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
489 414 2294 1031 520 4280

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC 64 64 264 212 81 612
DYNC2H1 99 141 312 90 86 588
EVC2 78 63 141 231 72 522
IFT140 24 6 280 102 30 414
IFT172 16 6 232 66 15 332
WDR19 26 19 209 73 21 317
IFT80, TRIM59-IFT80 16 10 167 44 17 233
WDR35 15 10 140 41 40 231
TTC21B 11 14 145 38 38 220
IFT140, LOC105371046 17 10 125 28 16 186
NEK1 22 13 102 34 29 176
KIAA0586 21 7 48 23 25 123
DYNC2I1 8 8 24 17 19 73
CEP120 7 1 34 13 10 65
DYNC2I2 16 9 16 10 11 57
IFT172, KRTCAP3 4 1 33 5 6 49
DYNC2LI1 11 2 1 0 0 13
IFT52 6 1 1 0 0 7
EVC, EVC2 1 0 1 4 3 6
IFT81 3 4 1 0 0 6
INTU 3 5 2 0 0 5
TRAF3IP1 4 4 1 0 0 5
IFT43 2 2 2 0 0 4
KIAA0753 3 1 0 0 0 4
DYNLT2B 2 1 0 0 0 3
IFT74 0 3 2 0 0 3
C2CD3 0 0 2 0 0 2
DYNC2I2, SPTAN1 1 0 1 0 0 2
DYNLT2B, TM4SF19-DYNLT2B 2 0 0 0 0 2
FUZ 1 2 1 0 0 2
IFT80 1 0 1 0 0 2
LBR 2 2 0 0 0 2
ABCG5, DYNC2LI1 1 0 0 0 0 1
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 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, PTX4, TELO2 0 0 1 0 0 1
IFT140, TELO2 1 0 0 0 0 1
IFT140, TMEM204 0 0 1 0 0 1
IFT88 0 1 1 0 0 1
LOC112939934, WDR19 0 0 1 0 0 1
MATN3, WDR35 0 0 0 0 1 1
SLTM 0 1 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 235 78 1211 893 375 2792
Illumina Clinical Services Laboratory,Illumina 0 2 1013 152 273 1419
University of Washington Center for Mendelian Genomics, University of Washington 0 219 0 0 0 219
Counsyl 16 81 55 2 0 154
Dan Cohn Lab,University Of California Los Angeles 119 8 18 0 0 145
OMIM 117 0 1 0 0 118
Natera, Inc. 5 0 35 15 28 83
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 17 14 33 65
Rare Disease Group, Clinical Genetics,Karolinska Institutet 13 8 21 0 0 42
Baylor Genetics 5 3 28 0 0 36
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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 4 7 0 0 0 11
SIB Swiss Institute of Bioinformatics 1 9 1 0 0 11
Laboratory of Medical Genetics, INSERM 11 0 0 0 0 11
Human Genetics - Radboudumc,Radboudumc 5 1 3 0 0 9
Institute of Human Genetics, Klinikum rechts der Isar 4 3 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 3 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 7
David Geffen School of Medicine,University of California, Los Angeles 5 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 3 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 3 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 2 2 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 4 0 0 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, 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 2 0 0 2
Nilou-Genome Lab 0 0 1 1 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana,FISABIO Oftalmología Médica 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1
MNM Diagnostics 1 0 0 0 0 1

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