ClinVar Miner

Variants studied for visceral heterotaxy

Included ClinVar conditions (28):
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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 association not provided total
96 56 413 145 176 1 1 848

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ACVR2B 2 1 190 46 81 0 0 310
NODAL 8 11 60 29 15 0 1 112
ZIC3 27 4 45 24 16 0 0 109
PKD1L1 11 11 22 6 29 0 0 78
CFAP53 4 3 30 21 14 0 0 69
CFAP52 3 3 23 16 17 0 0 60
MMP21 14 7 4 1 1 0 0 25
CIROP 6 1 3 0 0 0 0 10
ACVR2B, LOC129936486 0 0 7 2 0 0 0 9
CERS1, GDF1 3 2 3 0 1 0 0 9
MNS1, TEX9 3 3 3 0 0 0 0 8
CFC1 3 0 1 0 2 0 0 5
CFAP45 4 0 0 0 0 0 0 4
BRWD1 0 1 2 0 0 0 0 3
DNAH11 0 3 0 0 0 0 0 3
CERS1, GDF1, UPF1 1 2 0 0 0 0 0 2
DNAH7 2 0 0 0 0 0 0 2
LEFTY2 0 0 2 0 0 0 0 2
RNF128 0 0 2 0 0 0 0 2
ZFYVE16 0 0 2 0 0 0 0 2
ABCB7, ACSL4, ACTRT1, ADGRG4, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, APEX2, APLN, APOOL, AR, ARAF, ARHGAP36, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP1B4, ATP6AP2, ATP7A, ATRX, AWAT1, AWAT2, BCOR, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BMP15, BRS3, BRWD3, BTK, C1GALT1C1, CACNA1F, CAPN6, CASK, CCDC120, CCDC160, CCDC22, CCNB3, CD40LG, CDK16, CDX4, CENPI, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, COL4A5, COL4A6, COX7B, CPXCR1, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CUL4B, CXCR3, CXorf38, CXorf49, CXorf49B, CXorf65, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DDX3X, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMRTC1, DMRTC1B, DNAAF6, DOCK11, DRP2, DUSP21, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, ELF4, ELK1, ENOX2, ERAS, ERCC6L, ESX1, FAAH2, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM47C, FGD1, FGF16, FHL1, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTSJ1, FTX, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GLA, GLOD5, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GSPT2, GUCY2F, H2AP, H2BW1, H2BW2, HDAC6, HDAC8, HDX, HEPH, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HTATSF1, HTR2C, HUWE1, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INE1, INTS6L, IQSEC2, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL4, KRBOX4, LAMP2, LANCL3, LAS1L, LHFPL1, LINC01560, LONRF3, LPAR4, LRCH2, LUZP4, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAOA, MAOB, MAP7D3, MBNL3, MCTS1, MED12, MED14, MID1IP1, MID2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR424, MIR448, MIR502, MIR503, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTMR8, MTRNR2L10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OGT, OPHN1, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PBDC1, PCDH11X, PCDH19, PCSK1N, PDZD11, PFKFB1, PGAM4, PGK1, PGRMC1, PHF6, PHF8, PHKA1, PIM2, PIN4, PJA1, PLAC1, PLP1, PLP2, PLS3, POF1B, PORCN, POU3F4, PPP1R3F, PQBP1, PRAF2, PRICKLE3, PRPS1, PRR32, PRRG1, PSMD10, PWWP3B, RAB33A, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RRAGB, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SHROOM4, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC7A3, SLC9A6, SLC9A7, SMARCA1, SMC1A, SMIM10, SNORA11, SNX12, SOWAHD, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPX, SRPX2, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, SUV39H1, SYN1, SYP, SYTL4, SYTL5, TAF1, TAF7L, TAF9B, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TMEM164, TMEM255A, TMEM31, TMEM35A, TMSB15A, TMSB15B, TNMD, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, UBA1, UBE2A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VCF2, VGLL1, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZXDA, ZXDB 1 0 0 0 0 0 0 1
ACAA1, ACVR2B, APRG1, CTDSPL, DLEC1, EPM2AIP1, EXOG, GOLGA4, ITGA9, LRRFIP2, MIR26A1, MLH1, MYD88, OXSR1, PLCD1, SCN10A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 0 0 1 0 0 0 0 1
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 0 0 1 0 0 0 0 1
ADGRG4, ARHGEF6, BRS3, CD40LG, FHL1, GPR101, HTATSF1, MAP7D3, RBMX, SLC9A6, VGLL1, ZIC3 1 0 0 0 0 0 0 1
BRWD1, LOC130066680 0 0 1 0 0 0 0 1
CCDC103 1 0 0 0 0 0 0 1
CDCA7L, DNAH11 0 1 0 0 0 0 0 1
CTPS2 0 0 1 0 0 0 0 1
DNAH11, LOC126859961 0 1 0 0 0 0 0 1
DNAH2 0 0 1 0 0 0 0 1
EIF4EBP2, NODAL 1 0 0 0 0 0 0 1
EIF4EBP2, NODAL, PALD1, PRF1 0 0 1 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 1
MNS1 1 0 0 0 0 0 0 1
MYRF 0 1 0 0 0 0 0 1
PIEZO2 0 1 0 0 0 0 0 1
RAI2 0 0 1 0 0 0 0 1
ROCK2 0 0 1 0 0 0 0 1
SH3KBP1 0 0 1 0 0 0 0 1
SMC6 0 0 1 0 0 0 0 1
SUPT16H 0 0 1 0 0 0 0 1
SYTL5 0 0 1 0 0 0 0 1
USP45 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 22 4 142 105 72 0 0 345
Illumina Laboratory Services, Illumina 0 0 204 33 84 0 0 321
OMIM 57 0 1 0 0 0 0 58
Baylor Genetics 3 7 20 0 0 0 0 30
Genome-Nilou Lab 0 0 0 0 28 0 0 28
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 3 8 0 0 0 0 18
Revvity Omics, Revvity 0 4 10 0 0 0 0 14
Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University 0 3 9 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 4 4 1 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 3 4 4 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 1 5 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 1 1 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 5 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 2 0 0 0 0 5
Mendelics 0 0 0 2 2 0 0 4
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 0 1 3 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 0 3
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 3 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 3
Genomic Medicine Lab, University of California San Francisco 0 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 0 2
Institute of Human Genetics, Medical University Innsbruck 2 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 0 2
Department of Medical Biology, Academic Medical Center 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 0 2
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
New Leaf Center 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Stephanie Ware Laboratory, Indiana University School of Medicine 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1

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