ClinVar Miner

Variants studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
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Gene type:
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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
99 51 234 115 43 4 529

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRP5 22 14 159 92 5 3 290
CTC1 23 17 61 21 27 0 139
NDP 20 9 2 0 0 0 30
IKBKG 15 1 1 0 0 1 17
XYLT2 2 4 2 0 8 0 16
CTC1, PFAS 1 2 5 1 0 0 9
STN1 2 0 3 1 3 0 9
ATOH7 2 1 0 0 0 0 3
FZD4, PRSS23 2 0 0 0 0 0 2
RCBTB1 0 2 0 0 0 0 2
ABCC4, ABHD13, ACOD1, ADPRHL1, AKAP11, ALG11, ALG5, ALOX5AP, AMER2, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ARL11, ATP11A, ATP11AUN, ATP12A, ATP4B, ATP7B, ATP8A2, ATXN8OS, B3GLCT, BIVM, BIVM-ERCC5, BORA, BRCA2, C1QTNF9, C1QTNF9B, CAB39L, CARS2, CBY2, CCDC122, CCDC168, CCDC169, CCDC169-SOHLH2, CCDC70, CCNA1, CDADC1, CDC16, CDK8, CDX2, CENPJ, CHAMP1, CKAP2, CLDN10, CLN5, CLYBL, CNMD, COG3, COG6, COL4A1, COL4A2, COMMD6, CPB2, CRYL1, CSNK1A1L, CUL4A, CYSLTR2, DACH1, DAOA, DCLK1, DCT, DCUN1D2, DGKH, DHRS12, DIAPH3, DIS3, DLEU1, DLEU2, DLEU7, DNAJC15, DNAJC3, DOCK9, DZIP1, EBPL, EDNRB, EEF1AKMT1, EFNB2, ELF1, ENOX1, EPSTI1, ERCC5, ERICH6B, ESD, EXOSC8, F10, F7, FAM124A, FAM216B, FARP1, FBXL3, FGF14, FGF9, FLT1, FLT3, FNDC3A, FOXO1, FREM2, FRY, GAS6, GGACT, GJA3, GJB2, GJB6, GPALPP1, GPC5, GPC6, GPR12, GPR18, GPR180, GPR183, GRTP1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HS6ST3, HSPH1, HTR2A, IFT88, IL17D, ING1, INTS6, IPO5, IRS2, ITGBL1, ITM2B, KATNAL1, KBTBD6, KBTBD7, KCNRG, KCTD12, KCTD4, KL, KLF12, KLF5, KLHL1, KPNA3, LACC1, LAMP1, LATS2, LCP1, LHFPL6, LIG4, LINC00402, LINC00427, LINC00543, LINC00558, LINC00567, LMO7, LMO7DN, LNX2, LOC100288208, LPAR6, LRCH1, LRRC63, MAB21L1, MBNL2, MCF2L, MED4, MEDAG, METTL21C, MICU2, MIPEP, MIR15A, MIR16-1, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR4500HG, MIR92A1, MLNR, MPHOSPH8, MRPL57, MRPS31, MTIF3, MTMR6, MTRF1, MTUS2, MYCBP2, MYO16, MZT1, N4BP2L1, N4BP2L2, NAA16, NALCN, NALF1, NAXD, NBEA, NDFIP2, NEK3, NEK5, NHLRC3, NUDT15, NUFIP1, NUP58, OBI1, OLFM4, OXGR1, PABPC3, PAN3, PARP4, PCCA, PCDH17, PCDH20, PCDH8, PCDH9, PCID2, PCOTH, PDS5B, PDX1, PHF11, PIBF1, POGLUT2, POLR1D, POMP, POSTN, POU4F1, PROSER1, PROZ, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, PSPC1, RAB20, RAP2A, RASA3, RASL11A, RB1, RBM26, RCBTB1, RCBTB2, RFC3, RFXAP, RGCC, RNASEH2B, RNF113B, RNF17, RNF6, RPL21, RUBCNL, RXFP2, SACS, SAP18, SCEL, SERP2, SERPINE3, SERTM1, SETDB2, SGCG, SHISA2, SIAH3, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC25A30, SLC46A3, SLC7A1, SLITRK1, SLITRK5, SLITRK6, SMAD9, SMIM2, SOHLH2, SOX1, SOX21, SPACA7, SPART, SPATA13, SPRY2, SPRYD7, STARD13, STK24, STOML3, SUCLA2, SUGT1, SUPT20H, SWINGN, TBC1D4, TDRD3, TEX26, TEX29, TEX30, TFDP1, TGDS, THSD1, TM9SF2, TMCO3, TMEM255B, TMTC4, TNFRSF19, TNFSF11, TNFSF13B, TPP2, TPT1, TPTE2, TRIM13, TRPC4, TSC22D1, TUBA3C, TUBGCP3, UBAC2, UBL3, UCHL3, UFM1, UGGT2, UPF3A, URAD, USP12, USPL1, UTP14C, VPS36, VWA8, WASF3, WBP4, WDFY2, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM2, ZMYM5 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM223A, FAM223B, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IL9R, IRAK1, L1CAM, LAGE3, LOC101927830, LOC105373383, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC107181288, LOC107522039, LOC107838685, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC111365170, LOC111589209, LOC113875014, LOC113875015, LOC113875016, LOC116309161, LOC116309162, LOC121627985, LOC121627986, LOC121853071, LOC121853072, LOC125467793, LOC125467794, LOC125467795, LOC126863349, LOC129929050, LOC129929051, LOC129929052, LOC130068821, LOC130068822, LOC130068823, LOC130068824, LOC130068825, LOC130068826, LOC130068827, LOC130068828, LOC130068829, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, LOC130068855, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, LOC130068882, LOC130068883, LOC130068884, LOC130068885, LOC130068886, LOC130068887, LOC130068888, LOC130068889, LOC130068890, LOC130068891, LOC130068892, LOC130068893, LOC130068894, LOC130068895, LOC130068896, LOC130068897, LOC130068898, MECP2, MIR1184-1, MIR1184-2, MIR1184-3, MIR3202-1, MIR3202-2, MIR664B, MIR6858, MIR718, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PDZD4, PLXNA3, PLXNB3, PNCK, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SNORA36A, SNORA56, SNORA70, SPRY3, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VAMP7, VBP1 1 0 0 0 0 0 1
ATOH7, LOC130003943 1 0 0 0 0 0 1
ATOH7, LOC132089834 1 0 0 0 0 0 1
CTAG1A, IKBKG 1 0 0 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 0 1
IKBKG, LOC107988021 1 0 0 0 0 0 1
MIP 1 0 0 0 0 0 1
PCDH12, RNF14 0 1 0 0 0 0 1
POT1 1 0 0 0 0 0 1
RHO 1 0 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 6 7 167 93 5 0 278
Genome-Nilou Lab 5 2 44 19 38 0 108
OMIM 70 0 0 0 0 0 70
Baylor Genetics 3 1 9 0 0 0 13
Revvity Omics, Revvity 4 5 4 0 0 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 5 0 0 0 1 13
Mendelics 3 1 2 1 2 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 1 3 2 0 0 6
Laboratory of Human Molecular Genetics, Department of Medical Research, Taipei Veterans General Hospital 2 2 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 3 0 0 0 0 5
3billion 2 2 1 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 3 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 3 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
Centogene AG - the Rare Disease Company 0 2 1 0 0 0 3
Godley laboratory, The University of Chicago 0 0 3 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
DBGen Ocular Genomics 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Erez Levanon lab, Bar Ilan University 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1

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