17:80113220 [GRCh38]
Chr17:78087019 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) single nucleotide variant Glycogen storage disease, type II [RCV001302690]|not provided [RCV003145534] Chr17:80117074 [GRCh38]
Chr17:78090873 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.260A>G (p.Asn87Ser) single nucleotide variant Glycogen storage disease, type II [RCV001306727]|not provided [RCV003135947] Chr17:80104846 [GRCh38]
Chr17:78078645 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2721G>A (p.Leu907=) single nucleotide variant Glycogen storage disease, type II [RCV001433970] Chr17:80118727 [GRCh38]
Chr17:78092526 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.574G>A (p.Glu192Lys) single nucleotide variant Glycogen storage disease, type II [RCV001360975]|not provided [RCV001773716] Chr17:80105776 [GRCh38]
Chr17:78079575 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly) single nucleotide variant Glycogen storage disease, type II [RCV001362586] Chr17:80113022 [GRCh38]
Chr17:78086821 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr) single nucleotide variant Glycogen storage disease, type II [RCV001362588] Chr17:80113347 [GRCh38]
Chr17:78087146 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) single nucleotide variant Glycogen storage disease, type II [RCV001364120] Chr17:80105885 [GRCh38]
Chr17:78079684 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.706G>T (p.Val236Leu) single nucleotide variant Glycogen storage disease, type II [RCV001306509] Chr17:80107570 [GRCh38]
Chr17:78081369 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe) single nucleotide variant Glycogen storage disease, type II [RCV001306648] Chr17:80112693 [GRCh38]
Chr17:78086492 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2331+4A>C single nucleotide variant Glycogen storage disease, type II [RCV001345752] Chr17:80117113 [GRCh38]
Chr17:78090912 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.261C>G (p.Asn87Lys) single nucleotide variant Glycogen storage disease, type II [RCV001322949]|not provided [RCV001586125] Chr17:80104847 [GRCh38]
Chr17:78078646 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) single nucleotide variant Glycogen storage disease, type II [RCV001345891]|not specified [RCV003235554] Chr17:80117072 [GRCh38]
Chr17:78090871 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys) single nucleotide variant Glycogen storage disease, type II [RCV001345895] Chr17:80108578 [GRCh38]
Chr17:78082377 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78092582)_78096154del deletion Glycogen storage disease, type II [RCV001318736]   uncertain significance
NM_000152.5(GAA):c.314C>T (p.Ala105Val) single nucleotide variant Glycogen storage disease, type II [RCV001360748] Chr17:80104900 [GRCh38]
Chr17:78078699 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2112A>C (p.Ala704=) single nucleotide variant Glycogen storage disease, type II [RCV001280480] Chr17:80113289 [GRCh38]
Chr17:78087088 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1438G>A (p.Val480Ile) single nucleotide variant Glycogen storage disease, type II [RCV001324102]|not provided [RCV003135975] Chr17:80110727 [GRCh38]
Chr17:78084526 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro) single nucleotide variant Glycogen storage disease, type II [RCV001324110] Chr17:80112045 [GRCh38]
Chr17:78085844 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.769A>G (p.Ile257Val) single nucleotide variant Glycogen storage disease, type II [RCV001346841] Chr17:80107633 [GRCh38]
Chr17:78081432 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr) indel Glycogen storage disease, type II [RCV001371962] Chr17:80105869..80105870 [GRCh38]
Chr17:78079668..78079669 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr) single nucleotide variant Glycogen storage disease, type II [RCV001320484] Chr17:80117712 [GRCh38]
Chr17:78091511 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.446C>T (p.Thr149Met) single nucleotide variant Glycogen storage disease, type II [RCV001347336] Chr17:80105032 [GRCh38]
Chr17:78078831 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.*2C>T single nucleotide variant Glycogen storage disease, type II [RCV001280482]|not provided [RCV001751542] Chr17:80119333 [GRCh38]
Chr17:78093132 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu) single nucleotide variant Glycogen storage disease, type II [RCV001316991] Chr17:80109976 [GRCh38]
Chr17:78083775 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.956-3C>T single nucleotide variant Glycogen storage disease, type II [RCV001344253] Chr17:80108287 [GRCh38]
Chr17:78082086 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg) single nucleotide variant Glycogen storage disease, type II [RCV001359261] Chr17:80113255 [GRCh38]
Chr17:78087054 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.134C>T (p.Ser45Phe) single nucleotide variant Glycogen storage disease, type II [RCV001359778] Chr17:80104720 [GRCh38]
Chr17:78078519 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2819_2820insAG (p.Leu941fs) insertion Glycogen storage disease, type II [RCV001325003] Chr17:80119291..80119292 [GRCh38]
Chr17:78093090..78093091 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys) single nucleotide variant Glycogen storage disease, type II [RCV001321126] Chr17:80118728 [GRCh38]
Chr17:78092527 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1438-10C>G single nucleotide variant Glycogen storage disease, type II [RCV001368001] Chr17:80110717 [GRCh38]
Chr17:78084516 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.840_842dup (p.Arg281dup) duplication Glycogen storage disease, type II [RCV001345516] Chr17:80107703..80107704 [GRCh38]
Chr17:78081502..78081503 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.235C>T (p.Pro79Ser) single nucleotide variant Glycogen storage disease, type II [RCV001325135] Chr17:80104821 [GRCh38]
Chr17:78078620 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2745G>C (p.Gln915His) single nucleotide variant Glycogen storage disease, type II [RCV001363962] Chr17:80118751 [GRCh38]
Chr17:78092550 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys) single nucleotide variant Glycogen storage disease, type II [RCV001364490] Chr17:80113254 [GRCh38]
Chr17:78087053 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.683dup (p.Arg229fs) duplication Glycogen storage disease, type II [RCV001385617] Chr17:80105883..80105884 [GRCh38]
Chr17:78079682..78079683 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) deletion Glycogen storage disease, type II [RCV001385750] Chr17:80110968..80110969 [GRCh38]
Chr17:78084767..78084768 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter) single nucleotide variant Glycogen storage disease, type II [RCV001386359] Chr17:80110732 [GRCh38]
Chr17:78084531 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.759_763del (p.Ser254fs) deletion Glycogen storage disease, type II [RCV001386925] Chr17:80107622..80107626 [GRCh38]
Chr17:78081421..78081425 [GRCh37]
Chr17:17q25.3
pathogenic
NC_000017.10:g.(?_78090799)_78093893del deletion Glycogen storage disease, type II [RCV001387093]   pathogenic
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr) single nucleotide variant Glycogen storage disease, type II [RCV001326749]|not provided [RCV003145575] Chr17:80108346 [GRCh38]
Chr17:78082145 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) single nucleotide variant Glycogen storage disease, type II [RCV001358813] Chr17:80110990 [GRCh38]
Chr17:78084789 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2550T>C (p.Gly850=) single nucleotide variant Glycogen storage disease, type II [RCV001391752] Chr17:80118261 [GRCh38]
Chr17:78092060 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1338C>T (p.Ile446=) single nucleotide variant Glycogen storage disease, type II [RCV001392821] Chr17:80109956 [GRCh38]
Chr17:78083755 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2476C>T (p.Leu826=) single nucleotide variant Glycogen storage disease, type II [RCV001394199] Chr17:80117744 [GRCh38]
Chr17:78091543 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1551+7G>A single nucleotide variant Glycogen storage disease, type II [RCV001395575] Chr17:80110847 [GRCh38]
Chr17:78084646 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1797C>T (p.Ser599=) single nucleotide variant Cardiovascular phenotype [RCV002404925]|Glycogen storage disease, type II [RCV001398778] Chr17:80112620 [GRCh38]
Chr17:78086419 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.42C>T (p.Ala14=) single nucleotide variant Glycogen storage disease, type II [RCV001403256] Chr17:80104628 [GRCh38]
Chr17:78078427 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.252C>A (p.Val84=) single nucleotide variant Glycogen storage disease, type II [RCV001405660] Chr17:80104838 [GRCh38]
Chr17:78078637 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.72T>C (p.Ala24=) single nucleotide variant Glycogen storage disease, type II [RCV001408413] Chr17:80104658 [GRCh38]
Chr17:78078457 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+2_546+6dup duplication Glycogen storage disease, type II [RCV001411961] Chr17:80105133..80105134 [GRCh38]
Chr17:78078932..78078933 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1197C>T (p.Asp399=) single nucleotide variant Cardiovascular phenotype [RCV003160650]|Glycogen storage disease, type II [RCV001412773] Chr17:80108699 [GRCh38]
Chr17:78082498 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2451C>T (p.His817=) single nucleotide variant Glycogen storage disease, type II [RCV001414126] Chr17:80117719 [GRCh38]
Chr17:78091518 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2604G>A (p.Leu868=) single nucleotide variant Glycogen storage disease, type II [RCV001418476] Chr17:80118315 [GRCh38]
Chr17:78092114 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2700G>A (p.Gln900=) single nucleotide variant Glycogen storage disease, type II [RCV001419664] Chr17:80118706 [GRCh38]
Chr17:78092505 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1881C>T (p.Ser627=) single nucleotide variant Cardiovascular phenotype [RCV002411926]|Glycogen storage disease, type II [RCV001280479] Chr17:80112704 [GRCh38]
Chr17:78086503 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) single nucleotide variant Glycogen storage disease, type II [RCV001366845] Chr17:80104792 [GRCh38]
Chr17:78078591 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) single nucleotide variant Glycogen storage disease, type II [RCV001279298] Chr17:80108733 [GRCh38]
Chr17:78082532 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) single nucleotide variant Glycogen storage disease, type II [RCV001279299] Chr17:80112595 [GRCh38]
Chr17:78086394 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.32G>T (p.Arg11Leu) single nucleotide variant Glycogen storage disease, type II [RCV001367234] Chr17:80104618 [GRCh38]
Chr17:78078417 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) single nucleotide variant Glycogen storage disease, type II [RCV001378875]|not provided [RCV001780289] Chr17:80110734 [GRCh38]
Chr17:78084533 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter) single nucleotide variant Glycogen storage disease, type II [RCV001382744] Chr17:80108547 [GRCh38]
Chr17:78082346 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1176C>T (p.Thr392=) single nucleotide variant Glycogen storage disease, type II [RCV001394698] Chr17:80108589 [GRCh38]
Chr17:78082388 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2482-8C>T single nucleotide variant Glycogen storage disease, type II [RCV001396401] Chr17:80118185 [GRCh38]
Chr17:78091984 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.456G>C (p.Leu152=) single nucleotide variant Glycogen storage disease, type II [RCV001408532] Chr17:80105042 [GRCh38]
Chr17:78078841 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.618C>G (p.Ser206=) single nucleotide variant Glycogen storage disease, type II [RCV001408976] Chr17:80105820 [GRCh38]
Chr17:78079619 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+15dup duplication Glycogen storage disease, type II [RCV001410429] Chr17:80111034..80111035 [GRCh38]
Chr17:78084833..78084834 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1680C>T (p.Ser560=) single nucleotide variant Glycogen storage disease, type II [RCV001411170] Chr17:80112026 [GRCh38]
Chr17:78085825 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2148C>A (p.Ala716=) single nucleotide variant Glycogen storage disease, type II [RCV001418128] Chr17:80113325 [GRCh38]
Chr17:78087124 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2355C>T (p.Ser785=) single nucleotide variant Glycogen storage disease, type II [RCV001418963] Chr17:80117623 [GRCh38]
Chr17:78091422 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2525C>T (p.Ala842Val) single nucleotide variant Glycogen storage disease, type II [RCV001365475] Chr17:80118236 [GRCh38]
Chr17:78092035 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.610G>A (p.Ala204Thr) single nucleotide variant Glycogen storage disease, type II [RCV001494402] Chr17:80105812 [GRCh38]
Chr17:78079611 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1555A>G (p.Met519Val) single nucleotide variant Glycogen storage disease, type II [RCV001379276]|not provided [RCV002223308] Chr17:80110944 [GRCh38]
Chr17:78084743 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2167G>A (p.Val723Met) single nucleotide variant Glycogen storage disease, type II [RCV001383433]|not provided [RCV001780325] Chr17:80113344 [GRCh38]
Chr17:78087143 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.199del (p.Asp67fs) deletion Glycogen storage disease, type II [RCV001387378] Chr17:80104783 [GRCh38]
Chr17:78078582 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2173del (p.Arg725fs) deletion Glycogen storage disease, type II [RCV001389228] Chr17:80113348 [GRCh38]
Chr17:78087147 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2040+8G>A single nucleotide variant Glycogen storage disease, type II [RCV001393610] Chr17:80113035 [GRCh38]
Chr17:78086834 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1218C>T (p.Asp406=) single nucleotide variant Glycogen storage disease, type II [RCV001395155] Chr17:80108720 [GRCh38]
Chr17:78082519 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.921A>C (p.Ala307=) single nucleotide variant Glycogen storage disease, type II [RCV001397392] Chr17:80107862 [GRCh38]
Chr17:78081661 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2646+8C>A single nucleotide variant Glycogen storage disease, type II [RCV001397542] Chr17:80118365 [GRCh38]
Chr17:78092164 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-7T>C single nucleotide variant Glycogen storage disease, type II [RCV001398153] Chr17:80110720 [GRCh38]
Chr17:78084519 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2172C>T (p.Ala724=) single nucleotide variant Glycogen storage disease, type II [RCV001398247] Chr17:80113349 [GRCh38]
Chr17:78087148 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2403G>A (p.Glu801=) single nucleotide variant Glycogen storage disease, type II [RCV001399111] Chr17:80117671 [GRCh38]
Chr17:78091470 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2520C>T (p.Pro840=) single nucleotide variant Glycogen storage disease, type II [RCV001403014] Chr17:80118231 [GRCh38]
Chr17:78092030 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+8G>T single nucleotide variant Glycogen storage disease, type II [RCV001404676] Chr17:80108615 [GRCh38]
Chr17:78082414 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1116C>T (p.His372=) single nucleotide variant Glycogen storage disease, type II [RCV001406890] Chr17:80108529 [GRCh38]
Chr17:78082328 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2772C>T (p.Ser924=) single nucleotide variant Glycogen storage disease, type II [RCV001408557] Chr17:80118778 [GRCh38]
Chr17:78092577 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.340_341insT (p.Lys114fs) insertion Glycogen storage disease, type II [RCV001380266] Chr17:80104926..80104927 [GRCh38]
Chr17:78078725..78078726 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) single nucleotide variant Glycogen storage disease, type II [RCV001380442] Chr17:80108716 [GRCh38]
Chr17:78082515 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs) duplication Glycogen storage disease, type II [RCV001380685] Chr17:80110945..80110946 [GRCh38]
Chr17:78084744..78084745 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1704dup (p.Tyr569fs) duplication Glycogen storage disease, type II [RCV001380849] Chr17:80112049..80112050 [GRCh38]
Chr17:78085848..78085849 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter) single nucleotide variant Glycogen storage disease, type II [RCV001382470] Chr17:80112974 [GRCh38]
Chr17:78086773 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.766_784del (p.Tyr256fs) deletion Glycogen storage disease, type II [RCV001384033] Chr17:80107629..80107647 [GRCh38]
Chr17:78081428..78081446 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1976_1977del (p.Val659fs) microsatellite Glycogen storage disease, type II [RCV001384992]|not provided [RCV003145651] Chr17:80112957..80112958 [GRCh38]
Chr17:78086756..78086757 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1455T>G (p.Thr485=) single nucleotide variant Glycogen storage disease, type II [RCV001490219] Chr17:80110744 [GRCh38]
Chr17:78084543 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1044G>A (p.Lys348=) single nucleotide variant Cardiovascular phenotype [RCV002405111]|Glycogen storage disease, type II [RCV001472998] Chr17:80108378 [GRCh38]
Chr17:78082177 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1695C>G (p.Leu565=) single nucleotide variant Glycogen storage disease, type II [RCV001457982] Chr17:80112041 [GRCh38]
Chr17:78085840 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.84G>A (p.Gly28=) single nucleotide variant Glycogen storage disease, type II [RCV001453938] Chr17:80104670 [GRCh38]
Chr17:78078469 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2595G>A (p.Leu865=) single nucleotide variant Glycogen storage disease, type II [RCV001470350] Chr17:80118306 [GRCh38]
Chr17:78092105 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1239C>T (p.Asp413=) single nucleotide variant Glycogen storage disease, type II [RCV001462311] Chr17:80108741 [GRCh38]
Chr17:78082540 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2559C>G (p.Ala853=) single nucleotide variant Cardiovascular phenotype [RCV002432353]|Glycogen storage disease, type II [RCV001482569] Chr17:80118270 [GRCh38]
Chr17:78092069 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1122C>T (p.Cys374=) single nucleotide variant Glycogen storage disease, type II [RCV001430491] Chr17:80108535 [GRCh38]
Chr17:78082334 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.942C>T (p.Asn314=) single nucleotide variant Glycogen storage disease, type II [RCV001504729] Chr17:80107883 [GRCh38]
Chr17:78081682 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1105C>T (p.Leu369=) single nucleotide variant Glycogen storage disease, type II [RCV001470380] Chr17:80108518 [GRCh38]
Chr17:78082317 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1674T>C (p.Cys558=) single nucleotide variant Glycogen storage disease, type II [RCV001465488] Chr17:80112020 [GRCh38]
Chr17:78085819 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.543C>T (p.Phe181=) single nucleotide variant Glycogen storage disease, type II [RCV001504763] Chr17:80105129 [GRCh38]
Chr17:78078928 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1416C>A (p.Thr472=) single nucleotide variant Glycogen storage disease, type II [RCV001496522] Chr17:80110034 [GRCh38]
Chr17:78083833 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.583T>C (p.Leu195=) single nucleotide variant Glycogen storage disease, type II [RCV001503304] Chr17:80105785 [GRCh38]
Chr17:78079584 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2646+8del deletion Glycogen storage disease, type II [RCV001454414] Chr17:80118364 [GRCh38]
Chr17:78092163 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1637-185A>G single nucleotide variant Glycogen storage disease, type II [RCV001527135]|not provided [RCV001536763] Chr17:80111798 [GRCh38]
Chr17:78085597 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1935C>T (p.Asp645=) single nucleotide variant Glycogen storage disease, type II [RCV001465908] Chr17:80112922 [GRCh38]
Chr17:78086721 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.753G>T (p.Ser251=) single nucleotide variant Glycogen storage disease, type II [RCV001439269] Chr17:80107617 [GRCh38]
Chr17:78081416 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2118C>G (p.Leu706=) single nucleotide variant Glycogen storage disease, type II [RCV001442015] Chr17:80113295 [GRCh38]
Chr17:78087094 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2178C>A (p.Pro726=) single nucleotide variant Cardiovascular phenotype [RCV002432265]|Glycogen storage disease, type II [RCV001455402] Chr17:80113355 [GRCh38]
Chr17:78087154 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1602C>A (p.Pro534=) single nucleotide variant Glycogen storage disease, type II [RCV001502952] Chr17:80110991 [GRCh38]
Chr17:78084790 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.753G>A (p.Ser251=) single nucleotide variant Glycogen storage disease, type II [RCV001505513] Chr17:80107617 [GRCh38]
Chr17:78081416 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.108G>A (p.Leu36=) single nucleotide variant Glycogen storage disease, type II [RCV001471699] Chr17:80104694 [GRCh38]
Chr17:78078493 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1959C>T (p.Thr653=) single nucleotide variant Glycogen storage disease, type II [RCV001475634] Chr17:80112946 [GRCh38]
Chr17:78086745 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1080C>T (p.Tyr360=) single nucleotide variant Glycogen storage disease, type II [RCV001492837] Chr17:80108493 [GRCh38]
Chr17:78082292 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2409G>A (p.Gln803=) single nucleotide variant Glycogen storage disease, type II [RCV001480532] Chr17:80117677 [GRCh38]
Chr17:78091476 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1182C>T (p.Ala394=) single nucleotide variant Glycogen storage disease, type II [RCV001459745] Chr17:80108595 [GRCh38]
Chr17:78082394 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.91C>T (p.Leu31=) single nucleotide variant Glycogen storage disease, type II [RCV001471846] Chr17:80104677 [GRCh38]
Chr17:78078476 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2481+7G>A single nucleotide variant Glycogen storage disease, type II [RCV001492880] Chr17:80117756 [GRCh38]
Chr17:78091555 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1776G>A (p.Gly592=) single nucleotide variant Glycogen storage disease, type II [RCV001456098] Chr17:80112599 [GRCh38]
Chr17:78086398 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.750C>T (p.Thr250=) single nucleotide variant Glycogen storage disease, type II [RCV001500553] Chr17:80107614 [GRCh38]
Chr17:78081413 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.2665C>T (p.Leu889=) single nucleotide variant Glycogen storage disease, type II [RCV001504261] Chr17:80118671 [GRCh38]
Chr17:78092470 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1293G>T (p.Leu431=) single nucleotide variant Glycogen storage disease, type II [RCV001466913] Chr17:80108795 [GRCh38]
Chr17:78082594 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2646+9T>C single nucleotide variant Glycogen storage disease, type II [RCV001500672] Chr17:80118366 [GRCh38]
Chr17:78092165 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.726G>C (p.Ala242=) single nucleotide variant Glycogen storage disease, type II [RCV001472193] Chr17:80107590 [GRCh38]
Chr17:78081389 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1554C>T (p.Asp518=) single nucleotide variant Glycogen storage disease, type II [RCV001426557] Chr17:80110943 [GRCh38]
Chr17:78084742 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1716C>T (p.His572=) single nucleotide variant Glycogen storage disease, type II [RCV001493257] Chr17:80112062 [GRCh38]
Chr17:78085861 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1539C>T (p.Asp513=) single nucleotide variant Glycogen storage disease, type II [RCV001423839] Chr17:80110828 [GRCh38]
Chr17:78084627 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1056G>A (p.Gln352=) single nucleotide variant Glycogen storage disease, type II [RCV001426786] Chr17:80108390 [GRCh38]
Chr17:78082189 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.792C>G (p.Leu264=) single nucleotide variant Glycogen storage disease, type II [RCV001501263] Chr17:80107656 [GRCh38]
Chr17:78081455 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2610A>G (p.Arg870=) single nucleotide variant Glycogen storage disease, type II [RCV001501354] Chr17:80118321 [GRCh38]
Chr17:78092120 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-4G>A single nucleotide variant Glycogen storage disease, type II [RCV001438223] Chr17:80113214 [GRCh38]
Chr17:78087013 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1195-5T>C single nucleotide variant Glycogen storage disease, type II [RCV001424503] Chr17:80108692 [GRCh38]
Chr17:78082491 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-7C>T single nucleotide variant Glycogen storage disease, type II [RCV001443232] Chr17:80113211 [GRCh38]
Chr17:78087010 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1323C>T (p.Ile441=) single nucleotide variant Glycogen storage disease, type II [RCV001448469] Chr17:80108825 [GRCh38]
Chr17:78082624 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1637-9C>T single nucleotide variant Glycogen storage disease, type II [RCV001438408] Chr17:80111974 [GRCh38]
Chr17:78085773 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2647-8C>G single nucleotide variant Glycogen storage disease, type II [RCV001430315] Chr17:80118645 [GRCh38]
Chr17:78092444 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2415G>T (p.Val805=) single nucleotide variant Cardiovascular phenotype [RCV002449166]|Glycogen storage disease, type II [RCV001430353] Chr17:80117683 [GRCh38]
Chr17:78091482 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.621A>G (p.Pro207=) single nucleotide variant Glycogen storage disease, type II [RCV001440950] Chr17:80105823 [GRCh38]
Chr17:78079622 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+7_858+8insACCGGGC insertion Glycogen storage disease, type II [RCV001427839] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1754+9C>G single nucleotide variant Glycogen storage disease, type II [RCV001448971] Chr17:80112109 [GRCh38]
Chr17:78085908 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1110C>T (p.Gly370=) single nucleotide variant Glycogen storage disease, type II [RCV001432893] Chr17:80108523 [GRCh38]
Chr17:78082322 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2482-8C>A single nucleotide variant Glycogen storage disease, type II [RCV001446559] Chr17:80118185 [GRCh38]
Chr17:78091984 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1155C>T (p.Arg385=) single nucleotide variant Glycogen storage disease, type II [RCV001441566] Chr17:80108568 [GRCh38]
Chr17:78082367 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1065G>A (p.Leu355=) single nucleotide variant Glycogen storage disease, type II [RCV001444273] Chr17:80108399 [GRCh38]
Chr17:78082198 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+4G>C single nucleotide variant Glycogen storage disease, type II [RCV001430577] Chr17:80105136 [GRCh38]
Chr17:78078935 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.594G>A (p.Pro198=) single nucleotide variant Cardiovascular phenotype [RCV003375304]|Glycogen storage disease, type II [RCV001446882] Chr17:80105796 [GRCh38]
Chr17:78079595 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.204C>T (p.Ala68=) single nucleotide variant Glycogen storage disease, type II [RCV001437566] Chr17:80104790 [GRCh38]
Chr17:78078589 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.603C>T (p.His201=) single nucleotide variant Cardiovascular phenotype [RCV002358960]|Glycogen storage disease, type II [RCV001428783] Chr17:80105805 [GRCh38]
Chr17:78079604 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2289G>A (p.Val763=) single nucleotide variant Glycogen storage disease, type II [RCV001429339] Chr17:80117067 [GRCh38]
Chr17:78090866 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.300G>A (p.Gln100=) single nucleotide variant Glycogen storage disease, type II [RCV001441943] Chr17:80104886 [GRCh38]
Chr17:78078685 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2325G>A (p.Leu775=) single nucleotide variant Cardiovascular phenotype [RCV002449204]|Glycogen storage disease, type II [RCV001447293] Chr17:80117103 [GRCh38]
Chr17:78090902 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1195-9T>C single nucleotide variant Glycogen storage disease, type II [RCV001447333] Chr17:80108688 [GRCh38]
Chr17:78082487 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.816C>T (p.Ser272=) single nucleotide variant Glycogen storage disease, type II [RCV001437939] Chr17:80107680 [GRCh38]
Chr17:78081479 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.264C>T (p.Ser88=) single nucleotide variant Glycogen storage disease, type II [RCV001442798] Chr17:80104850 [GRCh38]
Chr17:78078649 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.783C>A (p.Ala261=) single nucleotide variant Glycogen storage disease, type II [RCV001445187] Chr17:80107647 [GRCh38]
Chr17:78081446 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+10C>A single nucleotide variant Glycogen storage disease, type II [RCV001445499] Chr17:80111035 [GRCh38]
Chr17:78084834 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2482-8C>G single nucleotide variant Glycogen storage disease, type II [RCV001438127] Chr17:80118185 [GRCh38]
Chr17:78091984 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.849T>C (p.Leu283=) single nucleotide variant Glycogen storage disease, type II [RCV001440455] Chr17:80107713 [GRCh38]
Chr17:78081512 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.624C>G (p.Leu208=) single nucleotide variant Glycogen storage disease, type II [RCV001439202] Chr17:80105826 [GRCh38]
Chr17:78079625 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2178C>T (p.Pro726=) single nucleotide variant Cardiovascular phenotype [RCV002432232]|Glycogen storage disease, type II [RCV001442943] Chr17:80113355 [GRCh38]
Chr17:78087154 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.627C>T (p.Tyr209=) single nucleotide variant Glycogen storage disease, type II [RCV001427491] Chr17:80105829 [GRCh38]
Chr17:78079628 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1140C>A (p.Ser380=) single nucleotide variant Glycogen storage disease, type II [RCV001464235] Chr17:80108553 [GRCh38]
Chr17:78082352 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1464C>T (p.Pro488=) single nucleotide variant Glycogen storage disease, type II [RCV001493976] Chr17:80110753 [GRCh38]
