ClinVar Miner

Variants in gene CASR

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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 association risk factor not provided total
186 125 1511 848 57 1 1 6 2565

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 109 32 1225 682 26 0 0 0 2074
Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 7 3 447 466 13 0 0 0 936
not provided 54 50 147 14 22 0 0 1 271
not specified 0 0 95 30 18 0 0 0 135
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 9 6 74 26 0 0 0 0 115
Familial hypocalciuric hypercalcemia 1 27 7 50 10 17 0 0 1 109
Autosomal dominant hypocalcemia 1 26 8 47 9 15 0 0 0 103
Neonatal severe primary hyperparathyroidism 13 5 42 8 19 0 0 0 86
Familial hypoparathyroidism 0 1 27 9 26 0 0 0 63
Familial hypocalciuric hypercalcemia 13 34 0 5 2 0 0 0 54
CASR-related condition 4 8 14 0 0 0 0 0 26
Hereditary cancer-predisposing syndrome 0 0 3 9 2 0 0 0 14
Inborn genetic diseases 2 2 6 0 0 0 0 0 10
Nephrolithiasis/nephrocalcinosis 2 2 3 0 0 0 0 0 7
Bartter syndrome with hypocalcemia 4 0 0 0 0 0 0 0 4
Hypocalcemia 1 0 0 2 1 0 0 0 4
Epilepsy, idiopathic generalized, susceptibility to, 8 0 1 1 0 0 0 1 0 3
Familial hypocalciuric hypercalcemia 1; Autosomal dominant hypocalcemia 1 0 0 3 0 0 0 0 0 3
Neonatal severe primary hyperparathyroidism; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Bartter syndrome with hypocalcemia 0 0 0 0 0 0 0 3 3
Autosomal dominant hypocalcemia 2 0 0 0 0 0 0 0 2
Hypercalcemia 0 0 1 1 0 0 0 0 2
Bartter disease type 3; Familial hypoparathyroidism; Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Autosomal dominant hypocalcemia 1 0 0 0 0 0 0 0 1 1
CASR-related calcium metabolism disorders 1 0 0 0 0 0 0 0 1
Familial hypokalemia-hypomagnesemia; Bartter syndrome 0 0 1 0 0 0 0 0 1
Global developmental delay; Seizure; Brachycephaly; Generalized hypotonia; Chorea 0 0 1 0 0 0 0 0 1
Hypermagnesemia 0 0 1 0 0 0 0 0 1
Idiopathic generalized epilepsy 0 0 1 0 0 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 0 0 1
Parathyroid gland adenoma; Hypercalcemia; Hypertrophic cardiomyopathy; Hypocalciuria 0 1 0 0 0 0 0 0 1
Serum calcium level 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 109 32 1228 683 26 0 0 0 2078
Ambry Genetics 11 7 456 466 13 0 0 0 953
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 35 57 10 4 0 0 0 123
GeneDx 26 15 55 8 14 0 0 0 118
Fulgent Genetics, Fulgent Genetics 9 6 74 26 0 0 0 0 115
Athena Diagnostics Inc 20 19 57 1 17 0 0 0 114
Illumina Laboratory Services, Illumina 1 1 39 14 26 0 0 0 64
OMIM 50 0 0 0 0 1 1 0 52
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 8 4 19 11 3 0 0 0 45
Preventiongenetics, part of Exact Sciences 4 8 14 7 6 0 0 0 39
Eurofins Ntd Llc (ga) 1 0 18 2 11 0 0 0 32
CeGaT Center for Human Genetics Tuebingen 5 3 4 7 1 0 0 0 20
Genetic Services Laboratory, University of Chicago 2 6 4 3 0 0 0 0 15
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 15 0 0 0 0 0 15
Sema4, Sema4 0 0 3 9 2 0 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 5 2 7 0 0 0 0 0 14
Revvity Omics, Revvity Omics 1 1 11 0 0 0 0 0 13
Mendelics 2 2 4 1 3 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 2 4 4 1 0 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 5 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 1 3 0 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 6 0 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 2 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 4 0 0 0 6
Institute of Human Genetics, Cologne University 1 0 4 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 2 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 2 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 0 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 4 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 2 0 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 2 1 0 0 0 0 0 3
Center for Bone Health, The Children's Hospital of Philadelphia 3 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 1 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 0 0 1

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