GNAS (GNAS complex locus) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: GNAS (GNAS complex locus) Homo sapiens
Analyze
Symbol: GNAS
Name: GNAS complex locus
RGD ID: 736916
HGNC Page HGNC:4392
Description: Enables D1 dopamine receptor binding activity; G protein activity; and adenylate cyclase regulator activity. Involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; hair follicle placode formation; and platelet aggregation. Located in several cellular components, including cytosol; perinuclear region of cytoplasm; and trans-Golgi network membrane. Is active in cytoplasm. Implicated in several diseases, including ACTH-independent macronodular adrenal hyperplasia 1; McCune Albright syndrome; pituitary adenoma 3; progressive osseous heteroplasia; and pseudohypoparathyroidism (multiple). Biomarker of Alzheimer's disease; pancreatic cancer; and pseudohypoparathyroidism type 1B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenylate cyclase-stimulating G alpha protein; AHO; AIMAH1; ALEX; alternative gene product encoded by XL-exon; C20orf45; dJ309F20.1.1; dJ806M20.3.3; extra large alphas protein; G protein subunit alpha S; GNAS1; GPSA; GSA; GSP; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; guanine nucleotide regulatory protein; guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; MGC33735; NESP; NESP55; neuroendocrine secretory protein; PHP1A; PHP1B; PHP1C; PITA3; POH; SCG6; secretogranin VI; SgVI
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW184_H BW169_H BW175_H BW180_H BW172_H BW170_H BW183_H BW179_H BW186_H BW174_H BW176_H BW182_H BW185_H BW181_H BW171_H BW187_H BW173_H BW305_H BW312_H BW311_H BW306_H BW177_H BW178_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382058,839,748 - 58,911,192 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2058,839,718 - 58,911,192 (+)Ensemblhg38GRCh38
GRCh372057,414,803 - 57,486,247 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362056,848,190 - 56,919,645 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342056,900,129 - 56,919,640NCBI
Celera2054,155,257 - 54,226,691 (+)NCBICelera
Cytogenetic Map20q13.32NCBI
HuRef2054,201,757 - 54,273,094 (+)NCBIHuRef
CHM1_12057,316,685 - 57,387,667 (+)NCBICHM1_1
T2T-CHM13v2.02060,622,888 - 60,694,319 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
acromegaly  (EXP)
ACTH-independent macronodular adrenal hyperplasia  (IAGP)
ACTH-independent macronodular adrenal hyperplasia 1  (EXP,IAGP)
Adrenal Gland Neoplasms  (EXP)
Alzheimer's disease  (IEP)
amyotrophic lateral sclerosis type 8  (IAGP)
B-Cell Chronic Lymphocytic Leukemia  (IAGP)
brachydactyly  (EXP)
Cafe-au-Lait Spots  (EXP)
cholangiocarcinoma  (EXP,IAGP)
Cushing Syndrome  (IAGP)
Duane retraction syndrome  (IAGP)
endocrine system disease  (EXP)
Gallstones  (EXP)
genetic disease  (IAGP)
growth hormone secreting pituitary adenoma  (EXP)
hemorrhagic disease  (EXP)
hereditary spastic paraplegia 4  (IAGP)
Heterotopic Ossification  (EXP)
hypertension  (EXP,IAGP,IEA)
Hypoxia  (EXP)
Insulin Resistance  (EXP)
intellectual disability  (EXP,IAGP)
McCune Albright syndrome  (EXP,IAGP)
Metabolic Bone Diseases  (IAGP)
neuroblastoma  (EXP)
obesity  (EXP,IAGP)
Orthostatic Hypotension  (IAGP)
pancreatic cancer  (IEP)
Parasitic Liver Diseases  (EXP)
pituitary adenoma 3  (IAGP)
Pituitary Neoplasms  (IAGP)
polycystic kidney disease  (ISO)
polycystic ovary syndrome  (EXP)
Precocious Puberty  (EXP)
primary hyperaldosteronism  (IAGP)
progressive osseous heteroplasia  (EXP,IAGP)
pseudohypoaldosteronism  (EXP)
pseudohypoparathyroidism  (EXP,IAGP,IDA,ISS)
pseudohypoparathyroidism type 1A  (IAGP,ISS)
pseudohypoparathyroidism type 1B  (IAGP,IDA,IEP)
pseudohypoparathyroidism type 1C  (IAGP)
pseudopseudohypoparathyroidism  (EXP,IAGP,ISS)
Respiration Disorders  (EXP)
schizophrenia  (ISS)
sex cord-gonadal stromal tumor  (IAGP)
Tachycardia  (EXP)
withdrawal disorder  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-noradrenaline  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,5-dichlorophenol  (EXP)
2,6-dimethoxyphenol  (EXP)
3',5'-cyclic AMP  (EXP,ISO)
3,3'-diindolylmethane  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (EXP)
5-(hydroxymethyl)cytosine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
alpha-pinene  (EXP)
alprenolol  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
bathocuproine disulfonic acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisoprolol  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
butanal  (EXP)
caffeine  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carvedilol  (EXP,ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP)
cicaprost  (EXP)
cisplatin  (EXP)
citronellal  (EXP)
clozapine  (EXP,ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (ISO)
Cuprizon  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diclofenac  (EXP)
dieldrin  (ISO)
dioxygen  (EXP,ISO)
dobutamine  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
finasteride  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
fumonisin B1  (ISO)
furfural  (EXP)
genistein  (ISO)
guanosine 5'-[gamma-thio]triphosphate  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP,ISO)
ICI 118551  (EXP,ISO)
indometacin  (ISO)
isoprenaline  (EXP,ISO)
ivermectin  (EXP)
lead(0)  (EXP,ISO)
lipopolysaccharide  (EXP)
mercury dibromide  (EXP)
Mesaconitine  (ISO)
methiothepin  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
morphine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
oleanolic acid  (ISO)
ozone  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentobarbital  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenanthrene  (EXP)
phencyclidine  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chloride  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propranolol  (EXP,ISO)
propylparaben  (EXP)
pyrrolidine dithiocarbamate  (EXP)
reserpine  (ISO)
resveratrol  (ISO)
sarin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
serotonin  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
Soman  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
terbutaline  (ISO)
tert-butyl hydroperoxide  (EXP)
thapsigargin  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
tunicamycin  (ISO)
U-73122  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc sulfate  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of adenylate cyclase activity  (TAS)
adenylate cyclase-activating adrenergic receptor signaling pathway  (IDA)
adenylate cyclase-activating dopamine receptor signaling pathway  (IBA,ISO,ISS)
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IDA,IMP,ISO,NAS)
adenylate cyclase-activating serotonin receptor signaling pathway  (IDA)
bone development  (IDA,IMP)
cartilage development  (ISO)
cellular response to acidic pH  (IDA)
cellular response to catecholamine stimulus  (ISS)
cellular response to glucagon stimulus  (TAS)
cellular response to prostaglandin E stimulus  (ISS)
cognition  (IDA,IMP)
developmental growth  (IDA,IMP)
embryonic cranial skeleton morphogenesis  (ISO)
embryonic hindlimb morphogenesis  (ISO)
endochondral ossification  (ISO)
energy reserve metabolic process  (ISO)
female pregnancy  (NAS)
G protein-coupled receptor signaling pathway  (IEA,ISO,TAS)
genomic imprinting  (ISO)
hair follicle placode formation  (IDA,IMP)
multicellular organism growth  (ISO)
negative regulation of blood pressure  (ISO)
negative regulation of inflammatory response to antigenic stimulus  (TAS)
negative regulation of multicellular organism growth  (ISS)
platelet aggregation  (IDA,IMP)
positive regulation of cell population proliferation  (ISO)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of insulin secretion  (ISO)
positive regulation of osteoblast differentiation  (ISO)
positive regulation of osteoclast differentiation  (ISO)
positive regulation of phagocytosis  (IDA)
positive regulation of protein phosphorylation  (ISO)
positive regulation of sodium ion transport  (ISO)
post-embryonic body morphogenesis  (ISO)
post-embryonic development  (ISO)
protein secretion  (NAS)
regulation of insulin secretion  (TAS)
regulation of parathyroid hormone secretion  (ISO)
regulation of signal transduction  (IMP)
regulation of skeletal muscle contraction  (IDA)
regulation of transcription by RNA polymerase II  (ISO)
renal water homeostasis  (TAS)
response to parathyroid hormone  (IEA,IMP)
response to prostaglandin E  (IDA)
response to xenobiotic stimulus  (ISO)
sensory perception of chemical stimulus  (IBA)
sensory perception of smell  (TAS)
signal transduction  (IEA)
skeletal system development  (ISO)
skin development  (ISO)
tissue homeostasis  (ISO)
vascular endothelial cell response to laminar fluid shear stress  (TAS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal obesity  (IAGP)
Abdominal symptom  (IAGP)
Abnormal circulating aldosterone concentration  (IAGP)
Abnormal circulating renin concentration  (IAGP)
Abnormal endocrine physiology  (IAGP)
Abnormal facial skeleton morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal libido  (IAGP)
Abnormal platelet function  (IAGP)
Abnormal response to corticotropin releasing hormone stimulation test  (IAGP)
Abnormal sexual behavior  (IAGP)
Abnormal skull base morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the parathyroid gland  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Accelerated skeletal maturation  (IAGP)
Acne  (IAGP)
Acral overgrowth  (IAGP)
Adrenal hyperplasia  (IAGP)
Adult onset  (IAGP)
Agitation  (IAGP)
Alopecia  (IAGP)
Aneurysmal bone cyst  (IAGP)
Ankylosis  (IAGP)
Anxiety  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Band keratopathy  (IAGP)
Basal ganglia calcification  (IAGP)
Benign gastrointestinal tract tumors  (IAGP)
Blindness  (IAGP)
Bone fracture  (IAGP)
Bone marrow hypocellularity  (IAGP)
Bone pain  (IAGP)
Brachydactyly  (IAGP)
Breast carcinoma  (IAGP)
Broad 1st metacarpal  (IAGP)
Broad distal phalanx of the thumb  (IAGP)
Bruising susceptibility  (IAGP)
Calcinosis  (IAGP)
Cataract  (IAGP)
Cerebral calcification  (IAGP)
Chest pain  (IAGP)
Cholestasis  (IAGP)
Choreoathetosis  (IAGP)
Choroid plexus calcification  (IAGP)
Cognitive impairment  (IAGP)
Confusion  (IAGP)
Conjunctivitis  (IAGP)
Constrictive median neuropathy  (IAGP)
Cortical subperiosteal resorption of humeral metaphyses  (IAGP)
Craniofacial hyperostosis  (IAGP)
Cutaneous myxoma  (IAGP)
Decreased circulating ACTH concentration  (IAGP)
Decreased fertility  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Diaphyseal sclerosis  (IAGP)
Dorsocervical fat pad  (IAGP)
Duane anomaly  (IAGP)
Dyskinesia  (IAGP)
Dyspnea  (IAGP)
Ectopic calcification  (IAGP)
Ectopic ossification  (IAGP)
Ectopic ossification in muscle tissue  (IAGP)
Elevated circulating calcitonin concentration  (IAGP)
Elevated circulating growth hormone concentration  (IAGP)
Elevated circulating parathyroid hormone level  (IAGP)
Elevated circulating thyroid-stimulating hormone concentration  (IAGP)
Emotional lability  (IAGP)
Enamel hypoplasia  (IAGP)
Esophageal atresia  (IAGP)
Facial asymmetry  (IAGP)
Fibrous dysplasia of the bones  (IAGP)
Full cheeks  (IAGP)
Gastroesophageal reflux  (IAGP)
Glucose intolerance  (IAGP)
Goiter  (IAGP)
Growth abnormality  (IAGP)
Hearing impairment  (IAGP)
Hepatic steatosis  (IAGP)
Hepatitis  (IAGP)
Hepatocellular adenoma  (IAGP)
Hirsutism  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperlipidemia  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperostosis frontalis interna  (IAGP)
Hyperparathyroidism  (IAGP)
Hyperphosphatemia  (IAGP)
Hyperphosphaturia  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperplasia of the Leydig cells  (IAGP)
Hypertension  (IAGP)
Hyperthyroidism  (IAGP)
Hypocalcemia  (IAGP)
Hypocalcemic seizures  (IAGP)
Hypocalcemic tetany  (IAGP)
Hypogonadism  (IAGP)
Hypophosphatemia  (IAGP)
Hyporeflexia  (IAGP)
Hypothyroidism  (IAGP)
Increased body weight  (IAGP)
Increased bone density with cystic changes  (IAGP)
Increased bone mineral density  (IAGP)
Increased circulating ACTH level  (IAGP)
Increased circulating aldosterone concentration  (IAGP)
Increased circulating cortisol level  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Increased serum testosterone level  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased urinary cortisol level  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intestinal polyposis  (IAGP)
Intrauterine growth retardation  (IAGP)
Involuntary movements  (IAGP)
Irregular menstruation  (IAGP)
Irritability  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Large cafe-au-lait macules with irregular margins  (IAGP)
Laryngeal dystonia  (IAGP)
Limb undergrowth  (IAGP)
Limitation of joint mobility  (IAGP)
Low urinary cyclic AMP response to PTH administration  (IAGP)
Macronodular adrenal hyperplasia  (IAGP)
Macroorchidism  (IAGP)
Macule  (IAGP)
Mania  (IAGP)
Memory impairment  (IAGP)
Meningioma  (IAGP)
Mental deterioration  (IAGP)
Monostotic fibrous dysplasia  (IAGP)
Moon facies  (IAGP)
Muscle spasm  (IAGP)
Myoclonic spasms  (IAGP)
Nasal congestion  (IAGP)
Neoplasm  (IAGP)
Nephrolithiasis  (IAGP)
Neuroendocrine neoplasm  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Oligomenorrhea  (IAGP)
Osteoarthritis  (IAGP)
Osteoma cutis  (IAGP)
Osteomalacia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Ovarian cyst  (IAGP)
Pancreatic intraductal papillary mucinous neoplasm  (IAGP)
Pancreatitis  (IAGP)
Pancytopenia  (IAGP)
Papule  (IAGP)
Paradoxical increased cortisol secretion on dexamethasone suppression test  (IAGP)
Paresthesia  (IAGP)
Pathologic fracture  (IAGP)
Pituitary adenoma  (IAGP)
Pituitary corticotropic cell adenoma  (IAGP)
Pituitary growth hormone cell adenoma  (IAGP)
Pituitary resistance to thyroid hormone  (IAGP)
Plethora  (IAGP)
Polyostotic fibrous dysplasia  (IAGP)
Polyphagia  (IAGP)
Precocious puberty  (IAGP)
Premature thelarche  (IAGP)
Primary hypercortisolism  (IAGP)
Primary hyperparathyroidism  (IAGP)
Progressive  (IAGP)
Prolonged QT interval  (IAGP)
Proximal amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Pseudohypoparathyroidism  (IAGP)
Psychosis  (IAGP)
Psychotic episodes  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced circulating prolactin concentration  (IAGP)
Renal cell carcinoma  (IAGP)
Renal phosphate wasting  (IAGP)
Renal tubular dysfunction  (IAGP)
Round face  (IAGP)
Sarcoma  (IAGP)
Sclerotic ilium  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 3rd metacarpal  (IAGP)
Short 4th metacarpal  (IAGP)
Short 5th finger  (IAGP)
Short 5th metacarpal  (IAGP)
Short distal phalanx of the 3rd finger  (IAGP)
Short distal phalanx of the thumb  (IAGP)
Short fifth metatarsal  (IAGP)
Short finger  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Skeletal dysplasia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spinal cord compression  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Striae distensae  (IAGP)
Subcutaneous nodule  (IAGP)
Subcutaneous ossification  (IAGP)
Tetany  (IAGP)
Thickened calvaria  (IAGP)
Thin skin  (IAGP)
Truncal obesity  (IAGP)
Typified by somatic mosaicism  (IAGP)
Visual loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Association of GNAS1 gene variant with hypertension depending on smoking status. Abe M, etal., Hypertension. 2002 Sep;40(3):261-5.
2. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. Ahrens W, etal., J Clin Endocrinol Metab. 2001 Oct;86(10):4630-4.
3. GNAS locus and pseudohypoparathyroidism. Bastepe M and Juppner H, Horm Res. 2005;63(2):65-74. Epub 2005 Feb 9.
4. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
5. Physiology and pathophysiology of the vasopressin-regulated renal water reabsorption. Boone M and Deen PM, Pflugers Arch. 2008 Sep;456(6):1005-24. Epub 2008 Apr 23.
6. The melanocortin system in control of inflammation. Catania A, etal., ScientificWorldJournal. 2010 Sep 14;10:1840-53.
7. Alterations in hepatic glucagon receptor density and in Gsalpha and Gialpha2 protein content with diet-induced hepatic steatosis: effects of acute exercise. Charbonneau A, etal., Am J Physiol Endocrinol Metab. 2005 Jul;289(1):E8-14. Epub 2005 Feb 1.
8. Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. de Sanctis L, etal., J Clin Endocrinol Metab. 2004 Apr;89(4):1650-5.
9. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. De Sanctis L, etal., Pediatr Res. 2003 May;53(5):749-55. Epub 2003 Mar 5.
10. Beta-adrenergic stimulation and myocardial function in the failing heart. El-Armouche A and Eschenhagen T, Heart Fail Rev. 2009 Dec;14(4):225-41.
11. Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. Fragoso MC, etal., J Clin Endocrinol Metab. 2003 May;88(5):2147-51.
12. GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets. Freson K, etal., J Clin Endocrinol Metab. 2008 Dec;93(12):4851-9. doi: 10.1210/jc.2008-0883. Epub 2008 Sep 23.
13. The GNAS1 T393C polymorphism is associated with disease progression and survival in chronic lymphocytic leukemia. Frey UH, etal., Clin Cancer Res. 2006 Oct 1;12(19):5686-92.
14. The CC genotype of the GNAS T393C polymorphism is associated with obesity and insulin resistance in women with polycystic ovary syndrome. Hahn S, etal., Eur J Endocrinol. 2006 Nov;155(5):763-70.
15. The molecular mechanisms underlying the regulation of the biological activity of corticotropin-releasing hormone receptors: implications for physiology and pathophysiology. Hillhouse EW and Grammatopoulos DK, Endocr Rev. 2006 May;27(3):260-86. Epub 2006 Feb 16.
16. Science review: Vasopressin and the cardiovascular system part 1--receptor physiology. Holmes CL, etal., Crit Care. 2003 Dec;7(6):427-34. Epub 2003 Jun 26.
17. Live cell imaging of Gs and the beta2-adrenergic receptor demonstrates that both alphas and beta1gamma7 internalize upon stimulation and exhibit similar trafficking patterns that differ from that of the beta2-adrenergic receptor. Hynes TR, etal., J Biol Chem. 2004 Oct 15;279(42):44101-12. Epub 2004 Aug 5.
18. NESP55, a novel chromogranin-like peptide, is expressed in endocrine tumours of the pancreas and adrenal medulla but not in ileal carcinoids. Jakobsen AM, etal., Br J Cancer. 2003 Jun 2;88(11):1746-54.
19. Angiotensin II regulates V2 receptor and pAQP2 during ureteral obstruction. Jensen AM, etal., Am J Physiol Renal Physiol. 2009 Jan;296(1):F127-34. Epub 2008 Oct 29.
20. Indomethacin enhances shuttling of aquaporin-2 despite decreased abundance in rat kidney. Kim SW, etal., J Am Soc Nephrol. 2004 Dec;15(12):2998-3005.
21. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Landis CA, etal., Nature. 1989 Aug 31;340(6236):692-6.
22. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Liu J, etal., Hum Mol Genet. 2005 Jan 1;14(1):95-102. Epub 2004 Nov 10.
23. Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. Mantovani G, etal., J Clin Endocrinol Metab. 2000 Nov;85(11):4243-8.
24. Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors. Mantovani G, etal., J Clin Endocrinol Metab. 2004 Jun;89(6):3007-9.
25. TGR5 contributes to hepatic cystogenesis in rodents with polycystic liver diseases through cyclic adenosine monophosphate/Gαs signaling. Masyuk TV, etal., Hepatology. 2017 Oct;66(4):1197-1218. doi: 10.1002/hep.29284. Epub 2017 Aug 26.
26. Glucagon-mediated internalization of serine-phosphorylated glucagon receptor and Gsalpha in rat liver. Merlen C, etal., FEBS Lett. 2006 Oct 16;580(24):5697-704. Epub 2006 Sep 20.
27. Regionally selective alterations in G protein subunit levels in the Alzheimer's disease brain. O'Neill C, etal., Brain Res. 1994 Feb 14;636(2):193-201.
28. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
29. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
30. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
31. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
32. Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. Rey RA, etal., Hum Mol Genet. 2006 Dec 15;15(24):3538-43. Epub 2006 Nov 13.
33. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
34. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
35. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
36. A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. Richard N, etal., J Clin Endocrinol Metab. 2012 May;97(5):E863-7. doi: 10.1210/jc.2011-2804. Epub 2012 Feb 29.
37. Activating GNAS1 gene mutations in patients with premature thelarche. Roman R, etal., J Pediatr. 2004 Aug;145(2):218-22.
38. Physiological roles for G protein-regulated adenylyl cyclase isoforms: insights from knockout and overexpression studies. Sadana R and Dessauer CW, Neurosignals. 2009;17(1):5-22. Epub 2008 Oct 24.
39. GNAS1 T393C polymorphism is associated with clinical course in patients with intrahepatic cholangiocarcinoma. Schmitz KJ, etal., Neoplasia. 2007 Feb;9(2):159-65.
40. Polymorphisms of genes encoding components of the sympathetic nervous system but not the renin-angiotensin system as risk factors for orthostatic hypotension. Tabara Y, etal., J Hypertens. 2002 Apr;20(4):651-6.
41. Gs(alpha) mutations and imprinting defects in human disease. Weinstein LS, etal., Ann N Y Acad Sci. 2002 Jun;968:173-97.
42. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Weinstein LS, etal., Proc Natl Acad Sci U S A. 1990 Nov;87(21):8287-90.
43. Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. Yu D, etal., J Clin Endocrinol Metab. 1999 Sep;84(9):3254-9.
Additional References at PubMed
PMID:1505964   PMID:1594625   PMID:1716359   PMID:1769666   PMID:1908089   PMID:1944469   PMID:2109828   PMID:3018580   PMID:3024154   PMID:3093273   PMID:3127824   PMID:3131741  
PMID:7523385   PMID:7737262   PMID:7739708   PMID:7751320   PMID:7797570   PMID:7815417   PMID:7997272   PMID:8011597   PMID:8037842   PMID:8072545   PMID:8125298   PMID:8126161  
PMID:8388883   PMID:8552586   PMID:8621513   PMID:8663226   PMID:8702665   PMID:8766942   PMID:8943324   PMID:9111083   PMID:9159128   PMID:9228084   PMID:9267696   PMID:9268375  
PMID:9328353   PMID:9417641   PMID:9506752   PMID:9525885   PMID:9603210   PMID:9626141   PMID:9647645   PMID:9707596   PMID:9727013   PMID:9794454   PMID:9860993   PMID:9876352  
PMID:9914489   PMID:10190480   PMID:10200251   PMID:10493819   PMID:10521440   PMID:10571700   PMID:10598591   PMID:10729789   PMID:10737800   PMID:10749992   PMID:10931851   PMID:11185568  
PMID:11241472   PMID:11256614   PMID:11294873   PMID:11297617   PMID:11447126   PMID:11450852   PMID:11583302   PMID:11583900   PMID:11600515   PMID:11729322   PMID:11779226   PMID:11780052  
PMID:11784876   PMID:11812005   PMID:11836449   PMID:11895442   PMID:11916537   PMID:11926205   PMID:11968001   PMID:12024004   PMID:12030931   PMID:12036966   PMID:12106601   PMID:12116190  
PMID:12147228   PMID:12199346   PMID:12364467   PMID:12374764   PMID:12391161   PMID:12477932   PMID:12605446   PMID:12619926   PMID:12624854   PMID:12626323   PMID:12652642   PMID:12656668  
PMID:12665801   PMID:12672054   PMID:12719376   PMID:12748287   PMID:12749029   PMID:12756386   PMID:12858292   PMID:12862199   PMID:12970263   PMID:12970307   PMID:12970318   PMID:13678786  
PMID:14500986   PMID:14561710   PMID:14694347   PMID:14702039   PMID:14991457   PMID:15053924   PMID:15112914   PMID:15126527   PMID:15146197   PMID:15147378   PMID:15148396   PMID:15234971  
PMID:15242332   PMID:15361543   PMID:15368366   PMID:15479166   PMID:15489334   PMID:15531240   PMID:15564881   PMID:15592469   PMID:15701569   PMID:15782186   PMID:15824158   PMID:15840729  
PMID:15894831   PMID:16004878   PMID:16033819   PMID:16081638   PMID:16110341   PMID:16114876   PMID:16210433   PMID:16293724   PMID:16315032   PMID:16344560   PMID:16352729   PMID:16406317  
PMID:16442859   PMID:16460020   PMID:16467086   PMID:16484323   PMID:16575178   PMID:16789620   PMID:16789627   PMID:16789628   PMID:16789629   PMID:16789633   PMID:16876683   PMID:17008315  
PMID:17045734   PMID:17110384   PMID:17161328   PMID:17164301   PMID:17186357   PMID:17207965   PMID:17353931   PMID:17388805   PMID:17427647   PMID:17514647   PMID:17566083   PMID:17594522  
PMID:17595244   PMID:17652219   PMID:17672918   PMID:17803690   PMID:17937059   PMID:17962410   PMID:17982384   PMID:17982386   PMID:17991745   PMID:18006055   PMID:18038328   PMID:18070145  
PMID:18075835   PMID:18181202   PMID:18182455   PMID:18184921   PMID:18192900   PMID:18240029   PMID:18258741   PMID:18347176   PMID:18354007   PMID:18362425   PMID:18367996   PMID:18451148  
PMID:18553568   PMID:18597624   PMID:18634020   PMID:18642089   PMID:18694911   PMID:18697996   PMID:18700313   PMID:18755267   PMID:18806481   PMID:18948082   PMID:18951142   PMID:19029774  
PMID:19029852   PMID:19073398   PMID:19136681   PMID:19169048   PMID:19189654   PMID:19199708   PMID:19237173   PMID:19243996   PMID:19274060   PMID:19287459   PMID:19351817   PMID:19381065  
PMID:19381884   PMID:19412439   PMID:19429701   PMID:19449667   PMID:19494712   PMID:19513951   PMID:19542315   PMID:19550078   PMID:19575869   PMID:19593725   PMID:19826830   PMID:19856255  
PMID:19858129   PMID:19874199   PMID:19913121   PMID:19942373   PMID:19946888   PMID:19948975   PMID:20008020   PMID:20015054   PMID:20023040   PMID:20027678   PMID:20061437   PMID:20119640  
PMID:20133939   PMID:20150876   PMID:20195357   PMID:20201926   PMID:20203101   PMID:20336923   PMID:20346714   PMID:20360068   PMID:20374964   PMID:20398730   PMID:20427508   PMID:20443919  
PMID:20458337   PMID:20459687   PMID:20467437   PMID:20468064   PMID:20531296   PMID:20537689   PMID:20565774   PMID:20628086   PMID:20689139   PMID:20803660   PMID:20804925   PMID:20852621  
PMID:20862257   PMID:20887824   PMID:20972248   PMID:20979189   PMID:21125662   PMID:21156401   PMID:21169072   PMID:21184583   PMID:21186955   PMID:21308712   PMID:21340746   PMID:21351142  
PMID:21387769   PMID:21488135   PMID:21521295   PMID:21523828   PMID:21554434   PMID:21584660   PMID:21622536   PMID:21664251   PMID:21677417   PMID:21710407   PMID:21726808   PMID:21737952  
PMID:21773967   PMID:21775669   PMID:21835143   PMID:21836370   PMID:21873635   PMID:21890629   PMID:21909110   PMID:21909115   PMID:21910239   PMID:21924916   PMID:21988832   PMID:22177524  
PMID:22200434   PMID:22245114   PMID:22259056   PMID:22277900   PMID:22355676   PMID:22367301   PMID:22371153   PMID:22374786   PMID:22492776   PMID:22495359   PMID:22511293   PMID:22564667  
PMID:22593505   PMID:22679513   PMID:22797727   PMID:22833384   PMID:22859495   PMID:22875848   PMID:22931242   PMID:22939629   PMID:22954004   PMID:23034519   PMID:23065660   PMID:23095209  
PMID:23201296   PMID:23208952   PMID:23281139   PMID:23284784   PMID:23288882   PMID:23288949   PMID:23335286   PMID:23337932   PMID:23346880   PMID:23353685   PMID:23370769   PMID:23376485  
PMID:23403822   PMID:23412865   PMID:23498145   PMID:23503642   PMID:23532108   PMID:23533145   PMID:23533243   PMID:23548772   PMID:23752180   PMID:23753411   PMID:23796510   PMID:23798571  
PMID:23844573   PMID:23846778   PMID:23859711   PMID:23884777   PMID:23962387   PMID:23994616   PMID:24061513   PMID:24076664   PMID:24107509   PMID:24145653   PMID:24268734   PMID:24312577  
PMID:24412244   PMID:24423294   PMID:24470207   PMID:24498230   PMID:24525507   PMID:24525511   PMID:24711643   PMID:24741584   PMID:24755784   PMID:24758907   PMID:24789540   PMID:24795070  
PMID:24797263   PMID:24850831   PMID:24878042   PMID:24897499   PMID:24898823   PMID:24925222   PMID:24938521   PMID:24981860   PMID:24982418   PMID:24986238   PMID:25005734   PMID:25007176  
PMID:25150496   PMID:25192599   PMID:25219572   PMID:25241742   PMID:25241761   PMID:25269528   PMID:25288233   PMID:25476789   PMID:25479586   PMID:25487351   PMID:25530484   PMID:25558679  
PMID:25594858   PMID:25603460   PMID:25640309   PMID:25710380   PMID:25719192   PMID:25740075   PMID:25761574   PMID:25796395   PMID:25802348   PMID:25807286   PMID:25840541   PMID:25851935  
PMID:25852190   PMID:25867268   PMID:25882888   PMID:25894639   PMID:25921289   PMID:25952723   PMID:25997889   PMID:26160192   PMID:26186194   PMID:26248895   PMID:26257060   PMID:26272612  
PMID:26333472   PMID:26344197   PMID:26350188   PMID:26401884   PMID:26479409   PMID:26496610   PMID:26514267   PMID:26574629   PMID:26673895   PMID:26701869   PMID:26743443   PMID:26823173  
PMID:26871637   PMID:26972000   PMID:27034005   PMID:27058263   PMID:27072655   PMID:27077715   PMID:27120771   PMID:27154293   PMID:27330078   PMID:27362234   PMID:27377895   PMID:27428667  
PMID:27438523   PMID:27470510   PMID:27502722   PMID:27514845   PMID:27528603   PMID:27566546   PMID:27609421   PMID:27621449   PMID:27641811   PMID:27684187   PMID:27718288   PMID:27871293  
PMID:27885802   PMID:27895044   PMID:27994074   PMID:28043906   PMID:28051330   PMID:28084650   PMID:28108261   PMID:28160572   PMID:28164369   PMID:28216128   PMID:28258512   PMID:28285720  
PMID:28298427   PMID:28323910   PMID:28334704   PMID:28336329   PMID:28363951   PMID:28388416   PMID:28483487   PMID:28489964   PMID:28514442   PMID:28588314   PMID:28611215   PMID:28675297  
PMID:28711660   PMID:28776576   PMID:28810144   PMID:28830502   PMID:28883622   PMID:28890216   PMID:28939416   PMID:29056280   PMID:29059381   PMID:29072892   PMID:29117863   PMID:29179855  
PMID:29180619   PMID:29229926   PMID:29291784   PMID:29327289   PMID:29445425   PMID:29488004   PMID:29568061   PMID:29628140   PMID:29693731   PMID:29760048   PMID:29777862   PMID:29796909  
PMID:29909118   PMID:30024968   PMID:30060753   PMID:30111377   PMID:30194290   PMID:30204251   PMID:30209400   PMID:30312418   PMID:30365517   PMID:30442414   PMID:30442662   PMID:30443176  
PMID:30575818   PMID:30616679   PMID:30736805   PMID:30767161   PMID:30833792   PMID:30862715   PMID:30948266   PMID:31048545   PMID:31091453   PMID:31124412   PMID:31180492   PMID:31297884  
PMID:31315768   PMID:31324722   PMID:31374326   PMID:31501420   PMID:31546270   PMID:31578227   PMID:31586073   PMID:31696922   PMID:31726379   PMID:31796584   PMID:31860119   PMID:31871319  
PMID:31886927   PMID:31908022   PMID:31931092   PMID:31995728   PMID:31999703   PMID:32123532   PMID:32157680   PMID:32193322   PMID:32271406   PMID:32271425   PMID:32436958   PMID:32513696  
PMID:32531271   PMID:32628020   PMID:32687490   PMID:32700107   PMID:32707033   PMID:32747649   PMID:32762003   PMID:32780723   PMID:32807901   PMID:32814769   PMID:32866120   PMID:32877691  
PMID:32913203   PMID:32958754   PMID:33082481   PMID:33144569   PMID:33180333   PMID:33194618   PMID:33247854   PMID:33269569   PMID:33306668   PMID:33462405   PMID:33512531   PMID:33545068  
PMID:33571431   PMID:33571432   PMID:33618749   PMID:33677588   PMID:33729478   PMID:33752302   PMID:33920573   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34029697   PMID:34086670  
PMID:34110646   PMID:34285210   PMID:34349018   PMID:34520814   PMID:34587755   PMID:34591877   PMID:34614324   PMID:34620690   PMID:34709727   PMID:34791361   PMID:34994589   PMID:35012940  
PMID:35013218   PMID:35018527   PMID:35032548   PMID:35063084   PMID:35156780   PMID:35188590   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35384245   PMID:35446349   PMID:35509820  
PMID:35563538   PMID:35672467   PMID:35676659   PMID:35819319   PMID:35859320   PMID:35944360   PMID:36010623   PMID:36042349   PMID:36215168   PMID:36244648   PMID:36273042   PMID:36470425  
PMID:36490346   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36593655   PMID:36597993   PMID:36604567   PMID:36669868   PMID:36853809   PMID:36905238   PMID:36931259   PMID:36950384  
PMID:37132043   PMID:37167062   PMID:37267103   PMID:37317656   PMID:37575477   PMID:37616343   PMID:37827155   PMID:37828397   PMID:38097740   PMID:38113892   PMID:38117590   PMID:38172120  
PMID:38177924   PMID:38245923   PMID:38270169   PMID:38290008   PMID:38319157   PMID:38319286   PMID:38375634   PMID:38480881   PMID:38496616   PMID:38569033   PMID:38580884   PMID:38664677  
PMID:39043181   PMID:39305132   PMID:39753132   PMID:39884271   PMID:40437099  


Genomics

Comparative Map Data
GNAS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382058,839,748 - 58,911,192 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2058,839,718 - 58,911,192 (+)Ensemblhg38GRCh38
GRCh372057,414,803 - 57,486,247 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362056,848,190 - 56,919,645 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342056,900,129 - 56,919,640NCBI
Celera2054,155,257 - 54,226,691 (+)NCBICelera
Cytogenetic Map20q13.32NCBI
HuRef2054,201,757 - 54,273,094 (+)NCBIHuRef
CHM1_12057,316,685 - 57,387,667 (+)NCBICHM1_1
T2T-CHM13v2.02060,622,888 - 60,694,319 (+)NCBIT2T-CHM13v2.0
Gnas
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392174,126,113 - 174,188,537 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2174,126,113 - 174,188,537 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm382174,284,320 - 174,346,744 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2174,284,320 - 174,346,744 (+)Ensemblmm10GRCm38
MGSCv372174,109,821 - 174,172,245 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv362173,927,260 - 173,989,683 (+)NCBIMGSCv36mm8
Celera2180,249,319 - 180,306,988 (+)NCBICelera
Cytogenetic Map2H4NCBI
cM Map297.89NCBI
Gnas
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83183,489,648 - 183,554,570 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl3183,503,243 - 183,554,536 (+)EnsemblGRCr8
mRatBN7.23163,071,003 - 163,136,350 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3163,071,417 - 163,136,350 (+)EnsemblmRatBN7.2
mRatBN7.2 Ensembl3163,071,417 - 163,127,262 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx3166,870,185 - 166,935,111 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03175,366,829 - 175,431,728 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03173,111,029 - 173,175,955 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.03172,374,957 - 172,434,988 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3172,385,672 - 172,434,613 (+)Ensemblrn6Rnor6.0
Rnor_6.0 Ensembl3172,374,957 - 172,428,483 (+)Ensemblrn6Rnor6.0
Rnor_5.03178,439,178 - 178,490,287 (+)NCBIRnor_5.0Rnor_5.0rn5
Rnor_5.03178,426,255 - 178,427,409 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.43165,213,399 - 165,214,551 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera3162,244,932 - 162,311,413 (+)NCBICelera
Cytogenetic Map3q43NCBI
GNAS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22164,603,402 - 64,674,018 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12064,596,523 - 64,667,139 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02055,190,607 - 55,262,245 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12056,460,906 - 56,620,313 (+)NCBIPanPan1.1PanPan1.1panPan2
GNAS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12443,643,409 - 43,658,641 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2443,643,405 - 43,658,657 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2442,885,440 - 42,905,085 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02444,469,667 - 44,524,884 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2444,457,089 - 44,540,809 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12443,609,062 - 43,628,699 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02443,727,472 - 43,747,093 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02444,387,669 - 44,407,318 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
LOC101971027
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640181,895,749 - 181,952,790 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365301,353,841 - 1,354,575 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365301,353,432 - 1,407,437 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNAS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1758,998,981 - 59,053,021 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11758,985,580 - 59,053,022 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21766,303,970 - 66,356,738 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21766,408,660 - 66,423,431 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap17qNCBI
GNAS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.125,233,893 - 5,303,433 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl25,233,874 - 5,249,192 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605053,288,032 - 53,358,025 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gnas
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474125,183,329 - 25,196,880 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462474125,138,678 - 25,197,194 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in GNAS
1072 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000516.7(GNAS):c.891_905del (p.Glu299_Ala303del) deletion not provided [RCV000523258] Chr20:58910000..58910014 [GRCh38]
Chr20:57485055..57485069 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla) duplication not provided [RCV000968774]|not specified [RCV000121159] Chr20:58854444..58854445 [GRCh38]
Chr20:57429499..57429500 [GRCh37]
Chr20:20q13.32		 benign|not provided
GNAS, 36-BP DUP, ALA138ASP, PRO161ARG duplication Prolonged bleeding time, brachydactyly, and intellectual disability [RCV000017325] Chr20:20q13.2 uncertain significance
NM_000516.7(GNAS):c.839+1G>C single nucleotide variant Pseudohypoparathyroidism [RCV000017279]|Pseudopseudohypoparathyroidism [RCV000017280] Chr20:58909805 [GRCh38]
Chr20:57484860 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.725del (p.Thr242fs) deletion Progressive osseous heteroplasia [RCV000017283]|Pseudohypoparathyroidism [RCV000017281]|Pseudopseudohypoparathyroidism [RCV000017282] Chr20:58909690 [GRCh38]
Chr20:57484745 [GRCh37]
Chr20:20q13.32		 pathogenic
GNAS, IVS3AS, A-G, -12 single nucleotide variant Pseudohypoparathyroidism [RCV000017284] Chr20:20q13.2 pathogenic
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) deletion Disorders of GNAS Inactivation [RCV003389234]|GNAS-related disorder [RCV004532373]|Inborn genetic diseases [RCV003162254]|McCune-Albright syndrome [RCV002496387]|Progressive osseous heteroplasia [RCV000017301]|Pseudohypoparathyroidism [RCV000017300]|Pseudohypoparathyroidism type 1B [RCV001196108]|Pseudohypoparathyroidism type 1C [RCV003227604]|Pseudohypoparathyroidism type I A [RCV001731307]|Pseudopseudohypoparathyroidism [RCV000017302]|not provided [RCV001851884]|not specified [RCV000678707] Chr20:58909194..58909197 [GRCh38]
Chr20:57484249..57484252 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000516.7(GNAS):c.119_139+17del deletion Pseudohypoparathyroidism [RCV000017305]|Pseudopseudohypoparathyroidism [RCV000017304] Chr20:58891845..58891882 [GRCh38]
Chr20:57466900..57466937 [GRCh37]
Chr20:20q13.32		 pathogenic
GNAS, GLN170ALA variation Pseudopseudohypoparathyroidism [RCV000017308] Chr20:20q13.2 pathogenic
NM_000516.7(GNAS):c.617_618del (p.Gly206fs) deletion Pseudohypoparathyroidism [RCV000017312]|Pseudopseudohypoparathyroidism [RCV000017313] Chr20:58909381..58909382 [GRCh38]
Chr20:57484436..57484437 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.302_303del (p.Glu101fs) microsatellite Pseudohypoparathyroidism [RCV000017314]|Pseudopseudohypoparathyroidism [RCV000017315] Chr20:58903573..58903574 [GRCh38]
Chr20:57478628..57478629 [GRCh37]
Chr20:20q13.32		 pathogenic
GNAS, 1-BP DEL, 348C deletion Progressive osseous heteroplasia [RCV000017316]|Pseudohypoparathyroidism [RCV000017317] Chr20:20q13.2 pathogenic
NM_000516.7(GNAS):c.112del (p.Arg38fs) deletion Pseudohypoparathyroidism [RCV000017318]|Pseudopseudohypoparathyroidism [RCV000017319] Chr20:58891837 [GRCh38]
Chr20:57466892 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080426.4:c.818_819del deletion Pseudohypoparathyroidism [RCV000017320] Chr20:20q13.2 pathogenic
NM_080425.4:c.2789_2790del deletion Progressive osseous heteroplasia [RCV000017321] Chr20:20q13.2 pathogenic
GNAS, 4.7-KB DEL deletion Pseudohypoparathyroidism type 1B [RCV000017324] Chr20:20q13.2 pathogenic
GNAS, 3-BP DEL, CAT, EXON 13 deletion Pseudohypoparathyroidism type 1B [RCV000017326] Chr20:20q13.2 pathogenic
NM_000516.7(GNAS):c.254dup (p.Asp85fs) duplication Pseudohypoparathyroidism [RCV000017327] Chr20:58898981..58898982 [GRCh38]
Chr20:57474036..57474037 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr) duplication Pseudohypoparathyroidism [RCV000017328] Chr20:58910739..58910740 [GRCh38]
Chr20:57485794..57485795 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV000017329] Chr20:58910817 [GRCh38]
Chr20:57485872 [GRCh37]
Chr20:20q13.32		 pathogenic
