GYS1 (glycogen synthase 1) - Rat Genome Database

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Gene: GYS1 (glycogen synthase 1) Homo sapiens
Analyze
Symbol: GYS1
Name: glycogen synthase 1
RGD ID: 1320086
HGNC Page HGNC:4706
Description: Enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity and glycogen synthase activity, transferring glucose-1-phosphate. Predicted to be involved in glycogen biosynthetic process. Predicted to act upstream of or within heart development. Located in membrane. Implicated in cardiovascular system disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glycogen [starch] synthase, muscle; glycogen synthase 1 (muscle); GSY; GYS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW89_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381948,968,130 - 48,993,309 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1948,968,125 - 48,993,337 (-)Ensemblhg38GRCh38
GRCh371949,471,387 - 49,496,566 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,163,194 - 54,188,361 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341954,163,194 - 54,188,361NCBI
Celera1946,338,732 - 46,363,941 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,848,297 - 45,873,316 (-)NCBIHuRef
CHM1_11949,473,588 - 49,498,839 (-)NCBICHM1_1
T2T-CHM13v2.01951,963,010 - 51,988,208 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP,ISO)
(-)-alpha-phellandrene  (EXP)
(3,4-dihydroxyphenyl)acetic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-methyladenine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
alpha-pinene  (EXP)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP,ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
C60 fullerene  (ISO)
caffeine  (EXP)
cannabidiol  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
Cuprizon  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
fluoranthene  (ISO)
gallic acid  (EXP)
glucose  (ISO)
glyphosate  (EXP,ISO)
GSK-J4  (EXP)
hexadecanoic acid  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
metformin  (EXP)
microcystin-LR  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (EXP)
Muraglitazar  (ISO)
nickel dichloride  (ISO)
okadaic acid  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
Pf-06840003  (EXP,ISO)
quercetin  (EXP)
resveratrol  (EXP)
SB 415286  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
taurine  (EXP,ISO)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vanillic acid  (EXP)
xanthosine  (ISO)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IEA,TAS)
inclusion body  (IEA)
membrane  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Glycogen synthase: towards a minimum catalytic unit? Cid E, etal., FEBS Lett. 2002 Sep 25;528(1-3):5-11.
2. Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality. Fredriksson J, etal., PLoS One. 2007 Mar 14;2(3):e285.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Glycogen-binding protein components of rat tissues. Satoh K and Sato K, Biochem Biophys Res Commun. 1980 Sep 16;96(1):28-33.
11. A missense mutation of the muscle glycogen synthase gene (M416V) is associated with insulin resistance in the Japanese population. Shimomura H, etal., Diabetologia. 1997 Aug;40(8):947-52.
Additional References at PubMed
PMID:2117608   PMID:2493642   PMID:6772446   PMID:7631777   PMID:7657035   PMID:8062946   PMID:8125298   PMID:8280084   PMID:8449521   PMID:9010351   PMID:9346895   PMID:9628874  
PMID:10481074   PMID:10924520   PMID:11092303   PMID:11147787   PMID:11251056   PMID:11427888   PMID:12411100   PMID:12477932   PMID:12732844   PMID:12870167   PMID:14680475   PMID:15194499  
PMID:15282316   PMID:15342556   PMID:15489334   PMID:15855312   PMID:15955076   PMID:16115820   PMID:16189514   PMID:16275910   PMID:16282323   PMID:17055998   PMID:17137217   PMID:17353931  
PMID:17928598   PMID:18544618   PMID:18996102   PMID:19339242   PMID:19420105   PMID:19578796   PMID:19615732   PMID:19699667   PMID:19773279   PMID:19837931   PMID:19913121   PMID:19946888  
PMID:20017397   PMID:20300197   PMID:20384434   PMID:20562859   PMID:20602615   PMID:20628086   PMID:21145461   PMID:21356517   PMID:21832049   PMID:21873635   PMID:21985244   PMID:22403297  
PMID:22578008   PMID:22952844   PMID:23134486   PMID:23321478   PMID:24049095   PMID:24165324   PMID:24981860   PMID:25071155   PMID:25371328   PMID:25416956   PMID:25487600   PMID:25703587  
PMID:25921289   PMID:26186194   PMID:26638075   PMID:26673895   PMID:27173435   PMID:27342126   PMID:28330616   PMID:28514442   PMID:28596236   PMID:29229926   PMID:29490077   PMID:29911972  
PMID:29955894   PMID:30463901   PMID:30773093   PMID:31091453   PMID:31182584   PMID:31950832   PMID:31980649   PMID:32296183   PMID:32513696   PMID:32521226   PMID:32640226   PMID:32707033  
PMID:32786267   PMID:33219378   PMID:33545068   PMID:33742100   PMID:33961781   PMID:34662580   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35559673   PMID:35793618  
PMID:35831314   PMID:36168627   PMID:36215168   PMID:36950384   PMID:37071682   PMID:37827155   PMID:38697112   PMID:39617063   PMID:40437099  


Genomics

Comparative Map Data
GYS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381948,968,130 - 48,993,309 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1948,968,125 - 48,993,337 (-)Ensemblhg38GRCh38
GRCh371949,471,387 - 49,496,566 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,163,194 - 54,188,361 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341954,163,194 - 54,188,361NCBI
Celera1946,338,732 - 46,363,941 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,848,297 - 45,873,316 (-)NCBIHuRef
CHM1_11949,473,588 - 49,498,839 (-)NCBICHM1_1
T2T-CHM13v2.01951,963,010 - 51,988,208 (-)NCBIT2T-CHM13v2.0
Gys1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Build 34934,358,906 - 34,366,863NCBI
GRCm39745,084,263 - 45,106,041 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl745,084,268 - 45,106,043 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38745,434,839 - 45,456,617 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,434,844 - 45,456,619 (+)Ensemblmm10GRCm38
MGSCv37752,690,209 - 52,711,987 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36745,303,088 - 45,324,142 (+)NCBIMGSCv36mm8
Celera740,890,873 - 40,912,666 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.31NCBI
Gys1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81105,051,916 - 105,071,763 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1105,051,961 - 105,072,419 (+)EnsemblGRCr8
mRatBN7.2195,915,443 - 95,935,292 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,915,443 - 95,935,292 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1101,300,867 - 101,320,722 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,773,545 - 109,793,398 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01103,063,944 - 103,083,795 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01101,427,195 - 101,447,092 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1101,427,195 - 101,447,092 (+)Ensemblrn6Rnor6.0
Rnor_5.01102,506,605 - 102,526,038 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4195,907,458 - 95,928,150 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera190,171,034 - 90,191,204 (+)NCBICelera
Cytogenetic Map1q22NCBI
Gys1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,674,969 - 1,690,098 (+)Ensembl
ChiLan1.0NW_0049555591,674,969 - 1,690,098 (+)NCBIChiLan1.0ChiLan1.0
GYS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,074,039 - 55,099,187 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,000,160 - 57,025,295 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01945,970,127 - 45,995,269 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11954,761,479 - 54,786,726 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1954,761,479 - 54,786,726 (+)EnsemblpanPan2panpan1.1
GYS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,401,056 - 107,417,273 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1107,401,114 - 107,417,122 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1106,923,643 - 106,939,864 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01107,925,696 - 107,941,956 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,925,736 - 107,941,952 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11107,593,280 - 107,609,500 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01107,239,619 - 107,255,846 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01108,075,233 - 108,091,445 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Gys1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,360,345 - 21,376,891 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366642,980,673 - 2,994,855 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366642,978,546 - 2,995,145 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GYS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,233,050 - 54,250,261 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1654,234,600 - 54,250,211 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,078,446 - 50,094,061 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GYS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,200,487 - 42,227,660 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl642,200,455 - 42,227,285 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607322,087,124 - 22,110,822 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gys1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248325,029,057 - 5,045,190 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248325,029,272 - 5,044,679 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Gys1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v12154,054,586 - 154,074,513 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in GYS1
676 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000017435] Chr19:48974658 [GRCh38]
Chr19:49477915 [GRCh37]
Chr19:19q13.33		 pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000116203]|not provided [RCV004589581] Chr19:48991439..48991440 [GRCh38]
Chr19:49494696..49494697 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_002103.5(GYS1):c.492+9C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000314045]|not specified [RCV000177148] Chr19:48987185 [GRCh38]
Chr19:49490442 [GRCh37]
Chr19:19q13.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001303079]|not provided [RCV004793398] Chr19:48969437 [GRCh38]
Chr19:49472694 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001047318]|Inborn genetic diseases [RCV004973287] Chr19:48969380 [GRCh38]
Chr19:49472637 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.201G>A (p.Pro67=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002516686]|not provided [RCV000175712] Chr19:48991401 [GRCh38]
Chr19:49494658 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.679-16del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629123]|not specified [RCV000600099] Chr19:48985621 [GRCh38]
Chr19:49488878 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.-19C>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000286108]|not provided [RCV004717299] Chr19:48993131 [GRCh38]
Chr19:49496388 [GRCh37]
Chr19:19q13.33		 benign|uncertain significance
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000259546]|not provided [RCV004717297]|not specified [RCV000607245] Chr19:48985972 [GRCh38]
Chr19:49489229 [GRCh37]
Chr19:19q13.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.4(GYS1):c.-199T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000279177] Chr19:48993311 [GRCh38]
Chr19:49496568 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.741G>A (p.Ala247=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000299583] Chr19:48985543 [GRCh38]
Chr19:49488800 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.417C>T (p.Ile139=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000274181] Chr19:48987269 [GRCh38]
Chr19:49490526 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.300G>A (p.Lys100=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000272808] Chr19:48991302 [GRCh38]
Chr19:49494559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.942-9G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000397012] Chr19:48982384 [GRCh38]
Chr19:49485641 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.420A>G (p.Gly140=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000371078]|not provided [RCV004717298]|not specified [RCV000417791] Chr19:48987266 [GRCh38]
Chr19:49490523 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.-157C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000284834] Chr19:48993269 [GRCh38]
Chr19:49496526 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.-26C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000324759]|not provided [RCV000841535] Chr19:48993138 [GRCh38]
Chr19:49496395 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.-125C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000376952]|not provided [RCV000835680] Chr19:48993237 [GRCh38]
Chr19:49496494 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000263432] Chr19:48969512 [GRCh38]
Chr19:49472769 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.354C>T (p.Asp118=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000331554]|not provided [RCV001706537] Chr19:48987332 [GRCh38]
Chr19:49490589 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.300+8G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000383601]|not provided [RCV001532388]|not specified [RCV000421215] Chr19:48991294 [GRCh38]
Chr19:49494551 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000384563]|not provided [RCV004703798]|not specified [RCV000438153] Chr19:48977986 [GRCh38]
Chr19:49481243 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.*26G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000264756] Chr19:48969262 [GRCh38]
Chr19:49472519 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.-182T>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000405137]|not provided [RCV000835710] Chr19:48993294 [GRCh38]
Chr19:49496551 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.693G>A (p.Lys231=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000356711]|not provided [RCV004717296]|not specified [RCV000429311] Chr19:48985591 [GRCh38]
Chr19:49488848 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.1308+5G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000293842] Chr19:48977919 [GRCh38]
Chr19:49481176 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.222G>A (p.Arg74=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000382537]|not specified [RCV000443969] Chr19:48991380 [GRCh38]
Chr19:49494637 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1549+7G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000385566]|not provided [RCV004717295]|not specified [RCV000439998] Chr19:48974206 [GRCh38]
Chr19:49477463 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.*78C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000361674] Chr19:48969210 [GRCh38]
Chr19:49472467 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1305G>A (p.Thr435=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000346428]|not specified [RCV000602436] Chr19:48977927 [GRCh38]
Chr19:49481184 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000339085] Chr19:48982296 [GRCh38]
Chr19:49485553 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1077G>A (p.Glu359=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000405369]|not provided [RCV004694442] Chr19:48981622 [GRCh38]
Chr19:49484879 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000305166]|not provided [RCV000675688]|not specified [RCV000438753] Chr19:48982291 [GRCh38]
Chr19:49485548 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002532403]|not provided [RCV000594334] Chr19:48974724 [GRCh38]
Chr19:49477981 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49389934-49477474)x1 copy number loss not provided [RCV000752723] Chr19:49389934..49477474 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.*301G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000304771]|Hereditary hyperferritinemia with congenital cataracts [RCV000308508]|Neuroferritinopathy [RCV000390061] Chr19:48968987 [GRCh38]
Chr19:49472244 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.*370A>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000394546]|Hereditary hyperferritinemia with congenital cataracts [RCV000312141]|Neuroferritinopathy [RCV000366661] Chr19:48968918 [GRCh38]
Chr19:49472175 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.*868A>G single nucleotide variant FTL-related disorder [RCV003897755]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000351727]|Hereditary hyperferritinemia with congenital cataracts [RCV000359249]|Neuroferritinopathy [RCV000320960] Chr19:48968420 [GRCh38]
Chr19:49471677 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) single nucleotide variant GYS1-related disorder [RCV003950317]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000963024]|Hereditary hyperferritinemia with congenital cataracts [RCV000359703]|Neuroferritinopathy [RCV000323667]|not provided [RCV003409562]|not specified [RCV000417882] Chr19:48969459 [GRCh38]
Chr19:49472716 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002103.5(GYS1):c.*824del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000293435] Chr19:48968464 [GRCh38]
Chr19:49471721 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000316303]|Inborn genetic diseases [RCV004021752] Chr19:48969541 [GRCh38]
Chr19:49472798 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*659C>T single nucleotide variant FTL-related disorder [RCV003897756]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000394568]|Hereditary hyperferritinemia with congenital cataracts [RCV000384998]|Neuroferritinopathy [RCV000328102] Chr19:48968629 [GRCh38]
Chr19:49471886 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NC_000019.10:g.48993372del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000346139]|not provided [RCV001584103] Chr19:48993365 [GRCh38]