Chr17:78084552 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.408C>T (p.Tyr136=) single nucleotide variant Glycogen storage disease, type II [RCV001457469] Chr17:80104994 [GRCh38]
Chr17:78078793 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2142C>T (p.His714=) single nucleotide variant Glycogen storage disease, type II [RCV001495284] Chr17:80113319 [GRCh38]
Chr17:78087118 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2057G>A (p.Ser686Asn) single nucleotide variant not provided [RCV001507904] Chr17:80113234 [GRCh38]
Chr17:78087033 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1086C>T (p.Phe362=) single nucleotide variant Glycogen storage disease, type II [RCV001478897] Chr17:80108499 [GRCh38]
Chr17:78082298 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.859-4C>T single nucleotide variant Glycogen storage disease, type II [RCV001461855] Chr17:80107796 [GRCh38]
Chr17:78081595 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1683C>T (p.Ser561=) single nucleotide variant Glycogen storage disease, type II [RCV001450950] Chr17:80112029 [GRCh38]
Chr17:78085828 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1986C>T (p.Thr662=) single nucleotide variant Glycogen storage disease, type II [RCV001490758] Chr17:80112973 [GRCh38]
Chr17:78086772 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-315del deletion not provided [RCV001679611] Chr17:80109625 [GRCh38]
Chr17:78083424 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1095A>G (p.Pro365=) single nucleotide variant Cardiovascular phenotype [RCV003375305]|Glycogen storage disease, type II [RCV001451425] Chr17:80108508 [GRCh38]
Chr17:78082307 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1137C>G (p.Ser379=) single nucleotide variant Glycogen storage disease, type II [RCV001458451] Chr17:80108550 [GRCh38]
Chr17:78082349 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.708G>T (p.Val236=) single nucleotide variant Glycogen storage disease, type II [RCV001499539] Chr17:80107572 [GRCh38]
Chr17:78081371 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+284G>C single nucleotide variant not provided [RCV001643390] Chr17:80111309 [GRCh38]
Chr17:78085108 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2205T>C (p.Ser735=) single nucleotide variant Cardiovascular phenotype [RCV002432294]|Glycogen storage disease, type II [RCV001462795] Chr17:80116983 [GRCh38]
Chr17:78090782 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2189+95C>T single nucleotide variant Glycogen storage disease, type II [RCV001527104]|not provided [RCV001615221] Chr17:80113461 [GRCh38]
Chr17:78087260 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1438-108G>A single nucleotide variant Glycogen storage disease, type II [RCV001527133]|not provided [RCV001712948] Chr17:80110619 [GRCh38]
Chr17:78084418 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1754+104C>G single nucleotide variant Glycogen storage disease, type II [RCV001527136]|not provided [RCV001655793] Chr17:80112204 [GRCh38]
Chr17:78086003 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2040+66C>T single nucleotide variant Glycogen storage disease, type II [RCV001527138] Chr17:80113093 [GRCh38]
Chr17:78086892 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2040+11_2040+18dup duplication Glycogen storage disease, type II [RCV001451776] Chr17:80113035..80113036 [GRCh38]
Chr17:78086834..78086835 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+84C>G single nucleotide variant not provided [RCV001538709] Chr17:80117193 [GRCh38]
Chr17:78090992 [GRCh37]
Chr17:17q25.3
likely benign|conflicting interpretations of pathogenicity
NM_000152.5(GAA):c.1636+269C>T single nucleotide variant not provided [RCV001613901] Chr17:80111294 [GRCh38]
Chr17:78085093 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2070G>A (p.Pro690=) single nucleotide variant Cardiovascular phenotype [RCV002421093]|Glycogen storage disease, type II [RCV001476827] Chr17:80113247 [GRCh38]
Chr17:78087046 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1551+10G>T single nucleotide variant Glycogen storage disease, type II [RCV001477024] Chr17:80110850 [GRCh38]
Chr17:78084649 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1347G>C (p.Ser449=) single nucleotide variant Glycogen storage disease, type II [RCV001480267] Chr17:80109965 [GRCh38]
Chr17:78083764 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1437+7C>G single nucleotide variant Glycogen storage disease, type II [RCV001497386] Chr17:80110062 [GRCh38]
Chr17:78083861 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1815C>T (p.Gly605=) single nucleotide variant Cardiovascular phenotype [RCV002414127]|Glycogen storage disease, type II [RCV001470134]|not provided [RCV001587424] Chr17:80112638 [GRCh38]
Chr17:78086437 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2367A>G (p.Pro789=) single nucleotide variant Glycogen storage disease, type II [RCV001483863] Chr17:80117635 [GRCh38]
Chr17:78091434 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2124C>T (p.His708=) single nucleotide variant Cardiovascular phenotype [RCV002421023]|Glycogen storage disease, type II [RCV001452717] Chr17:80113301 [GRCh38]
Chr17:78087100 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2608C>A (p.Arg870=) single nucleotide variant Cardiovascular phenotype [RCV002439148]|Glycogen storage disease, type II [RCV001480556] Chr17:80118319 [GRCh38]
Chr17:78092118 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1212C>T (p.Asp404=) single nucleotide variant Glycogen storage disease, type II [RCV001456486] Chr17:80108714 [GRCh38]
Chr17:78082513 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1710C>T (p.Asn570=) single nucleotide variant Glycogen storage disease, type II [RCV001504582] Chr17:80112056 [GRCh38]
Chr17:78085855 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1711C>T (p.Leu571=) single nucleotide variant Glycogen storage disease, type II [RCV001477513] Chr17:80112057 [GRCh38]
Chr17:78085856 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2235G>A (p.Leu745=) single nucleotide variant Cardiovascular phenotype [RCV003160846]|Glycogen storage disease, type II [RCV001456188] Chr17:80117013 [GRCh38]
Chr17:78090812 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.708G>A (p.Val236=) single nucleotide variant Glycogen storage disease, type II [RCV001501226] Chr17:80107572 [GRCh38]
Chr17:78081371 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2800-10T>C single nucleotide variant Glycogen storage disease, type II [RCV001456567] Chr17:80119262 [GRCh38]
Chr17:78093061 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2118C>T (p.Leu706=) single nucleotide variant Cardiovascular phenotype [RCV003160895]|Glycogen storage disease, type II [RCV001467674] Chr17:80113295 [GRCh38]
Chr17:78087094 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1650G>A (p.Gly550=) single nucleotide variant Glycogen storage disease, type II [RCV001468142] Chr17:80111996 [GRCh38]
Chr17:78085795 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1656C>A (p.Leu552=) single nucleotide variant Glycogen storage disease, type II [RCV001427287] Chr17:80112002 [GRCh38]
Chr17:78085801 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1552-8T>C single nucleotide variant Glycogen storage disease, type II [RCV001490260] Chr17:80110933 [GRCh38]
Chr17:78084732 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.525T>C (p.Thr175=) single nucleotide variant Glycogen storage disease, type II [RCV001428742] Chr17:80105111 [GRCh38]
Chr17:78078910 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+9G>A single nucleotide variant Glycogen storage disease, type II [RCV001495713] Chr17:80111034 [GRCh38]
Chr17:78084833 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.681C>T (p.Asp227=) single nucleotide variant Cardiovascular phenotype [RCV002368460]|Glycogen storage disease, type II [RCV001477725]|not provided [RCV001726566] Chr17:80105883 [GRCh38]
Chr17:78079682 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2553G>C (p.Gly851=) single nucleotide variant Cardiovascular phenotype [RCV002456904]|Glycogen storage disease, type II [RCV001500106] Chr17:80118264 [GRCh38]
Chr17:78092063 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.423G>T (p.Leu141=) single nucleotide variant Glycogen storage disease, type II [RCV001506131] Chr17:80105009 [GRCh38]
Chr17:78078808 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.879G>A (p.Gly293=) single nucleotide variant Glycogen storage disease, type II [RCV001428912] Chr17:80107820 [GRCh38]
Chr17:78081619 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2163G>A (p.Glu721=) single nucleotide variant Glycogen storage disease, type II [RCV001491175] Chr17:80113340 [GRCh38]
Chr17:78087139 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.78C>T (p.Leu26=) single nucleotide variant Glycogen storage disease, type II [RCV001503318] Chr17:80104664 [GRCh38]
Chr17:78078463 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.231A>G (p.Ala77=) single nucleotide variant Cardiovascular phenotype [RCV002449295]|Glycogen storage disease, type II [RCV001491469]|not provided [RCV001575082] Chr17:80104817 [GRCh38]
Chr17:78078616 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2392A>G (p.Ile798Val) single nucleotide variant Glycogen storage disease, type II [RCV001468883] Chr17:80117660 [GRCh38]
Chr17:78091459 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1639G>A (p.Val547Met) single nucleotide variant Glycogen storage disease, type II [RCV001889032] Chr17:80111985 [GRCh38]
Chr17:78085784 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.996G>A (p.Ser332=) single nucleotide variant Glycogen storage disease, type II [RCV001432087] Chr17:80108330 [GRCh38]
Chr17:78082129 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.132C>T (p.Gly44=) single nucleotide variant Glycogen storage disease, type II [RCV001496435] Chr17:80104718 [GRCh38]
Chr17:78078517 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1377C>T (p.Asp459=) single nucleotide variant Cardiovascular phenotype [RCV003161043]|Glycogen storage disease, type II [RCV001510782] Chr17:80109995 [GRCh38]
Chr17:78083794 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.1926C>T (p.Val642=) single nucleotide variant Cardiovascular phenotype [RCV002414097]|Glycogen storage disease, type II [RCV001457350] Chr17:80112913 [GRCh38]
Chr17:78086712 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+48C>A single nucleotide variant Glycogen storage disease, type II [RCV001527106] Chr17:80117157 [GRCh38]
Chr17:78090956 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1754+144C>T single nucleotide variant Glycogen storage disease, type II [RCV001527137]|not provided [RCV001658239] Chr17:80112244 [GRCh38]
Chr17:78086043 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.276C>T (p.Cys92=) single nucleotide variant Cardiovascular phenotype [RCV002439037]|Glycogen storage disease, type II [RCV001440422]|not provided [RCV001726555] Chr17:80104862 [GRCh38]
Chr17:78078661 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2115C>T (p.Leu705=) single nucleotide variant Glycogen storage disease, type II [RCV001453885] Chr17:80113292 [GRCh38]
Chr17:78087091 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1906C>T (p.Leu636=) single nucleotide variant Glycogen storage disease, type II [RCV001466037] Chr17:80112893 [GRCh38]
Chr17:78086692 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1326+8C>T single nucleotide variant Glycogen storage disease, type II [RCV001483358] Chr17:80108836 [GRCh38]
Chr17:78082635 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.859-5C>T single nucleotide variant Glycogen storage disease, type II [RCV001467767] Chr17:80107795 [GRCh38]
Chr17:78081594 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1458C>T (p.Ala486=) single nucleotide variant Glycogen storage disease, type II [RCV001498355] Chr17:80110747 [GRCh38]
Chr17:78084546 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2647-71G>C single nucleotide variant Glycogen storage disease, type II [RCV001527107]|not provided [RCV001712946] Chr17:80118582 [GRCh38]
Chr17:78092381 [GRCh37]
Chr17:17q25.3
benign|likely benign
NM_000152.5(GAA):c.75A>G (p.Ala25=) single nucleotide variant Glycogen storage disease, type II [RCV001454402] Chr17:80104661 [GRCh38]
Chr17:78078460 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2175G>T (p.Arg725=) single nucleotide variant Glycogen storage disease, type II [RCV001425756] Chr17:80113352 [GRCh38]
Chr17:78087151 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1719C>T (p.Asn573=) single nucleotide variant Glycogen storage disease, type II [RCV001425822] Chr17:80112065 [GRCh38]
Chr17:78085864 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2793C>T (p.Asp931=) single nucleotide variant Glycogen storage disease, type II [RCV001466288] Chr17:80118799 [GRCh38]
Chr17:78092598 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.663C>A (p.Ile221=) single nucleotide variant Glycogen storage disease, type II [RCV001432744] Chr17:80105865 [GRCh38]
Chr17:78079664 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2466C>T (p.Tyr822=) single nucleotide variant Glycogen storage disease, type II [RCV001463365] Chr17:80117734 [GRCh38]
Chr17:78091533 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2769C>T (p.Val923=) single nucleotide variant Glycogen storage disease, type II [RCV001463383] Chr17:80118775 [GRCh38]
Chr17:78092574 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.159C>T (p.His53=) single nucleotide variant Glycogen storage disease, type II [RCV001466430] Chr17:80104745 [GRCh38]
Chr17:78078544 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2496A>G (p.Thr832=) single nucleotide variant Glycogen storage disease, type II [RCV001505529] Chr17:80118207 [GRCh38]
Chr17:78092006 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2043C>T (p.Pro681=) single nucleotide variant Glycogen storage disease, type II [RCV001441069] Chr17:80113220 [GRCh38]
Chr17:78087019 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1704C>T (p.His568=) single nucleotide variant Cardiovascular phenotype [RCV003298794]|Glycogen storage disease, type II [RCV001459415] Chr17:80112050 [GRCh38]
Chr17:78085849 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.843G>A (p.Arg281=) single nucleotide variant Glycogen storage disease, type II [RCV001426498] Chr17:80107707 [GRCh38]
Chr17:78081506 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1551+7G>T single nucleotide variant Glycogen storage disease, type II [RCV001504239] Chr17:80110847 [GRCh38]
Chr17:78084646 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.972G>C (p.Pro324=) single nucleotide variant Glycogen storage disease, type II [RCV001485536] Chr17:80108306 [GRCh38]
Chr17:78082105 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1755-186A>G single nucleotide variant not provided [RCV001537003] Chr17:80112392 [GRCh38]
Chr17:78086191 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2189+9C>G single nucleotide variant Glycogen storage disease, type II [RCV001425076] Chr17:80113375 [GRCh38]
Chr17:78087174 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.599T>A (p.Val200Asp) single nucleotide variant Glycogen storage disease, type II [RCV003108472] Chr17:80105801 [GRCh38]
Chr17:78079600 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2051C>A (p.Pro684Gln) single nucleotide variant not specified [RCV002238554] Chr17:80113228 [GRCh38]
Chr17:78087027 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78075324)_(78093682_?)dup duplication not specified [RCV002238555] Chr17:78075324..78093682 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2332-2A>G single nucleotide variant Glycogen storage disease, type II [RCV002034486]|not provided [RCV001774199] Chr17:80117598 [GRCh38]
Chr17:78091397 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.1129_1130delinsC (p.Gly377fs) indel not provided [RCV001783322] Chr17:80108542..80108543 [GRCh38]
Chr17:78082341..78082342 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1853_1854insAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCA (p.Trp618Ter) insertion not provided [RCV001783326] Chr17:80112676..80112677 [GRCh38]
Chr17:78086475..78086476 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter) single nucleotide variant not provided [RCV001783331] Chr17:80118334 [GRCh38]
Chr17:78092133 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1438-2A>C single nucleotide variant not provided [RCV001783332] Chr17:80110725 [GRCh38]
Chr17:78084524 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2800-2A>G single nucleotide variant not provided [RCV001772837] Chr17:80119270 [GRCh38]
Chr17:78093069 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1834C>A (p.His612Asn) single nucleotide variant Glycogen storage disease, type II [RCV002251274] Chr17:80112657 [GRCh38]
Chr17:78086456 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.748A>G (p.Thr250Ala) single nucleotide variant not provided [RCV001767166] Chr17:80107612 [GRCh38]
Chr17:78081411 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.766_770del (p.Tyr256fs) deletion not provided [RCV001783323] Chr17:80107630..80107634 [GRCh38]
Chr17:78081429..78081433 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2431del (p.Leu811fs) deletion not provided [RCV001783333] Chr17:80117694 [GRCh38]
Chr17:78091493 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2481+109_2481+110insGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGT insertion not provided [RCV001783335] Chr17:80117858..80117859 [GRCh38]
Chr17:78091657..78091658 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1754+11_1754+12del deletion not provided [RCV001783336] Chr17:80112111..80112112 [GRCh38]
Chr17:78085910..78085911 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.29del (p.His10fs) deletion not provided [RCV001785857] Chr17:80104615 [GRCh38]
Chr17:78078414 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1559del (p.Asn520fs) deletion Glycogen storage disease, type II [RCV002541145]|not provided [RCV001785859] Chr17:80110947 [GRCh38]
Chr17:78084746 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2599G>C (p.Val867Leu) single nucleotide variant not provided [RCV001770837] Chr17:80118310 [GRCh38]
Chr17:78092109 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2280_2281insA (p.Ala761fs) insertion not provided [RCV001783321] Chr17:80117058..80117059 [GRCh38]
Chr17:78090857..78090858 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1494G>A (p.Trp498Ter) single nucleotide variant not provided [RCV001783327] Chr17:80110783 [GRCh38]
Chr17:78084582 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2466C>G (p.Tyr822Ter) single nucleotide variant not provided [RCV001783337] Chr17:80117734 [GRCh38]
Chr17:78091533 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2055C>A (p.Tyr685Ter) single nucleotide variant not provided [RCV001783340] Chr17:80113232 [GRCh38]
Chr17:78087031 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1377C>G (p.Asp459Glu) single nucleotide variant not provided [RCV001786986] Chr17:80109995 [GRCh38]
Chr17:78083794 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2431dup (p.Leu811fs) duplication Glycogen storage disease, type II [RCV002034563]|not provided [RCV001783325] Chr17:80117693..80117694 [GRCh38]
Chr17:78091492..78091493 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1846del (p.Asp616fs) deletion not provided [RCV001783330] Chr17:80112665 [GRCh38]
Chr17:78086464 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.309C>A (p.Cys103Ter) single nucleotide variant not provided [RCV001783338] Chr17:80104895 [GRCh38]
Chr17:78078694 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1057del (p.Gln353fs) deletion Glycogen storage disease, type II [RCV001789727] Chr17:80108391 [GRCh38]
Chr17:78082190 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.872T>C (p.Leu291Pro) single nucleotide variant Glycogen storage disease, type II [RCV001789730] Chr17:80107813 [GRCh38]
Chr17:78081612 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.560C>G (p.Ala187Gly) single nucleotide variant Glycogen storage disease, type II [RCV001868443]|not provided [RCV001765275] Chr17:80105762 [GRCh38]
Chr17:78079561 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.549C>G (p.Ile183Met) single nucleotide variant Glycogen storage disease, type II [RCV001868441]|not provided [RCV001763615] Chr17:80105751 [GRCh38]
Chr17:78079550 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.503G>T (p.Arg168Leu) single nucleotide variant Glycogen storage disease, type II [RCV001868487]|not provided [RCV001767667] Chr17:80105089 [GRCh38]
Chr17:78078888 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2385del (p.Glu795fs) deletion Glycogen storage disease, type II [RCV001789728] Chr17:80117653 [GRCh38]
Chr17:78091452 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.971dup (p.Ser325fs) duplication Glycogen storage disease, type II [RCV001789729] Chr17:80108303..80108304 [GRCh38]
Chr17:78082102..78082103 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter) single nucleotide variant Glycogen storage disease, type II [RCV003464134]|not provided [RCV001785856] Chr17:80113338 [GRCh38]
Chr17:78087137 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.3_4delinsTT (p.Met1_Gly2delinsIleTer) indel not provided [RCV001785858] Chr17:80104589..80104590 [GRCh38]
Chr17:78078388..78078389 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer) deletion Glycogen storage disease, type II [RCV003464135]|not provided [RCV001785862] Chr17:80105097 [GRCh38]
Chr17:78078896 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.757C>T (p.Pro253Ser) single nucleotide variant Glycogen storage disease, type II [RCV001868476]|not provided [RCV001767416] Chr17:80107621 [GRCh38]
Chr17:78081420 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1510G>A (p.Ala504Thr) single nucleotide variant not provided [RCV001768668] Chr17:80110799 [GRCh38]
Chr17:78084598 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.472A>G (p.Thr158Ala) single nucleotide variant Glycogen storage disease, type II [RCV001868486]|not provided [RCV001767666] Chr17:80105058 [GRCh38]
Chr17:78078857 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.454C>G (p.Leu152Val) single nucleotide variant not provided [RCV001773176] Chr17:80105040 [GRCh38]
Chr17:78078839 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-32-5C>G single nucleotide variant not provided [RCV001761352] Chr17:80104550 [GRCh38]
Chr17:78078349 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1158G>T (p.Gln386His) single nucleotide variant Glycogen storage disease, type II [RCV002540574]|not provided [RCV001765913] Chr17:80108571 [GRCh38]
Chr17:78082370 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1369C>A (p.Pro457Thr) single nucleotide variant not provided [RCV001765704] Chr17:80109987 [GRCh38]
Chr17:78083786 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.995C>A (p.Ser332Ter) single nucleotide variant not provided [RCV001783328] Chr17:80108329 [GRCh38]
Chr17:78082128 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2261dup (p.Val755fs) duplication Glycogen storage disease, type II [RCV001810324]|not provided [RCV001783324] Chr17:80117035..80117036 [GRCh38]
Chr17:78090834..78090835 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2481+109_2481+110insGCTCGGGGTTGAGAAGGGGTGAGGGGA insertion not provided [RCV001783329] Chr17:80117858..80117859 [GRCh38]
Chr17:78091657..78091658 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.827_845del (p.Ile276fs) deletion Glycogen storage disease, type II [RCV001789732] Chr17:80107688..80107706 [GRCh38]
Chr17:78081487..78081505 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.955+5_955+6del deletion not provided [RCV001754144] Chr17:80107901..80107902 [GRCh38]
Chr17:78081700..78081701 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA] insertion Glycogen storage disease, type II [RCV001815635] Chr17:80114186..80114187 [GRCh38]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter) single nucleotide variant Glycogen storage disease, type II [RCV001789731] Chr17:80105030 [GRCh38]
Chr17:78078829 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.301G>T (p.Glu101Ter) single nucleotide variant not provided [RCV001781146] Chr17:80104887 [GRCh38]
Chr17:78078686 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1437+3A>G single nucleotide variant not provided [RCV001752666] Chr17:80110058 [GRCh38]
Chr17:78083857 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1649G>T (p.Gly550Val) single nucleotide variant Glycogen storage disease, type II [RCV001802598] Chr17:80111995 [GRCh38]
Chr17:78085794 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) single nucleotide variant Glycogen storage disease, type II [RCV001806841] Chr17:80112094 [GRCh38]
Chr17:78085893 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.547-41G>C single nucleotide variant Glycogen storage disease, type II [RCV001802379] Chr17:80105708 [GRCh38]
Chr17:78079507 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1754+11C>T single nucleotide variant Glycogen storage disease, type II [RCV001802748] Chr17:80112111 [GRCh38]
Chr17:78085910 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.960G>A (p.Val320=) single nucleotide variant Glycogen storage disease, type II [RCV002008492] Chr17:80108294 [GRCh38]
Chr17:78082093 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1184A>T (p.His395Leu) single nucleotide variant Glycogen storage disease, type II [RCV002008714] Chr17:80108597 [GRCh38]
Chr17:78082396 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) single nucleotide variant Glycogen storage disease, type II [RCV001864623] Chr17:80110787 [GRCh38]
Chr17:78084586 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2294G>T (p.Gly765Val) single nucleotide variant Glycogen storage disease, type II [RCV002020407] Chr17:80117072 [GRCh38]
Chr17:78090871 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp) single nucleotide variant Glycogen storage disease, type II [RCV001915038] Chr17:80105773 [GRCh38]
Chr17:78079572 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1161G>C (p.Val387=) single nucleotide variant Glycogen storage disease, type II [RCV001969941] Chr17:80108574 [GRCh38]
Chr17:78082373 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu) single nucleotide variant Glycogen storage disease, type II [RCV001895092] Chr17:80110807 [GRCh38]
Chr17:78084606 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro) single nucleotide variant Glycogen storage disease, type II [RCV001838849] Chr17:80110742 [GRCh38]
Chr17:78084541 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.309C>G (p.Cys103Trp) single nucleotide variant Glycogen storage disease, type II [RCV001896806] Chr17:80104895 [GRCh38]
Chr17:78078694 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2189+3G>C single nucleotide variant Glycogen storage disease, type II [RCV001913588] Chr17:80113369 [GRCh38]
Chr17:78087168 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1171A>G (p.Met391Val) single nucleotide variant Glycogen storage disease, type II [RCV001889399]|not provided [RCV003146309] Chr17:80108584 [GRCh38]
Chr17:78082383 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1544T>C (p.Met515Thr) single nucleotide variant Glycogen storage disease, type II [RCV002008789] Chr17:80110833 [GRCh38]
Chr17:78084632 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu) single nucleotide variant Cardiovascular phenotype [RCV002425200]|Glycogen storage disease, type II [RCV001915101] Chr17:80113314 [GRCh38]
Chr17:78087113 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.809G>A (p.Ser270Asn) single nucleotide variant Glycogen storage disease, type II [RCV002024922] Chr17:80107673 [GRCh38]
Chr17:78081472 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.49G>T (p.Ala17Ser) single nucleotide variant Glycogen storage disease, type II [RCV002043328] Chr17:80104635 [GRCh38]
Chr17:78078434 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu) single nucleotide variant Glycogen storage disease, type II [RCV001915280] Chr17:80110757 [GRCh38]
Chr17:78084556 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly) single nucleotide variant Glycogen storage disease, type II [RCV001948326] Chr17:80108758 [GRCh38]
Chr17:78082557 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr) single nucleotide variant Glycogen storage disease, type II [RCV002045222] Chr17:80104894 [GRCh38]
Chr17:78078693 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp) single nucleotide variant Glycogen storage disease, type II [RCV001987489] Chr17:80110995 [GRCh38]
Chr17:78084794 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1926C>A (p.Val642=) single nucleotide variant Glycogen storage disease, type II [RCV001909366] Chr17:80112913 [GRCh38]
Chr17:78086712 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1091del (p.Pro364fs) deletion Glycogen storage disease, type II [RCV002007302] Chr17:80108503 [GRCh38]
Chr17:78082302 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro) single nucleotide variant Glycogen storage disease, type II [RCV002025361] Chr17:80112699 [GRCh38]
Chr17:78086498 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu) single nucleotide variant Glycogen storage disease, type II [RCV001864080] Chr17:80110020 [GRCh38]
Chr17:78083819 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp) single nucleotide variant Glycogen storage disease, type II [RCV001896669] Chr17:80110000 [GRCh38]
Chr17:78083799 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.764A>G (p.Gln255Arg) single nucleotide variant Glycogen storage disease, type II [RCV001928089] Chr17:80107628 [GRCh38]
Chr17:78081427 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro) single nucleotide variant Glycogen storage disease, type II [RCV001985774] Chr17:80113308 [GRCh38]
Chr17:78087107 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.396C>G (p.Ser132Arg) single nucleotide variant Glycogen storage disease, type II [RCV002021521] Chr17:80104982 [GRCh38]
Chr17:78078781 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs) microsatellite Glycogen storage disease, type II [RCV001912626] Chr17:80112018..80112019 [GRCh38]
Chr17:78085817..78085818 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC insertion Glycogen storage disease, type II [RCV001969194] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) single nucleotide variant Glycogen storage disease, type II [RCV001926314] Chr17:80112004 [GRCh38]
Chr17:78085803 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu) single nucleotide variant Glycogen storage disease, type II [RCV001947225] Chr17:80112690 [GRCh38]
Chr17:78086489 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1326+6T>C single nucleotide variant Glycogen storage disease, type II [RCV002005592] Chr17:80108834 [GRCh38]
Chr17:78082633 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs) deletion Glycogen storage disease, type II [RCV001926598] Chr17:80117738..80117739 [GRCh38]
