ClinVar Miner

Variants in gene LRP5

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Minimum submission review status: Collection method:
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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 affects not provided total
132 91 989 842 147 1 11 2032

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
not provided 101 55 910 808 140 0 1 1933
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2 2 152 91 4 0 0 251
LRP5-related condition 1 2 20 58 2 0 0 83
not specified 0 1 14 25 43 0 0 72
Osteogenesis imperfecta 2 3 31 21 11 0 0 68
Inborn genetic diseases 5 0 51 3 0 0 0 59
Osteoporosis with pseudoglioma 21 11 6 1 1 0 1 38
Exudative vitreoretinopathy 4 2 8 11 0 0 0 0 21
Autosomal dominant polycystic liver disease 0 2 7 4 0 0 0 13
Increased bone mineral density 0 1 0 4 5 0 0 10
Retinal dystrophy 2 3 5 0 0 0 0 10
Polycystic liver disease 4 with or without kidney cysts 3 0 4 0 0 0 0 7
Autosomal dominant osteopetrosis 1 4 0 2 0 0 0 0 6
Bone mineral density quantitative trait locus 1 0 1 3 0 0 1 0 5
Exudative vitreoretinopathy 4, autosomal recessive 5 0 0 0 0 0 0 5
Familial exudative vitreoretinopathy 2 3 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
Worth disease 3 1 1 0 0 0 0 4
Exudative vitreoretinopathy 1 2 1 0 0 0 0 0 3
Exudative vitreoretinopathy 4, autosomal dominant 3 0 0 0 0 0 0 3
Postmenopausal osteoporosis 0 1 1 1 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 1 1 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
Osteoporosis 0 1 1 0 0 0 0 2
Autosomal dominant polycystic kidney disease 0 0 1 0 0 0 0 1
Diaphyseal dysplasia; Brachycephaly; Osteopenia; Diaphyseal sclerosis; Elevated circulating alkaline phosphatase concentration; Hypoplastic acetabulae; Decreased circulating vitamin D concentration 0 0 1 0 0 0 0 1
Exudative vitreoretinopathy 4, digenic 1 0 0 0 0 0 0 1
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma 0 0 0 0 0 0 1 1
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; LRP5-related primary osteoporosis 0 0 0 0 0 0 1 1
LRP5-related primary osteoporosis 0 0 1 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
See cases 0 0 1 0 0 0 0 1
Vitreoretinopathy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 92 43 824 719 74 0 0 1752
GeneDx 7 4 86 75 93 0 0 265
Fulgent Genetics, Fulgent Genetics 2 3 153 91 4 0 0 253
PreventionGenetics, part of Exact Sciences 1 2 20 62 14 0 0 99
Eurofins Ntd Llc (ga) 4 1 50 11 16 0 0 82
Genome Diagnostics Laboratory, The Hospital for Sick Children 2 4 31 22 11 0 0 70
Ambry Genetics 5 0 51 3 0 0 0 59
CeGaT Center for Human Genetics Tuebingen 2 3 22 25 5 0 0 57
OMIM 37 0 0 0 0 1 0 38
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 25 8 0 0 37
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 1 16 14 0 0 33
Clinical Genetics, Academic Medical Center 0 0 3 8 18 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 7 9 0 0 22
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 0 2 8 4 0 0 8 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 11 3 2 0 1 20
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 3 10 0 0 14
3billion 2 5 4 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 2 7 1 0 0 10
Revvity Omics, Revvity 4 0 6 0 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 8 2 0 0 10
Athena Diagnostics Inc 0 0 1 0 8 0 0 9
Blueprint Genetics 2 3 4 0 0 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 6 1 0 0 9
Baylor Genetics 0 1 4 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 4 0 0 5
Mendelics 1 1 0 1 1 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 4 0 0 0 0 4
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
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
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 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
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 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
Breda Genetics srl 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1

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