Chr19:49496622 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.*421A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130379]|Hereditary hyperferritinemia with congenital cataracts [RCV000394121]|Neuroferritinopathy [RCV000351852] Chr19:48968867 [GRCh38]
Chr19:49472124 [GRCh37]
Chr19:19q13.33		 likely benign
NM_000146.4(FTL):c.163T>C (p.Leu55=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000370536]|Hereditary hyperferritinemia with congenital cataracts [RCV000369896]|Hereditary hyperferritinemia with congenital cataracts [RCV001516688]|Hereditary hyperferritinemia with congenital cataracts [RCV005394499]|L-ferritin deficiency [RCV001701526]|Neuroferritinopathy [RCV000315169]|not provided [RCV000839535]|not specified [RCV000146000]|sporadic abdominal aortic aneurysm [RCV000144503] Chr19:48965830 [GRCh38]
Chr19:49469087 [GRCh37]
Chr19:19q13.33		 likely pathogenic|benign
NM_002103.5(GYS1):c.-172T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000337699] Chr19:48993284 [GRCh38]
Chr19:49496541 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*908G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000278073]|Hereditary hyperferritinemia with congenital cataracts [RCV000263403]|Neuroferritinopathy [RCV000355645]|not provided [RCV001785575] Chr19:48968380 [GRCh38]
Chr19:49471637 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000355806]|Hereditary hyperferritinemia with congenital cataracts [RCV000264999]|Neuroferritinopathy [RCV000319738]|not provided [RCV001705495] Chr19:48969489 [GRCh38]
Chr19:49472746 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.*841A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000387720]|Hereditary hyperferritinemia with congenital cataracts [RCV000266955]|Neuroferritinopathy [RCV000324564]|not provided [RCV001778920] Chr19:48968447 [GRCh38]
Chr19:49471704 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) single nucleotide variant GYS1-related disorder [RCV004751472]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000303344]|Hereditary hyperferritinemia with congenital cataracts [RCV000268611]|Neuroferritinopathy [RCV000363216] Chr19:48969295 [GRCh38]
Chr19:49472552 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.1170-13C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000287959] Chr19:48978170 [GRCh38]
Chr19:49481427 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.*472G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000310662] Chr19:48968816 [GRCh38]
Chr19:49472073 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.235C>T (p.Leu79=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000325572] Chr19:48991367 [GRCh38]
Chr19:49494624 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.*1044T>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000374761] Chr19:48968244 [GRCh38]
Chr19:49471501 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*450G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000344476]|Hereditary hyperferritinemia with congenital cataracts [RCV000394131]|Neuroferritinopathy [RCV000278136]|not provided [RCV002051841] Chr19:48968838 [GRCh38]
Chr19:49472095 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000276081]|Hereditary hyperferritinemia with congenital cataracts [RCV000389587]|Neuroferritinopathy [RCV000316270]|not provided [RCV001706535] Chr19:48969817 [GRCh38]
Chr19:49473074 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1926G>A (p.Val642=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000373018]|Hereditary hyperferritinemia with congenital cataracts [RCV000374442]|Neuroferritinopathy [RCV000279916]|not provided [RCV004703797]|not specified [RCV000421901] Chr19:48969576 [GRCh38]
Chr19:49472833 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.*611C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130377]|Hereditary hyperferritinemia with congenital cataracts [RCV000281817]|Neuroferritinopathy [RCV000336803] Chr19:48968677 [GRCh38]
Chr19:49471934 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.*725C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000348400]|Hereditary hyperferritinemia with congenital cataracts [RCV000381402]|Neuroferritinopathy [RCV000289397]|not provided [RCV001672557] Chr19:48968563 [GRCh38]
Chr19:49471820 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) single nucleotide variant GYS1-related disorder [RCV003940318]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000333417]|Hereditary hyperferritinemia with congenital cataracts [RCV000386131]|Neuroferritinopathy [RCV000291234]|not provided [RCV001706536] Chr19:48970958 [GRCh38]
Chr19:49474215 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000645191]|Hereditary hyperferritinemia with congenital cataracts [RCV000350253]|Neuroferritinopathy [RCV000295273]|not provided [RCV004703913]|not specified [RCV000424879] Chr19:48970606 [GRCh38]
Chr19:49473863 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000344786]|Inborn genetic diseases [RCV004021753] Chr19:48981554 [GRCh38]
Chr19:49484811 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*1113_*1116del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000320078]|Hereditary hyperferritinemia with congenital cataracts [RCV000400213]|Neuroferritinopathy [RCV000298481]|not provided [RCV001859953] Chr19:48968172..48968175 [GRCh38]
Chr19:49471429..49471432 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001214230]|not provided [RCV000592153] Chr19:48974718 [GRCh38]
Chr19:49477975 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.310G>A (p.Gly104Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002527599]|not provided [RCV000520833] Chr19:48987376 [GRCh38]
Chr19:49490633 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.119-2_120del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001050632]|not provided [RCV000523819] Chr19:48991482..48991485 [GRCh38]
Chr19:49494739..49494742 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.1176G>A (p.Thr392=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002062465]|not specified [RCV000444982] Chr19:48978151 [GRCh38]
Chr19:49481408 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001053420]|not provided [RCV000438566] Chr19:48985530 [GRCh38]
Chr19:49488787 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000955565]|not provided [RCV001704279] Chr19:48974217 [GRCh38]
Chr19:49477474 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.300+7C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001395336]|not specified [RCV000436102] Chr19:48991295 [GRCh38]
Chr19:49494552 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1551T>G (p.Ala517=) single nucleotide variant GYS1-related disorder [RCV004751517]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001480940]|not specified [RCV000422516] Chr19:48971022 [GRCh38]
Chr19:49474279 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.555C>T (p.Gly185=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000973822]|not provided [RCV001703702] Chr19:48985973 [GRCh38]
Chr19:49489230 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.1926G>T (p.Val642=) single nucleotide variant not specified [RCV000430103] Chr19:48969576 [GRCh38]
Chr19:49472833 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.792C>T (p.Ile264=) single nucleotide variant not specified [RCV000433412] Chr19:48985492 [GRCh38]
Chr19:49488749 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.942-20G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002063351]|not specified [RCV000430265] Chr19:48982395 [GRCh38]
Chr19:49485652 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.813G>A (p.Lys271=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001456950]|not specified [RCV000430566] Chr19:48985471 [GRCh38]
Chr19:49488728 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.160dup (p.Thr54fs) duplication not provided [RCV000482051] Chr19:48991441..48991442 [GRCh38]
Chr19:49494698..49494699 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001249317]|not provided [RCV000493476] Chr19:48993012 [GRCh38]
Chr19:49496269 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance|not provided
NM_002103.5(GYS1):c.1A>C (p.Met1Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001345596]|not provided [RCV000493237] Chr19:48993112 [GRCh38]
Chr19:49496369 [GRCh37]
Chr19:19q13.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1335C>T (p.Thr445=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002529573]|not specified [RCV000606809] Chr19:48974707 [GRCh38]
Chr19:49477964 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1309-4G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000645190] Chr19:48974737 [GRCh38]
Chr19:49477994 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_002103.5(GYS1):c.1899G>A (p.Gly633=) single nucleotide variant not specified [RCV000602299] Chr19:48969603 [GRCh38]
Chr19:49472860 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.823+11_823+12del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002529463]|not specified [RCV000615126] Chr19:48985449..48985450 [GRCh38]
Chr19:49488706..49488707 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.234A>G (p.Glu78=) single nucleotide variant GYS1-related disorder [RCV003928004]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001079778]|not provided [RCV000675690] Chr19:48991368 [GRCh38]
Chr19:49494625 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.2001G>A (p.Pro667=) single nucleotide variant not specified [RCV000610711] Chr19:48969501 [GRCh38]
Chr19:49472758 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1083A>G (p.Thr361=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001444838]|not specified [RCV000616979] Chr19:48981616 [GRCh38]
Chr19:49484873 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1308+18G>T single nucleotide variant not specified [RCV000614220] Chr19:48977906 [GRCh38]
Chr19:49481163 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.965A>C (p.Lys322Thr) single nucleotide variant Inborn genetic diseases [RCV003266733] Chr19:48982352 [GRCh38]
Chr19:49485609 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.207G>A (p.Thr69=) single nucleotide variant GYS1-related disorder [RCV003953063]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000880901]|not specified [RCV000604691] Chr19:48991395 [GRCh38]
Chr19:49494652 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.1810-6C>T single nucleotide variant GYS1-related disorder [RCV003905616]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001487575]|not specified [RCV000605079] Chr19:48969861 [GRCh38]
Chr19:49473118 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1410C>T (p.Ala470=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005091691]|not provided [RCV001697918] Chr19:48974632 [GRCh38]
Chr19:49477889 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_002103.5(GYS1):c.493-22G>T single nucleotide variant not provided [RCV000675689] Chr19:48986057 [GRCh38]
Chr19:49489314 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1520C>T (p.Ser507Phe) single nucleotide variant Inborn genetic diseases [RCV004026038]|not provided [RCV000658848] Chr19:48974242 [GRCh38]
Chr19:49477499 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1204del (p.Arg402fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000687007] Chr19:48978123 [GRCh38]
Chr19:49481380 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.395A>G (p.Glu132Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000687520] Chr19:48987291 [GRCh38]
Chr19:49490548 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000691851]|not provided [RCV001532387] Chr19:48970958 [GRCh38]
Chr19:49474215 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000699592]|Inborn genetic diseases [RCV002533567] Chr19:48969786 [GRCh38]
Chr19:49473043 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000709981]|Inborn genetic diseases [RCV002532900]|not provided [RCV001585662] Chr19:48981578 [GRCh38]
Chr19:49484835 [GRCh37]
Chr19:19q13.33		 uncertain significance|not provided
NM_002103.5(GYS1):c.1810-123T>C single nucleotide variant not provided [RCV001567519] Chr19:48969978 [GRCh38]
Chr19:49473235 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.492+173G>A single nucleotide variant not provided [RCV001546400] Chr19:48987021 [GRCh38]
Chr19:49490278 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_002103.5(GYS1):c.1809+294C>T single nucleotide variant not provided [RCV001539545] Chr19:48970252 [GRCh38]
Chr19:49473509 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1308+239C>T single nucleotide variant not provided [RCV001609824] Chr19:48977685 [GRCh38]
Chr19:49480942 [GRCh37]
Chr19:19q13.33		 benign
NC_000019.10:g.48968073T>C single nucleotide variant not provided [RCV001691315] Chr19:48968073 [GRCh38]
Chr19:49471330 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1309-261T>C single nucleotide variant not provided [RCV001668726] Chr19:48974994 [GRCh38]
Chr19:49478251 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1549+37A>G single nucleotide variant not provided [RCV001568983] Chr19:48974176 [GRCh38]
Chr19:49477433 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.823+305T>C single nucleotide variant not provided [RCV001569404] Chr19:48985156 [GRCh38]
Chr19:49488413 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg) single nucleotide variant GYS1-related disorder [RCV003918661]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001065710] Chr19:48970601 [GRCh38]
Chr19:49473858 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.1309-329G>A single nucleotide variant not provided [RCV001608763] Chr19:48975062 [GRCh38]
Chr19:49478319 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1308+70C>G single nucleotide variant not provided [RCV001567237] Chr19:48977854 [GRCh38]
Chr19:49481111 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1068C>T (p.Asn356=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000902916]|not provided [RCV003992421] Chr19:48981631 [GRCh38]
Chr19:49484888 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1401T>C (p.Asn467=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000903090] Chr19:48974641 [GRCh38]
Chr19:49477898 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.987C>T (p.Ala329=) single nucleotide variant GYS1-related disorder [RCV003903028]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000923405] Chr19:48982330 [GRCh38]
Chr19:49485587 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.684C>T (p.Asn228=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002541560] Chr19:48985600 [GRCh38]
Chr19:49488857 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.177C>T (p.Gly59=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001414855]|not provided [RCV003326525] Chr19:48991425 [GRCh38]
Chr19:49494682 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_002103.5(GYS1):c.704A>T (p.Glu235Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001062200] Chr19:48985580 [GRCh38]
Chr19:49488837 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.666C>G (p.Asn222Lys) single nucleotide variant GYS1-related disorder [RCV003413820]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001037204]|Inborn genetic diseases [RCV002551376] Chr19:48985862 [GRCh38]
Chr19:49489119 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1890G>A (p.Ala630=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001048161]|not specified [RCV003479272] Chr19:48969775 [GRCh38]
Chr19:49473032 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.500C>A (p.Ala167Glu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000808055]|Inborn genetic diseases [RCV004986620] Chr19:48986028 [GRCh38]
Chr19:49489285 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1113G>A (p.Arg371=) single nucleotide variant not provided [RCV000906965] Chr19:48981586 [GRCh38]
Chr19:49484843 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1749C>T (p.Ile583=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000899426]|not provided [RCV004717729] Chr19:48970606 [GRCh38]
Chr19:49473863 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_002103.5(GYS1):c.1169+9C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003517275] Chr19:48981521 [GRCh38]
Chr19:49484778 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.942-126G>A single nucleotide variant not provided [RCV000835530] Chr19:48982501 [GRCh38]
Chr19:49485758 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1646-61T>A single nucleotide variant not provided [RCV000835531] Chr19:48970770 [GRCh38]
Chr19:49474027 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn) indel Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000804462]|Inborn genetic diseases [RCV002534782] Chr19:48974726..48974727 [GRCh38]
Chr19:49477983..49477984 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.793G>A (p.Glu265Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000809780]|Inborn genetic diseases [RCV002538061] Chr19:48985491 [GRCh38]
Chr19:49488748 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.119-72G>A single nucleotide variant not provided [RCV000835681] Chr19:48991555 [GRCh38]
Chr19:49494812 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.942-87C>A single nucleotide variant not provided [RCV000835711] Chr19:48982462 [GRCh38]
Chr19:49485719 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1170-68T>A single nucleotide variant not provided [RCV000835741] Chr19:48978225 [GRCh38]
Chr19:49481482 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.941+164A>G single nucleotide variant not provided [RCV000839686] Chr19:48982556 [GRCh38]
Chr19:49485813 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1052A>G (p.Tyr351Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000816251] Chr19:48982265 [GRCh38]
Chr19:49485522 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000806850] Chr19:48969593 [GRCh38]