NG_016194.2:g.[6012_6117gom;19440_19569lom] variation Pseudohypoparathyroidism type 1B [RCV000017330] Chr20:20q13.2 pathogenic
NM_000516.7(GNAS):c.-176G>T single nucleotide variant not provided [RCV000722940] Chr20:58891551 [GRCh38]
Chr20:57466606 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1150_1176dup (p.Ala392_Arg393insGlyAlaAlaSerAlaAspThrAlaAla) duplication not provided [RCV000722522] Chr20:58854411..58854412 [GRCh38]
Chr20:57429466..57429467 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1686C>T (p.Arg562=) single nucleotide variant GNAS-related disorder [RCV004540642]|not provided [RCV003324920] Chr20:58854951 [GRCh38]
Chr20:57430006 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) single nucleotide variant GNAS-related disorder [RCV004537885]|not provided [RCV000520886] Chr20:58909738 [GRCh38]
Chr20:57484793 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV000022597] Chr20:58910818 [GRCh38]
Chr20:57485873 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV000022598] Chr20:58910807 [GRCh38]
Chr20:57485862 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV000022599]|Pseudohypoparathyroidism type I A [RCV005234792]|not provided [RCV000174485] Chr20:58910818 [GRCh38]
Chr20:57485873 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.1A>G (p.Met1Val) single nucleotide variant Cushing syndrome [RCV000763448]|Pseudohypoparathyroidism [RCV000017278]|not provided [RCV000522303] Chr20:58891727 [GRCh38]
Chr20:57466782 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro) single nucleotide variant Pseudohypoparathyroidism [RCV000017285] Chr20:58903569 [GRCh38]
Chr20:57478624 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) single nucleotide variant Hereditary spastic paraplegia 4 [RCV001729350]|Pseudohypoparathyroidism [RCV000017286]|Pseudohypoparathyroidism type I A [RCV002288507]|not provided [RCV002054444] Chr20:58905443 [GRCh38]
Chr20:57480498 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558264]|McCune-Albright syndrome [RCV000017287]|Pituitary adenoma 3, multiple types [RCV000508635]|Pseudohypoparathyroidism type 1B [RCV004760335]|Sex cord-stromal tumor [RCV000017289]|not provided [RCV002513071] Chr20:58909365 [GRCh38]
Chr20:57484420 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|other
NM_000516.7(GNAS):c.602G>A (p.Arg201His) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558265]|Inborn genetic diseases [RCV004018636]|McCune-Albright syndrome [RCV000017290]|McCune-Albright syndrome [RCV005025061]|Pituitary adenoma 3, multiple types [RCV000508670]|Pseudohypoparathyroidism type I A [RCV001813747]|Sex cord-stromal tumor [RCV000017293]|not provided [RCV001804738] Chr20:58909366 [GRCh38]
Chr20:57484421 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|other
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) single nucleotide variant McCune-Albright syndrome [RCV000191995]|Pituitary adenoma 3, multiple types [RCV000017294] Chr20:58909541 [GRCh38]
Chr20:57484596 [GRCh37]
Chr20:20q13.32		 pathogenic|other|not provided
NM_000516.7(GNAS):c.681G>C (p.Gln227His) single nucleotide variant Pituitary adenoma 3, multiple types [RCV000017296] Chr20:58909542 [GRCh38]
Chr20:57484597 [GRCh37]
Chr20:20q13.32		 pathogenic|other
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558266]|McCune-Albright syndrome [RCV000191991]|PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC [RCV000017297]|Polyostotic fibrous dysplasia, somatic, mosaic [RCV000017298] Chr20:58909365 [GRCh38]
Chr20:57484420 [GRCh37]
Chr20:20q13.32		 pathogenic|other|not provided
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg) single nucleotide variant Pseudohypoparathyroidism [RCV000017303] Chr20:58909715 [GRCh38]
Chr20:57484770 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) single nucleotide variant Inborn genetic diseases [RCV001265731]|Pseudohypoparathyroidism type I A [RCV001731308]|Pseudopseudohypoparathyroidism [RCV000017306]|not provided [RCV000595336] Chr20:58909737 [GRCh38]
Chr20:57484792 [GRCh37]
Chr20:20q13.32		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) indel Pseudopseudohypoparathyroidism [RCV000017307] Chr20:58909737..58909738 [GRCh38]
Chr20:57484792..57484793 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1096G>T (p.Ala366Ser) single nucleotide variant PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS [RCV000017309] Chr20:58910740 [GRCh38]
Chr20:57485795 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly) single nucleotide variant McCune-Albright syndrome [RCV000017310] Chr20:58909365 [GRCh38]
Chr20:57484420 [GRCh37]
Chr20:20q13.32		 pathogenic|other
NM_000516.7(GNAS):c.692G>A (p.Arg231His) single nucleotide variant GNAS-related disorder [RCV004545870]|Pseudohypoparathyroidism [RCV000017311]|Pseudohypoparathyroidism type I A [RCV001731309]|not provided [RCV002514105] Chr20:58909553 [GRCh38]
Chr20:57484608 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) single nucleotide variant Pseudohypoparathyroidism [RCV000017323]|Pseudopseudohypoparathyroidism [RCV000017322]|not provided [RCV002243646] Chr20:58903703 [GRCh38]
Chr20:57478758 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) microsatellite GNAS-related disorder [RCV004535182]|not provided [RCV003436968]|not specified [RCV000173143] Chr20:58891706..58891707 [GRCh38]
Chr20:57466761..57466762 [GRCh37]
Chr20:20q13.32		 benign|likely benign
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_016592.3(GNAS):c.*42+13645C>T single nucleotide variant Malignant melanoma [RCV000072722] Chr20:58854531 [GRCh38]
Chr20:57429586 [GRCh37]
Chr20:56862981 [NCBI36]
Chr20:20q13.32		 not provided
NM_001077490.2(GNAS):c.*1-16848C>T single nucleotide variant Lung cancer [RCV000101695] Chr20:58878764 [GRCh38]
Chr20:57453819 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001196518]|not provided [RCV003764842]|not specified [RCV000121155] Chr20:58898945 [GRCh38]
Chr20:57474000 [GRCh37]
Chr20:20q13.32		 uncertain significance|not provided
NM_000516.7(GNAS):c.259G>A (p.Glu87Lys) single nucleotide variant not provided [RCV005089599]|not specified [RCV000121156] Chr20:58903532 [GRCh38]
Chr20:57478587 [GRCh37]
Chr20:20q13.32		 uncertain significance|not provided
NM_000516.7(GNAS):c.432C>T (p.Pro144=) single nucleotide variant McCune-Albright syndrome [RCV002498564]|not provided [RCV000882967]|not specified [RCV000121157] Chr20:58903791 [GRCh38]
Chr20:57478846 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly) single nucleotide variant not provided [RCV001571810]|not specified [RCV000121160] Chr20:58853765 [GRCh38]
Chr20:57428820 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) single nucleotide variant McCune-Albright syndrome [RCV002483218]|not provided [RCV000948056]|not specified [RCV000121161] Chr20:58854572 [GRCh38]
Chr20:57429627 [GRCh37]
Chr20:20q13.32		 benign|not provided
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) single nucleotide variant GNAS-related disorder [RCV004542876]|McCune-Albright syndrome [RCV002492424]|not provided [RCV001547748]|not specified [RCV000121162] Chr20:58854641 [GRCh38]
Chr20:57429696 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_080425.4(GNAS):c.1427C>T (p.Ala476Val) single nucleotide variant GNAS-related disorder [RCV004530002]|not provided [RCV005243119]|not specified [RCV000121163] Chr20:58854692 [GRCh38]
Chr20:57429747 [GRCh37]
Chr20:20q13.32		 likely benign|not provided
NM_080425.4(GNAS):c.1538C>T (p.Ala513Val) single nucleotide variant GNAS-related disorder [RCV004530003]|not specified [RCV000121164] Chr20:58854803 [GRCh38]
Chr20:57429858 [GRCh37]
Chr20:20q13.32		 uncertain significance|not provided
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) single nucleotide variant not provided [RCV001573620]|not specified [RCV000121165] Chr20:58854392 [GRCh38]
Chr20:57429447 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) single nucleotide variant McCune-Albright syndrome [RCV002492425]|not provided [RCV000974148]|not specified [RCV000121166] Chr20:58853893 [GRCh38]
Chr20:57428948 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_080425.4(GNAS):c.1178G>A (p.Arg393Lys) single nucleotide variant not specified [RCV000121167] Chr20:58854443 [GRCh38]
Chr20:57429498 [GRCh37]
Chr20:20q13.32		 not provided
NM_080425.4(GNAS):c.311T>G (p.Phe104Cys) single nucleotide variant not specified [RCV000121168] Chr20:58853576 [GRCh38]
Chr20:57428631 [GRCh37]
Chr20:20q13.32		 not provided
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) single nucleotide variant GNAS-related disorder [RCV004528825]|not provided [RCV000224833]|not specified [RCV000121169] Chr20:58853943 [GRCh38]
Chr20:57428998 [GRCh37]
Chr20:20q13.32		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_016592.5(GNAS):c.332C>T (p.Thr111Ile) single nucleotide variant not specified [RCV000121171] Chr20:58840438 [GRCh38]
Chr20:57415493 [GRCh37]
Chr20:20q13.32		 not provided
NM_016592.5(GNAS):c.715C>A (p.Pro239Thr) single nucleotide variant not provided [RCV000514370]|not specified [RCV000121172] Chr20:58840821 [GRCh38]
Chr20:57415876 [GRCh37]
Chr20:20q13.32		 benign|not provided
NM_080425.4(GNAS):c.484A>G (p.Met162Val) single nucleotide variant McCune-Albright syndrome [RCV002492426]|not provided [RCV000890289]|not specified [RCV000121173] Chr20:58853749 [GRCh38]
Chr20:57428804 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_080425.4(GNAS):c.988A>G (p.Ile330Val) single nucleotide variant GNAS-related disorder [RCV004528826]|McCune-Albright syndrome [RCV005400426]|not provided [RCV002467573]|not specified [RCV000121174] Chr20:58854253 [GRCh38]
Chr20:57429308 [GRCh37]
Chr20:20q13.32		 benign|uncertain significance|not provided
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) single nucleotide variant McCune-Albright syndrome [RCV002492427]|not provided [RCV000514374]|not specified [RCV000121175] Chr20:58855063 [GRCh38]
Chr20:57430118 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_080425.4(GNAS):c.1135G>C (p.Gly379Arg) single nucleotide variant GNAS-related disorder [RCV004530005]|not specified [RCV000121176] Chr20:58854400 [GRCh38]
Chr20:57429455 [GRCh37]
Chr20:20q13.32		 likely benign|not provided
NM_080425.4(GNAS):c.11G>A (p.Arg4His) single nucleotide variant GNAS-related disorder [RCV004542877]|not specified [RCV000121177] Chr20:58853276 [GRCh38]
Chr20:57428331 [GRCh37]
Chr20:20q13.32		 likely benign|not provided
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) single nucleotide variant GNAS-related disorder [RCV004528827]|McCune-Albright syndrome [RCV002498565]|not provided [RCV001573945]|not specified [RCV000121178] Chr20:58854727 [GRCh38]
Chr20:57429782 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance|not provided
NM_080425.4(GNAS):c.181G>A (p.Val61Ile) single nucleotide variant not specified [RCV000121179] Chr20:58853446 [GRCh38]
Chr20:57428501 [GRCh37]
Chr20:20q13.32		 not provided
NM_080425.4(GNAS):c.196G>A (p.Glu66Lys) single nucleotide variant not provided [RCV001698964]|not specified [RCV000121180] Chr20:58853461 [GRCh38]
Chr20:57428516 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_080425.4(GNAS):c.661G>A (p.Glu221Lys) single nucleotide variant GNAS-related disorder [RCV004542878]|not specified [RCV000121181] Chr20:58853926 [GRCh38]
Chr20:57428981 [GRCh37]
Chr20:20q13.32		 uncertain significance|not provided
NM_080425.4(GNAS):c.1233_1259del (p.Thr415_Gly423del) deletion GNAS-related disorder [RCV004542875]|not provided [RCV000962816]|not specified [RCV000121158] Chr20:58854493..58854519 [GRCh38]
Chr20:57429548..57429574 [GRCh37]
Chr20:20q13.32		 benign|likely benign|not provided
NM_016592.5(GNAS):c.354_365del (p.Ile119_Glu122del) deletion GNAS-related disorder [RCV004530004]|not specified [RCV000121170] Chr20:58840451..58840462 [GRCh38]
Chr20:57415506..57415517 [GRCh37]
Chr20:20q13.32		 uncertain significance|not provided
NM_000516.7(GNAS):c.433-18T>C single nucleotide variant not provided [RCV001512377]|not specified [RCV000179318] Chr20:58905365 [GRCh38]
Chr20:57480420 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.163A>G (p.Thr55Ala) single nucleotide variant Inborn genetic diseases [RCV000190719] Chr20:58895635 [GRCh38]
Chr20:57470690 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.349G>A (p.Val117Met) single nucleotide variant not provided [RCV000514466] Chr20:58903708 [GRCh38]
Chr20:57478763 [GRCh37]
Chr20:20q13.32		 pathogenic|conflicting interpretations of pathogenicity
NM_000516.7(GNAS):c.1010C>A (p.Ala337Asp) single nucleotide variant not provided [RCV000174252] Chr20:58910373 [GRCh38]
Chr20:57485428 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 copy number gain See cases [RCV000135622] Chr20:55630597..60941207 [GRCh38]
Chr20:54220678..59516263 [GRCh37]
Chr20:53639062..58949658 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh38/hg38 20q13.32(chr20:58887879-58890870)x3 copy number gain See cases [RCV000137221] Chr20:58887879..58890870 [GRCh38]
Chr20:57462934..57465925 [GRCh37]
Chr20:56896329..56899320 [NCBI36]
Chr20:20q13.32		 benign
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33		 pathogenic
GRCh38/hg38 20q13.32(chr20:58889588-58890885)x1 copy number loss See cases [RCV000138424] Chr20:58889588..58890885 [GRCh38]
Chr20:57464643..57465940 [GRCh37]
Chr20:56898038..56899335 [NCBI36]
Chr20:20q13.32		 likely benign
GRCh38/hg38 20q13.32(chr20:58889496-58890544)x1 copy number loss See cases [RCV000139083] Chr20:58889496..58890544 [GRCh38]
Chr20:57464551..57465599 [GRCh37]
Chr20:56897946..56898994 [NCBI36]
Chr20:20q13.32		 likely benign
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33		 pathogenic
GRCh38/hg38 20q13.32(chr20:58850610-58851543)x3 copy number gain See cases [RCV000141470] Chr20:58850610..58851543 [GRCh38]
Chr20:57425665..57426598 [GRCh37]
Chr20:56859060..56859993 [NCBI36]
Chr20:20q13.32		 benign
GRCh38/hg38 20q13.32(chr20:58630473-58881669)x3 copy number gain See cases [RCV000141642] Chr20:58630473..58881669 [GRCh38]
Chr20:57205529..57456724 [GRCh37]
Chr20:56638935..56890119 [NCBI36]
Chr20:20q13.32		 uncertain significance
GRCh38/hg38 20q13.32(chr20:58888479-58889699)x3 copy number gain See cases [RCV000142376] Chr20:58888479..58889699 [GRCh38]
Chr20:57463534..57464754 [GRCh37]
Chr20:56896929..56898149 [NCBI36]
Chr20:20q13.32		 benign
GRCh38/hg38 20q13.32(chr20:58888333-58893190)x1 copy number loss See cases [RCV000142959] Chr20:58888333..58893190 [GRCh38]
Chr20:57463388..57468245 [GRCh37]
Chr20:56896783..56901640 [NCBI36]
Chr20:20q13.32		 likely benign
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
NM_000516.7(GNAS):c.784C>T (p.Gln262Ter) single nucleotide variant not provided [RCV000254856] Chr20:58909749 [GRCh38]
Chr20:57484804 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.393C>T (p.Ile131=) single nucleotide variant Progressive osseous heteroplasia [RCV001701698]|Pseudohypoparathyroidism type 1B [RCV001701780]|Pseudohypoparathyroidism type 1C [RCV001701542]|Pseudohypoparathyroidism type I A [RCV001701629]|Pseudopseudohypoparathyroidism [RCV001701628]|not provided [RCV001519408]|not specified [RCV000178784] Chr20:58903752 [GRCh38]
Chr20:57478807 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.971-2A>G single nucleotide variant not provided [RCV000255276] Chr20:58910332 [GRCh38]
Chr20:57485387 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) single nucleotide variant GNAS-related disorder [RCV004530088]|Inborn genetic diseases [RCV001265981]|McCune-Albright syndrome [RCV002503750]|Pseudohypoparathyroidism [RCV000191090]|Pseudohypoparathyroidism type I A [RCV004786518]|Pseudopseudohypoparathyroidism [RCV002051824]|not provided [RCV003556238] Chr20:58891760 [GRCh38]
Chr20:57466815 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) single nucleotide variant McCune-Albright syndrome [RCV000191992] Chr20:58909366 [GRCh38]
Chr20:57484421 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|not provided
NM_000516.7(GNAS):c.679C>A (p.Gln227Lys) single nucleotide variant McCune-Albright syndrome [RCV000191993] Chr20:58909540 [GRCh38]
Chr20:57484595 [GRCh37]
Chr20:20q13.32		 pathogenic|not provided
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu) single nucleotide variant McCune-Albright syndrome [RCV000191994] Chr20:58909541 [GRCh38]
Chr20:57484596 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|not provided
NM_000516.7(GNAS):c.681G>T (p.Gln227His) single nucleotide variant McCune-Albright syndrome [RCV000191996] Chr20:58909542 [GRCh38]
Chr20:57484597 [GRCh37]
Chr20:20q13.32		 pathogenic|not provided
NM_000516.7(GNAS):c.138G>A (p.Leu46=) single nucleotide variant GNAS-related disorder [RCV004530115]|not specified [RCV000194490] Chr20:58891864 [GRCh38]
Chr20:57466919 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.880C>T (p.Gln294Ter) single nucleotide variant Pseudohypoparathyroidism [RCV000196321] Chr20:58909991 [GRCh38]
Chr20:57485046 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.1030_1032dup (p.Glu344dup) duplication Pseudohypoparathyroidism type 1B [RCV000758195] Chr20:58910392..58910393 [GRCh38]
Chr20:57485447..57485448 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.898A>T (p.Lys300Ter) single nucleotide variant not provided [RCV000519224] Chr20:58910009 [GRCh38]
Chr20:57485064 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) single nucleotide variant GNAS-related disorder [RCV004527666]|McCune-Albright syndrome [RCV002491150]|not provided [RCV000578725] Chr20:58853363 [GRCh38]
Chr20:57428418 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.10A>G (p.Arg4Gly) single nucleotide variant GNAS-related disorder [RCV004535210]|not specified [RCV000238748] Chr20:58840116 [GRCh38]
Chr20:57415171 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.657C>T (p.Pro219=) single nucleotide variant GNAS-related disorder [RCV004535207]|not specified [RCV000239168] Chr20:58853922 [GRCh38]
Chr20:57428977 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.432+1G>A single nucleotide variant Inborn genetic diseases [RCV000623168]|Pseudopseudohypoparathyroidism [RCV000515760]|not provided [RCV001857879] Chr20:58903792 [GRCh38]
Chr20:57478847 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.108C>T (p.Val36=) single nucleotide variant GNAS-related disorder [RCV004535393]|not provided [RCV000274539] Chr20:58891834 [GRCh38]
Chr20:57466889 [GRCh37]
Chr20:20q13.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000516.7(GNAS):c.213-5A>G single nucleotide variant not provided [RCV000319282] Chr20:58898936 [GRCh38]
Chr20:57473991 [GRCh37]
Chr20:20q13.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000516.7(GNAS):c.312+7G>C single nucleotide variant not provided [RCV000357613] Chr20:58903592 [GRCh38]
Chr20:57478647 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.477_514del (p.Thr160fs) deletion not provided [RCV000366648] Chr20:58840583..58840620 [GRCh38]
Chr20:57415638..57415675 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) single nucleotide variant GNAS-related disorder [RCV004531152]|McCune-Albright syndrome [RCV002504569]|Progressive osseous heteroplasia [RCV001354967]|Pseudohypoparathyroidism [RCV001358646]|Pseudohypoparathyroidism type 1B [RCV001354116]|Pseudohypoparathyroidism type 1C [RCV001357204]|Pseudohypoparathyroidism type 1C [RCV005361558]|Pseudopseudohypoparathyroidism [RCV001358585]|not provided [RCV001698589]|not specified [RCV005236829] Chr20:58853803 [GRCh38]
Chr20:57428858 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.-178_-171del deletion not provided [RCV000722922] Chr20:58891545..58891552 [GRCh38]
Chr20:57466600..57466607 [GRCh37]
Chr20:20q13.32		 benign|uncertain significance
NM_000516.7(GNAS):c.-4_2del (p.Met1del) deletion Disorders of GNAS Inactivation [RCV003389328]|not provided [RCV000490003] Chr20:58891723..58891728 [GRCh38]
Chr20:57466778..57466783 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.313-3C>G single nucleotide variant Pseudohypoparathyroidism type 1C [RCV003314440] Chr20:58903669 [GRCh38]
Chr20:57478724 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.531-13_531-10del microsatellite not provided [RCV000597562] Chr20:58909144..58909147 [GRCh38]
Chr20:57484204..57484207 [GRCh37]
Chr20:20q13.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000516.7(GNAS):c.1124T>C (p.Val375Ala) single nucleotide variant not provided [RCV000598372] Chr20:58910768 [GRCh38]
Chr20:57485823 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.793C>T (p.Arg265Cys) single nucleotide variant GNAS-related disorder [RCV004735684]|Inborn genetic diseases [RCV000624182]|not provided [RCV005054229] Chr20:58909758 [GRCh38]
Chr20:57484813 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_016592.5(GNAS):c.409C>T (p.Pro137Ser) single nucleotide variant Inborn genetic diseases [RCV000624712] Chr20:58840515 [GRCh38]
Chr20:57415570 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.890del (p.Gly297fs) deletion GNAS-related disorder [RCV004735655]|Pseudopseudohypoparathyroidism [RCV004555871]|not specified [RCV000592657] Chr20:58854153 [GRCh38]
Chr20:57429208 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) single nucleotide variant Pseudohypoparathyroidism type I A [RCV003139897]|not provided [RCV000593306] Chr20:58910740 [GRCh38]
Chr20:57485795 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000516.7(GNAS):c.312+4C>T single nucleotide variant not provided [RCV000593542] Chr20:58903589 [GRCh38]
Chr20:57478644 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) single nucleotide variant Cushing syndrome [RCV000763449]|Obesity [RCV000414783]|Pseudohypoparathyroidism type 1B [RCV001270163]|not provided [RCV000760382] Chr20:58891811 [GRCh38]
Chr20:57466866 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.102G>A (p.Lys34=) single nucleotide variant GNAS-related disorder [RCV004735786]|not provided [RCV000733691] Chr20:58891828 [GRCh38]
Chr20:57466883 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.779A>G (p.Asp260Gly) single nucleotide variant not provided [RCV000729139] Chr20:58909744 [GRCh38]
Chr20:57484799 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1093del (p.Cys365fs) deletion not provided [RCV000414072] Chr20:58910737 [GRCh38]
Chr20:57485792 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.319G>C (p.Val107Leu) single nucleotide variant not provided [RCV000421661] Chr20:58903678 [GRCh38]
Chr20:57478733 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.125G>A (p.Arg42His) single nucleotide variant not provided [RCV000429080] Chr20:58891851 [GRCh38]
Chr20:57466906 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_080425.4(GNAS):c.919C>G (p.Pro307Ala) single nucleotide variant not provided [RCV000425831] Chr20:58854184 [GRCh38]
Chr20:57429239 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1136G>A (p.Cys379Tyr) single nucleotide variant not provided [RCV000481496] Chr20:58910780 [GRCh38]
Chr20:57485835 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.257+1G>T single nucleotide variant not provided [RCV000482442] Chr20:58898986 [GRCh38]
Chr20:57474041 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000483377] Chr20:58891727 [GRCh38]
Chr20:57466782 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.8G>C (p.Cys3Ser) single nucleotide variant not provided [RCV000484773] Chr20:58891734 [GRCh38]
Chr20:57466789 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) single nucleotide variant Cushing syndrome [RCV000477792] Chr20:58854465 [GRCh38]
Chr20:57429520 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) single nucleotide variant Cushing syndrome [RCV000477956]|McCune-Albright syndrome [RCV002481496]|not provided [RCV000879924]|not specified [RCV001726187] Chr20:58854720 [GRCh38]
Chr20:57429775 [GRCh37]
Chr20:20q13.32		 benign|likely benign|uncertain significance
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys) single nucleotide variant Pseudohypoparathyroidism [RCV000496133]|not provided [RCV003313085] Chr20:58853740 [GRCh38]
Chr20:57428795 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.585+6C>T single nucleotide variant GNAS-related disorder [RCV004535595]|not provided [RCV001318417]|not specified [RCV000501587] Chr20:58909222 [GRCh38]
Chr20:57484277 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.306G>A (p.Ala102=) single nucleotide variant not provided [RCV000972192]|not specified [RCV000501728] Chr20:58903579 [GRCh38]
Chr20:57478634 [GRCh37]
Chr20:20q13.32		 likely pathogenic|benign|likely benign
NM_000516.7(GNAS):c.530+10C>T single nucleotide variant GNAS-related disorder [RCV004535594]|not provided [RCV002056849]|not specified [RCV000500133] Chr20:58905490 [GRCh38]
Chr20:57480545 [GRCh37]
Chr20:20q13.32		 benign|likely benign|uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33		 likely pathogenic
NM_000516.7(GNAS):c.305C>T (p.Ala102Val) single nucleotide variant not provided [RCV000493137] Chr20:58903578 [GRCh38]
Chr20:57478633 [GRCh37]
Chr20:20q13.32		 likely pathogenic|conflicting interpretations of pathogenicity
NM_016592.5(GNAS):c.367A>G (p.Thr123Ala) single nucleotide variant not provided [RCV000493376] Chr20:58840473 [GRCh38]
Chr20:57415528 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) single nucleotide variant See cases [RCV002222189]|not provided [RCV000595919] Chr20:58891728 [GRCh38]
Chr20:57466783 [GRCh37]
Chr20:20q13.32		 pathogenic|uncertain significance
NM_016592.5(GNAS):c.263dup (p.His88fs) duplication Inborn genetic diseases [RCV000624669] Chr20:58840368..58840369 [GRCh38]
Chr20:57415423..57415424 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.920A>T (p.Lys307Met) single nucleotide variant Inborn genetic diseases [RCV003261900] Chr20:58910031 [GRCh38]
Chr20:57485086 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000516.7(GNAS):c.742G>A (p.Val248Met) single nucleotide variant Inborn genetic diseases [RCV000623120] Chr20:58909707 [GRCh38]
Chr20:57484762 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_016592.5(GNAS):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000681937] Chr20:58840109 [GRCh38]
Chr20:57415164 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.1006dup (p.Arg336fs) duplication not specified [RCV000678708] Chr20:58910366..58910367 [GRCh38]
Chr20:57485421..57485422 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) single nucleotide variant GNAS-related disorder [RCV004544954]|Pseudopseudohypoparathyroidism [RCV000708584] Chr20:58854687 [GRCh38]
Chr20:57429742 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_080425.4(GNAS):c.2069-5231C>T single nucleotide variant not provided [RCV004810478] Chr20:58890381 [GRCh38]
Chr20:57465436 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.627G>A (p.Lys209=) single nucleotide variant not provided [RCV001573508]|not specified [RCV001700787] Chr20:58853892 [GRCh38]
Chr20:57428947 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732171] Chr20:58910388 [GRCh38]
Chr20:57485443 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) single nucleotide variant Pseudopseudohypoparathyroidism [RCV001730120] Chr20:58903723 [GRCh38]
Chr20:57478778 [GRCh37]
Chr20:20q13.32		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.32(chr20:57463993-57469073)x0 copy number loss not provided [RCV000741295] Chr20:57463993..57469073 [GRCh37]
Chr20:20q13.32		 benign
GRCh37/hg19 20q13.32(chr20:57465451-57469073)x1 copy number loss not provided [RCV000741296] Chr20:57465451..57469073 [GRCh37]
Chr20:20q13.32		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000516.7(GNAS):c.976C>T (p.Pro326Ser) single nucleotide variant not provided [RCV001700614] Chr20:58910339 [GRCh38]
Chr20:57485394 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter) single nucleotide variant Pseudohypoparathyroidism [RCV000853231] Chr20:58903544 [GRCh38]
Chr20:57478599 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.319G>A (p.Val107Met) single nucleotide variant not provided [RCV001597488] Chr20:58903678 [GRCh38]
Chr20:57478733 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) single nucleotide variant Pseudopseudohypoparathyroidism [RCV000754872]|not provided [RCV005092169] Chr20:58909718 [GRCh38]
Chr20:57484773 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.120G>A (p.Thr40=) single nucleotide variant GNAS-related disorder [RCV004533535]|not provided [RCV000919563] Chr20:58891846 [GRCh38]
Chr20:57466901 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) insertion not provided [RCV001573787]|not specified [RCV001700790] Chr20:58854641..58854642 [GRCh38]
Chr20:57429696..57429697 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) microsatellite McCune-Albright syndrome [RCV000761303]|Pseudohypoparathyroidism type 1B [RCV002273823] Chr20:58910787..58910789 [GRCh38]
Chr20:57485842..57485844 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.526C>T (p.Gln176Ter) single nucleotide variant not provided [RCV000760383] Chr20:58905476 [GRCh38]
Chr20:57480531 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.585+1G>A single nucleotide variant Pseudohypoparathyroidism type I A [RCV003314468] Chr20:58909217 [GRCh38]
Chr20:57484272 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter) single nucleotide variant Pseudohypoparathyroidism type I A [RCV003314347] Chr20:58905383 [GRCh38]
Chr20:57480438 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys) single nucleotide variant not provided [RCV003239066] Chr20:58905428 [GRCh38]
Chr20:57480483 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|uncertain significance
NM_080425.4(GNAS):c.2069-6389CGGCG[3] microsatellite McCune-Albright syndrome [RCV000990322] Chr20:58889222..58889223 [GRCh38]
Chr20:57464277..57464278 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.-18GCC[8] (p.Met1_Gly2insAlaAla) microsatellite not provided [RCV001577060] Chr20:58891706..58891707 [GRCh38]
Chr20:57466761..57466762 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.348dup (p.Val117fs) duplication GNAS-related disorder [RCV004734008]|McCune-Albright syndrome [RCV002489729]|Pseudohypoparathyroidism type I A [RCV002250726]|not provided [RCV001090864] Chr20:58903701..58903702 [GRCh38]
Chr20:57478756..57478757 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.1343A>C (p.Asp448Ala) single nucleotide variant GNAS-related disorder [RCV004528518]|Inborn genetic diseases [RCV004039403]|not provided [RCV001573237] Chr20:58854608 [GRCh38]
Chr20:57429663 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) single nucleotide variant McCune-Albright syndrome [RCV002495552]|not provided [RCV000925048] Chr20:58910775 [GRCh38]
Chr20:57485830 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.195C>A (p.Gly65=) single nucleotide variant GNAS-related disorder [RCV004543560]|not provided [RCV000949441] Chr20:58853460 [GRCh38]
Chr20:57428515 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.132G>A (p.Leu44=) single nucleotide variant not provided [RCV000967801] Chr20:58891858 [GRCh38]
Chr20:57466913 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1173C>T (p.Tyr391=) single nucleotide variant GNAS-related disorder [RCV004543455]|not provided [RCV000920346] Chr20:58910817 [GRCh38]
Chr20:57485872 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) single nucleotide variant GNAS-related disorder [RCV004735876]|McCune-Albright syndrome [RCV002479036]|not provided [RCV000902012] Chr20:58854223 [GRCh38]
Chr20:57429278 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.306G>T (p.Ala102=) single nucleotide variant GNAS-related disorder [RCV004536003]|not provided [RCV000983663] Chr20:58903579 [GRCh38]
Chr20:57478634 [GRCh37]
Chr20:20q13.32		 likely benign
NM_001077489.4(GNAS):c.929C>T (p.Thr310Ile) single nucleotide variant Esophageal atresia [RCV000984650] Chr20:58910337 [GRCh38]
Chr20:57485392 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup) microsatellite GNAS-related disorder [RCV000767533]|Pseudohypoparathyroidism type I A [RCV005235479]|not provided [RCV001869055] Chr20:58891852..58891853 [GRCh38]
Chr20:57466907..57466908 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.366C>T (p.Pro122=) single nucleotide variant McCune-Albright syndrome [RCV002479039]|Pseudohypoparathyroidism [RCV001007597]|not provided [RCV000903826]|not specified [RCV001796813] Chr20:58903725 [GRCh38]
Chr20:57478780 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.384G>A (p.Val128=) single nucleotide variant GNAS-related disorder [RCV004541903]|McCune-Albright syndrome [RCV002495465]|not provided [RCV000903827]|not specified [RCV001796814] Chr20:58903743 [GRCh38]
Chr20:57478798 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.718+7T>C single nucleotide variant not provided [RCV000923778] Chr20:58909586 [GRCh38]
Chr20:57484641 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) single nucleotide variant McCune-Albright syndrome [RCV002489367]|not provided [RCV000962815] Chr20:58854486 [GRCh38]
Chr20:57429541 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.684C>T (p.Arg228=) single nucleotide variant GNAS-related disorder [RCV004735889]|McCune-Albright syndrome [RCV002495539]|not provided [RCV000921458] Chr20:58909545 [GRCh38]
Chr20:57484600 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.651T>A (p.Arg217=) single nucleotide variant not provided [RCV000964561] Chr20:58840757 [GRCh38]
Chr20:57415812 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) single nucleotide variant McCune-Albright syndrome [RCV002501470]|not provided [RCV000892313] Chr20:58854178 [GRCh38]
Chr20:57429233 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.18C>T (p.Asn6=) single nucleotide variant GNAS-related disorder [RCV004533531]|not provided [RCV000918628] Chr20:58891744 [GRCh38]
Chr20:57466799 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.951C>T (p.Arg317=) single nucleotide variant McCune-Albright syndrome [RCV002487962]|not provided [RCV000896678]|not specified [RCV001818720] Chr20:58910062 [GRCh38]
Chr20:57485117 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.219C>T (p.Gly73=) single nucleotide variant not provided [RCV000963396] Chr20:58898947 [GRCh38]
Chr20:57474002 [GRCh37]
Chr20:20q13.32		 likely benign
NC_000020.11:g.58854453_58854461dup duplication not provided [RCV000968774]   benign
NM_080425.4(GNAS):c.525T>C (p.Ser175=) single nucleotide variant not provided [RCV000961706]|not specified [RCV001699483] Chr20:58853790 [GRCh38]
Chr20:57428845 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) single nucleotide variant Pseudopseudohypoparathyroidism [RCV000785915] Chr20:58903573 [GRCh38]
Chr20:57478628 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.970+2T>C single nucleotide variant not provided [RCV000799307] Chr20:58910083 [GRCh38]
Chr20:57485138 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) single nucleotide variant GNAS-related disorder [RCV004735924]|McCune-Albright syndrome [RCV000990321]|Pseudohypoparathyroidism type 1C [RCV003227882] Chr20:58853770 [GRCh38]
Chr20:57428825 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter) single nucleotide variant Pseudohypoparathyroidism [RCV000787033] Chr20:58903550 [GRCh38]
Chr20:57478605 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.139+1G>C single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001095787]|not provided [RCV002557972] Chr20:58891866 [GRCh38]
Chr20:57466921 [GRCh37]
Chr20:20q13.32		 pathogenic
NC_000020.10:g.(?_56993257)_(57967907_?)dup duplication Amyotrophic lateral sclerosis type 8 [RCV004579447] Chr20:56993257..57967907 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-5126G>A single nucleotide variant not provided [RCV004585640] Chr20:58890486 [GRCh38]
Chr20:57465541 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2069-5381G>A single nucleotide variant not provided [RCV004585773] Chr20:58890231 [GRCh38]
Chr20:57465286 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.801_802dup (p.Glu268fs) duplication not provided [RCV001009205] Chr20:58909765..58909766 [GRCh38]
Chr20:57484820..57484821 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.1642G>A (p.Ala548Thr) single nucleotide variant GNAS-related disorder [RCV004528382]|not provided [RCV001090863] Chr20:58854907 [GRCh38]
Chr20:57429962 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1039-4G>C single nucleotide variant not provided [RCV000915365] Chr20:58910679 [GRCh38]
Chr20:57485734 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) single nucleotide variant Pseudohypoparathyroidism [RCV000850178]|Pseudohypoparathyroidism type 1C [RCV005054277] Chr20:58891863 [GRCh38]
Chr20:57466918 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_080425.4(GNAS):c.66C>T (p.Ile22=) single nucleotide variant not provided [RCV004809125] Chr20:58853331 [GRCh38]
Chr20:57428386 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.647A>T (p.Lys216Ile) single nucleotide variant not provided [RCV003318098] Chr20:58909411 [GRCh38]
Chr20:57484466 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) single nucleotide variant McCune-Albright syndrome [RCV002491595]|Pseudohypoparathyroidism type 1B [RCV001196583] Chr20:58854588 [GRCh38]
Chr20:57429643 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.531-2A>T single nucleotide variant not provided [RCV001200155] Chr20:58909160 [GRCh38]
Chr20:57484215 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) single nucleotide variant GNAS-related disorder [RCV004528410]|McCune-Albright syndrome [RCV002497679]|Pseudohypoparathyroidism type 1B [RCV001197837]|Pseudohypoparathyroidism type 1C [RCV003227930] Chr20:58854541 [GRCh38]
Chr20:57429596 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.541A>G (p.Lys181Glu) single nucleotide variant not provided [RCV003126964] Chr20:58909172 [GRCh38]
Chr20:57484227 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.149A>C (p.Glu50Ala) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004788497] Chr20:58895621 [GRCh38]
Chr20:57470676 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.751G>C (p.Gly251Arg) single nucleotide variant not specified [RCV003123394] Chr20:58854016 [GRCh38]
Chr20:57429071 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1130A>G (p.Asn377Ser) single nucleotide variant not provided [RCV001575960] Chr20:58910774 [GRCh38]
Chr20:57485829 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2068+180A>T single nucleotide variant not provided [RCV001665463] Chr20:58855513 [GRCh38]
Chr20:57430568 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) single nucleotide variant GNAS-related disorder [RCV004542017]|McCune-Albright syndrome [RCV002501916]|not provided [RCV001568915] Chr20:58854660 [GRCh38]
Chr20:57429715 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.101A>C (p.Lys34Thr) single nucleotide variant not provided [RCV001572222] Chr20:58891827 [GRCh38]
Chr20:57466882 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1095C>T (p.Cys365=) single nucleotide variant GNAS-related disorder [RCV004540613]|not provided [RCV003106932] Chr20:58910739 [GRCh38]
Chr20:57485794 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.294C>T (p.Pro98=) single nucleotide variant not provided [RCV001572666]|not specified [RCV001699818] Chr20:58840400 [GRCh38]
Chr20:57415455 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) single nucleotide variant McCune-Albright syndrome [RCV002501927]|not provided [RCV001572855] Chr20:58854693 [GRCh38]
Chr20:57429748 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr) single nucleotide variant not provided [RCV001570530] Chr20:58903577 [GRCh38]
Chr20:57478632 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_080425.4(GNAS):c.2069-5414GAA[7] microsatellite not provided [RCV004811793] Chr20:58890197..58890198 [GRCh38]
Chr20:57465252..57465253 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2069-5722A>T single nucleotide variant not provided [RCV004810260] Chr20:58889890 [GRCh38]
Chr20:57464945 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2069-5336CGA[3] microsatellite not provided [RCV004810299] Chr20:58890276..58890278 [GRCh38]
Chr20:57465331..57465333 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.192_195del (p.Phe64fs) deletion not provided [RCV003239198] Chr20:58840295..58840298 [GRCh38]
Chr20:57415350..57415353 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.840-72C>T single nucleotide variant not provided [RCV001677330] Chr20:58909879 [GRCh38]
Chr20:57484934 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.432+93G>A single nucleotide variant not provided [RCV001639020] Chr20:58903884 [GRCh38]
