ClinVar Miner

Variants studied for pseudohypoparathyroidism

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
72 36 115 39 57 2 311

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GNAS 69 34 50 33 4 2 184
STX16, STX16-NPEPL1 2 0 64 6 53 0 123
GHSR 0 0 1 0 0 0 1
GNAS, LOC130066270 0 1 0 0 0 0 1
PTH1R 0 1 0 0 0 0 1
STX16 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 63 2 53 0 119
Fulgent Genetics, Fulgent Genetics 7 0 10 37 2 0 56
OMIM 29 0 0 0 0 0 29
Genetics of Obesity Study, University of Cambridge 19 0 0 0 0 0 19
Johns Hopkins Genomics, Johns Hopkins University 6 2 4 0 1 0 13
New York Genome Center 1 1 11 0 0 0 13
3billion 6 3 4 0 0 0 13
Baylor Genetics 4 1 2 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 1 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 3 0 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 6 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 3 1 0 0 0 5
Undiagnosed Diseases Network, NIH 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Division of Human Genetics, Children's Hospital of Philadelphia 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 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
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
DASA 1 0 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
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
Department of Neurology, The First Affiliated Hospital of Guangdong Pharmaceutical University 0 0 1 0 0 0 1

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