Chr19:49472850 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.213G>C (p.Gln71His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000795904]|not provided [RCV001585716] Chr19:48991389 [GRCh38]
Chr19:49494646 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.221G>C (p.Arg74Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000799229] Chr19:48991381 [GRCh38]
Chr19:49494638 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000796633] Chr19:48974326 [GRCh38]
Chr19:49477583 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1170-217T>G single nucleotide variant not provided [RCV000841623] Chr19:48978374 [GRCh38]
Chr19:49481631 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000820424]|Inborn genetic diseases [RCV004029039] Chr19:48977996 [GRCh38]
Chr19:49481253 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001040760]|Inborn genetic diseases [RCV002549955]|not provided [RCV000996957] Chr19:48977989 [GRCh38]
Chr19:49481246 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000794201] Chr19:48978137 [GRCh38]
Chr19:49481394 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.314G>A (p.Arg105His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000810835]|Inborn genetic diseases [RCV004986624] Chr19:48987372 [GRCh38]
Chr19:49490629 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1063-182G>A single nucleotide variant not provided [RCV000829703] Chr19:48981818 [GRCh38]
Chr19:49485075 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1809+7C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001474262] Chr19:48970539 [GRCh38]
Chr19:49473796 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1309-186_1309-182del microsatellite not provided [RCV000841624] Chr19:48974915..48974919 [GRCh38]
Chr19:49478172..49478176 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1332C>T (p.Cys444=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001080283]|not provided [RCV000835768] Chr19:48974710 [GRCh38]
Chr19:49477967 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity
NM_002103.5(GYS1):c.2207del (p.Arg736fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001068266] Chr19:48969295 [GRCh38]
Chr19:49472552 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1872G>A (p.Glu624=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001135550] Chr19:48969793 [GRCh38]
Chr19:49473050 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1810-14C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001135551] Chr19:48969869 [GRCh38]
Chr19:49473126 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001135675] Chr19:48986023 [GRCh38]
Chr19:49489280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.(?_48987184)_(48987395_?)del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001032677] Chr19:49490441..49490652 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.(?_48977914)_(48993363_?)dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001032793] Chr19:49481171..49496620 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*59A>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001134049] Chr19:48969229 [GRCh38]
Chr19:49472486 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.217G>A (p.Val73Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001246577]|Inborn genetic diseases [RCV003346412] Chr19:48991385 [GRCh38]
Chr19:49494642 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130482] Chr19:48974635 [GRCh38]
Chr19:49477892 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130485] Chr19:48977929 [GRCh38]
Chr19:49481186 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*256G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131097]|not provided [RCV001796371] Chr19:48969032 [GRCh38]
Chr19:49472289 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.*110G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131100] Chr19:48969178 [GRCh38]
Chr19:49472435 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*465G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130378] Chr19:48968823 [GRCh38]
Chr19:49472080 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*413G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130380] Chr19:48968875 [GRCh38]
Chr19:49472132 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001202835] Chr19:48969517 [GRCh38]
Chr19:49472774 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1810-7C>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001209504] Chr19:48969862 [GRCh38]
Chr19:49473119 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.907C>T (p.Arg303Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001240293] Chr19:48982754 [GRCh38]
Chr19:49486011 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.760G>A (p.Val254Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001210306] Chr19:48985524 [GRCh38]
Chr19:49488781 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.40G>C (p.Gly14Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001238198] Chr19:48993073 [GRCh38]
Chr19:49496330 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.300+3G>A single nucleotide variant GYS1-related disorder [RCV003938565]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001221461] Chr19:48991299 [GRCh38]
Chr19:49494556 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001242259] Chr19:48985944 [GRCh38]
Chr19:49489201 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001212845] Chr19:48974330 [GRCh38]
Chr19:49477587 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001215410] Chr19:48981555 [GRCh38]
Chr19:49484812 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001245844]|not provided [RCV001773558] Chr19:48985897 [GRCh38]
Chr19:49489154 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.448G>A (p.Asp150Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001212350] Chr19:48987238 [GRCh38]
Chr19:49490495 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001134050] Chr19:48969382 [GRCh38]
Chr19:49472639 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001134051]|Inborn genetic diseases [RCV004978040]|not provided [RCV002509616] Chr19:48969467 [GRCh38]
Chr19:49472724 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*969C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001135430] Chr19:48968319 [GRCh38]
Chr19:49471576 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1809+13C>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003105041] Chr19:48970533 [GRCh38]
Chr19:49473790 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.334C>T (p.Pro112Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003106872] Chr19:48987352 [GRCh38]
Chr19:49490609 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49494539)_(49496369_?)dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003107589] Chr19:49494539..49496369 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.583C>T (p.Arg195Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003107195] Chr19:48985945 [GRCh38]
Chr19:49489202 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1308+245C>T single nucleotide variant not provided [RCV001551549] Chr19:48977679 [GRCh38]
Chr19:49480936 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1169+83T>C single nucleotide variant not provided [RCV001548431] Chr19:48981447 [GRCh38]
Chr19:49484704 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.941+85G>C single nucleotide variant not provided [RCV001583554] Chr19:48982635 [GRCh38]
Chr19:49485892 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1423-137C>G single nucleotide variant not provided [RCV001568584] Chr19:48974476 [GRCh38]
Chr19:49477733 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1549+25C>T single nucleotide variant not provided [RCV001555388] Chr19:48974188 [GRCh38]
Chr19:49477445 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1170-219G>A single nucleotide variant not provided [RCV001717583] Chr19:48978376 [GRCh38]
Chr19:49481633 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.300+41C>T single nucleotide variant not provided [RCV001550725] Chr19:48991261 [GRCh38]
Chr19:49494518 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.301-269dup duplication not provided [RCV001611371] Chr19:48987646..48987647 [GRCh38]
Chr19:49490903..49490904 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1423-55C>T single nucleotide variant not provided [RCV001577694] Chr19:48974394 [GRCh38]
Chr19:49477651 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1063-269CAAAA[4] microsatellite not provided [RCV001656720] Chr19:48981881..48981885 [GRCh38]
Chr19:49485138..49485142 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.493-125C>T single nucleotide variant not provided [RCV001653428] Chr19:48986160 [GRCh38]
Chr19:49489417 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.637C>T (p.Leu213=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV000907675] Chr19:48985891 [GRCh38]
Chr19:49489148 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.492+8C>A single nucleotide variant GYS1-related disorder [RCV003968072]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002065533] Chr19:48987186 [GRCh38]
Chr19:49490443 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.255G>A (p.Pro85=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002550549] Chr19:48991347 [GRCh38]
Chr19:49494604 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.150G>A (p.Lys50=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001472928] Chr19:48991452 [GRCh38]
Chr19:49494709 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001218343] Chr19:48974630 [GRCh38]
Chr19:49477887 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1170-2A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001210383] Chr19:48978159 [GRCh38]
Chr19:49481416 [GRCh37]
Chr19:19q13.33		 likely pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
NM_002103.5(GYS1):c.*395C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130381] Chr19:48968893 [GRCh38]
Chr19:49472150 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1169+13C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131214] Chr19:48981517 [GRCh38]
Chr19:49484774 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.-171A>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131320] Chr19:48993283 [GRCh38]
Chr19:49496540 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1548G>A (p.Pro516=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001223470] Chr19:48974214 [GRCh38]
Chr19:49477471 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.303G>A (p.Val101=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001128682] Chr19:48987383 [GRCh38]
Chr19:49490640 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.216C>T (p.Gly72=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001128683] Chr19:48991386 [GRCh38]
Chr19:49494643 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.578C>T (p.Ala193Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001051602]|Inborn genetic diseases [RCV003353129]|not provided [RCV005243460] Chr19:48985950 [GRCh38]
Chr19:49489207 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.646G>A (p.Gly216Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001209126] Chr19:48985882 [GRCh38]
Chr19:49489139 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.114C>G (p.Asn38Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001217321] Chr19:48992999 [GRCh38]
Chr19:49496256 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001047915] Chr19:48981587 [GRCh38]
Chr19:49484844 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.650C>T (p.Ala217Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001221577] Chr19:48985878 [GRCh38]
Chr19:49489135 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.646G>T (p.Gly216Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001241661]|Inborn genetic diseases [RCV004034687] Chr19:48985882 [GRCh38]
Chr19:49489139 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1308+8T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001473316] Chr19:48977916 [GRCh38]
Chr19:49481173 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.118+124_118+125insCTGTGACTC microsatellite not provided [RCV001562341] Chr19:48992870..48992871 [GRCh38]
Chr19:49496127..49496128 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.119-31G>A single nucleotide variant not provided [RCV001558733] Chr19:48991514 [GRCh38]
Chr19:49494771 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1196A>G (p.Lys399Arg) single nucleotide variant not provided [RCV002469745] Chr19:48978131 [GRCh38]
Chr19:49481388 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1549+249_1549+250insTGGGCAT insertion not provided [RCV001717838] Chr19:48973963..48973964 [GRCh38]
Chr19:49477220..49477221 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.824-161CAAA[3] microsatellite not provided [RCV001561585] Chr19:48982983..48982986 [GRCh38]
Chr19:49486240..49486243 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.118+260A>T single nucleotide variant not provided [RCV001540021] Chr19:48992735 [GRCh38]
Chr19:49495992 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.48993529C>T single nucleotide variant not provided [RCV001637442] Chr19:48993529 [GRCh38]
Chr19:49496786 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1549+221C>T single nucleotide variant not provided [RCV001594160] Chr19:48973992 [GRCh38]
Chr19:49477249 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001228322] Chr19:48982297 [GRCh38]
Chr19:49485554 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1377C>T (p.Thr459=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130483] Chr19:48974665 [GRCh38]
Chr19:49477922 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1338C>T (p.His446=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130484] Chr19:48974704 [GRCh38]
Chr19:49477961 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.*143C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131099] Chr19:48969145 [GRCh38]
Chr19:49472402 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*357G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131096] Chr19:48968931 [GRCh38]
Chr19:49472188 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*229C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131098] Chr19:48969059 [GRCh38]
Chr19:49472316 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.-195T>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131321] Chr19:48993307 [GRCh38]
Chr19:49496564 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001299640]|Inborn genetic diseases [RCV003246742]|not provided [RCV001171808] Chr19:48969580 [GRCh38]
Chr19:49472837 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1169+94GTTT[4] microsatellite not provided [RCV001651943] Chr19:48981413..48981420 [GRCh38]
Chr19:49484670..49484677 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.553G>A (p.Gly185Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001069404]|Inborn genetic diseases [RCV002554577] Chr19:48985975 [GRCh38]
Chr19:49489232 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1810-47G>A single nucleotide variant not provided [RCV001583270] Chr19:48969902 [GRCh38]
Chr19:49473159 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1809+266_1809+270dup duplication not provided [RCV001584708] Chr19:48970275..48970276 [GRCh38]
Chr19:49473532..49473533 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.301-283T>C single nucleotide variant not provided [RCV001691185] Chr19:48987668 [GRCh38]
Chr19:49490925 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.652G>A (p.Val218Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001035948] Chr19:48985876 [GRCh38]
Chr19:49489133 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1549+303G>A single nucleotide variant not provided [RCV001583511] Chr19:48973910 [GRCh38]
Chr19:49477167 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.(?_48977904)_(48993132_?)dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001033750] Chr19:49481161..49496389 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131213] Chr19:48978143 [GRCh38]
Chr19:49481400 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.135G>A (p.Thr45=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001059971] Chr19:48991467 [GRCh38]
Chr19:49494724 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.524T>C (p.Val175Ala) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001217292] Chr19:48986004 [GRCh38]
Chr19:49489261 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1012G>C (p.Gly338Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001215987] Chr19:48982305 [GRCh38]
Chr19:49485562 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001216147]|not provided [RCV001587233] Chr19:48969488 [GRCh38]
Chr19:49472745 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1229+1G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001060829] Chr19:48978097 [GRCh38]
Chr19:49481354 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.678+1G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001061520] Chr19:48985849 [GRCh38]
Chr19:49489106 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_002103.5(GYS1):c.1278T>G (p.Thr426=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001130486] Chr19:48977954 [GRCh38]
Chr19:49481211 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.254C>T (p.Pro85Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001233869]|not provided [RCV005429318] Chr19:48991348 [GRCh38]
Chr19:49494605 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001037646] Chr19:48969397 [GRCh38]
Chr19:49472654 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001205324] Chr19:48974718 [GRCh38]
Chr19:49477975 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1475A>T (p.Asp492Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001208055] Chr19:48974287 [GRCh38]
Chr19:49477544 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.278C>T (p.Ser93Phe) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001059371]|Inborn genetic diseases [RCV004031879] Chr19:48991324 [GRCh38]
