ClinVar Miner

Variants in gene GNAS

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
67 22 41 33 23 27 195

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 17 8 22 31 19 0 95
not specified 1 1 6 1 3 27 39
Pseudohypoparathyroidism 22 2 2 0 1 0 26
Pseudopseudohypoparathyroidism 12 2 1 0 0 0 15
McCune-Albright syndrome 9 1 1 0 1 0 12
Inborn genetic diseases 2 2 2 0 0 0 6
Pseudohypoparathyroidism type 1B 5 0 1 0 0 0 6
Neoplasm 0 4 0 0 0 0 4
PITUITARY ADENOMA 3, MULTIPLE TYPES 4 0 0 0 0 0 4
Progressive osseous heteroplasia 4 0 0 0 0 0 4
Pseudohypoparathyroidism type 1C 4 0 0 0 0 0 4
Adenocarcinoma of stomach 0 3 0 0 0 0 3
Adrenocortical carcinoma 0 3 0 0 0 0 3
Cushing's syndrome 3 0 0 0 0 0 3
Hepatocellular carcinoma 0 3 0 0 0 0 3
Lung adenocarcinoma 0 3 0 0 0 0 3
Malignant melanoma of skin 0 3 0 0 0 0 3
Neoplasm of the breast 0 3 0 0 0 0 3
Neoplasm of the large intestine 0 3 0 0 0 0 3
Pancreatic adenocarcinoma 0 3 0 0 0 0 3
Squamous cell carcinoma of the head and neck 0 3 0 0 0 0 3
Uterine cervical neoplasms 0 3 0 0 0 0 3
Cushing's syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; PITUITARY ADENOMA 3, MULTIPLE TYPES 2 0 0 0 0 0 2
Cushing's syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia 0 0 2 0 0 0 2
Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism 1 1 0 0 0 0 2
Sex cord-stromal tumor 2 0 0 0 0 0 2
Disorder of endocrine system 1 0 0 0 0 0 1
Fractures of the long bones 0 0 1 0 0 0 1
GNAS-related disorder 1 0 0 0 0 0 1
Global developmental delay; Large for gestational age 0 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Macrocephalus; Arteriovenous fistula; Thyroiditis; Papule 0 0 0 1 0 0 1
Neuropsychiatric disorder 0 0 1 0 0 0 1
Obesity; Brachydactyly; Short stature; Cognitive impairment; Hypocalcemia; Round face; Tetany; Subcutaneous nodule 1 0 0 0 0 0 1
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC 1 0 0 0 0 0 1
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS 1 0 0 0 0 0 1
Polyostotic fibrous dysplasia, somatic, mosaic 1 0 0 0 0 0 1
Prolonged bleeding time, brachydactyly, and mental retardation 0 0 1 0 0 0 1
Pseudohypoparathyroidism; Global developmental delay; Subcutaneous calcification 1 0 0 0 0 0 1
Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C 0 1 0 0 0 0 1
See cases 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 1 0 30 17 0 49
OMIM 37 0 1 0 0 0 38
ITMI 0 0 0 0 0 27 27
GeneDx 11 6 5 0 0 0 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 12 1 2 0 17
GeneReviews 12 0 0 0 0 0 12
Johns Hopkins Genomics,Johns Hopkins University 4 0 3 0 1 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 3 1 0 0 7
Ambry Genetics 2 2 2 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 2 1 0 0 6
Genetic Services Laboratory,University of Chicago 0 0 3 0 1 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 1 1 0 4
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 4
Gharavi Laboratory,Columbia University 0 1 3 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 1 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Mendelics 0 0 1 0 1 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
ISCA site 2 0 0 0 0 1 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1

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