Chr20:58903884..58903885 [GRCh38]
Chr20:57478939 [GRCh37]
Chr20:57478939..57478940 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.936T>C (p.Phe312=) single nucleotide variant GNAS-related disorder [RCV004536257]|McCune-Albright syndrome [RCV002496023]|not provided [RCV001699761] Chr20:58910047 [GRCh38]
Chr20:57485102 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1117del (p.Arg373fs) deletion not provided [RCV001597554] Chr20:58910760 [GRCh38]
Chr20:57485815 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.258-138A>T single nucleotide variant not provided [RCV001649550] Chr20:58903393 [GRCh38]
Chr20:57478448 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.-106T>G single nucleotide variant not provided [RCV001691498] Chr20:58853160 [GRCh38]
Chr20:57428215 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.2069-4321C>T single nucleotide variant not provided [RCV001713842] Chr20:58891291 [GRCh38]
Chr20:57466346 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.357G>A (p.Leu119=) single nucleotide variant McCune-Albright syndrome [RCV002506737]|not provided [RCV001700611] Chr20:58903716 [GRCh38]
Chr20:57478771 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_016592.5(GNAS):c.*42+26G>A single nucleotide variant not provided [RCV001544950] Chr20:58840912 [GRCh38]
Chr20:57415967 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1335G>A (p.Ala445=) single nucleotide variant not provided [RCV001572687] Chr20:58854600 [GRCh38]
Chr20:57429655 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+2T>C single nucleotide variant not provided [RCV001582201] Chr20:58891867 [GRCh38]
Chr20:57466922 [GRCh37]
Chr20:20q13.32		 pathogenic
NC_000020.11:g.58854498_58854524del deletion not provided [RCV000962816]   benign
NM_000516.7(GNAS):c.159A>G (p.Lys53=) single nucleotide variant GNAS-related disorder [RCV004531018]|not provided [RCV000900166] Chr20:58895631 [GRCh38]
Chr20:57470686 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.417C>T (p.Asp139=) single nucleotide variant not provided [RCV000918512] Chr20:58903776 [GRCh38]
Chr20:57478831 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.984C>T (p.Pro328=) single nucleotide variant not provided [RCV000900711] Chr20:58910347 [GRCh38]
Chr20:57485402 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.33C>T (p.Asp11=) single nucleotide variant not provided [RCV000975413] Chr20:58891759 [GRCh38]
Chr20:57466814 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.9C>T (p.Cys3=) single nucleotide variant not provided [RCV000960992]|not specified [RCV001701381] Chr20:58891735 [GRCh38]
Chr20:57466790 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.531-7C>T single nucleotide variant GNAS-related disorder [RCV004735862]|not provided [RCV000886246] Chr20:58909155 [GRCh38]
Chr20:57484210 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+9G>C single nucleotide variant not provided [RCV000937170] Chr20:58891874 [GRCh38]
Chr20:57466929 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.130C>T (p.Leu44=) single nucleotide variant not provided [RCV000903915] Chr20:58891856 [GRCh38]
Chr20:57466911 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.60T>G (p.Arg20=) single nucleotide variant GNAS-related disorder [RCV004530947]|not provided [RCV000887703] Chr20:58891786 [GRCh38]
Chr20:57466841 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.72A>G (p.Lys24=) single nucleotide variant GNAS-related disorder [RCV004530948]|not provided [RCV000887704] Chr20:58891798 [GRCh38]
Chr20:57466853 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.75G>A (p.Lys25=) single nucleotide variant GNAS-related disorder [RCV004530949]|McCune-Albright syndrome [RCV002507573]|not provided [RCV000887705] Chr20:58891801 [GRCh38]
Chr20:57466856 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) single nucleotide variant GNAS-related disorder [RCV004541809]|McCune-Albright syndrome [RCV002501436]|not provided [RCV000887706] Chr20:58891837 [GRCh38]
Chr20:57466892 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.112C>A (p.Arg38=) single nucleotide variant GNAS-related disorder [RCV004541810]|not provided [RCV000887707] Chr20:58891838 [GRCh38]
Chr20:57466893 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.126C>G (p.Arg42=) single nucleotide variant GNAS-related disorder [RCV004735866]|not provided [RCV000887708] Chr20:58891852 [GRCh38]
Chr20:57466907 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.129G>C (p.Leu43=) single nucleotide variant GNAS-related disorder [RCV004735867]|not provided [RCV000887709] Chr20:58891855 [GRCh38]
Chr20:57466910 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.891C>T (p.Leu297=) single nucleotide variant GNAS-related disorder [RCV004533475]|not provided [RCV000908255] Chr20:58910002 [GRCh38]
Chr20:57485057 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.562del (p.Ala188fs) deletion not provided [RCV001221154] Chr20:58909192 [GRCh38]
Chr20:57484247 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1036C>T (p.Leu346=) single nucleotide variant GNAS-related disorder [RCV004533587]|not provided [RCV000933679] Chr20:58910399 [GRCh38]
Chr20:57485454 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732175] Chr20:58910759 [GRCh38]
Chr20:57485814 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del) deletion GNAS-related disorder [RCV004538931]|not provided [RCV003236970] Chr20:58840488..58840511 [GRCh38]
Chr20:57415543..57415566 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.531-295C>G single nucleotide variant not provided [RCV001570381] Chr20:58908867 [GRCh38]
Chr20:57483922 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.689C>T (p.Ser230Phe) single nucleotide variant not provided [RCV001563164] Chr20:58840795 [GRCh38]
Chr20:57415850 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.998G>A (p.Arg333His) single nucleotide variant not provided [RCV001558622] Chr20:58910361 [GRCh38]
Chr20:57485416 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro) single nucleotide variant Pseudohypoparathyroidism type I A [RCV003108240]|not provided [RCV005099230] Chr20:58905429 [GRCh38]
Chr20:57480484 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|uncertain significance
NM_080425.4(GNAS):c.1431_1456del (p.Ala478fs) deletion not provided [RCV002464939] Chr20:58854693..58854718 [GRCh38]
Chr20:57429748..57429773 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|uncertain significance
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV002468469] Chr20:58854956 [GRCh38]
Chr20:57430011 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn) single nucleotide variant GNAS-related disorder [RCV004534107]|Pseudohypoparathyroidism type 1C [RCV002468500] Chr20:58854013 [GRCh38]
Chr20:57429068 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.518_521del (p.Asp173fs) deletion not provided [RCV001553000] Chr20:58905466..58905469 [GRCh38]
Chr20:57480521..57480524 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.213-268C>T single nucleotide variant not provided [RCV001561384] Chr20:58898673 [GRCh38]
Chr20:57473728 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2069-4340CCT[6] microsatellite not provided [RCV001547551] Chr20:58891272..58891274 [GRCh38]
Chr20:57466327..57466329 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1399G>T (p.Ala467Ser) single nucleotide variant GNAS-related disorder [RCV004541982]|not provided [RCV001530572] Chr20:58854664 [GRCh38]
Chr20:57429719 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.90G>A (p.Leu30=) single nucleotide variant not provided [RCV001727958]|not specified [RCV001699888] Chr20:58891816 [GRCh38]
Chr20:57466871 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_016592.5(GNAS):c.*42+21C>T single nucleotide variant not provided [RCV001659331] Chr20:58840907 [GRCh38]
Chr20:57415962 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.140-150G>A single nucleotide variant not provided [RCV001597632] Chr20:58895462 [GRCh38]
Chr20:57470517 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.2068+169A>T single nucleotide variant not provided [RCV001686441] Chr20:58855502 [GRCh38]
Chr20:57430557 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.432+287A>G single nucleotide variant not provided [RCV001619734] Chr20:58904078 [GRCh38]
Chr20:58904078..58904079 [GRCh38]
Chr20:57479133 [GRCh37]
Chr20:57479133..57479134 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.433-71G>T single nucleotide variant not provided [RCV001676790] Chr20:58905312 [GRCh38]
Chr20:57480367 [GRCh37]
Chr20:20q13.32		 benign
NM_016592.5(GNAS):c.537G>A (p.Pro179=) single nucleotide variant GNAS-related disorder [RCV004536255]|McCune-Albright syndrome [RCV002506736]|not provided [RCV001726644]|not specified [RCV001699985] Chr20:58840643 [GRCh38]
Chr20:57415698 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.*136G>A single nucleotide variant not provided [RCV001636143] Chr20:58910965 [GRCh38]
Chr20:57486020 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) single nucleotide variant GNAS-related disorder [RCV004528525]|not provided [RCV001596612] Chr20:58909206 [GRCh38]
Chr20:57484261 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.312+36C>T single nucleotide variant Pseudohypoparathyroidism [RCV001007583] Chr20:58903621 [GRCh38]
Chr20:57478676 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.530+1G>T single nucleotide variant Pseudohypoparathyroidism [RCV001007584] Chr20:58905481 [GRCh38]
Chr20:57480536 [GRCh37]
Chr20:20q13.32		 pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) single nucleotide variant GNAS-related disorder [RCV004536045]|Inborn genetic diseases [RCV002549273]|McCune-Albright syndrome [RCV002497329]|Pseudohypoparathyroidism [RCV001007922]|Pseudohypoparathyroidism type 1C [RCV003336225]|Pseudohypoparathyroidism type I A [RCV002283517]|Pseudopseudohypoparathyroidism [RCV004761863]|not provided [RCV001269956] Chr20:58909552 [GRCh38]
Chr20:57484607 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_016592.5(GNAS):c.*42+54A>G single nucleotide variant not provided [RCV001682102] Chr20:58840940 [GRCh38]
Chr20:57415995 [GRCh37]
Chr20:20q13.32		 benign
NM_016592.5(GNAS):c.-52A>G single nucleotide variant not provided [RCV001695486] Chr20:58840055 [GRCh38]
Chr20:58840055..58840056 [GRCh38]
Chr20:57415110 [GRCh37]
Chr20:57415110..57415111 [GRCh37]
Chr20:20q13.32		 benign
NM_016592.5(GNAS):c.-295C>G single nucleotide variant not provided [RCV001696245] Chr20:58839812 [GRCh38]
Chr20:57414867 [GRCh37]
Chr20:20q13.32		 benign
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 copy number gain not provided [RCV001007097] Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33		 pathogenic
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) single nucleotide variant GNAS-related disorder [RCV004536205]|Inborn genetic diseases [RCV004039388]|McCune-Albright syndrome [RCV002488395]|not provided [RCV001572791] Chr20:58853419 [GRCh38]
Chr20:57428474 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.531-132T>C single nucleotide variant not provided [RCV001690623] Chr20:58909030 [GRCh38]
Chr20:57484085 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.140-247_140-243del deletion not provided [RCV001708133] Chr20:58895362..58895366 [GRCh38]
Chr20:57470417..57470421 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) single nucleotide variant Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis [RCV005253866]|GNAS-related disorder [RCV004734243]|McCune-Albright syndrome [RCV002488424]|not provided [RCV001585161] Chr20:58910348 [GRCh38]
Chr20:57485403 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.473G>A (p.Gly158Glu) single nucleotide variant not provided [RCV001200154] Chr20:58905423 [GRCh38]
Chr20:57480478 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.296del (p.Leu99fs) deletion Pseudohypoparathyroidism type 1B [RCV001196820] Chr20:58903569 [GRCh38]
Chr20:57478624 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe) single nucleotide variant GNAS-related disorder [RCV004726945]|Pseudohypoparathyroidism type 1B [RCV001198565] Chr20:58840468 [GRCh38]
Chr20:57415523 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) deletion Intellectual disability [RCV001255350]|Pseudohypoparathyroidism [RCV001253618] Chr20:58854019..58854026 [GRCh38]
Chr20:57429074..57429081 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.212+3_212+6del deletion Pseudohypoparathyroidism [RCV001260991] Chr20:58895684..58895687 [GRCh38]
Chr20:57470739..57470742 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.1005G>T (p.Pro335=) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV001262637] Chr20:58854270 [GRCh38]
Chr20:57429325 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter) single nucleotide variant Inborn genetic diseases [RCV001267237]|not provided [RCV001760312] Chr20:58891829 [GRCh38]
Chr20:57466884 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.257+197_531-8del deletion Pseudopseudohypoparathyroidism [RCV001260996] Chr20:58899177..58909149 [GRCh38]
Chr20:57474232..57484204 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.5:c.(?_-424)_(257_?)dup duplication Pseudopseudohypoparathyroidism [RCV004800949]   pathogenic
NM_000516.7(GNAS):c.494G>A (p.Arg165His) single nucleotide variant not provided [RCV001269785] Chr20:58905444 [GRCh38]
Chr20:57480499 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_080425.4(GNAS):c.2069-4200A>G single nucleotide variant not provided [RCV001568252] Chr20:58891412 [GRCh38]
Chr20:58891412..58891413 [GRCh38]
Chr20:57466467 [GRCh37]
Chr20:57466467..57466468 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu) single nucleotide variant Pseudopseudohypoparathyroidism [RCV001336870] Chr20:58853518 [GRCh38]
Chr20:57428573 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.432+1G>T single nucleotide variant McCune-Albright syndrome [RCV001329336] Chr20:58903792 [GRCh38]
Chr20:57478847 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.499_501del (p.Asn167del) deletion not provided [RCV001269717] Chr20:58905448..58905450 [GRCh38]
Chr20:57480503..57480505 [GRCh37]
Chr20:20q13.32		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000516.7(GNAS):c.31del (p.Asp11fs) deletion not provided [RCV001269973] Chr20:58891756 [GRCh38]
Chr20:57466811 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.178A>G (p.Met60Val) single nucleotide variant not provided [RCV001369325] Chr20:58895650 [GRCh38]
Chr20:57470705 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1680C>A (p.Gly560=) single nucleotide variant not provided [RCV001795783] Chr20:58854945 [GRCh38]
Chr20:57430000 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1524C>T (p.Ala508=) single nucleotide variant GNAS-related disorder [RCV004734273]|not provided [RCV001795792]|not specified [RCV001796935] Chr20:58854789 [GRCh38]
Chr20:57429844 [GRCh37]
Chr20:20q13.32		 benign|likely benign|uncertain significance
NM_080425.4(GNAS):c.1146C>T (p.Ala382=) single nucleotide variant McCune-Albright syndrome [RCV005400517]|not provided [RCV001794791] Chr20:58854411 [GRCh38]
Chr20:57429466 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.422C>G (p.Pro141Arg) single nucleotide variant not provided [RCV001358427] Chr20:58853687 [GRCh38]
Chr20:57428742 [GRCh37]
Chr20:20q13.32		 uncertain significance
NC_000020.10:g.(?_56993257)_(57967907_?)dup duplication Amyotrophic lateral sclerosis type 8 [RCV001324796] Chr20:56993257..57967907 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) deletion Pseudohypoparathyroidism [RCV001335369]|not provided [RCV002546729] Chr20:58910751..58910752 [GRCh38]
Chr20:57485806..57485807 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del) microsatellite Pseudopseudohypoparathyroidism [RCV001289548] Chr20:58909984..58909986 [GRCh38]
Chr20:57485039..57485041 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.329T>C (p.Met110Thr) single nucleotide variant not provided [RCV001353366] Chr20:58903688 [GRCh38]
Chr20:57478743 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.555C>T (p.Ile185=) single nucleotide variant not provided [RCV001514029]|not specified [RCV001700768] Chr20:58909186 [GRCh38]
Chr20:57484241 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) single nucleotide variant not provided [RCV001514030]|not specified [RCV001699795] Chr20:58910757 [GRCh38]
Chr20:57485812 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.955GAC[1] (p.Asp320del) microsatellite not provided [RCV001528248] Chr20:58854219..58854221 [GRCh38]
Chr20:57429274..57429276 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) single nucleotide variant GNAS-related disorder [RCV004734181]|McCune-Albright syndrome [RCV002476746]|not provided [RCV001420663] Chr20:58854395 [GRCh38]
Chr20:57429450 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.794G>A (p.Arg265His) single nucleotide variant GNAS-related disorder [RCV004734159]|Pseudohypoparathyroidism type I A [RCV001732169]|not provided [RCV001379069] Chr20:58909759 [GRCh38]
Chr20:57484814 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000516.7(GNAS):c.139+1G>A single nucleotide variant not provided [RCV001384387] Chr20:58891866 [GRCh38]
Chr20:57466921 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.114G>A (p.Arg38=) single nucleotide variant GNAS-related disorder [RCV004540330]|not provided [RCV001439276] Chr20:58891840 [GRCh38]
Chr20:57466895 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1039-127T>C single nucleotide variant not provided [RCV001714695] Chr20:58910556 [GRCh38]
Chr20:57485611 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.2068+89C>G single nucleotide variant not provided [RCV001649602] Chr20:58855422 [GRCh38]
Chr20:57430477 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.257+159A>G single nucleotide variant not provided [RCV001649644] Chr20:58899144 [GRCh38]
Chr20:57474199 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.897C>A (p.Ser299Arg) single nucleotide variant GNAS-related disorder [RCV004536260]|not provided [RCV001700561] Chr20:58854162 [GRCh38]
Chr20:57429217 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.585+55C>G single nucleotide variant not provided [RCV001671877] Chr20:58909271 [GRCh38]
Chr20:57484326 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.2069-4371GCC[7] microsatellite not provided [RCV001698633] Chr20:58891240..58891241 [GRCh38]
Chr20:57466295..57466296 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) single nucleotide variant GNAS-related disorder [RCV004734244]|McCune-Albright syndrome [RCV002501956]|not provided [RCV001589997] Chr20:58891817 [GRCh38]
Chr20:57466872 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.432+2_432+15del deletion not provided [RCV001587176] Chr20:58903789..58903802 [GRCh38]
Chr20:57478844..57478857 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.531-269G>A single nucleotide variant not provided [RCV001609915] Chr20:58908893 [GRCh38]
Chr20:57483948 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.586-42G>A single nucleotide variant not provided [RCV001590203] Chr20:58909308 [GRCh38]
Chr20:57484363 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.432+15G>A single nucleotide variant not provided [RCV001520420] Chr20:58903806 [GRCh38]
Chr20:57478861 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del) deletion Pseudohypoparathyroidism type 1C [RCV001376073] Chr20:58903759..58903767 [GRCh38]
Chr20:57478814..57478822 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_016592.5(GNAS):c.58dup (p.Leu20fs) duplication GNAS-related disorder [RCV004536305]|not provided [RCV001755693] Chr20:58840162..58840163 [GRCh38]
Chr20:57415217..57415218 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732162] Chr20:58910794 [GRCh38]
Chr20:57485849 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732172] Chr20:58910684 [GRCh38]
Chr20:57485739 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.576G>T (p.Pro192=) single nucleotide variant McCune-Albright syndrome [RCV002506753]|not provided [RCV001730361]|not specified [RCV001730362] Chr20:58909207 [GRCh38]
Chr20:57484262 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732163]|not provided [RCV003558827] Chr20:58905439 [GRCh38]
Chr20:57480494 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732164] Chr20:58905457 [GRCh38]
Chr20:57480512 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu) single nucleotide variant GNAS-related disorder [RCV004531185]|Pseudohypoparathyroidism type I A [RCV001732170] Chr20:58910028 [GRCh38]
Chr20:57485083 [GRCh37]
Chr20:20q13.32		 pathogenic|uncertain significance
NM_000516.7(GNAS):c.1039-1G>A single nucleotide variant Pseudopseudohypoparathyroidism [RCV002251256] Chr20:58910682 [GRCh38]
Chr20:57485737 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.791A>G (p.Asn264Ser) single nucleotide variant not provided [RCV001755632] Chr20:58909756 [GRCh38]
Chr20:57484811 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1067G>A (p.Arg356His) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732174] Chr20:58910711 [GRCh38]
Chr20:57485766 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser) single nucleotide variant Pseudohypoparathyroidism type I A [RCV002226845] Chr20:58895626 [GRCh38]
Chr20:57470681 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV002227596] Chr20:58855138 [GRCh38]
Chr20:57430193 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.355dup (p.Ile119fs) duplication not provided [RCV001755663] Chr20:58840458..58840459 [GRCh38]
Chr20:57415513..57415514 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732160] Chr20:58891850 [GRCh38]
Chr20:57466905 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732167]|not provided [RCV003130513] Chr20:58909563 [GRCh38]
Chr20:57484618 [GRCh37]
Chr20:20q13.32		 pathogenic|uncertain significance
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732168] Chr20:58909738 [GRCh38]
Chr20:57484793 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1130A>C (p.Asn377Thr) single nucleotide variant not provided [RCV001755436] Chr20:58910774 [GRCh38]
Chr20:57485829 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-5153G>A single nucleotide variant not provided [RCV005242673] Chr20:58890459 [GRCh38]
Chr20:57465514 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732165] Chr20:58909359 [GRCh38]
Chr20:57484414 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.127C>G (p.Leu43Val) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732161] Chr20:58891853 [GRCh38]
Chr20:57466908 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) single nucleotide variant GNAS-related disorder [RCV004734158]|Pseudohypoparathyroidism type 1B [RCV003989689]|Pseudohypoparathyroidism type I A [RCV001732166]|not provided [RCV002254963] Chr20:58909543 [GRCh38]
Chr20:57484598 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001732173] Chr20:58910701 [GRCh38]
Chr20:57485756 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.2068+160_2068+161insTT insertion not provided [RCV001732248] Chr20:58855492..58855493 [GRCh38]
Chr20:57430547..57430548 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.1397_1398insC (p.Ala467fs) insertion not specified [RCV002247869] Chr20:58854662..58854663 [GRCh38]
Chr20:57429717..57429718 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.410C>T (p.Pro137Leu) single nucleotide variant not provided [RCV001776760] Chr20:58840516 [GRCh38]
Chr20:57415571 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.470_472del (p.Glu157del) deletion Pseudohypoparathyroidism type I A [RCV002255782] Chr20:58905419..58905421 [GRCh38]
Chr20:57480474..57480476 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.662T>C (p.Met221Thr) single nucleotide variant not provided [RCV001759169] Chr20:58909523 [GRCh38]
Chr20:57484578 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln) single nucleotide variant GNAS-related disorder [RCV004536306]|not provided [RCV001779725] Chr20:58910370 [GRCh38]
Chr20:57485425 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.580G>A (p.Asp194Asn) single nucleotide variant not provided [RCV001774940] Chr20:58909211 [GRCh38]
Chr20:57484266 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.514G>A (p.Asp172Asn) single nucleotide variant GNAS-related disorder [RCV004734272]|not provided [RCV001795523] Chr20:58840620 [GRCh38]
Chr20:57415675 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_080425.4(GNAS):c.207A>G (p.Gly69=) single nucleotide variant not provided [RCV001768429] Chr20:58853472 [GRCh38]
Chr20:57428527 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.356T>G (p.Ile119Ser) single nucleotide variant not provided [RCV001776354] Chr20:58840462 [GRCh38]
Chr20:57415517 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1001G>A (p.Gly334Asp) single nucleotide variant not provided [RCV001795499] Chr20:58854266 [GRCh38]
Chr20:57429321 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.821C>T (p.Pro274Leu) single nucleotide variant not provided [RCV001795730] Chr20:58854086 [GRCh38]
Chr20:57429141 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.441G>A (p.Pro147=) single nucleotide variant not provided [RCV001796924]|not specified [RCV001795495] Chr20:58840547 [GRCh38]
Chr20:57415602 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.677G>A (p.Gly226Asp) single nucleotide variant not provided [RCV001757336] Chr20:58909538 [GRCh38]
Chr20:57484593 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_080425.4(GNAS):c.2068+219A>G single nucleotide variant not provided [RCV001776738] Chr20:58855552 [GRCh38]
Chr20:57430607 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) single nucleotide variant McCune-Albright syndrome [RCV002488612]|not provided [RCV001757415] Chr20:58854540 [GRCh38]
Chr20:57429595 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.314C>T (p.Thr105Ile) single nucleotide variant not provided [RCV001817674] Chr20:58903673 [GRCh38]
Chr20:57478728 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.55C>T (p.Gln19Ter) single nucleotide variant not provided [RCV001817685] Chr20:58891781 [GRCh38]
Chr20:57466836 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.880dup (p.Gln294fs) duplication Progressive osseous heteroplasia [RCV001808886] Chr20:58909990..58909991 [GRCh38]
Chr20:57485045..57485046 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.823A>G (p.Ser275Gly) single nucleotide variant not provided [RCV001819306] Chr20:58909788 [GRCh38]
Chr20:57484843 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.124dup (p.Arg42fs) duplication Pseudohypoparathyroidism type 1C [RCV001814752] Chr20:58891848..58891849 [GRCh38]
Chr20:57466903..57466904 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.283del (p.Ile95fs) deletion not provided [RCV001817702] Chr20:58903556 [GRCh38]
Chr20:57478611 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1012_1013insT (p.Lys338fs) insertion not provided [RCV001817979] Chr20:58910375..58910376 [GRCh38]
Chr20:57485430..57485431 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.257+5G>A single nucleotide variant not specified [RCV001822359] Chr20:58898990 [GRCh38]
Chr20:57474045 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.809_810del (p.Leu270fs) deletion Pseudohypoparathyroidism type I A [RCV004799099] Chr20:58909774..58909775 [GRCh38]
Chr20:57484829..57484830 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.756C>A (p.Ser252Arg) single nucleotide variant not provided [RCV001814877] Chr20:58909721 [GRCh38]
Chr20:57484776 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.3G>T (p.Met1Ile) single nucleotide variant Pseudohypoparathyroidism type I A [RCV001806426] Chr20:58891729 [GRCh38]
Chr20:57466784 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.212+1_212+3del deletion Pseudopseudohypoparathyroidism [RCV001814684] Chr20:58895684..58895686 [GRCh38]
Chr20:57470739..57470741 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.312delA (p.Thr105fs) deletion not provided [RCV001946704] Chr20:58903584 [GRCh38]
Chr20:57478639 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.312+5G>A single nucleotide variant GNAS-related disorder [RCV004542142]|not provided [RCV001874011] Chr20:58903590 [GRCh38]
Chr20:57478645 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1068dup (p.His357fs) duplication not provided [RCV001967920] Chr20:58910711..58910712 [GRCh38]
Chr20:57485766..57485767 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.536T>G (p.Leu179Arg) single nucleotide variant not provided [RCV002040895] Chr20:58909167 [GRCh38]
Chr20:57484222 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.-18_-16GCC[9] microsatellite GNAS-related disorder [RCV004536351]|not provided [RCV001837129] Chr20:58891706..58891707 [GRCh38]
Chr20:57466761..57466762 [GRCh37]
Chr20:20q13.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000516.7(GNAS):c.950G>A (p.Arg317His) single nucleotide variant Pseudohypoparathyroidism type I A [RCV002052086] Chr20:58910061 [GRCh38]
Chr20:57485116 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365) copy number loss not specified [RCV002052712] Chr20:55292205..57866365 [GRCh37]
Chr20:20q13.31-13.32		 pathogenic
NM_000516.7(GNAS):c.458T>A (p.Leu153Gln) single nucleotide variant not provided [RCV002005759] Chr20:58905408 [GRCh38]
Chr20:57480463 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) copy number gain not specified [RCV002052713] Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
NC_000020.10:g.(?_57484385)_(57485156_?)del deletion not provided [RCV001949473] Chr20:57484385..57485156 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1128del (p.Phe376fs) deletion not provided [RCV002024717] Chr20:58910772 [GRCh38]
Chr20:57485827 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.458T>G (p.Leu153Arg) single nucleotide variant not provided [RCV001914214] Chr20:58905408 [GRCh38]
Chr20:57480463 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) single nucleotide variant not provided [RCV001959665] Chr20:58909994 [GRCh38]
Chr20:57485049 [GRCh37]
Chr20:20q13.32		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000516.7(GNAS):c.928del (p.Asp310fs) deletion not provided [RCV001944565] Chr20:58910038 [GRCh38]
Chr20:57485093 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1024C>T (p.Arg342Ter) single nucleotide variant McCune-Albright syndrome [RCV005032006]|not provided [RCV001962955] Chr20:58910387 [GRCh38]
Chr20:57485442 [GRCh37]
Chr20:20q13.32		 pathogenic
NC_000020.10:g.(?_54823900)_(57899514_?)del deletion not provided [RCV001900543] Chr20:54823900..57899514 [GRCh37]
Chr20:20q13.2-13.32		 uncertain significance
NM_000516.7(GNAS):c.301G>A (p.Glu101Lys) single nucleotide variant not provided [RCV001870487] Chr20:58903574 [GRCh38]
Chr20:57478629 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.348del (p.Val117fs) deletion Progressive osseous heteroplasia [RCV002273842]|Pseudohypoparathyroidism [RCV002273841]|not provided [RCV001876377] Chr20:58903702 [GRCh38]
Chr20:57478757 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) single nucleotide variant McCune-Albright syndrome [RCV002479482]|not provided [RCV001931633] Chr20:58903726 [GRCh38]
Chr20:57478781 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.679C>T (p.Gln227Ter) single nucleotide variant not provided [RCV001951289] Chr20:58909540 [GRCh38]
Chr20:57484595 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.139+3_139+4delinsGC indel not provided [RCV002051010] Chr20:58891868..58891869 [GRCh38]
Chr20:57466923..57466924 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.21dup (p.Lys8Ter) duplication not provided [RCV001915812] Chr20:58891746..58891747 [GRCh38]
Chr20:57466801..57466802 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.659+1G>A single nucleotide variant not provided [RCV002015758] Chr20:58909424 [GRCh38]
Chr20:57484479 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV003138029]|Pseudohypoparathyroidism type I A [RCV005235629]|not provided [RCV002015767] Chr20:58910369 [GRCh38]
Chr20:57485424 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.461G>A (p.Trp154Ter) single nucleotide variant not provided [RCV001972496] Chr20:58905411 [GRCh38]
Chr20:57480466 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.343C>T (p.Pro115Ser) single nucleotide variant not provided [RCV001958988] Chr20:58903702 [GRCh38]
Chr20:57478757 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.739G>A (p.Val247Met) single nucleotide variant GNAS-related disorder [RCV004728930]|not provided [RCV001939963] Chr20:58909704 [GRCh38]
Chr20:57484759 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.91_93del (p.Gln31del) deletion not provided [RCV001924464] Chr20:58891816..58891818 [GRCh38]
Chr20:57466871..57466873 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.432+2T>G single nucleotide variant not provided [RCV001939673] Chr20:58903793 [GRCh38]
Chr20:57478848 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.157A>G (p.Lys53Glu) single nucleotide variant not provided [RCV001994567] Chr20:58895629 [GRCh38]
Chr20:57470684 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.840-17G>A single nucleotide variant not provided [RCV002193042] Chr20:58909934 [GRCh38]
Chr20:57484989 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.201G>A (p.Gly67=) single nucleotide variant GNAS-related disorder [RCV004543743]|not provided [RCV002207567] Chr20:58895673 [GRCh38]
Chr20:57470728 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1352C>A (p.Ala451Asp) single nucleotide variant GNAS-related disorder [RCV004734477]|not provided [RCV002223672] Chr20:58854617 [GRCh38]
Chr20:57429672 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.252C>T (p.Ser84=) single nucleotide variant GNAS-related disorder [RCV004543809]|not provided [RCV002127184] Chr20:58898980 [GRCh38]
Chr20:57474035 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.310G>T (p.Glu104Ter) single nucleotide variant not provided [RCV002223452] Chr20:58903583 [GRCh38]
Chr20:57478638 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.840-12C>A single nucleotide variant not provided [RCV002084710] Chr20:58909939 [GRCh38]
Chr20:57484994 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) single nucleotide variant Pseudohypoparathyroidism type I A [RCV002250022] Chr20:58909360 [GRCh38]
Chr20:57484415 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.602dup (p.Val202fs) duplication Pseudohypoparathyroidism type I A [RCV002250023] Chr20:58909365..58909366 [GRCh38]
Chr20:57484420..57484421 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.549C>T (p.Asp183=) single nucleotide variant GNAS-related disorder [RCV004734406]|not provided [RCV002087159] Chr20:58909180 [GRCh38]
Chr20:57484235 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.999C>T (p.Arg333=) single nucleotide variant not provided [RCV002191247] Chr20:58910362 [GRCh38]
Chr20:57485417 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.669C>T (p.Asp223=) single nucleotide variant not provided [RCV002073529] Chr20:58909530 [GRCh38]
Chr20:57484585 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.660-19C>T single nucleotide variant McCune-Albright syndrome [RCV002500320]|not provided [RCV002153672] Chr20:58909502 [GRCh38]
Chr20:57484557 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.213-11C>T single nucleotide variant McCune-Albright syndrome [RCV002500264]|not provided [RCV002128938] Chr20:58898930 [GRCh38]
Chr20:57473985 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.363C>T (p.Asn121=) single nucleotide variant not provided [RCV002208085] Chr20:58903722 [GRCh38]
Chr20:57478777 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.718+9C>T single nucleotide variant not provided [RCV002149830] Chr20:58909588 [GRCh38]
Chr20:57484643 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.312+19T>C single nucleotide variant not provided [RCV002134615] Chr20:58903604 [GRCh38]
Chr20:57478659 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.738C>T (p.Phe246=) single nucleotide variant GNAS-related disorder [RCV004531299]|McCune-Albright syndrome [RCV002494102]|not provided [RCV002195461] Chr20:58909703 [GRCh38]
Chr20:57484758 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.660-15C>A single nucleotide variant McCune-Albright syndrome [RCV002500196]|not provided [RCV002116353] Chr20:58909506 [GRCh38]
Chr20:57484561 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.839+15C>T single nucleotide variant not provided [RCV002213902] Chr20:58909819 [GRCh38]
Chr20:57484874 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.530+11G>A single nucleotide variant GNAS-related disorder [RCV004734461]|Inborn genetic diseases [RCV003053466]|McCune-Albright syndrome [RCV002494397]|not provided [RCV002116615] Chr20:58905491 [GRCh38]
Chr20:57480546 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.312+17T>C single nucleotide variant McCune-Albright syndrome [RCV002508103]|not provided [RCV002131404] Chr20:58903602 [GRCh38]
Chr20:57478657 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.258-7A>C single nucleotide variant GNAS-related disorder [RCV004531455]|McCune-Albright syndrome [RCV002500185]|not provided [RCV002132772] Chr20:58903524 [GRCh38]
Chr20:57478579 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1038+17_1038+20del deletion McCune-Albright syndrome [RCV002480959]|not provided [RCV002127360] Chr20:58910418..58910421 [GRCh38]
Chr20:57485473..57485476 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.570T>C (p.Tyr190=) single nucleotide variant not provided [RCV002137176]|not specified [RCV005058040] Chr20:58909201 [GRCh38]
Chr20:57484256 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.840-18C>T single nucleotide variant not provided [RCV002104217] Chr20:58909933 [GRCh38]
Chr20:57484988 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.803C>G (p.Pro268Arg) single nucleotide variant not specified [RCV002247868] Chr20:58854068 [GRCh38]
Chr20:57429123 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1039-4G>A single nucleotide variant GNAS-related disorder [RCV004734444]|McCune-Albright syndrome [RCV002494250]|not provided [RCV002117456] Chr20:58910679 [GRCh38]
Chr20:57485734 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.683G>A (p.Arg228His) single nucleotide variant McCune-Albright syndrome [RCV002488630]|not provided [RCV002247220] Chr20:58909544 [GRCh38]
Chr20:57484599 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.586-12A>G single nucleotide variant not provided [RCV002117987] Chr20:58909338 [GRCh38]
Chr20:57484393 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg) single nucleotide variant Pseudohypoparathyroidism type I A [RCV002272602] Chr20:58909956 [GRCh38]
Chr20:57485011 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.1039-5C>T single nucleotide variant GNAS-related disorder [RCV004531496]|not provided [RCV002138721] Chr20:58910678 [GRCh38]
Chr20:57485733 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.433-9C>G single nucleotide variant not provided [RCV002201489] Chr20:58905374 [GRCh38]
Chr20:57480429 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.136C>T (p.Leu46=) single nucleotide variant GNAS-related disorder [RCV004734445]|McCune-Albright syndrome [RCV002494255]|not provided [RCV002117728] Chr20:58891862 [GRCh38]
Chr20:57466917 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.579C>T (p.Ser193=) single nucleotide variant not provided [RCV002120397] Chr20:58909210 [GRCh38]
Chr20:57484265 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+18del deletion not provided [RCV002122865] Chr20:58891878 [GRCh38]
Chr20:57466933 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.718+17T>C single nucleotide variant not provided [RCV002219826] Chr20:58909596 [GRCh38]
Chr20:57484651 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.226G>C (p.Asp76His) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV004785218] Chr20:58898954 [GRCh38]
Chr20:57474009 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.124C>G (p.Arg42Gly) single nucleotide variant Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis [RCV004783154] Chr20:58891850 [GRCh38]
Chr20:57466905 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NC_000020.10:g.(?_57466782)_(57485884_?)del deletion not provided [RCV003111327] Chr20:57466782..57485884 [GRCh37]
Chr20:20q13.32		 pathogenic