Chr19:49494581 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1020C>T (p.Asp340=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001134175] Chr19:48982297 [GRCh38]
Chr19:49485554 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.803A>T (p.His268Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001134176] Chr19:48985481 [GRCh38]
Chr19:49488738 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.425C>T (p.Pro142Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001211086]|Inborn genetic diseases [RCV002561750] Chr19:48987261 [GRCh38]
Chr19:49490518 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001038243] Chr19:48969296 [GRCh38]
Chr19:49472553 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001230680] Chr19:48969485 [GRCh38]
Chr19:49472742 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131215] Chr19:48981543 [GRCh38]
Chr19:49484800 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys) indel Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001064489] Chr19:48981621..48981622 [GRCh38]
Chr19:49484878..49484879 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001134174]|Inborn genetic diseases [RCV004032295]|not provided [RCV004694835] Chr19:48981621 [GRCh38]
Chr19:49484878 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001240866] Chr19:48969288 [GRCh38]
Chr19:49472545 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.134C>T (p.Thr45Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001215536]|Inborn genetic diseases [RCV005348361] Chr19:48991468 [GRCh38]
Chr19:49494725 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.*387G>A single nucleotide variant not provided [RCV001813894] Chr19:48968901 [GRCh38]
Chr19:49472158 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1127A>G (p.Asn376Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001304572] Chr19:48981572 [GRCh38]
Chr19:49484829 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1492C>T (p.Arg498Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001312946] Chr19:48974270 [GRCh38]
Chr19:49477527 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.214G>T (p.Gly72Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001313141] Chr19:48991388 [GRCh38]
Chr19:49494645 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_002103.5(GYS1):c.2042C>T (p.Ala681Val) single nucleotide variant Inborn genetic diseases [RCV001266869] Chr19:48969460 [GRCh38]
Chr19:49472717 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1549+326G>A single nucleotide variant not provided [RCV001565549] Chr19:48973887 [GRCh38]
Chr19:49477144 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.666C>A (p.Asn222Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001340848] Chr19:48985862 [GRCh38]
Chr19:49489119 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.438C>T (p.Arg146=) single nucleotide variant GYS1-related disorder [RCV003918845]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001308234] Chr19:48987248 [GRCh38]
Chr19:49490505 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NC_000019.9:g.(?_49490441)_(49490652_?)del deletion Glycogen storage disease 0, muscle [RCV001295461] Chr19:49490441..49490652 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001325122] Chr19:48969470 [GRCh38]
Chr19:49472727 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1049A>G (p.Asn350Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001325197]|Inborn genetic diseases [RCV002543866] Chr19:48982268 [GRCh38]
Chr19:49485525 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2086C>T (p.Arg696Ter) single nucleotide variant Glycogen storage disease 0, muscle [RCV001292993] Chr19:48969416 [GRCh38]
Chr19:49472673 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1279A>G (p.Met427Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001316719]|Inborn genetic diseases [RCV005348435] Chr19:48977953 [GRCh38]
Chr19:49481210 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001306881]|Inborn genetic diseases [RCV004978289] Chr19:48969494 [GRCh38]
Chr19:49472751 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.20T>C (p.Leu7Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001295383] Chr19:48993093 [GRCh38]
Chr19:49496350 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001318247]|not provided [RCV003481067] Chr19:48985562 [GRCh38]
Chr19:49488819 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001318270] Chr19:48969458 [GRCh38]
Chr19:49472715 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.324C>G (p.Ile108Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001294892]|Inborn genetic diseases [RCV004035623] Chr19:48987362 [GRCh38]
Chr19:49490619 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2021G>A (p.Arg674His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001320996]|Inborn genetic diseases [RCV004629563] Chr19:48969481 [GRCh38]
Chr19:49472738 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1894C>T (p.Gln632Ter) single nucleotide variant Glycogen storage disease 0, muscle [RCV001335901] Chr19:48969608 [GRCh38]
Chr19:49472865 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.2027_2028del (p.Asp676fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001981596] Chr19:48969474..48969475 [GRCh38]
Chr19:49472731..49472732 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001295180] Chr19:48969493 [GRCh38]
Chr19:49472750 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.80C>T (p.Ala27Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001374012]|Inborn genetic diseases [RCV005348491] Chr19:48993033 [GRCh38]
Chr19:49496290 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.944A>T (p.His315Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001314185] Chr19:48982373 [GRCh38]
Chr19:49485630 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1288A>C (p.Arg430=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001392254] Chr19:48977944 [GRCh38]
Chr19:49481201 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1834G>C (p.Ala612Pro) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001359838] Chr19:48969831 [GRCh38]
Chr19:49473088 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.652G>C (p.Val218Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001362763] Chr19:48985876 [GRCh38]
Chr19:49489133 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.3G>T (p.Met1Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001343401] Chr19:48993110 [GRCh38]
Chr19:49496367 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.872A>G (p.His291Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001323775] Chr19:48982789 [GRCh38]
Chr19:49486046 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.56A>T (p.Glu19Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001373527] Chr19:48993057 [GRCh38]
Chr19:49496314 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.178G>A (p.Asp60Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001299002] Chr19:48991424 [GRCh38]
Chr19:49494681 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1473G>A (p.Val491=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001345731] Chr19:48974289 [GRCh38]
Chr19:49477546 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.418G>A (p.Gly140Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001301636] Chr19:48987268 [GRCh38]
Chr19:49490525 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1898G>T (p.Gly633Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001321797]|not provided [RCV001507962] Chr19:48969604 [GRCh38]
Chr19:49472861 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001301778] Chr19:48974679 [GRCh38]
Chr19:49477936 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.853AAG[1] (p.Lys286del) microsatellite Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001368940]|Inborn genetic diseases [RCV002548612] Chr19:48982803..48982805 [GRCh38]
Chr19:49486060..49486062 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.362C>T (p.Ala121Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001344196] Chr19:48987324 [GRCh38]
Chr19:49490581 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001307906] Chr19:48969406 [GRCh38]
Chr19:49472663 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.683A>G (p.Asn228Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001304189] Chr19:48985601 [GRCh38]
Chr19:49488858 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1822G>A (p.Ala608Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001315129] Chr19:48969843 [GRCh38]
Chr19:49473100 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1559C>T (p.Thr520Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001327020]|Inborn genetic diseases [RCV003246885] Chr19:48971014 [GRCh38]
Chr19:49474271 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1859A>G (p.His620Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001347967] Chr19:48969806 [GRCh38]
Chr19:49473063 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1835C>T (p.Ala612Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001371017] Chr19:48969830 [GRCh38]
Chr19:49473087 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49481161)_(49496369_?)dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001324431] Chr19:49481161..49496369 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.375C>A (p.Ala125=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001394998] Chr19:48987311 [GRCh38]
Chr19:49490568 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1075G>A (p.Glu359Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001365365] Chr19:48981624 [GRCh38]
Chr19:49484881 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001360986] Chr19:48969842 [GRCh38]
Chr19:49473099 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1015G>T (p.Ala339Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001312426] Chr19:48982302 [GRCh38]
Chr19:49485559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.492+10G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001396393] Chr19:48987184 [GRCh38]
Chr19:49490441 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.9:g.(?_49485502)_(49486104_?)del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001387103] Chr19:49485502..49486104 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1549+10G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001427892] Chr19:48974203 [GRCh38]
Chr19:49477460 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.153G>A (p.Ala51=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001490670] Chr19:48991449 [GRCh38]
Chr19:49494706 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1155G>A (p.Val385=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001476474] Chr19:48981544 [GRCh38]
Chr19:49484801 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1063-4G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001439056] Chr19:48981640 [GRCh38]
Chr19:49484897 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.699_700del (p.Arg236fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001380900] Chr19:48985584..48985585 [GRCh38]
Chr19:49488841..49488842 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.309C>T (p.Phe103=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001480734] Chr19:48987377 [GRCh38]
Chr19:49490634 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2070A>G (p.Ala690=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001492966] Chr19:48969432 [GRCh38]
Chr19:49472689 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.885C>T (p.Asn295=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001474772] Chr19:48982776 [GRCh38]
Chr19:49486033 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.603C>T (p.Ile201=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001474898] Chr19:48985925 [GRCh38]
Chr19:49489182 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.348C>T (p.Leu116=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001441030] Chr19:48987338 [GRCh38]
Chr19:49490595 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1908C>T (p.Tyr636=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001446249] Chr19:48969594 [GRCh38]
Chr19:49472851 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1218A>G (p.Glu406=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001441818] Chr19:48978109 [GRCh38]
Chr19:49481366 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1137C>T (p.Thr379=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001441949] Chr19:48981562 [GRCh38]
Chr19:49484819 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.147G>A (p.Thr49=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001447488] Chr19:48991455 [GRCh38]
Chr19:49494712 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1062+10G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001434776] Chr19:48982245 [GRCh38]
Chr19:49485502 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1779C>T (p.Ser593=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001419352] Chr19:48970576 [GRCh38]
Chr19:49473833 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1512C>T (p.Val504=) single nucleotide variant GYS1-related disorder [RCV003920947]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001440449] Chr19:48974250 [GRCh38]
Chr19:49477507 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1646-34G>C single nucleotide variant not provided [RCV001653142] Chr19:48970743 [GRCh38]
Chr19:49474000 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2001G>T (p.Pro667=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001499059] Chr19:48969501 [GRCh38]
Chr19:49472758 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1309-8T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001468486] Chr19:48974741 [GRCh38]
Chr19:49477998 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1550-10C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001478751] Chr19:48971033 [GRCh38]
Chr19:49474290 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1995C>T (p.Asn665=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001465000] Chr19:48969507 [GRCh38]
Chr19:49472764 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1646-76C>T single nucleotide variant not provided [RCV001536328] Chr19:48970785 [GRCh38]
Chr19:49474042 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.48993421T>C single nucleotide variant not provided [RCV001590757] Chr19:48993421 [GRCh38]
Chr19:49496678 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.681C>T (p.Phe227=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001462935] Chr19:48985603 [GRCh38]
Chr19:49488860 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.927G>C (p.Arg309=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001469982] Chr19:48982734 [GRCh38]
Chr19:49485991 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1170-89T>C single nucleotide variant not provided [RCV001671846] Chr19:48978246 [GRCh38]
Chr19:49481503 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1309-297T>G single nucleotide variant not provided [RCV001690245] Chr19:48975030 [GRCh38]
Chr19:49478287 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1416G>A (p.Arg472=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001435524] Chr19:48974626 [GRCh38]
Chr19:49477883 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.547T>C (p.Leu183=) single nucleotide variant GYS1-related disorder [RCV003908698]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001465406] Chr19:48985981 [GRCh38]
Chr19:49489238 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.645C>T (p.Ala215=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001484343] Chr19:48985883 [GRCh38]
Chr19:49489140 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.477C>G (p.Thr159=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001474257] Chr19:48987209 [GRCh38]
Chr19:49490466 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1110G>A (p.Ala370=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001454716] Chr19:48981589 [GRCh38]
Chr19:49484846 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1518C>T (p.Pro506=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001454365] Chr19:48974244 [GRCh38]
Chr19:49477501 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.913C>T (p.Gln305Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001387411] Chr19:48982748 [GRCh38]
Chr19:49486005 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1704C>T (p.Thr568=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001404640] Chr19:48970651 [GRCh38]
Chr19:49473908 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1128C>T (p.Asn376=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001435128] Chr19:48981571 [GRCh38]
Chr19:49484828 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.759C>T (p.His253=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001402458] Chr19:48985525 [GRCh38]
Chr19:49488782 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.645C>G (p.Ala215=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001504350] Chr19:48985883 [GRCh38]
Chr19:49489140 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1646-1_1647del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001726515] Chr19:48970708..48970710 [GRCh38]
Chr19:49473965..49473967 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1410C>G (p.Ala470=) single nucleotide variant not provided [RCV001727110] Chr19:48974632 [GRCh38]
Chr19:49477889 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.996T>G (p.Tyr332Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001783410] Chr19:48982321 [GRCh38]
Chr19:49485578 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.988G>A (p.Gly330Ser) single nucleotide variant not provided [RCV001751943] Chr19:48982329 [GRCh38]
Chr19:49485586 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48967978T>C single nucleotide variant not provided [RCV001779640] Chr19:48967978 [GRCh38]
Chr19:49471235 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.69C>T (p.Asp23=) single nucleotide variant not provided [RCV001815865] Chr19:48993044 [GRCh38]
