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
164 138 1311 962 154 1 54 2499

Condition and significance breakdown #

Total conditions: 71
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
not provided 128 73 1087 917 139 0 1 2244
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 2 18 245 3 0 0 0 268
Inborn genetic diseases 6 0 191 8 0 0 0 205
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 1 0 103 91 4 0 0 199
not specified 0 1 43 49 55 0 0 134
LRP5-related disorder 2 5 36 79 4 0 0 126
Osteogenesis imperfecta 2 3 31 21 11 0 0 68
Osteoporosis with pseudoglioma 24 13 10 3 1 0 1 49
Exudative vitreoretinopathy 4 6 15 17 0 1 0 0 38
Retinal dystrophy 6 14 18 0 0 0 0 38
Autosomal dominant polycystic liver disease 0 2 7 4 0 0 0 13
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 0 0 9 1 2 0 0 12
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 11 11
Polycystic liver disease 4 with or without kidney cysts 3 1 7 0 0 0 0 11
Autosomal dominant osteopetrosis 1 5 2 3 0 0 0 0 10
Disorder of bone 1 0 0 1 8 0 0 10
Malignant tumor of esophagus 0 0 0 0 0 0 7 7
Osteoporosis 0 2 5 0 0 0 0 7
Bone mineral density quantitative trait locus 1 0 1 4 0 0 1 0 6
Familial exudative vitreoretinopathy 2 4 0 0 0 0 0 6
Acute myeloid leukemia 0 0 0 0 0 0 5 5
Exudative vitreoretinopathy 4, autosomal recessive 5 0 0 0 0 0 0 5
Gastric cancer 0 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 0 5 5
Thymoma 0 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 0 4 4
Exudative vitreoretinopathy 1 3 1 0 0 0 0 0 4
Lung cancer 0 0 0 0 0 0 4 4
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
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 4 4
Uterine carcinosarcoma 0 0 0 0 0 0 4 4
Worth disease 3 1 1 0 0 0 0 4
Clear cell carcinoma of kidney 0 0 0 0 0 0 3 3
Exudative vitreoretinopathy 4, autosomal dominant 3 0 0 0 0 0 0 3
Exudative vitreoretinopathy 4; Osteoporosis with pseudoglioma 0 3 0 0 0 0 0 3
Malignant tumor of urinary bladder 0 0 0 0 0 0 3 3
Autosomal dominant LRP5-related disorders 1 1 0 0 0 0 0 2
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
Colorectal cancer 0 0 0 0 0 0 2 2
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma 0 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 0 2 2
High bone mass 1 1 0 0 0 0 0 2
LRP5-related exudative vitreoretinopathy 0 0 1 0 0 0 1 2
LRP5-related primary osteoporosis 0 1 1 0 0 0 0 2
Microcephaly 0 0 2 0 0 0 0 2
Retinal disorder 2 0 0 0 0 0 0 2
Skeletal dysplasia 1 0 1 0 0 0 0 2
Uveal melanoma 0 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 0 1 1
Autosomal dominant polycystic kidney disease 0 0 1 0 0 0 0 1
Autosomal recessive LRP5-related disorders 0 1 0 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
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 0 1
Exudative vitreoretinopathy 4, digenic 1 0 0 0 0 0 0 1
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Autosomal dominant polycystic liver disease 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
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 0 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 1 1
Optic atrophy 0 0 1 0 0 0 0 1
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS 1 0 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Postmenopausal osteoporosis 0 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1
Severe early-childhood-onset retinal dystrophy 0 0 0 1 0 0 0 1
Vitreoretinopathy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 117 54 976 822 74 0 0 2043
Fulgent Genetics, Fulgent Genetics 3 19 347 94 4 0 0 467
GeneDx 12 8 143 75 93 0 0 331
Ambry Genetics 6 0 191 8 0 0 0 205
PreventionGenetics, part of Exact Sciences 2 5 35 83 16 0 0 141
Breakthrough Genomics, Breakthrough Genomics 0 0 8 35 50 0 0 93
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 37 24 18 0 1 84
Eurofins Ntd Llc (ga) 4 1 50 11 16 0 0 82
CeGaT Center for Human Genetics Tuebingen 2 3 28 45 3 0 0 81
Genome Diagnostics Laboratory, The Hospital for Sick Children 3 3 31 21 14 0 0 70
Mayo Clinic Laboratories, Mayo Clinic 0 1 10 9 25 0 0 45
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 40 40
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 9 14 0 0 30
Clinical Genetics, Academic Medical Center 0 0 3 8 18 0 0 29
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 4 10 13 0 0 0 0 27
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center 0 2 8 4 0 0 8 21
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 13 1 2 0 0 17
3billion 2 7 7 0 0 0 0 16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 3 10 0 0 14
Revvity Omics, Revvity 4 2 8 0 0 0 0 14
Athena Diagnostics 0 0 1 1 10 0 0 12
Genetic Services Laboratory, University of Chicago 0 0 3 7 1 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 8 2 0 0 10
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 4 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 4 1 0 0 0 7
Variantyx, Inc. 2 4 0 0 0 0 0 6
Baylor Genetics 0 1 4 0 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 4 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 4 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 0 5 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 3 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 1 0 0 5
MVZ Medizinische Genetik Mainz 0 2 2 0 0 0 0 4
Mendelics 1 1 0 1 1 0 0 4
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 1 1 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 2 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 0 3
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 2 0 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 0 0 3
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 2 0 0 0 0 2
Department of Ophthalmology, California Pacific Medical Center 1 1 0 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 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
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 1 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 0 1
Center for Molecular Medicine, Karolinska Institute 0 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 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
New York Genome Center 0 0 1 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1

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