Chr17:78091537..78091538 [GRCh37]
Chr17:17q25.3
pathogenic
NC_000017.11:g.80101562C>T single nucleotide variant not provided [RCV001840864] Chr17:80101562 [GRCh38]
Chr17:78075361 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1762G>A (p.Val588Met) single nucleotide variant Glycogen storage disease, type II [RCV001893449] Chr17:80112585 [GRCh38]
Chr17:78086384 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr) single nucleotide variant Glycogen storage disease, type II [RCV001968048]|not provided [RCV003136350] Chr17:80113005 [GRCh38]
Chr17:78086804 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.859-8T>G single nucleotide variant Glycogen storage disease, type II [RCV001892006] Chr17:80107792 [GRCh38]
Chr17:78081591 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu) single nucleotide variant Glycogen storage disease, type II [RCV002003010]|not provided [RCV003136406] Chr17:80110752 [GRCh38]
Chr17:78084551 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu) single nucleotide variant Glycogen storage disease, type II [RCV001893609] Chr17:80117742 [GRCh38]
Chr17:78091541 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.3(chr17:77641336-79465235) copy number gain not specified [RCV002052607] Chr17:77641336..79465235 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78059792)_(78093130_?)dup duplication Glycogen storage disease, type II [RCV001872871] Chr17:78059792..78093130 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr) single nucleotide variant Glycogen storage disease, type II [RCV001982756] Chr17:80116981 [GRCh38]
Chr17:78090780 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.639del (p.Ser214fs) deletion Glycogen storage disease, type II [RCV001928779] Chr17:80105841 [GRCh38]
Chr17:78079640 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.976C>T (p.Pro326Ser) single nucleotide variant Glycogen storage disease, type II [RCV001911834] Chr17:80108310 [GRCh38]
Chr17:78082109 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn) single nucleotide variant Glycogen storage disease, type II [RCV001926412] Chr17:80117058 [GRCh38]
Chr17:78090857 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter) single nucleotide variant Glycogen storage disease, type II [RCV001946756] Chr17:80113286 [GRCh38]
Chr17:78087085 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.858+17C>T single nucleotide variant Glycogen storage disease, type II [RCV001985995] Chr17:80107739 [GRCh38]
Chr17:78081538 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.658dup (p.Val220fs) duplication Glycogen storage disease, type II [RCV001913725] Chr17:80105856..80105857 [GRCh38]
Chr17:78079655..78079656 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.923A>C (p.His308Pro) single nucleotide variant Glycogen storage disease, type II [RCV001984443] Chr17:80107864 [GRCh38]
Chr17:78081663 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr) single nucleotide variant Cardiovascular phenotype [RCV002423109]|Glycogen storage disease, type II [RCV001967690] Chr17:80112992 [GRCh38]
Chr17:78086791 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.954G>A (p.Met318Ile) single nucleotide variant Glycogen storage disease, type II [RCV001895322] Chr17:80107895 [GRCh38]
Chr17:78081694 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2651C>T (p.Thr884Met) single nucleotide variant Glycogen storage disease, type II [RCV001987603] Chr17:80118657 [GRCh38]
Chr17:78092456 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.995C>T (p.Ser332Leu) single nucleotide variant Glycogen storage disease, type II [RCV001928267] Chr17:80108329 [GRCh38]
Chr17:78082128 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile) single nucleotide variant Glycogen storage disease, type II [RCV001891635] Chr17:80110743 [GRCh38]
Chr17:78084542 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2345C>T (p.Ala782Val) single nucleotide variant Glycogen storage disease, type II [RCV001926579] Chr17:80117613 [GRCh38]
Chr17:78091412 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu) single nucleotide variant Glycogen storage disease, type II [RCV001927917] Chr17:80118263 [GRCh38]
Chr17:78092062 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) single nucleotide variant Glycogen storage disease, type II [RCV002043733] Chr17:80108809 [GRCh38]
Chr17:78082608 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.433G>A (p.Glu145Lys) single nucleotide variant Glycogen storage disease, type II [RCV001871228] Chr17:80105019 [GRCh38]
Chr17:78078818 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.593C>A (p.Pro198Gln) single nucleotide variant Glycogen storage disease, type II [RCV002040879] Chr17:80105795 [GRCh38]
Chr17:78079594 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78010462)_(78158057_?)dup duplication Pityriasis rubra pilaris [RCV001984545] Chr17:78010462..78158057 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1637-10_1637-9delinsGA indel Glycogen storage disease, type II [RCV001872270] Chr17:80111973..80111974 [GRCh38]
Chr17:78085772..78085773 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.775G>A (p.Gly259Ser) single nucleotide variant Glycogen storage disease, type II [RCV002022562] Chr17:80107639 [GRCh38]
Chr17:78081438 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu) single nucleotide variant Glycogen storage disease, type II [RCV001964252] Chr17:80113297 [GRCh38]
Chr17:78087096 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.41C>T (p.Ala14Val) single nucleotide variant Glycogen storage disease, type II [RCV001984491] Chr17:80104627 [GRCh38]
Chr17:78078426 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1650del (p.Thr551fs) deletion Glycogen storage disease, type II [RCV001872388] Chr17:80111991 [GRCh38]
Chr17:78085790 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.961G>A (p.Val321Ile) single nucleotide variant Glycogen storage disease, type II [RCV001966343] Chr17:80108295 [GRCh38]
Chr17:78082094 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.528_529del (p.Asn177fs) microsatellite Glycogen storage disease, type II [RCV002039568] Chr17:80105112..80105113 [GRCh38]
Chr17:78078911..78078912 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2522T>C (p.Met841Thr) single nucleotide variant Glycogen storage disease, type II [RCV001962837] Chr17:80118233 [GRCh38]
Chr17:78092032 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro) single nucleotide variant Glycogen storage disease, type II [RCV001887204] Chr17:80112006 [GRCh38]
Chr17:78085805 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2332-16C>T single nucleotide variant Glycogen storage disease, type II [RCV002037981] Chr17:80117584 [GRCh38]
Chr17:78091383 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly) single nucleotide variant Glycogen storage disease, type II [RCV002011686] Chr17:80112621 [GRCh38]
Chr17:78086420 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.927G>T (p.Gly309=) single nucleotide variant Glycogen storage disease, type II [RCV001887238] Chr17:80107868 [GRCh38]
Chr17:78081667 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg) single nucleotide variant Glycogen storage disease, type II [RCV001880433]|not provided [RCV003136211] Chr17:80108531 [GRCh38]
Chr17:78082330 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2782T>C (p.Tyr928His) single nucleotide variant Glycogen storage disease, type II [RCV001998851] Chr17:80118788 [GRCh38]
Chr17:78092587 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys) single nucleotide variant Glycogen storage disease, type II [RCV001943251] Chr17:80111017 [GRCh38]
Chr17:78084816 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1059G>C (p.Gln353His) single nucleotide variant Glycogen storage disease, type II [RCV001944760]|not provided [RCV003146281] Chr17:80108393 [GRCh38]
Chr17:78082192 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1194+3G>T single nucleotide variant Glycogen storage disease, type II [RCV001931325] Chr17:80108610 [GRCh38]
Chr17:78082409 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1076-3C>T single nucleotide variant Glycogen storage disease, type II [RCV001920859]|not provided [RCV003134240] Chr17:80108486 [GRCh38]
Chr17:78082285 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.355G>T (p.Gly119Ter) single nucleotide variant Glycogen storage disease, type II [RCV001941834] Chr17:80104941 [GRCh38]
Chr17:78078740 [GRCh37]
Chr17:17q25.3
pathogenic
NC_000017.10:g.(?_78090757)_(78092614_?)del deletion Glycogen storage disease, type II [RCV001939544] Chr17:78090757..78092614 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1636+17C>T single nucleotide variant Glycogen storage disease, type II [RCV001999817] Chr17:80111042 [GRCh38]
Chr17:78084841 [GRCh37]
Chr17:17q25.3
likely benign
NC_000017.10:g.(?_78081346)_(78087175_?)del deletion Glycogen storage disease, type II [RCV001941957] Chr17:78081346..78087175 [GRCh37]
Chr17:17q25.3
pathogenic
NC_000017.10:g.(?_78032273)_(78163691_?)dup duplication Pityriasis rubra pilaris [RCV001923218] Chr17:78032273..78163691 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.789C>T (p.His263=) single nucleotide variant Glycogen storage disease, type II [RCV001906328] Chr17:80107653 [GRCh38]
Chr17:78081452 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1319T>C (p.Met440Thr) single nucleotide variant Glycogen storage disease, type II [RCV001866447] Chr17:80108821 [GRCh38]
Chr17:78082620 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2527C>G (p.Leu843Val) single nucleotide variant Glycogen storage disease, type II [RCV002049880] Chr17:80118238 [GRCh38]
Chr17:78092037 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1741A>G (p.Ile581Val) single nucleotide variant Glycogen storage disease, type II [RCV002049900] Chr17:80112087 [GRCh38]
Chr17:78085886 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.16C>T (p.Pro6Ser) single nucleotide variant Glycogen storage disease, type II [RCV001887422] Chr17:80104602 [GRCh38]
Chr17:78078401 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp) single nucleotide variant Glycogen storage disease, type II [RCV002031456] Chr17:80117017 [GRCh38]
Chr17:78090816 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2723G>T (p.Gly908Val) single nucleotide variant Glycogen storage disease, type II [RCV001994431] Chr17:80118729 [GRCh38]
Chr17:78092528 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu) single nucleotide variant Glycogen storage disease, type II [RCV002035896] Chr17:80110954 [GRCh38]
Chr17:78084753 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2647-15C>G single nucleotide variant Glycogen storage disease, type II [RCV001999548] Chr17:80118638 [GRCh38]
Chr17:78092437 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met) inversion Glycogen storage disease, type II [RCV001962728] Chr17:80113309..80113310 [GRCh38]
Chr17:78087108..78087109 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala) single nucleotide variant Glycogen storage disease, type II [RCV002029051] Chr17:80110974 [GRCh38]
Chr17:78084773 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs) indel Glycogen storage disease, type II [RCV001993248] Chr17:80108800..80108803 [GRCh38]
Chr17:78082599..78082602 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs) deletion Glycogen storage disease, type II [RCV002037947] Chr17:80109994..80109995 [GRCh38]
Chr17:78083793..78083794 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.54C>G (p.Leu18=) single nucleotide variant Glycogen storage disease, type II [RCV002000191] Chr17:80104640 [GRCh38]
Chr17:78078439 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.583T>G (p.Leu195Val) single nucleotide variant Glycogen storage disease, type II [RCV002011349] Chr17:80105785 [GRCh38]
Chr17:78079584 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.804G>A (p.Met268Ile) single nucleotide variant Glycogen storage disease, type II [RCV002036292] Chr17:80107668 [GRCh38]
Chr17:78081467 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2218G>T (p.Val740Leu) single nucleotide variant Glycogen storage disease, type II [RCV001981354] Chr17:80116996 [GRCh38]
Chr17:78090795 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2095dup (p.Leu699fs) duplication Glycogen storage disease, type II [RCV001972572] Chr17:80113269..80113270 [GRCh38]
Chr17:78087068..78087069 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.298C>A (p.Gln100Lys) single nucleotide variant Glycogen storage disease, type II [RCV001992440] Chr17:80104884 [GRCh38]
Chr17:78078683 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg) single nucleotide variant Glycogen storage disease, type II [RCV001902461] Chr17:80118197 [GRCh38]
Chr17:78091996 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1376A>T (p.Asp459Val) single nucleotide variant Glycogen storage disease, type II [RCV002028157] Chr17:80109994 [GRCh38]
Chr17:78083793 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.693-13C>T single nucleotide variant Glycogen storage disease, type II [RCV001903706] Chr17:80107544 [GRCh38]
Chr17:78081343 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.467C>T (p.Thr156Ile) single nucleotide variant Glycogen storage disease, type II [RCV001936991] Chr17:80105053 [GRCh38]
Chr17:78078852 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr) single nucleotide variant Glycogen storage disease, type II [RCV001870398]|not provided [RCV003132563] Chr17:80118247 [GRCh38]
Chr17:78092046 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) single nucleotide variant Glycogen storage disease, type II [RCV001992590] Chr17:80109979 [GRCh38]
Chr17:78083778 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.69C>A (p.Thr23=) single nucleotide variant Cardiovascular phenotype [RCV003166960]|Glycogen storage disease, type II [RCV001898007] Chr17:80104655 [GRCh38]
Chr17:78078454 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr) single nucleotide variant Glycogen storage disease, type II [RCV002032125] Chr17:80110745 [GRCh38]
Chr17:78084544 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr) single nucleotide variant Glycogen storage disease, type II [RCV001899296] Chr17:80104857 [GRCh38]
Chr17:78078656 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) single nucleotide variant Glycogen storage disease, type II [RCV002027207] Chr17:80113287 [GRCh38]
Chr17:78087086 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1082dup (p.Phe362fs) duplication Glycogen storage disease, type II [RCV001955897] Chr17:80108492..80108493 [GRCh38]
Chr17:78082291..78082292 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1076-1G>C single nucleotide variant Glycogen storage disease, type II [RCV002049620] Chr17:80108488 [GRCh38]
Chr17:78082287 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.858+5A>G single nucleotide variant Glycogen storage disease, type II [RCV001867734] Chr17:80107727 [GRCh38]
Chr17:78081526 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys) single nucleotide variant Glycogen storage disease, type II [RCV002009697] Chr17:80117020 [GRCh38]
Chr17:78090819 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.703A>G (p.Thr235Ala) single nucleotide variant Glycogen storage disease, type II [RCV001935552] Chr17:80107567 [GRCh38]
Chr17:78081366 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-32-3C>T single nucleotide variant Glycogen storage disease, type II [RCV002015927] Chr17:80104552 [GRCh38]
Chr17:78078351 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg) single nucleotide variant Glycogen storage disease, type II [RCV001881986] Chr17:80112597 [GRCh38]
Chr17:78086396 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1075+2T>A single nucleotide variant Glycogen storage disease, type II [RCV002046393] Chr17:80108411 [GRCh38]
Chr17:78082210 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.782C>T (p.Ala261Val) single nucleotide variant Glycogen storage disease, type II [RCV001901385] Chr17:80107646 [GRCh38]
Chr17:78081445 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala) single nucleotide variant Glycogen storage disease, type II [RCV002029184] Chr17:80118229 [GRCh38]
Chr17:78092028 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.304C>T (p.Gln102Ter) single nucleotide variant Glycogen storage disease, type II [RCV001994841] Chr17:80104890 [GRCh38]
Chr17:78078689 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2124C>G (p.His708Gln) single nucleotide variant Glycogen storage disease, type II [RCV001866995] Chr17:80113301 [GRCh38]
Chr17:78087100 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.467C>A (p.Thr156Asn) single nucleotide variant Glycogen storage disease, type II [RCV002030333] Chr17:80105053 [GRCh38]
Chr17:78078852 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.98A>G (p.His33Arg) single nucleotide variant Glycogen storage disease, type II [RCV001897622] Chr17:80104684 [GRCh38]
Chr17:78078483 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr) single nucleotide variant Glycogen storage disease, type II [RCV001875730] Chr17:80108778 [GRCh38]
Chr17:78082577 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) duplication Glycogen storage disease, type II [RCV001918855] Chr17:80112915..80112916 [GRCh38]
Chr17:78086714..78086715 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.974G>A (p.Ser325Asn) single nucleotide variant Glycogen storage disease, type II [RCV001933615] Chr17:80108308 [GRCh38]
Chr17:78082107 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.456_457dup (p.Thr153fs) duplication Glycogen storage disease, type II [RCV001996981] Chr17:80105041..80105042 [GRCh38]
Chr17:78078840..78078841 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.899C>A (p.Ala300Glu) single nucleotide variant Glycogen storage disease, type II [RCV001906340] Chr17:80107840 [GRCh38]
Chr17:78081639 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2166_2167insTGCGAC (p.Thr722_Val723insCysAsp) insertion Glycogen storage disease, type II [RCV001972760] Chr17:80113342..80113343 [GRCh38]
Chr17:78087141..78087142 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) single nucleotide variant Glycogen storage disease, type II [RCV001883863]|not provided [RCV003146300] Chr17:80113270 [GRCh38]
Chr17:78087069 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala) single nucleotide variant Glycogen storage disease, type II [RCV001961567] Chr17:80113308 [GRCh38]
Chr17:78087107 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro) single nucleotide variant Glycogen storage disease, type II [RCV001961575] Chr17:80113287 [GRCh38]
Chr17:78087086 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala) single nucleotide variant Glycogen storage disease, type II [RCV002048342] Chr17:80110803 [GRCh38]
Chr17:78084602 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1975G>C (p.Val659Leu) single nucleotide variant Glycogen storage disease, type II [RCV001936223] Chr17:80112962 [GRCh38]
Chr17:78086761 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr) single nucleotide variant Glycogen storage disease, type II [RCV001905935] Chr17:80108775 [GRCh38]
Chr17:78082574 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.289G>A (p.Ala97Thr) single nucleotide variant Glycogen storage disease, type II [RCV001973348] Chr17:80104875 [GRCh38]
Chr17:78078674 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly) single nucleotide variant Glycogen storage disease, type II [RCV001923535] Chr17:80110791 [GRCh38]
Chr17:78084590 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) single nucleotide variant Glycogen storage disease, type II [RCV001876861] Chr17:80104947 [GRCh38]
Chr17:78078746 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.859-10C>T single nucleotide variant Glycogen storage disease, type II [RCV001993055] Chr17:80107790 [GRCh38]
Chr17:78081589 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) single nucleotide variant Glycogen storage disease, type II [RCV002033332]|not provided [RCV002261395] Chr17:80112890 [GRCh38]
Chr17:78086689 [GRCh37]
Chr17:17q25.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp) single nucleotide variant Glycogen storage disease, type II [RCV002030183] Chr17:80108337 [GRCh38]
Chr17:78082136 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) single nucleotide variant Cardiovascular phenotype [RCV002407047]|Glycogen storage disease, type II [RCV001906717] Chr17:80112646 [GRCh38]
Chr17:78086445 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78082486)_(78087175_?)del deletion Glycogen storage disease, type II [RCV001952517] Chr17:78082486..78087175 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1575dup (p.Ile526fs) duplication Glycogen storage disease, type II [RCV002035298] Chr17:80110963..80110964 [GRCh38]
Chr17:78084762..78084763 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2084T>C (p.Met695Thr) single nucleotide variant Glycogen storage disease, type II [RCV002027760] Chr17:80113261 [GRCh38]
Chr17:78087060 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg) single nucleotide variant Glycogen storage disease, type II [RCV001978246] Chr17:80117048 [GRCh38]
Chr17:78090847 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser) single nucleotide variant Glycogen storage disease, type II [RCV001904391] Chr17:80108510 [GRCh38]
Chr17:78082309 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1173G>A (p.Met391Ile) single nucleotide variant Glycogen storage disease, type II [RCV002019215] Chr17:80108586 [GRCh38]
Chr17:78082385 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.151G>A (p.Glu51Lys) single nucleotide variant Glycogen storage disease, type II [RCV001907344] Chr17:80104737 [GRCh38]
Chr17:78078536 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn) single nucleotide variant Glycogen storage disease, type II [RCV001918845] Chr17:80112669 [GRCh38]
Chr17:78086468 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1846dup (p.Asp616fs) duplication Glycogen storage disease, type II [RCV001926117] Chr17:80112664..80112665 [GRCh38]
Chr17:78086463..78086464 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys) single nucleotide variant Glycogen storage disease, type II [RCV002049131] Chr17:80110961 [GRCh38]
Chr17:78084760 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.716T>C (p.Leu239Pro) single nucleotide variant Glycogen storage disease, type II [RCV001990799] Chr17:80107580 [GRCh38]
Chr17:78081379 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1184A>G (p.His395Arg) single nucleotide variant Glycogen storage disease, type II [RCV001957418] Chr17:80108597 [GRCh38]
Chr17:78082396 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1987del (p.Gln663fs) deletion Glycogen storage disease, type II [RCV001939568] Chr17:80112972 [GRCh38]
Chr17:78086771 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2735C>T (p.Ala912Val) single nucleotide variant Glycogen storage disease, type II [RCV001918948] Chr17:80118741 [GRCh38]
Chr17:78092540 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.859-2A>G single nucleotide variant Glycogen storage disease, type II [RCV002030510] Chr17:80107798 [GRCh38]
Chr17:78081597 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn) indel Glycogen storage disease, type II [RCV001958884] Chr17:80109992..80109993 [GRCh38]
Chr17:78083791..78083792 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1809del (p.Phe603fs) deletion Glycogen storage disease, type II [RCV002035385] Chr17:80112630 [GRCh38]
Chr17:78086429 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.547-1G>C single nucleotide variant Glycogen storage disease, type II [RCV001959745] Chr17:80105748 [GRCh38]
Chr17:78079547 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1326+20G>A single nucleotide variant Glycogen storage disease, type II [RCV001906053] Chr17:80108848 [GRCh38]
Chr17:78082647 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1637-2A>G single nucleotide variant Glycogen storage disease, type II [RCV001960734] Chr17:80111981 [GRCh38]
Chr17:78085780 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup) duplication Glycogen storage disease, type II [RCV002017405] Chr17:80104902..80104903 [GRCh38]
Chr17:78078701..78078702 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.427T>G (p.Ser143Ala) single nucleotide variant Glycogen storage disease, type II [RCV002048680] Chr17:80105013 [GRCh38]
Chr17:78078812 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.347G>A (p.Gly116Glu) single nucleotide variant Glycogen storage disease, type II [RCV002015003]|not provided [RCV003138021] Chr17:80104933 [GRCh38]
Chr17:78078732 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.781G>C (p.Ala261Pro) single nucleotide variant Glycogen storage disease, type II [RCV001866976] Chr17:80107645 [GRCh38]
Chr17:78081444 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.214C>A (p.Pro72Thr) single nucleotide variant Glycogen storage disease, type II [RCV001919326] Chr17:80104800 [GRCh38]
Chr17:78078599 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1557G>A (p.Met519Ile) single nucleotide variant Glycogen storage disease, type II [RCV001933170] Chr17:80110946 [GRCh38]
Chr17:78084745 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.693-5C>G single nucleotide variant Glycogen storage disease, type II [RCV001922684] Chr17:80107552 [GRCh38]
Chr17:78081351 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.144C>T (p.Val48=) single nucleotide variant Cardiovascular phenotype [RCV002388904]|Glycogen storage disease, type II [RCV001978927] Chr17:80104730 [GRCh38]
Chr17:78078529 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup) duplication Glycogen storage disease, type II [RCV001867048] Chr17:80108733..80108734 [GRCh38]
Chr17:78082532..78082533 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2040+1G>C single nucleotide variant Glycogen storage disease, type II [RCV001952864] Chr17:80113028 [GRCh38]
Chr17:78086827 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.348G>T (p.Gly116=) single nucleotide variant Glycogen storage disease, type II [RCV001993538] Chr17:80104934 [GRCh38]
Chr17:78078733 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.688G>C (p.Val230Leu) single nucleotide variant Glycogen storage disease, type II [RCV001978962] Chr17:80105890 [GRCh38]
Chr17:78079689 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.590C>A (p.Thr197Asn) single nucleotide variant Glycogen storage disease, type II [RCV002047111] Chr17:80105792 [GRCh38]
Chr17:78079591 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs) deletion Glycogen storage disease, type II [RCV001955091] Chr17:80117089..80117098 [GRCh38]
Chr17:78090888..78090897 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1610del (p.Glu537fs) deletion Glycogen storage disease, type II [RCV001937792]|not provided [RCV003458105] Chr17:80110999 [GRCh38]
Chr17:78084798 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.883C>T (p.His295Tyr) single nucleotide variant Glycogen storage disease, type II [RCV001877587] Chr17:80107824 [GRCh38]
Chr17:78081623 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1552-3C>T single nucleotide variant Glycogen storage disease, type II [RCV002047371] Chr17:80110938 [GRCh38]
Chr17:78084737 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.693-1G>C single nucleotide variant Glycogen storage disease, type II [RCV002015607] Chr17:80107556 [GRCh38]
Chr17:78081355 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1437+7C>T single nucleotide variant Glycogen storage disease, type II [RCV002027729] Chr17:80110062 [GRCh38]
Chr17:78083861 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.2481+15C>T single nucleotide variant Glycogen storage disease, type II [RCV001991385] Chr17:80117764 [GRCh38]
Chr17:78091563 [GRCh37]
Chr17:17q25.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000152.5(GAA):c.1049T>C (p.Val350Ala) single nucleotide variant Glycogen storage disease, type II [RCV002015848] Chr17:80108383 [GRCh38]
Chr17:78082182 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) single nucleotide variant Glycogen storage disease, type II [RCV001976117] Chr17:80117606 [GRCh38]
Chr17:78091405 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2332-8C>T single nucleotide variant Glycogen storage disease, type II [RCV002105255] Chr17:80117592 [GRCh38]
Chr17:78091391 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2655C>A (p.Ile885=) single nucleotide variant Glycogen storage disease, type II [RCV002168216] Chr17:80118661 [GRCh38]
Chr17:78092460 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2088G>A (p.Arg696=) single nucleotide variant Glycogen storage disease, type II [RCV002073550] Chr17:80113265 [GRCh38]
Chr17:78087064 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1455T>C (p.Thr485=) single nucleotide variant Glycogen storage disease, type II [RCV002084732] Chr17:80110744 [GRCh38]
Chr17:78084543 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2550T>G (p.Gly850=) single nucleotide variant Glycogen storage disease, type II [RCV002208615] Chr17:80118261 [GRCh38]
Chr17:78092060 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.384C>T (p.Phe128=) single nucleotide variant Cardiovascular phenotype [RCV002361491]|Glycogen storage disease, type II [RCV002086129] Chr17:80104970 [GRCh38]
Chr17:78078769 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2796C>T (p.Thr932=) single nucleotide variant Glycogen storage disease, type II [RCV002166362] Chr17:80118802 [GRCh38]
Chr17:78092601 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+7A>G single nucleotide variant Glycogen storage disease, type II [RCV002074503] Chr17:80105139 [GRCh38]
Chr17:78078938 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1637-11G>A single nucleotide variant Glycogen storage disease, type II [RCV002107310] Chr17:80111972 [GRCh38]
Chr17:78085771 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.255C>G (p.Pro85=) single nucleotide variant Cardiovascular phenotype [RCV003303708]|Glycogen storage disease, type II [RCV002165212] Chr17:80104841 [GRCh38]
Chr17:78078640 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2189+9C>T single nucleotide variant Glycogen storage disease, type II [RCV002192540] Chr17:80113375 [GRCh38]
Chr17:78087174 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-6G>C single nucleotide variant Glycogen storage disease, type II [RCV002207846] Chr17:80110721 [GRCh38]
Chr17:78084520 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.692+12G>T single nucleotide variant Glycogen storage disease, type II [RCV002090808] Chr17:80105906 [GRCh38]
Chr17:78079705 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2482-19C>T single nucleotide variant Glycogen storage disease, type II [RCV002147119] Chr17:80118174 [GRCh38]
Chr17:78091973 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1359G>A (p.Gly453=) single nucleotide variant Glycogen storage disease, type II [RCV002168596] Chr17:80109977 [GRCh38]
Chr17:78083776 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2824T>C (p.Leu942=) single nucleotide variant Glycogen storage disease, type II [RCV002148956] Chr17:80119296 [GRCh38]
