ClinVar Miner

Variants studied for Joubert syndrome 1

Included ClinVar conditions (10):
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
144 30 829 221 167 1321

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 30 6 105 26 29 177
CPLANE1 0 1 87 28 1 117
CC2D2A 11 0 78 20 8 110
RPGRIP1L 10 2 70 14 12 102
AHI1 8 2 44 22 23 92
INPP5E 18 2 40 23 20 91
TTC21B 0 0 59 14 5 78
CEP41 0 0 60 10 4 74
OFD1 14 2 19 7 22 64
TMEM67 7 4 41 3 7 58
TCTN2 11 0 30 7 14 56
TMEM237 1 0 46 5 0 52
MKS1 17 3 17 3 3 43
ARL13B 0 0 31 6 0 37
TCTN1 0 0 17 13 7 30
TMEM216 1 0 21 3 5 29
NPHP1 0 0 20 3 1 24
TMEM138 0 0 20 1 0 21
B9D1 3 0 4 2 3 11
ATP6V0A2, TCTN2 0 0 1 6 2 9
B9D2 3 1 2 1 1 8
CYB561A3, TMEM138 0 0 6 1 0 7
C12orf29, CEP290 0 0 5 1 0 6
C2CD3 3 0 0 0 0 3
KIAA0753 3 0 0 0 0 3
PIBF1 0 2 1 0 0 3
CLUAP1 0 2 0 0 0 2
CPLANE1, LOC105374727 0 0 1 1 0 2
USH2A 0 0 2 0 0 2
EXOC8 0 0 1 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
IFT172 1 0 0 0 0 1
KIAA0556 0 1 0 0 0 1
KIAA0586 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
TMEM231 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 675 137 36 848
Invitae 87 16 157 83 134 477
UW Hindbrain Malformation Research Program,University of Washington 42 4 0 0 0 46
OMIM 4 0 2 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 2 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 1 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 1 1 0 4
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
Biesecker Lab/Human Development Section,National Institutes of Health 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 2 0 0 0 0 2
Universitätsklinikum Salzburg,Universitätskinderklinik 1 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 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
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1

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