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
104 71 744 298 47 1 1 1 1183

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 34 22 541 228 19 0 0 0 844
not provided 31 26 77 43 13 0 0 1 184
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 5 4 87 14 0 0 0 0 110
Inborn genetic diseases 3 2 42 40 10 0 0 0 97
Hypocalciuric hypercalcemia, familial, type 1 22 3 46 10 13 0 0 0 92
Hypocalcemia, autosomal dominant 1 25 3 43 9 11 0 0 0 91
Neonatal severe hyperparathyroidism 12 0 40 8 15 0 0 0 75
Familial isolated hypoparathyroidism 0 1 28 9 26 0 0 0 64
not specified 0 0 28 15 16 0 0 0 55
Familial hypocalciuric hypercalcemia 1 18 0 5 2 0 0 0 26
Hypocalcemia, autosomal dominant 1, with bartter syndrome 4 0 0 0 0 0 0 0 4
Hypocalcemia 0 0 0 2 1 0 0 0 3
Epilepsy, idiopathic generalized 8 0 0 0 0 0 0 1 0 1
Familial hypokalemia-hypomagnesemia; Bartter syndrome 0 0 1 0 0 0 0 0 1
Global developmental delay; Seizures; Brachycephaly; Generalized hypotonia; Chorea 0 0 1 0 0 0 0 0 1
Hypocalciuric hypercalcemia, familial, type 1; Neonatal severe hyperparathyroidism; Epilepsy, idiopathic generalized 8; Hypocalcemia, autosomal dominant 1 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 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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 39 26 627 267 19 0 0 0 978
Ambry Genetics 3 2 42 40 10 0 0 0 97
Athena Diagnostics Inc 11 11 38 1 16 0 0 0 77
GeneDx 22 12 22 5 5 0 0 0 66
Illumina Clinical Services Laboratory,Illumina 0 0 39 14 26 0 0 0 62
OMIM 50 0 0 0 0 1 1 0 52
Integrated Genetics/Laboratory Corporation of America 2 19 9 5 1 0 0 0 36
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 18 2 11 0 0 0 32
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 15 0 0 0 0 0 15
PreventionGenetics, PreventionGenetics 0 0 0 7 6 0 0 0 13
Mendelics 0 2 2 1 3 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 2 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 3 1 0 0 0 0 6
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 0 2 0 0 0 0 0 4
Institute of Human Genetics,Cologne University 0 0 4 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 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
Baylor Genetics 0 0 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare 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
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 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
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,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 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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1

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