Chr17:78093095 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1326+20G>T single nucleotide variant Glycogen storage disease, type II [RCV002148958] Chr17:80108848 [GRCh38]
Chr17:78082647 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.693-6C>T single nucleotide variant Glycogen storage disease, type II [RCV002187047] Chr17:80107551 [GRCh38]
Chr17:78081350 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.759C>T (p.Pro253=) single nucleotide variant Glycogen storage disease, type II [RCV002187078] Chr17:80107623 [GRCh38]
Chr17:78081422 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+11del deletion Glycogen storage disease, type II [RCV002124640] Chr17:80108615 [GRCh38]
Chr17:78082414 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.692+12G>A single nucleotide variant Glycogen storage disease, type II [RCV002127937] Chr17:80105906 [GRCh38]
Chr17:78079705 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.774A>C (p.Thr258=) single nucleotide variant Glycogen storage disease, type II [RCV002075207] Chr17:80107638 [GRCh38]
Chr17:78081437 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1637-17G>A single nucleotide variant Glycogen storage disease, type II [RCV002111782] Chr17:80111966 [GRCh38]
Chr17:78085765 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1437+15C>T single nucleotide variant Glycogen storage disease, type II [RCV002091424] Chr17:80110070 [GRCh38]
Chr17:78083869 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.135C>T (p.Ser45=) single nucleotide variant Glycogen storage disease, type II [RCV002104735] Chr17:80104721 [GRCh38]
Chr17:78078520 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.156T>A (p.Thr52=) single nucleotide variant Glycogen storage disease, type II [RCV002205222] Chr17:80104742 [GRCh38]
Chr17:78078541 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1075+14C>T single nucleotide variant Glycogen storage disease, type II [RCV002189702] Chr17:80108423 [GRCh38]
Chr17:78082222 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.956-8C>T single nucleotide variant Glycogen storage disease, type II [RCV002147813] Chr17:80108282 [GRCh38]
Chr17:78082081 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2235G>C (p.Leu745=) single nucleotide variant Glycogen storage disease, type II [RCV002071156] Chr17:80117013 [GRCh38]
Chr17:78090812 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2289G>C (p.Val763=) single nucleotide variant Glycogen storage disease, type II [RCV002111361] Chr17:80117067 [GRCh38]
Chr17:78090866 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-12del deletion Glycogen storage disease, type II [RCV002089621] Chr17:80108477 [GRCh38]
Chr17:78082276 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.547-4C>A single nucleotide variant Glycogen storage disease, type II [RCV002071634] Chr17:80105745 [GRCh38]
Chr17:78079544 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-13T>C single nucleotide variant Glycogen storage disease, type II [RCV002109629] Chr17:80110714 [GRCh38]
Chr17:78084513 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1026C>T (p.Phe342=) single nucleotide variant Glycogen storage disease, type II [RCV002188957] Chr17:80108360 [GRCh38]
Chr17:78082159 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2337A>G (p.Pro779=) single nucleotide variant Cardiovascular phenotype [RCV003308051]|Glycogen storage disease, type II [RCV002210805] Chr17:80117605 [GRCh38]
Chr17:78091404 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1754+8C>T single nucleotide variant Glycogen storage disease, type II [RCV002105150] Chr17:80112108 [GRCh38]
Chr17:78085907 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2799+18G>A single nucleotide variant Glycogen storage disease, type II [RCV002165163] Chr17:80118823 [GRCh38]
Chr17:78092622 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2229G>A (p.Gln743=) single nucleotide variant Glycogen storage disease, type II [RCV002168263] Chr17:80117007 [GRCh38]
Chr17:78090806 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2740dup (p.Gln914fs) duplication Glycogen storage disease, type II [RCV002250001] Chr17:80118742..80118743 [GRCh38]
Chr17:78092541..78092542 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1185C>T (p.His395=) single nucleotide variant Glycogen storage disease, type II [RCV002186627] Chr17:80108598 [GRCh38]
Chr17:78082397 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.735C>T (p.Phe245=) single nucleotide variant Glycogen storage disease, type II [RCV002110340] Chr17:80107599 [GRCh38]
Chr17:78081398 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2799+10C>T single nucleotide variant Glycogen storage disease, type II [RCV002087764] Chr17:80118815 [GRCh38]
Chr17:78092614 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.996G>T (p.Ser332=) single nucleotide variant Glycogen storage disease, type II [RCV002105484] Chr17:80108330 [GRCh38]
Chr17:78082129 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.693-13C>G single nucleotide variant Glycogen storage disease, type II [RCV002071171] Chr17:80107544 [GRCh38]
Chr17:78081343 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.198G>A (p.Arg66=) single nucleotide variant Glycogen storage disease, type II [RCV002167036] Chr17:80104784 [GRCh38]
Chr17:78078583 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1791G>C (p.Val597=) single nucleotide variant Cardiovascular phenotype [RCV002409481]|Glycogen storage disease, type II [RCV002090787] Chr17:80112614 [GRCh38]
Chr17:78086413 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.48C>T (p.Cys16=) single nucleotide variant Glycogen storage disease, type II [RCV002091577] Chr17:80104634 [GRCh38]
Chr17:78078433 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2028C>T (p.Ser676=) single nucleotide variant Glycogen storage disease, type II [RCV002189729] Chr17:80113015 [GRCh38]
Chr17:78086814 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1552-7C>T single nucleotide variant Glycogen storage disease, type II [RCV002106822] Chr17:80110934 [GRCh38]
Chr17:78084733 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.846C>T (p.Asp282=) single nucleotide variant Glycogen storage disease, type II [RCV002126098] Chr17:80107710 [GRCh38]
Chr17:78081509 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1098C>T (p.Tyr366=) single nucleotide variant Glycogen storage disease, type II [RCV002148053] Chr17:80108511 [GRCh38]
Chr17:78082310 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.450C>G (p.Ala150=) single nucleotide variant Cardiovascular phenotype [RCV002337250]|Glycogen storage disease, type II [RCV002075087] Chr17:80105036 [GRCh38]
Chr17:78078835 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1395G>A (p.Gly465=) single nucleotide variant Glycogen storage disease, type II [RCV002108697] Chr17:80110013 [GRCh38]
Chr17:78083812 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2418G>T (p.Thr806=) single nucleotide variant Glycogen storage disease, type II [RCV002146562] Chr17:80117686 [GRCh38]
Chr17:78091485 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2439C>T (p.Thr813=) single nucleotide variant Glycogen storage disease, type II [RCV002071570] Chr17:80117707 [GRCh38]
Chr17:78091506 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1509G>A (p.Val503=) single nucleotide variant Glycogen storage disease, type II [RCV002092371] Chr17:80110798 [GRCh38]
Chr17:78084597 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.859-19C>T single nucleotide variant Glycogen storage disease, type II [RCV002167909] Chr17:80107781 [GRCh38]
Chr17:78081580 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1107G>T (p.Leu369=) single nucleotide variant Cardiovascular phenotype [RCV002427563]|Glycogen storage disease, type II [RCV002185057] Chr17:80108520 [GRCh38]
Chr17:78082319 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1311C>T (p.Arg437=) single nucleotide variant Glycogen storage disease, type II [RCV002072537] Chr17:80108813 [GRCh38]
Chr17:78082612 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.108G>T (p.Leu36=) single nucleotide variant Glycogen storage disease, type II [RCV002131254] Chr17:80104694 [GRCh38]
Chr17:78078493 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+12A>G single nucleotide variant Glycogen storage disease, type II [RCV002111016] Chr17:80105144 [GRCh38]
Chr17:78078943 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.651C>A (p.Pro217=) single nucleotide variant Glycogen storage disease, type II [RCV002152886] Chr17:80105853 [GRCh38]
Chr17:78079652 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+9G>A single nucleotide variant Glycogen storage disease, type II [RCV002165605] Chr17:80105141 [GRCh38]
Chr17:78078940 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+10C>T single nucleotide variant Glycogen storage disease, type II [RCV002146063] Chr17:80111035 [GRCh38]
Chr17:78084834 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+10C>G single nucleotide variant Glycogen storage disease, type II [RCV002150003] Chr17:80111035 [GRCh38]
Chr17:78084834 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.75A>C (p.Ala25=) single nucleotide variant Glycogen storage disease, type II [RCV002076207] Chr17:80104661 [GRCh38]
Chr17:78078460 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.456G>T (p.Leu152=) single nucleotide variant Glycogen storage disease, type II [RCV002113014] Chr17:80105042 [GRCh38]
Chr17:78078841 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1764G>A (p.Val588=) single nucleotide variant Glycogen storage disease, type II [RCV002076644] Chr17:80112587 [GRCh38]
Chr17:78086386 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1188C>T (p.Phe396=) single nucleotide variant Glycogen storage disease, type II [RCV002080959] Chr17:80108601 [GRCh38]
Chr17:78082400 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+18G>A single nucleotide variant Glycogen storage disease, type II [RCV002095047] Chr17:80107740 [GRCh38]
Chr17:78081539 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.468C>G (p.Thr156=) single nucleotide variant Glycogen storage disease, type II [RCV002214972] Chr17:80105054 [GRCh38]
Chr17:78078853 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-11T>A single nucleotide variant Glycogen storage disease, type II [RCV002196816] Chr17:80110716 [GRCh38]
Chr17:78084515 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2593C>T (p.Leu865=) single nucleotide variant Glycogen storage disease, type II [RCV002127839] Chr17:80118304 [GRCh38]
Chr17:78092103 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+14C>T single nucleotide variant Glycogen storage disease, type II [RCV002091661] Chr17:80117123 [GRCh38]
Chr17:78090922 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+5_858+11dup duplication Glycogen storage disease, type II [RCV002135180] Chr17:80107726..80107727 [GRCh38]
Chr17:78081525..78081526 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+12_546+17del deletion Glycogen storage disease, type II [RCV002128017] Chr17:80105140..80105145 [GRCh38]
Chr17:78078939..78078944 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2481+14G>A single nucleotide variant Glycogen storage disease, type II [RCV002091921] Chr17:80117763 [GRCh38]
Chr17:78091562 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.956-4C>T single nucleotide variant Glycogen storage disease, type II [RCV002194338] Chr17:80108286 [GRCh38]
Chr17:78082085 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1164G>A (p.Val388=) single nucleotide variant Cardiovascular phenotype [RCV002325670]|Glycogen storage disease, type II [RCV002115051] Chr17:80108577 [GRCh38]
Chr17:78082376 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1857C>T (p.Ser619=) single nucleotide variant Cardiovascular phenotype [RCV002409495]|Glycogen storage disease, type II [RCV002095242] Chr17:80112680 [GRCh38]
Chr17:78086479 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+11G>C single nucleotide variant Glycogen storage disease, type II [RCV002173353] Chr17:80117120 [GRCh38]
Chr17:78090919 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.873C>T (p.Leu291=) single nucleotide variant Glycogen storage disease, type II [RCV002095083] Chr17:80107814 [GRCh38]
Chr17:78081613 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.774A>G (p.Thr258=) single nucleotide variant Glycogen storage disease, type II [RCV002075472] Chr17:80107638 [GRCh38]
Chr17:78081437 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1889-12_1889-11del microsatellite Glycogen storage disease, type II [RCV002113666] Chr17:80112862..80112863 [GRCh38]
Chr17:78086661..78086662 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.955+14C>T single nucleotide variant Glycogen storage disease, type II [RCV002080454] Chr17:80107910 [GRCh38]
Chr17:78081709 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.930G>A (p.Val310=) single nucleotide variant Glycogen storage disease, type II [RCV002117081] Chr17:80107871 [GRCh38]
Chr17:78081670 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2223C>T (p.Asp741=) single nucleotide variant Glycogen storage disease, type II [RCV002075657] Chr17:80117001 [GRCh38]
Chr17:78090800 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1326+15A>G single nucleotide variant Glycogen storage disease, type II [RCV002116860] Chr17:80108843 [GRCh38]
Chr17:78082642 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+16G>C single nucleotide variant Glycogen storage disease, type II [RCV002174874] Chr17:80105148 [GRCh38]
Chr17:78078947 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+16_1194+18del deletion Glycogen storage disease, type II [RCV002110296] Chr17:80108623..80108625 [GRCh38]
Chr17:78082422..78082424 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1551+10dup duplication Glycogen storage disease, type II [RCV002079435] Chr17:80110848..80110849 [GRCh38]
Chr17:78084647..78084648 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-15G>A single nucleotide variant Glycogen storage disease, type II [RCV002174110] Chr17:80108474 [GRCh38]
Chr17:78082273 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2052G>T (p.Pro684=) single nucleotide variant Glycogen storage disease, type II [RCV002153628] Chr17:80113229 [GRCh38]
Chr17:78087028 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+16C>T single nucleotide variant Glycogen storage disease, type II [RCV002175139] Chr17:80117125 [GRCh38]
Chr17:78090924 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.267C>T (p.Arg89=) single nucleotide variant Glycogen storage disease, type II [RCV002078320] Chr17:80104853 [GRCh38]
Chr17:78078652 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2248C>T (p.Leu750=) single nucleotide variant Glycogen storage disease, type II [RCV002197169] Chr17:80117026 [GRCh38]
Chr17:78090825 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2463G>T (p.Gly821=) single nucleotide variant Cardiovascular phenotype [RCV002443126]|Glycogen storage disease, type II [RCV002195390] Chr17:80117731 [GRCh38]
Chr17:78091530 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+11G>A single nucleotide variant Glycogen storage disease, type II [RCV002173567] Chr17:80107733 [GRCh38]
Chr17:78081532 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.180C>G (p.Ala60=) single nucleotide variant Glycogen storage disease, type II [RCV002195396] Chr17:80104766 [GRCh38]
Chr17:78078565 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.126G>C (p.Leu42=) single nucleotide variant Glycogen storage disease, type II [RCV002188251] Chr17:80104712 [GRCh38]
Chr17:78078511 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.594G>T (p.Pro198=) single nucleotide variant Glycogen storage disease, type II [RCV002129033] Chr17:80105796 [GRCh38]
Chr17:78079595 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2472C>T (p.Ile824=) single nucleotide variant Glycogen storage disease, type II [RCV002130908] Chr17:80117740 [GRCh38]
Chr17:78091539 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2625G>A (p.Gln875=) single nucleotide variant Glycogen storage disease, type II [RCV002151052] Chr17:80118336 [GRCh38]
Chr17:78092135 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1008C>A (p.Ile336=) single nucleotide variant Glycogen storage disease, type II [RCV002115438] Chr17:80108342 [GRCh38]
Chr17:78082141 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2190-20T>C single nucleotide variant Glycogen storage disease, type II [RCV002104588] Chr17:80116948 [GRCh38]
Chr17:78090747 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.147G>A (p.Leu49=) single nucleotide variant Glycogen storage disease, type II [RCV002194208] Chr17:80104733 [GRCh38]
Chr17:78078532 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-14C>T single nucleotide variant Glycogen storage disease, type II [RCV002105592] Chr17:80113204 [GRCh38]
Chr17:78087003 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1200C>G (p.Val400=) single nucleotide variant Cardiovascular phenotype [RCV002346532]|Glycogen storage disease, type II [RCV002169244] Chr17:80108702 [GRCh38]
Chr17:78082501 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1878C>T (p.Ser626=) single nucleotide variant Glycogen storage disease, type II [RCV002113435] Chr17:80112701 [GRCh38]
Chr17:78086500 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1119G>A (p.Leu373=) single nucleotide variant Glycogen storage disease, type II [RCV002214039] Chr17:80108532 [GRCh38]
Chr17:78082331 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1637-10C>T single nucleotide variant Glycogen storage disease, type II [RCV002096205] Chr17:80111973 [GRCh38]
Chr17:78085772 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1754+16C>T single nucleotide variant Glycogen storage disease, type II [RCV002091906] Chr17:80112116 [GRCh38]
Chr17:78085915 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1888+18G>A single nucleotide variant Glycogen storage disease, type II [RCV002149638] Chr17:80112729 [GRCh38]
Chr17:78086528 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2646+11G>A single nucleotide variant Glycogen storage disease, type II [RCV002113697] Chr17:80118368 [GRCh38]
Chr17:78092167 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.900G>T (p.Ala300=) single nucleotide variant Glycogen storage disease, type II [RCV002172507] Chr17:80107841 [GRCh38]
Chr17:78081640 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2211C>G (p.Thr737=) single nucleotide variant Glycogen storage disease, type II [RCV002116695] Chr17:80116989 [GRCh38]
Chr17:78090788 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.99T>C (p.His33=) single nucleotide variant Glycogen storage disease, type II [RCV002173880] Chr17:80104685 [GRCh38]
Chr17:78078484 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2029C>T (p.Leu677=) single nucleotide variant Glycogen storage disease, type II [RCV002192424] Chr17:80113016 [GRCh38]
Chr17:78086815 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.564C>T (p.Asn188=) single nucleotide variant Glycogen storage disease, type II [RCV002169960] Chr17:80105766 [GRCh38]
Chr17:78079565 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.657G>A (p.Gly219=) single nucleotide variant Glycogen storage disease, type II [RCV002114303] Chr17:80105859 [GRCh38]
Chr17:78079658 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2647-10C>T single nucleotide variant Glycogen storage disease, type II [RCV002113842] Chr17:80118643 [GRCh38]
Chr17:78092442 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1962A>G (p.Ser654=) single nucleotide variant Glycogen storage disease, type II [RCV002193995] Chr17:80112949 [GRCh38]
Chr17:78086748 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.594G>C (p.Pro198=) single nucleotide variant Glycogen storage disease, type II [RCV002209042] Chr17:80105796 [GRCh38]
Chr17:78079595 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2619C>T (p.Tyr873=) single nucleotide variant Glycogen storage disease, type II [RCV002194616] Chr17:80118330 [GRCh38]
Chr17:78092129 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.956-11T>C single nucleotide variant Glycogen storage disease, type II [RCV002157352] Chr17:80108279 [GRCh38]
Chr17:78082078 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.633G>A (p.Val211=) single nucleotide variant Glycogen storage disease, type II [RCV002156184] Chr17:80105835 [GRCh38]
Chr17:78079634 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1230C>A (p.Ser410=) single nucleotide variant Glycogen storage disease, type II [RCV002179327] Chr17:80108732 [GRCh38]
Chr17:78082531 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1437+8G>C single nucleotide variant Glycogen storage disease, type II [RCV002177701] Chr17:80110063 [GRCh38]
Chr17:78083862 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+17C>T single nucleotide variant Glycogen storage disease, type II [RCV002198722] Chr17:80105149 [GRCh38]
Chr17:78078948 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.618C>A (p.Ser206=) single nucleotide variant Glycogen storage disease, type II [RCV002099044] Chr17:80105820 [GRCh38]
Chr17:78079619 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2800-6T>C single nucleotide variant Glycogen storage disease, type II [RCV002199090] Chr17:80119266 [GRCh38]
Chr17:78093065 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.79C>T (p.Leu27=) single nucleotide variant Glycogen storage disease, type II [RCV002103133] Chr17:80104665 [GRCh38]
Chr17:78078464 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-9G>T single nucleotide variant Glycogen storage disease, type II [RCV002178457] Chr17:80110718 [GRCh38]
Chr17:78084517 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-14G>A single nucleotide variant Glycogen storage disease, type II [RCV002218451] Chr17:80108475 [GRCh38]
Chr17:78082274 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.956-17A>T single nucleotide variant Glycogen storage disease, type II [RCV002154200] Chr17:80108273 [GRCh38]
Chr17:78082072 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2112A>G (p.Ala704=) single nucleotide variant Glycogen storage disease, type II [RCV002183058] Chr17:80113289 [GRCh38]
Chr17:78087088 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2766T>C (p.Pro922=) single nucleotide variant Glycogen storage disease, type II [RCV002163386] Chr17:80118772 [GRCh38]
Chr17:78092571 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-16C>T single nucleotide variant Glycogen storage disease, type II [RCV002218858] Chr17:80108473 [GRCh38]
Chr17:78082272 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1017C>T (p.Val339=) single nucleotide variant Glycogen storage disease, type II [RCV002156366] Chr17:80108351 [GRCh38]
Chr17:78082150 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1062C>T (p.Tyr354=) single nucleotide variant Glycogen storage disease, type II [RCV002177669] Chr17:80108396 [GRCh38]
Chr17:78082195 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-19_1327-18inv inversion Glycogen storage disease, type II [RCV002136017] Chr17:80109926..80109927 [GRCh38]
Chr17:78083725..78083726 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-20A>G single nucleotide variant Glycogen storage disease, type II [RCV002102440] Chr17:80109925 [GRCh38]
Chr17:78083724 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.955+15G>A single nucleotide variant Glycogen storage disease, type II [RCV002162068] Chr17:80107911 [GRCh38]
Chr17:78081710 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1698C>T (p.Ser566=) single nucleotide variant Glycogen storage disease, type II [RCV002177835] Chr17:80112044 [GRCh38]
Chr17:78085843 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2826G>A (p.Leu942=) single nucleotide variant Glycogen storage disease, type II [RCV002100730] Chr17:80119298 [GRCh38]
Chr17:78093097 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.547-9C>T single nucleotide variant Glycogen storage disease, type II [RCV002181890] Chr17:80105740 [GRCh38]
Chr17:78079539 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1797C>A (p.Ser599=) single nucleotide variant Glycogen storage disease, type II [RCV002198739] Chr17:80112620 [GRCh38]
Chr17:78086419 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1296C>T (p.His432=) single nucleotide variant Glycogen storage disease, type II [RCV002156796] Chr17:80108798 [GRCh38]
Chr17:78082597 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2385G>A (p.Glu795=) single nucleotide variant Glycogen storage disease, type II [RCV002183773] Chr17:80117653 [GRCh38]
Chr17:78091452 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2706G>A (p.Gln902=) single nucleotide variant Glycogen storage disease, type II [RCV002120607] Chr17:80118712 [GRCh38]
Chr17:78092511 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.459C>G (p.Thr153=) single nucleotide variant Glycogen storage disease, type II [RCV002142312] Chr17:80105045 [GRCh38]
Chr17:78078844 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2259C>T (p.Thr753=) single nucleotide variant Glycogen storage disease, type II [RCV002162668] Chr17:80117037 [GRCh38]
Chr17:78090836 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.579G>A (p.Val193=) single nucleotide variant Glycogen storage disease, type II [RCV002164381] Chr17:80105781 [GRCh38]
Chr17:78079580 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2148C>G (p.Ala716=) single nucleotide variant Glycogen storage disease, type II [RCV002217734] Chr17:80113325 [GRCh38]
Chr17:78087124 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1728C>G (p.Gly576=) single nucleotide variant Glycogen storage disease, type II [RCV002161087] Chr17:80112074 [GRCh38]
Chr17:78085873 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2647-11G>C single nucleotide variant Glycogen storage disease, type II [RCV002162795] Chr17:80118642 [GRCh38]
Chr17:78092441 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2646+7C>G single nucleotide variant Glycogen storage disease, type II [RCV002142492] Chr17:80118364 [GRCh38]
Chr17:78092163 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+10G>A single nucleotide variant Glycogen storage disease, type II [RCV002164612] Chr17:80108617 [GRCh38]
Chr17:78082416 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=) indel Glycogen storage disease, type II [RCV002220205] Chr17:80105087..80105088 [GRCh38]
Chr17:78078886..78078887 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1755-11C>T single nucleotide variant Glycogen storage disease, type II [RCV002122604] Chr17:80112567 [GRCh38]
Chr17:78086366 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-9G>A single nucleotide variant Glycogen storage disease, type II [RCV002162685] Chr17:80113209 [GRCh38]
Chr17:78087008 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1020C>T (p.Tyr340=) single nucleotide variant Glycogen storage disease, type II [RCV002199619] Chr17:80108354 [GRCh38]
Chr17:78082153 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.207G>A (p.Gln69=) single nucleotide variant Glycogen storage disease, type II [RCV002137103] Chr17:80104793 [GRCh38]
Chr17:78078592 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.955+17C>T single nucleotide variant Glycogen storage disease, type II [RCV002201458] Chr17:80107913 [GRCh38]
Chr17:78081712 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2730C>A (p.Ala910=) single nucleotide variant Glycogen storage disease, type II [RCV002139049] Chr17:80118736 [GRCh38]
Chr17:78092535 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1668C>T (p.Thr556=) single nucleotide variant Glycogen storage disease, type II [RCV002218557] Chr17:80112014 [GRCh38]
Chr17:78085813 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.642C>A (p.Ser214=) single nucleotide variant Glycogen storage disease, type II [RCV002201646] Chr17:80105844 [GRCh38]
Chr17:78079643 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.234G>T (p.Val78=) single nucleotide variant Cardiovascular phenotype [RCV002443248]|Glycogen storage disease, type II [RCV002163129] Chr17:80104820 [GRCh38]
Chr17:78078619 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1572C>T (p.Asn524=) single nucleotide variant Glycogen storage disease, type II [RCV002137681] Chr17:80110961 [GRCh38]
Chr17:78084760 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1009C>T (p.Leu337=) single nucleotide variant Glycogen storage disease, type II [RCV002180718] Chr17:80108343 [GRCh38]
Chr17:78082142 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.692+16T>C single nucleotide variant Glycogen storage disease, type II [RCV002201765] Chr17:80105910 [GRCh38]
Chr17:78079709 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-16G>T single nucleotide variant Glycogen storage disease, type II [RCV002198191] Chr17:80109929 [GRCh38]
Chr17:78083728 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1636+14C>T single nucleotide variant Glycogen storage disease, type II [RCV002202147] Chr17:80111039 [GRCh38]
Chr17:78084838 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1926C>G (p.Val642=) single nucleotide variant Glycogen storage disease, type II [RCV002143043] Chr17:80112913 [GRCh38]
Chr17:78086712 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2844C>T (p.Leu948=) single nucleotide variant Glycogen storage disease, type II [RCV002183222] Chr17:80119316 [GRCh38]
Chr17:78093115 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1110C>G (p.Gly370=) single nucleotide variant Glycogen storage disease, type II [RCV002219458] Chr17:80108523 [GRCh38]
Chr17:78082322 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.867G>T (p.Ala289=) single nucleotide variant Glycogen storage disease, type II [RCV002198779] Chr17:80107808 [GRCh38]
Chr17:78081607 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.955+10C>A single nucleotide variant Glycogen storage disease, type II [RCV002178433] Chr17:80107906 [GRCh38]
Chr17:78081705 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1758G>T (p.Ala586=) single nucleotide variant Glycogen storage disease, type II [RCV002176494] Chr17:80112581 [GRCh38]
Chr17:78086380 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2482-9C>T single nucleotide variant Glycogen storage disease, type II [RCV002099219] Chr17:80118184 [GRCh38]
Chr17:78091983 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2427C>T (p.Ala809=) single nucleotide variant Glycogen storage disease, type II [RCV002162380] Chr17:80117695 [GRCh38]
Chr17:78091494 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1889-14C>T single nucleotide variant Glycogen storage disease, type II [RCV002099420] Chr17:80112862 [GRCh38]
Chr17:78086661 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1227C>T (p.Asp409=) single nucleotide variant Glycogen storage disease, type II [RCV002103108] Chr17:80108729 [GRCh38]
Chr17:78082528 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1449G>A (p.Gly483=) single nucleotide variant Glycogen storage disease, type II [RCV002180352] Chr17:80110738 [GRCh38]
Chr17:78084537 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2091G>A (p.Lys697=) single nucleotide variant Glycogen storage disease, type II [RCV002161561] Chr17:80113268 [GRCh38]