NC_000020.10:g.(?_57466782)_(57466940_?)del deletion not provided [RCV003111328] Chr20:57466782..57466940 [GRCh37]
Chr20:20q13.32		 pathogenic
NC_000020.10:g.(?_57478707)_(57478866_?)del deletion not provided [RCV003111329] Chr20:57478707..57478866 [GRCh37]
Chr20:20q13.32		 pathogenic
NC_000020.10:g.(?_57466782)_(57466940_?)dup duplication not provided [RCV003111330] Chr20:57466782..57466940 [GRCh37]
Chr20:20q13.32		 uncertain significance
NC_000020.10:g.(?_57485079)_(57487993_?)del deletion not provided [RCV003111331] Chr20:57485079..57487993 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.153del (p.Gly52fs) deletion Progressive osseous heteroplasia [RCV004788261] Chr20:58895625 [GRCh38]
Chr20:57470680 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.992A>T (p.Asp331Val) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004788459] Chr20:58910355 [GRCh38]
Chr20:57485410 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.476T>C (p.Val159Ala) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004789889] Chr20:58905426 [GRCh38]
Chr20:57480481 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp) single nucleotide variant Pseudohypoparathyroidism type I A [RCV002245509] Chr20:58840113 [GRCh38]
Chr20:57415168 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG indel Pseudohypoparathyroidism type I A [RCV002259424] Chr20:58909655..58909671 [GRCh38]
Chr20:57484710..57484726 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.446A>G (p.His149Arg) single nucleotide variant GNAS-related disorder [RCV004533998]|Pseudohypoparathyroidism type I A [RCV002253068]|not provided [RCV004763344] Chr20:58905396 [GRCh38]
Chr20:57480451 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.325G>A (p.Ala109Thr) single nucleotide variant Pseudopseudohypoparathyroidism [RCV005254049]|not provided [RCV002279089] Chr20:58903684 [GRCh38]
Chr20:57478739 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del) microsatellite not provided [RCV002276257] Chr20:58840371..58840373 [GRCh38]
Chr20:57415426..57415428 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.284T>A (p.Ile95Asn) single nucleotide variant Pseudohypoparathyroidism type I A [RCV002283915] Chr20:58903557 [GRCh38]
Chr20:57478612 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys) single nucleotide variant Pseudohypoparathyroidism type I A [RCV003447623]|not provided [RCV002265100] Chr20:58903748 [GRCh38]
Chr20:57478803 [GRCh37]
Chr20:20q13.32		 pathogenic|uncertain significance
NM_016592.5(GNAS):c.470_474dup (p.Leu159fs) duplication not provided [RCV002284847] Chr20:58840573..58840574 [GRCh38]
Chr20:57415628..57415629 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.390_425del (p.Thr131_Glu142del) deletion not provided [RCV002266747] Chr20:58840481..58840516 [GRCh38]
Chr20:57415536..57415571 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.730C>T (p.Arg244Ter) single nucleotide variant not provided [RCV002265241] Chr20:58853995 [GRCh38]
Chr20:57429050 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1340C>T (p.Pro447Leu) single nucleotide variant not provided [RCV002288127] Chr20:58854605 [GRCh38]
Chr20:57429660 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.207A>T (p.Gly69=) single nucleotide variant not provided [RCV002293057] Chr20:58853472 [GRCh38]
Chr20:57428527 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.460_461del (p.Trp154fs) microsatellite Pseudohypoparathyroidism type 1C [RCV002284004] Chr20:58905408..58905409 [GRCh38]
Chr20:57480463..57480464 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.1738G>A (p.Glu580Lys) single nucleotide variant not provided [RCV002287067] Chr20:58855003 [GRCh38]
Chr20:57430058 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.415_418del (p.Asp139fs) deletion Pseudohypoparathyroidism type I A [RCV002283660] Chr20:58903772..58903775 [GRCh38]
Chr20:57478827..57478830 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.569_570del (p.Tyr190fs) deletion not provided [RCV002293719] Chr20:58909199..58909200 [GRCh38]
Chr20:57484254..57484255 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1100T>G (p.Val367Gly) single nucleotide variant not provided [RCV002297664] Chr20:58910744 [GRCh38]
Chr20:57485799 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs) microsatellite GNAS-related disorder [RCV004529118]|Pseudopseudohypoparathyroidism [RCV002282784] Chr20:58910765..58910766 [GRCh38]
Chr20:57485820..57485821 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.2068+323_2068+353del deletion not provided [RCV002263269] Chr20:58855653..58855683 [GRCh38]
Chr20:57430708..57430738 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV002468488] Chr20:58840719 [GRCh38]
Chr20:57415774 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg) single nucleotide variant GNAS-related disorder [RCV004534037]|Inborn genetic diseases [RCV003097689]|not provided [RCV002285696] Chr20:58854532 [GRCh38]
Chr20:57429587 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1164G>T (p.Ala388=) single nucleotide variant not specified [RCV004587695] Chr20:58854429 [GRCh38]
Chr20:57429484 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.96G>A (p.Lys32=) single nucleotide variant not provided [RCV002727062] Chr20:58891822 [GRCh38]
Chr20:57466877 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1190C>A (p.Ala397Glu) single nucleotide variant not provided [RCV002461809] Chr20:58854455 [GRCh38]
Chr20:57429510 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly) single nucleotide variant GNAS-related disorder [RCV004545328]|Pseudohypoparathyroidism type 1C [RCV002468462]|not provided [RCV004546733] Chr20:58853972 [GRCh38]
Chr20:57429027 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV002468475] Chr20:58854052 [GRCh38]
Chr20:57429107 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV002468481] Chr20:58855063 [GRCh38]
Chr20:57430118 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.305dup (p.Met102fs) duplication not specified [RCV003230924] Chr20:58853569..58853570 [GRCh38]
Chr20:57428624..57428625 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.447T>C (p.His149=) single nucleotide variant GNAS-related disorder [RCV004735069] Chr20:58905397 [GRCh38]
Chr20:57480452 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1093T>C (p.Cys365Arg) single nucleotide variant not provided [RCV002296212] Chr20:58910737 [GRCh38]
Chr20:57485792 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.166A>T (p.Ile56Phe) single nucleotide variant not provided [RCV002305294] Chr20:58895638 [GRCh38]
Chr20:57470693 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.628A>G (p.Thr210Ala) single nucleotide variant not provided [RCV002300899] Chr20:58909392 [GRCh38]
Chr20:57484447 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.245del (p.Asn82fs) deletion not provided [RCV002305938] Chr20:58853509 [GRCh38]
Chr20:57428564 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.969C>T (p.Val323=) single nucleotide variant GNAS-related disorder [RCV004736292]|Inborn genetic diseases [RCV002840145] Chr20:58854234 [GRCh38]
Chr20:57429289 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.743T>A (p.Val248Glu) single nucleotide variant not provided [RCV003032748] Chr20:58909708 [GRCh38]
Chr20:57484763 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.10dup (p.Leu4fs) duplication not provided [RCV002880682] Chr20:58891734..58891735 [GRCh38]
Chr20:57466789..57466790 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.315C>T (p.Thr105=) single nucleotide variant not provided [RCV003033679] Chr20:58903674 [GRCh38]
Chr20:57478729 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.324C>T (p.Ala108=) single nucleotide variant GNAS-related disorder [RCV004540580]|not provided [RCV002616252] Chr20:58903683 [GRCh38]
Chr20:57478738 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.484T>C (p.Cys162Arg) single nucleotide variant Inborn genetic diseases [RCV002794396] Chr20:58905434 [GRCh38]
Chr20:57480489 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1121G>A (p.Arg374His) single nucleotide variant McCune-Albright syndrome [RCV005028126]|not provided [RCV003035037] Chr20:58910765 [GRCh38]
Chr20:57485820 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.860_861del (p.Val287fs) microsatellite Progressive osseous heteroplasia [RCV002510563]|Pseudohypoparathyroidism [RCV000017320]|not provided [RCV002513072] Chr20:58909969..58909970 [GRCh38]
Chr20:57485024..57485025 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.432+9C>T single nucleotide variant not provided [RCV002996650] Chr20:58903800 [GRCh38]
Chr20:57478855 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.5G>T (p.Gly2Val) single nucleotide variant not provided [RCV002842048] Chr20:58891731 [GRCh38]
Chr20:57466786 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.313-7T>C single nucleotide variant not provided [RCV002614705] Chr20:58903665 [GRCh38]
Chr20:57478720 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.585+17C>T single nucleotide variant not provided [RCV002881360] Chr20:58909233 [GRCh38]
Chr20:57484288 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser) single nucleotide variant Duane retraction syndrome [RCV003883209]|Inborn genetic diseases [RCV002946596]|not provided [RCV005256894] Chr20:58854856 [GRCh38]
Chr20:57429911 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.189G>A (p.Leu63=) single nucleotide variant not provided [RCV002880828] Chr20:58895661 [GRCh38]
Chr20:57470716 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.198T>G (p.Asn66Lys) single nucleotide variant not provided [RCV003034642] Chr20:58895670 [GRCh38]
Chr20:57470725 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.140-15dup duplication not provided [RCV002947300] Chr20:58895596..58895597 [GRCh38]
Chr20:57470651..57470652 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.699G>A (p.Lys233=) single nucleotide variant GNAS-related disorder [RCV004540576]|not provided [RCV002615532] Chr20:58909560 [GRCh38]
Chr20:57484615 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.45G>A (p.Glu15=) single nucleotide variant GNAS-related disorder [RCV004545375]|not provided [RCV002740249] Chr20:58891771 [GRCh38]
Chr20:57466826 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.318T>G (p.Ile106Met) single nucleotide variant not provided [RCV003003071] Chr20:58903677 [GRCh38]
Chr20:57478732 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.840-11C>T single nucleotide variant not provided [RCV002706351] Chr20:58909940 [GRCh38]
Chr20:57484995 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.140-6T>A single nucleotide variant not provided [RCV002796245] Chr20:58895606 [GRCh38]
Chr20:57470661 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.917G>A (p.Gly306Glu) single nucleotide variant Inborn genetic diseases [RCV002782457] Chr20:58854182 [GRCh38]
Chr20:57429237 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.757A>G (p.Ser253Gly) single nucleotide variant Inborn genetic diseases [RCV002783307] Chr20:58854022 [GRCh38]
Chr20:57429077 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.324C>G (p.Ala108=) single nucleotide variant GNAS-related disorder [RCV004536610]|not provided [RCV003100239] Chr20:58903683 [GRCh38]
Chr20:57478738 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.474_475dup (p.Val159fs) duplication not provided [RCV003038065] Chr20:58905422..58905423 [GRCh38]
Chr20:57480477..57480478 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1_2delinsGC (p.Met1Ala) indel not provided [RCV002847558] Chr20:58891727..58891728 [GRCh38]
Chr20:57466782..57466783 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.659+11_659+14dup duplication not provided [RCV002694843] Chr20:58909433..58909434 [GRCh38]
Chr20:57484488..57484489 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.212+10A>T single nucleotide variant not provided [RCV002706276] Chr20:58895694 [GRCh38]
Chr20:57470749 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.654C>A (p.Asn218Lys) single nucleotide variant not provided [RCV002927628] Chr20:58909418 [GRCh38]
Chr20:57484473 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.140-1G>C single nucleotide variant Inborn genetic diseases [RCV002761749] Chr20:58895611 [GRCh38]
Chr20:57470666 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.312+15C>T single nucleotide variant not provided [RCV002636413] Chr20:58903600 [GRCh38]
Chr20:57478655 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+18G>C single nucleotide variant not provided [RCV002590922] Chr20:58891883 [GRCh38]
Chr20:57466938 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.917C>A (p.Ser306Ter) single nucleotide variant not provided [RCV003021580] Chr20:58910028 [GRCh38]
Chr20:57485083 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.711C>T (p.Cys237=) single nucleotide variant GNAS-related disorder [RCV004725399]|not provided [RCV002852264] Chr20:58909572 [GRCh38]
Chr20:57484627 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.971-20T>C single nucleotide variant not provided [RCV002918947] Chr20:58910314 [GRCh38]
Chr20:57485369 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.153T>C (p.Ser51=) single nucleotide variant not provided [RCV002576196] Chr20:58895625 [GRCh38]
Chr20:57470680 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.585+10del deletion not provided [RCV002597230] Chr20:58909223 [GRCh38]
Chr20:57484278 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.970+17C>T single nucleotide variant not provided [RCV002593803] Chr20:58910098 [GRCh38]
Chr20:57485153 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.81G>A (p.Glu27=) single nucleotide variant GNAS-related disorder [RCV004736227]|not provided [RCV002958604] Chr20:58891807 [GRCh38]
Chr20:57466862 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.551T>C (p.Val184Ala) single nucleotide variant GNAS-related disorder [RCV004736197]|not provided [RCV002740846] Chr20:58909182 [GRCh38]
Chr20:57484237 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.706C>A (p.Gln236Lys) single nucleotide variant not provided [RCV002851732] Chr20:58909567 [GRCh38]
Chr20:57484622 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.717C>T (p.Asn239=) single nucleotide variant GNAS-related disorder [RCV004534132]|not provided [RCV002596687] Chr20:58909578 [GRCh38]
Chr20:57484633 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.524C>A (p.Ala175Asp) single nucleotide variant not provided [RCV002917183] Chr20:58905474 [GRCh38]
Chr20:57480529 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.607C>G (p.Gln203Glu) single nucleotide variant Inborn genetic diseases [RCV002788271] Chr20:58853872 [GRCh38]
Chr20:57428927 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys) single nucleotide variant not provided [RCV003064613] Chr20:58905452 [GRCh38]
Chr20:57480507 [GRCh37]
Chr20:20q13.32		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000516.7(GNAS):c.1007G>C (p.Arg336Pro) single nucleotide variant GNAS-related disorder [RCV004529175]|not provided [RCV002811775] Chr20:58910370 [GRCh38]
Chr20:57485425 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.317T>C (p.Ile106Thr) single nucleotide variant GNAS-associated disease [RCV005227807]|not provided [RCV003064612] Chr20:58903676 [GRCh38]
Chr20:57478731 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.971-15T>C single nucleotide variant not provided [RCV003049428] Chr20:58910319 [GRCh38]
Chr20:57485374 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.121C>T (p.His41Tyr) single nucleotide variant not provided [RCV003031619] Chr20:58891847 [GRCh38]
Chr20:57466902 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn) single nucleotide variant GNAS-related disorder [RCV004736289]|Inborn genetic diseases [RCV002717812]|McCune-Albright syndrome [RCV005400550] Chr20:58854466 [GRCh38]
Chr20:57429521 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.432+10A>T single nucleotide variant not provided [RCV002675865] Chr20:58903801 [GRCh38]
Chr20:57478856 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.1663T>C (p.Ser555Pro) single nucleotide variant Inborn genetic diseases [RCV002807882] Chr20:58854928 [GRCh38]
Chr20:57429983 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.840-3T>G single nucleotide variant not provided [RCV003028744] Chr20:58909948 [GRCh38]
Chr20:57485003 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.659+16C>T single nucleotide variant not provided [RCV002857330] Chr20:58909439 [GRCh38]
Chr20:57484494 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu) single nucleotide variant GNAS-related disorder [RCV004534167]|McCune-Albright syndrome [RCV005025955]|not provided [RCV002672054] Chr20:58898958 [GRCh38]
Chr20:57474013 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.702G>A (p.Trp234Ter) single nucleotide variant not provided [RCV003009918] Chr20:58909563 [GRCh38]
Chr20:57484618 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1079A>G (p.Tyr360Cys) single nucleotide variant not provided [RCV003028123] Chr20:58910723 [GRCh38]
Chr20:57485778 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.139+18G>A single nucleotide variant not provided [RCV002576473] Chr20:58891883 [GRCh38]
Chr20:57466938 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.530+20C>T single nucleotide variant not provided [RCV003026865] Chr20:58905500 [GRCh38]
Chr20:57480555 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.719-1G>A single nucleotide variant not provided [RCV003028551] Chr20:58909683 [GRCh38]
Chr20:57484738 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.220G>A (p.Glu74Lys) single nucleotide variant not provided [RCV002810346] Chr20:58898948 [GRCh38]
Chr20:57474003 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.154G>C (p.Gly52Arg) single nucleotide variant not provided [RCV002938937] Chr20:58895626 [GRCh38]
Chr20:57470681 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.670G>T (p.Val224Leu) single nucleotide variant Inborn genetic diseases [RCV002809924] Chr20:58909531 [GRCh38]
Chr20:57484586 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.312+7G>A single nucleotide variant GNAS-related disorder [RCV004534133]|not provided [RCV002600259] Chr20:58903592 [GRCh38]
Chr20:57478647 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1826G>A (p.Arg609His) single nucleotide variant Inborn genetic diseases [RCV002702673] Chr20:58855091 [GRCh38]
Chr20:57430146 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.697A>G (p.Lys233Glu) single nucleotide variant not provided [RCV002627607] Chr20:58909558 [GRCh38]
Chr20:57484613 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.78C>T (p.Ile26=) single nucleotide variant GNAS-related disorder [RCV004545347]|not provided [RCV002601017] Chr20:58891804 [GRCh38]
Chr20:57466859 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.848G>A (p.Arg283His) single nucleotide variant not provided [RCV002807192] Chr20:58909959 [GRCh38]
Chr20:57485014 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.570T>C (p.Gly190=) single nucleotide variant Inborn genetic diseases [RCV002965163] Chr20:58853835 [GRCh38]
Chr20:57428890 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1473G>A (p.Ala491=) single nucleotide variant Inborn genetic diseases [RCV002679504] Chr20:58854738 [GRCh38]
Chr20:57429793 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1700A>G (p.Glu567Gly) single nucleotide variant GNAS-related disorder [RCV004538862]|Inborn genetic diseases [RCV002678571] Chr20:58854965 [GRCh38]
Chr20:57430020 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1161C>T (p.His387=) single nucleotide variant GNAS-related disorder [RCV004736188]|not provided [RCV002654283] Chr20:58910805 [GRCh38]
Chr20:57485860 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+4A>C single nucleotide variant GNAS-related disorder [RCV004736257]|not provided [RCV003068784] Chr20:58891869 [GRCh38]
Chr20:57466924 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.124C>T (p.Arg42Cys) single nucleotide variant GNAS-related disorder [RCV004536549]|not provided [RCV003050558] Chr20:58891850 [GRCh38]
Chr20:57466905 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.637C>T (p.Gln213Ter) single nucleotide variant not provided [RCV003050560] Chr20:58909401 [GRCh38]
Chr20:57484456 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1156A>G (p.Met386Val) single nucleotide variant not provided [RCV002605451] Chr20:58910800 [GRCh38]
Chr20:57485855 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.212+6T>G single nucleotide variant Pseudohypoparathyroidism type 1B [RCV003153122] Chr20:58895690 [GRCh38]
Chr20:57470745 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1039-18C>G single nucleotide variant not provided [RCV002636015] Chr20:58910665 [GRCh38]
Chr20:57485720 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.93G>A (p.Gln31=) single nucleotide variant GNAS-related disorder [RCV004736187]|not provided [RCV002654122] Chr20:58891819 [GRCh38]
Chr20:57466874 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.877_878dup (p.Gln294fs) duplication not provided [RCV003050177] Chr20:58909987..58909988 [GRCh38]
Chr20:57485042..57485043 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.433-16T>C single nucleotide variant not provided [RCV002680804] Chr20:58905367 [GRCh38]
Chr20:57480422 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.17G>A (p.Cys6Tyr) single nucleotide variant not provided [RCV003129539] Chr20:58853282 [GRCh38]
Chr20:57428337 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.839+18C>T single nucleotide variant not provided [RCV002604840] Chr20:58909822 [GRCh38]
Chr20:57484877 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.127C>T (p.Leu43=) single nucleotide variant not provided [RCV002635293] Chr20:58891853 [GRCh38]
Chr20:57466908 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004786809]|not provided [RCV003050559] Chr20:58903581 [GRCh38]
Chr20:57478636 [GRCh37]
Chr20:20q13.32		 pathogenic|uncertain significance
NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly) single nucleotide variant not provided [RCV003129403] Chr20:58854728 [GRCh38]
Chr20:57429783 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.416T>C (p.Met139Thr) single nucleotide variant not provided [RCV003135407] Chr20:58853681 [GRCh38]
Chr20:57428736 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.286A>G (p.Lys96Glu) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004780732] Chr20:58903559 [GRCh38]
Chr20:57478614 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.424G>T (p.Gly142Ter) single nucleotide variant not provided [RCV004786209] Chr20:58853689 [GRCh38]
Chr20:57428744 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.338T>A (p.Leu113Gln) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004788513] Chr20:58903697 [GRCh38]
Chr20:57478752 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_016592.5(GNAS):c.175C>T (p.Gln59Ter) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004794727]|not specified [RCV005241039] Chr20:58840281 [GRCh38]
Chr20:57415336 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_080425.4(GNAS):c.849C>A (p.Ser283Arg) single nucleotide variant not provided [RCV004776747] Chr20:58854114 [GRCh38]
Chr20:57429169 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1154G>A (p.Arg385His) single nucleotide variant not provided [RCV003229204] Chr20:58910798 [GRCh38]
Chr20:57485853 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_016592.5(GNAS):c.4G>A (p.Asp2Asn) single nucleotide variant not provided [RCV003223097] Chr20:58840110 [GRCh38]
Chr20:57415165 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.298T>C (p.Cys100Arg) single nucleotide variant not provided [RCV003156589] Chr20:58840404 [GRCh38]
Chr20:57415459 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.780_786del (p.Ser261fs) deletion not provided [RCV003159357] Chr20:58854045..58854051 [GRCh38]
Chr20:57429100..57429106 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.437T>C (p.Phe146Ser) single nucleotide variant not provided [RCV003142562] Chr20:58905387 [GRCh38]
Chr20:57480442 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly) single nucleotide variant GNAS-related disorder [RCV004538926]|Pseudohypoparathyroidism type 1C [RCV003228649] Chr20:58840113 [GRCh38]
Chr20:57415168 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_016592.5(GNAS):c.616G>C (p.Glu206Gln) single nucleotide variant not provided [RCV003225304] Chr20:58840722 [GRCh38]
Chr20:57415777 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1165C>T (p.Arg389Cys) single nucleotide variant not provided [RCV003322995] Chr20:58910809 [GRCh38]
Chr20:57485864 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.605T>C (p.Val202Ala) single nucleotide variant not provided [RCV003318925] Chr20:58909369 [GRCh38]
Chr20:57484424 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg) single nucleotide variant GNAS-related disorder [RCV004723265]|Pseudohypoparathyroidism type I A [RCV003322695] Chr20:58909989 [GRCh38]
Chr20:57485044 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys) single nucleotide variant not provided [RCV003325148] Chr20:58909200 [GRCh38]
Chr20:57484255 [GRCh37]
Chr20:20q13.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000516.7(GNAS):c.258-6C>G single nucleotide variant Pseudohypoparathyroidism type I A [RCV003320433] Chr20:58903525 [GRCh38]
Chr20:57478580 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1058C>T (p.Pro353Leu) single nucleotide variant not provided [RCV003322217] Chr20:58854323 [GRCh38]
Chr20:57429378 [GRCh37]
Chr20:20q13.32		 uncertain significance
GNAS, 4.7-KB DEL deletion Pseudohypoparathyroidism type 1B [RCV000001271] Chr20:20q13.2 pathogenic
NM_080425.4(GNAS):c.200C>T (p.Ala67Val) single nucleotide variant not provided [RCV003325073] Chr20:58853465 [GRCh38]
Chr20:57428520 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1366_1367insAGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCG (p.Ser455_Gly456insGluAlaAlaProAspAlaProAlaAspProAspSer) microsatellite GNAS-related disorder [RCV004529627]|not specified [RCV003331855] Chr20:58854596..58854597 [GRCh38]
Chr20:57429651..57429652 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu) single nucleotide variant Pseudohypoparathyroidism type 1C [RCV003335991] Chr20:58855264 [GRCh38]
Chr20:57430319 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33		 uncertain significance
NM_000516.7(GNAS):c.658del (p.His220fs) deletion Pseudohypoparathyroidism type I A [RCV003338035] Chr20:58909421 [GRCh38]
Chr20:57484476 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.97G>A (p.Asp33Asn) single nucleotide variant not provided [RCV003332510] Chr20:58891823 [GRCh38]
Chr20:57466878 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1530C>T (p.Val510=) single nucleotide variant GNAS-related disorder [RCV004528617] Chr20:58854795 [GRCh38]
Chr20:57429850 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.634GAG[1] (p.Glu213del) microsatellite GNAS-related disorder [RCV004531680] Chr20:58840738..58840740 [GRCh38]
Chr20:57415793..57415795 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-5457AGA[2] microsatellite not provided [RCV003431381] Chr20:58890155..58890157 [GRCh38]
Chr20:57465210..57465212 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.925T>C (p.Phe309Leu) single nucleotide variant GNAS-related disorder [RCV004536657] Chr20:58854190 [GRCh38]
Chr20:57429245 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-5679A>C single nucleotide variant not provided [RCV003431379] Chr20:58889933 [GRCh38]
Chr20:57464988 [GRCh37]
Chr20:20q13.32		 benign
NM_016592.5(GNAS):c.720C>G (p.Ile240Met) single nucleotide variant GNAS-related disorder [RCV004527885] Chr20:58840826 [GRCh38]
Chr20:57415881 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1453G>A (p.Ala485Thr) single nucleotide variant GNAS-related disorder [RCV004527898] Chr20:58854718 [GRCh38]
Chr20:57429773 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATTC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspSerAsp) insertion GNAS-related disorder [RCV004531732] Chr20:58854658..58854659 [GRCh38]
Chr20:57429713..57429714 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.745G>C (p.Val249Leu) single nucleotide variant GNAS-related disorder [RCV004531577] Chr20:58854010 [GRCh38]
Chr20:57429065 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1719C>T (p.Asp573=) single nucleotide variant GNAS-related disorder [RCV004538962] Chr20:58854984 [GRCh38]
Chr20:57430039 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1420C>T (p.Pro474Ser) single nucleotide variant GNAS-related disorder [RCV004536751] Chr20:58854685 [GRCh38]
Chr20:57429740 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.265G>A (p.Gly89Arg) single nucleotide variant GNAS-related disorder [RCV004531731] Chr20:58853530 [GRCh38]
Chr20:57428585 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.586G>A (p.Asp196Asn) single nucleotide variant not provided [RCV003332808] Chr20:58909350 [GRCh38]
Chr20:57484405 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.397G>C (p.Ala133Pro) single nucleotide variant GNAS-related disorder [RCV004527988] Chr20:58853662 [GRCh38]
Chr20:57428717 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1352C>G (p.Ala451Gly) single nucleotide variant GNAS-related disorder [RCV004528598] Chr20:58854617 [GRCh38]
Chr20:57429672 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1516C>T (p.Arg506Trp) single nucleotide variant GNAS-related disorder [RCV004534319] Chr20:58854781 [GRCh38]
Chr20:57429836 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys) single nucleotide variant Pseudopseudohypoparathyroidism [RCV003333319] Chr20:58909958 [GRCh38]
Chr20:57485013 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-5306C>T single nucleotide variant not provided [RCV003457095] Chr20:58890306 [GRCh38]
Chr20:57465361 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.347_348dup (p.Val117fs) duplication not provided [RCV003457335] Chr20:58903701..58903702 [GRCh38]
Chr20:57478756..57478757 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.445_446del (p.His149fs) deletion McCune-Albright syndrome [RCV005038830]|not provided [RCV004778758] Chr20:58905395..58905396 [GRCh38]
Chr20:57480450..57480451 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.888_890del (p.Leu297del) deletion not provided [RCV003570453] Chr20:58909997..58909999 [GRCh38]
Chr20:57485052..57485054 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.816G>A (p.Ala272=) single nucleotide variant GNAS-related disorder [RCV004529364] Chr20:58854081 [GRCh38]
Chr20:57429136 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.598G>A (p.Glu200Lys) single nucleotide variant GNAS-related disorder [RCV004534206] Chr20:58853863 [GRCh38]
Chr20:57428918 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_080425.4(GNAS):c.1448G>A (p.Arg483Gln) single nucleotide variant GNAS-related disorder [RCV004531665] Chr20:58854713 [GRCh38]
Chr20:57429768 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1323CGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCC[1] (p.443SGAAPDAPADPD[1]) microsatellite GNAS-related disorder [RCV004531707] Chr20:58854573..58854608 [GRCh38]
Chr20:57429628..57429663 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1681_1682delinsTT (p.Arg561Phe) indel GNAS-related disorder [RCV004536720]|Pseudopseudohypoparathyroidism [RCV004560166] Chr20:58854946..58854947 [GRCh38]
Chr20:57430001..57430002 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-5316_2069-5305del deletion not provided [RCV003431382] Chr20:58890286..58890297 [GRCh38]
Chr20:57465341..57465352 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.*42+10000C>T single nucleotide variant not provided [RCV003440457] Chr20:58850886 [GRCh38]
Chr20:57425941 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.2069-5304_2069-5281del deletion not provided [RCV003440462] Chr20:58890288..58890311 [GRCh38]
Chr20:57465343..57465366 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_080425.4(GNAS):c.338G>C (p.Gly113Ala) single nucleotide variant not provided [RCV003443665] Chr20:58853603 [GRCh38]
Chr20:57428658 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.380G>C (p.Arg127Thr) single nucleotide variant Pseudohypoparathyroidism type I A [RCV003458970] Chr20:58903739 [GRCh38]
Chr20:57478794 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.531C>G (p.Arg177=) single nucleotide variant not provided [RCV003457334] Chr20:58840637 [GRCh38]
Chr20:57415692 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.320T>G (p.Val107Gly) single nucleotide variant Pseudopseudohypoparathyroidism [RCV003455836] Chr20:58903679 [GRCh38]
Chr20:57478734 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.923C>T (p.Pro308Leu) single nucleotide variant not specified [RCV003479872] Chr20:58854188 [GRCh38]
Chr20:57429243 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.127C>T (p.Arg43Cys) single nucleotide variant GNAS-related disorder [RCV004529666] Chr20:58840233 [GRCh38]
Chr20:57415288 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.82A>T (p.Lys28Ter) single nucleotide variant GNAS-related disorder [RCV004534334] Chr20:58891808 [GRCh38]
Chr20:57466863 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_080425.4(GNAS):c.1280C>A (p.Ala427Asp) single nucleotide variant GNAS-related disorder [RCV004528728] Chr20:58854545 [GRCh38]
Chr20:57429600 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_080425.4(GNAS):c.1787G>A (p.Arg596Gln) single nucleotide variant GNAS-related disorder [RCV004534198] Chr20:58855052 [GRCh38]
Chr20:57430107 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.326C>A (p.Pro109His) single nucleotide variant GNAS-related disorder [RCV004538967] Chr20:58853591 [GRCh38]
Chr20:57428646 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.398C>T (p.Pro133Leu) single nucleotide variant GNAS-related disorder [RCV004534356] Chr20:58840504 [GRCh38]
Chr20:57415559 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.531-1162A>C single nucleotide variant not provided [RCV003431383] Chr20:58908000 [GRCh38]
Chr20:57483055 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_080425.4(GNAS):c.234T>C (p.Phe78=) single nucleotide variant GNAS-related disorder [RCV004528595] Chr20:58853499 [GRCh38]
Chr20:57428554 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.44A>G (p.His15Arg) single nucleotide variant GNAS-related disorder [RCV004536638] Chr20:58840150 [GRCh38]
Chr20:57415205 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.713G>T (p.Gly238Val) single nucleotide variant GNAS-related disorder [RCV004528549] Chr20:58840819 [GRCh38]
Chr20:57415874 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.556C>G (p.Pro186Ala) single nucleotide variant GNAS-related disorder [RCV004528553] Chr20:58853821 [GRCh38]
Chr20:57428876 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1323CGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCC[3] (p.Asp466_Ala467insSerGlyAlaAlaProAspAlaProAlaAspProAsp) microsatellite GNAS-related disorder [RCV004529334] Chr20:58854572..58854573 [GRCh38]
Chr20:57429627..57429628 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1302C>A (p.Ala434=) single nucleotide variant GNAS-related disorder [RCV004534219] Chr20:58854567 [GRCh38]
Chr20:57429622 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.72A>G (p.Ile24Met) single nucleotide variant GNAS-related disorder [RCV004529269] Chr20:58840178 [GRCh38]
Chr20:57415233 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.455G>A (p.Gly152Glu) single nucleotide variant GNAS-related disorder [RCV004528618] Chr20:58853720 [GRCh38]
Chr20:57428775 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.355G>C (p.Glu119Gln) single nucleotide variant GNAS-related disorder [RCV004531695] Chr20:58853620 [GRCh38]
Chr20:57428675 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.412G>A (p.Glu138Lys) single nucleotide variant GNAS-related disorder [RCV004531670] Chr20:58840518 [GRCh38]
Chr20:57415573 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.677T>C (p.Phe226Ser) single nucleotide variant GNAS-related disorder [RCV004531684] Chr20:58853942 [GRCh38]
Chr20:57428997 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1682G>A (p.Arg561His) single nucleotide variant GNAS-related disorder [RCV004531691] Chr20:58854947 [GRCh38]
Chr20:57430002 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.184G>A (p.Glu62Lys) single nucleotide variant GNAS-related disorder [RCV004534309] Chr20:58853449 [GRCh38]
Chr20:57428504 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.888G>T (p.Thr296=) single nucleotide variant GNAS-related disorder [RCV004538975] Chr20:58854153 [GRCh38]
Chr20:57429208 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.563G>A (p.Gly188Asp) single nucleotide variant GNAS-related disorder [RCV004534347] Chr20:58853828 [GRCh38]
Chr20:57428883 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.111T>C (p.Ala37=) single nucleotide variant not provided [RCV003440458] Chr20:58853376 [GRCh38]
Chr20:57428431 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2069-5657_2069-5646del deletion not provided [RCV003440459] Chr20:58889946..58889957 [GRCh38]
Chr20:57465001..57465012 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_080425.4(GNAS):c.2069-5515A>C single nucleotide variant not provided [RCV003431380] Chr20:58890097 [GRCh38]
Chr20:57465152 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.334G>C (p.Glu112Gln) single nucleotide variant not provided [RCV003440454] Chr20:58840440 [GRCh38]
Chr20:57415495 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.*42+9924G>A single nucleotide variant not provided [RCV003440456] Chr20:58850810 [GRCh38]
Chr20:57425865 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.2069-5435G>A single nucleotide variant not provided [RCV003440460] Chr20:58890177 [GRCh38]
Chr20:57465232 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.-23_-14del deletion not provided [RCV003440464] Chr20:58891699..58891708 [GRCh38]
Chr20:57466754..57466763 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_016592.5(GNAS):c.364G>A (p.Glu122Lys) single nucleotide variant not provided [RCV003440455] Chr20:58840470 [GRCh38]
Chr20:57415525 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2069-5337C>A single nucleotide variant not provided [RCV003440461] Chr20:58890275 [GRCh38]
Chr20:57465330 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_016592.5(GNAS):c.354_383del (p.Ile119_Glu128del) deletion not provided [RCV003443705] Chr20:58840456..58840485 [GRCh38]
Chr20:57415511..57415540 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.967G>C (p.Asp323His) single nucleotide variant Pseudohypoparathyroidism type I A [RCV003444501] Chr20:58910078 [GRCh38]
Chr20:57485133 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1018_1020dup (p.Phe340_Ile341insPhe) duplication GNAS-related disorder [RCV004527838] Chr20:58910379..58910380 [GRCh38]
Chr20:57485434..57485435 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.330G>C (p.Met110Ile) single nucleotide variant GNAS-related disorder [RCV004536731] Chr20:58903689 [GRCh38]
Chr20:57478744 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.707A>C (p.Gln236Pro) single nucleotide variant GNAS-related disorder [RCV004528605] Chr20:58909568 [GRCh38]
Chr20:57484623 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.506A>G (p.Tyr169Cys) single nucleotide variant not provided [RCV004590691] Chr20:58905456 [GRCh38]
Chr20:57480511 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.819C>G (p.Phe273Leu) single nucleotide variant Disorders of GNAS Inactivation [RCV003389351] Chr20:58909784 [GRCh38]
Chr20:57484839 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.1860C>T (p.Phe620=) single nucleotide variant GNAS-related disorder [RCV004534369] Chr20:58855125 [GRCh38]
Chr20:57430180 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1532G>C (p.Arg511Pro) single nucleotide variant GNAS-related disorder [RCV004527877] Chr20:58854797 [GRCh38]
Chr20:57429852 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1364C>T (p.Ser455Phe) single nucleotide variant GNAS-related disorder [RCV004531713] Chr20:58854629 [GRCh38]
Chr20:57429684 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.611C>T (p.Pro204Leu) single nucleotide variant GNAS-related disorder [RCV004531561] Chr20:58840717 [GRCh38]
