ClinVar Miner

Variants studied for Jeune syndrome

Included ClinVar conditions (36):
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
305 141 686 209 284 1482

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC2H1 88 20 167 36 51 326
EVC 24 40 90 77 56 268
EVC2 29 46 90 14 33 184
TTC21B 10 5 73 18 24 117
IFT140 11 1 71 17 18 104
WDR19 15 1 51 7 9 78
IFT80, TRIM59-IFT80 9 1 51 6 8 68
IFT140, LOC105371046 10 2 30 9 12 54
NEK1 18 2 10 4 14 46
KIAA0586 11 3 6 4 17 41
WDR35 13 4 7 5 4 32
WDR60 7 1 5 3 12 28
WDR34 14 0 2 3 6 25
CEP120 3 1 8 2 7 21
IFT172 3 2 6 0 8 19
DYNC2LI1 10 0 1 0 0 11
EVC, EVC2 0 0 1 4 3 5
IFT81 3 3 1 0 0 5
INTU 3 3 2 0 0 5
TRAF3IP1 4 0 1 0 0 5
IFT172, KRTCAP3 1 0 1 0 2 4
IFT43 2 1 2 0 0 4
IFT52 3 0 1 0 0 4
KIAA0753 3 1 0 0 0 4
C2CD3 0 0 2 0 0 2
FUZ 1 0 1 0 0 2
IFT74 0 0 2 0 0 2
LBR 2 0 0 0 0 2
TCTEX1D2 2 0 0 0 0 2
TCTEX1D2, TM4SF19-TCTEX1D2 2 0 0 0 0 2
ABCG5, DYNC2LI1 1 0 0 0 0 1
B9D1 0 0 1 0 0 1
BBS10 1 0 0 0 0 1
CCDC39 0 0 1 0 0 1
FAM98C 0 1 0 0 0 1
FLVCR1 0 1 0 0 0 1
IFT140, TELO2 1 0 0 0 0 1
IFT88 0 0 1 0 0 1
LOC112939934, WDR19 0 0 1 0 0 1
SLTM 0 1 0 0 0 1
SPTAN1, WDR34 1 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 2 474 155 84 713
Invitae 50 13 125 50 198 436
Counsyl 17 80 55 2 0 154
Dan Cohn Lab,University Of California Los Angeles 119 8 18 0 0 145
OMIM 110 0 1 0 0 111
Rare Disease Group, Clinical Genetics,Karolinska Institutet 13 6 21 0 0 40
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 15 19
Fulgent Genetics 4 1 9 0 0 14
SIB Swiss Institute of Bioinformatics 1 9 1 0 0 11
Laboratory of Medical Genetics,INSERM 11 0 0 0 0 11
University of Washington Center for Mendelian Genomics,University of Washington 0 8 0 0 0 8
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 4 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 7 7
Baylor Miraca Genetics Laboratories, 2 0 3 0 0 5
David Geffen School of Medicine,University of California, Los Angeles 5 0 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 3 4
HudsonAlpha Institute for Biotechnology 1 2 1 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 2 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1

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