Chr17:78087067 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1692T>C (p.Phe564=) single nucleotide variant Glycogen storage disease, type II [RCV002201839] Chr17:80112038 [GRCh38]
Chr17:78085837 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1134C>T (p.Tyr378=) single nucleotide variant Glycogen storage disease, type II [RCV002221013] Chr17:80108547 [GRCh38]
Chr17:78082346 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.936G>A (p.Leu312=) single nucleotide variant Glycogen storage disease, type II [RCV002175806] Chr17:80107877 [GRCh38]
Chr17:78081676 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1284G>T (p.Val428=) single nucleotide variant Glycogen storage disease, type II [RCV002183619] Chr17:80108786 [GRCh38]
Chr17:78082585 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2604G>T (p.Leu868=) single nucleotide variant Glycogen storage disease, type II [RCV002198334] Chr17:80118315 [GRCh38]
Chr17:78092114 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.421C>T (p.Leu141=) single nucleotide variant Glycogen storage disease, type II [RCV002141240] Chr17:80105007 [GRCh38]
Chr17:78078806 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2040+8G>T single nucleotide variant Glycogen storage disease, type II [RCV002183917] Chr17:80113035 [GRCh38]
Chr17:78086834 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.693-19G>C single nucleotide variant Glycogen storage disease, type II [RCV002183927] Chr17:80107538 [GRCh38]
Chr17:78081337 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2817C>T (p.Val939=) single nucleotide variant Glycogen storage disease, type II [RCV002204225] Chr17:80119289 [GRCh38]
Chr17:78093088 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.21C>T (p.Pro7=) single nucleotide variant Glycogen storage disease, type II [RCV002118457] Chr17:80104607 [GRCh38]
Chr17:78078406 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.609G>A (p.Arg203=) single nucleotide variant Glycogen storage disease, type II [RCV002198764] Chr17:80105811 [GRCh38]
Chr17:78079610 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.138C>G (p.Ser46=) single nucleotide variant Glycogen storage disease, type II [RCV002138198]|not provided [RCV003134392] Chr17:80104724 [GRCh38]
Chr17:78078523 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_000152.5(GAA):c.1552-12C>A single nucleotide variant Glycogen storage disease, type II [RCV002199009] Chr17:80110929 [GRCh38]
Chr17:78084728 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-13G>A single nucleotide variant Glycogen storage disease, type II [RCV002123834] Chr17:80113205 [GRCh38]
Chr17:78087004 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.501G>A (p.Leu167=) single nucleotide variant Glycogen storage disease, type II [RCV002144101] Chr17:80105087 [GRCh38]
Chr17:78078886 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.639C>T (p.Phe213=) single nucleotide variant Glycogen storage disease, type II [RCV002176705] Chr17:80105841 [GRCh38]
Chr17:78079640 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2481+12A>G single nucleotide variant Glycogen storage disease, type II [RCV002119276] Chr17:80117761 [GRCh38]
Chr17:78091560 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2703G>A (p.Leu901=) single nucleotide variant Glycogen storage disease, type II [RCV002182622] Chr17:80118709 [GRCh38]
Chr17:78092508 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1392G>A (p.Arg464=) single nucleotide variant Glycogen storage disease, type II [RCV002122614] Chr17:80110010 [GRCh38]
Chr17:78083809 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1075+5G>A single nucleotide variant Glycogen storage disease, type II [RCV003110656] Chr17:80108414 [GRCh38]
Chr17:78082213 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1089G>A (p.Met363Ile) single nucleotide variant Glycogen storage disease, type II [RCV003110174] Chr17:80108502 [GRCh38]
Chr17:78082301 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter) single nucleotide variant Glycogen storage disease, type II [RCV003112390] Chr17:80112676 [GRCh38]
Chr17:78086475 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter) single nucleotide variant Glycogen storage disease, type II [RCV003112391] Chr17:80118330 [GRCh38]
Chr17:78092129 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.955+43G>C single nucleotide variant Glycogen storage disease, type II [RCV003116839] Chr17:80107939 [GRCh38]
Chr17:78081738 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+20G>A single nucleotide variant Glycogen storage disease, type II [RCV003112092] Chr17:80105152 [GRCh38]
Chr17:78078951 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.756G>A (p.Leu252=) single nucleotide variant Glycogen storage disease, type II [RCV003116213] Chr17:80107620 [GRCh38]
Chr17:78081419 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2481+4C>G single nucleotide variant Glycogen storage disease, type II [RCV003116234] Chr17:80117753 [GRCh38]
Chr17:78091552 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.616T>C (p.Ser206Pro) single nucleotide variant Glycogen storage disease, type II [RCV003118517] Chr17:80105818 [GRCh38]
Chr17:78079617 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile) single nucleotide variant Glycogen storage disease, type II [RCV003121476] Chr17:80118684 [GRCh38]
Chr17:78092483 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_76851749)_(78367298_?)dup duplication Pityriasis rubra pilaris [RCV003122634] Chr17:76851749..78367298 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(?_78084516)_(78084834_?)del deletion Glycogen storage disease, type II [RCV003119427] Chr17:78084516..78084834 [GRCh37]
Chr17:17q25.3
pathogenic
NC_000017.10:g.(?_78085283)_(78092476_?)del deletion Glycogen storage disease, type II [RCV003119428] Chr17:78085283..78092476 [GRCh37]
Chr17:17q25.3
pathogenic
NC_000017.10:g.(?_78090747)_(78110154_?)dup duplication Glycogen storage disease, type II [RCV003119429] Chr17:78090747..78110154 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) single nucleotide variant Glycogen storage disease, type II [RCV003237380]|not provided [RCV003144096] Chr17:80112684 [GRCh38]
Chr17:78086483 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|uncertain significance
NM_000152.5(GAA):c.713C>T (p.Pro238Leu) single nucleotide variant not provided [RCV003130952] Chr17:80107577 [GRCh38]
Chr17:78081376 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2189+614T>C single nucleotide variant not provided [RCV003130955] Chr17:80113980 [GRCh38]
Chr17:78087779 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.556C>T (p.Pro186Ser) single nucleotide variant not provided [RCV003144095] Chr17:80105758 [GRCh38]
Chr17:78079557 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.522G>T (p.Glu174Asp) single nucleotide variant not provided [RCV003144101] Chr17:80105108 [GRCh38]
Chr17:78078907 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1754+2T>G single nucleotide variant not provided [RCV002250422] Chr17:80112102 [GRCh38]
Chr17:78085901 [GRCh37]
Chr17:17q25.3
not provided
NM_000152.5(GAA):c.1706A>G (p.Tyr569Cys) single nucleotide variant not provided [RCV003144092] Chr17:80112052 [GRCh38]
Chr17:78085851 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg) single nucleotide variant not provided [RCV003144097] Chr17:80110730 [GRCh38]
Chr17:78084529 [GRCh37]
Chr17:17q25.3
pathogenic|uncertain significance
NM_000152.5(GAA):c.790C>T (p.Leu264Phe) single nucleotide variant not provided [RCV003144099] Chr17:80107654 [GRCh38]
Chr17:78081453 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.935del (p.Leu312fs) deletion Glycogen storage disease, type II [RCV003236603] Chr17:80107876 [GRCh38]
Chr17:78081675 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.712C>T (p.Pro238Ser) single nucleotide variant Glycogen storage disease, type II [RCV003096198]|not provided [RCV002275422] Chr17:80107576 [GRCh38]
Chr17:78081375 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.795T>A (p.Ser265Arg) single nucleotide variant Glycogen storage disease, type II [RCV003095878]|not provided [RCV002261579] Chr17:80107659 [GRCh38]
Chr17:78081458 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser) single nucleotide variant Glycogen storage disease, type II [RCV002260940] Chr17:80112016 [GRCh38]
Chr17:78085815 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter) single nucleotide variant Glycogen storage disease, type II [RCV002260945] Chr17:80117679 [GRCh38]
Chr17:78091478 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2738C>G (p.Pro913Arg) single nucleotide variant not provided [RCV002275756] Chr17:80118744 [GRCh38]
Chr17:78092543 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe) single nucleotide variant Glycogen storage disease, type II [RCV002293394] Chr17:80117720 [GRCh38]
Chr17:78091519 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_000152.5(GAA):c.1439T>A (p.Val480Glu) single nucleotide variant Glycogen storage disease, type II [RCV002297127] Chr17:80110728 [GRCh38]
Chr17:78084527 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1011G>A (p.Leu337=) single nucleotide variant Cardiovascular phenotype [RCV002452029] Chr17:80108345 [GRCh38]
Chr17:78082144 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.246C>A (p.Cys82Ter) single nucleotide variant Glycogen storage disease, type II [RCV002260939] Chr17:80104832 [GRCh38]
Chr17:78078631 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.796C>A (p.Pro266Thr) single nucleotide variant Glycogen storage disease, type II [RCV002260942] Chr17:80107660 [GRCh38]
Chr17:78081459 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) single nucleotide variant Glycogen storage disease, type II [RCV002260943] Chr17:80117724 [GRCh38]
Chr17:78091523 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys) single nucleotide variant Glycogen storage disease, type II [RCV002296937] Chr17:80113285 [GRCh38]
Chr17:78087084 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.547-176TCC[2] microsatellite not provided [RCV002286270] Chr17:80105573..80105575 [GRCh38]
Chr17:78079372..78079374 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1705dup (p.Tyr569fs) duplication Glycogen storage disease, type II [RCV002260938] Chr17:80112050..80112051 [GRCh38]
Chr17:78085849..78085850 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln) single nucleotide variant Glycogen storage disease, type II [RCV002289401] Chr17:80108519 [GRCh38]
Chr17:78082318 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe) single nucleotide variant Glycogen storage disease, type II [RCV003096112]|not specified [RCV002271755] Chr17:80112025 [GRCh38]
Chr17:78085824 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2012T>A (p.Met671Lys) single nucleotide variant not specified [RCV003236377] Chr17:80112999 [GRCh38]
Chr17:78086798 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.693G>T (p.Leu231=) single nucleotide variant not specified [RCV003236378] Chr17:80107557 [GRCh38]
Chr17:78081356 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1239C>G (p.Asp413Glu) single nucleotide variant not specified [RCV003236376] Chr17:80108741 [GRCh38]
Chr17:78082540 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs) indel Glycogen storage disease, type II [RCV002260944] Chr17:80110991..80110994 [GRCh38]
Chr17:78084790..78084793 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) single nucleotide variant Glycogen storage disease, type II [RCV002260941] Chr17:80110003 [GRCh38]
Chr17:78083802 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1848dup (p.Val617fs) duplication Glycogen storage disease, type II [RCV002291120] Chr17:80112670..80112671 [GRCh38]
Chr17:78086469..78086470 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2481+1G>T single nucleotide variant Glycogen storage disease, type II [RCV003236602] Chr17:80117750 [GRCh38]
Chr17:78091549 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1755-4C>T single nucleotide variant Muscular dystrophy [RCV002281213] Chr17:80112574 [GRCh38]
Chr17:78086373 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2823G>A (p.Leu941=) single nucleotide variant Cardiovascular phenotype [RCV002435005]|Glycogen storage disease, type II [RCV003102760] Chr17:80119295 [GRCh38]
Chr17:78093094 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2380del (p.Arg794fs) deletion Glycogen storage disease, type II [RCV002260937] Chr17:80117645 [GRCh38]
Chr17:78091444 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2602C>G (p.Leu868Val) single nucleotide variant Cardiovascular phenotype [RCV002437140] Chr17:80118313 [GRCh38]
Chr17:78092112 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2022C>T (p.His674=) single nucleotide variant Cardiovascular phenotype [RCV002419615]|Glycogen storage disease, type II [RCV003108097] Chr17:80113009 [GRCh38]
Chr17:78086808 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2574C>G (p.Phe858Leu) single nucleotide variant Cardiovascular phenotype [RCV002452790] Chr17:80118285 [GRCh38]
Chr17:78092084 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1191C>G (p.Pro397=) single nucleotide variant Cardiovascular phenotype [RCV002351413] Chr17:80108604 [GRCh38]
Chr17:78082403 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-10T>A single nucleotide variant not provided [RCV003130951] Chr17:80108479 [GRCh38]
Chr17:78082278 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2272G>T (p.Ala758Ser) single nucleotide variant Cardiovascular phenotype [RCV003301279] Chr17:80117050 [GRCh38]
Chr17:78090849 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1379A>G (p.Glu460Gly) single nucleotide variant not provided [RCV003144091] Chr17:80109997 [GRCh38]
Chr17:78083796 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1960T>G (p.Ser654Ala) single nucleotide variant not provided [RCV003144098] Chr17:80112947 [GRCh38]
Chr17:78086746 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.804G>C (p.Met268Ile) single nucleotide variant not provided [RCV003130958] Chr17:80107668 [GRCh38]
Chr17:78081467 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2020C>T (p.His674Tyr) single nucleotide variant not provided [RCV003144100] Chr17:80113007 [GRCh38]
Chr17:78086806 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del deletion Glycogen storage disease, type II [RCV002469950] Chr17:78082495..78087166 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.*187_*203delinsGGG indel not provided [RCV002505969] Chr17:80119518..80119534 [GRCh38]
Chr17:78093317..78093333 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2101C>G (p.Leu701Val) single nucleotide variant Glycogen storage disease, type II [RCV002302989] Chr17:80113278 [GRCh38]
Chr17:78087077 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1931C>A (p.Ala644Asp) single nucleotide variant not provided [RCV003130950] Chr17:80112918 [GRCh38]
Chr17:78086717 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.611C>T (p.Ala204Val) single nucleotide variant not provided [RCV003130954] Chr17:80105813 [GRCh38]
Chr17:78079612 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1637-4_1637-3delinsG indel Cardiovascular phenotype [RCV002403478] Chr17:80111979..80111980 [GRCh38]
Chr17:78085778..78085779 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.52C>T (p.Leu18Phe) single nucleotide variant Glycogen storage disease, type II [RCV002304196] Chr17:80104638 [GRCh38]
Chr17:78078437 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter) single nucleotide variant Glycogen storage disease, type II [RCV003234748] Chr17:80110814 [GRCh38]
Chr17:78084613 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1998C>T (p.Ala666=) single nucleotide variant Cardiovascular phenotype [RCV002417030] Chr17:80112985 [GRCh38]
Chr17:78086784 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile) single nucleotide variant Glycogen storage disease, type II [RCV002305283] Chr17:80117622 [GRCh38]
Chr17:78091421 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1296C>A (p.His432Gln) single nucleotide variant Cardiovascular phenotype [RCV002380649] Chr17:80108798 [GRCh38]
Chr17:78082597 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter) single nucleotide variant Glycogen storage disease, type II [RCV002308077] Chr17:80117097 [GRCh38]
Chr17:78090896 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1401C>T (p.Phe467=) single nucleotide variant Cardiovascular phenotype [RCV002389284] Chr17:80110019 [GRCh38]
Chr17:78083818 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs) insertion Glycogen storage disease, type II [RCV002310501] Chr17:80117613..80117614 [GRCh38]
Chr17:78091412..78091413 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.837G>T (p.Trp279Cys) single nucleotide variant Cardiovascular phenotype [RCV002434818] Chr17:80107701 [GRCh38]
Chr17:78081500 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1814del (p.Gly605fs) deletion Glycogen storage disease, type II [RCV002308272] Chr17:80112636 [GRCh38]
Chr17:78086435 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2336C>A (p.Pro779Gln) single nucleotide variant Cardiovascular phenotype [RCV002457656] Chr17:80117604 [GRCh38]
Chr17:78091403 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1720C>T (p.Leu574Phe) single nucleotide variant Cardiovascular phenotype [RCV002399054] Chr17:80112066 [GRCh38]
Chr17:78085865 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1966del (p.Glu656fs) deletion Glycogen storage disease, type II [RCV002310589] Chr17:80112952 [GRCh38]
Chr17:78086751 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys) single nucleotide variant Glycogen storage disease, type II [RCV002295595] Chr17:80110758 [GRCh38]
Chr17:78084557 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2367A>C (p.Pro789=) single nucleotide variant Cardiovascular phenotype [RCV002450145] Chr17:80117635 [GRCh38]
Chr17:78091434 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro) single nucleotide variant Glycogen storage disease, type II [RCV002296474]|not provided [RCV003138160] Chr17:80118747 [GRCh38]
Chr17:78092546 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2433G>A (p.Leu811=) single nucleotide variant Cardiovascular phenotype [RCV002450465] Chr17:80117701 [GRCh38]
Chr17:78091500 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1278C>T (p.Ala426=) single nucleotide variant Cardiovascular phenotype [RCV002443486] Chr17:80108780 [GRCh38]
Chr17:78082579 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1045A>G (p.Ser349Gly) single nucleotide variant Cardiovascular phenotype [RCV002405355] Chr17:80108379 [GRCh38]
Chr17:78082178 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2778C>T (p.Phe926=) single nucleotide variant Cardiovascular phenotype [RCV002439685]|Glycogen storage disease, type II [RCV003102202] Chr17:80118784 [GRCh38]
Chr17:78092583 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2166C>G (p.Thr722=) single nucleotide variant Cardiovascular phenotype [RCV002432648] Chr17:80113343 [GRCh38]
Chr17:78087142 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.829_830del (p.Thr277fs) deletion Glycogen storage disease, type II [RCV002309229] Chr17:80107692..80107693 [GRCh38]
Chr17:78081491..78081492 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser) single nucleotide variant Glycogen storage disease, type II [RCV002299121] Chr17:80118356 [GRCh38]
Chr17:78092155 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg) indel Glycogen storage disease, type II [RCV002303301] Chr17:80108292..80108293 [GRCh38]
Chr17:78082091..78082092 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1657C>A (p.Gln553Lys) single nucleotide variant Cardiovascular phenotype [RCV002403748] Chr17:80112003 [GRCh38]
Chr17:78085802 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs) deletion Glycogen storage disease, type II [RCV002307888] Chr17:80108744..80108745 [GRCh38]
Chr17:78082543..78082544 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs) deletion Glycogen storage disease, type II [RCV002308227] Chr17:80110964..80110965 [GRCh38]
Chr17:78084763..78084764 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.511G>C (p.Val171Leu) single nucleotide variant Cardiovascular phenotype [RCV002344183] Chr17:80105097 [GRCh38]
Chr17:78078896 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1251C>T (p.Asn417=) single nucleotide variant Cardiovascular phenotype [RCV002412105] Chr17:80108753 [GRCh38]
Chr17:78082552 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2493C>T (p.Leu831=) single nucleotide variant Cardiovascular phenotype [RCV002430971] Chr17:80118204 [GRCh38]
Chr17:78092003 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.513G>C (p.Val171=) single nucleotide variant Cardiovascular phenotype [RCV002344249]|Glycogen storage disease, type II [RCV003096629] Chr17:80105099 [GRCh38]
Chr17:78078898 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2370T>A (p.Pro790=) single nucleotide variant Cardiovascular phenotype [RCV002457775] Chr17:80117638 [GRCh38]
Chr17:78091437 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2818T>G (p.Ser940Ala) single nucleotide variant Cardiovascular phenotype [RCV002441774] Chr17:80119290 [GRCh38]
Chr17:78093089 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.330C>T (p.Tyr110=) single nucleotide variant Cardiovascular phenotype [RCV002326286] Chr17:80104916 [GRCh38]
Chr17:78078715 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2395del (p.His799fs) deletion Glycogen storage disease, type II [RCV002309535] Chr17:80117662 [GRCh38]
Chr17:78091461 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs) indel Glycogen storage disease, type II [RCV002309687] Chr17:80105798..80105802 [GRCh38]
Chr17:78079597..78079601 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2088del (p.Lys697fs) deletion Glycogen storage disease, type II [RCV002309529] Chr17:80113264 [GRCh38]
Chr17:78087063 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2431C>G (p.Leu811Val) single nucleotide variant Cardiovascular phenotype [RCV002459890]|Glycogen storage disease, type II [RCV003098871] Chr17:80117699 [GRCh38]
Chr17:78091498 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter) single nucleotide variant Glycogen storage disease, type II [RCV002306891] Chr17:80108354 [GRCh38]
Chr17:78082153 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2616C>T (p.Ala872=) single nucleotide variant Cardiovascular phenotype [RCV002426360]|Glycogen storage disease, type II [RCV003102032] Chr17:80118327 [GRCh38]
Chr17:78092126 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.502C>A (p.Arg168=) single nucleotide variant Cardiovascular phenotype [RCV002335611]|Glycogen storage disease, type II [RCV003096574] Chr17:80105088 [GRCh38]
Chr17:78078887 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2366C>G (p.Pro789Arg) single nucleotide variant Cardiovascular phenotype [RCV002450142] Chr17:80117634 [GRCh38]
Chr17:78091433 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2751C>G (p.Leu917=) single nucleotide variant Cardiovascular phenotype [RCV002439377]|Glycogen storage disease, type II [RCV003102177] Chr17:80118757 [GRCh38]
Chr17:78092556 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.841C>A (p.Arg281=) single nucleotide variant Glycogen storage disease, type II [RCV002862721] Chr17:80107705 [GRCh38]
Chr17:78081504 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-7C>T single nucleotide variant Glycogen storage disease, type II [RCV003012185] Chr17:80108482 [GRCh38]
Chr17:78082281 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1326+7G>A single nucleotide variant Glycogen storage disease, type II [RCV003013355] Chr17:80108835 [GRCh38]
Chr17:78082634 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.24C>T (p.Cys8=) single nucleotide variant Glycogen storage disease, type II [RCV002616518] Chr17:80104610 [GRCh38]
Chr17:78078409 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr) single nucleotide variant Glycogen storage disease, type II [RCV002971138]|not provided [RCV003134567] Chr17:80108341 [GRCh38]
Chr17:78082140 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2658G>T (p.Val886=) single nucleotide variant Glycogen storage disease, type II [RCV002775505] Chr17:80118664 [GRCh38]
Chr17:78092463 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2547G>A (p.Lys849=) single nucleotide variant Glycogen storage disease, type II [RCV003015607] Chr17:80118258 [GRCh38]
Chr17:78092057 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2388A>G (p.Pro796=) single nucleotide variant Glycogen storage disease, type II [RCV002837994] Chr17:80117656 [GRCh38]
Chr17:78091455 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe) single nucleotide variant Glycogen storage disease, type II [RCV002685842] Chr17:80116982 [GRCh38]
Chr17:78090781 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2469C>T (p.Ile823=) single nucleotide variant Glycogen storage disease, type II [RCV002904928] Chr17:80117737 [GRCh38]
Chr17:78091536 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu) single nucleotide variant Glycogen storage disease, type II [RCV002726308] Chr17:80112671 [GRCh38]
Chr17:78086470 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2082C>T (p.Ala694=) single nucleotide variant Glycogen storage disease, type II [RCV002690424] Chr17:80113259 [GRCh38]
Chr17:78087058 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.894C>T (p.Tyr298=) single nucleotide variant Glycogen storage disease, type II [RCV002618700] Chr17:80107835 [GRCh38]
Chr17:78081634 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys) single nucleotide variant Glycogen storage disease, type II [RCV002819806] Chr17:80104993 [GRCh38]
Chr17:78078792 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.752C>G (p.Ser251Trp) single nucleotide variant Glycogen storage disease, type II [RCV003103145]|not provided [RCV002462711] Chr17:80107616 [GRCh38]
Chr17:78081415 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2583T>C (p.Asp861=) single nucleotide variant Glycogen storage disease, type II [RCV002795017] Chr17:80118294 [GRCh38]
Chr17:78092093 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-9T>C single nucleotide variant Glycogen storage disease, type II [RCV003016751] Chr17:80109936 [GRCh38]
Chr17:78083735 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2349T>C (p.Leu783=) single nucleotide variant Glycogen storage disease, type II [RCV002616469] Chr17:80117617 [GRCh38]
Chr17:78091416 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2049G>A (p.Glu683=) single nucleotide variant Glycogen storage disease, type II [RCV003016659] Chr17:80113226 [GRCh38]
Chr17:78087025 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT insertion Glycogen storage disease, type II [RCV003076323] Chr17:80107729..80107730 [GRCh38]
Chr17:78081528..78081529 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2733G>A (p.Thr911=) single nucleotide variant Glycogen storage disease, type II [RCV002947870] Chr17:80118739 [GRCh38]
Chr17:78092538 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.333C>T (p.Ile111=) single nucleotide variant Glycogen storage disease, type II [RCV002843892] Chr17:80104919 [GRCh38]
Chr17:78078718 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2016G>A (p.Arg672=) single nucleotide variant Glycogen storage disease, type II [RCV002771013] Chr17:80113003 [GRCh38]
Chr17:78086802 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2729C>T (p.Ala910Val) single nucleotide variant Glycogen storage disease, type II [RCV002903916] Chr17:80118735 [GRCh38]
Chr17:78092534 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1752C>T (p.His584=) single nucleotide variant Glycogen storage disease, type II [RCV003014496] Chr17:80112098 [GRCh38]
Chr17:78085897 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.446C>A (p.Thr149Lys) single nucleotide variant Glycogen storage disease, type II [RCV002771440] Chr17:80105032 [GRCh38]
Chr17:78078831 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met) indel Glycogen storage disease, type II [RCV003033396] Chr17:80111984..80111985 [GRCh38]
Chr17:78085783..78085784 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.858+9G>A single nucleotide variant Glycogen storage disease, type II [RCV002863659] Chr17:80107731 [GRCh38]
Chr17:78081530 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.816C>G (p.Ser272Arg) single nucleotide variant Glycogen storage disease, type II [RCV002993879] Chr17:80107680 [GRCh38]
Chr17:78081479 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2529G>C (p.Leu843=) single nucleotide variant Glycogen storage disease, type II [RCV002862824] Chr17:80118240 [GRCh38]
Chr17:78092039 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser) single nucleotide variant Glycogen storage disease, type II [RCV003074649] Chr17:80108805 [GRCh38]
Chr17:78082604 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2772C>G (p.Ser924=) single nucleotide variant Glycogen storage disease, type II [RCV002881829] Chr17:80118778 [GRCh38]
Chr17:78092577 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1107G>A (p.Leu369=) single nucleotide variant Glycogen storage disease, type II [RCV002842578] Chr17:80108520 [GRCh38]
Chr17:78082319 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.711G>C (p.Ala237=) single nucleotide variant Glycogen storage disease, type II [RCV002615552] Chr17:80107575 [GRCh38]
Chr17:78081374 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1008C>T (p.Ile336=) single nucleotide variant Glycogen storage disease, type II [RCV002970671] Chr17:80108342 [GRCh38]
Chr17:78082141 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe) single nucleotide variant Glycogen storage disease, type II [RCV002615037] Chr17:80119327 [GRCh38]
Chr17:78093126 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2043C>G (p.Pro681=) single nucleotide variant Glycogen storage disease, type II [RCV002880720] Chr17:80113220 [GRCh38]
Chr17:78087019 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.844G>C (p.Asp282His) single nucleotide variant Glycogen storage disease, type II [RCV002512505] Chr17:80107708 [GRCh38]
Chr17:78081507 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1755-9C>T single nucleotide variant Glycogen storage disease, type II [RCV002881875] Chr17:80112569 [GRCh38]
Chr17:78086368 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.166C>A (p.His56Asn) single nucleotide variant Glycogen storage disease, type II [RCV002685537] Chr17:80104752 [GRCh38]
Chr17:78078551 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1637-11G>C single nucleotide variant Glycogen storage disease, type II [RCV002686352] Chr17:80111972 [GRCh38]
Chr17:78085771 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.87C>T (p.His29=) single nucleotide variant Glycogen storage disease, type II [RCV003075406] Chr17:80104673 [GRCh38]
Chr17:78078472 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.692+8C>G single nucleotide variant Glycogen storage disease, type II [RCV002842529] Chr17:80105902 [GRCh38]
Chr17:78079701 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.259A>C (p.Asn87His) single nucleotide variant Glycogen storage disease, type II [RCV002756136] Chr17:80104845 [GRCh38]
