ClinVar Miner

Variants studied for Joubert syndrome and related disorders

Included ClinVar conditions (66):
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
555 148 1090 188 91 1996

Gene and significance breakdown #

Total genes and gene combinations: 60
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CPLANE1 70 17 122 38 13 236
CEP290 79 17 118 10 6 227
CC2D2A 50 8 96 9 3 161
AHI1 52 10 57 12 7 132
RPGRIP1L 32 8 79 10 1 129
TMEM67 48 15 55 1 4 118
CEP41 4 1 65 11 4 85
MKS1 20 24 42 5 0 84
INPP5E 18 4 40 16 7 83
TTC21B 0 0 60 14 7 81
TMEM237 8 3 50 6 3 67
ARL13B 7 1 40 9 4 59
OFD1 21 2 24 3 4 54
TCTN2 13 0 31 6 1 50
TMEM216 5 12 29 3 4 50
KIAA0586 20 4 11 0 6 40
CSPP1 25 1 11 1 1 39
ZNF423 1 2 24 6 5 37
TCTN1 5 0 22 6 1 32
TMEM138 5 0 26 1 1 31
NPHP1 1 0 22 3 2 27
TMEM231 6 1 11 2 3 23
CEP104 7 1 8 0 1 17
ARMC9 9 1 2 0 0 12
B9D1 6 1 4 2 0 12
C12orf29, CEP290 0 2 7 1 0 10
PIBF1 7 3 2 0 0 10
TCTN3 3 0 5 1 1 9
ATP6V0A2, TCTN2 0 0 1 6 1 8
SUFU 2 0 6 0 0 8
B9D2 3 1 2 1 0 7
CYB561A3, TMEM138 0 0 6 1 0 7
ARFGEF1, CSPP1 2 0 3 1 1 6
CEP120 5 0 0 0 0 5
KIAA0556 2 3 0 0 0 4
KIAA0753 3 1 0 0 0 4
C2CD3 3 0 0 0 0 3
IFT140 3 0 0 0 0 3
ARL3 2 0 0 0 0 2
CLUAP1 0 2 0 0 0 2
CPLANE1, LOC105374727 0 0 1 1 0 2
FAM149B1 2 0 0 0 0 2
PDE6D 1 1 0 0 0 2
USH2A 0 0 2 0 0 2
​intergenic 1 0 0 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 1
CAV3 0 0 1 0 0 1
EXOC8 0 0 1 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
IFT140, LOC105371046 1 0 0 0 0 1
IFT172 1 0 0 0 0 1
KIF7 0 0 1 0 0 1
LRRCC1 0 1 0 0 0 1
MICALL2 1 0 0 0 0 1
PDPR 0 0 0 1 0 1
RCOR1 0 1 0 0 0 1
RPGRIP1 0 0 1 0 0 1
SLC30A7 1 0 0 0 0 1
SMAD6 0 0 1 0 0 1
WDPCP 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 58
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 688 137 36 862
Invitae 178 29 301 28 27 562
UW Hindbrain Malformation Research Program,University of Washington 265 13 0 0 0 278
OMIM 147 0 4 0 0 151
Fulgent Genetics,Fulgent Genetics 20 5 54 0 0 79
Counsyl 2 31 33 5 0 71
Mendelics 16 11 5 3 18 53
Broad Institute Rare Disease Group,Broad Institute 7 11 14 0 0 32
Genetic Services Laboratory, University of Chicago 14 6 6 0 0 26
Genomic Research Center, Shahid Beheshti University of Medical Sciences 7 3 10 2 0 22
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 8 20
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 5 7 2 0 0 14
GeneReviews 10 0 0 0 0 10
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 5 0 1 0 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 8 9
Baylor Genetics 2 1 4 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 4 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 7 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 2 0 0 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 4 1 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 2 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 0 1 0 0 5
SIB Swiss Institute of Bioinformatics 0 1 2 0 2 5
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 4
Rare Disease Group, Clinical Genetics,Karolinska Institutet 3 1 0 0 0 4
Laboratory of Medical Genetics, INSERM 4 0 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 2 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 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
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 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
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
TIDEX, University of British Columbia 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 2 0 0 0 0 2
Institute of Human Genetics,Heidelberg University 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
University of Washington Center for Mendelian Genomics,University of Washington 0 0 1 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
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 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
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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