ClinVar Miner

Variants in gene GNAS

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Gene type:
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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
57 22 33 4 7 27 140

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 13 8 20 1 3 0 45
not specified 1 1 6 1 3 27 39
Pseudohypoparathyroidism 18 2 0 0 0 0 19
Pseudopseudohypoparathyroidism 12 2 1 0 0 0 15
McCune-Albright syndrome 9 1 0 0 0 0 10
Inborn genetic diseases 2 2 2 0 0 0 6
Pseudohypoparathyroidism type 1B 4 0 1 0 0 0 5
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
See cases 0 0 0 2 1 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
GNAS-related disorder 1 0 0 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; Pseudohypoparathyroidism type 1C 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 37 0 1 0 0 0 38
ITMI 0 0 0 0 0 27 27
GeneDx 10 6 5 0 0 0 21
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 12 1 2 0 17
GeneReviews 12 0 0 0 0 0 12
Ambry Genetics 2 2 2 0 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 2
ISCA site 4 0 0 0 2 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 1 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 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
Invitae 0 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 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
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

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