Chr17:78078644 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2718C>T (p.Val906=) single nucleotide variant Glycogen storage disease, type II [RCV002843530] Chr17:80118724 [GRCh38]
Chr17:78092523 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2820G>C (p.Ser940=) single nucleotide variant Glycogen storage disease, type II [RCV002996104] Chr17:80119292 [GRCh38]
Chr17:78093091 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1937del (p.Val646fs) deletion Glycogen storage disease, type II [RCV003034232] Chr17:80112924 [GRCh38]
Chr17:78086723 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2332-7C>T single nucleotide variant Glycogen storage disease, type II [RCV003076381] Chr17:80117593 [GRCh38]
Chr17:78091392 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.159C>A (p.His53Gln) single nucleotide variant Glycogen storage disease, type II [RCV002756165] Chr17:80104745 [GRCh38]
Chr17:78078544 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2736G>T (p.Ala912=) single nucleotide variant Glycogen storage disease, type II [RCV002613385] Chr17:80118742 [GRCh38]
Chr17:78092541 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1075+8del deletion Glycogen storage disease, type II [RCV003016935] Chr17:80108416 [GRCh38]
Chr17:78082215 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1888+5G>C single nucleotide variant Glycogen storage disease, type II [RCV002838089] Chr17:80112716 [GRCh38]
Chr17:78086515 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.922C>G (p.His308Asp) single nucleotide variant Glycogen storage disease, type II [RCV003073819] Chr17:80107863 [GRCh38]
Chr17:78081662 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2784C>T (p.Tyr928=) single nucleotide variant Glycogen storage disease, type II [RCV003011843] Chr17:80118790 [GRCh38]
Chr17:78092589 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.75A>T (p.Ala25=) single nucleotide variant Glycogen storage disease, type II [RCV002903332] Chr17:80104661 [GRCh38]
Chr17:78078460 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-11T>C single nucleotide variant Glycogen storage disease, type II [RCV002730663] Chr17:80108478 [GRCh38]
Chr17:78082277 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly) single nucleotide variant Glycogen storage disease, type II [RCV002971854] Chr17:80118690 [GRCh38]
Chr17:78092489 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2646+4A>C single nucleotide variant Glycogen storage disease, type II [RCV003016801] Chr17:80118361 [GRCh38]
Chr17:78092160 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2581G>C (p.Asp861His) single nucleotide variant Glycogen storage disease, type II [RCV003012320] Chr17:80118292 [GRCh38]
Chr17:78092091 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2571G>A (p.Leu857=) single nucleotide variant Glycogen storage disease, type II [RCV003021820] Chr17:80118282 [GRCh38]
Chr17:78092081 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr) single nucleotide variant Glycogen storage disease, type II [RCV002926831] Chr17:80112696 [GRCh38]
Chr17:78086495 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.515T>C (p.Met172Thr) single nucleotide variant Glycogen storage disease, type II [RCV003002545] Chr17:80105101 [GRCh38]
Chr17:78078900 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.637T>C (p.Phe213Leu) single nucleotide variant Glycogen storage disease, type II [RCV002820462] Chr17:80105839 [GRCh38]
Chr17:78079638 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2157G>T (p.Ala719=) single nucleotide variant Glycogen storage disease, type II [RCV002871513] Chr17:80113334 [GRCh38]
Chr17:78087133 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp) single nucleotide variant Glycogen storage disease, type II [RCV002885631] Chr17:80110011 [GRCh38]
Chr17:78083810 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.399C>T (p.Tyr133=) single nucleotide variant Glycogen storage disease, type II [RCV002889881] Chr17:80104985 [GRCh38]
Chr17:78078784 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1396G>T (p.Val466Phe) single nucleotide variant Glycogen storage disease, type II [RCV003081787] Chr17:80110014 [GRCh38]
Chr17:78083813 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.733T>G (p.Phe245Val) single nucleotide variant Glycogen storage disease, type II [RCV003081369] Chr17:80107597 [GRCh38]
Chr17:78081396 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1320G>A (p.Met440Ile) single nucleotide variant Glycogen storage disease, type II [RCV002953248] Chr17:80108822 [GRCh38]
Chr17:78082621 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.693-2A>C single nucleotide variant Glycogen storage disease, type II [RCV003021550] Chr17:80107555 [GRCh38]
Chr17:78081354 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp) single nucleotide variant Glycogen storage disease, type II [RCV003039386] Chr17:80112955 [GRCh38]
Chr17:78086754 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2041-9G>T single nucleotide variant Glycogen storage disease, type II [RCV003003150] Chr17:80113209 [GRCh38]
Chr17:78087008 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.700A>G (p.Thr234Ala) single nucleotide variant Glycogen storage disease, type II [RCV002740069]|not provided [RCV003146611] Chr17:80107564 [GRCh38]
Chr17:78081363 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala) single nucleotide variant Glycogen storage disease, type II [RCV002694762] Chr17:80112992 [GRCh38]
Chr17:78086791 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1023C>A (p.Ile341=) single nucleotide variant Glycogen storage disease, type II [RCV002825614] Chr17:80108357 [GRCh38]
Chr17:78082156 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1632G>T (p.Val544=) single nucleotide variant Glycogen storage disease, type II [RCV002795217] Chr17:80111021 [GRCh38]
Chr17:78084820 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+9G>T single nucleotide variant Glycogen storage disease, type II [RCV002871166] Chr17:80108616 [GRCh38]
Chr17:78082415 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1461C>T (p.Phe487=) single nucleotide variant Glycogen storage disease, type II [RCV002870790] Chr17:80110750 [GRCh38]
Chr17:78084549 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile) single nucleotide variant Glycogen storage disease, type II [RCV002705802] Chr17:80112628 [GRCh38]
Chr17:78086427 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.593C>T (p.Pro198Leu) single nucleotide variant Glycogen storage disease, type II [RCV002800140] Chr17:80105795 [GRCh38]
Chr17:78079594 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.971C>G (p.Pro324Arg) single nucleotide variant Glycogen storage disease, type II [RCV002953456] Chr17:80108305 [GRCh38]
Chr17:78082104 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1636+12C>T single nucleotide variant Glycogen storage disease, type II [RCV002846762] Chr17:80111037 [GRCh38]
Chr17:78084836 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1551+15del deletion Glycogen storage disease, type II [RCV002886514] Chr17:80110851 [GRCh38]
Chr17:78084650 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.1105dup (p.Leu369fs) duplication Glycogen storage disease, type II [RCV002847696] Chr17:80108516..80108517 [GRCh38]
Chr17:78082315..78082316 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.561T>A (p.Ala187=) single nucleotide variant Glycogen storage disease, type II [RCV003080225] Chr17:80105763 [GRCh38]
Chr17:78079562 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg) single nucleotide variant Glycogen storage disease, type II [RCV002846217] Chr17:80110983 [GRCh38]
Chr17:78084782 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn) single nucleotide variant Glycogen storage disease, type II [RCV002569632] Chr17:80108769 [GRCh38]
Chr17:78082568 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC indel Glycogen storage disease, type II [RCV002780301] Chr17:80104538..80104545 [GRCh38]
Chr17:78078337..78078344 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1195-16C>T single nucleotide variant Glycogen storage disease, type II [RCV003078364] Chr17:80108681 [GRCh38]
Chr17:78082480 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter) single nucleotide variant Glycogen storage disease, type II [RCV002796176] Chr17:80108787 [GRCh38]
Chr17:78082586 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.265C>A (p.Arg89Ser) single nucleotide variant Glycogen storage disease, type II [RCV002795518] Chr17:80104851 [GRCh38]
Chr17:78078650 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1092G>C (p.Pro364=) single nucleotide variant Glycogen storage disease, type II [RCV002886591] Chr17:80108505 [GRCh38]
Chr17:78082304 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1149C>T (p.Ile383=) single nucleotide variant Glycogen storage disease, type II [RCV002885109] Chr17:80108562 [GRCh38]
Chr17:78082361 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2070G>C (p.Pro690=) single nucleotide variant Glycogen storage disease, type II [RCV003020586] Chr17:80113247 [GRCh38]
Chr17:78087046 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2482-12T>C single nucleotide variant Glycogen storage disease, type II [RCV002976276] Chr17:80118181 [GRCh38]
Chr17:78091980 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr) single nucleotide variant Glycogen storage disease, type II [RCV003001829] Chr17:80108591 [GRCh38]
Chr17:78082390 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1637-19C>T single nucleotide variant Glycogen storage disease, type II [RCV003078463] Chr17:80111964 [GRCh38]
Chr17:78085763 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.609G>T (p.Arg203=) single nucleotide variant Glycogen storage disease, type II [RCV002636305] Chr17:80105811 [GRCh38]
Chr17:78079610 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1825T>C (p.Tyr609His) single nucleotide variant Glycogen storage disease, type II [RCV002909359] Chr17:80112648 [GRCh38]
Chr17:78086447 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.792C>T (p.Leu264=) single nucleotide variant Glycogen storage disease, type II [RCV002636491] Chr17:80107656 [GRCh38]
Chr17:78081455 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.619C>T (p.Pro207Ser) single nucleotide variant Glycogen storage disease, type II [RCV002658874] Chr17:80105821 [GRCh38]
Chr17:78079620 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1200C>T (p.Val400=) single nucleotide variant Glycogen storage disease, type II [RCV002824080] Chr17:80108702 [GRCh38]
Chr17:78082501 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp) indel Glycogen storage disease, type II [RCV002848180] Chr17:80110010..80110011 [GRCh38]
Chr17:78083809..78083810 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.692+20C>T single nucleotide variant Glycogen storage disease, type II [RCV003037636] Chr17:80105914 [GRCh38]
Chr17:78079713 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2800-1G>A single nucleotide variant Glycogen storage disease, type II [RCV002761303] Chr17:80119271 [GRCh38]
Chr17:78093070 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser) single nucleotide variant Glycogen storage disease, type II [RCV003077445] Chr17:80108367 [GRCh38]
Chr17:78082166 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala) single nucleotide variant Glycogen storage disease, type II [RCV002735228] Chr17:80109963 [GRCh38]
Chr17:78083762 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.522G>A (p.Glu174=) single nucleotide variant Glycogen storage disease, type II [RCV003036808] Chr17:80105108 [GRCh38]
Chr17:78078907 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.859-14C>G single nucleotide variant Glycogen storage disease, type II [RCV002590573] Chr17:80107786 [GRCh38]
Chr17:78081585 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1426C>T (p.Leu476=) single nucleotide variant Glycogen storage disease, type II [RCV003078797] Chr17:80110044 [GRCh38]
Chr17:78083843 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1976T>C (p.Val659Ala) single nucleotide variant not specified [RCV002510429] Chr17:80112963 [GRCh38]
Chr17:78086762 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.258C>G (p.Pro86=) single nucleotide variant Glycogen storage disease, type II [RCV003054937] Chr17:80104844 [GRCh38]
Chr17:78078643 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.584T>A (p.Leu195Ter) single nucleotide variant Glycogen storage disease, type II [RCV003054939] Chr17:80105786 [GRCh38]
Chr17:78079585 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.955+11C>T single nucleotide variant Glycogen storage disease, type II [RCV002640010] Chr17:80107907 [GRCh38]
Chr17:78081706 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1172T>A (p.Met391Lys) single nucleotide variant Glycogen storage disease, type II [RCV002923394] Chr17:80108585 [GRCh38]
Chr17:78082384 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2001C>T (p.Phe667=) single nucleotide variant Glycogen storage disease, type II [RCV002886392] Chr17:80112988 [GRCh38]
Chr17:78086787 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.415G>A (p.Glu139Lys) single nucleotide variant Glycogen storage disease, type II [RCV002621510] Chr17:80105001 [GRCh38]
Chr17:78078800 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.613C>G (p.Pro205Ala) single nucleotide variant Glycogen storage disease, type II [RCV002695217] Chr17:80105815 [GRCh38]
Chr17:78079614 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1234A>C (p.Arg412=) single nucleotide variant Glycogen storage disease, type II [RCV003021322] Chr17:80108736 [GRCh38]
Chr17:78082535 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg) single nucleotide variant Glycogen storage disease, type II [RCV002909486] Chr17:80118711 [GRCh38]
Chr17:78092510 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1327-5C>T single nucleotide variant Glycogen storage disease, type II [RCV002910212] Chr17:80109940 [GRCh38]
Chr17:78083739 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1075+10G>A single nucleotide variant Glycogen storage disease, type II [RCV002846471] Chr17:80108419 [GRCh38]
Chr17:78082218 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1711C>G (p.Leu571Val) single nucleotide variant Glycogen storage disease, type II [RCV003079663] Chr17:80112057 [GRCh38]
Chr17:78085856 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1246T>G (p.Phe416Val) single nucleotide variant Glycogen storage disease, type II [RCV003055053] Chr17:80108748 [GRCh38]
Chr17:78082547 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter) single nucleotide variant Glycogen storage disease, type II [RCV002949368] Chr17:80108816 [GRCh38]
Chr17:78082615 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1075+18G>A single nucleotide variant Glycogen storage disease, type II [RCV002846753] Chr17:80108427 [GRCh38]
Chr17:78082226 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1160T>C (p.Val387Ala) single nucleotide variant Glycogen storage disease, type II [RCV002619404] Chr17:80108573 [GRCh38]
Chr17:78082372 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2702dup (p.Gln902fs) duplication Glycogen storage disease, type II [RCV002870711] Chr17:80118707..80118708 [GRCh38]
Chr17:78092506..78092507 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1911G>A (p.Leu637=) single nucleotide variant Glycogen storage disease, type II [RCV003002585] Chr17:80112898 [GRCh38]
Chr17:78086697 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.547-5_547-4delinsGG indel Glycogen storage disease, type II [RCV003080965] Chr17:80105744..80105745 [GRCh38]
Chr17:78079543..78079544 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1005G>C (p.Gly335=) single nucleotide variant Glycogen storage disease, type II [RCV002825025] Chr17:80108339 [GRCh38]
Chr17:78082138 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser) single nucleotide variant Glycogen storage disease, type II [RCV002619492] Chr17:80108503 [GRCh38]
Chr17:78082302 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2472C>A (p.Ile824=) single nucleotide variant Glycogen storage disease, type II [RCV003080795] Chr17:80117740 [GRCh38]
Chr17:78091539 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2652G>T (p.Thr884=) single nucleotide variant Glycogen storage disease, type II [RCV002999737] Chr17:80118658 [GRCh38]
Chr17:78092457 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1484C>T (p.Ala495Val) single nucleotide variant Glycogen storage disease, type II [RCV002636850]|not provided [RCV003143515] Chr17:80110773 [GRCh38]
Chr17:78084572 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.414G>A (p.Leu138=) single nucleotide variant Glycogen storage disease, type II [RCV002885124] Chr17:80105000 [GRCh38]
Chr17:78078799 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2646+4A>G single nucleotide variant Glycogen storage disease, type II [RCV002691257] Chr17:80118361 [GRCh38]
Chr17:78092160 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1888+18G>C single nucleotide variant Glycogen storage disease, type II [RCV003056492] Chr17:80112729 [GRCh38]
Chr17:78086528 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+3GGGCA[3] microsatellite Glycogen storage disease, type II [RCV002643448] Chr17:80105134..80105135 [GRCh38]
Chr17:78078933..78078934 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.557C>A (p.Pro186Gln) single nucleotide variant Glycogen storage disease, type II [RCV002894930] Chr17:80105759 [GRCh38]
Chr17:78079558 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.717G>T (p.Leu239=) single nucleotide variant Glycogen storage disease, type II [RCV003024985] Chr17:80107581 [GRCh38]
Chr17:78081380 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys) single nucleotide variant Glycogen storage disease, type II [RCV003084789] Chr17:80112703 [GRCh38]
Chr17:78086502 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg) single nucleotide variant Glycogen storage disease, type II [RCV003043631] Chr17:80118804 [GRCh38]
Chr17:78092603 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1882G>C (p.Val628Leu) single nucleotide variant Glycogen storage disease, type II [RCV002594742] Chr17:80112705 [GRCh38]
Chr17:78086504 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser) single nucleotide variant Glycogen storage disease, type II [RCV003057222]|not provided [RCV003138455] Chr17:80118720 [GRCh38]
Chr17:78092519 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.117C>T (p.Pro39=) single nucleotide variant Glycogen storage disease, type II [RCV002644345] Chr17:80104703 [GRCh38]
Chr17:78078502 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+19dup duplication Glycogen storage disease, type II [RCV002593924] Chr17:80108625..80108626 [GRCh38]
Chr17:78082424..78082425 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser) single nucleotide variant Glycogen storage disease, type II [RCV003083785] Chr17:80108811 [GRCh38]
Chr17:78082610 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1076-13C>T single nucleotide variant Glycogen storage disease, type II [RCV003007400] Chr17:80108476 [GRCh38]
Chr17:78082275 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2220G>A (p.Val740=) single nucleotide variant Glycogen storage disease, type II [RCV003041725] Chr17:80116998 [GRCh38]
Chr17:78090797 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1551+20G>A single nucleotide variant Glycogen storage disease, type II [RCV003055939] Chr17:80110860 [GRCh38]
Chr17:78084659 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.621A>C (p.Pro207=) single nucleotide variant Glycogen storage disease, type II [RCV003023424] Chr17:80105823 [GRCh38]
Chr17:78079622 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2040+2T>G single nucleotide variant Glycogen storage disease, type II [RCV002643069] Chr17:80113029 [GRCh38]
Chr17:78086828 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.2189+10_2189+11del deletion Glycogen storage disease, type II [RCV002595293] Chr17:80113376..80113377 [GRCh38]
Chr17:78087175..78087176 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2314del (p.Trp772fs) deletion Glycogen storage disease, type II [RCV003023912] Chr17:80117092 [GRCh38]
Chr17:78090891 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro) single nucleotide variant Glycogen storage disease, type II [RCV002575040] Chr17:80112882 [GRCh38]
Chr17:78086681 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.786G>A (p.Glu262=) single nucleotide variant Glycogen storage disease, type II [RCV003057194] Chr17:80107650 [GRCh38]
Chr17:78081449 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC insertion Glycogen storage disease, type II [RCV003057359] Chr17:80107727..80107728 [GRCh38]
Chr17:78081526..78081527 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.858+19G>T single nucleotide variant Glycogen storage disease, type II [RCV003057360] Chr17:80107741 [GRCh38]
Chr17:78081540 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.613C>T (p.Pro205Ser) single nucleotide variant Glycogen storage disease, type II [RCV002801804] Chr17:80105815 [GRCh38]
Chr17:78079614 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu) single nucleotide variant Glycogen storage disease, type II [RCV002983068] Chr17:80110042 [GRCh38]
Chr17:78083841 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1755-12C>A single nucleotide variant Glycogen storage disease, type II [RCV002805523] Chr17:80112566 [GRCh38]
Chr17:78086365 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-14dup duplication Glycogen storage disease, type II [RCV002667589] Chr17:80113199..80113200 [GRCh38]
Chr17:78086998..78086999 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.2402del (p.Glu801fs) deletion not provided [RCV002508885] Chr17:80117670 [GRCh38]
Chr17:78091469 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.567G>A (p.Arg189=) single nucleotide variant Glycogen storage disease, type II [RCV003025971] Chr17:80105769 [GRCh38]
Chr17:78079568 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln) single nucleotide variant Glycogen storage disease, type II [RCV002625231] Chr17:80119329 [GRCh38]
Chr17:78093128 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2481+20A>G single nucleotide variant Glycogen storage disease, type II [RCV002595480] Chr17:80117769 [GRCh38]
Chr17:78091568 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2850C>T (p.Ser950=) single nucleotide variant Cardiovascular phenotype [RCV003308401]|Glycogen storage disease, type II [RCV003007228] Chr17:80119322 [GRCh38]
Chr17:78093121 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu) single nucleotide variant Glycogen storage disease, type II [RCV003007973] Chr17:80111992 [GRCh38]
Chr17:78085791 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2152G>C (p.Val718Leu) single nucleotide variant Glycogen storage disease, type II [RCV002958862] Chr17:80113329 [GRCh38]
Chr17:78087128 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1755-19G>A single nucleotide variant Glycogen storage disease, type II [RCV002982617] Chr17:80112559 [GRCh38]
Chr17:78086358 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly) single nucleotide variant Glycogen storage disease, type II [RCV002711208] Chr17:80110968 [GRCh38]
Chr17:78084767 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser) single nucleotide variant Glycogen storage disease, type II [RCV003022844] Chr17:80110027 [GRCh38]
Chr17:78083826 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser) single nucleotide variant Glycogen storage disease, type II [RCV002597045] Chr17:80117630 [GRCh38]
Chr17:78091429 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter) single nucleotide variant Glycogen storage disease, type II [RCV002871829] Chr17:80118288 [GRCh38]
Chr17:78092087 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2463G>C (p.Gly821=) single nucleotide variant Glycogen storage disease, type II [RCV002576221] Chr17:80117731 [GRCh38]
Chr17:78091530 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.587del (p.Glu196fs) deletion Glycogen storage disease, type II [RCV002801078] Chr17:80105789 [GRCh38]
Chr17:78079588 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.497C>T (p.Thr166Ile) single nucleotide variant Glycogen storage disease, type II [RCV003082401] Chr17:80105083 [GRCh38]
Chr17:78078882 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2332-9T>C single nucleotide variant Glycogen storage disease, type II [RCV002893901] Chr17:80117591 [GRCh38]
Chr17:78091390 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-14del deletion Glycogen storage disease, type II [RCV002875881] Chr17:80113200 [GRCh38]
Chr17:78086999 [GRCh37]
Chr17:17q25.3
benign
NM_000152.5(GAA):c.956A>G (p.Asp319Gly) single nucleotide variant Glycogen storage disease, type II [RCV002576060] Chr17:80108290 [GRCh38]
Chr17:78082089 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp) single nucleotide variant Glycogen storage disease, type II [RCV003084566] Chr17:80111000 [GRCh38]
Chr17:78084799 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2331+6T>G single nucleotide variant Glycogen storage disease, type II [RCV003025236] Chr17:80117115 [GRCh38]
Chr17:78090914 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1754+2T>C single nucleotide variant Glycogen storage disease, type II [RCV002667301] Chr17:80112102 [GRCh38]
Chr17:78085901 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1437+20G>C single nucleotide variant Glycogen storage disease, type II [RCV002596546] Chr17:80110075 [GRCh38]
Chr17:78083874 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2185C>T (p.Leu729=) single nucleotide variant Glycogen storage disease, type II [RCV002871907] Chr17:80113362 [GRCh38]
Chr17:78087161 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.552A>G (p.Lys184=) single nucleotide variant Glycogen storage disease, type II [RCV002828919] Chr17:80105754 [GRCh38]
Chr17:78079553 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.282T>C (p.Pro94=) single nucleotide variant Glycogen storage disease, type II [RCV003059219] Chr17:80104868 [GRCh38]
Chr17:78078667 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg) single nucleotide variant Glycogen storage disease, type II [RCV002805357] Chr17:80110011 [GRCh38]
Chr17:78083810 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1551+4A>C single nucleotide variant Glycogen storage disease, type II [RCV002851041] Chr17:80110844 [GRCh38]
Chr17:78084643 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1362C>T (p.Ser454=) single nucleotide variant Glycogen storage disease, type II [RCV002805273] Chr17:80109980 [GRCh38]
Chr17:78083779 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del) microsatellite Glycogen storage disease, type II [RCV002852433] Chr17:80108547..80108549 [GRCh38]
Chr17:78082346..78082348 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1314C>T (p.Tyr438=) single nucleotide variant Glycogen storage disease, type II [RCV003022158] Chr17:80108816 [GRCh38]
Chr17:78082615 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp) single nucleotide variant Glycogen storage disease, type II [RCV003041146]|not provided [RCV003146740] Chr17:80118765 [GRCh38]
Chr17:78092564 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.851C>A (p.Ala284Glu) single nucleotide variant Glycogen storage disease, type II [RCV003084333] Chr17:80107715 [GRCh38]
Chr17:78081514 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1731G>T (p.Leu577=) single nucleotide variant Glycogen storage disease, type II [RCV002852722] Chr17:80112077 [GRCh38]
Chr17:78085876 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+20G>C single nucleotide variant Glycogen storage disease, type II [RCV002802101] Chr17:80108627 [GRCh38]
Chr17:78082426 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1326+8C>G single nucleotide variant Glycogen storage disease, type II [RCV003048960] Chr17:80108836 [GRCh38]
Chr17:78082635 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro) single nucleotide variant Glycogen storage disease, type II [RCV003091929] Chr17:80117684 [GRCh38]
Chr17:78091483 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.821C>T (p.Thr274Ile) single nucleotide variant Glycogen storage disease, type II [RCV003061292] Chr17:80107685 [GRCh38]
Chr17:78081484 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2391C>G (p.Ala797=) single nucleotide variant Glycogen storage disease, type II [RCV003049189] Chr17:80117659 [GRCh38]
Chr17:78091458 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln) single nucleotide variant Glycogen storage disease, type II [RCV002629370] Chr17:80108370 [GRCh38]
Chr17:78082169 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg) single nucleotide variant Glycogen storage disease, type II [RCV003066037] Chr17:80118702 [GRCh38]
Chr17:78092501 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.547A>G (p.Ile183Val) single nucleotide variant Glycogen storage disease, type II [RCV003066005] Chr17:80105749 [GRCh38]
Chr17:78079548 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2100C>A (p.Thr700=) single nucleotide variant Glycogen storage disease, type II [RCV002602880] Chr17:80113277 [GRCh38]
Chr17:78087076 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2511C>T (p.Arg837=) single nucleotide variant Glycogen storage disease, type II [RCV002581840] Chr17:80118222 [GRCh38]
Chr17:78092021 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1728C>T (p.Gly576=) single nucleotide variant Glycogen storage disease, type II [RCV003047518] Chr17:80112074 [GRCh38]
Chr17:78085873 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys) single nucleotide variant Glycogen storage disease, type II [RCV003030285] Chr17:80112642 [GRCh38]
Chr17:78086441 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2647-2A>G single nucleotide variant Glycogen storage disease, type II [RCV002966541] Chr17:80118651 [GRCh38]
Chr17:78092450 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2695C>T (p.Leu899=) single nucleotide variant Glycogen storage disease, type II [RCV003047109] Chr17:80118701 [GRCh38]
Chr17:78092500 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs) duplication Glycogen storage disease, type II [RCV002877426] Chr17:80112960..80112961 [GRCh38]
Chr17:78086759..78086760 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1746C>T (p.Ala582=) single nucleotide variant Glycogen storage disease, type II [RCV002579955] Chr17:80112092 [GRCh38]
Chr17:78085891 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.866C>A (p.Ala289Glu) single nucleotide variant Glycogen storage disease, type II [RCV003061338] Chr17:80107807 [GRCh38]
Chr17:78081606 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2358C>A (p.Leu786=) single nucleotide variant Glycogen storage disease, type II [RCV003027261] Chr17:80117626 [GRCh38]
Chr17:78091425 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1755-5C>T single nucleotide variant Glycogen storage disease, type II [RCV003008480] Chr17:80112573 [GRCh38]
Chr17:78086372 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1194+13G>A single nucleotide variant Glycogen storage disease, type II [RCV002746630] Chr17:80108620 [GRCh38]