Chr20:57415772 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.286C>G (p.Pro96Ala) single nucleotide variant GNAS-related disorder [RCV004534337] Chr20:58853551 [GRCh38]
Chr20:57428606 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1307_1342del (p.Ala436_Pro447del) deletion GNAS-related disorder [RCV004529735] Chr20:58854565..58854600 [GRCh38]
Chr20:57429620..57429655 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.701C>T (p.Pro234Leu) single nucleotide variant GNAS-related disorder [RCV004531685] Chr20:58840807 [GRCh38]
Chr20:57415862 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.631A>G (p.Lys211Glu) single nucleotide variant GNAS-related disorder [RCV004531712] Chr20:58840737 [GRCh38]
Chr20:57415792 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.531-1143G>A single nucleotide variant not provided [RCV003440465] Chr20:58908019 [GRCh38]
Chr20:57483074 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.529T>A (p.Tyr177Asn) single nucleotide variant GNAS-related disorder [RCV004531721]|McCune-Albright syndrome [RCV005036788] Chr20:58905479 [GRCh38]
Chr20:57480534 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.568T>G (p.Tyr190Asp) single nucleotide variant not provided [RCV003441405] Chr20:58909199 [GRCh38]
Chr20:57484254 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.703GAC[1] (p.Asp236del) microsatellite GNAS-related disorder [RCV004531697] Chr20:58853968..58853970 [GRCh38]
Chr20:57429023..57429025 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-4915C>T single nucleotide variant not provided [RCV003440463] Chr20:58890697 [GRCh38]
Chr20:57465752 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.666dup (p.Asp223Ter) duplication GNAS-related disorder [RCV004528631] Chr20:58909524..58909525 [GRCh38]
Chr20:57484579..57484580 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.543C>T (p.Val181=) single nucleotide variant not specified [RCV003489711] Chr20:58853808 [GRCh38]
Chr20:57428863 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1038+3G>A single nucleotide variant not provided [RCV003575259] Chr20:58910404 [GRCh38]
Chr20:57485459 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1144A>T (p.Ile382Phe) single nucleotide variant not provided [RCV003578954] Chr20:58910788 [GRCh38]
Chr20:57485843 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.989A>G (p.Glu330Gly) single nucleotide variant not provided [RCV003576526] Chr20:58910352 [GRCh38]
Chr20:57485407 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.312+7G>T single nucleotide variant not provided [RCV003715325] Chr20:58903592 [GRCh38]
Chr20:57478647 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.432+11C>T single nucleotide variant not provided [RCV003662267] Chr20:58903802 [GRCh38]
Chr20:57478857 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.651C>T (p.Val217=) single nucleotide variant not provided [RCV003740195] Chr20:58909415 [GRCh38]
Chr20:57484470 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.531-105_599del deletion not provided [RCV003689459] Chr20:58909054..58909360 [GRCh38]
Chr20:57484109..57484415 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.46G>A (p.Glu16Lys) single nucleotide variant not provided [RCV003879558] Chr20:58891772 [GRCh38]
Chr20:57466827 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.585+12C>T single nucleotide variant McCune-Albright syndrome [RCV005038539]|not provided [RCV003825320] Chr20:58909228 [GRCh38]
Chr20:57484283 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_000516.7(GNAS):c.415G>A (p.Asp139Asn) single nucleotide variant not provided [RCV003662943] Chr20:58903774 [GRCh38]
Chr20:57478829 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu) single nucleotide variant Duane retraction syndrome [RCV003883442]|GNAS-related disorder [RCV004736429] Chr20:58840819 [GRCh38]
Chr20:57415874 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1717G>C (p.Asp573His) single nucleotide variant Duane retraction syndrome [RCV003883443]|GNAS-related disorder [RCV004736430] Chr20:58854982 [GRCh38]
Chr20:57430037 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.695G>A (p.Arg232His) single nucleotide variant McCune-Albright syndrome [RCV005030069]|not provided [RCV003543978] Chr20:58909556 [GRCh38]
Chr20:57484611 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.234G>A (p.Gln78=) single nucleotide variant not provided [RCV003571938] Chr20:58898962 [GRCh38]
Chr20:57474017 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.585+11C>A single nucleotide variant not provided [RCV003825446] Chr20:58909227 [GRCh38]
Chr20:57484282 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1038+1G>C single nucleotide variant not provided [RCV003693032] Chr20:58910402 [GRCh38]
Chr20:57485457 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.139+8_139+14dup duplication not provided [RCV003688251] Chr20:58891870..58891871 [GRCh38]
Chr20:57466925..57466926 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.408del (p.Asn136fs) deletion not provided [RCV003547221] Chr20:58903767 [GRCh38]
Chr20:57478822 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.574C>A (p.Pro192Thr) single nucleotide variant not provided [RCV003689295] Chr20:58909205 [GRCh38]
Chr20:57484260 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln) single nucleotide variant Duane retraction syndrome [RCV003883441]|GNAS-related disorder [RCV004736428] Chr20:58840410 [GRCh38]
Chr20:57415465 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.432+2T>C single nucleotide variant not provided [RCV003572029] Chr20:58903793 [GRCh38]
Chr20:57478848 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.-1_2del (p.Met1del) deletion not provided [RCV003689379] Chr20:58891726..58891728 [GRCh38]
Chr20:57466781..57466783 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.150_154del (p.Glu50_Ser51insTer) deletion not provided [RCV003692139] Chr20:58895622..58895626 [GRCh38]
Chr20:57470677..57470681 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.915A>G (p.Lys305=) single nucleotide variant not provided [RCV003661773] Chr20:58910026 [GRCh38]
Chr20:57485081 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.718+18T>C single nucleotide variant not provided [RCV003880036] Chr20:58909597 [GRCh38]
Chr20:57484652 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1110_1111del (p.Asn371fs) microsatellite GNAS-related disorder [RCV004736373]|not provided [RCV003692597] Chr20:58910752..58910753 [GRCh38]
Chr20:57485807..57485808 [GRCh37]
Chr20:20q13.32		 pathogenic|likely pathogenic
NM_000516.7(GNAS):c.1011C>T (p.Ala337=) single nucleotide variant not provided [RCV003827903] Chr20:58910374 [GRCh38]
Chr20:57485429 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.84G>A (p.Lys28=) single nucleotide variant not provided [RCV003690239] Chr20:58891810 [GRCh38]
Chr20:57466865 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.927C>T (p.Phe309=) single nucleotide variant GNAS-related disorder [RCV004539043]|not provided [RCV003572053] Chr20:58854192 [GRCh38]
Chr20:57429247 [GRCh37]
Chr20:20q13.32		 benign|likely benign
NM_000516.7(GNAS):c.970+1G>A single nucleotide variant not provided [RCV003580842] Chr20:58910082 [GRCh38]
Chr20:57485137 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.312+12C>T single nucleotide variant not provided [RCV005062237] Chr20:58903597 [GRCh38]
Chr20:57478652 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.476T>A (p.Val159Glu) single nucleotide variant not provided [RCV003701335] Chr20:58905426 [GRCh38]
Chr20:57480481 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.432+14C>T single nucleotide variant not provided [RCV003701116] Chr20:58903805 [GRCh38]
Chr20:57478860 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1147del (p.Ile383fs) deletion not provided [RCV003550025] Chr20:58910791 [GRCh38]
Chr20:57485846 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.507C>T (p.Tyr169=) single nucleotide variant not provided [RCV003849983] Chr20:58905457 [GRCh38]
Chr20:57480512 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.718+8G>A single nucleotide variant GNAS-related disorder [RCV004736411]|not provided [RCV003812107] Chr20:58909587 [GRCh38]
Chr20:57484642 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.257+4G>A single nucleotide variant not provided [RCV003833153] Chr20:58898989 [GRCh38]
Chr20:57474044 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1120C>T (p.Arg374Cys) single nucleotide variant not provided [RCV003549730] Chr20:58910764 [GRCh38]
Chr20:57485819 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.719-6G>C single nucleotide variant not provided [RCV003725094] Chr20:58909678 [GRCh38]
Chr20:57484733 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.661dup (p.Met221fs) duplication not provided [RCV003561669] Chr20:58909521..58909522 [GRCh38]
Chr20:57484576..57484577 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.93G>C (p.Gln31His) single nucleotide variant not provided [RCV003699155] Chr20:58891819 [GRCh38]
Chr20:57466874 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.531-19G>A single nucleotide variant not provided [RCV003816216] Chr20:58909143 [GRCh38]
Chr20:57484198 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.12C>T (p.Leu4=) single nucleotide variant not provided [RCV003833880] Chr20:58891738 [GRCh38]
Chr20:57466793 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.258-19C>G single nucleotide variant not provided [RCV003665725] Chr20:58903512 [GRCh38]
Chr20:57478567 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.971-4A>G single nucleotide variant not provided [RCV003816528] Chr20:58910330 [GRCh38]
Chr20:57485385 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.312+5G>C single nucleotide variant not provided [RCV003560147] Chr20:58903590 [GRCh38]
Chr20:57478645 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.659+22dup duplication not provided [RCV003723359] Chr20:58909440..58909441 [GRCh38]
Chr20:57484495..57484496 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.718+13_718+24del deletion not provided [RCV003717568] Chr20:58909587..58909598 [GRCh38]
Chr20:57484642..57484653 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+23_139+26del deletion not provided [RCV003723753] Chr20:58891885..58891888 [GRCh38]
Chr20:57466940..57466943 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.257+16del deletion not provided [RCV003667221] Chr20:58898998 [GRCh38]
Chr20:57474053 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.660-8C>T single nucleotide variant not provided [RCV003725579] Chr20:58909513 [GRCh38]
Chr20:57484568 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.864C>T (p.Ile288=) single nucleotide variant not provided [RCV003698206] Chr20:58909975 [GRCh38]
Chr20:57485030 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.586-6T>C single nucleotide variant not provided [RCV003832489] Chr20:58909344 [GRCh38]
Chr20:57484399 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.432+16A>C single nucleotide variant not provided [RCV003837918] Chr20:58903807 [GRCh38]
Chr20:57478862 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.332G>A (p.Ser111Asn) single nucleotide variant not provided [RCV003701775] Chr20:58903691 [GRCh38]
Chr20:57478746 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.732C>T (p.Ile244=) single nucleotide variant not provided [RCV003839103] Chr20:58909697 [GRCh38]
Chr20:57484752 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.167T>C (p.Ile56Thr) single nucleotide variant not provided [RCV003560146] Chr20:58895639 [GRCh38]
Chr20:57470694 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.952T>C (p.Tyr318His) single nucleotide variant not provided [RCV003560149] Chr20:58910063 [GRCh38]
Chr20:57485118 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.585+13C>T single nucleotide variant not provided [RCV003836616] Chr20:58909229 [GRCh38]
Chr20:57484284 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.123C>T (p.His41=) single nucleotide variant not provided [RCV003734443] Chr20:58891849 [GRCh38]
Chr20:57466904 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.889C>A (p.Leu297Ile) single nucleotide variant not provided [RCV003678667] Chr20:58910000 [GRCh38]
Chr20:57485055 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.508C>T (p.Gln170Ter) single nucleotide variant not provided [RCV003567921] Chr20:58905458 [GRCh38]
Chr20:57480513 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.313-2A>C single nucleotide variant not provided [RCV003681143] Chr20:58903670 [GRCh38]
Chr20:57478725 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.342G>A (p.Val114=) single nucleotide variant not provided [RCV003728529] Chr20:58903701 [GRCh38]
Chr20:57478756 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1032G>A (p.Glu344=) single nucleotide variant not provided [RCV003675042] Chr20:58910395 [GRCh38]
Chr20:57485450 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.140-4C>T single nucleotide variant not provided [RCV003674898] Chr20:58895608 [GRCh38]
Chr20:57470663 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.441del (p.Phe146_Tyr147insTer) deletion not provided [RCV003550699] Chr20:58905391 [GRCh38]
Chr20:57480446 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.133C>T (p.Leu45=) single nucleotide variant GNAS-related disorder [RCV004542307]|not provided [RCV003858602] Chr20:58891859 [GRCh38]
Chr20:57466914 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.393_394delinsTT (p.Ile131_Leu132=) indel not provided [RCV003733015] Chr20:58903752..58903753 [GRCh38]
Chr20:57478807..57478808 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.313-3_313-2del deletion not provided [RCV003683464] Chr20:58903669..58903670 [GRCh38]
Chr20:57478724..57478725 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.531-13_531-11del deletion not provided [RCV003861821] Chr20:58909147..58909149 [GRCh38]
Chr20:57484202..57484204 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.432+3A>G single nucleotide variant not provided [RCV003556740] Chr20:58903794 [GRCh38]
Chr20:57478849 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.27C>T (p.Thr9=) single nucleotide variant not provided [RCV003682609] Chr20:58891753 [GRCh38]
Chr20:57466808 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.660-14C>G single nucleotide variant not provided [RCV003707871] Chr20:58909507 [GRCh38]
Chr20:57484562 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1017C>T (p.Tyr339=) single nucleotide variant GNAS-related disorder [RCV004539079]|not provided [RCV003707543] Chr20:58910380 [GRCh38]
Chr20:57485435 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.231G>A (p.Pro77=) single nucleotide variant not provided [RCV003819349] Chr20:58898959 [GRCh38]
Chr20:57474014 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.257+970_257+972del microsatellite GNAS-related disorder [RCV004532248]|Pseudohypoparathyroidism type 1B [RCV003989869] Chr20:58899952..58899954 [GRCh38]
Chr20:57475007..57475009 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.719-6G>A single nucleotide variant not provided [RCV003542682] Chr20:58909678 [GRCh38]
Chr20:57484733 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.871C>T (p.Leu291Phe) single nucleotide variant not provided [RCV003868152] Chr20:58909982 [GRCh38]
Chr20:57485037 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.258-20T>G single nucleotide variant not provided [RCV003683308] Chr20:58903511 [GRCh38]
Chr20:57478566 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.996A>G (p.Pro332=) single nucleotide variant not provided [RCV003677958] Chr20:58910359 [GRCh38]
Chr20:57485414 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+14G>C single nucleotide variant not provided [RCV003867189] Chr20:58891879 [GRCh38]
Chr20:57466934 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.731T>A (p.Ile244Asn) single nucleotide variant not provided [RCV003564527] Chr20:58909696 [GRCh38]
Chr20:57484751 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.489C>T (p.Tyr163=) single nucleotide variant GNAS-related disorder [RCV004736357]|not provided [RCV003563275] Chr20:58905439 [GRCh38]
Chr20:57480494 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.66C>T (p.Ala22=) single nucleotide variant not provided [RCV003843212] Chr20:58891792 [GRCh38]
Chr20:57466847 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.15G>A (p.Gly5=) single nucleotide variant GNAS-related disorder [RCV004539083]|not provided [RCV003719978] Chr20:58891741 [GRCh38]
Chr20:57466796 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.550G>A (p.Val184Met) single nucleotide variant GNAS-related disorder [RCV004736422]|not provided [RCV003865528] Chr20:58909181 [GRCh38]
Chr20:57484236 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1039-20C>A single nucleotide variant not provided [RCV003711912] Chr20:58910663 [GRCh38]
Chr20:57485718 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.878del (p.Lys293fs) deletion not provided [RCV003550479] Chr20:58909988 [GRCh38]
Chr20:57485043 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.217G>T (p.Gly73Cys) single nucleotide variant not provided [RCV003685588] Chr20:58898945 [GRCh38]
Chr20:57474000 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.840-20C>T single nucleotide variant not provided [RCV003852930] Chr20:58909931 [GRCh38]
Chr20:57484986 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.660-10dup duplication not provided [RCV003567160] Chr20:58909510..58909511 [GRCh38]
Chr20:57484565..57484566 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.839+20A>G single nucleotide variant not provided [RCV003710616] Chr20:58909824 [GRCh38]
Chr20:57484879 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+5GGGC[3] microsatellite not provided [RCV003705359] Chr20:58891869..58891870 [GRCh38]
Chr20:57466924..57466925 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.576G>A (p.Pro192=) single nucleotide variant GNAS-related disorder [RCV004736423]|not provided [RCV003861546] Chr20:58909207 [GRCh38]
Chr20:57484262 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+20_139+25dup duplication not provided [RCV003705349] Chr20:58891881..58891882 [GRCh38]
Chr20:57466936..57466937 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg) single nucleotide variant McCune-Albright syndrome [RCV005030172]|not provided [RCV003706558] Chr20:58903551 [GRCh38]
Chr20:57478606 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.794_795dup (p.Leu266fs) duplication not provided [RCV003566460] Chr20:58909757..58909758 [GRCh38]
Chr20:57484812..57484813 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.140-16T>G single nucleotide variant not provided [RCV003866540] Chr20:58895596 [GRCh38]
Chr20:57470651 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.432+17C>A single nucleotide variant not provided [RCV003863319] Chr20:58903808 [GRCh38]
Chr20:57478863 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1398T>C (p.Asp466=) single nucleotide variant GNAS-related disorder [RCV004542532] Chr20:58854663 [GRCh38]
Chr20:57429718 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1594A>G (p.Ser532Gly) single nucleotide variant not provided [RCV003887384] Chr20:58854859 [GRCh38]
Chr20:57429914 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.*10C>G single nucleotide variant GNAS-related disorder [RCV004532003] Chr20:58910839 [GRCh38]
Chr20:57485894 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.195C>T (p.Gly65=) single nucleotide variant GNAS-related disorder [RCV004536888]|not provided [RCV004723538] Chr20:58853460 [GRCh38]
Chr20:57428515 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_016592.5(GNAS):c.206A>T (p.His69Leu) single nucleotide variant GNAS-related disorder [RCV004537052]|not provided [RCV005230604] Chr20:58840312 [GRCh38]
Chr20:57415367 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_080425.4(GNAS):c.939C>G (p.Ser313Arg) single nucleotide variant GNAS-related disorder [RCV004542411] Chr20:58854204 [GRCh38]
Chr20:57429259 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.628G>A (p.Ala210Thr) single nucleotide variant GNAS-related disorder [RCV004543938] Chr20:58853893 [GRCh38]
Chr20:57428948 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.628G>T (p.Ala210Ser) single nucleotide variant GNAS-related disorder [RCV004532139] Chr20:58853893 [GRCh38]
Chr20:57428948 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1064A>G (p.Glu355Gly) single nucleotide variant GNAS-related disorder [RCV004542402] Chr20:58854329 [GRCh38]
Chr20:57429384 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1534C>T (p.Arg512Trp) single nucleotide variant GNAS-related disorder [RCV004542335]|Pseudopseudohypoparathyroidism [RCV005052076] Chr20:58854799 [GRCh38]
Chr20:57429854 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_080425.4(GNAS):c.1479C>T (p.Asp493=) single nucleotide variant GNAS-related disorder [RCV004542332] Chr20:58854744 [GRCh38]
Chr20:57429799 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.126C>T (p.Leu42=) single nucleotide variant GNAS-related disorder [RCV004545548] Chr20:58840232 [GRCh38]
Chr20:57415287 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.366G>C (p.Glu122Asp) single nucleotide variant GNAS-related disorder [RCV004544110]|not provided [RCV005412638] Chr20:58840472 [GRCh38]
Chr20:57415527 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer) deletion Pseudohypoparathyroidism type 1B [RCV003990730] Chr20:58853913 [GRCh38]
Chr20:57428968 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.945C>T (p.Pro315=) single nucleotide variant GNAS-related disorder [RCV004542586] Chr20:58854210 [GRCh38]
Chr20:57429265 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.805G>A (p.Ala269Thr) single nucleotide variant GNAS-related disorder [RCV004540941] Chr20:58854070 [GRCh38]
Chr20:57429125 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.768G>C (p.Ala256=) single nucleotide variant GNAS-related disorder [RCV004534671] Chr20:58854033 [GRCh38]
Chr20:57429088 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.369C>A (p.Thr123=) single nucleotide variant GNAS-related disorder [RCV004531818] Chr20:58840475 [GRCh38]
Chr20:57415530 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1732G>A (p.Gly578Arg) single nucleotide variant GNAS-related disorder [RCV004531792] Chr20:58854997 [GRCh38]
Chr20:57430052 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1571G>A (p.Arg524His) single nucleotide variant GNAS-related disorder [RCV004531923] Chr20:58854836 [GRCh38]
Chr20:57429891 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.257+974C>T single nucleotide variant GNAS-related disorder [RCV004544170] Chr20:58899959 [GRCh38]
Chr20:57475014 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.453G>A (p.Lys151=) single nucleotide variant GNAS-related disorder [RCV004537090] Chr20:58840559 [GRCh38]
Chr20:57415614 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.783G>A (p.Ser261=) single nucleotide variant GNAS-related disorder [RCV004537005] Chr20:58854048 [GRCh38]
Chr20:57429103 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.747C>T (p.Ala249=) single nucleotide variant GNAS-related disorder [RCV004540746] Chr20:58909712 [GRCh38]
Chr20:57484767 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1886A>C (p.Lys629Thr) single nucleotide variant GNAS-related disorder [RCV004537045]|Pseudohypoparathyroidism type 1B [RCV004560327] Chr20:58855151 [GRCh38]
Chr20:57430206 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1440T>A (p.Ala480=) single nucleotide variant GNAS-related disorder [RCV004539413] Chr20:58854705 [GRCh38]
Chr20:57429760 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1164G>A (p.Ala388=) single nucleotide variant GNAS-related disorder [RCV004539450] Chr20:58854429 [GRCh38]
Chr20:57429484 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.168C>T (p.Asn56=) single nucleotide variant GNAS-related disorder [RCV004539516] Chr20:58853433 [GRCh38]
Chr20:57428488 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.-58G>A single nucleotide variant GNAS-related disorder [RCV004532172] Chr20:58853208 [GRCh38]
Chr20:57428263 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1923G>C (p.Leu641=) single nucleotide variant GNAS-related disorder [RCV004532184]|not provided [RCV005256952] Chr20:58855188 [GRCh38]
Chr20:57430243 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.505C>T (p.Arg169Ter) single nucleotide variant GNAS-related disorder [RCV004542355] Chr20:58840611 [GRCh38]
Chr20:57415666 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-5346_2069-5335del deletion not provided [RCV003993205] Chr20:58890256..58890267 [GRCh38]
Chr20:57465311..57465322 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.685G>C (p.Ala229Pro) single nucleotide variant GNAS-related disorder [RCV004545531] Chr20:58840791 [GRCh38]
Chr20:57415846 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.231G>T (p.Pro77=) single nucleotide variant GNAS-related disorder [RCV004542428] Chr20:58898959 [GRCh38]
Chr20:57474014 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.570A>G (p.Glu190=) single nucleotide variant GNAS-related disorder [RCV004542557] Chr20:58840676 [GRCh38]
Chr20:57415731 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.-70T>C single nucleotide variant GNAS-related disorder [RCV004542494] Chr20:58853196 [GRCh38]
Chr20:57428251 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1491C>T (p.Pro497=) single nucleotide variant GNAS-related disorder [RCV004536910] Chr20:58854756 [GRCh38]
Chr20:57429811 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1803A>C (p.Arg601=) single nucleotide variant GNAS-related disorder [RCV004537070] Chr20:58855068 [GRCh38]
Chr20:57430123 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.26C>T (p.Thr9Ile) single nucleotide variant not provided [RCV003887214] Chr20:58891752 [GRCh38]
Chr20:57466807 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.60T>C (p.Arg20=) single nucleotide variant GNAS-related disorder [RCV004536983] Chr20:58891786 [GRCh38]
Chr20:57466841 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1729A>G (p.Ser577Gly) single nucleotide variant GNAS-related disorder [RCV004539481] Chr20:58854994 [GRCh38]
Chr20:57430049 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.780C>T (p.Asp260=) single nucleotide variant GNAS-related disorder [RCV004532198] Chr20:58909745 [GRCh38]
Chr20:57484800 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.645C>T (p.Asp215=) single nucleotide variant GNAS-related disorder [RCV004534505] Chr20:58909409 [GRCh38]
Chr20:57484464 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.21T>C (p.Ser7=) single nucleotide variant GNAS-related disorder [RCV004532151] Chr20:58891747 [GRCh38]
Chr20:57466802 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.-8C>T single nucleotide variant GNAS-related disorder [RCV004545688] Chr20:58891719 [GRCh38]
Chr20:57466774 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.854C>T (p.Ser285Phe) single nucleotide variant GNAS-related disorder [RCV004539523]|not specified [RCV005419741] Chr20:58854119 [GRCh38]
Chr20:57429174 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.774C>G (p.Val258=) single nucleotide variant GNAS-related disorder [RCV004532051] Chr20:58854039 [GRCh38]
Chr20:57429094 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.336C>A (p.Asn112Lys) single nucleotide variant GNAS-related disorder [RCV004534685] Chr20:58903695 [GRCh38]
Chr20:57478750 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.729G>A (p.Arg243=) single nucleotide variant GNAS-related disorder [RCV004534662] Chr20:58840835 [GRCh38]
Chr20:57415890 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.639G>A (p.Glu213=) single nucleotide variant GNAS-related disorder [RCV004537056]|not provided [RCV004598284] Chr20:58840745 [GRCh38]
Chr20:57415800 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.420del (p.Phe140fs) deletion GNAS-related disorder [RCV004542660] Chr20:58903777 [GRCh38]
Chr20:57478832 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.-18GCC[5] microsatellite GNAS-related disorder [RCV004542541] Chr20:58891707..58891709 [GRCh38]
Chr20:57466762..57466764 [GRCh37]
Chr20:20q13.32		 benign
NM_080425.4(GNAS):c.158C>G (p.Pro53Arg) single nucleotide variant GNAS-related disorder [RCV004531837] Chr20:58853423 [GRCh38]
Chr20:57428478 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1654C>T (p.Arg552Trp) single nucleotide variant GNAS-related disorder [RCV004537115] Chr20:58854919 [GRCh38]
Chr20:57429974 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1985A>G (p.Glu662Gly) single nucleotide variant GNAS-related disorder [RCV004537002] Chr20:58855250 [GRCh38]
Chr20:57430305 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.586-4T>G single nucleotide variant GNAS-related disorder [RCV004531899]|not provided [RCV005064723] Chr20:58909346 [GRCh38]
Chr20:57484401 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1980C>T (p.Arg660=) single nucleotide variant GNAS-related disorder [RCV004542449] Chr20:58855245 [GRCh38]
Chr20:57430300 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.581T>C (p.Val194Ala) single nucleotide variant GNAS-related disorder [RCV004537044] Chr20:58853846 [GRCh38]
Chr20:57428901 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1255G>T (p.Asp419Tyr) single nucleotide variant GNAS-related disorder [RCV004537024] Chr20:58854520 [GRCh38]
Chr20:57429575 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.266A>G (p.Glu89Gly) single nucleotide variant GNAS-related disorder [RCV004539478]|not provided [RCV005426266] Chr20:58840372 [GRCh38]
Chr20:57415427 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1150G>A (p.Gly384Arg) single nucleotide variant GNAS-related disorder [RCV004539427] Chr20:58854415 [GRCh38]
Chr20:57429470 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1306G>T (p.Ala436Ser) single nucleotide variant GNAS-related disorder [RCV004540920] Chr20:58854571 [GRCh38]
Chr20:57429626 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.139G>A (p.Gly47Ser) single nucleotide variant GNAS-related disorder [RCV004536906] Chr20:58891865 [GRCh38]
Chr20:57466920 [GRCh37]
Chr20:20q13.32		 likely pathogenic|uncertain significance
NM_000516.7(GNAS):c.432+14C>G single nucleotide variant not specified [RCV004526354] Chr20:58903805 [GRCh38]
Chr20:57478860 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.-3G>A single nucleotide variant GNAS-related disorder [RCV004532162] Chr20:58891724 [GRCh38]
Chr20:57466779 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.589G>A (p.Glu197Lys) single nucleotide variant GNAS-related disorder [RCV004544036] Chr20:58840695 [GRCh38]
Chr20:57415750 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.592G>A (p.Asp198Asn) single nucleotide variant GNAS-related disorder [RCV004542447]|not provided [RCV004585089] Chr20:58840698 [GRCh38]
Chr20:57415753 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1092C>G (p.Ala364=) single nucleotide variant not provided [RCV003887157] Chr20:58854357 [GRCh38]
Chr20:57429412 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.87G>A (p.Gln29=) single nucleotide variant GNAS-related disorder [RCV004537106]|not provided [RCV005242472] Chr20:58891813 [GRCh38]
Chr20:57466868 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1163C>A (p.Ala388Glu) single nucleotide variant GNAS-related disorder [RCV004540982] Chr20:58854428 [GRCh38]
Chr20:57429483 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.303A>G (p.Leu101=) single nucleotide variant GNAS-related disorder [RCV004539236] Chr20:58840409 [GRCh38]
Chr20:57415464 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.48C>G (p.Arg16=) single nucleotide variant GNAS-related disorder [RCV004531996] Chr20:58853313 [GRCh38]
Chr20:57428368 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.6C>T (p.Gly2=) single nucleotide variant GNAS-related disorder [RCV004534639] Chr20:58853271 [GRCh38]
Chr20:57428326 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1100_1132delinsATGTC (p.Val367fs) indel GNAS-related disorder [RCV004544207] Chr20:58910744..58910776 [GRCh38]
Chr20:57485799..57485831 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.140G>A (p.Gly47Asp) single nucleotide variant See cases [RCV003886327] Chr20:58895612 [GRCh38]
Chr20:57470667 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_016592.5(GNAS):c.511C>T (p.Pro171Ser) single nucleotide variant GNAS-related disorder [RCV004539250] Chr20:58840617 [GRCh38]
Chr20:57415672 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.366G>A (p.Glu122=) single nucleotide variant GNAS-related disorder [RCV004531919] Chr20:58840472 [GRCh38]
Chr20:57415527 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.88C>T (p.Leu30=) single nucleotide variant GNAS-related disorder [RCV004539527] Chr20:58891814 [GRCh38]
Chr20:57466869 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.27G>A (p.Gln9=) single nucleotide variant GNAS-related disorder [RCV004531914] Chr20:58840133 [GRCh38]
Chr20:57415188 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.723G>T (p.Gly241=) single nucleotide variant GNAS-related disorder [RCV004542535] Chr20:58853988 [GRCh38]
Chr20:57429043 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.41A>G (p.Asn14Ser) single nucleotide variant GNAS-related disorder [RCV004531806]|McCune-Albright syndrome [RCV005030358] Chr20:58891767 [GRCh38]
Chr20:57466822 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.139+9G>A single nucleotide variant GNAS-related disorder [RCV004531864] Chr20:58891874 [GRCh38]
Chr20:57466929 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1642G>C (p.Ala548Pro) single nucleotide variant not specified [RCV003988315] Chr20:58854907 [GRCh38]
Chr20:57429962 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.231del (p.Gln78fs) deletion McCune-Albright syndrome [RCV003988604] Chr20:58898959 [GRCh38]
Chr20:57474014 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.402G>A (p.Val134=) single nucleotide variant GNAS-related disorder [RCV004531990] Chr20:58903761 [GRCh38]
Chr20:57478816 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.286T>G (p.Ser96Ala) single nucleotide variant GNAS-related disorder [RCV004534447] Chr20:58840392 [GRCh38]
Chr20:57415447 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1830C>A (p.Asn610Lys) single nucleotide variant GNAS-related disorder [RCV004539256] Chr20:58855095 [GRCh38]
Chr20:57430150 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.621G>A (p.Ser207=) single nucleotide variant GNAS-related disorder [RCV004539260] Chr20:58840727 [GRCh38]
Chr20:57415782 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1517G>A (p.Arg506Gln) single nucleotide variant GNAS-related disorder [RCV004534482] Chr20:58854782 [GRCh38]
Chr20:57429837 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.642G>T (p.Lys214Asn) single nucleotide variant GNAS-related disorder [RCV004531856] Chr20:58840748 [GRCh38]
Chr20:57415803 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.23A>C (p.Gln8Pro) single nucleotide variant GNAS-related disorder [RCV004531847] Chr20:58840129 [GRCh38]
Chr20:57415184 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1513A>G (p.Thr505Ala) single nucleotide variant GNAS-related disorder [RCV004536955] Chr20:58854778 [GRCh38]
Chr20:57429833 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.724C>T (p.Leu242Phe) single nucleotide variant GNAS-related disorder [RCV004537009] Chr20:58853989 [GRCh38]
Chr20:57429044 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.-18GCC[4] microsatellite GNAS-related disorder [RCV004539475] Chr20:58891707..58891712 [GRCh38]
Chr20:57466762..57466767 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.585+3G>A single nucleotide variant GNAS-related disorder [RCV004534583]|not provided [RCV005101604] Chr20:58909219 [GRCh38]
Chr20:57484274 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_080425.4(GNAS):c.78C>A (p.Pro26=) single nucleotide variant GNAS-related disorder [RCV004539391] Chr20:58853343 [GRCh38]
Chr20:57428398 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.309C>T (p.Tyr103=) single nucleotide variant GNAS-related disorder [RCV004539461] Chr20:58840415 [GRCh38]
Chr20:57415470 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1797C>T (p.Arg599=) single nucleotide variant GNAS-related disorder [RCV004532153] Chr20:58855062 [GRCh38]
Chr20:57430117 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.506G>A (p.Arg169Gln) single nucleotide variant GNAS-related disorder [RCV004532175] Chr20:58840612 [GRCh38]
Chr20:57415667 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1299_1334del (p.Ala436_Pro447del) deletion GNAS-related disorder [RCV004532177] Chr20:58854542..58854577 [GRCh38]
Chr20:57429597..57429632 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1589C>G (p.Pro530Arg) single nucleotide variant GNAS-related disorder [RCV004543994] Chr20:58854854 [GRCh38]
Chr20:57429909 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.417C>A (p.Thr139=) single nucleotide variant GNAS-related disorder [RCV004532201] Chr20:58840523 [GRCh38]
Chr20:57415578 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1725C>T (p.Asp575=) single nucleotide variant GNAS-related disorder [RCV004532188] Chr20:58854990 [GRCh38]
Chr20:57430045 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.126C>T (p.Arg42=) single nucleotide variant GNAS-related disorder [RCV004532008] Chr20:58891852 [GRCh38]
Chr20:57466907 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.30G>A (p.Glu10=) single nucleotide variant GNAS-related disorder [RCV004534439] Chr20:58891756 [GRCh38]
Chr20:57466811 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.514A>G (p.Arg172Gly) single nucleotide variant GNAS-related disorder [RCV004544072] Chr20:58853779 [GRCh38]
Chr20:57428834 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.139+9_139+11del deletion GNAS-related disorder [RCV004536949] Chr20:58891874..58891876 [GRCh38]
Chr20:57466929..57466931 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1359C>T (p.Pro453=) single nucleotide variant GNAS-related disorder [RCV004542373] Chr20:58854624 [GRCh38]
Chr20:57429679 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.375C>T (p.Phe125=) single nucleotide variant GNAS-related disorder [RCV004544019] Chr20:58840481 [GRCh38]
Chr20:57415536 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1276G>A (p.Ala426Thr) single nucleotide variant GNAS-related disorder [RCV004544086] Chr20:58854541 [GRCh38]
Chr20:57429596 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1199C>A (p.Ala400Asp) single nucleotide variant GNAS-related disorder [RCV004540974] Chr20:58854464 [GRCh38]
Chr20:57429519 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1629G>A (p.Pro543=) single nucleotide variant GNAS-related disorder [RCV004545685] Chr20:58854894 [GRCh38]
Chr20:57429949 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.78C>A (p.Ile26=) single nucleotide variant GNAS-related disorder [RCV004543911] Chr20:58891804 [GRCh38]
Chr20:57466859 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.986C>A (p.Pro329Gln) single nucleotide variant not provided [RCV004592235] Chr20:58854251 [GRCh38]
Chr20:57429306 [GRCh37]
Chr20:20q13.32		 uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) copy number gain 20q13.13qter duplication [RCV004555205] Chr20:50805746..64334135 [GRCh38]
Chr20:20q13.13-13.33		 pathogenic
NM_080425.4(GNAS):c.2069-5298G>A single nucleotide variant not provided [RCV004546391] Chr20:58890314 [GRCh38]
Chr20:57465369 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-5205C>A single nucleotide variant not provided [RCV004585774] Chr20:58890407 [GRCh38]
Chr20:57465462 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1792C>T (p.Arg598Cys) single nucleotide variant McCune-Albright syndrome [RCV004566503] Chr20:58855057 [GRCh38]
Chr20:57430112 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.152C>G (p.Ser51Cys) single nucleotide variant Inborn genetic diseases [RCV004395442] Chr20:58895624 [GRCh38]
Chr20:57470679 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.716A>G (p.Asn239Ser) single nucleotide variant Inborn genetic diseases [RCV004395443] Chr20:58909577 [GRCh38]
Chr20:57484632 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.938del (p.Pro313fs) deletion not provided [RCV004697653] Chr20:58910048 [GRCh38]