Chr19:49496301 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1309-3C>T single nucleotide variant not provided [RCV004798562] Chr19:48974736 [GRCh38]
Chr19:49477993 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.941+4C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001864117] Chr19:48982716 [GRCh38]
Chr19:49485973 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1910C>T (p.Pro637Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001896739] Chr19:48969592 [GRCh38]
Chr19:49472849 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.827T>C (p.Ile276Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002045157] Chr19:48982834 [GRCh38]
Chr19:49486091 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2012A>T (p.Asp671Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001896593] Chr19:48969490 [GRCh38]
Chr19:49472747 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49477450)_(49478010_?)del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001970048] Chr19:49477450..49478010 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1057C>T (p.Leu353Phe) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002021638] Chr19:48982260 [GRCh38]
Chr19:49485517 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.410G>A (p.Cys137Tyr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001970004] Chr19:48987276 [GRCh38]
Chr19:49490533 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1385G>A (p.Arg462Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001927724] Chr19:48974657 [GRCh38]
Chr19:49477914 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.647G>C (p.Gly216Ala) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002005924] Chr19:48985881 [GRCh38]
Chr19:49489138 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1437G>A (p.Pro479=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001965036] Chr19:48974325 [GRCh38]
Chr19:49477582 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.448G>T (p.Asp150Tyr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002022917] Chr19:48987238 [GRCh38]
Chr19:49490495 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1808G>C (p.Arg603Pro) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001870853] Chr19:48970547 [GRCh38]
Chr19:49473804 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.200C>T (p.Pro67Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001891725] Chr19:48991402 [GRCh38]
Chr19:49494659 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1142A>C (p.Lys381Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001964634]|Inborn genetic diseases [RCV003167298] Chr19:48981557 [GRCh38]
Chr19:49484814 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.117G>C (p.Lys39Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001890969]|Inborn genetic diseases [RCV004631795] Chr19:48992996 [GRCh38]
Chr19:49496253 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2132T>A (p.Val711Glu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001983925] Chr19:48969370 [GRCh38]
Chr19:49472627 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.441G>A (p.Glu147=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001965812] Chr19:48987245 [GRCh38]
Chr19:49490502 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.206C>T (p.Thr69Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002001618] Chr19:48991396 [GRCh38]
Chr19:49494653 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.797C>T (p.Ala266Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001967340] Chr19:48985487 [GRCh38]
Chr19:49488744 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1390G>A (p.Gly464Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002003053] Chr19:48974652 [GRCh38]
Chr19:49477909 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.21G>C (p.Leu7Phe) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001892222] Chr19:48993092 [GRCh38]
Chr19:49496349 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1810T>A (p.Tyr604Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001909278] Chr19:48969855 [GRCh38]
Chr19:49473112 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.580C>T (p.Arg194Trp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001913134] Chr19:48985948 [GRCh38]
Chr19:49489205 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.251C>T (p.Thr84Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001890735] Chr19:48991351 [GRCh38]
Chr19:49494608 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1865C>T (p.Thr622Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002005401] Chr19:48969800 [GRCh38]
Chr19:49473057 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.27G>C (p.Met9Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001965865] Chr19:48993086 [GRCh38]
Chr19:49496343 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49472545)_(49486114_?)dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002043416] Chr19:49472545..49486114 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.620C>T (p.Thr207Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001943942] Chr19:48985908 [GRCh38]
Chr19:49489165 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.405_420del (p.Asp135fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001944013] Chr19:48987266..48987281 [GRCh38]
Chr19:49490523..49490538 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.929del (p.Gly310fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001944447] Chr19:48982732 [GRCh38]
Chr19:49485989 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.568C>G (p.Leu190Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002020147] Chr19:48985960 [GRCh38]
Chr19:49489217 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1814A>G (p.Tyr605Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001944840] Chr19:48969851 [GRCh38]
Chr19:49473108 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2198G>A (p.Gly733Asp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001973010] Chr19:48969304 [GRCh38]
Chr19:49472561 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.992G>C (p.Arg331Pro) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002016311] Chr19:48982325 [GRCh38]
Chr19:49485582 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.926G>A (p.Arg309Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001888213] Chr19:48982735 [GRCh38]
Chr19:49485992 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1102A>G (p.Met368Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002020310] Chr19:48981597 [GRCh38]
Chr19:49484854 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1547C>T (p.Pro516Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001941382] Chr19:48974215 [GRCh38]
Chr19:49477472 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1079A>T (p.Gln360Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002037237] Chr19:48981620 [GRCh38]
Chr19:49484877 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49472545)_(49496369_?)dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002016914] Chr19:49472545..49496369 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2057G>A (p.Arg686His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002034095] Chr19:48969445 [GRCh38]
Chr19:49472702 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1882_1883delinsCT (p.Ala628Leu) indel Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001886534] Chr19:48969782..48969783 [GRCh38]
Chr19:49473039..49473040 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.289A>G (p.Lys97Glu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002037543] Chr19:48991313 [GRCh38]
Chr19:49494570 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.581G>A (p.Arg194Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001903628] Chr19:48985947 [GRCh38]
Chr19:49489204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1744C>T (p.Arg582Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001899105] Chr19:48970611 [GRCh38]
Chr19:49473868 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.740C>T (p.Ala247Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001923023] Chr19:48985544 [GRCh38]
Chr19:49488801 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1493G>A (p.Arg498His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002014407]|Inborn genetic diseases [RCV002545569]|not provided [RCV002508333] Chr19:48974269 [GRCh38]
Chr19:49477526 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2209A>T (p.Asn737Tyr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001951980]|Inborn genetic diseases [RCV002557781] Chr19:48969293 [GRCh38]
Chr19:49472550 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.383G>A (p.Arg128His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002048231]|Inborn genetic diseases [RCV004046805] Chr19:48987303 [GRCh38]
Chr19:49490560 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1825C>A (p.Arg609Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001921326] Chr19:48969840 [GRCh38]
Chr19:49473097 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1087G>A (p.Val363Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001971799] Chr19:48981612 [GRCh38]
Chr19:49484869 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.118+10C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001977054] Chr19:48992985 [GRCh38]
Chr19:49496242 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.1904G>A (p.Arg635His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001921970]|Inborn genetic diseases [RCV004041233] Chr19:48969598 [GRCh38]
Chr19:49472855 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1261G>C (p.Asp421His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001957843] Chr19:48977971 [GRCh38]
Chr19:49481228 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1594T>A (p.Ser532Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002048493] Chr19:48970979 [GRCh38]
Chr19:49474236 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2138C>T (p.Thr713Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002047580] Chr19:48969364 [GRCh38]
Chr19:49472621 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.678C>T (p.Asn226=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001915952] Chr19:48985850 [GRCh38]
Chr19:49489107 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.945T>A (p.His315Gln) single nucleotide variant GYS1-related disorder [RCV004752115]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002014820] Chr19:48982372 [GRCh38]
Chr19:49485629 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1062+5G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001869973] Chr19:48982250 [GRCh38]
Chr19:49485507 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2084_2085del (p.Arg695fs) microsatellite Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001900168] Chr19:48969417..48969418 [GRCh38]
Chr19:49472674..49472675 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.38C>T (p.Pro13Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002016087] Chr19:48993075 [GRCh38]
Chr19:49496332 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.941+7G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001903799] Chr19:48982713 [GRCh38]
Chr19:49485970 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.1043G>A (p.Arg348Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002048200]|Inborn genetic diseases [RCV005350877] Chr19:48982274 [GRCh38]
Chr19:49485531 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1624A>G (p.Ile542Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002028375] Chr19:48970949 [GRCh38]
Chr19:49474206 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.546G>A (p.Trp182Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001931510] Chr19:48985982 [GRCh38]
Chr19:49489239 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1912C>T (p.Arg638Trp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001936400]|Inborn genetic diseases [RCV004975906] Chr19:48969590 [GRCh38]
Chr19:49472847 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1528G>A (p.Glu510Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001905401]|Inborn genetic diseases [RCV004039884]|not provided [RCV004693820] Chr19:48974234 [GRCh38]
Chr19:49477491 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001898690] Chr19:48969332 [GRCh38]
Chr19:49472589 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1870G>A (p.Glu624Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001900032] Chr19:48969795 [GRCh38]
Chr19:49473052 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2038G>A (p.Glu680Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002046345] Chr19:48969464 [GRCh38]
Chr19:49472721 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2168G>A (p.Ser723Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001903616] Chr19:48969334 [GRCh38]
Chr19:49472591 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.152C>T (p.Ala51Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002046696] Chr19:48991450 [GRCh38]
Chr19:49494707 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1568G>A (p.Gly523Glu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001959287] Chr19:48971005 [GRCh38]
Chr19:49474262 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.678+2T>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001959493] Chr19:48985848 [GRCh38]
Chr19:49489105 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_002103.5(GYS1):c.301-2A>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002018333] Chr19:48987387 [GRCh38]
Chr19:49490644 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.2165del (p.Pro722fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001980875]|not provided [RCV004774592] Chr19:48969337 [GRCh38]
Chr19:49472594 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49481161)_(49489312_?)del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001940123] Chr19:49481161..49489312 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1202G>A (p.Gly401Glu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001884380] Chr19:48978125 [GRCh38]
Chr19:49481382 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2092T>C (p.Ser698Pro) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001866329]|not provided [RCV002285508] Chr19:48969410 [GRCh38]
Chr19:49472667 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1718G>A (p.Ser573Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002031822] Chr19:48970637 [GRCh38]
Chr19:49473894 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.146C>T (p.Thr49Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002048350] Chr19:48991456 [GRCh38]
Chr19:49494713 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1177G>A (p.Ala393Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001900488] Chr19:48978150 [GRCh38]
Chr19:49481407 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1966C>T (p.Gln656Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001904677] Chr19:48969536 [GRCh38]
Chr19:49472793 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1063-18T>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002105469] Chr19:48981654 [GRCh38]
Chr19:49484911 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.942-20G>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002186903] Chr19:48982395 [GRCh38]
Chr19:49485652 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.717C>T (p.Tyr239=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002168783] Chr19:48985567 [GRCh38]
Chr19:49488824 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1185G>T (p.Thr395=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002089754] Chr19:48978142 [GRCh38]
Chr19:49481399 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2178C>T (p.Leu726=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002106753] Chr19:48969324 [GRCh38]
Chr19:49472581 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1170-6C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002111388] Chr19:48978163 [GRCh38]
Chr19:49481420 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1809+9C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002085235] Chr19:48970537 [GRCh38]
Chr19:49473794 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.801G>A (p.Gln267=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002206158] Chr19:48985483 [GRCh38]
Chr19:49488740 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2124C>G (p.Arg708=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002189484] Chr19:48969378 [GRCh38]
Chr19:49472635 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1314G>A (p.Gln438=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002089462] Chr19:48974728 [GRCh38]
Chr19:49477985 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1423-4C>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002145917] Chr19:48974343 [GRCh38]
Chr19:49477600 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1810-9T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002090966] Chr19:48969864 [GRCh38]
Chr19:49473121 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1962G>A (p.Pro654=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002091481] Chr19:48969540 [GRCh38]
Chr19:49472797 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1258C>T (p.Leu420=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003517358]|not specified [RCV002247881] Chr19:48977974 [GRCh38]
Chr19:49481231 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.1810-19C>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002071376]|not provided [RCV004704675] Chr19:48969874 [GRCh38]
Chr19:49473131 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2016C>A (p.Gly672=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002191970] Chr19:48969486 [GRCh38]
Chr19:49472743 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.824-14dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002117223] Chr19:48982850..48982851 [GRCh38]
Chr19:49486107..49486108 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1063-8C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002117452] Chr19:48981644 [GRCh38]
