ClinVar Miner

Variants in gene RPGR

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Gene type:

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 not provided total
601 379 645 447 144 259 2047

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary ciliary dyskinesia 367 21 462 347 81 0 1244
not provided 142 92 87 127 85 102 564
Retinal dystrophy 139 91 84 3 10 0 312
RPGR-related retinopathy 115 47 25 19 58 0 263
Retinitis pigmentosa 3 115 106 30 0 3 0 243
Retinitis pigmentosa 73 50 1 2 0 0 122
Nonpapillary renal cell carcinoma 0 0 0 0 0 78 78
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 71 71
not specified 0 0 15 17 35 0 62
RPGR-related disorder 9 4 7 17 0 0 37
X-linked cone-rod dystrophy 1 16 10 3 0 3 0 32
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 4 7 6 4 2 0 23
Macular degeneration, X-linked atrophic 2 2 1 1 3 0 9
X-linked cone-rod dystrophy 4 4 1 0 0 0 9
Retinal disorder 3 2 0 0 0 0 5
Optic atrophy 0 0 3 0 1 0 4
See cases 4 0 0 0 0 0 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 2 1 0 0 0 0 3
X-linked RPGR-related disorders 0 3 0 0 0 0 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Cone dystrophy 2 0 0 0 0 0 2
Cone-rod dystrophy 1 1 0 0 0 0 2
Macular dystrophy 0 1 1 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS 2 0 0 0 0 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Cone dystrophy 1, X-linked 1 0 0 0 0 0 1
Congenital stationary night blindness 0 1 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
High myopia, early-onset 1 0 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
Leber congenital amaurosis 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Myopia 25, autosomal dominant 1 0 0 0 0 0 1
Retinitis pigmentosa 40 1 0 0 0 0 0 1
Retinitis pigmentosa 6 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 366 20 429 323 80 0 1218
PreventionGenetics, part of Exact Sciences 75 60 46 70 51 0 302
ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel, ClinGen 114 45 20 19 58 0 256
Blueprint Genetics 69 72 24 0 0 0 161
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 99 16 44 1 1 0 161
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 159 159
GeneDx 41 6 16 31 59 0 153
CeGaT Center for Human Genetics Tuebingen 39 23 18 50 3 0 133
Ambry Genetics 4 1 44 41 17 0 107
Retina International 0 0 0 0 0 101 101
Dept Of Ophthalmology, Nagoya University 2 24 23 2 10 0 61
Breakthrough Genomics, Breakthrough Genomics 0 0 2 18 40 0 60
3billion 17 31 6 0 0 0 54
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 37 5 0 0 0 0 42
Molecular Genetics Laboratory, Institute for Ophthalmic Research 36 0 0 0 0 0 36
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 22 4 0 0 0 32
Eurofins Ntd Llc (ga) 6 1 7 2 11 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 2 21 0 25
Mendelics 14 6 3 2 0 0 25
OMIM 25 0 0 0 0 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 9 4 9 0 23
DBGen Ocular Genomics 10 2 7 0 0 0 19
Sharon lab, Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
Fulgent Genetics, Fulgent Genetics 3 4 3 4 2 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 5 0 1 8 0 0 14
Clinical Genetics, Academic Medical Center 4 1 1 3 5 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 2 10 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 10 1 1 1 0 0 13
NIHR Bioresource Rare Diseases, University of Cambridge 3 10 0 0 0 0 13
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 7 1 0 0 0 12
Institute of Medical Molecular Genetics, University of Zurich 8 4 0 0 0 0 12
Baylor Genetics 6 3 1 0 0 0 10
Genetic Eye Disease Investigation Unit, University of Auckland 4 4 1 0 0 0 9
Ocular Genomics Institute, Massachusetts Eye and Ear 2 5 2 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 6 2 0 8
Department of Ophthalmology and Visual Sciences Kyoto University 0 5 0 3 0 0 8
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 5 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 5 0 6
Centre of Medical Genetics, University Hospital Muenster 6 0 0 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 1 2 2 0 6
SingHealth Duke-NUS Institute of Precision Medicine 1 5 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 2 0 0 0 5
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 3 2 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 4 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 1 2 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
MGZ Medical Genetics Center 2 2 0 0 0 0 4
Revvity Omics, Revvity 0 1 3 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Variantyx, Inc. 0 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 1 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Dasa 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 2 0 0 0 0 2
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 2 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 2
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 1
Chongqing Key Laboratory of Prevention and Treatment of Major Blinding Diseases, The First Affiliated Hospital of Chongqing Medical University 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 1
Edmonton Ocular Genetics, Alberta Health Services 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Medical Genetics, Faculty of Medicine, Dokuz Eylül University 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Ningxia Clinical Research Institute, People's Hospital of Ningxia Hui Autonomous Region 1 0 0 0 0 0 1
Northern Molecular Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Ophthalmic Genetics and Bioinformatics Laboratory, Shanghai Puxi and Light Genomics Technology Co., Ltd. 1 0 0 0 0 0 1
Personalis, Inc. 1 0 0 0 0 0 1
Rui Chen Lab, Baylor College of Medicine 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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