Chr20:57485103 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.66C>G (p.Ala22=) single nucleotide variant GNAS-related disorder [RCV004736449]|not provided [RCV005103534]|not specified [RCV004690844] Chr20:58891792 [GRCh38]
Chr20:57466847 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.660-1G>A single nucleotide variant Inborn genetic diseases [RCV004629882] Chr20:58909520 [GRCh38]
Chr20:57484575 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_016592.5(GNAS):c.693G>A (p.Pro231=) single nucleotide variant not provided [RCV004585407] Chr20:58840799 [GRCh38]
Chr20:57415854 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.536C>T (p.Pro179Leu) single nucleotide variant Pseudopseudohypoparathyroidism [RCV004560433] Chr20:58840642 [GRCh38]
Chr20:57415697 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter) single nucleotide variant Pseudopseudohypoparathyroidism [RCV004577195] Chr20:58840140 [GRCh38]
Chr20:57415195 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.31_38del (p.Asp11fs) deletion Pseudohypoparathyroidism type I A [RCV004596056] Chr20:58891756..58891763 [GRCh38]
Chr20:57466811..57466818 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.699dup (p.Gly234fs) duplication not provided [RCV004573131] Chr20:58853961..58853962 [GRCh38]
Chr20:57429016..57429017 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.285C>T (p.Ser95=) single nucleotide variant GNAS-related disorder [RCV004736444]|Pseudopseudohypoparathyroidism [RCV004560396] Chr20:58853550 [GRCh38]
Chr20:57428605 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.212+3A>T single nucleotide variant not specified [RCV004597270] Chr20:58895687 [GRCh38]
Chr20:57470742 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.322G>C (p.Ala108Pro) single nucleotide variant not provided [RCV004699091] Chr20:58903681 [GRCh38]
Chr20:57478736 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.586G>A (p.Gly196Arg) single nucleotide variant GNAS-related disorder [RCV004735293] Chr20:58853851 [GRCh38]
Chr20:57428906 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.701G>C (p.Gly234Ala) single nucleotide variant GNAS-related disorder [RCV004735346] Chr20:58853966 [GRCh38]
Chr20:57429021 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2000del (p.Lys667fs) deletion GNAS-related disorder [RCV004735405] Chr20:58855264 [GRCh38]
Chr20:57430319 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.6T>C (p.Asp2=) single nucleotide variant GNAS-related disorder [RCV004735437] Chr20:58840112 [GRCh38]
Chr20:57415167 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1864C>G (p.Arg622Gly) single nucleotide variant GNAS-related disorder [RCV004735460] Chr20:58855129 [GRCh38]
Chr20:57430184 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1622C>G (p.Pro541Arg) single nucleotide variant GNAS-related disorder [RCV004735464] Chr20:58854887 [GRCh38]
Chr20:57429942 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.419_420del (p.Asp139_Phe140insTer) deletion GNAS-related disorder [RCV004727821] Chr20:58903777..58903778 [GRCh38]
Chr20:57478832..57478833 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_016592.5(GNAS):c.479C>T (p.Thr160Ile) single nucleotide variant GNAS-related disorder [RCV004736077] Chr20:58840585 [GRCh38]
Chr20:57415640 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1112G>A (p.Gly371Glu) single nucleotide variant GNAS-related disorder [RCV004736110] Chr20:58854377 [GRCh38]
Chr20:57429432 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1895G>A (p.Arg632His) single nucleotide variant GNAS-related disorder [RCV004736138] Chr20:58855160 [GRCh38]
Chr20:57430215 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1103C>G (p.Ala368Gly) single nucleotide variant GNAS-related disorder [RCV004736568] Chr20:58854368 [GRCh38]
Chr20:57429423 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.139+8_139+9del deletion GNAS-related disorder [RCV004735225] Chr20:58891872..58891873 [GRCh38]
Chr20:57466927..57466928 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.719-10T>G single nucleotide variant GNAS-related disorder [RCV004735267] Chr20:58909674 [GRCh38]
Chr20:57484729 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.*253T>C single nucleotide variant GNAS-related disorder [RCV004735288] Chr20:58911082 [GRCh38]
Chr20:57486137 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1170G>A (p.Gln390=) single nucleotide variant GNAS-related disorder [RCV004735429] Chr20:58910814 [GRCh38]
Chr20:57485869 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.997C>T (p.Arg333Cys) single nucleotide variant GNAS-related disorder [RCV004736574] Chr20:58910360 [GRCh38]
Chr20:57485415 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.10C>T (p.Leu4Phe) single nucleotide variant GNAS-related disorder [RCV004736637] Chr20:58891736 [GRCh38]
Chr20:57466791 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.909T>G (p.Ala303=) single nucleotide variant GNAS-related disorder [RCV004735297] Chr20:58910020 [GRCh38]
Chr20:57485075 [GRCh37]
Chr20:20q13.32		 likely benign
NR_002785.2(GNAS-AS1):n.819+1831C>T single nucleotide variant GNAS-AS1-related condition [RCV004758969] Chr20:58840106 [GRCh38]
Chr20:57415161 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.809C>T (p.Ala270Val) single nucleotide variant not provided [RCV004760257] Chr20:58854074 [GRCh38]
Chr20:57429129 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1084C>T (p.His362Tyr) single nucleotide variant GNAS-related disorder [RCV004735316] Chr20:58910728 [GRCh38]
Chr20:57485783 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.6C>G (p.Gly2=) single nucleotide variant GNAS-related disorder [RCV004735356] Chr20:58891732 [GRCh38]
Chr20:57466787 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.111_112delinsTA (p.Tyr37_Arg38=) indel GNAS-related disorder [RCV004735366] Chr20:58891837..58891838 [GRCh38]
Chr20:57466892..57466893 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.-5C>T single nucleotide variant GNAS-related disorder [RCV004735977] Chr20:58891722 [GRCh38]
Chr20:57466777 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.-30_-4del deletion GNAS-related disorder [RCV004736559] Chr20:58891694..58891720 [GRCh38]
Chr20:57466749..57466775 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1074A>G (p.Ala358=) single nucleotide variant not provided [RCV004766277] Chr20:58854339 [GRCh38]
Chr20:57429394 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.685G>A (p.Asp229Asn) single nucleotide variant GNAS-related disorder [RCV004735024] Chr20:58909546 [GRCh38]
Chr20:57484601 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.257+965A>G single nucleotide variant GNAS-related disorder [RCV004735064] Chr20:58899950 [GRCh38]
Chr20:57475005 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.13G>A (p.Gly5Arg) single nucleotide variant GNAS-related disorder [RCV004735073] Chr20:58891739 [GRCh38]
Chr20:57466794 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1044C>T (p.Ile348=) single nucleotide variant GNAS-related disorder [RCV004735262] Chr20:58910688 [GRCh38]
Chr20:57485743 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1447C>T (p.Arg483Trp) single nucleotide variant GNAS-related disorder [RCV004736452]|not provided [RCV004722728] Chr20:58854712 [GRCh38]
Chr20:57429767 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.285C>T (p.Ile95=) single nucleotide variant GNAS-related disorder [RCV004736061]|not provided [RCV005059889] Chr20:58903558 [GRCh38]
Chr20:57478613 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.313-15C>G single nucleotide variant GNAS-related disorder [RCV004736583] Chr20:58903657 [GRCh38]
Chr20:57478712 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.253G>A (p.Asp85Asn) single nucleotide variant GNAS-related disorder [RCV004736604] Chr20:58898981 [GRCh38]
Chr20:57474036 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.109G>A (p.Ala37Thr) single nucleotide variant GNAS-related disorder [RCV004724322] Chr20:58853374 [GRCh38]
Chr20:57428429 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1362_1363delinsTG (p.Ser455Ala) indel GNAS-related disorder [RCV004727887] Chr20:58854627..58854628 [GRCh38]
Chr20:57429682..57429683 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.-5G>A single nucleotide variant GNAS-related disorder [RCV004735018] Chr20:58853261 [GRCh38]
Chr20:57428316 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1945C>T (p.Arg649Cys) single nucleotide variant GNAS-related disorder [RCV004735081] Chr20:58855210 [GRCh38]
Chr20:57430265 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.322C>A (p.Gln108Lys) single nucleotide variant GNAS-related disorder [RCV004735091] Chr20:58853587 [GRCh38]
Chr20:57428642 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.264C>G (p.His88Gln) single nucleotide variant GNAS-related disorder [RCV004735125] Chr20:58840370 [GRCh38]
Chr20:57415425 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.338_385dup (p.Glu128_Pro129insArgGluThrGluSerGluIleGluSerGluThrAspPheGluThrGlu) duplication GNAS-related disorder [RCV004735287] Chr20:58840443..58840444 [GRCh38]
Chr20:57415498..57415499 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.778G>T (p.Ala260Ser) single nucleotide variant GNAS-related disorder [RCV004735312] Chr20:58854043 [GRCh38]
Chr20:57429098 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1737_1739del (p.Asp579del) deletion GNAS-related disorder [RCV004735334] Chr20:58855000..58855002 [GRCh38]
Chr20:57430055..57430057 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.796C>T (p.Leu266Phe) single nucleotide variant GNAS-related disorder [RCV004735427] Chr20:58854061 [GRCh38]
Chr20:57429116 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1445C>T (p.Thr482Ile) single nucleotide variant GNAS-related disorder [RCV004736002] Chr20:58854710 [GRCh38]
Chr20:57429765 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1163C>G (p.Ala388Gly) single nucleotide variant GNAS-related disorder [RCV004736009] Chr20:58854428 [GRCh38]
Chr20:57429483 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1156G>A (p.Ala386Thr) single nucleotide variant GNAS-related disorder [RCV004736473] Chr20:58854421 [GRCh38]
Chr20:57429476 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.377A>G (p.Glu126Gly) single nucleotide variant GNAS-related disorder [RCV004736581]|not provided [RCV005103688] Chr20:58840483 [GRCh38]
Chr20:57415538 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.107C>A (p.Ala36Glu) single nucleotide variant GNAS-related disorder [RCV004736639] Chr20:58853372 [GRCh38]
Chr20:57428427 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.288C>T (p.Ser96=) single nucleotide variant GNAS-related disorder [RCV004724566] Chr20:58840394 [GRCh38]
Chr20:57415449 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1825C>T (p.Arg609Cys) single nucleotide variant GNAS-related disorder [RCV004726535] Chr20:58855090 [GRCh38]
Chr20:57430145 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1620G>T (p.Pro540=) single nucleotide variant GNAS-related disorder [RCV004734999] Chr20:58854885 [GRCh38]
Chr20:57429940 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1784G>A (p.Arg595Gln) single nucleotide variant GNAS-related disorder [RCV004735042] Chr20:58855049 [GRCh38]
Chr20:57430104 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1677C>T (p.Arg559=) single nucleotide variant GNAS-related disorder [RCV004735118] Chr20:58854942 [GRCh38]
Chr20:57429997 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.647G>C (p.Arg216Pro) single nucleotide variant GNAS-related disorder [RCV004735174] Chr20:58840753 [GRCh38]
Chr20:57415808 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.957C>T (p.Asp319=) single nucleotide variant GNAS-related disorder [RCV004735236]|Inborn genetic diseases [RCV005353354] Chr20:58854222 [GRCh38]
Chr20:57429277 [GRCh37]
Chr20:20q13.32		 likely benign|uncertain significance
NM_016592.5(GNAS):c.240del (p.Glu81fs) deletion GNAS-related disorder [RCV004735243] Chr20:58840342 [GRCh38]
Chr20:57415397 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1648G>A (p.Ala550Thr) single nucleotide variant GNAS-related disorder [RCV004735263] Chr20:58854913 [GRCh38]
Chr20:57429968 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1337C>T (p.Ala446Val) single nucleotide variant GNAS-related disorder [RCV004735269] Chr20:58854602 [GRCh38]
Chr20:57429657 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1971C>G (p.Ala657=) single nucleotide variant GNAS-related disorder [RCV004735362] Chr20:58855236 [GRCh38]
Chr20:57430291 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.550C>G (p.Leu184Val) single nucleotide variant GNAS-related disorder [RCV004736010] Chr20:58853815 [GRCh38]
Chr20:57428870 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.3_5delinsAAT (p.Met1_Asp2delinsIleIle) indel GNAS-related disorder [RCV004736021] Chr20:58840109..58840111 [GRCh38]
Chr20:57415164..57415166 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.163C>T (p.His55Tyr) single nucleotide variant GNAS-related disorder [RCV004736037] Chr20:58853428 [GRCh38]
Chr20:57428483 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.970A>C (p.Asn324His) single nucleotide variant GNAS-related disorder [RCV004736048] Chr20:58854235 [GRCh38]
Chr20:57429290 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.*4A>T single nucleotide variant GNAS-related disorder [RCV004736054] Chr20:58840848 [GRCh38]
Chr20:57415903 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1879C>G (p.Gln627Glu) single nucleotide variant GNAS-related disorder [RCV004736469] Chr20:58855144 [GRCh38]
Chr20:57430199 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1664C>A (p.Ser555Tyr) single nucleotide variant GNAS-related disorder [RCV004736487] Chr20:58854929 [GRCh38]
Chr20:57429984 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1277C>G (p.Ala426Gly) single nucleotide variant GNAS-related disorder [RCV004736622] Chr20:58854542 [GRCh38]
Chr20:57429597 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1107T>A (p.Thr369=) single nucleotide variant not provided [RCV004811305] Chr20:58910751 [GRCh38]
Chr20:57485806 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2008G>T (p.Asp670Tyr) single nucleotide variant GNAS-related disorder [RCV004724587] Chr20:58855273 [GRCh38]
Chr20:57430328 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.479G>A (p.Arg160His) single nucleotide variant not provided [RCV004727558] Chr20:58905429 [GRCh38]
Chr20:57480484 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.1821A>T (p.Leu607Phe) single nucleotide variant GNAS-related disorder [RCV004726409] Chr20:58855086 [GRCh38]
Chr20:57430141 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2026G>A (p.Glu676Lys) single nucleotide variant GNAS-related disorder [RCV004726442] Chr20:58855291 [GRCh38]
Chr20:57430346 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.645C>G (p.Gly215=) single nucleotide variant GNAS-related disorder [RCV004730291] Chr20:58853910 [GRCh38]
Chr20:57428965 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.117del (p.Gly40fs) deletion GNAS-related disorder [RCV004734998] Chr20:58853378 [GRCh38]
Chr20:57428433 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1309G>T (p.Ala437Ser) single nucleotide variant GNAS-related disorder [RCV004735040] Chr20:58854574 [GRCh38]
Chr20:57429629 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1448G>T (p.Arg483Leu) single nucleotide variant GNAS-related disorder [RCV004735123] Chr20:58854713 [GRCh38]
Chr20:57429768 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.731G>A (p.Arg244Gln) single nucleotide variant GNAS-related disorder [RCV004735172] Chr20:58853996 [GRCh38]
Chr20:57429051 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1255G>A (p.Asp419Asn) single nucleotide variant GNAS-related disorder [RCV004735187] Chr20:58854520 [GRCh38]
Chr20:57429575 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.28A>G (p.Asn10Asp) single nucleotide variant GNAS-related disorder [RCV004735331] Chr20:58853293 [GRCh38]
Chr20:57428348 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1035G>C (p.Lys345Asn) single nucleotide variant GNAS-related disorder [RCV004735365] Chr20:58854300 [GRCh38]
Chr20:57429355 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.618G>A (p.Glu206=) single nucleotide variant GNAS-related disorder [RCV004735394] Chr20:58840724 [GRCh38]
Chr20:57415779 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1932G>A (p.Lys644=) single nucleotide variant GNAS-related disorder [RCV004735397] Chr20:58855197 [GRCh38]
Chr20:57430252 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.466G>A (p.Gly156Ser) single nucleotide variant GNAS-related disorder [RCV004735402] Chr20:58840572 [GRCh38]
Chr20:57415627 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.699T>A (p.Phe233Leu) single nucleotide variant GNAS-related disorder [RCV004735407] Chr20:58853964 [GRCh38]
Chr20:57429019 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2042T>C (p.Met681Thr) single nucleotide variant GNAS-related disorder [RCV004735424] Chr20:58855307 [GRCh38]
Chr20:57430362 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.28G>A (p.Glu10Lys) single nucleotide variant GNAS-related disorder [RCV004735090] Chr20:58891754 [GRCh38]
Chr20:57466809 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.438C>T (p.Phe146=) single nucleotide variant GNAS-related disorder [RCV004735279] Chr20:58905388 [GRCh38]
Chr20:57480443 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.27C>G (p.Thr9=) single nucleotide variant GNAS-related disorder [RCV004735291] Chr20:58891753 [GRCh38]
Chr20:57466808 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.5(GNAS):c.433delG deletion GNAS-related disorder [RCV004724531] Chr20:58905382 [GRCh38]
Chr20:57480437 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_080425.4(GNAS):c.78C>G (p.Pro26=) single nucleotide variant GNAS-related disorder [RCV004735965] Chr20:58853343 [GRCh38]
Chr20:57428398 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.536_543dup (p.Thr182fs) duplication GNAS-related disorder [RCV004735966] Chr20:58840639..58840640 [GRCh38]
Chr20:57415694..57415695 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2008G>A (p.Asp670Asn) single nucleotide variant GNAS-related disorder [RCV004735998] Chr20:58855273 [GRCh38]
Chr20:57430328 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.315A>G (p.Glu105=) single nucleotide variant GNAS-related disorder [RCV004736012] Chr20:58840421 [GRCh38]
Chr20:57415476 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.10C>T (p.Arg4Cys) single nucleotide variant GNAS-related disorder [RCV004736086] Chr20:58853275 [GRCh38]
Chr20:57428330 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.114C>T (p.Ser38=) single nucleotide variant GNAS-related disorder [RCV004736602] Chr20:58840220 [GRCh38]
Chr20:57415275 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.575A>G (p.Glu192Gly) single nucleotide variant GNAS-related disorder [RCV004736616] Chr20:58840681 [GRCh38]
Chr20:57415736 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1819T>C (p.Leu607=) single nucleotide variant GNAS-related disorder [RCV004736618] Chr20:58855084 [GRCh38]
Chr20:57430139 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.313-21_313-20insA insertion GNAS-related disorder [RCV004735997] Chr20:58903651..58903652 [GRCh38]
Chr20:57478706..57478707 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.-7C>A single nucleotide variant GNAS-related disorder [RCV004736122] Chr20:58891720 [GRCh38]
Chr20:57466775 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.128C>A (p.Pro43His) single nucleotide variant GNAS-related disorder [RCV004735041] Chr20:58853393 [GRCh38]
Chr20:57428448 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1861G>C (p.Gly621Arg) single nucleotide variant GNAS-related disorder [RCV004735103] Chr20:58855126 [GRCh38]
Chr20:57430181 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.318_319inv (p.Glu107Lys) inversion GNAS-related disorder [RCV004735132] Chr20:58853583..58853584 [GRCh38]
Chr20:57428638..57428639 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1408G>A (p.Ala470Thr) single nucleotide variant GNAS-related disorder [RCV004735149] Chr20:58854673 [GRCh38]
Chr20:57429728 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1860C>G (p.Phe620Leu) single nucleotide variant GNAS-related disorder [RCV004735157] Chr20:58855125 [GRCh38]
Chr20:57430180 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1818C>T (p.Asn606=) single nucleotide variant GNAS-related disorder [RCV004735201] Chr20:58855083 [GRCh38]
Chr20:57430138 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2068+6G>A single nucleotide variant GNAS-related disorder [RCV004735241] Chr20:58855339 [GRCh38]
Chr20:57430394 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+5G>A single nucleotide variant GNAS-related disorder [RCV004728381] Chr20:58891870 [GRCh38]
Chr20:57466925 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1211C>G (p.Ser404Cys) single nucleotide variant not provided [RCV004760068] Chr20:58854476 [GRCh38]
Chr20:57429531 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.455del (p.Gly152fs) deletion not provided [RCV004762627] Chr20:58853718 [GRCh38]
Chr20:57428773 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.113G>C (p.Arg38Pro) single nucleotide variant not provided [RCV004724204] Chr20:58891839 [GRCh38]
Chr20:57466894 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.344G>A (p.Trp115Ter) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004759349] Chr20:58853609 [GRCh38]
Chr20:57428664 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.971-7T>C single nucleotide variant GNAS-related disorder [RCV004724419] Chr20:58910327 [GRCh38]
Chr20:57485382 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1062T>C (p.Asp354=) single nucleotide variant GNAS-related disorder [RCV004735094] Chr20:58910706 [GRCh38]
Chr20:57485761 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.12C>G (p.Leu4=) single nucleotide variant GNAS-related disorder [RCV004735211] Chr20:58891738 [GRCh38]
Chr20:57466793 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.825C>T (p.Ser275=) single nucleotide variant GNAS-related disorder [RCV004735248] Chr20:58909790 [GRCh38]
Chr20:57484845 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.105G>A (p.Gln35=) single nucleotide variant GNAS-related disorder [RCV004735301] Chr20:58891831 [GRCh38]
Chr20:57466886 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.978C>T (p.Pro326=) single nucleotide variant GNAS-related disorder [RCV004736111] Chr20:58910341 [GRCh38]
Chr20:57485396 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.854T>C (p.Ile285Thr) single nucleotide variant not provided [RCV004769857] Chr20:58909965 [GRCh38]
Chr20:57485020 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.432+5G>A single nucleotide variant Pseudohypoparathyroidism type I A [RCV004771379] Chr20:58903796 [GRCh38]
Chr20:57478851 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_016592.5(GNAS):c.322G>C (p.Asp108His) single nucleotide variant GNAS-related disorder [RCV004724260] Chr20:58840428 [GRCh38]
Chr20:57415483 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.327C>T (p.Tyr109=) single nucleotide variant GNAS-related disorder [RCV004724461] Chr20:58840433 [GRCh38]
Chr20:57415488 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.699C>G (p.Ser233=) single nucleotide variant GNAS-related disorder [RCV004726491] Chr20:58840805 [GRCh38]
Chr20:57415860 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1336_1337insTCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGG (p.Ala445_Ala446insValProAspAlaProAlaAspProAspSerGlyAla) insertion GNAS-related disorder [RCV004728429] Chr20:58854572..58854573 [GRCh38]
Chr20:57429627..57429628 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1052_1053del (p.Arg351fs) microsatellite GNAS-related disorder [RCV004730183] Chr20:58854312..58854313 [GRCh38]
Chr20:57429367..57429368 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1797C>A (p.Arg599=) single nucleotide variant GNAS-related disorder [RCV004735031] Chr20:58855062 [GRCh38]
Chr20:57430117 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1148C>A (p.Ala383Asp) single nucleotide variant GNAS-related disorder [RCV004735038] Chr20:58854413 [GRCh38]
Chr20:57429468 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1142C>T (p.Pro381Leu) single nucleotide variant GNAS-related disorder [RCV004735044] Chr20:58854407 [GRCh38]
Chr20:57429462 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.669G>A (p.Lys223=) single nucleotide variant GNAS-related disorder [RCV004735053] Chr20:58840775 [GRCh38]
Chr20:57415830 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.132C>A (p.Ala44=) single nucleotide variant GNAS-related disorder [RCV004735056] Chr20:58840238 [GRCh38]
Chr20:57415293 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.308A>G (p.Tyr103Cys) single nucleotide variant GNAS-related disorder [RCV004735085] Chr20:58840414 [GRCh38]
Chr20:57415469 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.73G>A (p.Gly25Ser) single nucleotide variant GNAS-related disorder [RCV004735117] Chr20:58840179 [GRCh38]
Chr20:57415234 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1944G>A (p.Met648Ile) single nucleotide variant GNAS-related disorder [RCV004735175] Chr20:58855209 [GRCh38]
Chr20:57430264 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1405G>A (p.Ala469Thr) single nucleotide variant GNAS-related disorder [RCV004735199] Chr20:58854670 [GRCh38]
Chr20:57429725 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.463T>G (p.Phe155Val) single nucleotide variant GNAS-related disorder [RCV004735202] Chr20:58840569 [GRCh38]
Chr20:57415624 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1539G>A (p.Ala513=) single nucleotide variant GNAS-related disorder [RCV004735216] Chr20:58854804 [GRCh38]
Chr20:57429859 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1720G>T (p.Asp574Tyr) single nucleotide variant GNAS-related disorder [RCV004735332] Chr20:58854985 [GRCh38]
Chr20:57430040 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.337_348del (p.111TESE[1]) deletion GNAS-related disorder [RCV004736075] Chr20:58840433..58840444 [GRCh38]
Chr20:57415488..57415499 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-3905CCG[10] microsatellite GNAS-related disorder [RCV004736080] Chr20:58891706..58891707 [GRCh38]
Chr20:57466761..57466762 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2002C>T (p.Leu668Phe) single nucleotide variant GNAS-related disorder [RCV004736093] Chr20:58855267 [GRCh38]
Chr20:57430322 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1628_1639del (p.Pro543_Thr546del) deletion GNAS-related disorder [RCV004736456] Chr20:58854885..58854896 [GRCh38]
Chr20:57429940..57429951 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.245C>G (p.Ser82Trp) single nucleotide variant GNAS-related disorder [RCV004736507] Chr20:58840351 [GRCh38]
Chr20:57415406 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.326C>T (p.Pro109Leu) single nucleotide variant GNAS-related disorder [RCV004736571] Chr20:58853591 [GRCh38]
Chr20:57428646 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.175C>G (p.Gln59Glu) single nucleotide variant not provided [RCV004760827] Chr20:58895647 [GRCh38]
Chr20:57470702 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.788C>T (p.Ala263Val) single nucleotide variant McCune-Albright syndrome [RCV004788230] Chr20:58854053 [GRCh38]
Chr20:57429108 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1328C>T (p.Ser443Phe) single nucleotide variant McCune-Albright syndrome [RCV004790029] Chr20:58854593 [GRCh38]
Chr20:57429648 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.885C>G (p.Phe295Leu) single nucleotide variant Pseudohypoparathyroidism type I A [RCV004795597] Chr20:58854150 [GRCh38]
Chr20:57429205 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_016592.5(GNAS):c.610C>G (p.Pro204Ala) single nucleotide variant GNAS-related disorder [RCV004724700] Chr20:58840716 [GRCh38]
Chr20:57415771 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1509T>C (p.Ser503=) single nucleotide variant GNAS-related disorder [RCV004728056] Chr20:58854774 [GRCh38]
Chr20:57429829 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.485G>A (p.Arg162His) single nucleotide variant GNAS-related disorder [RCV004728515] Chr20:58840591 [GRCh38]
Chr20:57415646 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1304C>T (p.Pro435Leu) single nucleotide variant GNAS-related disorder [RCV004729660] Chr20:58854569 [GRCh38]
Chr20:57429624 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.923del (p.Pro308fs) deletion GNAS-related disorder [RCV004734989] Chr20:58854184 [GRCh38]
Chr20:57429239 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1380C>T (p.Asp460=) single nucleotide variant GNAS-related disorder [RCV004734996] Chr20:58854645 [GRCh38]
Chr20:57429700 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1047A>G (p.Ala349=) single nucleotide variant GNAS-related disorder [RCV004735063] Chr20:58854312 [GRCh38]
Chr20:57429367 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.633G>A (p.Lys211=) single nucleotide variant GNAS-related disorder [RCV004735145] Chr20:58840739 [GRCh38]
Chr20:57415794 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1055C>G (p.Pro352Arg) single nucleotide variant GNAS-related disorder [RCV004735154] Chr20:58854320 [GRCh38]
Chr20:57429375 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1294G>A (p.Gly432Arg) single nucleotide variant GNAS-related disorder [RCV004735246] Chr20:58854559 [GRCh38]
Chr20:57429614 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.41G>A (p.Arg14His) single nucleotide variant GNAS-related disorder [RCV004735308] Chr20:58840147 [GRCh38]
Chr20:57415202 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1289A>G (p.Asp430Gly) single nucleotide variant GNAS-related disorder [RCV004735970] Chr20:58854554 [GRCh38]
Chr20:57429609 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.32A>G (p.Asn11Ser) single nucleotide variant GNAS-related disorder [RCV004736001] Chr20:58853297 [GRCh38]
Chr20:57428352 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1876C>A (p.Pro626Thr) single nucleotide variant GNAS-related disorder [RCV004736038] Chr20:58855141 [GRCh38]
Chr20:57430196 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1167T>A (p.Asp389Glu) single nucleotide variant GNAS-related disorder [RCV004736064] Chr20:58854432 [GRCh38]
Chr20:57429487 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.178C>A (p.Pro60Thr) single nucleotide variant GNAS-related disorder [RCV004736099] Chr20:58853443 [GRCh38]
Chr20:57428498 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1893G>A (p.Ser631=) single nucleotide variant GNAS-related disorder [RCV004736134] Chr20:58855158 [GRCh38]
Chr20:57430213 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.624A>G (p.Ala208=) single nucleotide variant GNAS-related disorder [RCV004736563] Chr20:58853889 [GRCh38]
Chr20:57428944 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1184AAG[1] (p.Ter395=) microsatellite GNAS-related disorder [RCV004735215] Chr20:58910828..58910830 [GRCh38]
Chr20:57485883..57485885 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1031A>G (p.Asp344Gly) single nucleotide variant GNAS-related disorder [RCV004728177] Chr20:58854296 [GRCh38]
Chr20:57429351 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.768G>T (p.Ala256=) single nucleotide variant GNAS-related disorder [RCV004728489] Chr20:58854033 [GRCh38]
Chr20:57429088 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1300G>T (p.Ala434Ser) single nucleotide variant GNAS-related disorder [RCV004730329] Chr20:58854565 [GRCh38]
Chr20:57429620 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.445C>A (p.Pro149Thr) single nucleotide variant GNAS-related disorder [RCV004735003] Chr20:58853710 [GRCh38]
Chr20:57428765 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.990C>T (p.Ile330=) single nucleotide variant GNAS-related disorder [RCV004735019] Chr20:58854255 [GRCh38]
Chr20:57429310 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.115C>T (p.Pro39Ser) single nucleotide variant GNAS-related disorder [RCV004735039] Chr20:58853380 [GRCh38]
Chr20:57428435 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.693G>C (p.Pro231=) single nucleotide variant GNAS-related disorder [RCV004735043] Chr20:58840799 [GRCh38]
Chr20:57415854 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.41G>T (p.Arg14Leu) single nucleotide variant GNAS-related disorder [RCV004735057] Chr20:58840147 [GRCh38]
Chr20:57415202 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1149C>T (p.Ala383=) single nucleotide variant GNAS-related disorder [RCV004735075] Chr20:58854414 [GRCh38]
Chr20:57429469 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.943C>T (p.Pro315Ser) single nucleotide variant GNAS-related disorder [RCV004735093] Chr20:58854208 [GRCh38]
Chr20:57429263 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.813C>T (p.Asn271=) single nucleotide variant GNAS-related disorder [RCV004735100] Chr20:58854078 [GRCh38]
Chr20:57429133 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.320T>G (p.Phe107Cys) single nucleotide variant GNAS-related disorder [RCV004735165] Chr20:58840426 [GRCh38]
Chr20:57415481 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.183C>T (p.Val61=) single nucleotide variant GNAS-related disorder [RCV004735167] Chr20:58853448 [GRCh38]
Chr20:57428503 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1796G>A (p.Arg599His) single nucleotide variant GNAS-related disorder [RCV004735229] Chr20:58855061 [GRCh38]
Chr20:57430116 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1473G>T (p.Ala491=) single nucleotide variant GNAS-related disorder [RCV004735963] Chr20:58854738 [GRCh38]
Chr20:57429793 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1042C>A (p.Arg348=) single nucleotide variant GNAS-related disorder [RCV004735996] Chr20:58854307 [GRCh38]
Chr20:57429362 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.426A>G (p.Gly142=) single nucleotide variant GNAS-related disorder [RCV004736148] Chr20:58853691 [GRCh38]
Chr20:57428746 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1511C>T (p.Ala504Val) single nucleotide variant GNAS-related disorder [RCV004736151] Chr20:58854776 [GRCh38]
Chr20:57429831 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.595A>G (p.Lys199Glu) single nucleotide variant GNAS-related disorder [RCV004736470] Chr20:58840701 [GRCh38]
Chr20:57415756 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.638A>G (p.Glu213Gly) single nucleotide variant GNAS-related disorder [RCV004736479] Chr20:58840744 [GRCh38]
Chr20:57415799 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2050C>A (p.His684Asn) single nucleotide variant GNAS-related disorder [RCV004736484] Chr20:58855315 [GRCh38]
Chr20:57430370 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.286C>T (p.Pro96Ser) single nucleotide variant GNAS-related disorder [RCV004736537] Chr20:58853551 [GRCh38]
Chr20:57428606 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.879T>C (p.Ser293=) single nucleotide variant GNAS-related disorder [RCV004736586] Chr20:58854144 [GRCh38]
Chr20:57429199 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1598C>G (p.Pro533Arg) single nucleotide variant GNAS-related disorder [RCV004736607] Chr20:58854863 [GRCh38]
Chr20:57429918 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1307_1376delinsACGCCCCAGCCGATCCCGACTCCGGGGCGGTCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG (p.Ala436_Pro459delinsAspAlaProAlaAspProAspSerGlyAlaValProAspAlaProAlaAspProAspSerGlyAlaAlaProAspAlaProAlaAspProAspSerGlyAlaAlaArg) indel GNAS-related disorder [RCV004736614] Chr20:58854572..58854641 [GRCh38]
Chr20:57429627..57429696 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1117C>T (p.Arg373Cys) single nucleotide variant not provided [RCV004762814] Chr20:58910761 [GRCh38]
Chr20:57485816 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.507C>G (p.Tyr169Ter) single nucleotide variant not provided [RCV004702085] Chr20:58905457 [GRCh38]
Chr20:57480512 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_016592.5(GNAS):c.536C>G (p.Pro179Arg) single nucleotide variant not provided [RCV004761610] Chr20:58840642 [GRCh38]
Chr20:57415697 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.945del (p.Ala316fs) deletion not provided [RCV004764185] Chr20:58854206 [GRCh38]
Chr20:57429261 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1072G>A (p.Ala358Thr) single nucleotide variant not provided [RCV004776245] Chr20:58854337 [GRCh38]
Chr20:57429392 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.453G>A (p.Lys151=) single nucleotide variant GNAS-related disorder [RCV004734995] Chr20:58905403 [GRCh38]
Chr20:57480458 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.-9G>C single nucleotide variant GNAS-related disorder [RCV004735028] Chr20:58891718 [GRCh38]
Chr20:57466773 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1104C>T (p.Asp368=) single nucleotide variant GNAS-related disorder [RCV004735440] Chr20:58910748 [GRCh38]
Chr20:57485803 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1155C>T (p.Arg385=) single nucleotide variant GNAS-related disorder [RCV004735462] Chr20:58910799 [GRCh38]
Chr20:57485854 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.840-5T>C single nucleotide variant GNAS-related disorder [RCV004736036]|not provided [RCV005103872] Chr20:58909946 [GRCh38]
Chr20:57485001 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.53C>T (p.Ala18Val) single nucleotide variant GNAS-related disorder [RCV004735964] Chr20:58891779 [GRCh38]
Chr20:57466834 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.763A>T (p.Met255Leu) single nucleotide variant GNAS-related disorder [RCV004736464] Chr20:58909728 [GRCh38]
Chr20:57484783 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.658C>T (p.His220Tyr) single nucleotide variant GNAS-related disorder [RCV004736565] Chr20:58909422 [GRCh38]
Chr20:57484477 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.722T>C (p.Val241Ala) single nucleotide variant GNAS-related disorder [RCV004736603] Chr20:58909687 [GRCh38]
Chr20:57484742 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.380dup (p.Val128fs) duplication GNAS-related disorder [RCV004726660] Chr20:58903738..58903739 [GRCh38]
Chr20:57478793..57478794 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_016592.5(GNAS):c.415A>T (p.Thr139Ser) single nucleotide variant GNAS-related disorder [RCV004724263] Chr20:58840521 [GRCh38]
Chr20:57415576 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.785G>T (p.Ser262Ile) single nucleotide variant GNAS-related disorder [RCV004724378] Chr20:58854050 [GRCh38]
Chr20:57429105 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1768C>A (p.Arg590Ser) single nucleotide variant GNAS-related disorder [RCV004724437] Chr20:58855033 [GRCh38]
Chr20:57430088 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1000G>A (p.Val334Met) single nucleotide variant GNAS-related disorder [RCV004730132] Chr20:58910363 [GRCh38]
Chr20:57485418 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1359C>A (p.Pro453=) single nucleotide variant GNAS-related disorder [RCV004726382] Chr20:58854624 [GRCh38]
Chr20:57429679 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1691A>G (p.Tyr564Cys) single nucleotide variant GNAS-related disorder [RCV004726489] Chr20:58854956 [GRCh38]
Chr20:57430011 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.932T>C (p.Ile311Thr) single nucleotide variant Pseudopseudohypoparathyroidism [RCV005052238] Chr20:58854197 [GRCh38]
Chr20:57429252 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.238G>A (p.Ala80Thr) single nucleotide variant Pseudohypoparathyroidism type 1B [RCV004821153] Chr20:58898966 [GRCh38]
Chr20:57474021 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.910A>G (p.Ile304Val) single nucleotide variant McCune-Albright syndrome [RCV005029150] Chr20:58854175 [GRCh38]
Chr20:57429230 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.249C>G (p.Asn83Lys) single nucleotide variant McCune-Albright syndrome [RCV005029152] Chr20:58898977 [GRCh38]
