ClinVar Miner

Variants studied for Jeune syndrome

Included ClinVar conditions (45):
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 not provided total
1352 843 5885 7302 873 8 15268

Gene and significance breakdown #

Total genes and gene combinations: 77
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYNC2H1 340 244 673 1781 149 1 2890
EVC2 194 124 359 932 72 0 1598
EVC 163 124 417 861 112 0 1574
KIAA0586 82 34 586 407 56 2 1164
TTC21B 72 36 520 423 55 0 1032
WDR19 63 37 484 386 40 0 953
IFT172 43 26 459 421 26 0 950
IFT140 53 22 470 456 48 1 948
IFT80, TRIM59-IFT80 42 17 306 205 34 1 569
NEK1 46 27 281 200 42 0 550
IFT140, LOC105371046 39 18 251 236 29 0 522
WDR35 28 15 250 159 54 0 474
DYNC2I1 19 9 144 169 41 1 375
CEP120 17 10 130 143 36 0 334
DYNC2I2 25 9 127 125 17 0 296
IFT172, KRTCAP3 10 7 74 68 7 1 159
IFT140, LOC126862260 6 6 69 77 5 0 154
IFT172, LOC126806173 9 3 68 56 5 1 138
DYNC2I2, LOC126860772 11 4 70 47 7 0 134
EVC2, LOC126806961 11 12 33 63 11 0 123
IFT172, LOC126806174 6 2 30 40 2 0 77
IFT43 2 4 24 12 3 0 42
EVC, LOC129992144 6 11 5 6 0 0 25
DYNC2LI1 11 2 5 0 1 0 18
KIAA0753 6 1 0 3 9 0 18
EVC2, LOC126806962 0 1 3 12 0 0 16
IFT81 7 5 3 0 0 0 11
EVC, EVC2 5 0 1 4 3 0 10
IFT52 6 1 3 0 1 0 10
IFT80 4 1 5 0 0 0 10
INTU 2 4 2 2 2 0 9
LOC129933186, WDR35 0 0 4 2 1 0 7
DYNC2I1, LOC129999765 0 0 1 4 0 0 5
TRAF3IP1 4 4 1 0 0 0 5
ABCG5, DYNC2LI1 1 2 1 0 0 0 4
DYNLT2B, TM4SF19-DYNLT2B 2 0 1 0 1 0 4
LOC129993365, NEK1 0 0 3 1 0 0 4
DYNLT2B 2 1 0 0 0 0 3
GRK2 1 2 0 0 0 0 3
IFT74 0 3 2 0 0 0 3
C2CD3 0 0 2 0 0 0 2
CBR4, NEK1, PALLD, SH3RF1 1 0 1 0 0 0 2
DYNC1H1 0 1 1 0 0 0 2
DYNC2I2, LOC126860772, SPTAN1 1 0 1 0 0 0 2
DYNC2I2, SPTAN1 1 1 1 0 0 0 2
EVC, LOC129992148 0 0 1 1 0 0 2
FUZ 1 2 1 0 0 0 2
INTU, LOC126807151 0 2 1 0 0 0 2
LBR 2 2 0 0 0 0 2
LOC129993367, NEK1 0 0 0 0 2 0 2
RAB34 0 2 0 0 0 0 2
ABCA3, ADCY9, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 0 1 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 0 1
ANGPTL5, BIRC2, BIRC3, CEP126, CFAP300, DCUN1D5, DYNC2H1, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, TMEM123, TRPC6, YAP1 1 0 0 0 0 0 1
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, DECR2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, IFT140, JMJD8, LMF1, LUC7L, MCRIP2, METRN, METTL26, MRPL28, MSLN, NHLRC4, NME4, PDIA2, PGAP6, PIGQ, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDL1, RHOT2, RPUSD1, SOX8, SSTR5, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1 1 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 1
B9D1 0 0 1 0 0 0 1
BBS10 1 0 0 0 0 0 1
CCDC39 0 0 1 0 0 0 1
CLCN7, IFT140, PTX4, TELO2 0 0 1 0 0 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 0 0 0 0 1
DYNLT2B, LOC129938285, TM4SF19-DYNLT2B 0 0 1 0 0 0 1
FAM98C 0 1 0 0 0 0 1
FLVCR1, LOC129932486 0 1 0 0 0 0 1
FNDC4, GCKR, IFT172 0 0 1 0 0 0 1
IFT140, PTX4, TELO2 0 0 1 0 0 0 1
IFT140, TELO2 1 0 0 0 0 0 1
IFT140, TMEM204 0 0 1 0 0 0 1
IFT88 0 1 1 0 0 0 1
INTU, LOC123480930 1 0 0 0 0 0 1
KIF24 1 0 0 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 0 1
LOC129935046, TTC21B 0 0 0 0 1 0 1
LOC129993366, NEK1 0 0 1 0 0 0 1
MATN3, WDR35 0 0 0 0 1 0 1
SLTM 0 1 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1073 341 4700 7101 738 0 13953
Illumina Laboratory Services, Illumina 0 2 1013 152 273 0 1419
Fulgent Genetics, Fulgent Genetics 30 49 519 217 14 0 829
University of Washington Center for Mendelian Genomics, University of Washington 1 221 0 0 0 0 222
Dan Cohn Lab, University Of California Los Angeles 183 10 20 0 0 0 212
Counsyl 16 80 54 2 0 0 152
Natera, Inc. 15 3 61 32 31 0 142
Genome-Nilou Lab 0 3 6 3 122 0 134
OMIM 123 0 1 0 0 0 124
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 5 37 23 44 0 112
Myriad Genetics, Inc. 1 91 1 0 0 0 93
Revvity Omics, Revvity 10 9 33 1 0 0 53
Rare Disease Group, Clinical Genetics, Karolinska Institutet 13 10 21 0 0 0 44
Baylor Genetics 8 6 29 0 0 0 43
Pars Genome Lab 0 0 0 1 28 0 29
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 10 8 0 0 0 25
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 15 0 19
New York Genome Center 1 3 15 0 0 0 19
Mendelics 6 4 1 0 6 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 5 8 0 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 5 0 0 0 0 14
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 6 7 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 1 4 8 0 0 0 13
SIB Swiss Institute of Bioinformatics 1 9 1 0 0 0 11
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 11 0 0 0 0 0 11
3billion 2 4 5 0 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 3 3 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 1 3 0 0 0 9
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 1 2 0 0 0 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 3 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 3 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 1 5 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 3 2 1 0 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 2 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 5
David Geffen School of Medicine, University of California, Los Angeles 5 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 1 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 2 3 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 2 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 4 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 2 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 2 1 1 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 4 0 0 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 1 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Care4Rare-SOLVE, CHEO 0 2 0 0 0 0 2
Department Of Medical Genetics, Faculty Of Medicine, Ege University 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Cancer Diagnostics Division, Gene Solutions 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 0 2 0 0 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana, FISABIO Oftalmología Médica 2 0 0 0 0 0 2
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 0 0 2 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
DASA 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 2 0 0 0 0 2
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Cormier-Daire Lab, IMAGINE 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.