Chr17:78082419 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1323C>A (p.Ile441=) single nucleotide variant Glycogen storage disease, type II [RCV002898627] Chr17:80108825 [GRCh38]
Chr17:78082624 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1075+14C>G single nucleotide variant Glycogen storage disease, type II [RCV002746060] Chr17:80108423 [GRCh38]
Chr17:78082222 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1833C>T (p.Gly611=) single nucleotide variant Glycogen storage disease, type II [RCV002962838] Chr17:80112656 [GRCh38]
Chr17:78086455 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu) single nucleotide variant Glycogen storage disease, type II [RCV002922330] Chr17:80108504 [GRCh38]
Chr17:78082303 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.859-4C>G single nucleotide variant Glycogen storage disease, type II [RCV003061647] Chr17:80107796 [GRCh38]
Chr17:78081595 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1755-17G>A single nucleotide variant Glycogen storage disease, type II [RCV002857656] Chr17:80112561 [GRCh38]
Chr17:78086360 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2800-16G>A single nucleotide variant Glycogen storage disease, type II [RCV003061653] Chr17:80119256 [GRCh38]
Chr17:78093055 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2760T>C (p.Gly920=) single nucleotide variant Glycogen storage disease, type II [RCV003044135] Chr17:80118766 [GRCh38]
Chr17:78092565 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2364C>T (p.Pro788=) single nucleotide variant Glycogen storage disease, type II [RCV002630248] Chr17:80117632 [GRCh38]
Chr17:78091431 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser) single nucleotide variant Glycogen storage disease, type II [RCV003087709]|not provided [RCV003143480] Chr17:80110766 [GRCh38]
Chr17:78084565 [GRCh37]
Chr17:17q25.3
likely pathogenic|uncertain significance
NM_000152.5(GAA):c.596A>T (p.His199Leu) single nucleotide variant Glycogen storage disease, type II [RCV002714988] Chr17:80105798 [GRCh38]
Chr17:78079597 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.58T>A (p.Ser20Thr) single nucleotide variant Glycogen storage disease, type II [RCV003060969] Chr17:80104644 [GRCh38]
Chr17:78078443 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe) single nucleotide variant Glycogen storage disease, type II [RCV003028635] Chr17:80112039 [GRCh38]
Chr17:78085838 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1869G>T (p.Gln623His) single nucleotide variant Glycogen storage disease, type II [RCV003062508] Chr17:80112692 [GRCh38]
Chr17:78086491 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys) single nucleotide variant Glycogen storage disease, type II [RCV002745939] Chr17:80117016 [GRCh38]
Chr17:78090815 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1551+6T>C single nucleotide variant Glycogen storage disease, type II [RCV002856801] Chr17:80110846 [GRCh38]
Chr17:78084645 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu) single nucleotide variant Glycogen storage disease, type II [RCV002650610] Chr17:80110821 [GRCh38]
Chr17:78084620 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2482-16G>A single nucleotide variant Glycogen storage disease, type II [RCV002671306] Chr17:80118177 [GRCh38]
Chr17:78091976 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2190-16C>T single nucleotide variant Glycogen storage disease, type II [RCV003090730] Chr17:80116952 [GRCh38]
Chr17:78090751 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile) single nucleotide variant Glycogen storage disease, type II [RCV002628506] Chr17:80118209 [GRCh38]
Chr17:78092008 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.546+5G>A single nucleotide variant Glycogen storage disease, type II [RCV003061440]|not provided [RCV003314053] Chr17:80105137 [GRCh38]
Chr17:78078936 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.194C>T (p.Pro65Leu) single nucleotide variant Glycogen storage disease, type II [RCV003063511] Chr17:80104780 [GRCh38]
Chr17:78078579 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2247C>A (p.Ala749=) single nucleotide variant Glycogen storage disease, type II [RCV002857039] Chr17:80117025 [GRCh38]
Chr17:78090824 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.666G>A (p.Val222=) single nucleotide variant Glycogen storage disease, type II [RCV002651016] Chr17:80105868 [GRCh38]
Chr17:78079667 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2799+15A>G single nucleotide variant Glycogen storage disease, type II [RCV002895604] Chr17:80118820 [GRCh38]
Chr17:78092619 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg) single nucleotide variant Glycogen storage disease, type II [RCV002629939] Chr17:80111991 [GRCh38]
Chr17:78085790 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2482-9C>A single nucleotide variant Glycogen storage disease, type II [RCV002628570] Chr17:80118184 [GRCh38]
Chr17:78091983 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys) single nucleotide variant Glycogen storage disease, type II [RCV002810594] Chr17:80110969 [GRCh38]
Chr17:78084768 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.598G>T (p.Val200Phe) single nucleotide variant Glycogen storage disease, type II [RCV003086051]|not provided [RCV003138503] Chr17:80105800 [GRCh38]
Chr17:78079599 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.423G>A (p.Leu141=) single nucleotide variant Glycogen storage disease, type II [RCV002833044] Chr17:80105009 [GRCh38]
Chr17:78078808 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.777C>G (p.Gly259=) single nucleotide variant Glycogen storage disease, type II [RCV002716821] Chr17:80107641 [GRCh38]
Chr17:78081440 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+2T>C single nucleotide variant Glycogen storage disease, type II [RCV003064492] Chr17:80105134 [GRCh38]
Chr17:78078933 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.595_596inv (p.His199Cys) inversion Glycogen storage disease, type II [RCV003060266] Chr17:80105797..80105798 [GRCh38]
Chr17:78079596..78079597 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.739C>T (p.Gln247Ter) single nucleotide variant Glycogen storage disease, type II [RCV002856619] Chr17:80107603 [GRCh38]
Chr17:78081402 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys) single nucleotide variant Glycogen storage disease, type II [RCV002645930]|not provided [RCV003134462] Chr17:80117648 [GRCh38]
Chr17:78091447 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg) single nucleotide variant Glycogen storage disease, type II [RCV002877500] Chr17:80109988 [GRCh38]
Chr17:78083787 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1636+15C>G single nucleotide variant Glycogen storage disease, type II [RCV003062922] Chr17:80111040 [GRCh38]
Chr17:78084839 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1326+12C>G single nucleotide variant Glycogen storage disease, type II [RCV002899180] Chr17:80108840 [GRCh38]
Chr17:78082639 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser) single nucleotide variant Glycogen storage disease, type II [RCV003029536] Chr17:80118728 [GRCh38]
Chr17:78092527 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.990G>C (p.Trp330Cys) single nucleotide variant Glycogen storage disease, type II [RCV002966164] Chr17:80108324 [GRCh38]
Chr17:78082123 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2157G>C (p.Ala719=) single nucleotide variant Glycogen storage disease, type II [RCV002602196] Chr17:80113334 [GRCh38]
Chr17:78087133 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser) single nucleotide variant Glycogen storage disease, type II [RCV003045709] Chr17:80112708 [GRCh38]
Chr17:78086507 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1508T>C (p.Val503Ala) single nucleotide variant Glycogen storage disease, type II [RCV003048320] Chr17:80110797 [GRCh38]
Chr17:78084596 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr) single nucleotide variant Glycogen storage disease, type II [RCV002715942] Chr17:80117627 [GRCh38]
Chr17:78091426 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.-32-3del deletion Glycogen storage disease, type II [RCV002966981] Chr17:80104552 [GRCh38]
Chr17:78078351 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2799+4A>T single nucleotide variant Glycogen storage disease, type II [RCV003029190] Chr17:80118809 [GRCh38]
Chr17:78092608 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter) single nucleotide variant Glycogen storage disease, type II [RCV002580333] Chr17:80112650 [GRCh38]
Chr17:78086449 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1326G>A (p.Val442=) single nucleotide variant Glycogen storage disease, type II [RCV003062698] Chr17:80108828 [GRCh38]
Chr17:78082627 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter) single nucleotide variant Glycogen storage disease, type II [RCV003064493] Chr17:80108388 [GRCh38]
Chr17:78082187 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.961G>T (p.Val321Phe) single nucleotide variant Glycogen storage disease, type II [RCV002647006] Chr17:80108295 [GRCh38]
Chr17:78082094 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile) single nucleotide variant Glycogen storage disease, type II [RCV003086613] Chr17:80116988 [GRCh38]
Chr17:78090787 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1472_1474del (p.Thr491del) deletion Glycogen storage disease, type II [RCV003045567] Chr17:80110759..80110761 [GRCh38]
Chr17:78084558..78084560 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1637-12_1637-9del deletion Glycogen storage disease, type II [RCV003089385] Chr17:80111969..80111972 [GRCh38]
Chr17:78085768..78085771 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro) single nucleotide variant Glycogen storage disease, type II [RCV002899543] Chr17:80112090 [GRCh38]
Chr17:78085889 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1551+15C>G single nucleotide variant Glycogen storage disease, type II [RCV003060552] Chr17:80110855 [GRCh38]
Chr17:78084654 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys) single nucleotide variant Glycogen storage disease, type II [RCV003050493]|not provided [RCV003138470] Chr17:80105774 [GRCh38]
Chr17:78079573 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2363C>A (p.Pro788His) single nucleotide variant Glycogen storage disease, type II [RCV002721384] Chr17:80117631 [GRCh38]
Chr17:78091430 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.272A>G (p.Asp91Gly) single nucleotide variant not provided [RCV003144094] Chr17:80104858 [GRCh38]
Chr17:78078657 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.485A>G (p.Lys162Arg) single nucleotide variant Glycogen storage disease, type II [RCV003066465] Chr17:80105071 [GRCh38]
Chr17:78078870 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1076-12G>A single nucleotide variant Glycogen storage disease, type II [RCV002633425] Chr17:80108477 [GRCh38]
Chr17:78082276 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg) single nucleotide variant Glycogen storage disease, type II [RCV003066472] Chr17:80113241 [GRCh38]
Chr17:78087040 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1315A>G (p.Met439Val) single nucleotide variant Glycogen storage disease, type II [RCV003052669] Chr17:80108817 [GRCh38]
Chr17:78082616 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1636+18C>T single nucleotide variant Glycogen storage disease, type II [RCV002605693] Chr17:80111043 [GRCh38]
Chr17:78084842 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys) single nucleotide variant Glycogen storage disease, type II [RCV002814753] Chr17:80108388 [GRCh38]
Chr17:78082187 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2734del (p.Ala912fs) deletion Glycogen storage disease, type II [RCV002634648] Chr17:80118739 [GRCh38]
Chr17:78092538 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys) single nucleotide variant Glycogen storage disease, type II [RCV002584504] Chr17:80117609 [GRCh38]
Chr17:78091408 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.506T>C (p.Leu169Pro) single nucleotide variant not provided [RCV003130953] Chr17:80105092 [GRCh38]
Chr17:78078891 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr) single nucleotide variant not provided [RCV003130956] Chr17:80112927 [GRCh38]
Chr17:78086726 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.693-19G>T single nucleotide variant Glycogen storage disease, type II [RCV002585849] Chr17:80107538 [GRCh38]
Chr17:78081337 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.237C>T (p.Pro79=) single nucleotide variant Glycogen storage disease, type II [RCV002586746] Chr17:80104823 [GRCh38]
Chr17:78078622 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys) single nucleotide variant Glycogen storage disease, type II [RCV003071567] Chr17:80118764 [GRCh38]
Chr17:78092563 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.861C>G (p.Pro287=) single nucleotide variant Glycogen storage disease, type II [RCV002634689] Chr17:80107802 [GRCh38]
Chr17:78081601 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.934C>T (p.Leu312=) single nucleotide variant Glycogen storage disease, type II [RCV002608625] Chr17:80107875 [GRCh38]
Chr17:78081674 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1107G>C (p.Leu369=) single nucleotide variant Glycogen storage disease, type II [RCV002582768] Chr17:80108520 [GRCh38]
Chr17:78082319 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.859-18G>C single nucleotide variant Glycogen storage disease, type II [RCV003052145] Chr17:80107782 [GRCh38]
Chr17:78081581 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.955+18C>T single nucleotide variant Glycogen storage disease, type II [RCV002635861] Chr17:80107914 [GRCh38]
Chr17:78081713 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+16G>A single nucleotide variant Glycogen storage disease, type II [RCV002588459] Chr17:80105148 [GRCh38]
Chr17:78078947 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1731G>A (p.Leu577=) single nucleotide variant Glycogen storage disease, type II [RCV002634808] Chr17:80112077 [GRCh38]
Chr17:78085876 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp) single nucleotide variant Glycogen storage disease, type II [RCV003071453] Chr17:80109998 [GRCh38]
Chr17:78083797 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.859-14C>T single nucleotide variant Glycogen storage disease, type II [RCV003092702] Chr17:80107786 [GRCh38]
Chr17:78081585 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del) microsatellite Glycogen storage disease, type II [RCV002814630] Chr17:80108571..80108573 [GRCh38]
Chr17:78082370..78082372 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1956C>T (p.Asn652=) single nucleotide variant Glycogen storage disease, type II [RCV002611238] Chr17:80112943 [GRCh38]
Chr17:78086742 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe) single nucleotide variant Glycogen storage disease, type II [RCV003052773] Chr17:80117044 [GRCh38]
Chr17:78090843 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1326+16C>G single nucleotide variant Glycogen storage disease, type II [RCV002611612] Chr17:80108844 [GRCh38]
Chr17:78082643 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.897G>C (p.Leu299=) single nucleotide variant Glycogen storage disease, type II [RCV002589276] Chr17:80107838 [GRCh38]
Chr17:78081637 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter) single nucleotide variant Glycogen storage disease, type II [RCV003050496] Chr17:80112650 [GRCh38]
Chr17:78086449 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.264C>G (p.Ser88Arg) single nucleotide variant Glycogen storage disease, type II [RCV003070816] Chr17:80104850 [GRCh38]
Chr17:78078649 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2646+3G>A single nucleotide variant Glycogen storage disease, type II [RCV002586265] Chr17:80118360 [GRCh38]
Chr17:78092159 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1755-20G>A single nucleotide variant Glycogen storage disease, type II [RCV003073416] Chr17:80112558 [GRCh38]
Chr17:78086357 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1961C>G (p.Ser654Ter) single nucleotide variant not provided [RCV003145756] Chr17:80112948 [GRCh38]
Chr17:78086747 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1541del (p.Gly514fs) deletion not provided [RCV003145761] Chr17:80110829 [GRCh38]
Chr17:78084628 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1552-2A>C single nucleotide variant not provided [RCV003145767] Chr17:80110939 [GRCh38]
Chr17:78084738 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro) single nucleotide variant Glycogen storage disease, type II [RCV003155907] Chr17:80112009 [GRCh38]
Chr17:78085808 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2465A>G (p.Tyr822Cys) single nucleotide variant Cardiovascular phenotype [RCV003216455] Chr17:80117733 [GRCh38]
Chr17:78091532 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2591G>A (p.Ser864Asn) single nucleotide variant Inborn genetic diseases [RCV003210969] Chr17:80118302 [GRCh38]
Chr17:78092101 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2444A>T (p.Asn815Ile) single nucleotide variant Cardiovascular phenotype [RCV003181486] Chr17:80117712 [GRCh38]
Chr17:78091511 [GRCh37]
Chr17:17q25.3
uncertain significance
NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del deletion Glycogen storage disease, type II [RCV003226643] Chr17:78091991..78092157 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.40_47del (p.Ala14fs) deletion Glycogen storage disease, type II [RCV003159295] Chr17:80104623..80104630 [GRCh38]
Chr17:78078422..78078429 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2477del (p.Leu826fs) deletion not provided [RCV003143306] Chr17:80117745 [GRCh38]
Chr17:78091544 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1304G>T (p.Gly435Val) single nucleotide variant not provided [RCV003143443] Chr17:80108806 [GRCh38]
Chr17:78082605 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2095C>T (p.Leu699Phe) single nucleotide variant not provided [RCV003143444] Chr17:80113272 [GRCh38]
Chr17:78087071 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2635C>G (p.Leu879Val) single nucleotide variant not provided [RCV003143445] Chr17:80118346 [GRCh38]
Chr17:78092145 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2234T>G (p.Leu745Arg) single nucleotide variant not provided [RCV003143446] Chr17:80117012 [GRCh38]
Chr17:78090811 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2563G>A (p.Gly855Arg) single nucleotide variant not provided [RCV003143449] Chr17:80118274 [GRCh38]
Chr17:78092073 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1571A>C (p.Asn524Thr) single nucleotide variant not provided [RCV003143450] Chr17:80110960 [GRCh38]
Chr17:78084759 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.874T>C (p.Tyr292His) single nucleotide variant not provided [RCV003143451] Chr17:80107815 [GRCh38]
Chr17:78081614 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.158A>G (p.His53Arg) single nucleotide variant not provided [RCV003143452] Chr17:80104744 [GRCh38]
Chr17:78078543 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2848A>T (p.Ser950Cys) single nucleotide variant not provided [RCV003143453] Chr17:80119320 [GRCh38]
Chr17:78093119 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1244C>T (p.Thr415Met) single nucleotide variant not provided [RCV003135289] Chr17:80108746 [GRCh38]
Chr17:78082545 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.257C>A (p.Pro86His) single nucleotide variant not provided [RCV003135290] Chr17:80104843 [GRCh38]
Chr17:78078642 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2093C>A (p.Ala698Asp) single nucleotide variant not provided [RCV003135291] Chr17:80113270 [GRCh38]
Chr17:78087069 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2189+4A>G single nucleotide variant not provided [RCV003135294] Chr17:80113370 [GRCh38]
Chr17:78087169 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1637-40G>A single nucleotide variant not provided [RCV003135295] Chr17:80111943 [GRCh38]
Chr17:78085742 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1643T>G (p.Val548Gly) single nucleotide variant not provided [RCV003135296] Chr17:80111989 [GRCh38]
Chr17:78085788 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.829A>G (p.Thr277Ala) single nucleotide variant not provided [RCV003142544] Chr17:80107693 [GRCh38]
Chr17:78081492 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2557G>C (p.Ala853Pro) single nucleotide variant not provided [RCV003142545] Chr17:80118268 [GRCh38]
Chr17:78092067 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2200G>A (p.Asp734Asn) single nucleotide variant not provided [RCV003142546] Chr17:80116978 [GRCh38]
Chr17:78090777 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs) deletion Glycogen storage disease, type II [RCV003226644] Chr17:80113243..80113246 [GRCh38]
Chr17:78087042..78087045 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr) single nucleotide variant Glycogen storage disease, type II [RCV003229549] Chr17:80112019 [GRCh38]
Chr17:78085818 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2122del (p.His708fs) deletion Glycogen storage disease, type II [RCV003323314] Chr17:80113295 [GRCh38]
Chr17:78087094 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic
NM_000152.5(GAA):c.710C>A (p.Ala237Glu) single nucleotide variant not provided [RCV003481490]|not specified [RCV003324307] Chr17:80107574 [GRCh38]
Chr17:78081373 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1347_1350del (p.Gly450fs) deletion not provided [RCV003324951] Chr17:80109964..80109967 [GRCh38]
Chr17:78083763..78083766 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2772del (p.Asn925fs) deletion Glycogen storage disease, type II [RCV003324101] Chr17:80118777 [GRCh38]
Chr17:78092576 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1252A>G (p.Lys418Glu) single nucleotide variant not provided [RCV003327759] Chr17:80108754 [GRCh38]
Chr17:78082553 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1845G>A (p.Gly615=) single nucleotide variant not provided [RCV003326977] Chr17:80112668 [GRCh38]
Chr17:78086467 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2455C>A (p.Arg819=) single nucleotide variant not provided [RCV003326978] Chr17:80117723 [GRCh38]
Chr17:78091522 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln) single nucleotide variant Glycogen storage disease, type II [RCV003337919] Chr17:80118708 [GRCh38]
Chr17:78092507 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2609G>C (p.Arg870Pro) single nucleotide variant Cardiovascular phenotype [RCV003380117] Chr17:80118320 [GRCh38]
Chr17:78092119 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.81G>A (p.Leu27=) single nucleotide variant Cardiovascular phenotype [RCV003380119] Chr17:80104667 [GRCh38]
Chr17:78078466 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1191C>T (p.Pro397=) single nucleotide variant Cardiovascular phenotype [RCV003380118] Chr17:80108604 [GRCh38]
Chr17:78082403 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.144C>A (p.Val48=) single nucleotide variant Cardiovascular phenotype [RCV003377169] Chr17:80104730 [GRCh38]
Chr17:78078529 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro) single nucleotide variant Glycogen storage disease, type II [RCV003468228] Chr17:80112067 [GRCh38]
Chr17:78085866 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer) indel Glycogen storage disease, type II [RCV003468232] Chr17:80118661..80118662 [GRCh38]
Chr17:78092460..78092461 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1494del (p.Trp498fs) deletion Glycogen storage disease, type II [RCV003468236] Chr17:80110782 [GRCh38]
Chr17:78084581 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1396dup (p.Val466fs) duplication Glycogen storage disease, type II [RCV003468237] Chr17:80110008..80110009 [GRCh38]
Chr17:78083807..78083808 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1407del (p.Asn470fs) deletion Glycogen storage disease, type II [RCV003461604] Chr17:80110024 [GRCh38]
Chr17:78083823 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.873_874del (p.Tyr292fs) microsatellite Glycogen storage disease, type II [RCV003461606] Chr17:80107812..80107813 [GRCh38]
Chr17:78081611..78081612 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer) deletion Glycogen storage disease, type II [RCV003461613] Chr17:80105073..80105107 [GRCh38]
Chr17:78078872..78078906 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.84dup (p.His29fs) duplication Glycogen storage disease, type II [RCV003461621] Chr17:80104666..80104667 [GRCh38]
Chr17:78078465..78078466 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1075+1G>T single nucleotide variant Glycogen storage disease, type II [RCV003461602] Chr17:80108410 [GRCh38]
Chr17:78082209 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.396dup (p.Tyr133fs) duplication Glycogen storage disease, type II [RCV003461601] Chr17:80104981..80104982 [GRCh38]
Chr17:78078780..78078781 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu) single nucleotide variant Glycogen storage disease, type II [RCV003461599] Chr17:80113002 [GRCh38]
Chr17:78086801 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1798del (p.Arg600fs) deletion Glycogen storage disease, type II [RCV003461598] Chr17:80112619 [GRCh38]
Chr17:78086418 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2799+2C>G single nucleotide variant Glycogen storage disease, type II [RCV003461595] Chr17:80118807 [GRCh38]
Chr17:78092606 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1194+15T>C single nucleotide variant Glycogen storage disease, type II [RCV003503241] Chr17:80108622 [GRCh38]
Chr17:78082421 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2332-7C>A single nucleotide variant Glycogen storage disease, type II [RCV003503253] Chr17:80117593 [GRCh38]
Chr17:78091392 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.504G>T (p.Arg168=) single nucleotide variant Glycogen storage disease, type II [RCV003503276] Chr17:80105090 [GRCh38]
Chr17:78078889 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2672del (p.Arg891fs) deletion Glycogen storage disease, type II [RCV003461609] Chr17:80118678 [GRCh38]
Chr17:78092477 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter) single nucleotide variant Glycogen storage disease, type II [RCV003461617] Chr17:80108707 [GRCh38]
Chr17:78082506 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.389del (p.Pro130fs) deletion Glycogen storage disease, type II [RCV003461600] Chr17:80104973 [GRCh38]
Chr17:78078772 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro) single nucleotide variant Glycogen storage disease, type II [RCV003461594] Chr17:80110745 [GRCh38]
Chr17:78084544 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg) single nucleotide variant Glycogen storage disease, type II [RCV003503687] Chr17:80117105 [GRCh38]
Chr17:78090904 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.693-11C>G single nucleotide variant Glycogen storage disease, type II [RCV003873573] Chr17:80107546 [GRCh38]
Chr17:78081345 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly) single nucleotide variant Glycogen storage disease, type II [RCV003503791] Chr17:80112645 [GRCh38]
Chr17:78086444 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2859G>A (p.Ter953=) single nucleotide variant Glycogen storage disease, type II [RCV003503325] Chr17:80119331 [GRCh38]
Chr17:78093130 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.859-1G>C single nucleotide variant Glycogen storage disease, type II [RCV003503334] Chr17:80107799 [GRCh38]
Chr17:78081598 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1195-7del deletion Glycogen storage disease, type II [RCV003503348] Chr17:80108689 [GRCh38]
Chr17:78082488 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1561del (p.Glu521fs) deletion Glycogen storage disease, type II [RCV003503381] Chr17:80110950 [GRCh38]
Chr17:78084749 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2481+10C>A single nucleotide variant Glycogen storage disease, type II [RCV003503322] Chr17:80117759 [GRCh38]
Chr17:78091558 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1889-18C>G single nucleotide variant Glycogen storage disease, type II [RCV003503358] Chr17:80112858 [GRCh38]
Chr17:78086657 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys) single nucleotide variant Glycogen storage disease, type II [RCV003503952] Chr17:80112929 [GRCh38]
Chr17:78086728 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.955+9C>T single nucleotide variant Glycogen storage disease, type II [RCV003504034] Chr17:80107905 [GRCh38]
Chr17:78081704 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2041-20T>C single nucleotide variant Glycogen storage disease, type II [RCV003503309] Chr17:80113198 [GRCh38]
Chr17:78086997 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn) single nucleotide variant Glycogen storage disease, type II [RCV003503349] Chr17:80108545 [GRCh38]
Chr17:78082344 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys) single nucleotide variant Glycogen storage disease, type II [RCV003875032] Chr17:80116982 [GRCh38]
Chr17:78090781 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1075+7C>T single nucleotide variant Glycogen storage disease, type II [RCV003503391] Chr17:80108416 [GRCh38]
Chr17:78082215 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-9G>C single nucleotide variant Glycogen storage disease, type II [RCV003503450] Chr17:80110718 [GRCh38]
Chr17:78084517 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1902T>C (p.Phe634=) single nucleotide variant Glycogen storage disease, type II [RCV003503452] Chr17:80112889 [GRCh38]
Chr17:78086688 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.956-13G>T single nucleotide variant Glycogen storage disease, type II [RCV003503723] Chr17:80108277 [GRCh38]
Chr17:78082076 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2647-14T>A single nucleotide variant Glycogen storage disease, type II [RCV003503752] Chr17:80118639 [GRCh38]
Chr17:78092438 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.822C>T (p.Thr274=) single nucleotide variant Glycogen storage disease, type II [RCV003504164] Chr17:80107686 [GRCh38]
Chr17:78081485 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2647-25_2647-18del deletion Glycogen storage disease, type II [RCV003503481] Chr17:80118626..80118633 [GRCh38]
Chr17:78092425..78092432 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2723del (p.Gly908fs) deletion Glycogen storage disease, type II [RCV003461607] Chr17:80118727 [GRCh38]
Chr17:78092526 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.678G>T (p.Leu226=) single nucleotide variant Glycogen storage disease, type II [RCV003503535] Chr17:80105880 [GRCh38]
Chr17:78079679 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2482-1G>T single nucleotide variant Glycogen storage disease, type II [RCV003503564] Chr17:80118192 [GRCh38]
