ClinVar Miner

Variants studied for Jeune syndrome

Included ClinVar conditions (46):
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
1487 1216 6615 8030 891 8 17049

Gene and significance breakdown #

Total genes and gene combinations: 81
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYNC2H1 387 350 715 1888 149 1 3155
EVC2 207 160 436 957 73 0 1737
EVC 172 148 417 898 112 0 1632
KIAA0586 85 37 600 476 57 2 1254
TTC21B 80 57 586 476 56 0 1163
IFT172 49 53 539 504 26 0 1119
WDR19 71 66 554 447 42 0 1114
IFT140 60 50 538 490 49 1 1063
NEK1 51 34 333 240 44 0 651
IFT80, TRIM59-IFT80 44 33 346 229 34 1 640
WDR35 35 30 347 194 55 0 616
IFT140, LOC105371046 41 50 287 266 29 0 602
DYNC2I1 20 10 151 206 43 1 423
CEP120 19 10 138 177 41 0 381
DYNC2I2 28 10 126 142 17 0 317
IFT172, KRTCAP3 11 8 85 80 7 1 178
IFT140, LOC126862260 8 12 73 82 5 0 168
IFT172, LOC126806173 10 4 79 62 6 1 156
DYNC2I2, LOC126860772 11 4 73 54 7 0 144
EVC2, LOC126806961 11 15 44 65 11 0 138
IFT172, LOC126806174 6 5 39 45 2 0 92
IFT43 2 13 43 15 3 0 73
EVC, LOC129992144 6 12 5 6 0 0 26
DYNC2LI1 11 3 5 0 1 0 19
KIAA0753 6 2 0 3 9 0 19
EVC2, LOC126806962 0 1 5 12 0 0 18
EVC, EVC2 9 0 2 4 3 0 15
IFT80 5 1 5 0 0 0 11
IFT81 7 5 3 0 0 0 11
IFT52 6 1 3 0 1 0 10
INTU 2 4 2 2 2 0 9
LOC129933186, WDR35 0 0 6 2 1 0 9
DYNC2I1, LOC129999765 0 0 1 6 0 0 7
ABCG5, DYNC2LI1 1 3 1 0 0 0 5
TRAF3IP1 4 4 1 0 0 0 5
DYNLT2B, TM4SF19-DYNLT2B 2 0 1 0 1 0 4
LOC129993365, NEK1 0 0 3 1 0 0 4
DYNC1H1 0 1 2 0 0 0 3
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
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
CACNG2-DT, IFT27 1 0 0 0 0 0 1
CACNG2-DT, IFT27, LOC126863139 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
EVC2, LINC01587, STK32B 1 0 0 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
UCP3 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1199 384 4895 7821 755 0 15054
Fulgent Genetics, Fulgent Genetics 80 426 1345 229 14 0 2094
Illumina Laboratory Services, Illumina 3 2 1012 152 273 0 1421
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 14 10 21 0 0 0 45
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 14 20 10 0 1 0 44
Baylor Genetics 8 6 29 0 0 0 43
Juno Genomics, Hangzhou Juno Genomics, Inc 7 10 13 0 0 0 30
Pars Genome Lab 0 0 0 1 28 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 11 0 0 0 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 6 13 0 0 0 25
Neuberg Centre For Genomic Medicine, NCGM 2 10 11 0 0 0 23
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 3 2 0 6 0 17
3billion, Medical Genetics 2 4 5 1 0 0 12
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 1 2 0 0 0 10
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
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
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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 4 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 1 0 1 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
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 1 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 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
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 0 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 0 2 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 2 0 0 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
MedGen Diagnostic Laboratory, MedGen Medical Centre 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 Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1

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