Chr20:57474032 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.411G>A (p.Val137=) single nucleotide variant McCune-Albright syndrome [RCV005029153] Chr20:58903770 [GRCh38]
Chr20:57478825 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1135T>C (p.Cys379Arg) single nucleotide variant McCune-Albright syndrome [RCV005029157] Chr20:58910779 [GRCh38]
Chr20:57485834 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.106G>A (p.Val36Ile) single nucleotide variant Inborn genetic diseases [RCV004982650] Chr20:58891832 [GRCh38]
Chr20:57466887 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1381G>T (p.Ala461Ser) single nucleotide variant not provided [RCV004823410] Chr20:58854646 [GRCh38]
Chr20:57429701 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.112C>T (p.Arg38Trp) single nucleotide variant McCune-Albright syndrome [RCV005029151]|not provided [RCV005054499] Chr20:58891838 [GRCh38]
Chr20:57466893 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1058G>A (p.Gly353Glu) single nucleotide variant McCune-Albright syndrome [RCV005029156] Chr20:58910702 [GRCh38]
Chr20:57485757 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.870C>T (p.Phe290=) single nucleotide variant McCune-Albright syndrome [RCV005029154] Chr20:58909981 [GRCh38]
Chr20:57485036 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.970+1G>C single nucleotide variant McCune-Albright syndrome [RCV005029155] Chr20:58910082 [GRCh38]
Chr20:57485137 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.979G>A (p.Glu327Lys) single nucleotide variant not provided [RCV005196159] Chr20:58910342 [GRCh38]
Chr20:57485397 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.531-15T>G single nucleotide variant not provided [RCV005066132] Chr20:58909147 [GRCh38]
Chr20:57484202 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.179C>T (p.Pro60Leu) single nucleotide variant not provided [RCV005227453] Chr20:58853444 [GRCh38]
Chr20:57428499 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.345C>T (p.Pro115=) single nucleotide variant not provided [RCV005066473] Chr20:58903704 [GRCh38]
Chr20:57478759 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.100A>T (p.Lys34Ter) single nucleotide variant not provided [RCV005196138] Chr20:58891826 [GRCh38]
Chr20:57466881 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.501C>T (p.Asn167=) single nucleotide variant not provided [RCV005062242] Chr20:58905451 [GRCh38]
Chr20:57480506 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.660-11C>T single nucleotide variant not provided [RCV005066834] Chr20:58909510 [GRCh38]
Chr20:57484565 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.839+16G>A single nucleotide variant not provided [RCV005147294] Chr20:58909820 [GRCh38]
Chr20:57484875 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.1166G>A (p.Arg389His) single nucleotide variant not provided [RCV005063954] Chr20:58910810 [GRCh38]
Chr20:57485865 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.97del (p.Asp33fs) deletion not provided [RCV005195675] Chr20:58891822 [GRCh38]
Chr20:57466877 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.258-6C>T single nucleotide variant not provided [RCV005180565] Chr20:58903525 [GRCh38]
Chr20:57478580 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1706_1708del (p.Val569del) deletion not provided [RCV005243045] Chr20:58854969..58854971 [GRCh38]
Chr20:57430024..57430026 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.718+19G>C single nucleotide variant not provided [RCV005201966] Chr20:58909598 [GRCh38]
Chr20:57484653 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.269del (p.Glu90fs) deletion not provided [RCV005250756] Chr20:58840375 [GRCh38]
Chr20:57415430 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.865del (p.Leu289fs) deletion not provided [RCV005123854] Chr20:58909975 [GRCh38]
Chr20:57485030 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.719-15C>T single nucleotide variant not provided [RCV005158236] Chr20:58909669 [GRCh38]
Chr20:57484724 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.213-14TC[2] microsatellite not provided [RCV005119958] Chr20:58898927..58898928 [GRCh38]
Chr20:57473982..57473983 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1098T>C (p.Ala366=) single nucleotide variant not provided [RCV005160451] Chr20:58910742 [GRCh38]
Chr20:57485797 [GRCh37]
Chr20:20q13.32		 likely benign
NM_016592.5(GNAS):c.240C>G (p.Pro80=) single nucleotide variant not specified [RCV005238637] Chr20:58840346 [GRCh38]
Chr20:57415401 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.930C>T (p.Asp310=) single nucleotide variant not provided [RCV005198469] Chr20:58910041 [GRCh38]
Chr20:57485096 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.1394_1395insCGGGCCGCCCCGGAGTCGGGATCGGCTGGGGCGTCA (p.Pro465_Asp466insGlyProProArgSerArgAspArgLeuGlyArgGln) insertion not specified [RCV005231727] Chr20:58854659..58854660 [GRCh38]
Chr20:57429714..57429715 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.1039-15T>C single nucleotide variant not provided [RCV005203081] Chr20:58910668 [GRCh38]
Chr20:57485723 [GRCh37]
Chr20:20q13.32		 likely benign
NM_080425.4(GNAS):c.2069-5357_2069-5346del deletion not provided [RCV005244048] Chr20:58890253..58890264 [GRCh38]
Chr20:57465308..57465319 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.433-3C>G single nucleotide variant not provided [RCV005126985] Chr20:58905380 [GRCh38]
Chr20:57480435 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.988G>A (p.Glu330Lys) single nucleotide variant not provided [RCV005143156] Chr20:58910351 [GRCh38]
Chr20:57485406 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.312+11G>T single nucleotide variant not provided [RCV005167954] Chr20:58903596 [GRCh38]
Chr20:57478651 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.568del (p.Tyr190fs) deletion PHP Type 1a / PPHP [RCV005250994] Chr20:58909199 [GRCh38]
Chr20:57484254 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.694C>T (p.Arg232Cys) single nucleotide variant not provided [RCV005168182] Chr20:58909555 [GRCh38]
Chr20:57484610 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2069-4898G>T single nucleotide variant not provided [RCV005244068] Chr20:58890714 [GRCh38]
Chr20:57465769 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.878A>C (p.Lys293Thr) single nucleotide variant not provided [RCV005123232] Chr20:58909989 [GRCh38]
Chr20:57485044 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.75del (p.Ile26fs) deletion not provided [RCV005138770] Chr20:58891801 [GRCh38]
Chr20:57466856 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.530+14A>G single nucleotide variant not provided [RCV005077699] Chr20:58905494 [GRCh38]
Chr20:57480549 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.30G>C (p.Glu10Asp) single nucleotide variant not provided [RCV005121276] Chr20:58891756 [GRCh38]
Chr20:57466811 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.433-2A>C single nucleotide variant McCune-Albright syndrome [RCV005233144] Chr20:58905381 [GRCh38]
Chr20:57480436 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.718+6A>G single nucleotide variant not provided [RCV005137102] Chr20:58909585 [GRCh38]
Chr20:57484640 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.393_394delinsTG (p.Leu132Val) indel not provided [RCV005128892] Chr20:58903752..58903753 [GRCh38]
Chr20:57478807..57478808 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.682C>A (p.Arg228Ser) single nucleotide variant not provided [RCV005154588] Chr20:58909543 [GRCh38]
Chr20:57484598 [GRCh37]
Chr20:20q13.32		 likely pathogenic
NM_000516.7(GNAS):c.799C>T (p.Gln267Ter) single nucleotide variant not provided [RCV005154589] Chr20:58909764 [GRCh38]
Chr20:57484819 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.1020C>T (p.Phe340=) single nucleotide variant not provided [RCV005164496] Chr20:58910383 [GRCh38]
Chr20:57485438 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.313-14T>G single nucleotide variant not provided [RCV005134307] Chr20:58903658 [GRCh38]
Chr20:57478713 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.660-9C>T single nucleotide variant not provided [RCV005138994] Chr20:58909512 [GRCh38]
Chr20:57484567 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.647A>G (p.Lys216Arg) single nucleotide variant not provided [RCV005158718] Chr20:58909411 [GRCh38]
Chr20:57484466 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.746C>T (p.Ala249Val) single nucleotide variant not provided [RCV005187573] Chr20:58909711 [GRCh38]
Chr20:57484766 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.840A>G (p.Arg280=) single nucleotide variant not provided [RCV005077469] Chr20:58909951 [GRCh38]
Chr20:57485006 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.201G>C (p.Gly67=) single nucleotide variant not provided [RCV005161349] Chr20:58895673 [GRCh38]
Chr20:57470728 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+18G>T single nucleotide variant not provided [RCV005134905] Chr20:58891883 [GRCh38]
Chr20:57466938 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.313-4T>C single nucleotide variant not provided [RCV005137282] Chr20:58903668 [GRCh38]
Chr20:57478723 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.139+23_139+53dup duplication not provided [RCV005124934] Chr20:58891880..58891881 [GRCh38]
Chr20:57466935..57466936 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.433-14G>A single nucleotide variant not provided [RCV005150431] Chr20:58905369 [GRCh38]
Chr20:57480424 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.570T>G (p.Tyr190Ter) single nucleotide variant not provided [RCV005127336] Chr20:58909201 [GRCh38]
Chr20:57484256 [GRCh37]
Chr20:20q13.32		 pathogenic
NM_000516.7(GNAS):c.313-5T>C single nucleotide variant not provided [RCV005156512] Chr20:58903667 [GRCh38]
Chr20:57478722 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.586-16C>T single nucleotide variant not provided [RCV005069753] Chr20:58909334 [GRCh38]
Chr20:57484389 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.660-15C>T single nucleotide variant not provided [RCV005110715] Chr20:58909506 [GRCh38]
Chr20:57484561 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.36G>C (p.Gln12His) single nucleotide variant not provided [RCV005197152] Chr20:58891762 [GRCh38]
Chr20:57466817 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.432+11C>A single nucleotide variant not provided [RCV005073150] Chr20:58903802 [GRCh38]
Chr20:57478857 [GRCh37]
Chr20:20q13.32		 benign
NM_000516.7(GNAS):c.3G>C (p.Met1Ile) single nucleotide variant Pseudopseudohypoparathyroidism [RCV005253263] Chr20:58891729 [GRCh38]
Chr20:57466784 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.334G>C (p.Gly112Arg) single nucleotide variant McCune-Albright syndrome [RCV005400635] Chr20:58853599 [GRCh38]
Chr20:57428654 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.617G>A (p.Gly206Glu) single nucleotide variant not provided [RCV005256387] Chr20:58909381 [GRCh38]
Chr20:57484436 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1851G>A (p.Gly617=) single nucleotide variant McCune-Albright syndrome [RCV005400634] Chr20:58855116 [GRCh38]
Chr20:57430171 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1848C>T (p.Phe616=) single nucleotide variant McCune-Albright syndrome [RCV005400633] Chr20:58855113 [GRCh38]
Chr20:57430168 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.568G>C (p.Gly190Arg) single nucleotide variant McCune-Albright syndrome [RCV005400636] Chr20:58853833 [GRCh38]
Chr20:57428888 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1952A>G (p.Glu651Gly) single nucleotide variant not provided [RCV005415888] Chr20:58855217 [GRCh38]
Chr20:57430272 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.2048C>T (p.Thr683Met) single nucleotide variant not provided [RCV005416943] Chr20:58855313 [GRCh38]
Chr20:57430368 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.561C>T (p.Ser187=) single nucleotide variant not provided [RCV005425401] Chr20:58840667 [GRCh38]
Chr20:57415722 [GRCh37]
Chr20:20q13.32		 likely benign
NM_000516.7(GNAS):c.258-1G>A single nucleotide variant not provided [RCV005410647] Chr20:58903530 [GRCh38]
Chr20:57478585 [GRCh37]
Chr20:20q13.32		 pathogenic
NC_000020.10:g.55906911_58646228del deletion Pseudohypoparathyroidism type 1C [RCV005416264] Chr20:55906911..58646228 [GRCh37]
Chr20:20q13.31-13.33		 pathogenic
NM_080425.4(GNAS):c.2069-5423G>C single nucleotide variant not provided [RCV005413791] Chr20:58890189 [GRCh38]
Chr20:57465244 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.256A>G (p.Arg86Gly) single nucleotide variant not provided [RCV005413690] Chr20:58853521 [GRCh38]
Chr20:57428576 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_016592.5(GNAS):c.263A>G (p.His88Arg) single nucleotide variant not provided [RCV005415852] Chr20:58840369 [GRCh38]
Chr20:57415424 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_080425.4(GNAS):c.1546G>A (p.Ala516Thr) single nucleotide variant not provided [RCV005411838] Chr20:58854811 [GRCh38]
Chr20:57429866 [GRCh37]
Chr20:20q13.32		 uncertain significance
NM_000516.7(GNAS):c.1126T>G (p.Phe376Val) single nucleotide variant not provided [RCV005414189] Chr20:58910770 [GRCh38]
Chr20:57485825 [GRCh37]
Chr20:20q13.32		 likely pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:11959
Count of miRNA genes:1300
Interacting mature miRNAs:1688
Transcripts:ENST00000265620, ENST00000306090, ENST00000306120, ENST00000313949, ENST00000338783, ENST00000349036, ENST00000354359, ENST00000371075, ENST00000371081, ENST00000371085, ENST00000371095, ENST00000371098, ENST00000371099, ENST00000371100, ENST00000371102, ENST00000419558, ENST00000423897, ENST00000450130, ENST00000453292, ENST00000461152, ENST00000462499, ENST00000464624, ENST00000464788, ENST00000464960, ENST00000467227, ENST00000467321, ENST00000468895, ENST00000469431, ENST00000470512, ENST00000472183, ENST00000475610, ENST00000476196, ENST00000476935, ENST00000477931, ENST00000478585, ENST00000479025, ENST00000480232, ENST00000480975, ENST00000481039, ENST00000481768, ENST00000482112, ENST00000483387, ENST00000484504, ENST00000485673, ENST00000487862, ENST00000487981, ENST00000488546, ENST00000488652, ENST00000490374, ENST00000491348, ENST00000492907, ENST00000493744, ENST00000493958, ENST00000494081, ENST00000496934, ENST00000603546, ENST00000604005
Prediction methods:Microtar, 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
597160469GWAS1256543_Huric acid measurement QTL GWAS1256543 (human)7e-12blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)205888841758888418Human
596953104GWAS1072623_Hsize QTL GWAS1072623 (human)1e-09size205889103858891039Human
596976273GWAS1095792_Hglomerular filtration rate QTL GWAS1095792 (human)2e-08glomerular filtration rate205890204958902050Human
596976272GWAS1095791_Hglomerular filtration rate QTL GWAS1095791 (human)2e-08glomerular filtration rate205890203558902036Human
596976275GWAS1095794_Hglomerular filtration rate QTL GWAS1095794 (human)3e-08glomerular filtration rate205890275758902758Human
596976274GWAS1095793_Hglomerular filtration rate QTL GWAS1095793 (human)2e-08glomerular filtration rate205890215658902157Human
597093918GWAS1189992_HFEV/FVC ratio, response to bronchodilator QTL GWAS1189992 (human)0.000002lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)205888228758882288Human
597487892GWAS1583966_HVaricose veins QTL GWAS1583966 (human)4e-11Varicose veins205888481358884814Human
407027658GWAS676634_Hevent-related brain oscillation QTL GWAS676634 (human)0.000006brain electrophysiology trait (VT:0010557)brain spike-and-wave discharge measurement (CMO:0001738)205890013658900137Human
407369422GWAS1018398_Hplatelet component distribution width QTL GWAS1018398 (human)5e-54platelet size trait (VT:0010457)platelet distribution width (CMO:0001350)205884981358849814Human
597207187GWAS1303261_Hurate measurement QTL GWAS1303261 (human)8e-10urate measurementblood uric acid level (CMO:0000501)205888841758888418Human
597157401GWAS1253475_Htriglyceride:HDL cholesterol ratio QTL GWAS1253475 (human)3e-08blood triglyceride amount (VT:0002644)205889103858891039Human
597110168GWAS1206242_Hurate measurement QTL GWAS1206242 (human)6e-14urate measurementblood uric acid level (CMO:0000501)205889711958897120Human
597268363GWAS1364437_Hdiastolic blood pressure QTL GWAS1364437 (human)7e-15arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)205889088858890889Human
597229452GWAS1325526_Happendicular lean mass QTL GWAS1325526 (human)3e-14body lean mass (VT:0010483)205888841758888418Human
597071234GWAS1167308_Hdiastolic blood pressure QTL GWAS1167308 (human)6e-09arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)205889711958897120Human
597349007GWAS1445081_Hurate measurement QTL GWAS1445081 (human)3e-22urate measurementblood uric acid level (CMO:0000501)205889711958897120Human
596976271GWAS1095790_Hglomerular filtration rate QTL GWAS1095790 (human)5e-08glomerular filtration rate205890175458901755Human
596976270GWAS1095789_Hglomerular filtration rate QTL GWAS1095789 (human)4e-08glomerular filtration rate205889401858894019Human
597140876GWAS1236950_Huric acid measurement QTL GWAS1236950 (human)1e-09blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)205890175458901755Human
597338241GWAS1434315_Hgastric ulcer QTL GWAS1434315 (human)2e-09stomach integrity trait (VT:0010603)205890183558901836Human
597345082GWAS1441156_Hurate measurement QTL GWAS1441156 (human)3e-10urate measurementblood uric acid level (CMO:0000501)205889711958897120Human
2292864PRSTS43_HProstate tumor susceptibility QTL 43 (human)0.620.05Prostate tumor susceptibility204730303964444167Human
596975671GWAS1095190_Hthyroid stimulating hormone measurement QTL GWAS1095190 (human)4e-08thyroid stimulating hormone measurement205889088858890889Human
596960950GWAS1080469_Hglomerular filtration rate QTL GWAS1080469 (human)3e-26glomerular filtration rate205890204958902050Human
597423544GWAS1519618_HIGF-1 measurement QTL GWAS1519618 (human)9e-14IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)205888481358884814Human
597202878GWAS1298952_Hdiastolic blood pressure QTL GWAS1298952 (human)0.000006arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)205889103858891039Human
597197759GWAS1293833_Huric acid measurement QTL GWAS1293833 (human)4e-10blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)205890013658900137Human
597086138GWAS1182212_Htype 2 diabetes mellitus QTL GWAS1182212 (human)1e-08type 2 diabetes mellitus205890212258902123Human
597421225GWAS1517299_Hsystolic blood pressure QTL GWAS1517299 (human)4e-11arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)205889088858890889Human
597157925GWAS1253999_Htriglyceride:HDL cholesterol ratio QTL GWAS1253999 (human)0.0000007blood triglyceride amount (VT:0002644)205889103858891039Human
597361193GWAS1457267_HFEV/FVC ratio, response to bronchodilator QTL GWAS1457267 (human)0.0000009lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)205890718558907186Human
597338665GWAS1434739_Hpeptic ulcer disease QTL GWAS1434739 (human)6e-13peptic ulcer disease205890183558901836Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
597410477GWAS1506551_Htrait in response to sulfasalazine, Drug-induced agranulocytosis QTL GWAS1506551 (human)0.0000002trait in response to sulfasalazine, Drug-induced agranulocytosis205889867358898674Human
596976045GWAS1095564_Hbody height QTL GWAS1095564 (human)2e-22body height205888841758888418Human
597454884GWAS1550958_Hdiastolic blood pressure QTL GWAS1550958 (human)2e-16arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)205889088858890889Human
596978860GWAS1098379_Hblood urea nitrogen measurement QTL GWAS1098379 (human)2e-11blood urea nitrogen measurement205890204958902050Human
597308320GWAS1404394_HBMI-adjusted hip circumference QTL GWAS1404394 (human)3e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)205889103858891039Human
596978857GWAS1098376_Hblood urea nitrogen measurement QTL GWAS1098376 (human)1e-12blood urea nitrogen measurement205889401858894019Human
597110059GWAS1206133_Hurate measurement QTL GWAS1206133 (human)0.0000003urate measurementblood uric acid level (CMO:0000501)205889711958897120Human
596978859GWAS1098378_Hblood urea nitrogen measurement QTL GWAS1098378 (human)2e-11blood urea nitrogen measurement205890203558902036Human
597456035GWAS1552109_Hhigh density lipoprotein cholesterol measurement QTL GWAS1552109 (human)1e-09blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)205888481358884814Human
597338661GWAS1434735_Hduodenal ulcer QTL GWAS1434735 (human)1e-13intestine integrity trait (VT:0010554)205889622858896229Human
596978858GWAS1098377_Hblood urea nitrogen measurement QTL GWAS1098377 (human)3e-12blood urea nitrogen measurement205890175458901755Human
597582684GWAS1639544_Htype 2 diabetes mellitus QTL GWAS1639544 (human)3e-13type 2 diabetes mellitus205888686058886861Human
597582683GWAS1639543_Htype 2 diabetes mellitus QTL GWAS1639543 (human)4e-19type 2 diabetes mellitus205884005558840056Human
596963665GWAS1083184_Htype 2 diabetes mellitus QTL GWAS1083184 (human)2e-09type 2 diabetes mellitus205884534658845347Human
597263824GWAS1359898_HBMI-adjusted hip circumference QTL GWAS1359898 (human)1e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)205889103858891039Human
596988250GWAS1107769_Hbody height QTL GWAS1107769 (human)9e-14body height205884534658845347Human
597092057GWAS1188131_HBMI-adjusted waist circumference QTL GWAS1188131 (human)4e-08body size trait (VT:0100005)blood uric acid level (CMO:0000501)205889698858896989Human
597038041GWAS1134115_Hdiastolic blood pressure QTL GWAS1134115 (human)0.000009arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)205889711958897120Human
596979141GWAS1098660_Hblood urea nitrogen measurement QTL GWAS1098660 (human)2e-11blood urea nitrogen measurement205890215658902157Human
596979142GWAS1098661_Hblood urea nitrogen measurement QTL GWAS1098661 (human)3e-11blood urea nitrogen measurement205890275758902758Human
407275923GWAS924899_Hchromatid-type aberration frequency QTL GWAS924899 (human)0.000008chromatid-type aberration frequency205888271458882715Human
597111503GWAS1207577_Hurate measurement QTL GWAS1207577 (human)2e-08urate measurementblood uric acid level (CMO:0000501)205889711958897120Human
597347264GWAS1443338_Hurate measurement QTL GWAS1443338 (human)1e-13urate measurementblood uric acid level (CMO:0000501)205889711958897120Human
597435456GWAS1531530_HCalcium channel blocker use measurement QTL GWAS1531530 (human)6e-09Calcium channel blocker use measurement205888893858888939Human
597486840GWAS1582914_Hblood vanadium measurement QTL GWAS1582914 (human)0.000002blood vanadium measurement205890407858904079Human
597338236GWAS1434310_Hduodenal ulcer, gastric ulcer QTL GWAS1434310 (human)2e-09intestine integrity trait (VT:0010554)205888411258884113Human
597291134GWAS1387208_Hsize QTL GWAS1387208 (human)1e-09size205889103858891039Human
597410419GWAS1506493_Hhigh density lipoprotein cholesterol measurement QTL GWAS1506493 (human)4e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)205888481358884814Human
596976637GWAS1096156_Hbody height QTL GWAS1096156 (human)6e-28body height205889103858891039Human
597167856GWAS1263930_Hdiastolic blood pressure QTL GWAS1263930 (human)8e-10arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)205889711958897120Human
596959613GWAS1079132_Hglomerular filtration rate QTL GWAS1079132 (human)1e-20glomerular filtration rate205890204958902050Human
597348470GWAS1444544_Hsystolic blood pressure QTL GWAS1444544 (human)0.0000001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)205888841758888418Human
597197173GWAS1293247_Hvital capacity QTL GWAS1293247 (human)1e-08lung capacity (VT:0001942)205885755158857552Human
596959460GWAS1078979_Hglomerular filtration rate QTL GWAS1078979 (human)2e-17glomerular filtration rate205890204958902050Human
597125728GWAS1221802_HMyopia QTL GWAS1221802 (human)0.000003Myopia205885924558859246Human
597200367GWAS1296441_Hcolorectal cancer QTL GWAS1296441 (human)2e-08colorectal cancer205890013658900137Human
597071087GWAS1167161_Huric acid measurement QTL GWAS1167161 (human)2e-08blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)205888841758888418Human
597338465GWAS1434539_Hpeptic ulcer disease QTL GWAS1434539 (human)2e-14peptic ulcer disease205889051658890517Human
597236322GWAS1332396_Hcalcium measurement QTL GWAS1332396 (human)2e-08calcium amount (VT:0010499)blood calcium level (CMO:0000502)205889103858891039Human
597072235GWAS1168309_Hmean arterial pressure QTL GWAS1168309 (human)4e-08arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)205889711958897120Human
597116393GWAS1212467_Huric acid measurement QTL GWAS1212467 (human)5e-10blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)205888841758888418Human
597581280GWAS1638140_Huric acid measurement QTL GWAS1638140 (human)8e-12blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)205889141258891413Human
597419493GWAS1515567_Hurate measurement QTL GWAS1515567 (human)2e-13urate measurementblood uric acid level (CMO:0000501)205889711958897120Human
597108328GWAS1204402_Hurate measurement QTL GWAS1204402 (human)0.000004urate measurementblood uric acid level (CMO:0000501)205889711958897120Human

Markers in Region
D20S459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,439,859 - 57,440,088UniSTSGRCh37
Build 362056,873,254 - 56,873,483RGDNCBI36
Celera2054,180,300 - 54,180,529RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,226,800 - 54,227,029UniSTS
Whitehead-RH Map20341.4UniSTS
Whitehead-YAC Contig Map20 UniSTS
NCBI RH Map20583.1UniSTS
SHGC-58255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,470,154 - 57,470,382UniSTSGRCh37
Build 362056,903,549 - 56,903,777RGDNCBI36
Celera2054,210,594 - 54,210,822RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,256,995 - 54,257,223UniSTS
TNG Radiation Hybrid Map2026502.0UniSTS
RH98861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,473,613 - 57,473,792UniSTSGRCh37
Build 362056,907,008 - 56,907,187RGDNCBI36
Celera2054,214,054 - 54,214,233RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,260,454 - 54,260,633UniSTS
GeneMap99-GB4 RH Map20335.45UniSTS
RH75699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,430,031 - 57,430,265UniSTSGRCh37
Build 362056,863,426 - 56,863,660RGDNCBI36
Celera2054,170,472 - 54,170,706RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,216,972 - 54,217,206UniSTS
RH93711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,469,249 - 57,469,370UniSTSGRCh37
Build 362056,902,644 - 56,902,765RGDNCBI36
Celera2054,209,689 - 54,209,810RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,256,090 - 54,256,211UniSTS
GeneMap99-GB4 RH Map20336.9UniSTS
GDB:180724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,474,606 - 57,474,825UniSTSGRCh37
Build 362056,908,001 - 56,908,220RGDNCBI36
Celera2054,215,047 - 54,215,266RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,261,447 - 54,261,666UniSTS
GDB:203981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,478,668 - 57,478,939UniSTSGRCh37
Build 362056,912,063 - 56,912,334RGDNCBI36
Celera2054,219,109 - 54,219,380RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,265,509 - 54,265,780UniSTS
GDB:393268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,478,588 - 57,478,843UniSTSGRCh37
Build 362056,911,983 - 56,912,238RGDNCBI36
Celera2054,219,029 - 54,219,284RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,265,429 - 54,265,684UniSTS
WI-11711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,471,521 - 57,471,646UniSTSGRCh37
Build 362056,904,916 - 56,905,041RGDNCBI36
Celera2054,211,962 - 54,212,087RGD
Cytogenetic Map20q13.3UniSTS
GeneMap99-GB4 RH Map20335.5UniSTS
Whitehead-RH Map20341.4UniSTS
NCBI RH Map20583.1UniSTS
GNAS1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,484,742 - 57,485,076UniSTSGRCh37
Build 362056,918,137 - 56,918,471RGDNCBI36
Celera2054,225,183 - 54,225,517RGD
HuRef2054,271,583 - 54,271,917UniSTS
PMC182207P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,484,250 - 57,484,520UniSTSGRCh37
Build 362056,917,645 - 56,917,915RGDNCBI36
Celera2054,224,691 - 54,224,961RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,271,091 - 54,271,361UniSTS
PMC22380P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,429,938 - 57,430,276UniSTSGRCh37
Build 362056,863,333 - 56,863,671RGDNCBI36
Celera2054,170,379 - 54,170,717RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,216,879 - 54,217,217UniSTS
PMC301417P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,464,132 - 57,464,622UniSTSGRCh37
Build 362056,897,527 - 56,898,017RGDNCBI36
Celera2054,204,572 - 54,205,062RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,251,074 - 54,251,564UniSTS
PMC301417P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,415,354 - 57,415,669UniSTSGRCh37
Build 362056,848,749 - 56,849,064RGDNCBI36
Celera2054,155,816 - 54,156,131RGD
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map20q13.3UniSTS
HuRef2054,202,316 - 54,202,631UniSTS
SHGC-60147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,473,553 - 57,473,747UniSTSGRCh37
Build 362056,906,948 - 56,907,142RGDNCBI36
Celera2054,213,994 - 54,214,188RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,260,394 - 54,260,588UniSTS
TNG Radiation Hybrid Map2026499.0UniSTS
STS-M21142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,486,006 - 57,486,262UniSTSGRCh37
Build 362056,919,401 - 56,919,657RGDNCBI36
Celera2054,226,447 - 54,226,703RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,272,850 - 54,273,106UniSTS
GeneMap99-GB4 RH Map20336.86UniSTS
NCBI RH Map20583.1UniSTS
RH68035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,473,590 - 57,473,698UniSTSGRCh37
Build 362056,906,985 - 56,907,093RGDNCBI36
Celera2054,214,031 - 54,214,139RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,260,431 - 54,260,539UniSTS
GeneMap99-GB4 RH Map20335.45UniSTS
NCBI RH Map20583.1UniSTS
WI-18315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,482,668 - 57,482,800UniSTSGRCh37
Build 362056,916,063 - 56,916,195RGDNCBI36
Celera2054,223,109 - 54,223,241RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,269,509 - 54,269,641UniSTS
GeneMap99-GB4 RH Map20336.9UniSTS
GeneMap99-GB4 RH Map20338.22UniSTS
Whitehead-RH Map20343.1UniSTS
NCBI RH Map20583.1UniSTS
RH47664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,455,936 - 57,456,101UniSTSGRCh37
Build 362056,889,331 - 56,889,496RGDNCBI36
Celera2054,196,376 - 54,196,541RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,242,878 - 54,243,043UniSTS
GeneMap99-GB4 RH Map20335.45UniSTS
NCBI RH Map20583.1UniSTS
RH11717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,485,885 - 57,486,045UniSTSGRCh37
Build 362056,919,280 - 56,919,440RGDNCBI36
Celera2054,226,326 - 54,226,486RGD
Cytogenetic Map20q13.3UniSTS
HuRef2054,272,729 - 54,272,889UniSTS
GeneMap99-GB4 RH Map20336.9UniSTS
NCBI RH Map20583.1UniSTS
SHGC-59923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,473,387 - 57,473,571UniSTSGRCh37
GRCh372057,473,346 - 57,473,571UniSTSGRCh37
Build 362056,906,741 - 56,906,966RGDNCBI36
Celera2054,213,787 - 54,214,012RGD
Celera2054,213,828 - 54,214,012UniSTS
Cytogenetic Map20q13.3UniSTS
HuRef2054,260,187 - 54,260,412UniSTS
HuRef2054,260,228 - 54,260,412UniSTS
MARC_5561-5562:1031675650:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,485,054 - 57,485,794UniSTSGRCh37
Build 362056,918,449 - 56,919,189RGDNCBI36
Celera2054,225,495 - 54,226,235RGD
HuRef2054,271,895 - 54,272,638UniSTS
GNAS_3080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,485,768 - 57,486,364UniSTSGRCh37
Build 362056,919,163 - 56,919,759RGDNCBI36
Celera2054,226,209 - 54,226,805RGD
HuRef2054,272,612 - 54,273,208UniSTS
D13S1553  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.2-q34.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6p25.1UniSTS
D20S541E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20q13.3UniSTS
Gnas  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,484,739 - 57,485,823UniSTSGRCh37
Celera2054,225,180 - 54,226,264UniSTS
HuRef2054,271,580 - 54,272,667UniSTS


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 2438 2788 2253 4973 1726 2349 6 624 1951 465 2269 7305 6472 53 3734 1 852 1744 1615 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001309840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001309842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001309861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001309883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001439291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_132272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_132273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA948160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF105253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF107846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF246983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ009849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL537118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV751821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY898804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF800576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF879848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM894355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ029639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ230306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU857975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA335150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB530031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN273438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN295544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN403086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX869731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB037677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB483472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU307665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY141824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC724059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW503931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U12466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265620   ⟹   ENSP00000265620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,364 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000306090   ⟹   ENSP00000304472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,840,844 - 58,910,829 (+)Ensembl
Ensembl Acc Id: ENST00000306120   ⟹   ENSP00000302237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,853,261 - 58,855,333 (+)Ensembl
Ensembl Acc Id: ENST00000313949   ⟹   ENSP00000323571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,839,718 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000338783   ⟹   ENSP00000345971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,727 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000349036   ⟹   ENSP00000265621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,853,266 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000354359   ⟹   ENSP00000346328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,421 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000371075   ⟹   ENSP00000360115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,839,748 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000371081   ⟹   ENSP00000360122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,716 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000371085   ⟹   ENSP00000360126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,421 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000371095   ⟹   ENSP00000360136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,302 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000371098   ⟹   ENSP00000360139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,839,748 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000371099   ⟹   ENSP00000360140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,853,263 - 58,857,191 (+)Ensembl
Ensembl Acc Id: ENST00000371100   ⟹   ENSP00000360141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,852,716 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000371102   ⟹   ENSP00000360143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,853,263 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000419558   ⟹   ENSP00000416234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,839,748 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000423897   ⟹   ENSP00000412356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,853,266 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000450130   ⟹   ENSP00000412424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,855,107 - 58,909,183 (+)Ensembl
Ensembl Acc Id: ENST00000453292   ⟹   ENSP00000392000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,840,107 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000461152   ⟹   ENSP00000499274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,881 - 58,903,585 (+)Ensembl
Ensembl Acc Id: ENST00000462499   ⟹   ENSP00000499758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,841,618 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000464624   ⟹   ENSP00000499607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,853,263 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000464788   ⟹   ENSP00000499239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,147 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000464960   ⟹   ENSP00000499613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,888,413 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000467227   ⟹   ENSP00000499681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,843,325 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000467321   ⟹   ENSP00000499523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,888,893 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000468895   ⟹   ENSP00000499551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,691 - 58,911,143 (+)Ensembl
Ensembl Acc Id: ENST00000469431   ⟹   ENSP00000499654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,151 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000470512   ⟹   ENSP00000499552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,144 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000472183   ⟹   ENSP00000499673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,841,485 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000475610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,768 - 58,910,781 (+)Ensembl
Ensembl Acc Id: ENST00000476196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,981 - 58,911,190 (+)Ensembl
Ensembl Acc Id: ENST00000476935   ⟹   ENSP00000499409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,892,037 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000477931   ⟹   ENSP00000499660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,100 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000478585   ⟹   ENSP00000499762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,160 - 58,911,179 (+)Ensembl
Ensembl Acc Id: ENST00000479025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,908,916 - 58,909,715 (+)Ensembl
Ensembl Acc Id: ENST00000480232   ⟹   ENSP00000499545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,223 - 58,911,179 (+)Ensembl
Ensembl Acc Id: ENST00000480975   ⟹   ENSP00000499392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,171 - 58,911,179 (+)Ensembl
Ensembl Acc Id: ENST00000481039   ⟹   ENSP00000499767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,888,859 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000481768   ⟹   ENSP00000499644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,852,714 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000482112   ⟹   ENSP00000499794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,841,618 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000483387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,894,975 - 58,900,363 (+)Ensembl