Chr17:78091991 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2189+2T>A single nucleotide variant Glycogen storage disease, type II [RCV003461610] Chr17:80113368 [GRCh38]
Chr17:78087167 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1117del (p.Leu373fs) deletion Glycogen storage disease, type II [RCV003461596] Chr17:80108529 [GRCh38]
Chr17:78082328 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1195-4G>A single nucleotide variant Glycogen storage disease, type II [RCV003503642] Chr17:80108693 [GRCh38]
Chr17:78082492 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.742C>T (p.Leu248=) single nucleotide variant Glycogen storage disease, type II [RCV003503735] Chr17:80107606 [GRCh38]
Chr17:78081405 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.546+10G>A single nucleotide variant Glycogen storage disease, type II [RCV003503779] Chr17:80105142 [GRCh38]
Chr17:78078941 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter) single nucleotide variant Glycogen storage disease, type II [RCV003503962] Chr17:80113286 [GRCh38]
Chr17:78087085 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.499C>T (p.Leu167=) single nucleotide variant Glycogen storage disease, type II [RCV003504053] Chr17:80105085 [GRCh38]
Chr17:78078884 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.955+12_955+18del deletion Glycogen storage disease, type II [RCV003504054] Chr17:80107904..80107910 [GRCh38]
Chr17:78081703..78081709 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1438-12C>G single nucleotide variant Glycogen storage disease, type II [RCV003504144] Chr17:80110715 [GRCh38]
Chr17:78084514 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+4A>G single nucleotide variant Glycogen storage disease, type II [RCV003468238] Chr17:80117113 [GRCh38]
Chr17:78090912 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer) deletion Glycogen storage disease, type II [RCV003503782] Chr17:80109983 [GRCh38]
Chr17:78083782 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1636+7del deletion Glycogen storage disease, type II [RCV003503880] Chr17:80111032 [GRCh38]
Chr17:78084831 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1075+15C>T single nucleotide variant Glycogen storage disease, type II [RCV003503902] Chr17:80108424 [GRCh38]
Chr17:78082223 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.925G>T (p.Gly309Trp) single nucleotide variant Glycogen storage disease, type II [RCV003504363] Chr17:80107866 [GRCh38]
Chr17:78081665 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1889-4C>T single nucleotide variant Glycogen storage disease, type II [RCV003504422] Chr17:80112872 [GRCh38]
Chr17:78086671 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.318C>A (p.Arg106=) single nucleotide variant Glycogen storage disease, type II [RCV003875119] Chr17:80104904 [GRCh38]
Chr17:78078703 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1437+20G>T single nucleotide variant Glycogen storage disease, type II [RCV003503955] Chr17:80110075 [GRCh38]
Chr17:78083874 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2482-17T>C single nucleotide variant Glycogen storage disease, type II [RCV003503859] Chr17:80118176 [GRCh38]
Chr17:78091975 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter) microsatellite Glycogen storage disease, type II [RCV003503978] Chr17:80118677..80118678 [GRCh38]
Chr17:78092476..78092477 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2235G>T (p.Leu745=) single nucleotide variant Glycogen storage disease, type II [RCV003503986] Chr17:80117013 [GRCh38]
Chr17:78090812 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.741G>A (p.Gln247=) single nucleotide variant Glycogen storage disease, type II [RCV003504026] Chr17:80107605 [GRCh38]
Chr17:78081404 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.693-14C>T single nucleotide variant Glycogen storage disease, type II [RCV003504115] Chr17:80107543 [GRCh38]
Chr17:78081342 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.955+11C>G single nucleotide variant Glycogen storage disease, type II [RCV003504045] Chr17:80107907 [GRCh38]
Chr17:78081706 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+20G>T single nucleotide variant Glycogen storage disease, type II [RCV003504098] Chr17:80117129 [GRCh38]
Chr17:78090928 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.693-6C>G single nucleotide variant Glycogen storage disease, type II [RCV003504113] Chr17:80107551 [GRCh38]
Chr17:78081350 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2304C>G (p.Pro768=) single nucleotide variant Glycogen storage disease, type II [RCV003873900] Chr17:80117082 [GRCh38]
Chr17:78090881 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.723T>C (p.Phe241=) single nucleotide variant Glycogen storage disease, type II [RCV003504240] Chr17:80107587 [GRCh38]
Chr17:78081386 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2799+17T>C single nucleotide variant Glycogen storage disease, type II [RCV003504248] Chr17:80118822 [GRCh38]
Chr17:78092621 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2190-7C>G single nucleotide variant Glycogen storage disease, type II [RCV003504204] Chr17:80116961 [GRCh38]
Chr17:78090760 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly) single nucleotide variant Glycogen storage disease, type II [RCV003504345] Chr17:80113001 [GRCh38]
Chr17:78086800 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg) single nucleotide variant Glycogen storage disease, type II [RCV003504314] Chr17:80108409 [GRCh38]
Chr17:78082208 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.156_157del (p.His53fs) deletion Glycogen storage disease, type II [RCV003874797] Chr17:80104741..80104742 [GRCh38]
Chr17:78078540..78078541 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1552-10del deletion Glycogen storage disease, type II [RCV003502843] Chr17:80110930 [GRCh38]
Chr17:78084729 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1888+15G>A single nucleotide variant Glycogen storage disease, type II [RCV003502854] Chr17:80112726 [GRCh38]
Chr17:78086525 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.889_890insG (p.Phe297fs) insertion Glycogen storage disease, type II [RCV003503000] Chr17:80107830..80107831 [GRCh38]
Chr17:78081629..78081630 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.656G>A (p.Gly219Glu) single nucleotide variant Glycogen storage disease, type II [RCV003502887] Chr17:80105858 [GRCh38]
Chr17:78079657 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser) single nucleotide variant Glycogen storage disease, type II [RCV003502895] Chr17:80113308 [GRCh38]
Chr17:78087107 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1635T>A (p.Pro545=) single nucleotide variant Glycogen storage disease, type II [RCV003503072] Chr17:80111024 [GRCh38]
Chr17:78084823 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.742del (p.Leu248fs) deletion not provided [RCV003480450] Chr17:80107606 [GRCh38]
Chr17:78081405 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.381C>T (p.Cys127=) single nucleotide variant Glycogen storage disease, type II [RCV003875756] Chr17:80104967 [GRCh38]
Chr17:78078766 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1551+10G>A single nucleotide variant Glycogen storage disease, type II [RCV003502759] Chr17:80110850 [GRCh38]
Chr17:78084649 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1306C>A (p.Arg436=) single nucleotide variant Glycogen storage disease, type II [RCV003502745] Chr17:80108808 [GRCh38]
Chr17:78082607 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1437+16_1437+22dup duplication Glycogen storage disease, type II [RCV003503017] Chr17:80110069..80110070 [GRCh38]
Chr17:78083868..78083869 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del) deletion Glycogen storage disease, type II [RCV003503071] Chr17:80111997..80112002 [GRCh38]
Chr17:78085796..78085801 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser) single nucleotide variant Glycogen storage disease, type II [RCV003502928] Chr17:80108536 [GRCh38]
Chr17:78082335 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.546+7_546+12del deletion Glycogen storage disease, type II [RCV003502933] Chr17:80105139..80105144 [GRCh38]
Chr17:78078938..78078943 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2799+18G>T single nucleotide variant Glycogen storage disease, type II [RCV003502992] Chr17:80118823 [GRCh38]
Chr17:78092622 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.266G>T (p.Arg89Leu) single nucleotide variant Glycogen storage disease, type II [RCV003503047] Chr17:80104852 [GRCh38]
Chr17:78078651 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.693-9G>C single nucleotide variant Glycogen storage disease, type II [RCV003503335] Chr17:80107548 [GRCh38]
Chr17:78081347 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2442C>T (p.Ile814=) single nucleotide variant Glycogen storage disease, type II [RCV003503458] Chr17:80117710 [GRCh38]
Chr17:78091509 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter) single nucleotide variant Glycogen storage disease, type II [RCV003503488] Chr17:80118265 [GRCh38]
Chr17:78092064 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.955+13C>T single nucleotide variant Glycogen storage disease, type II [RCV003502891] Chr17:80107909 [GRCh38]
Chr17:78081708 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1782C>A (p.Arg594=) single nucleotide variant Glycogen storage disease, type II [RCV003502908] Chr17:80112605 [GRCh38]
Chr17:78086404 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly) single nucleotide variant Glycogen storage disease, type II [RCV003502923] Chr17:80112678 [GRCh38]
Chr17:78086477 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1888+10T>C single nucleotide variant Glycogen storage disease, type II [RCV003502944] Chr17:80112721 [GRCh38]
Chr17:78086520 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2799+15A>C single nucleotide variant Glycogen storage disease, type II [RCV003503037] Chr17:80118820 [GRCh38]
Chr17:78092619 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg) single nucleotide variant Glycogen storage disease, type II [RCV003503510] Chr17:80112678 [GRCh38]
Chr17:78086477 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.988_998del (p.Trp330fs) deletion Glycogen storage disease, type II [RCV003503621] Chr17:80108321..80108331 [GRCh38]
Chr17:78082120..78082130 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1754+12G>T single nucleotide variant Glycogen storage disease, type II [RCV003502968] Chr17:80112112 [GRCh38]
Chr17:78085911 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser) single nucleotide variant Glycogen storage disease, type II [RCV003502980] Chr17:80110745 [GRCh38]
Chr17:78084544 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2115C>G (p.Leu705=) single nucleotide variant Glycogen storage disease, type II [RCV003503913] Chr17:80113292 [GRCh38]
Chr17:78087091 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-10C>T single nucleotide variant Glycogen storage disease, type II [RCV003503973] Chr17:80109935 [GRCh38]
Chr17:78083734 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.547-15C>T single nucleotide variant Glycogen storage disease, type II [RCV003503847] Chr17:80105734 [GRCh38]
Chr17:78079533 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2331+17del deletion Glycogen storage disease, type II [RCV003503107] Chr17:80117126 [GRCh38]
Chr17:78090925 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2320dup (p.Asp774fs) duplication Glycogen storage disease, type II [RCV003503108] Chr17:80117097..80117098 [GRCh38]
Chr17:78090896..78090897 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.1195-19T>C single nucleotide variant Glycogen storage disease, type II [RCV003503117] Chr17:80108678 [GRCh38]
Chr17:78082477 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs) deletion Glycogen storage disease, type II [RCV003503120] Chr17:80109973..80109982 [GRCh38]
Chr17:78083772..78083781 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.2439C>A (p.Thr813=) single nucleotide variant Glycogen storage disease, type II [RCV003503386] Chr17:80117707 [GRCh38]
Chr17:78091506 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1327-18A>C single nucleotide variant Glycogen storage disease, type II [RCV003503404] Chr17:80109927 [GRCh38]
Chr17:78083726 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2800-11C>T single nucleotide variant Glycogen storage disease, type II [RCV003503429] Chr17:80119261 [GRCh38]
Chr17:78093060 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2040+9G>C single nucleotide variant Glycogen storage disease, type II [RCV003503527] Chr17:80113036 [GRCh38]
Chr17:78086835 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2647-12dup duplication Glycogen storage disease, type II [RCV003503590] Chr17:80118640..80118641 [GRCh38]
Chr17:78092439..78092440 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1076-15G>T single nucleotide variant Glycogen storage disease, type II [RCV003502770] Chr17:80108474 [GRCh38]
Chr17:78082273 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2544C>G (p.Thr848=) single nucleotide variant Glycogen storage disease, type II [RCV003502824] Chr17:80118255 [GRCh38]
Chr17:78092054 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1724A>T (p.Tyr575Phe) single nucleotide variant not specified [RCV003479754] Chr17:80112070 [GRCh38]
Chr17:78085869 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_000152.5(GAA):c.1924G>T (p.Val642Phe) single nucleotide variant Glycogen storage disease, type II [RCV003461603] Chr17:80112911 [GRCh38]
Chr17:78086710 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1075+2T>C single nucleotide variant Glycogen storage disease, type II [RCV003461608] Chr17:80108411 [GRCh38]
Chr17:78082210 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg) single nucleotide variant Glycogen storage disease, type II [RCV003468225] Chr17:80117081 [GRCh38]
Chr17:78090880 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1636+1G>A single nucleotide variant Glycogen storage disease, type II [RCV003468235] Chr17:80111026 [GRCh38]
Chr17:78084825 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2331+1G>C single nucleotide variant Glycogen storage disease, type II [RCV003461605] Chr17:80117110 [GRCh38]
Chr17:78090909 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2476del (p.Leu826fs) deletion Glycogen storage disease, type II [RCV003461612] Chr17:80117740 [GRCh38]
Chr17:78091539 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.858+1G>A single nucleotide variant Glycogen storage disease, type II [RCV003461614] Chr17:80107723 [GRCh38]
Chr17:78081522 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2122dup (p.His708fs) duplication Glycogen storage disease, type II [RCV003461618] Chr17:80113294..80113295 [GRCh38]
Chr17:78087093..78087094 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.133del (p.Ser45fs) deletion Glycogen storage disease, type II [RCV003461619] Chr17:80104719 [GRCh38]
Chr17:78078518 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2331+1G>A single nucleotide variant Glycogen storage disease, type II [RCV003461620] Chr17:80117110 [GRCh38]
Chr17:78090909 [GRCh37]
Chr17:17q25.3
pathogenic
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr) single nucleotide variant Glycogen storage disease, type II [RCV003468226] Chr17:80104909 [GRCh38]
Chr17:78078708 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly) single nucleotide variant Glycogen storage disease, type II [RCV003391170] Chr17:80110755 [GRCh38]
Chr17:78084554 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2701del (p.Leu901fs) deletion Glycogen storage disease, type II [RCV003461611] Chr17:80118707 [GRCh38]
Chr17:78092506 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.371_381del (p.Gln124fs) deletion Glycogen storage disease, type II [RCV003461615] Chr17:80104955..80104965 [GRCh38]
Chr17:78078754..78078764 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.465dup (p.Thr156fs) duplication Glycogen storage disease, type II [RCV003461616] Chr17:80105049..80105050 [GRCh38]
Chr17:78078848..78078849 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu) single nucleotide variant Glycogen storage disease, type II [RCV003468227] Chr17:80112622 [GRCh38]
Chr17:78086421 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2332-1G>A single nucleotide variant Glycogen storage disease, type II [RCV003468229] Chr17:80117599 [GRCh38]
Chr17:78091398 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1438-1G>A single nucleotide variant Glycogen storage disease, type II [RCV003468230] Chr17:80110726 [GRCh38]
Chr17:78084525 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs) duplication Glycogen storage disease, type II [RCV003468231] Chr17:80112989..80112990 [GRCh38]
Chr17:78086788..78086789 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.1194+2T>G single nucleotide variant Glycogen storage disease, type II [RCV003468233] Chr17:80108609 [GRCh38]
Chr17:78082408 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs) insertion Glycogen storage disease, type II [RCV003468234] Chr17:80118355..80118356 [GRCh38]
Chr17:78092154..78092155 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_000152.5(GAA):c.693-20G>A single nucleotide variant Glycogen storage disease, type II [RCV003876632] Chr17:80107537 [GRCh38]
Chr17:78081336 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.2193C>T (p.Phe731=) single nucleotide variant Glycogen storage disease, type II [RCV003878970] Chr17:80116971 [GRCh38]
Chr17:78090770 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1755-16del deletion Glycogen storage disease, type II [RCV003824550] Chr17:80112562 [GRCh38]
Chr17:78086361 [GRCh37]
Chr17:17q25.3
likely benign
NM_000152.5(GAA):c.1461C>G (p.Phe487Leu) single nucleotide variant not specified [RCV003332028] Chr17:80110750 [GRCh38]
Chr17:78084549 [GRCh37]
Chr17:17q25.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2897
Count of miRNA genes:953
Interacting mature miRNAs:1188
Transcripts:ENST00000302262, ENST00000390015, ENST00000570716, ENST00000570803, ENST00000572080, ENST00000572803, ENST00000573556, ENST00000574376, ENST00000577106
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH92754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,073,599 - 78,073,733UniSTSGRCh37
Build 361775,688,194 - 75,688,328RGDNCBI36
Celera1774,702,400 - 74,702,534RGD
Cytogenetic Map17q25.2-q25.3UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1773,514,696 - 73,514,830UniSTS
RH98689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,074,143 - 78,074,304UniSTSGRCh37
Build 361775,688,738 - 75,688,899RGDNCBI36
Celera1774,702,944 - 74,703,105RGD
Cytogenetic Map17q25.2-q25.3UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1773,515,240 - 73,515,401UniSTS
GeneMap99-GB4 RH Map17521.27UniSTS
RH79901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,093,177 - 78,093,381UniSTSGRCh37
Build 361775,707,772 - 75,707,976RGDNCBI36
Celera1774,721,985 - 74,722,189RGD
Cytogenetic Map17q25.2-q25.3UniSTS
HuRef1773,534,331 - 73,534,535UniSTS
GDB:178578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,093,325 - 78,093,610UniSTSGRCh37
Build 361775,707,920 - 75,708,205RGDNCBI36
Celera1774,722,133 - 74,722,418RGD
Cytogenetic Map17q25.2-q25.3UniSTS
HuRef1773,534,479 - 73,534,764UniSTS
G07071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,093,223 - 78,093,346UniSTSGRCh37
Build 361775,707,818 - 75,707,941RGDNCBI36
Celera1774,722,031 - 74,722,154RGD
Cytogenetic Map17q25.2-q25.3UniSTS
HuRef1773,534,377 - 73,534,500UniSTS
GDB:371877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371778,075,503 - 78,075,707UniSTSGRCh37
Build 361775,690,098 - 75,690,302RGDNCBI36
Celera1774,704,304 - 74,704,508RGD
Cytogenetic Map17q25.2-q25.3UniSTS
HuRef1773,516,600 - 73,516,804UniSTS
GDB:180941  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25.2-q25.3UniSTS
HuRef1773,534,292 - 73,534,800UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2418 2831 1711 616 1613 458 4347 2096 3316 410 1449 1603 172 1 1203 2781 6 2
Low 21 160 15 8 335 7 10 101 418 9 11 10 3 1 7
Below cutoff 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW515241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF206270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF344248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ711289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU630327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC392486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ907243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY015584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY047261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY101855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP117444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP117445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP117446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP117447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000302262   ⟹   ENSP00000305692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,101,581 - 80,119,881 (+)Ensembl
RefSeq Acc Id: ENST00000390015   ⟹   ENSP00000374665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,101,594 - 80,119,877 (+)Ensembl
RefSeq Acc Id: ENST00000570716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,112,384 - 80,113,271 (+)Ensembl
RefSeq Acc Id: ENST00000570803   ⟹   ENSP00000460543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,101,533 - 80,119,869 (+)Ensembl
RefSeq Acc Id: ENST00000572080   ⟹   ENSP00000459972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,101,583 - 80,119,880 (+)Ensembl
RefSeq Acc Id: ENST00000572803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,111,733 - 80,112,948 (+)Ensembl
RefSeq Acc Id: ENST00000573556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,116,826 - 80,119,275 (+)Ensembl
RefSeq Acc Id: ENST00000574376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,101,597 - 80,102,733 (+)Ensembl
RefSeq Acc Id: ENST00000577106   ⟹   ENSP00000458306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1780,101,576 - 80,119,869 (+)Ensembl
RefSeq Acc Id: NM_000152   ⟹   NP_000143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,101,581 - 80,119,881 (+)NCBI
GRCh371778,075,339 - 78,093,680 (+)NCBI
Build 361775,689,950 - 75,708,274 (+)NCBI Archive
HuRef1773,516,452 - 73,534,833 (+)ENTREZGENE
CHM1_11778,161,652 - 78,180,008 (+)NCBI
T2T-CHM13v2.01781,002,020 - 81,020,360 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001079803   ⟹   NP_001073271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,101,581 - 80,119,881 (+)NCBI
GRCh371778,075,339 - 78,093,680 (+)NCBI
Build 361775,689,950 - 75,708,274 (+)NCBI Archive
HuRef1773,516,452 - 73,534,833 (+)ENTREZGENE
CHM1_11778,161,652 - 78,180,008 (+)NCBI
T2T-CHM13v2.01781,002,020 - 81,020,360 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001079804   ⟹   NP_001073272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,101,581 - 80,119,881 (+)NCBI
GRCh371778,075,339 - 78,093,680 (+)NCBI
Build 361775,689,950 - 75,708,274 (+)NCBI Archive
HuRef1773,516,452 - 73,534,833 (+)ENTREZGENE
CHM1_11778,161,652 - 78,180,008 (+)NCBI
T2T-CHM13v2.01781,002,020 - 81,020,360 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001406741   ⟹   NP_001393670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,101,581 - 80,119,881 (+)NCBI
T2T-CHM13v2.01781,002,020 - 81,020,360 (+)NCBI
RefSeq Acc Id: NM_001406742   ⟹   NP_001393671
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,101,581 - 80,119,881 (+)NCBI
T2T-CHM13v2.01781,002,020 - 81,020,360 (+)NCBI
RefSeq Acc Id: NR_134848
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,101,581 - 80,102,733 (+)NCBI
CHM1_11778,161,652 - 78,162,863 (+)NCBI
T2T-CHM13v2.01781,002,020 - 81,003,172 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435719   ⟹   XP_047291675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,101,581 - 80,119,881 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000143 (Get FASTA)   NCBI Sequence Viewer  
  NP_001073271 (Get FASTA)   NCBI Sequence Viewer  
  NP_001073272 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393670 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393671 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291675 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189174 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52506 (Get FASTA)   NCBI Sequence Viewer  
  AAB33842 (Get FASTA)   NCBI Sequence Viewer  
  AAH40431 (Get FASTA)   NCBI Sequence Viewer  
  ABI53718 (Get FASTA)   NCBI Sequence Viewer  
  BAH13042 (Get FASTA)   NCBI Sequence Viewer  
  CAA68763 (Get FASTA)   NCBI Sequence Viewer  
  CAA68764 (Get FASTA)   NCBI Sequence Viewer  
  CAC12967 (Get FASTA)   NCBI Sequence Viewer  
  EAW89581 (Get FASTA)   NCBI Sequence Viewer  
  EAW89582 (Get FASTA)   NCBI Sequence Viewer  
  EAW89583 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000305692
  ENSP00000305692.3
  ENSP00000374665
  ENSP00000374665.3
  ENSP00000458306
  ENSP00000458306.1
  ENSP00000458306.2
  ENSP00000459972.2
  ENSP00000460543
  ENSP00000460543.1
  ENSP00000460543.2
  ENSP00000516980.1
  ENSP00000516982.1
GenBank Protein P10253 (Get FASTA)   NCBI Sequence Viewer  
  UYI29222 (Get FASTA)   NCBI Sequence Viewer  
  UYI29223 (Get FASTA)   NCBI Sequence Viewer  
  UYI29224 (Get FASTA)   NCBI Sequence Viewer  
  UYI29225 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000143   ⟸   NM_000152
- Peptide Label: preproprotein
- UniProtKB: Q16302 (UniProtKB/Swiss-Prot),   Q14351 (UniProtKB/Swiss-Prot),   Q09GN4 (UniProtKB/Swiss-Prot),   Q8IWE7 (UniProtKB/Swiss-Prot),   P10253 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001073271   ⟸   NM_001079803
- Peptide Label: preproprotein
- UniProtKB: Q16302 (UniProtKB/Swiss-Prot),   Q14351 (UniProtKB/Swiss-Prot),   Q09GN4 (UniProtKB/Swiss-Prot),   Q8IWE7 (UniProtKB/Swiss-Prot),   P10253 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001073272   ⟸   NM_001079804
- Peptide Label: preproprotein
- UniProtKB: Q16302 (UniProtKB/Swiss-Prot),   Q14351 (UniProtKB/Swiss-Prot),   Q09GN4 (UniProtKB/Swiss-Prot),   Q8IWE7 (UniProtKB/Swiss-Prot),   P10253 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000460543   ⟸   ENST00000570803
RefSeq Acc Id: ENSP00000459972   ⟸   ENST00000572080
RefSeq Acc Id: ENSP00000374665   ⟸   ENST00000390015
RefSeq Acc Id: ENSP00000458306   ⟸   ENST00000577106
RefSeq Acc Id: ENSP00000305692   ⟸   ENST00000302262
RefSeq Acc Id: XP_047291675   ⟸   XM_047435719
- Peptide Label: isoform X1
- UniProtKB: Q16302 (UniProtKB/Swiss-Prot),   Q14351 (UniProtKB/Swiss-Prot),   Q09GN4 (UniProtKB/Swiss-Prot),   P10253 (UniProtKB/Swiss-Prot),   Q8IWE7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001393670   ⟸   NM_001406741
- Peptide Label: preproprotein
- UniProtKB: Q16302 (UniProtKB/Swiss-Prot),   Q14351 (UniProtKB/Swiss-Prot),   Q09GN4 (UniProtKB/Swiss-Prot),   P10253 (UniProtKB/Swiss-Prot),   Q8IWE7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001393671   ⟸   NM_001406742
- Peptide Label: preproprotein
- UniProtKB: Q16302 (UniProtKB/Swiss-Prot),   Q14351 (UniProtKB/Swiss-Prot),   Q09GN4 (UniProtKB/Swiss-Prot),   P10253 (UniProtKB/Swiss-Prot),   Q8IWE7 (UniProtKB/Swiss-Prot)
Protein Domains
P-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10253-F1-model_v2 AlphaFold P10253 1-952 view protein structure

Promoters
RGD ID:6794167
Promoter ID:HG_KWN:27313
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000152,   NM_001079803,   NM_001079804
Position:
Human AssemblyChrPosition (strand)Source
Build 361775,689,686 - 75,690,186 (+)MPROMDB
RGD ID:7236559
Promoter ID:EPDNEW_H24024
Type:initiation region
Name:GAA_1
Description:glucosidase alpha, acid
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381780,101,581 - 80,101,641EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4065 AgrOrtholog
COSMIC GAA COSMIC
Ensembl Genes ENSG00000171298 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291507 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302262 ENTREZGENE
  ENST00000302262.8 UniProtKB/Swiss-Prot
  ENST00000390015 ENTREZGENE
  ENST00000390015.7 UniProtKB/Swiss-Prot
  ENST00000570803 ENTREZGENE
  ENST00000570803.5 UniProtKB/TrEMBL
  ENST00000570803.6 UniProtKB/Swiss-Prot
  ENST00000572080.2 UniProtKB/TrEMBL
  ENST00000574376 ENTREZGENE
  ENST00000577106 ENTREZGENE
  ENST00000577106.5 UniProtKB/TrEMBL
  ENST00000577106.6 UniProtKB/Swiss-Prot
  ENST00000707779.1 UniProtKB/Swiss-Prot
  ENST00000707781.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.1180 UniProtKB/Swiss-Prot
  4.10.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycosidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  glycosyl hydrolase (family 31) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171298 GTEx
  ENSG00000291507 GTEx
HGNC ID HGNC:4065 ENTREZGENE
Human Proteome Map GAA Human Proteome Map
InterPro Gal_mutarotase_sf_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31_AS UniProtKB/Swiss-Prot
  Glyco_hydro_31_C UniProtKB/Swiss-Prot
  Glyco_hydro_31_CS UniProtKB/Swiss-Prot
  Glyco_hydro_31_N_dom UniProtKB/Swiss-Prot
  Glyco_hydro_b UniProtKB/Swiss-Prot
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_trefoil_chordata UniProtKB/TrEMBL
  P_trefoil_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_trefoil_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_trefoil_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2548 UniProtKB/Swiss-Prot
NCBI Gene 2548 ENTREZGENE
OMIM 606800 OMIM
PANTHER ALPHA-GLUCOSIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTESTINAL TREFOIL FACTOR-RELATED UniProtKB/TrEMBL
  LYSOSOMAL ALPHA-GLUCOSIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-TYPE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam Gal_mutarotas_2 UniProtKB/Swiss-Prot
  Glyco_hydro_31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31_3rd UniProtKB/Swiss-Prot
  Trefoil UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28476 PharmGKB
PROSITE GLYCOSYL_HYDROL_F31_1 UniProtKB/Swiss-Prot
  GLYCOSYL_HYDROL_F31_2 UniProtKB/Swiss-Prot
  P_TREFOIL_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_TREFOIL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00018 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glycosyl hydrolase domain UniProtKB/Swiss-Prot
  SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57492 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF74650 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt I3L0S5_HUMAN UniProtKB/TrEMBL
  I3L2V9_HUMAN UniProtKB/TrEMBL
  I3L3L3_HUMAN UniProtKB/TrEMBL
  LYAG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q09GN4 ENTREZGENE
  Q14351 ENTREZGENE
  Q16302 ENTREZGENE
  Q8IWE7 ENTREZGENE
UniProt Secondary Q09GN4 UniProtKB/Swiss-Prot
  Q14351 UniProtKB/Swiss-Prot
  Q16302 UniProtKB/Swiss-Prot
  Q8IWE7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-11-16 GAA  alpha glucosidase  GAA  glucosidase alpha, acid  Symbol and/or name change 19259463 PROVISIONAL
2016-04-04 GAA  glucosidase alpha, acid  GAA  glucosidase, alpha; acid  Symbol and/or name change 5135510 APPROVED