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
195 52 874 157 54 1319

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 54 11 115 10 5 194
CPLANE1 2 5 87 28 1 123
CC2D2A 17 2 85 9 3 115
RPGRIP1L 18 4 77 10 1 109
AHI1 13 5 48 12 6 83
INPP5E 18 3 40 16 7 82
TTC21B 0 0 60 14 7 81
CEP41 0 0 60 10 4 74
TMEM67 11 3 48 1 4 66
TMEM237 1 1 46 5 1 53
TCTN2 11 0 30 6 1 48
OFD1 14 2 22 3 4 45
MKS1 18 4 20 1 0 43
ARL13B 0 0 31 7 2 40
TMEM216 2 1 20 1 4 28
NPHP1 0 0 20 3 2 24
TCTN1 0 0 18 6 1 23
TMEM138 0 0 20 1 0 21
B9D1 4 0 4 2 0 9
C12orf29, CEP290 0 2 6 1 0 9
ATP6V0A2, TCTN2 0 0 1 6 1 8
B9D2 3 1 2 1 0 7
CYB561A3, TMEM138 0 0 6 1 0 7
KIAA0753 3 1 0 0 0 4
C2CD3 3 0 0 0 0 3
PIBF1 0 2 2 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
PDPR 0 0 0 1 0 1
RCOR1 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 1
TMEM231 0 1 0 0 0 1
WDPCP 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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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 127 24 195 16 6 368
Mendelics 15 10 4 3 15 47
UW Hindbrain Malformation Research Program,University of Washington 42 4 0 0 0 46
OMIM 4 0 2 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 3 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 2 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 1 0 4
Rare Disease Group, Clinical Genetics,Karolinska Institutet 3 1 0 0 0 4
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 3 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 1 0 1 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 0 0 1 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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