ClinVar Miner

Variants studied for Joubert syndrome

Coded as:
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
64 19 694 160 68 985

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CPLANE1 0 1 87 28 1 117
AHI1 8 2 44 22 23 92
INPP5E 15 2 39 23 20 88
CEP290 2 0 68 7 4 81
TTC21B 0 0 59 14 5 78
CEP41 0 0 60 10 4 74
RPGRIP1L 2 2 59 9 0 71
CC2D2A 3 0 58 7 1 69
TMEM237 1 0 46 5 0 52
TCTN2 8 0 26 6 1 41
ARL13B 0 0 31 6 0 37
TMEM67 0 1 28 1 2 32
TMEM216 1 0 21 3 5 29
NPHP1 0 0 20 3 1 24
TMEM138 0 0 20 1 0 21
TCTN1 0 0 13 5 0 18
MKS1 13 3 0 0 0 16
ATP6V0A2, TCTN2 0 0 1 6 1 8
CYB561A3, TMEM138 0 0 6 1 0 7
C12orf29, CEP290 0 0 4 1 0 5
B9D2 3 1 0 0 0 4
B9D1 3 0 0 0 0 3
C2CD3 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
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
RCOR1 0 1 0 0 0 1
TMEM231 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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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 16 7 15 22 34 94
UW Hindbrain Malformation Research Program,University of Washington 42 4 0 0 0 46
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
OMIM 0 0 2 0 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 2 0 0 0 2
GeneReviews 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

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