ClinVar Miner

Variants studied for Joubert syndrome and related disorders

Included ClinVar conditions (63):
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
508 115 990 273 279 2019

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CPLANE1 65 11 118 40 36 227
CEP290 64 12 109 26 29 221
CC2D2A 47 6 86 20 8 157
AHI1 48 7 50 22 23 139
RPGRIP1L 26 6 72 14 12 123
TMEM67 47 13 47 3 7 109
INPP5E 18 3 40 23 20 92
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
ARL13B 7 1 40 9 3 58
TCTN2 13 0 31 7 14 58
TMEM216 5 12 30 4 5 53
KIAA0586 20 3 7 4 17 51
ZNF423 1 0 11 11 25 46
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 6 1 5 6 7 25
CEP104 6 1 4 0 9 20
B9D1 5 1 4 2 3 14
ARMC9 9 1 2 0 0 12
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
IFT140 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
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
RCOR1 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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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 21 226 117 241 738
UW Hindbrain Malformation Research Program,University of Washington 265 13 0 0 0 278
OMIM 143 0 4 0 0 147
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 8 20
Genomic Research Center,Shahid Beheshti University of Medical Sciences 6 3 8 2 0 19
Broad Institute Rare Disease Group,Broad Institute 2 8 9 0 0 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 0 0 0 0 12
GeneReviews 10 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 8 9
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 5 0 0 0 8
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
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
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
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
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
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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 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
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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