ClinVar Miner

Variants studied for Heterotaxy, visceral, 1, X-linked

Coded as:
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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 total
29 5 47 28 18 121

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ZIC3 27 5 47 28 18 119
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 1
ADGRG4, ARHGEF6, BRS3, CD40LG, FHL1, GPR101, HTATSF1, MAP7D3, RBMX, SLC9A6, VGLL1, ZIC3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 17 0 24 20 17 78
Illumina Laboratory Services, Illumina 0 0 19 7 1 27
OMIM 7 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 1 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1 2
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Stephanie Ware Laboratory, Indiana University School of Medicine 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1

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