ClinVar Miner

Variants studied for Joubert syndrome

Included ClinVar conditions (59):
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
538 141 1066 182 86 1939

Gene and significance breakdown #

Total genes and gene combinations: 54
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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 78 17 118 10 6 226
CC2D2A 49 8 96 9 3 160
AHI1 52 10 57 12 7 132
RPGRIP1L 32 8 79 10 1 129
TMEM67 46 14 55 1 4 115
CEP41 4 1 65 11 4 85
MKS1 20 24 42 5 0 84
INPP5E 18 3 40 16 7 82
TTC21B 0 0 60 14 7 81
TMEM237 8 3 50 6 3 67
ARL13B 7 0 40 9 4 58
OFD1 21 2 24 3 4 54
TCTN2 13 0 31 6 1 50
TMEM216 5 12 29 3 4 50
CSPP1 25 1 11 1 1 39
KIAA0586 17 4 11 0 6 38
TCTN1 5 0 22 6 1 32
TMEM138 5 0 26 1 1 31
NPHP1 1 0 22 3 2 27
TMEM231 5 1 11 2 3 22
CEP104 7 1 8 0 1 17
ARMC9 9 1 2 0 0 12
B9D1 6 0 4 2 0 11
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
CLUAP1 0 2 0 0 0 2
CPLANE1, LOC105374727 0 0 1 1 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
IFT172 1 0 0 0 0 1
KIF7 0 0 1 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: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 688 137 36 862
Invitae 178 29 277 25 22 530
UW Hindbrain Malformation Research Program,University of Washington 265 13 0 0 0 278
OMIM 132 0 4 0 0 136
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 6 3 10 2 0 21
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 9 8 17
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 5 6 2 0 0 13
GeneReviews 10 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 8 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 4 0 0 0 7
Baylor Genetics 2 0 4 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 6 6
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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 1 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
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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 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
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
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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