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
170 98 543 370 84 39 1156

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 107 41 211 241 75 0 621
GNAS-related disorder 14 11 274 178 4 0 481
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 8 2 29 33 3 0 75
not specified 1 1 20 4 27 27 73
Pseudohypoparathyroidism type I A 34 19 9 0 1 0 62
Inborn genetic diseases 11 3 15 7 0 0 36
Pseudopseudohypoparathyroidism 16 8 11 0 1 1 36
Pseudohypoparathyroidism 23 3 3 0 1 1 29
Pseudohypoparathyroidism type 1B 8 2 11 1 1 0 22
McCune-Albright syndrome 4 2 4 0 0 9 16
Pseudohypoparathyroidism type 1C 5 1 3 0 1 0 10
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism type I A 0 1 8 0 0 0 9
Progressive osseous heteroplasia 5 1 1 0 1 1 8
Duane retraction syndrome 0 0 4 0 0 0 4
Pituitary adenoma 3, multiple types 4 0 0 0 0 0 4
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 2 2 0 0 0 4
ACTH-independent macronodular adrenal hyperplasia 1 3 0 0 0 0 0 3
Disorders of GNAS Inactivation 1 2 0 0 0 0 3
See cases 0 1 1 0 1 0 3
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis 0 1 1 0 0 0 2
Cushing 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 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 type 1C; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type I A 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-AS1-related condition 0 0 1 0 0 0 1
GNAS-associated disease 0 1 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
PHP Type 1a / PPHP 0 1 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
Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PreventionGenetics, part of Exact Sciences 12 10 275 178 4 0 479
Labcorp Genetics (formerly Invitae), Labcorp 85 13 89 171 41 0 399
GeneDx 33 14 87 13 29 0 176
CeGaT Center for Human Genetics Tuebingen 6 4 16 41 12 0 79
Fulgent Genetics, Fulgent Genetics 9 2 23 33 2 0 69
Breakthrough Genomics, Breakthrough Genomics 0 0 0 13 34 0 47
OMIM 35 0 1 0 0 0 36
Ambry Genetics 11 3 15 7 0 0 36
Clinical Genetics, Academic Medical Center 0 0 3 14 18 0 35
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
3billion 6 4 6 0 0 0 16
Genetic Services Laboratory, University of Chicago 4 3 4 0 4 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 10 3 0 0 14
Johns Hopkins Genomics, Johns Hopkins University 6 1 6 0 1 0 14
GeneReviews 0 0 0 0 0 12 12
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 9 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 7 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 4 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 0 1 0 9
Baylor Genetics 4 1 2 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 1 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 2 0 0 0 5
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 3 1 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
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
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University 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
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 2 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 1 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
NHS Central & South Genomic Laboratory Hub 0 1 1 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
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
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 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
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 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
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 1 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 0 1

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