Chr19:49484901 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1063-5C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002145907] Chr19:48981641 [GRCh38]
Chr19:49484898 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1169+14G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002080836] Chr19:48981516 [GRCh38]
Chr19:49484773 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1740G>A (p.Arg580=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002109614] Chr19:48970615 [GRCh38]
Chr19:49473872 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.6T>C (p.Pro2=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002192941] Chr19:48993107 [GRCh38]
Chr19:49496364 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1122T>C (p.Asn374=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002086128] Chr19:48981577 [GRCh38]
Chr19:49484834 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1899G>T (p.Gly633=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002215141] Chr19:48969603 [GRCh38]
Chr19:49472860 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1062+20G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002078838] Chr19:48982235 [GRCh38]
Chr19:49485492 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1810-18del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002150697] Chr19:48969873 [GRCh38]
Chr19:49473130 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1932G>A (p.Pro644=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002093010] Chr19:48969570 [GRCh38]
Chr19:49472827 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1533T>C (p.Pro511=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002113571] Chr19:48974229 [GRCh38]
Chr19:49477486 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1810-19C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002114268] Chr19:48969874 [GRCh38]
Chr19:49473131 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.300+11G>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002170024]|not provided [RCV004704683] Chr19:48991291 [GRCh38]
Chr19:49494548 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1572C>T (p.Ile524=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002197860] Chr19:48971001 [GRCh38]
Chr19:49474258 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.300+11G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002202911] Chr19:48991291 [GRCh38]
Chr19:49494548 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.301-10C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002154363] Chr19:48987395 [GRCh38]
Chr19:49490652 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1309-17T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002139990] Chr19:48974750 [GRCh38]
Chr19:49478007 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1229+19G>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002199395] Chr19:48978079 [GRCh38]
Chr19:49481336 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1549+19G>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002121798] Chr19:48974194 [GRCh38]
Chr19:49477451 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1891-11G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002120150] Chr19:48969622 [GRCh38]
Chr19:49472879 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.621G>A (p.Thr207=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002122216] Chr19:48985907 [GRCh38]
Chr19:49489164 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.984C>T (p.Ile328=) single nucleotide variant GYS1-related disorder [RCV003895952]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002140250]|not provided [RCV004704797] Chr19:48982333 [GRCh38]
Chr19:49485590 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.118+18C>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002162482] Chr19:48992977 [GRCh38]
Chr19:49496234 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1809+18C>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002199864] Chr19:48970528 [GRCh38]
Chr19:49473785 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1169+18C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002203544] Chr19:48981512 [GRCh38]
Chr19:49484769 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.678+13C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002083850] Chr19:48985837 [GRCh38]
Chr19:49489094 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.908G>A (p.Arg303Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003117968]|not provided [RCV005060931] Chr19:48982753 [GRCh38]
Chr19:49486010 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49472545)_(49714755_?)del deletion Progressive familial heart block type IB [RCV003119771] Chr19:49472545..49714755 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1157G>A (p.Arg386His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003121262] Chr19:48981542 [GRCh38]
Chr19:49484799 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1646-6C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003121912] Chr19:48970715 [GRCh38]
Chr19:49473972 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.9:g.(?_49468350)_(49481434_?)del deletion Hereditary hyperferritinemia with congenital cataracts [RCV003119414] Chr19:49468350..49481434 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1772G>A (p.Arg591His) single nucleotide variant Inborn genetic diseases [RCV003276956] Chr19:48970583 [GRCh38]
Chr19:49473840 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.495C>G (p.Phe165Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003014052] Chr19:48986033 [GRCh38]
Chr19:49489290 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1309C>T (p.Arg437Trp) single nucleotide variant Inborn genetic diseases [RCV002749561] Chr19:48974733 [GRCh38]
Chr19:49477990 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1826G>A (p.Arg609His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002904360] Chr19:48969839 [GRCh38]
Chr19:49473096 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.786C>T (p.Thr262=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002975649] Chr19:48985498 [GRCh38]
Chr19:49488755 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1810-11C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003076324] Chr19:48969866 [GRCh38]
Chr19:49473123 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1716C>T (p.Tyr572=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003077082] Chr19:48970639 [GRCh38]
Chr19:49473896 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.7_8del (p.Leu3fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003076877] Chr19:48993105..48993106 [GRCh38]
Chr19:49496362..49496363 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.14G>A (p.Arg5His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003034687] Chr19:48993099 [GRCh38]
Chr19:49496356 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.374C>T (p.Ala125Val) single nucleotide variant Inborn genetic diseases [RCV002865257] Chr19:48987312 [GRCh38]
Chr19:49490569 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1200C>T (p.Phe400=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003076853] Chr19:48978127 [GRCh38]
Chr19:49481384 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.447C>T (p.Asn149=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003075364] Chr19:48987239 [GRCh38]
Chr19:49490496 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.457C>G (p.Leu153Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002861325] Chr19:48987229 [GRCh38]
Chr19:49490486 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1890+1G>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003013210] Chr19:48969774 [GRCh38]
Chr19:49473031 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1525T>C (p.Tyr509His) single nucleotide variant Inborn genetic diseases [RCV002841247] Chr19:48974237 [GRCh38]
Chr19:49477494 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1810-20C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002995457] Chr19:48969875 [GRCh38]
Chr19:49473132 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1018G>A (p.Asp340Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003097540] Chr19:48982299 [GRCh38]
Chr19:49485556 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.941+20A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003074363] Chr19:48982700 [GRCh38]
Chr19:49485957 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.169G>A (p.Glu57Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002776513] Chr19:48991433 [GRCh38]
Chr19:49494690 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1550-17C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002614157] Chr19:48971040 [GRCh38]
Chr19:49474297 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.941+5G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003076733] Chr19:48982715 [GRCh38]
Chr19:49485972 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.382C>T (p.Arg128Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003076312] Chr19:48987304 [GRCh38]
Chr19:49490561 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.867C>A (p.Ala289=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002867152] Chr19:48982794 [GRCh38]
Chr19:49486051 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1063-2A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002847439] Chr19:48981638 [GRCh38]
Chr19:49484895 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.432C>T (p.Tyr144=) single nucleotide variant GYS1-related disorder [RCV003898720]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003053073] Chr19:48987254 [GRCh38]
Chr19:49490511 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.679-19G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002785510] Chr19:48985624 [GRCh38]
Chr19:49488881 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.823+11G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002927692] Chr19:48985450 [GRCh38]
Chr19:49488707 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.517C>G (p.Pro173Ala) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002740029] Chr19:48986011 [GRCh38]
Chr19:49489268 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2007G>A (p.Glu669=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002620810] Chr19:48969495 [GRCh38]
Chr19:49472752 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1062+11G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002910016] Chr19:48982244 [GRCh38]
Chr19:49485501 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.150G>C (p.Lys50Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003036451] Chr19:48991452 [GRCh38]
Chr19:49494709 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.176G>A (p.Gly59Asp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003052806] Chr19:48991426 [GRCh38]
Chr19:49494683 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1362C>T (p.Asp454=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002620457] Chr19:48974680 [GRCh38]
Chr19:49477937 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.892G>A (p.Ala298Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003111644]|Inborn genetic diseases [RCV002660378] Chr19:48982769 [GRCh38]
Chr19:49486026 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1063-19C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002690583] Chr19:48981655 [GRCh38]
Chr19:49484912 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1995C>A (p.Asn665Lys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003035500] Chr19:48969507 [GRCh38]
Chr19:49472764 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1316C>A (p.Ser439Tyr) single nucleotide variant Inborn genetic diseases [RCV002869330] Chr19:48974726 [GRCh38]
Chr19:49477983 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.800A>G (p.Gln267Arg) single nucleotide variant Inborn genetic diseases [RCV002797677] Chr19:48985484 [GRCh38]
Chr19:49488741 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1309-9del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002785226] Chr19:48974742 [GRCh38]
Chr19:49477999 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1589A>G (p.Asn530Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003002054] Chr19:48970984 [GRCh38]
Chr19:49474241 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.714C>A (p.Ile238=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002824967] Chr19:48985570 [GRCh38]
Chr19:49488827 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.721C>T (p.Arg241Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002592145] Chr19:48985563 [GRCh38]
Chr19:49488820 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1185G>A (p.Thr395=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003077416] Chr19:48978142 [GRCh38]
Chr19:49481399 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.661T>G (p.Tyr221Asp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002800077] Chr19:48985867 [GRCh38]
Chr19:49489124 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1315T>A (p.Ser439Thr) single nucleotide variant Inborn genetic diseases [RCV002869329] Chr19:48974727 [GRCh38]
Chr19:49477984 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.300+7C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002884989] Chr19:48991295 [GRCh38]
Chr19:49494552 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1836G>A (p.Ala612=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002923354] Chr19:48969829 [GRCh38]
Chr19:49473086 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2182C>T (p.Pro728Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002711929] Chr19:48969320 [GRCh38]
Chr19:49472577 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1423-15_1423-13del microsatellite Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003058913] Chr19:48974352..48974354 [GRCh38]
Chr19:49477609..49477611 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.300+11del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002876772] Chr19:48991291 [GRCh38]
Chr19:49494548 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1363C>A (p.Pro455Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002829259] Chr19:48974679 [GRCh38]
Chr19:49477936 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1645+12G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002741885] Chr19:48970916 [GRCh38]
Chr19:49474173 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1763G>A (p.Arg588His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003083592] Chr19:48970592 [GRCh38]
Chr19:49473849 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.679-4C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002790144] Chr19:48985609 [GRCh38]
Chr19:49488866 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1987C>T (p.Pro663Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002710410] Chr19:48969515 [GRCh38]
Chr19:49472772 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1682A>G (p.Asp561Gly) single nucleotide variant Inborn genetic diseases [RCV002742941] Chr19:48970673 [GRCh38]
Chr19:49473930 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1676G>A (p.Ser559Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003083643] Chr19:48970679 [GRCh38]
Chr19:49473936 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1411G>A (p.Asp471Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003084500] Chr19:48974631 [GRCh38]
Chr19:49477888 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1690T>G (p.Cys564Gly) single nucleotide variant Inborn genetic diseases [RCV002712928] Chr19:48970665 [GRCh38]
Chr19:49473922 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1903C>T (p.Arg635Cys) single nucleotide variant Inborn genetic diseases [RCV002804594] Chr19:48969599 [GRCh38]
Chr19:49472856 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1423-3C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002828136] Chr19:48974342 [GRCh38]
Chr19:49477599 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.359del (p.Gly120fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002667759] Chr19:48987327 [GRCh38]
Chr19:49490584 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.2056C>T (p.Arg686Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002711146] Chr19:48969446 [GRCh38]
Chr19:49472703 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.118+3_118+4delinsAG indel Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002700746] Chr19:48992991..48992992 [GRCh38]
Chr19:49496248..49496249 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.823+13C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002790925] Chr19:48985448 [GRCh38]
Chr19:49488705 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.297C>T (p.Cys99=) single nucleotide variant GYS1-related disorder [RCV003418609]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002766658] Chr19:48991305 [GRCh38]
Chr19:49494562 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.1698G>A (p.Gln566=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002700255] Chr19:48970657 [GRCh38]
Chr19:49473914 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.492+16C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003081879] Chr19:48987178 [GRCh38]
Chr19:49490435 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1645+18T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003081882] Chr19:48970910 [GRCh38]
Chr19:49474167 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1646-4A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003065610] Chr19:48970713 [GRCh38]
Chr19:49473970 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1994A>G (p.Asn665Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002939113] Chr19:48969508 [GRCh38]
Chr19:49472765 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.488G>T (p.Gly163Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003029924] Chr19:48987198 [GRCh38]
Chr19:49490455 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1839G>C (p.Leu613=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003092154] Chr19:48969826 [GRCh38]
