ClinVar Miner

Variants studied for Joubert syndrome

Included ClinVar conditions (57):
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
495 110 975 262 254 1952

Gene and significance breakdown #

Total genes and gene combinations: 49
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CPLANE1 66 11 118 40 36 228
CEP290 63 12 109 26 29 220
CC2D2A 45 6 86 20 8 155
AHI1 48 7 49 22 23 138
RPGRIP1L 26 6 72 14 12 123
TMEM67 45 12 46 3 7 105
INPP5E 18 2 40 23 20 91
CEP41 4 0 64 13 6 85
MKS1 19 23 37 7 3 84
TTC21B 0 0 59 14 5 78
OFD1 21 2 19 7 22 71
TMEM237 5 2 49 6 3 62
TCTN2 13 0 31 7 14 58
ARL13B 7 0 40 9 3 57
TMEM216 5 12 30 4 5 53
KIAA0586 17 3 7 4 17 48
CSPP1 24 1 9 2 4 40
TCTN1 4 0 21 13 7 38
TMEM138 5 0 24 1 1 29
NPHP1 1 0 22 3 1 27
TMEM231 5 1 5 6 7 24
CEP104 6 1 4 0 9 20
B9D1 5 0 4 2 3 13
ARMC9 9 1 0 0 0 10
TCTN3 2 0 2 3 3 10
ATP6V0A2, TCTN2 0 0 1 6 2 9
ARFGEF1, CSPP1 2 0 2 1 3 8
B9D2 3 1 2 1 1 8
PIBF1 6 2 1 0 0 8
C12orf29, CEP290 0 0 6 1 0 7
CYB561A3, TMEM138 0 0 6 1 0 7
SUFU 2 0 5 0 0 7
CEP120 5 0 0 0 0 5
C2CD3 3 0 0 0 0 3
KIAA0753 3 0 0 0 0 3
PDE6D 1 1 0 1 0 3
CLUAP1 0 2 0 0 0 2
CPLANE1, LOC105374727 0 0 1 1 0 2
KIAA0556 2 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
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
RCOR1 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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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 133 21 215 109 216 694
UW Hindbrain Malformation Research Program,University of Washington 265 13 0 0 0 278
OMIM 132 0 4 0 0 136
Fulgent Genetics 20 5 54 0 0 79
Counsyl 2 30 32 5 0 69
Genetic Services Laboratory, University of Chicago 14 6 6 0 0 26
Broad Institute Rare Disease Group,Broad Institute 2 8 9 0 0 19
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 3 8 2 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 9 8 17
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 0 0 0 0 14
GeneReviews 10 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 8 9
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 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
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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 3 0 0 0 0 3
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 3 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 1 0 1 0 0 2
Biesecker Lab/Human Development 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
Mendelics 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 2
Universitätsklinikum Salzburg,Universitätskinderklinik 1 1 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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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