ClinVar Miner

Variants studied for Joubert syndrome

Included ClinVar conditions (62):
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 total
916 267 2791 1135 466 5234

Gene and significance breakdown #

Total genes and gene combinations: 78
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 213 41 381 271 43 903
RPGRIP1L 88 25 291 151 29 540
CC2D2A 73 19 284 96 28 455
AHI1 77 18 232 78 37 415
CPLANE1 74 23 180 38 51 330
MKS1 41 33 117 95 8 281
INPP5E 26 6 172 56 33 274
CEP41 7 1 161 35 20 219
CSPP1 35 5 126 41 10 217
TMEM237 12 5 133 42 13 196
TMEM67 53 17 91 21 17 182
KIAA0586 30 8 52 23 26 137
OFD1 29 3 45 16 25 116
ARL13B 10 3 67 25 6 105
TCTN2 17 0 66 13 20 105
TMEM216 8 15 57 26 13 105
TCTN1 10 1 47 27 10 86
TMEM231 6 2 34 21 12 73
ARFGEF1, CSPP1 4 1 38 9 5 56
NPHP1 3 0 45 4 5 56
CEP104 7 1 24 5 16 53
TMEM138 6 1 36 3 4 46
C12orf29, CEP290 12 1 20 6 1 38
TCTN3 3 1 14 11 9 38
B9D1 6 2 14 7 4 31
ARMC9 10 11 3 0 0 16
B9D2 3 1 3 2 5 14
PIBF1 9 4 4 0 0 14
TTC21B 0 0 9 1 3 13
SUFU 2 0 9 0 0 11
TOGARAM1 10 8 1 0 0 11
ATP6V0A2, TCTN2 0 0 1 2 8 10
PDE6D 2 2 2 4 1 10
CEP120 5 0 3 0 0 8
CYB561A3, TMEM138 0 0 6 1 0 7
KATNIP 2 4 1 0 0 6
CPLANE1, LOC105374727 0 0 3 1 0 4
KIAA0753 3 1 0 0 0 4
C2CD3 3 0 0 0 0 3
TMEM218 3 0 0 0 0 3
​intergenic 2 0 0 0 0 2
ARL3 2 0 0 0 0 2
CBY1 2 0 0 0 0 2
CLUAP1 0 2 0 0 0 2
FAM149B1 2 1 0 0 0 2
USH2A 0 0 2 0 0 2
ABCA4 0 0 1 0 0 1
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 1
ARL13B, DHFR2 0 0 1 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 0 1 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 1
CAV3 0 0 1 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 1
COQ8A 0 0 0 0 1 1
CRYGD, LOC100507443 0 0 0 1 0 1
EXOC8 0 0 1 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
GH-LCR, SCN4A 0 0 0 1 0 1
IFT172 1 0 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 1
KIF7 0 0 1 0 0 1
LRRC34 0 0 1 0 0 1
MICALL2 1 0 0 0 0 1
PDPR 0 0 0 1 0 1
PKD2 0 0 0 0 1 1
RCOR1 0 1 0 0 0 1
RPE65 0 0 0 0 1 1
RPGRIP1 0 0 1 0 0 1
SLC30A7 1 0 0 0 0 1
SMAD6 0 0 1 0 0 1
SOS1 0 0 0 0 1 1
TMEM17 0 0 1 0 0 1
WDPCP 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 79
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 543 102 1666 992 369 3672
Illumina Clinical Services Laboratory,Illumina 0 1 1027 134 180 1341
UW Hindbrain Malformation Research Program,University of Washington 276 13 0 0 0 289
OMIM 146 0 4 0 0 150
Natera, Inc. 5 1 99 9 18 132
Baylor Genetics 24 4 58 0 0 86
Fulgent Genetics,Fulgent Genetics 20 5 54 0 0 79
Counsyl 1 31 33 5 0 70
Mendelics 17 10 5 3 18 53
Centre for Mendelian Genomics,University Medical Centre Ljubljana 20 7 14 0 0 41
Broad Institute Rare Disease Group, Broad Institute 7 11 17 2 4 41
Genetic Services Laboratory, University of Chicago 14 6 5 0 0 25
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 2 12 2 0 22
University of Washington Center for Mendelian Genomics, University of Washington 0 18 1 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 9 8 17
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 7 6 2 0 0 15
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 2 7 4 1 0 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 6 0 0 0 10
GeneReviews 10 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 6 1 2 1 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 8 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 3 2 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 4 4 0 0 0 8
Institute of Human Genetics, Klinikum rechts der Isar 5 2 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 3 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 6 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 6
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 2 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 2 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 2 0 2 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 1 0 0 4
Rare Disease Group, Clinical Genetics,Karolinska Institutet 3 1 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 3 0 0 4
New York Genome Center 0 2 2 0 0 4
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 3 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 3
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 2 0 0 0 3
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 3 0 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 1 0 1 1 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 2
Universitätsklinikum Salzburg,Universitätskinderklinik 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 2
Ege University Pediatric Genetics,Ege University 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 2
Institute of Human Genetics,Heidelberg University 2 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 1

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