ClinVar Miner

Variants studied for Polydactyly

Coded as:
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 total
2 0 86 27 94 209

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic uncertain significance likely benign benign total
GLI3 0 84 27 94 205
AARD, ABRA, ADAM18, ADAM2, ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADCK5, ADCY8, ADGRA2, ADGRB1, ADHFE1, ADRA1A, ADRB3, AGO2, AGPAT5, ALKAL1, ANGPT1, ANGPT2, ANK1, ANKRD46, ANXA13, AP3M2, ARC, ARFGEF1, ARHGAP39, ARHGEF10, ARMC1, ASAH1, ASAP1, ASAP1-IT1, ASH2L, ASPH, ATAD2, ATP6V0D2, ATP6V1B2, ATP6V1C1, ATP6V1H, AZIN1, BAALC, BAG4, BHLHE22, BIN3, BLK, BMP1, BNIP3L, BOP1, BPNT2, BRF2, C8orf17, C8orf33, C8orf34, C8orf44, C8orf44-SGK3, C8orf48, C8orf58, C8orf74, C8orf76, C8orf82, CA1, CA13, CA2, CA3, CA8, CALB1, CCAR2, CCDC166, CCDC25, CCN3, CCN4, CCNE2, CDCA2, CDH17, CEBPD, CFAP418, CHCHD7, CHD7, CHMP4C, CHMP7, CHRAC1, CHRNA2, CHRNA6, CHRNB3, CIBAR1, CLDN23, CLN8, CLU, CLVS1, CLXN, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COLEC10, COMMD5, COPS5, COX6C, CPA6, CPNE3, CPQ, CPSF1, CRH, CRISPLD1, CSGALNACT1, CSMD1, CSMD3, CSPP1, CTHRC1, CTSB, CYC1, CYP11B1, CYP11B2, CYP7A1, CYP7B1, CYRIB, DCAF13, DCAF4L2, DCSTAMP, DCTN6, DDHD2, DECR1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB130A, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DENND3, DEPTOR, DERL1, DGAT1, DKK4, DLC1, DLGAP2, DMTN, DNAAF11, DNAJC5B, DOCK5, DOK2, DPY19L4, DPYS, DPYSL2, DSCC1, DUSP26, DUSP4, E2F5, EBAG9, EBF2, EEF1D, EFR3A, EGR3, EIF3E, EIF3H, EIF4EBP1, ELOC, ELP3, EMC2, ENPP2, ENTPD4, ENY2, EPHX2, EPPK1, ERI1, ERICH1, ERICH5, ERLIN2, ESCO2, ESRP1, EXOSC4, EXT1, EXTL3, EYA1, FABP12, FABP4, FABP5, FABP9, FAM110B, FAM135B, FAM167A, FAM83A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FBXL6, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FNTA, FOXH1, FSBP, FUT10, FZD3, FZD6, GATA4, GDAP1, GDF6, GEM, GFRA2, GFUS, GGH, GINS4, GLI4, GML, GNRH1, GOLGA7, GOT1L1, GPAA1, GPAT4, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GSDMC, GSDMD, GSR, GTF2E2, HAS2, HEY1, HGH1, HGSNAT, HHLA1, HMBOX1, HNF4G, HOOK3, HR, HSF1, HTRA4, IDO1, IDO2, IKBKB, IL7, IMPA1, INTS10, INTS8, INTS9, JPH1, JRK, KAT6A, KBTBD11, KCNB2, KCNK9, KCNQ3, KCNS2, KCNU1, KCNV1, KCTD9, KHDRBS3, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LAPTM4B, LEPROTL1, LETM2, LGI3, LINC00293, LINC00536, LINC01602, LINC02906, LINC03042, LONRF1, LOXL2, LPL, LRATD2, LRP12, LRRC14, LRRC24, LRRC69, LRRCC1, LSM1, LY6D, LY6E, LY6H, LY6K, LY6S, LY96, LYN, LYNX1, LYPD2, LYPLA1, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MED30, MFHAS1, MFSD3, MICU3, MIR1234, MIR124-1, MIR320A, MIR661, MMP16, MOS, MROH1, MROH5, MROH6, MRPL13, MRPL15, MRPS28, MSC, MSR1, MSRA, MTBP, MTDH, MTERF3, MTFR1, MTMR7, MTMR9, MTSS1, MTUS1, MYBL1, MYC, MYOM2, NAPRT, NAT1, NAT2, NBN, NCALD, NCOA2, NDRG1, NDUFAF6, NDUFB9, NECAB1, NEFL, NEFM, NEIL2, NIPAL2, NKAIN3, NKX2-6, NKX3-1, NKX6-3, NPBWR1, NPM2, NRBP2, NRG1, NSD3, NSMAF, NSMCE2, NTAQ1, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OSGIN2, OSR2, OTUD6B, OXR1, PABPC1, PAG1, PARP10, PBK, PCAT1, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PDP1, PEBP4, PENK, PEX2, PHF20L1, PHYHIP, PI15, PINX1, PIP4P2, PIWIL2, PKHD1L1, PKIA, PLAG1, PLAT, PLEC, PLEKHA2, PLEKHF2, PLPBP, PLPP5, PMP2, PNMA2, PNOC, POLB, POLR2K, POLR3D, POMK, POP1, POTEA, POU5F1B, PPDPFL, PPP1R16A, PPP1R3B, PPP1R42, PPP2CB, PPP2R2A, PPP3CC, PRDM14, PREX2, PRKDC, PRSS51, PRSS55, PSCA, PSD3, PSKH2, PTDSS1, PTK2, PTK2B, PTP4A3, PUF60, PURG, PVT1, PXDNL, PYCR3, R3HCC1, RAB11FIP1, RAB2A, RAD21, RAD54B, RALYL, RB1CC1, RBIS, RBM12B, RBPMS, RDH10, RECQL4, REEP4, RGS20, RGS22, RHOBTB2, RHPN1, RIDA, RIMS2, RIPK2, RMDN1, RNF122, RNF139, RNF170, RNF19A, RP1, RP1L1, RPL30, RPL7, RPL8, RPS20, RRM2B, RRS1, RSPO2, RUNX1T1, SAMD12, SARAF, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SCX, SDC2, SDCBP, SDR16C5, SFRP1, SFTPC, SGCZ, SGK3, SH2D4A, SHARPIN, SLA, SLC10A5, SLC18A1, SLC20A2, SLC25A32, SLC25A37, SLC26A7, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC52A2, SLC7A13, SLC7A2, SLCO5A1, SLURP1, SMIM18, SMIM19, SNAI2, SNHG6, SNORD87, SNTB1, SNTG1, SNX16, SNX31, SORBS3, SOX17, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, SPIDR, SQLE, ST18, ST3GAL1, STAR, STAU2, STC1, STK3, STMN2, STMN4, SULF1, SYBU, TACC1, TAF2, TATDN1, TBC1D31, TCEA1, TCF24, TCIM, TDRP, TERF1, TEX15, TG, TGS1, THAP1, THEM6, TIGD5, TM2D2, TMEM249, TMEM64, TMEM65, TMEM67, TMEM68, TMEM70, TMEM71, TMEM74, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TOX, TP53INP1, TPD52, TRAM1, TRAPPC9, TRHR, TRIB1, TRIM35, TRIM55, TRIQK, TRMT12, TRMT9B, TRPA1, TRPS1, TSNARE1, TSPYL5, TTI2, TTPA, TUSC3, UBE2V2, UBE2W, UBR5, UBR5-DT, UBXN2B, UBXN8, UNC5D, UQCRB, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, UTP23, VCPIP1, VDAC3, VIRMA, VPS13B, VPS28, VPS37A, VXN, WASHC5, WRN, WWP1, XKR4, XKR5, XKR6, XKR9, XPO7, YTHDF3, YWHAZ, ZBTB10, ZC2HC1A, ZC3H3, ZDHHC2, ZFAND1, ZFAT, ZFHX4, ZFP41, ZFPM2, ZFTRAF1, ZHX1, ZHX1-C8orf76, ZHX2, ZMAT4, ZNF16, ZNF250, ZNF251, ZNF34, ZNF395, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF7, ZNF703, ZNF704, ZNF705B, ZNF705D, ZNF705G, ZNF706, ZNF707 1 0 0 0 1
BRCA2 1 0 0 0 1
CC2D2A 0 1 0 0 1
TUBD1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 84 27 94 205
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1

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