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
148 71 325 279 85 39 828

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 92 32 165 192 75 0 513
GNAS-related condition 8 4 114 112 4 0 242
not specified 1 1 15 1 26 27 64
McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A 5 0 9 33 2 0 49
Pseudohypoparathyroidism type I A 29 8 8 0 1 0 46
Pseudohypoparathyroidism 23 3 3 0 1 1 29
Inborn genetic diseases 9 3 12 4 0 0 28
Pseudopseudohypoparathyroidism 14 7 4 0 1 1 26
Pseudohypoparathyroidism type 1B 7 0 7 1 1 0 16
McCune-Albright syndrome 4 2 1 0 0 9 13
Pseudohypoparathyroidism type 1C 5 1 2 0 1 0 9
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism type I A 0 1 8 0 0 0 9
Progressive osseous heteroplasia 4 1 1 0 1 1 7
Duane retraction syndrome 0 0 4 0 0 0 4
Neoplasm 0 4 0 0 0 0 4
Pituitary adenoma 3, multiple types 4 0 0 0 0 0 4
Adrenal cortex carcinoma 0 3 0 0 0 0 3
Breast neoplasm 0 3 0 0 0 0 3
Cushing syndrome 3 0 0 0 0 0 3
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types 3 0 0 0 0 0 3
Disorders of GNAS Inactivation 1 2 0 0 0 0 3
Gastric adenocarcinoma 0 3 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 large intestine 0 3 0 0 0 0 3
Neoplasm of uterine cervix 0 3 0 0 0 0 3
Pancreatic adenocarcinoma 0 3 0 0 0 0 3
See cases 0 1 1 0 1 0 3
Squamous cell carcinoma of the head and neck 0 3 0 0 0 0 3
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia 0 0 2 0 0 0 2
GNAS-related disorders 1 1 0 0 0 0 2
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type I A 0 0 2 0 0 0 2
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 1 1 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
Hereditary spastic paraplegia 4 1 0 0 0 0 0 1
Intellectual disability 0 1 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 intellectual disability 0 0 1 0 0 0 1
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 1 0 0 0 0 0 1
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type I A 0 1 0 0 0 0 1
Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 69 13 71 144 40 0 337
PreventionGenetics, part of Exact Sciences 8 4 114 112 4 0 242
GeneDx 27 9 62 13 29 0 140
Fulgent Genetics, Fulgent Genetics 7 0 9 33 2 0 51
CeGaT Center for Human Genetics Tuebingen 6 3 8 15 12 0 44
OMIM 35 0 1 0 0 0 36
Clinical Genetics, Academic Medical Center 0 0 3 14 18 0 35
Ambry Genetics 9 3 12 4 0 0 28
ITMI 0 0 0 0 0 27 27
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 22 2 0 27
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 16 4 0 25
Genetics of Obesity Study, University of Cambridge 19 0 0 0 0 0 19
Eurofins Ntd Llc (ga) 2 0 12 1 2 0 17
New York Genome Center 1 1 14 0 0 0 16
Genetic Services Laboratory, University of Chicago 4 3 4 0 4 0 15
Johns Hopkins Genomics, Johns Hopkins University 6 1 6 0 1 0 14
3billion 6 4 4 0 0 0 14
GeneReviews 0 0 0 0 0 12 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 7 0 10
Baylor Genetics 4 1 2 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 6 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 1 0 0 7
Revvity Omics, Revvity 1 1 3 0 0 0 5
Mendelics 2 0 3 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 3 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 4 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 1 0 0 0 4
Illumina Laboratory Services, Illumina 2 2 0 0 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 0 4 0 0 0 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
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 1 0 0 0 0 3
Blueprint Genetics 0 0 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 1 0 0 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 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
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
DASA 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 1 0 0 0 0 0 1

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