Chr19:49473083 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1170-20T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003062934] Chr19:48978177 [GRCh38]
Chr19:49481434 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1007A>G (p.Asn336Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002651104]|Inborn genetic diseases [RCV004978716] Chr19:48982310 [GRCh38]
Chr19:49485567 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1308+20G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002720522] Chr19:48977904 [GRCh38]
Chr19:49481161 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1948C>T (p.Arg650Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003065763] Chr19:48969554 [GRCh38]
Chr19:49472811 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.685G>A (p.Val229Met) single nucleotide variant Inborn genetic diseases [RCV002674877] Chr19:48985599 [GRCh38]
Chr19:49488856 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2089G>C (p.Ala697Pro) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002599292]|Inborn genetic diseases [RCV005335686] Chr19:48969413 [GRCh38]
Chr19:49472670 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.988G>C (p.Gly330Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003089387] Chr19:48982329 [GRCh38]
Chr19:49485586 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.483C>T (p.Phe161=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002579846] Chr19:48987203 [GRCh38]
Chr19:49490460 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1811A>G (p.Tyr604Cys) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002806834] Chr19:48969854 [GRCh38]
Chr19:49473111 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1783C>A (p.Leu595Ile) single nucleotide variant Inborn genetic diseases [RCV002702626] Chr19:48970572 [GRCh38]
Chr19:49473829 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.893C>T (p.Ala298Val) single nucleotide variant Inborn genetic diseases [RCV002747461] Chr19:48982768 [GRCh38]
Chr19:49486025 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.301-16C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002599293] Chr19:48987401 [GRCh38]
Chr19:49490658 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.243G>A (p.Glu81=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002810885] Chr19:48991359 [GRCh38]
Chr19:49494616 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.601A>G (p.Ile201Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002650347] Chr19:48985927 [GRCh38]
Chr19:49489184 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1170-6C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003091888] Chr19:48978163 [GRCh38]
Chr19:49481420 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1846G>T (p.Ala616Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003027402] Chr19:48969819 [GRCh38]
Chr19:49473076 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1918G>T (p.Ala640Ser) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002631613] Chr19:48969584 [GRCh38]
Chr19:49472841 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1891-19C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003061486] Chr19:48969630 [GRCh38]
Chr19:49472887 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.119-15C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002806016] Chr19:48991498 [GRCh38]
Chr19:49494755 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1229+15C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003068081] Chr19:48978083 [GRCh38]
Chr19:49481340 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2081C>G (p.Pro694Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002943698] Chr19:48969421 [GRCh38]
Chr19:49472678 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1085T>C (p.Val362Ala) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002635576] Chr19:48981614 [GRCh38]
Chr19:49484871 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1201G>A (p.Gly401Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003067301] Chr19:48978126 [GRCh38]
Chr19:49481383 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2182C>G (p.Pro728Ala) single nucleotide variant Inborn genetic diseases [RCV002656963] Chr19:48969320 [GRCh38]
Chr19:49472577 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.119-14G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002582253] Chr19:48991497 [GRCh38]
Chr19:49494754 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.985G>A (p.Ala329Thr) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003050714] Chr19:48982332 [GRCh38]
Chr19:49485589 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1634C>T (p.Pro545Leu) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003093190] Chr19:48970939 [GRCh38]
Chr19:49474196 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1096T>C (p.Phe366Leu) single nucleotide variant Inborn genetic diseases [RCV002944399] Chr19:48981603 [GRCh38]
Chr19:49484860 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1230-2A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003050548] Chr19:48978004 [GRCh38]
Chr19:49481261 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.2077T>A (p.Trp693Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002943785] Chr19:48969425 [GRCh38]
Chr19:49472682 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1810-15C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002605951] Chr19:48969870 [GRCh38]
Chr19:49473127 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1046T>C (p.Leu349Pro) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002610457] Chr19:48982271 [GRCh38]
Chr19:49485528 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.492+17A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002604128] Chr19:48987177 [GRCh38]
Chr19:49490434 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1255A>G (p.Met419Val) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003092932] Chr19:48977977 [GRCh38]
Chr19:49481234 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.678+14G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002585496] Chr19:48985836 [GRCh38]
Chr19:49489093 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1810-7C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002633557] Chr19:48969862 [GRCh38]
Chr19:49473119 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.67G>A (p.Asp23Asn) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002603737]|not provided [RCV003456548] Chr19:48993046 [GRCh38]
Chr19:49496303 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.437G>A (p.Arg146His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003066885]|Inborn genetic diseases [RCV004978528] Chr19:48987249 [GRCh38]
Chr19:49490506 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1169+19G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003070035] Chr19:48981511 [GRCh38]
Chr19:49484768 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.498G>A (p.Leu166=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002612541] Chr19:48986030 [GRCh38]
Chr19:49489287 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_002103.5(GYS1):c.866C>G (p.Ala289Gly) single nucleotide variant not provided [RCV004790793] Chr19:48982795 [GRCh38]
Chr19:49486052 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1304C>T (p.Thr435Met) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003135508] Chr19:48977928 [GRCh38]
Chr19:49481185 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1645+1G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629267]|not provided [RCV003328034] Chr19:48970927 [GRCh38]
Chr19:49474184 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.1775T>C (p.Leu592Pro) single nucleotide variant Inborn genetic diseases [RCV003373315] Chr19:48970580 [GRCh38]
Chr19:49473837 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1349A>T (p.Asp450Val) single nucleotide variant not provided [RCV003457042] Chr19:48974693 [GRCh38]
Chr19:49477950 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1834G>A (p.Ala612Thr) single nucleotide variant not provided [RCV004790792] Chr19:48969831 [GRCh38]
Chr19:49473088 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.636C>A (p.Tyr212Ter) single nucleotide variant GYS1-related disorder [RCV003412397] Chr19:48985892 [GRCh38]
Chr19:49489149 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.159G>A (p.Val53=) single nucleotide variant not provided [RCV003415350] Chr19:48991443 [GRCh38]
Chr19:49494700 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1194A>G (p.Glu398=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003517541] Chr19:48978133 [GRCh38]
Chr19:49481390 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1309-20C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003630551] Chr19:48974753 [GRCh38]
Chr19:49478010 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2169C>A (p.Ser723Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003516659] Chr19:48969333 [GRCh38]
Chr19:49472590 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1229+16T>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003516671] Chr19:48978082 [GRCh38]
Chr19:49481339 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1063-17C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003630728] Chr19:48981653 [GRCh38]
Chr19:49484910 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1192_1193insCAAGG (p.Glu398fs) insertion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003518054] Chr19:48978134..48978135 [GRCh38]
Chr19:49481391..49481392 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.169G>T (p.Glu57Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003517798] Chr19:48991433 [GRCh38]
Chr19:49494690 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.192G>A (p.Leu64=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629805] Chr19:48991410 [GRCh38]
Chr19:49494667 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1062+15A>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003518432] Chr19:48982240 [GRCh38]
Chr19:49485497 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1539del (p.Tyr514fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003630404] Chr19:48974223 [GRCh38]
Chr19:49477480 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1662C>T (p.Asp554=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003630472] Chr19:48970693 [GRCh38]
Chr19:49473950 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.435C>T (p.Asp145=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003518325] Chr19:48987251 [GRCh38]
Chr19:49490508 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1164G>A (p.Gln388=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629412] Chr19:48981535 [GRCh38]
Chr19:49484792 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1269A>G (p.Glu423=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629623] Chr19:48977963 [GRCh38]
Chr19:49481220 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1646-9C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003628834] Chr19:48970718 [GRCh38]
Chr19:49473975 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.981T>C (p.Phe327=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629717] Chr19:48982336 [GRCh38]
Chr19:49485593 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1549+18G>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003630301] Chr19:48974195 [GRCh38]
Chr19:49477452 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1602C>T (p.Phe534=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003516932] Chr19:48970971 [GRCh38]
Chr19:49474228 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1815T>C (p.Tyr605=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003630436] Chr19:48969850 [GRCh38]
Chr19:49473107 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.816G>A (p.Arg272=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629945] Chr19:48985468 [GRCh38]
Chr19:49488725 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1074C>T (p.Ser358=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003630022] Chr19:48981625 [GRCh38]
Chr19:49484882 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1482G>A (p.Glu494=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003517847] Chr19:48974280 [GRCh38]
Chr19:49477537 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1042C>A (p.Arg348=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003628863] Chr19:48982275 [GRCh38]
Chr19:49485532 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.168C>T (p.Asp56=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003628898] Chr19:48991434 [GRCh38]
Chr19:49494691 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1423-13T>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003628925] Chr19:48974352 [GRCh38]
Chr19:49477609 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.941+10dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629942] Chr19:48982709..48982710 [GRCh38]
Chr19:49485966..49485967 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.679-18C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629714] Chr19:48985623 [GRCh38]
Chr19:49488880 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1299T>C (p.Phe433=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629988] Chr19:48977933 [GRCh38]
Chr19:49481190 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.489T>G (p.Gly163=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629900] Chr19:48987197 [GRCh38]
Chr19:49490454 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.198G>A (p.Gly66=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629408] Chr19:48991404 [GRCh38]
Chr19:49494661 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1072A>G (p.Ser358Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003629496] Chr19:48981627 [GRCh38]
Chr19:49484884 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.942-13G>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003631023] Chr19:48982388 [GRCh38]
Chr19:49485645 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1810-20C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003836312] Chr19:48969875 [GRCh38]
Chr19:49473132 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1423-10del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003856529] Chr19:48974349 [GRCh38]
Chr19:49477606 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1423-20T>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003631081] Chr19:48974359 [GRCh38]
Chr19:49477616 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1549+16dup duplication Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003844014] Chr19:48974196..48974197 [GRCh38]
Chr19:49477453..49477454 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.996T>C (p.Tyr332=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003861188] Chr19:48982321 [GRCh38]
Chr19:49485578 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2043C>A (p.Ala681=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003870505] Chr19:48969459 [GRCh38]
Chr19:49472716 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_002103.5(GYS1):c.942-14del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003843144] Chr19:48982389 [GRCh38]
Chr19:49485646 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.98C>G (p.Ala33Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003866423] Chr19:48993015 [GRCh38]
Chr19:49496272 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.301-10C>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV003853659] Chr19:48987395 [GRCh38]
Chr19:49490652 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.48968167G>C single nucleotide variant FTL-related disorder [RCV003967199] Chr19:48968167 [GRCh38]
Chr19:49471424 [GRCh37]
Chr19:19q13.33		 benign
NM_002103.5(GYS1):c.1831A>G (p.Met611Val) single nucleotide variant GYS1-related disorder [RCV003897017] Chr19:48969834 [GRCh38]
Chr19:49473091 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2064C>A (p.Ile688=) single nucleotide variant GYS1-related disorder [RCV003947150] Chr19:48969438 [GRCh38]
Chr19:49472695 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.48968921G>A single nucleotide variant FTL-related disorder [RCV003896327] Chr19:48968921 [GRCh38]
Chr19:49472178 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.634T>C (p.Tyr212His) single nucleotide variant Inborn genetic diseases [RCV004388752] Chr19:48985894 [GRCh38]
Chr19:49489151 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.739G>A (p.Ala247Thr) single nucleotide variant Inborn genetic diseases [RCV004388753] Chr19:48985545 [GRCh38]
Chr19:49488802 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.989_992del (p.Gly330fs) microsatellite Glycogen storage disease [RCV004018321] Chr19:48982325..48982328 [GRCh38]
Chr19:49485582..49485585 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NC_000019.9:g.(?_49494539)_(49494760_?)del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV004581088] Chr19:49494539..49494760 [GRCh37]
Chr19:19q13.33		 pathogenic
NC_000019.9:g.(?_49484767)_(49486114_?)del deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV004581089] Chr19:49484767..49486114 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1256T>G (p.Met419Arg) single nucleotide variant Inborn genetic diseases [RCV004627194] Chr19:48977976 [GRCh38]
Chr19:49481233 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.10:g.48968927C>T single nucleotide variant FTL-related disorder [RCV004752445] Chr19:48968927 [GRCh38]
Chr19:49472184 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1460C>T (p.Pro487Leu) single nucleotide variant Inborn genetic diseases [RCV004977801] Chr19:48974302 [GRCh38]
Chr19:49477559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.503A>G (p.Gln168Arg) single nucleotide variant Inborn genetic diseases [RCV004977803] Chr19:48986025 [GRCh38]
Chr19:49489282 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1180A>G (p.Asn394Asp) single nucleotide variant Inborn genetic diseases [RCV004977804] Chr19:48978147 [GRCh38]
