ClinVar Miner

Variants studied for Joubert syndrome and related disorders

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
546 412 2770 1359 279 8 5265

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIAA0586 83 35 586 407 56 2 1166
CSPP1 74 18 422 275 33 1 819
CEP290 83 40 252 61 21 2 449
CEP41 13 5 228 113 24 0 372
TMEM237 25 12 203 113 23 0 357
TMEM231 30 9 158 126 16 0 333
AHI1 62 36 174 40 20 0 315
RPGRIP1L 18 35 191 40 17 1 299
CC2D2A 48 18 124 11 22 0 216
ARFGEF1, CSPP1 8 5 103 66 10 0 190
NPHP1 12 39 86 16 4 0 156
TMEM138 13 3 70 42 6 0 126
TMEM67 23 14 44 23 2 0 105
MKS1 7 40 44 3 5 1 94
TMEM216 6 25 48 12 13 1 94
CPLANE1 8 11 0 0 0 0 19
LOC130059440, TMEM231 3 1 8 6 1 0 19
CEP290, RLIG1 3 6 7 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 16
ARL13B 0 9 0 0 0 0 9
INPP5E 3 6 0 0 0 0 9
CEP104 1 7 0 0 0 0 8
TCTN2 2 5 0 0 0 0 7
NPHP3, NPHP3-ACAD11 1 5 0 0 0 0 6
B9D2 1 4 0 0 0 0 5
KIF14 0 5 0 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 5
TCTN1 0 5 0 0 0 0 5
CEP290, LOC129390514 1 0 1 1 0 0 3
LOC126806306, NPHP1 1 2 0 0 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 2
B9D1 0 2 0 0 0 0 2
IFT140 2 0 0 0 0 0 2
LOC129937586, NPHP3, NPHP3-ACAD11 0 2 0 0 0 0 2
LOC130004408, TCTN3 0 2 0 0 0 0 2
TCTN3 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
CEP104, LOC126805586 0 1 0 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IFT140, LOC126862260 1 0 0 0 0 0 1
LRRCC1 0 1 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
NPHP3 0 1 0 0 0 0 1
OFD1 1 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 1
RPE65 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1
SMAD6 0 0 1 0 0 0 1
SOS1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 220 62 1593 1115 149 0 3139
Illumina Laboratory Services, Illumina 0 1 641 83 91 0 816
Fulgent Genetics, Fulgent Genetics 93 82 463 152 1 0 791
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 50 101 0 0 0 0 151
UW Hindbrain Malformation Research Program, University of Washington 132 3 0 0 0 0 135
Baylor Genetics 22 57 39 0 0 0 118
Genome-Nilou Lab 2 3 18 2 56 0 81
OMIM 71 0 1 0 0 0 72
Counsyl 1 31 33 5 0 0 70
New York Genome Center 3 2 36 0 0 0 41
Revvity Omics, Revvity 12 4 19 0 0 0 35
Natera, Inc. 1 1 19 4 7 0 32
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 4 9 0 0 0 28
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 7 9 0 3 0 21
Myriad Genetics, Inc. 1 18 0 0 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 2 6 0 0 0 17
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 4 4 0 0 0 16
3billion 8 3 3 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 4 1 0 0 12
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 2 7 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 7 2 2 0 0 0 11
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 5 5 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 6 3 0 0 0 0 9
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 2 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 3 0 0 0 0 6
Mendelics 1 2 1 0 1 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 3 0 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 5
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 5 0 0 0 5
Suma Genomics 3 1 1 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 2 0 5
GeneReviews 0 0 0 0 0 4 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 1 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 3 0 0 0 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 2 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 0 2 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 1 0 0 0 3
Genomics England Pilot Project, Genomics England 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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