ClinVar Miner

Variants studied for Jeune syndrome

Included ClinVar conditions (35):
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
325 156 744 177 120 1458

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 91 26 179 24 14 321
EVC 28 43 95 76 46 274
EVC2 36 47 93 12 11 188
TTC21B 10 6 77 15 6 114
IFT140 13 1 74 17 8 107
WDR19 18 2 55 6 4 83
IFT80, TRIM59-IFT80 9 1 53 8 3 71
IFT140, LOC105371046 11 2 31 8 3 53
NEK1 18 2 13 2 9 42
KIAA0586 11 3 10 0 4 28
WDR35 12 5 10 0 1 27
WDR34 15 0 2 2 2 21
CEP120 3 1 13 2 1 20
WDR60 7 1 7 1 5 20
IFT172 4 2 12 0 1 18
DYNC2LI1 10 1 1 0 0 12
EVC, EVC2 0 0 1 4 2 5
IFT81 3 3 1 0 0 5
INTU 3 3 2 0 0 5
TRAF3IP1 4 0 1 0 0 5
IFT43 2 1 2 0 0 4
IFT52 3 0 1 0 0 4
KIAA0753 3 1 0 0 0 4
IFT172, KRTCAP3 1 0 2 0 0 3
TCTEX1D2 2 1 0 0 0 3
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, 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: 37
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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 65 20 176 12 29 302
Counsyl 17 81 55 2 0 155
Dan Cohn Lab,University Of California Los Angeles 119 8 18 0 0 145
OMIM 111 0 1 0 0 112
Rare Disease Group, Clinical Genetics,Karolinska Institutet 13 7 21 0 0 41
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 15 19
Mendelics 5 2 1 0 6 14
Fulgent Genetics,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
Institute of Human Genetics,Klinikum rechts der Isar 4 3 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 7 7
Baylor Genetics 2 0 3 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 1 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, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 2
Cancer Diagnostics Division,Gene Solutions 2 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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