Chr19:49481404 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.610A>T (p.Thr204Ser) single nucleotide variant Inborn genetic diseases [RCV004977802] Chr19:48985918 [GRCh38]
Chr19:49489175 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2147C>T (p.Ser716Phe) single nucleotide variant Inborn genetic diseases [RCV004977805] Chr19:48969355 [GRCh38]
Chr19:49472612 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.787G>A (p.Ala263Thr) single nucleotide variant Inborn genetic diseases [RCV004977800] Chr19:48985497 [GRCh38]
Chr19:49488754 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2123G>A (p.Arg708His) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005062844] Chr19:48969379 [GRCh38]
Chr19:49472636 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.750C>T (p.His250=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005170882] Chr19:48985534 [GRCh38]
Chr19:49488791 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.493-1G>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005066367] Chr19:48986036 [GRCh38]
Chr19:49489293 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.1111C>T (p.Arg371Trp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005015858] Chr19:48981588 [GRCh38]
Chr19:49484845 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1230-19G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005064673] Chr19:48978021 [GRCh38]
Chr19:49481278 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1810-13T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005176708] Chr19:48969868 [GRCh38]
Chr19:49473125 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.594A>G (p.Val198=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005185628] Chr19:48985934 [GRCh38]
Chr19:49489191 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1234del (p.Ser412fs) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005186899] Chr19:48977998 [GRCh38]
Chr19:49481255 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.582G>A (p.Arg194=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005159419] Chr19:48985946 [GRCh38]
Chr19:49489203 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.999G>A (p.Glu333=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005206551] Chr19:48982318 [GRCh38]
Chr19:49485575 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1307A>G (p.Gln436Arg) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005205460] Chr19:48977925 [GRCh38]
Chr19:49481182 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1063-9T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005159733] Chr19:48981645 [GRCh38]
Chr19:49484902 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1786C>T (p.Leu596=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005185073] Chr19:48970569 [GRCh38]
Chr19:49473826 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2133G>A (p.Val711=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005185117] Chr19:48969369 [GRCh38]
Chr19:49472626 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1063-20C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005069283] Chr19:48981656 [GRCh38]
Chr19:49484913 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.502C>T (p.Gln168Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005076410] Chr19:48986026 [GRCh38]
Chr19:49489283 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.1550-16T>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005124493] Chr19:48971039 [GRCh38]
Chr19:49474296 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1230-13G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005156682] Chr19:48978015 [GRCh38]
Chr19:49481272 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.2142C>A (p.Ala714=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005163219] Chr19:48969360 [GRCh38]
Chr19:49472617 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1359A>C (p.Ser453=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005118650] Chr19:48974683 [GRCh38]
Chr19:49477940 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1422+17A>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005076041] Chr19:48974603 [GRCh38]
Chr19:49477860 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1596C>A (p.Ser532=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005160380] Chr19:48970977 [GRCh38]
Chr19:49474234 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1626C>A (p.Ile542=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005187550] Chr19:48970947 [GRCh38]
Chr19:49474204 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1827C>A (p.Arg609=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005083591] Chr19:48969838 [GRCh38]
Chr19:49473095 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1890+11C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005166472] Chr19:48969764 [GRCh38]
Chr19:49473021 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1170-13C>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005159478] Chr19:48978170 [GRCh38]
Chr19:49481427 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1550-18T>C single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005183410] Chr19:48971041 [GRCh38]
Chr19:49474298 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.492+20T>G single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005176553] Chr19:48987174 [GRCh38]
Chr19:49490431 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1358C>G (p.Ser453Ter) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005204292] Chr19:48974684 [GRCh38]
Chr19:49477941 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_002103.5(GYS1):c.450C>T (p.Asp150=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005176909] Chr19:48987236 [GRCh38]
Chr19:49490493 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.1120A>G (p.Asn374Asp) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005123932] Chr19:48981579 [GRCh38]
Chr19:49484836 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.661_663del (p.Tyr221del) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005108722] Chr19:48985865..48985867 [GRCh38]
Chr19:49489122..49489124 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1422+1G>A single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005149698] Chr19:48974619 [GRCh38]
Chr19:49477876 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_002103.5(GYS1):c.2112C>T (p.Ser704=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005200403] Chr19:48969390 [GRCh38]
Chr19:49472647 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.753C>T (p.Cys251=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005176400] Chr19:48985531 [GRCh38]
Chr19:49488788 [GRCh37]
Chr19:19q13.33		 likely benign
NM_002103.5(GYS1):c.986C>T (p.Ala329Val) single nucleotide variant Inborn genetic diseases [RCV005346313] Chr19:48982331 [GRCh38]
Chr19:49485588 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1499G>A (p.Cys500Tyr) single nucleotide variant Inborn genetic diseases [RCV005346311] Chr19:48974263 [GRCh38]
Chr19:49477520 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1716_1717del (p.Tyr572_Ser573delinsTer) deletion GYS1-related disorder [RCV004731457]|Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV005103672] Chr19:48970638..48970639 [GRCh38]
Chr19:49473895..49473896 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic
NM_002103.5(GYS1):c.1242C>T (p.Pro414=) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001131212] Chr19:48977990 [GRCh38]
Chr19:49481247 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_002103.5(GYS1):c.1452_1454del (p.Thr485del) deletion Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001207934] Chr19:48974308..48974310 [GRCh38]
Chr19:49477565..49477567 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2110A>G (p.Ser704Gly) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001993537] Chr19:48969392 [GRCh38]
Chr19:49472649 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.1544C>T (p.Thr515Ile) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002020082] Chr19:48974218 [GRCh38]
Chr19:49477475 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.2203G>C (p.Glu735Gln) single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV001881861]|Inborn genetic diseases [RCV003289179] Chr19:48969299 [GRCh38]
Chr19:49472556 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_002103.5(GYS1):c.823+20C>T single nucleotide variant Glycogen storage disease due to muscle and heart glycogen synthase deficiency [RCV002206760] Chr19:48985441 [GRCh38]
Chr19:49488698 [GRCh37]
Chr19:19q13.33		 likely benign
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR122hsa-miR-122-5pMirtarbaseexternal_infoqRT-PCR//Western blot//Northern blotFunctional MTI18073344
MIR122hsa-miR-122-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17612493

Predicted Target Of
Summary Value
Count of predictions:3931
Count of miRNA genes:1039
Interacting mature miRNAs:1263
Transcripts:ENST00000263276, ENST00000323798, ENST00000457974, ENST00000472004, ENST00000484289, ENST00000496048, ENST00000540532, ENST00000541188, ENST00000544287, ENST00000594220
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597322043GWAS1418117_Hhuman Chorionic Gonadotropin measurement QTL GWAS1418117 (human)3e-12human Chorionic Gonadotropin measurement194898803748988038Human
628724346GWAS2632575_H17-beta-hydroxysteroid dehydrogenase 14 measurement QTL GWAS2632575 (human)1e-1617-beta-hydroxysteroid dehydrogenase 14 measurement194897219548972196Human
597195966GWAS1292040_Hplatelet count QTL GWAS1292040 (human)2e-08platelet quantity (VT:0003179)platelet count (CMO:0000029)194897798648977987Human
407292160GWAS941136_Hhuman Chorionic Gonadotropin measurement QTL GWAS941136 (human)3e-12human Chorionic Gonadotropin measurement194898803748988038Human
617141667GWAS2159166_Hlevel of 17-beta-hydroxysteroid dehydrogenase 14 in blood serum QTL GWAS2159166 (human)1e-16level of 17-beta-hydroxysteroid dehydrogenase 14 in blood serum194897219548972196Human
616536111GWAS1932694_Hdickkopf-like protein 1 measurement QTL GWAS1932694 (human)5e-31dickkopf-like protein 1 measurement194897261948972620Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
616542988GWAS1939571_Hlevel of 17-beta-hydroxysteroid dehydrogenase 14 in blood serum QTL GWAS1939571 (human)1e-16level of 17-beta-hydroxysteroid dehydrogenase 14 in blood serum194897219548972196Human
628845615GWAS2753844_Hhuman Chorionic Gonadotropin measurement QTL GWAS2753844 (human)3e-12chorionic gonadotropin secretion trait (VT:0010412)194898803748988038Human
628705708GWAS2613937_Hprotein FAM3D measurement QTL GWAS2613937 (human)1e-12protein FAM3D measurement194897219548972196Human
617197648GWAS2178088_H17-beta-hydroxysteroid dehydrogenase 14 measurement QTL GWAS2178088 (human)1e-1617-beta-hydroxysteroid dehydrogenase 14 measurement194897219548972196Human
628541485GWAS2449714_Hdickkopf-like protein 1 measurement QTL GWAS2449714 (human)5e-31dickkopf-like protein 1 measurement194897261948972620Human
617115444GWAS2132943_Hprotein FAM3D measurement QTL GWAS2132943 (human)1e-12protein FAM3D measurement194897219548972196Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
406959900GWAS608876_Hplatelet count QTL GWAS608876 (human)2e-08platelet count194897798648977987Human
616540577GWAS1937160_Hprotein FAM3D measurement QTL GWAS1937160 (human)1e-12protein FAM3D measurement194897219548972196Human

Markers in Region
GYS1_7799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,471,289 - 49,472,178UniSTSGRCh37
Build 361954,163,101 - 54,163,990RGDNCBI36
Celera1946,338,639 - 46,339,528RGD
HuRef1945,848,204 - 45,849,093UniSTS
D19S987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,472,221 - 49,472,398UniSTSGRCh37
Build 361954,164,033 - 54,164,210RGDNCBI36
Celera1946,339,571 - 46,339,748RGD
Cytogenetic Map19q13.3UniSTS
HuRef1945,849,136 - 45,849,313UniSTS
Stanford-G3 RH Map192477.0UniSTS
NCBI RH Map19543.2UniSTS
GeneMap99-G3 RH Map192488.0UniSTS
GYS1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,485,605 - 49,486,017UniSTSGRCh37
Celera1946,352,936 - 46,353,348UniSTS
HuRef1945,862,309 - 45,862,721UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP313940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U08603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U32573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z33633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000263276   ⟹   ENSP00000263276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,968,130 - 48,993,310 (-)Ensembl
Ensembl Acc Id: ENST00000323798   ⟹   ENSP00000317904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,968,130 - 48,993,309 (-)Ensembl
Ensembl Acc Id: ENST00000457974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,987,194 - 48,993,283 (-)Ensembl
Ensembl Acc Id: ENST00000472004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,970,750 - 48,977,986 (-)Ensembl
Ensembl Acc Id: ENST00000484289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,981,431 - 48,985,474 (-)Ensembl
Ensembl Acc Id: ENST00000496048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,970,944 - 48,978,233 (-)Ensembl
Ensembl Acc Id: ENST00000594220   ⟹   ENSP00000470072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,970,283 - 48,970,709 (-)Ensembl
Ensembl Acc Id: ENST00000917525   ⟹   ENSP00000587584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,968,125 - 48,993,309 (-)Ensembl
Ensembl Acc Id: ENST00000917526   ⟹   ENSP00000587585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,968,126 - 48,993,254 (-)Ensembl
Ensembl Acc Id: ENST00000960031   ⟹   ENSP00000630090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,968,135 - 48,993,337 (-)Ensembl
Ensembl Acc Id: ENST00000960032   ⟹   ENSP00000630091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,968,135 - 48,993,307 (-)Ensembl
Ensembl Acc Id: ENST00000960033   ⟹   ENSP00000630092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,968,132 - 48,993,254 (-)Ensembl
RefSeq Acc Id: NM_001161587   ⟹   NP_001155059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,968,130 - 48,993,309 (-)NCBI
GRCh371949,471,382 - 49,496,610 (-)ENTREZGENE
HuRef1945,848,297 - 45,873,316 (-)ENTREZGENE
CHM1_11949,473,588 - 49,498,839 (-)NCBI
T2T-CHM13v2.01951,963,010 - 51,988,208 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002103   ⟹   NP_002094
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,968,130 - 48,993,309 (-)NCBI
GRCh371949,471,382 - 49,496,610 (-)ENTREZGENE
Build 361954,163,194 - 54,188,361 (-)NCBI Archive
HuRef1945,848,297 - 45,873,316 (-)ENTREZGENE
CHM1_11949,473,588 - 49,498,839 (-)NCBI
T2T-CHM13v2.01951,963,010 - 51,988,208 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027763
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,968,130 - 48,993,309 (-)NCBI
GRCh371949,471,382 - 49,496,610 (-)ENTREZGENE
HuRef1945,848,297 - 45,873,316 (-)ENTREZGENE
CHM1_11949,473,588 - 49,498,839 (-)NCBI
T2T-CHM13v2.01951,963,010 - 51,988,208 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001155059   ⟸   NM_001161587
- Peptide Label: isoform 2
- UniProtKB: A8K6K7 (UniProtKB/TrEMBL),   Q53ER0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002094   ⟸   NM_002103
- Peptide Label: isoform 1
- UniProtKB: Q9BTT9 (UniProtKB/Swiss-Prot),   P13807 (UniProtKB/Swiss-Prot),   A8K6K7 (UniProtKB/TrEMBL),   Q53ER0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000317904   ⟸   ENST00000323798
Ensembl Acc Id: ENSP00000263276   ⟸   ENST00000263276
Ensembl Acc Id: ENSP00000470072   ⟸   ENST00000594220
Ensembl Acc Id: ENSP00000630090   ⟸   ENST00000960031
Ensembl Acc Id: ENSP00000587584   ⟸   ENST00000917525
Ensembl Acc Id: ENSP00000587585   ⟸   ENST00000917526
Ensembl Acc Id: ENSP00000630091   ⟸   ENST00000960032
Ensembl Acc Id: ENSP00000630092   ⟸   ENST00000960033

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13807-F1-model_v2 AlphaFold P13807 1-737 view protein structure

Promoters
RGD ID:13205045
Promoter ID:EPDNEW_H26103
Type:initiation region
Name:GYS1_1
Description:glycogen synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,993,309 - 48,993,369EPDNEW
RGD ID:6811600
Promoter ID:HG_ACW:42211
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:GYS1.HAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,165,941 - 54,166,441 (-)MPROMDB
RGD ID:6796114
Promoter ID:HG_KWN:30496
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006666,   NR_027763,   OTTHUMT00000319791,   OTTHUMT00000319795,   UC002PLQ.1,   UC002PLS.1,   UC010EMM.1,   UC010EMN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,187,541 - 54,189,067 (+)MPROMDB
RGD ID:6853346
Promoter ID:EP74498
Type:initiation region
Name:HS_GYS1
Description:Glycogen synthase 1 (muscle).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,188,345 - 54,188,405EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4706 AgrOrtholog
COSMIC GYS1 COSMIC
Ensembl Genes ENSG00000104812 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263276 ENTREZGENE
  ENST00000263276.6 UniProtKB/Swiss-Prot
  ENST00000323798 ENTREZGENE
  ENST00000323798.8 UniProtKB/Swiss-Prot
Gene3D-CATH Glycogen Phosphorylase B UniProtKB/Swiss-Prot
GTEx ENSG00000104812 GTEx
HGNC ID HGNC:4706 ENTREZGENE
Human Proteome Map GYS1 Human Proteome Map
InterPro Glycogen_synth UniProtKB/Swiss-Prot
KEGG Report hsa:2997 UniProtKB/Swiss-Prot
NCBI Gene 2997 ENTREZGENE
OMIM 138570 OMIM
PANTHER GLYCOGEN [STARCH] SYNTHASE, MUSCLE UniProtKB/Swiss-Prot
  PTHR10176 UniProtKB/Swiss-Prot
Pfam Glycogen_syn UniProtKB/Swiss-Prot
PharmGKB PA29084 PharmGKB
Superfamily-SCOP UDP-Glycosyltransferase/glycogen phosphorylase UniProtKB/Swiss-Prot
UniProt A8K6K7 ENTREZGENE, UniProtKB/TrEMBL
  GYS1_HUMAN UniProtKB/Swiss-Prot
  M0QYU1_HUMAN UniProtKB/TrEMBL
  P13807 ENTREZGENE
  Q53ER0 ENTREZGENE, UniProtKB/TrEMBL
  Q9BTT9 ENTREZGENE
UniProt Secondary Q9BTT9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 GYS1  glycogen synthase 1    glycogen synthase 1 (muscle)  Symbol and/or name change 5135510 APPROVED