ClinVar Miner

Variants studied for IFT140-related recessive ciliopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
135 128 966 918 84 2 2007

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFT140 66 61 576 529 50 1 1150
IFT140, LOC105371046 54 52 309 296 29 1 663
IFT140, LOC126862260 11 15 77 93 5 0 186
WDR19 2 0 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
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
CLCN7, IFT140, PTX4, TELO2 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

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 104 29 711 888 75 0 1807
Fulgent Genetics, Fulgent Genetics 17 80 321 71 2 0 491
Illumina Laboratory Services, Illumina 0 1 124 18 32 0 175
OMIM 22 0 0 0 0 0 22
Genome-Nilou Lab 0 0 0 0 12 0 12
MVZ Medizinische Genetik Mainz 0 11 1 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 7 0 11
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 11 0 0 0 0 0 11
DBGen Ocular Genomics 1 0 5 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
3billion 2 2 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 Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 1 1 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 2 2 0 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 2 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Eurofins-Biomnis 1 1 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Mendelics 1 0 0 0 1 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Centre for Human Genetics, University of Kinshasa 0 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Child Health Department, West China Second University Hospital, Sichuan University 0 1 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 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
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1

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