Ensembl Acc Id: ENST00000484504   ⟹   ENSP00000499259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,227 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000485673   ⟹   ENSP00000499334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,124 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000487862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,895,197 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000487981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,903,537 - 58,909,712 (+)Ensembl
Ensembl Acc Id: ENST00000488546   ⟹   ENSP00000499332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,888,779 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000488652   ⟹   ENSP00000499435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,981 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000490374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,841,654 - 58,909,216 (+)Ensembl
Ensembl Acc Id: ENST00000491348   ⟹   ENSP00000499272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,841,343 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000492907   ⟹   ENSP00000499443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,892,078 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000493744   ⟹   ENSP00000499376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,841,644 - 58,900,410 (+)Ensembl
Ensembl Acc Id: ENST00000493958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,903,741 - 58,909,776 (+)Ensembl
Ensembl Acc Id: ENST00000494081   ⟹   ENSP00000499352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,903,531 - 58,910,365 (+)Ensembl
Ensembl Acc Id: ENST00000496934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,897,440 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000603546   ⟹   ENSP00000474802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,892,333 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000604005   ⟹   ENSP00000474219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,160 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000656419   ⟹   ENSP00000499614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,907,981 - 58,911,030 (+)Ensembl
Ensembl Acc Id: ENST00000657090   ⟹   ENSP00000499380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,839,783 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000663479   ⟹   ENSP00000499353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,841,622 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000667293   ⟹   ENSP00000499293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,888,849 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000676826   ⟹   ENSP00000504675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,852,714 - 58,911,192 (+)Ensembl
Ensembl Acc Id: ENST00000682092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,768 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000682134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,893,100 - 58,911,187 (+)Ensembl
Ensembl Acc Id: ENST00000682411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,770 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000682590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,768 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000682680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,840 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000682803   ⟹   ENSP00000507069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,891,754 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000682829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,893,100 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000682917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,832 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000682986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,768 - 58,911,148 (+)Ensembl
Ensembl Acc Id: ENST00000683015   ⟹   ENSP00000506815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,889,881 - 58,911,187 (+)Ensembl
Ensembl Acc Id: ENST00000683632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,759 - 58,911,181 (+)Ensembl
Ensembl Acc Id: ENST00000683932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,770 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000684284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,893,095 - 58,911,187 (+)Ensembl
Ensembl Acc Id: ENST00000684466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,768 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000684644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,768 - 58,911,186 (+)Ensembl
Ensembl Acc Id: ENST00000684761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2058,902,768 - 58,911,186 (+)Ensembl
RefSeq Acc Id: NM_000516   ⟹   NP_000507
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,891,421 - 58,911,192 (+)NCBI
GRCh372057,414,756 - 57,486,250 (+)NCBI
Build 362056,899,821 - 56,919,645 (+)NCBI Archive
HuRef2054,201,757 - 54,273,094 (+)ENTREZGENE
CHM1_12057,366,213 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,674,551 - 60,694,319 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001077488   ⟹   NP_001070956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,891,421 - 58,911,192 (+)NCBI
GRCh372057,414,756 - 57,486,250 (+)NCBI
Build 362056,900,164 - 56,919,645 (+)NCBI Archive
HuRef2054,201,757 - 54,273,094 (+)ENTREZGENE
CHM1_12057,366,213 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,674,551 - 60,694,319 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001077489   ⟹   NP_001070957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,891,421 - 58,911,189 (+)NCBI
GRCh372057,414,756 - 57,486,250 (+)NCBI
Build 362056,899,820 - 56,919,645 (+)NCBI Archive
HuRef2054,201,757 - 54,273,094 (+)ENTREZGENE
CHM1_12057,366,213 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,674,551 - 60,694,316 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001077490   ⟹   NP_001070958
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,852,716 - 58,911,192 (+)NCBI
GRCh372057,414,756 - 57,486,250 (+)NCBI
Build 362056,861,431 - 56,919,645 (+)NCBI Archive
HuRef2054,201,757 - 54,273,094 (+)ENTREZGENE
CHM1_12057,329,903 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,635,835 - 60,694,319 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001309840   ⟹   NP_001296769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,189 (+)NCBI
CHM1_12057,366,048 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,672,299 - 60,694,316 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001309842   ⟹   NP_001296771
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,891,421 - 58,900,499 (+)NCBI
CHM1_12057,366,213 - 57,376,954 (+)NCBI
T2T-CHM13v2.02060,674,551 - 60,683,631 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001309861   ⟹   NP_001296790
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,841,620 - 58,911,189 (+)NCBI
CHM1_12057,318,547 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,624,760 - 60,694,316 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001309883   ⟹   NP_001296812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,852,981 - 58,900,499 (+)NCBI
CHM1_12057,329,903 - 57,376,954 (+)NCBI
T2T-CHM13v2.02060,636,100 - 60,683,631 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001410912   ⟹   NP_001397841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,839,748 - 58,911,192 (+)NCBI
T2T-CHM13v2.02060,622,888 - 60,694,319 (+)NCBI
RefSeq Acc Id: NM_001410913   ⟹   NP_001397842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,852,716 - 58,911,192 (+)NCBI
T2T-CHM13v2.02060,635,835 - 60,694,319 (+)NCBI
RefSeq Acc Id: NM_016592   ⟹   NP_057676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,839,748 - 58,911,192 (+)NCBI
GRCh372057,414,756 - 57,486,250 (+)NCBI
Build 362056,848,190 - 56,919,645 (+)NCBI Archive
HuRef2054,201,757 - 54,273,094 (+)ENTREZGENE
CHM1_12057,316,663 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,622,888 - 60,694,319 (+)NCBI
Sequence:
RefSeq Acc Id: NM_080425   ⟹   NP_536350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,852,716 - 58,911,192 (+)NCBI
GRCh372057,414,756 - 57,486,250 (+)NCBI
HuRef2054,201,757 - 54,273,094 (+)ENTREZGENE
CHM1_12057,329,903 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,635,835 - 60,694,319 (+)NCBI
Sequence:
RefSeq Acc Id: NM_080426   ⟹   NP_536351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,891,421 - 58,911,189 (+)NCBI
GRCh372057,414,756 - 57,486,250 (+)NCBI
Build 362056,899,821 - 56,919,645 (+)NCBI Archive
HuRef2054,201,757 - 54,273,094 (+)ENTREZGENE
CHM1_12057,366,213 - 57,387,668 (+)NCBI
T2T-CHM13v2.02060,674,551 - 60,694,316 (+)NCBI
Sequence:
RefSeq Acc Id: NR_132272
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,892,163 - 58,900,499 (+)NCBI
CHM1_12057,368,609 - 57,376,954 (+)NCBI
T2T-CHM13v2.02060,675,293 - 60,683,631 (+)NCBI
Sequence:
RefSeq Acc Id: NR_132273
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,888,413 - 58,900,499 (+)NCBI
CHM1_12057,365,336 - 57,376,954 (+)NCBI
T2T-CHM13v2.02060,671,532 - 60,683,631 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027812   ⟹   XP_016883301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,852,716 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027813   ⟹   XP_016883302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,852,716 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027815   ⟹   XP_016883304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,839,748 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027817   ⟹   XP_016883306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027818   ⟹   XP_016883307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,892,163 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027819   ⟹   XP_016883308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027820   ⟹   XP_016883309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,895,612 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451873   ⟹   XP_024307641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,892,163 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451875   ⟹   XP_024307643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440113   ⟹   XP_047296069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,839,748 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440114   ⟹   XP_047296070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,841,620 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440115   ⟹   XP_047296071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,892,163 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440116   ⟹   XP_047296072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,892,163 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440117   ⟹   XP_047296073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440118   ⟹   XP_047296074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440119   ⟹   XP_047296075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,892,163 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440120   ⟹   XP_047296076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440121   ⟹   XP_047296077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440122   ⟹   XP_047296078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,841,620 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440123   ⟹   XP_047296079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,892,163 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440124   ⟹   XP_047296080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,898,944 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_047440125   ⟹   XP_047296081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,911,192 (+)NCBI
RefSeq Acc Id: XM_054323365   ⟹   XP_054179340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,635,835 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323366   ⟹   XP_054179341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,635,835 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323367   ⟹   XP_054179342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,672,299 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323368   ⟹   XP_054179343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,672,299 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323369   ⟹   XP_054179344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,672,299 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323370   ⟹   XP_054179345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,622,888 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323371   ⟹   XP_054179346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,622,888 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323372   ⟹   XP_054179347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,624,760 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323373   ⟹   XP_054179348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,675,293 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323374   ⟹   XP_054179349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,675,293 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323375   ⟹   XP_054179350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,675,293 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323376   ⟹   XP_054179351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,675,293 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323377   ⟹   XP_054179352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,678,743 - 60,694,319 (+)NCBI
RefSeq Acc Id: XM_054323378   ⟹   XP_054179353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02060,624,760 - 60,694,319 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000507 (Get FASTA)   NCBI Sequence Viewer  
  NP_001070956 (Get FASTA)   NCBI Sequence Viewer  
  NP_001070957 (Get FASTA)   NCBI Sequence Viewer  
  NP_001070958 (Get FASTA)   NCBI Sequence Viewer  
  NP_001296769 (Get FASTA)   NCBI Sequence Viewer  
  NP_001296771 (Get FASTA)   NCBI Sequence Viewer  
  NP_001296790 (Get FASTA)   NCBI Sequence Viewer  
  NP_001296812 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397841 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397842 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425202 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425203 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425204 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425205 (Get FASTA)   NCBI Sequence Viewer  
  NP_001426220 (Get FASTA)   NCBI Sequence Viewer  
  NP_057676 (Get FASTA)   NCBI Sequence Viewer  
  NP_536350 (Get FASTA)   NCBI Sequence Viewer  
  NP_536351 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883301 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883302 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883304 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883306 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883307 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883308 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883309 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307641 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307643 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296069 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296070 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296071 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296072 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296073 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296074 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296075 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296076 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296077 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296078 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296079 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296080 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179340 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179341 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179342 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179343 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179344 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179345 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179346 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179347 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179348 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179349 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179350 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179351 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179352 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179353 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52583 (Get FASTA)   NCBI Sequence Viewer  
  AAA53146 (Get FASTA)   NCBI Sequence Viewer  
  AAA53147 (Get FASTA)   NCBI Sequence Viewer  
  AAA53148 (Get FASTA)   NCBI Sequence Viewer  
  AAA53149 (Get FASTA)   NCBI Sequence Viewer  
  AAB60334 (Get FASTA)   NCBI Sequence Viewer  
  AAC16860 (Get FASTA)   NCBI Sequence Viewer  
  AAC34896 (Get FASTA)   NCBI Sequence Viewer  
  AAC34897 (Get FASTA)   NCBI Sequence Viewer  
  AAD11804 (Get FASTA)   NCBI Sequence Viewer  
  AAF63226 (Get FASTA)   NCBI Sequence Viewer  
  AAH02722 (Get FASTA)   NCBI Sequence Viewer  
  AAH08855 (Get FASTA)   NCBI Sequence Viewer  
  AAH22875 (Get FASTA)   NCBI Sequence Viewer  
  AAH66923 (Get FASTA)   NCBI Sequence Viewer  
  AAH89157 (Get FASTA)   NCBI Sequence Viewer  
  AAI04929 (Get FASTA)   NCBI Sequence Viewer  
  AAI08316 (Get FASTA)   NCBI Sequence Viewer  
  AAM12611 (Get FASTA)   NCBI Sequence Viewer  
  AAM12612 (Get FASTA)   NCBI Sequence Viewer  
  AAP88907 (Get FASTA)   NCBI Sequence Viewer  
  AAX51890 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33553 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33554 (Get FASTA)   NCBI Sequence Viewer  
  BAF98751 (Get FASTA)   NCBI Sequence Viewer  
  BAF98765 (Get FASTA)   NCBI Sequence Viewer  
  BAG37135 (Get FASTA)   NCBI Sequence Viewer  
  CAA08889 (Get FASTA)   NCBI Sequence Viewer  
  CAA12164 (Get FASTA)   NCBI Sequence Viewer  
  CAA12165 (Get FASTA)   NCBI Sequence Viewer  
  CAA27996 (Get FASTA)   NCBI Sequence Viewer  
  CAA27997 (Get FASTA)   NCBI Sequence Viewer  
  CAA30084 (Get FASTA)   NCBI Sequence Viewer  
  CAA39484 (Get FASTA)   NCBI Sequence Viewer  
  CAB83214 (Get FASTA)   NCBI Sequence Viewer  
  CAB83215 (Get FASTA)   NCBI Sequence Viewer  
  EAW75457 (Get FASTA)   NCBI Sequence Viewer  
  EAW75458 (Get FASTA)   NCBI Sequence Viewer  
  EAW75459 (Get FASTA)   NCBI Sequence Viewer  
  EAW75460 (Get FASTA)   NCBI Sequence Viewer  
  EAW75461 (Get FASTA)   NCBI Sequence Viewer  
  EAW75462 (Get FASTA)   NCBI Sequence Viewer  
  EAW75463 (Get FASTA)   NCBI Sequence Viewer  
  EAW75464 (Get FASTA)   NCBI Sequence Viewer  
  EAW75465 (Get FASTA)   NCBI Sequence Viewer  
  EAW75466 (Get FASTA)   NCBI Sequence Viewer  
  EAW75467 (Get FASTA)   NCBI Sequence Viewer  
  EAW75468 (Get FASTA)   NCBI Sequence Viewer  
  EAW75469 (Get FASTA)   NCBI Sequence Viewer  
  EAW75470 (Get FASTA)   NCBI Sequence Viewer  
  EAW75471 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265620
  ENSP00000265620.7
  ENSP00000265621
  ENSP00000302237
  ENSP00000304472
  ENSP00000323571.7
  ENSP00000346328
  ENSP00000346328.7
  ENSP00000360115
  ENSP00000360115.3
  ENSP00000360122
  ENSP00000360126
  ENSP00000360126.3
  ENSP00000360136
  ENSP00000360136.3
  ENSP00000360139.2
  ENSP00000360141
  ENSP00000360141.3
  ENSP00000360143
  ENSP00000360143.4
  ENSP00000392000.2
  ENSP00000416234.2
  ENSP00000474219
  ENSP00000499353
  ENSP00000499392
  ENSP00000499409
  ENSP00000499435
  ENSP00000499443
  ENSP00000499552
  ENSP00000499644.2
  ENSP00000499660
  ENSP00000499673
  ENSP00000499762
  ENSP00000499794
  ENSP00000504675
GenBank Protein O95467 (Get FASTA)   NCBI Sequence Viewer  
  P63092 (Get FASTA)   NCBI Sequence Viewer  
  P84996 (Get FASTA)   NCBI Sequence Viewer  
  Q5JWF2 (Get FASTA)   NCBI Sequence Viewer  
  UQU74479 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_057676   ⟸   NM_016592
- Peptide Label: isoform SCG6
- UniProtKB: E1P5G2 (UniProtKB/Swiss-Prot),   B2RB88 (UniProtKB/Swiss-Prot),   O95417 (UniProtKB/Swiss-Prot),   O95467 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_536350   ⟸   NM_080425
- Peptide Label: isoform XLas
- UniProtKB: Q5JWF1 (UniProtKB/Swiss-Prot),   Q5JW67 (UniProtKB/Swiss-Prot),   O75685 (UniProtKB/Swiss-Prot),   O75684 (UniProtKB/Swiss-Prot),   E1P5G3 (UniProtKB/Swiss-Prot),   A2A2S3 (UniProtKB/Swiss-Prot),   Q9NY42 (UniProtKB/Swiss-Prot),   Q5JWF2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001070958   ⟸   NM_001077490
- Peptide Label: isoform Alex
- UniProtKB: A2A2S4 (UniProtKB/Swiss-Prot),   P84996 (UniProtKB/Swiss-Prot),   A0A8I5F5B5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001070956   ⟸   NM_001077488
- Peptide Label: isoform f
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000507   ⟸   NM_000516
- Peptide Label: isoform GNASL
- UniProtKB: Q5JWD2 (UniProtKB/Swiss-Prot),   Q32P26 (UniProtKB/Swiss-Prot),   Q14433 (UniProtKB/Swiss-Prot),   Q12927 (UniProtKB/Swiss-Prot),   P04895 (UniProtKB/Swiss-Prot),   E1P5G5 (UniProtKB/Swiss-Prot),   A6NI00 (UniProtKB/Swiss-Prot),   Q8TBC0 (UniProtKB/Swiss-Prot),   Q6NXS0 (UniProtKB/Swiss-Prot),   Q6NR75 (UniProtKB/Swiss-Prot),   Q5JWD5 (UniProtKB/Swiss-Prot),   Q5JWD4 (UniProtKB/Swiss-Prot),   Q96H70 (UniProtKB/Swiss-Prot),   P63092 (UniProtKB/Swiss-Prot),   A0A0S2Z3H8 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_536351   ⟸   NM_080426
- Peptide Label: isoform GNASS
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL),   A0A0S2Z3S5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001070957   ⟸   NM_001077489
- Peptide Label: isoform g
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001296790   ⟸   NM_001309861
- Peptide Label: isoform h
- UniProtKB: B0AZR9 (UniProtKB/TrEMBL),   S4R3V9 (UniProtKB/TrEMBL),   A0A9K3Y787 (UniProtKB/TrEMBL),   A0A590UJ22 (UniProtKB/TrEMBL),   A0A590UJ58 (UniProtKB/TrEMBL),   A0A590UJI6 (UniProtKB/TrEMBL),   A0A590UJQ2 (UniProtKB/TrEMBL),   A0A590UJY8 (UniProtKB/TrEMBL),   S4R3E3 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001296812   ⟸   NM_001309883
- Peptide Label: isoform Alex
- UniProtKB: A2A2S4 (UniProtKB/Swiss-Prot),   P84996 (UniProtKB/Swiss-Prot),   A0A8I5F5B5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001296769   ⟸   NM_001309840
- Peptide Label: isoform h
- UniProtKB: B0AZR9 (UniProtKB/TrEMBL),   S4R3V9 (UniProtKB/TrEMBL),   A0A9K3Y787 (UniProtKB/TrEMBL),   A0A590UJ22 (UniProtKB/TrEMBL),   A0A590UJ58 (UniProtKB/TrEMBL),   A0A590UJI6 (UniProtKB/TrEMBL),   A0A590UJQ2 (UniProtKB/TrEMBL),   A0A590UJY8 (UniProtKB/TrEMBL),   S4R3E3 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001296771   ⟸   NM_001309842
- Peptide Label: isoform i
- UniProtKB: Q5JWD1 (UniProtKB/TrEMBL),   A2A2R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883304   ⟸   XM_017027815
- Peptide Label: isoform X4
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883301   ⟸   XM_017027812
- Peptide Label: isoform X1
- UniProtKB: A0A7I2V5R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883302   ⟸   XM_017027813
- Peptide Label: isoform X2
- UniProtKB: Q5JWF2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883306   ⟸   XM_017027817
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016883308   ⟸   XM_017027819
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016883307   ⟸   XM_017027818
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016883309   ⟸   XM_017027820
- Peptide Label: isoform X9
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307643   ⟸   XM_024451875
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024307641   ⟸   XM_024451873
- Peptide Label: isoform X6
- Sequence:
Ensembl Acc Id: ENSP00000412356   ⟸   ENST00000423897
Ensembl Acc Id: ENSP00000499660   ⟸   ENST00000477931
Ensembl Acc Id: ENSP00000304472   ⟸   ENST00000306090
Ensembl Acc Id: ENSP00000302237   ⟸   ENST00000306120
Ensembl Acc Id: ENSP00000360141   ⟸   ENST00000371100
Ensembl Acc Id: ENSP00000360143   ⟸   ENST00000371102
Ensembl Acc Id: ENSP00000360136   ⟸   ENST00000371095
Ensembl Acc Id: ENSP00000360139   ⟸   ENST00000371098
Ensembl Acc Id: ENSP00000360140   ⟸   ENST00000371099
Ensembl Acc Id: ENSP00000360115   ⟸   ENST00000371075
Ensembl Acc Id: ENSP00000360122   ⟸   ENST00000371081
Ensembl Acc Id: ENSP00000360126   ⟸   ENST00000371085
Ensembl Acc Id: ENSP00000499607   ⟸   ENST00000464624
Ensembl Acc Id: ENSP00000499239   ⟸   ENST00000464788
Ensembl Acc Id: ENSP00000412424   ⟸   ENST00000450130
Ensembl Acc Id: ENSP00000499613   ⟸   ENST00000464960
Ensembl Acc Id: ENSP00000499762   ⟸   ENST00000478585
Ensembl Acc Id: ENSP00000499272   ⟸   ENST00000491348
Ensembl Acc Id: ENSP00000499353   ⟸   ENST00000663479
Ensembl Acc Id: ENSP00000499681   ⟸   ENST00000467227
Ensembl Acc Id: ENSP00000499523   ⟸   ENST00000467321
Ensembl Acc Id: ENSP00000265621   ⟸   ENST00000349036
Ensembl Acc Id: ENSP00000499443   ⟸   ENST00000492907
Ensembl Acc Id: ENSP00000392000   ⟸   ENST00000453292
Ensembl Acc Id: ENSP00000499376   ⟸   ENST00000493744
Ensembl Acc Id: ENSP00000499551   ⟸   ENST00000468895
Ensembl Acc Id: ENSP00000499654   ⟸   ENST00000469431
Ensembl Acc Id: ENSP00000499545   ⟸   ENST00000480232
Ensembl Acc Id: ENSP00000499352   ⟸   ENST00000494081
Ensembl Acc Id: ENSP00000499392   ⟸   ENST00000480975
Ensembl Acc Id: ENSP00000345971   ⟸   ENST00000338783
Ensembl Acc Id: ENSP00000499767   ⟸   ENST00000481039
Ensembl Acc Id: ENSP00000499293   ⟸   ENST00000667293
Ensembl Acc Id: ENSP00000499644   ⟸   ENST00000481768
Ensembl Acc Id: ENSP00000499794   ⟸   ENST00000482112
Ensembl Acc Id: ENSP00000416234   ⟸   ENST00000419558
Ensembl Acc Id: ENSP00000499552   ⟸   ENST00000470512
Ensembl Acc Id: ENSP00000323571   ⟸   ENST00000313949
Ensembl Acc Id: ENSP00000499259   ⟸   ENST00000484504
Ensembl Acc Id: ENSP00000499614   ⟸   ENST00000656419
Ensembl Acc Id: ENSP00000499334   ⟸   ENST00000485673
Ensembl Acc Id: ENSP00000474802   ⟸   ENST00000603546
Ensembl Acc Id: ENSP00000346328   ⟸   ENST00000354359
Ensembl Acc Id: ENSP00000474219   ⟸   ENST00000604005
Ensembl Acc Id: ENSP00000499380   ⟸   ENST00000657090
Ensembl Acc Id: ENSP00000499673   ⟸   ENST00000472183
Ensembl Acc Id: ENSP00000499435   ⟸   ENST00000488652
Ensembl Acc Id: ENSP00000499332   ⟸   ENST00000488546
Ensembl Acc Id: ENSP00000499274   ⟸   ENST00000461152
Ensembl Acc Id: ENSP00000265620   ⟸   ENST00000265620
Ensembl Acc Id: ENSP00000499758   ⟸   ENST00000462499
Ensembl Acc Id: ENSP00000499409   ⟸   ENST00000476935
Ensembl Acc Id: ENSP00000504675   ⟸   ENST00000676826
Ensembl Acc Id: ENSP00000507069   ⟸   ENST00000682803
Ensembl Acc Id: ENSP00000506815   ⟸   ENST00000683015
RefSeq Acc Id: XP_047296069   ⟸   XM_047440113
- Peptide Label: isoform X3
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296070   ⟸   XM_047440114
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR6 (UniProtKB/TrEMBL),   A0A590UJB7 (UniProtKB/TrEMBL),   A0A590UJQ9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296078   ⟸   XM_047440122
- Peptide Label: isoform X8
- UniProtKB: A0A590UKA4 (UniProtKB/TrEMBL),   A0A590UJF0 (UniProtKB/TrEMBL),   A0A590UJG5 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296077   ⟸   XM_047440121
- Peptide Label: isoform X8
- UniProtKB: A0A590UKA4 (UniProtKB/TrEMBL),   A0A590UJF0 (UniProtKB/TrEMBL),   A0A590UJG5 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296081   ⟸   XM_047440125
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR6 (UniProtKB/TrEMBL),   A0A590UJB7 (UniProtKB/TrEMBL),   A0A590UJQ9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296074   ⟸   XM_047440118
- Peptide Label: isoform X7
- UniProtKB: A0A590UKB4 (UniProtKB/TrEMBL),   A0A590UJA5 (UniProtKB/TrEMBL),   A0A590UJB0 (UniProtKB/TrEMBL),   A0A590UJJ0 (UniProtKB/TrEMBL),   A0A590UK28 (UniProtKB/TrEMBL),   A0A590UKA1 (UniProtKB/TrEMBL),   A0A590UKA9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296073   ⟸   XM_047440117
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR6 (UniProtKB/TrEMBL),   A0A590UJB7 (UniProtKB/TrEMBL),   A0A590UJQ9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296076   ⟸   XM_047440120
- Peptide Label: isoform X7
- UniProtKB: A0A590UKB4 (UniProtKB/TrEMBL),   A0A590UJA5 (UniProtKB/TrEMBL),   A0A590UJB0 (UniProtKB/TrEMBL),   A0A590UJJ0 (UniProtKB/TrEMBL),   A0A590UK28 (UniProtKB/TrEMBL),   A0A590UKA1 (UniProtKB/TrEMBL),   A0A590UKA9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296072   ⟸   XM_047440116
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR6 (UniProtKB/TrEMBL),   A0A590UJB7 (UniProtKB/TrEMBL),   A0A590UJQ9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296079   ⟸   XM_047440123
- Peptide Label: isoform X8
- UniProtKB: A0A590UKA4 (UniProtKB/TrEMBL),   A0A590UJF0 (UniProtKB/TrEMBL),   A0A590UJG5 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296071   ⟸   XM_047440115
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR6 (UniProtKB/TrEMBL),   A0A590UJB7 (UniProtKB/TrEMBL),   A0A590UJQ9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296075   ⟸   XM_047440119
- Peptide Label: isoform X7
- UniProtKB: A0A590UKB4 (UniProtKB/TrEMBL),   A0A590UJA5 (UniProtKB/TrEMBL),   A0A590UJB0 (UniProtKB/TrEMBL),   A0A590UJJ0 (UniProtKB/TrEMBL),   A0A590UK28 (UniProtKB/TrEMBL),   A0A590UKA1 (UniProtKB/TrEMBL),   A0A590UKA9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296080   ⟸   XM_047440124
- Peptide Label: isoform X9
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397841   ⟸   NM_001410912
- Peptide Label: isoform j
- UniProtKB: A0A0A0MR13 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397842   ⟸   NM_001410913
- Peptide Label: isoform k
- UniProtKB: Q5JWE9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179345   ⟸   XM_054323370
- Peptide Label: isoform X3
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179346   ⟸   XM_054323371
- Peptide Label: isoform X4
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179347   ⟸   XM_054323372
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR6 (UniProtKB/TrEMBL),   A0A590UJB7 (UniProtKB/TrEMBL),   A0A590UJQ9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179353   ⟸   XM_054323378
- Peptide Label: isoform X8
- UniProtKB: A0A590UKA4 (UniProtKB/TrEMBL),   A0A590UJF0 (UniProtKB/TrEMBL),   A0A590UJG5 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179340   ⟸   XM_054323365
- Peptide Label: isoform X1
- UniProtKB: A0A7I2V5R6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179341   ⟸   XM_054323366
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054179342   ⟸   XM_054323367
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR6 (UniProtKB/TrEMBL),   A0A590UJB7 (UniProtKB/TrEMBL),   A0A590UJQ9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179343   ⟸   XM_054323368
- Peptide Label: isoform X7
- UniProtKB: A0A590UKB4 (UniProtKB/TrEMBL),   A0A590UJA5 (UniProtKB/TrEMBL),   A0A590UJB0 (UniProtKB/TrEMBL),   A0A590UJJ0 (UniProtKB/TrEMBL),   A0A590UK28 (UniProtKB/TrEMBL),   A0A590UKA1 (UniProtKB/TrEMBL),   A0A590UKA9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179344   ⟸   XM_054323369
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054179348   ⟸   XM_054323373
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR6 (UniProtKB/TrEMBL),   A0A590UJB7 (UniProtKB/TrEMBL),   A0A590UJQ9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179349   ⟸   XM_054323374
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054179350   ⟸   XM_054323375
- Peptide Label: isoform X7
- UniProtKB: A0A590UKB4 (UniProtKB/TrEMBL),   A0A590UJA5 (UniProtKB/TrEMBL),   A0A590UJB0 (UniProtKB/TrEMBL),   A0A590UJJ0 (UniProtKB/TrEMBL),   A0A590UK28 (UniProtKB/TrEMBL),   A0A590UKA1 (UniProtKB/TrEMBL),   A0A590UKA9 (UniProtKB/TrEMBL),   Q5FWY2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179351   ⟸   XM_054323376
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054179352   ⟸   XM_054323377
- Peptide Label: isoform X9
- UniProtKB: Q5FWY2 (UniProtKB/TrEMBL)
Protein Domains
G-alpha

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5JWF2-F1-model_v2 AlphaFold Q5JWF2 1-1037 view protein structure

Promoters
RGD ID:6798787
Promoter ID:HG_KWN:39989
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:ENST00000371101,   OTTHUMT00000080419,   OTTHUMT00000080420,   OTTHUMT00000080421,   OTTHUMT00000080422,   OTTHUMT00000080424,   OTTHUMT00000080427,   OTTHUMT00000080456,   OTTHUMT00000080462,   OTTHUMT00000267989,   OTTHUMT00000267990,   OTTHUMT00000267991,   OTTHUMT00000267992,   UC002XZX.1,   UC002XZY.1,   UC010GJR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,897,151 - 56,897,747 (+)MPROMDB
RGD ID:6798791
Promoter ID:HG_KWN:39991
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000267993
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,898,316 - 56,899,227 (+)MPROMDB
RGD ID:6798801
Promoter ID:HG_KWN:39992
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000306082,   ENST00000338783,   ENST00000349036,   ENST00000354359,   ENST00000371081,   ENST00000371082,   ENST00000371095,   OTTHUMT00000080429,   OTTHUMT00000080431,   OTTHUMT00000080433,   OTTHUMT00000080437,   OTTHUMT00000080444,   OTTHUMT00000080445,   OTTHUMT00000080446,   UC002YAB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,898,966 - 56,900,612 (+)MPROMDB
RGD ID:6798790
Promoter ID:HG_KWN:39993
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000080435,   OTTHUMT00000080463,   UC002YAC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,903,496 - 56,904,107 (+)MPROMDB
RGD ID:6798792
Promoter ID:HG_KWN:39994
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002YAD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,905,096 - 56,907,322 (+)MPROMDB
RGD ID:6798795
Promoter ID:HG_KWN:39996
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000080458,   OTTHUMT00000080459,   OTTHUMT00000267994,   UC002YAE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,910,576 - 56,912,227 (+)MPROMDB
RGD ID:6798789
Promoter ID:HG_KWN:39997
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000080461
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,916,376 - 56,917,627 (+)MPROMDB
RGD ID:6798788
Promoter ID:HG_KWN:39998
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000080460
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,917,996 - 56,918,922 (+)MPROMDB
RGD ID:13602252
Promoter ID:EPDNEW_H27309
Type:initiation region
Name:GNAS_3
Description:GNAS complex locus
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27310  EPDNEW_H27311  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,839,748 - 58,839,808EPDNEW
RGD ID:13602250
Promoter ID:EPDNEW_H27310
Type:initiation region
Name:GNAS_2
Description:GNAS complex locus
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27309  EPDNEW_H27311  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,889,180 - 58,889,240EPDNEW
RGD ID:13602254
Promoter ID:EPDNEW_H27311
Type:initiation region
Name:GNAS_1
Description:GNAS complex locus
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27310  EPDNEW_H27309  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,891,421 - 58,891,481EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4392 AgrOrtholog
COSMIC GNAS COSMIC
Ensembl Genes ENSG00000087460 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265620 ENTREZGENE
  ENST00000265620.11 UniProtKB/Swiss-Prot
  ENST00000306090 ENTREZGENE
  ENST00000306120 ENTREZGENE
  ENST00000313949.11 UniProtKB/Swiss-Prot
  ENST00000349036 ENTREZGENE
  ENST00000354359 ENTREZGENE
  ENST00000354359.12 UniProtKB/Swiss-Prot
  ENST00000371075 ENTREZGENE
  ENST00000371075.7 UniProtKB/Swiss-Prot
  ENST00000371081 ENTREZGENE
  ENST00000371085 ENTREZGENE
  ENST00000371085.8 UniProtKB/Swiss-Prot
  ENST00000371095 ENTREZGENE
  ENST00000371095.7 UniProtKB/Swiss-Prot
  ENST00000371098.6 UniProtKB/Swiss-Prot
  ENST00000371100 ENTREZGENE
  ENST00000371100.9 UniProtKB/Swiss-Prot
  ENST00000371102 ENTREZGENE
  ENST00000371102.8 UniProtKB/Swiss-Prot
  ENST00000419558.7 UniProtKB/Swiss-Prot
  ENST00000453292.7 UniProtKB/Swiss-Prot
  ENST00000464960 ENTREZGENE
  ENST00000470512 ENTREZGENE
  ENST00000472183 ENTREZGENE
  ENST00000476935 ENTREZGENE
  ENST00000477931 ENTREZGENE
  ENST00000478585 ENTREZGENE
  ENST00000480975 ENTREZGENE
  ENST00000481768.6 UniProtKB/Swiss-Prot
  ENST00000482112 ENTREZGENE
  ENST00000488652 ENTREZGENE
  ENST00000492907 ENTREZGENE
  ENST00000604005 ENTREZGENE
  ENST00000663479 ENTREZGENE
  ENST00000676826 ENTREZGENE
Gene3D-CATH 1.10.400.10 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
GTEx ENSG00000087460 GTEx
HGNC ID HGNC:4392 ENTREZGENE
Human Proteome Map GNAS Human Proteome Map
InterPro Gprotein_alpha_S UniProtKB/Swiss-Prot
  Gprotein_alpha_su UniProtKB/Swiss-Prot
  GproteinA_insert UniProtKB/Swiss-Prot
  NESP55 UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:2778 UniProtKB/Swiss-Prot
NCBI Gene 2778 ENTREZGENE
OMIM 139320 OMIM
PANTHER GUANINE NUCLEOTIDE-BINDING PROTEIN G(S) SUBUNIT ALPHA UniProtKB/Swiss-Prot
  GUANINE NUCLEOTIDE-BINDING PROTEIN G(S) SUBUNIT ALPHA ISOFORMS XLAS UniProtKB/Swiss-Prot
  PTHR10218 UniProtKB/Swiss-Prot
Pfam G-alpha UniProtKB/Swiss-Prot
  NESP55 UniProtKB/Swiss-Prot
PharmGKB GNAS RGD, PharmGKB
PRINTS GPROTEINA UniProtKB/Swiss-Prot
  GPROTEINAS UniProtKB/Swiss-Prot
PROSITE G_ALPHA UniProtKB/Swiss-Prot
SMART G_alpha UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47895 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot
UniProt A0A0A0MR13 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3H8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3S5 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJ22 ENTREZGENE
  A0A590UJ46_HUMAN UniProtKB/TrEMBL
  A0A590UJ47_HUMAN UniProtKB/TrEMBL
  A0A590UJ58 ENTREZGENE
  A0A590UJA5 ENTREZGENE
  A0A590UJB0 ENTREZGENE
  A0A590UJB7 ENTREZGENE
  A0A590UJC9_HUMAN UniProtKB/TrEMBL
  A0A590UJF0 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJG5 ENTREZGENE
  A0A590UJI6 ENTREZGENE
  A0A590UJJ0 ENTREZGENE
  A0A590UJQ2 ENTREZGENE
  A0A590UJQ9 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJR6 ENTREZGENE
  A0A590UJS2_HUMAN UniProtKB/TrEMBL
  A0A590UJX3_HUMAN UniProtKB/TrEMBL
  A0A590UJX6_HUMAN UniProtKB/TrEMBL
  A0A590UJY2_HUMAN UniProtKB/TrEMBL
  A0A590UJY8 ENTREZGENE
  A0A590UK00_HUMAN UniProtKB/TrEMBL
  A0A590UK28 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UKA1 ENTREZGENE
  A0A590UKA4 ENTREZGENE
  A0A590UKA9 ENTREZGENE
  A0A590UKB4 ENTREZGENE
  A0A7I2V5R6 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIH4_HUMAN UniProtKB/TrEMBL
  A0A8I5F5B5 ENTREZGENE, UniProtKB/TrEMBL
  A0A9K3Y787 ENTREZGENE
  A2A2R6 ENTREZGENE, UniProtKB/TrEMBL
  A2A2S1_HUMAN UniProtKB/TrEMBL
  A2A2S3 ENTREZGENE
  A2A2S4 ENTREZGENE
  A6NI00 ENTREZGENE
  ALEX_HUMAN UniProtKB/Swiss-Prot
  B0AZR9 ENTREZGENE, UniProtKB/TrEMBL
  B2RB88 ENTREZGENE
  E1P5G2 ENTREZGENE
  E1P5G3 ENTREZGENE
  E1P5G5 ENTREZGENE
  GNAS1_HUMAN UniProtKB/Swiss-Prot
  GNAS2_HUMAN UniProtKB/Swiss-Prot
  GNAS3_HUMAN UniProtKB/Swiss-Prot
  H0Y7E8_HUMAN UniProtKB/TrEMBL
  H0Y7Z6_HUMAN UniProtKB/TrEMBL
  O75684 ENTREZGENE
  O75685 ENTREZGENE
  O95417 ENTREZGENE
  O95467 ENTREZGENE
  P04895 ENTREZGENE
  P63092 ENTREZGENE
  P84996 ENTREZGENE
  Q12927 ENTREZGENE
  Q14433 ENTREZGENE
  Q14455_HUMAN UniProtKB/TrEMBL
  Q32P26 ENTREZGENE
  Q5FWY2 ENTREZGENE, UniProtKB/TrEMBL
  Q5JW67 ENTREZGENE
  Q5JWD1 ENTREZGENE, UniProtKB/TrEMBL
  Q5JWD2 ENTREZGENE
  Q5JWD4 ENTREZGENE
  Q5JWD5 ENTREZGENE
  Q5JWE9 ENTREZGENE, UniProtKB/TrEMBL
  Q5JWF1 ENTREZGENE
  Q5JWF2 ENTREZGENE
  Q6NR75 ENTREZGENE
  Q6NXS0 ENTREZGENE
  Q8TBC0 ENTREZGENE
  Q96H70 ENTREZGENE
  Q9NY42 ENTREZGENE
  S4R3E3 ENTREZGENE
  S4R3V9 ENTREZGENE
UniProt Secondary A2A2S3 UniProtKB/Swiss-Prot
  A2A2S4 UniProtKB/Swiss-Prot
  A6NI00 UniProtKB/Swiss-Prot
  B2RB88 UniProtKB/Swiss-Prot
  E1P5G2 UniProtKB/Swiss-Prot
  E1P5G3 UniProtKB/Swiss-Prot
  E1P5G5 UniProtKB/Swiss-Prot
  O75684 UniProtKB/Swiss-Prot
  O75685 UniProtKB/Swiss-Prot
  O95417 UniProtKB/Swiss-Prot
  P04895 UniProtKB/Swiss-Prot
  Q12927 UniProtKB/Swiss-Prot
  Q14433 UniProtKB/Swiss-Prot
  Q32P26 UniProtKB/Swiss-Prot
  Q5JW67 UniProtKB/Swiss-Prot
  Q5JWD2 UniProtKB/Swiss-Prot
  Q5JWD4 UniProtKB/Swiss-Prot
  Q5JWD5 UniProtKB/Swiss-Prot
  Q5JWF1 UniProtKB/Swiss-Prot
  Q6NR75 UniProtKB/Swiss-Prot
  Q6NXS0 UniProtKB/Swiss-Prot
  Q8TBC0 UniProtKB/Swiss-Prot
  Q96H70 UniProtKB/Swiss-Prot
  Q9NY42 UniProtKB/Swiss-Prot