ClinVar Miner

Variants studied for Joubert syndrome 1

Included ClinVar conditions (12):
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
366 91 871 290 257 1852

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 123 21 203 77 43 465
RPGRIP1L 48 9 100 42 25 223
CC2D2A 30 7 118 29 26 208
INPP5E 21 3 126 21 33 191
AHI1 32 7 82 26 30 176
MKS1 28 8 71 37 8 152
OFD1 19 2 32 4 25 82
TMEM67 12 4 30 6 14 65
TCTN2 13 0 10 5 17 45
TMEM216 4 4 13 8 8 37
TCTN1 4 1 8 13 8 33
C12orf29, CEP290 7 1 12 2 1 23
B9D1 4 0 8 4 4 19
CPLANE1 5 4 5 2 0 16
B9D2 3 1 3 2 5 14
CEP41 0 0 9 3 1 13
TTC21B 0 0 9 1 3 13
ARMC9 0 10 0 0 0 10
TMEM237 1 1 5 1 1 9
CYB561A3, TMEM138 0 0 6 1 0 7
ATP6V0A2, TCTN2 0 0 1 2 2 5
ARL13B 0 0 1 1 2 4
KIAA0753 3 1 0 0 0 4
TMEM138 0 0 4 0 0 4
C2CD3 3 0 0 0 0 3
NPHP1 0 0 2 0 1 3
PIBF1 0 2 2 0 0 3
CLUAP1 0 2 0 0 0 2
USH2A 0 0 2 0 0 2
ATOH1 0 0 1 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 1
CASK 1 0 0 0 0 1
CPLANE1, LOC105374727 0 0 0 1 0 1
EXOC8 0 0 1 0 0 1
FAM149B1 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
IFT172 1 0 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 1
KATNIP 0 1 0 0 0 1
KIAA0586 1 0 0 0 0 1
KIF7 0 0 1 0 0 1
LRRC34 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
TMEM17 0 0 1 0 0 1
TMEM231 0 0 1 0 0 1
TOGARAM1 0 0 1 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
Invitae 297 54 745 265 238 1599
Illumina Clinical Services Laboratory,Illumina 0 0 115 22 27 164
Mendelics 15 9 4 3 15 46
UW Hindbrain Malformation Research Program,University of Washington 42 4 0 0 0 46
University of Washington Center for Mendelian Genomics, University of Washington 0 10 1 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 2 3 0 0 11
OMIM 4 0 2 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 3 0 0 0 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 3 1 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 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
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
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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