ClinVar Miner

Variants in gene LRP5

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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 affects not provided total
56 37 335 187 54 1 9 623

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
not provided 18 19 318 167 46 0 1 548
not specified 0 1 1 23 23 0 0 47
Osteoporosis with pseudoglioma 19 6 3 1 1 0 1 29
Exudative vitreoretinopathy 4 2 2 6 0 0 0 0 10
Retinal dystrophy 2 3 5 0 0 0 0 10
Inborn genetic diseases 5 0 2 0 0 0 0 7
Polycystic liver disease 4 with or without kidney cysts 3 0 3 0 0 0 0 6
Autosomal dominant osteopetrosis 1 4 0 1 0 0 0 0 5
Exudative vitreoretinopathy 4, autosomal recessive 5 0 0 0 0 0 0 5
Polycystic kidney disease, adult type 0 0 0 0 0 0 4 4
Polycystic liver disease 1 0 0 0 0 0 0 4 4
Bone mineral density quantitative trait locus 1 0 1 1 0 0 1 0 3
Exudative vitreoretinopathy 4, autosomal dominant 3 0 0 0 0 0 0 3
Familial exudative vitreoretinopathy 1 2 0 0 0 0 0 3
Postmenopausal osteoporosis 0 1 1 1 0 0 0 3
Worth disease 3 0 0 0 0 0 0 3
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Postmenopausal osteoporosis; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 0 0 2 0 0 0 0 2
Exudative vitreoretinopathy 1 1 1 0 0 0 0 0 2
High bone mass 1 1 0 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 0 2
Diaphyseal dysplasia; Brachycephaly; Osteopenia; Diaphyseal sclerosis; Elevated alkaline phosphatase; Hypoplastic acetabulae; Vitamin D deficiency 0 0 1 0 0 0 0 1
Exudative vitreoretinopathy 4, digenic 1 0 0 0 0 0 0 1
Leber congenital amaurosis 0 0 1 0 0 0 0 1
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS 1 0 0 0 0 0 0 1
Vitreoretinopathy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 9 8 267 161 39 0 0 484
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 1 50 11 16 0 0 82
OMIM 37 0 0 0 0 1 0 38
GeneDx 5 3 11 16 0 0 0 35
CeGaT Praxis fuer Humangenetik Tuebingen 2 4 10 3 0 0 0 19
PreventionGenetics, PreventionGenetics 0 0 0 4 12 0 0 16
Blueprint Genetics 2 3 4 0 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 8 0 0 8
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 0 0 0 0 0 0 8 8
Ambry Genetics 5 0 2 0 0 0 0 7
Baylor Genetics 1 0 4 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 0 1 1 0 0 1 3
Mendelics 0 1 0 1 1 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 0 3
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 2 1 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 0 2
Department of Ophthalmology,California Pacific Medical Center 1 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 1 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Center for Molecular Medicine,Karolinska Institute 0 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1

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