ClinVar Miner

Variants studied for chromosome 10 disorder

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
77 21 95 23 43 7 260

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GATA3 35 7 58 12 32 1 142
WAC 32 13 15 0 0 4 61
FBXW4 0 0 14 11 5 0 30
FBXW4, LOC130004563 0 0 6 0 4 0 10
GATA3, LOC130003278 0 0 1 0 2 0 3
LOC130003576, WAC 0 1 0 0 0 1 2
​intergenic 1 0 0 0 0 0 1
A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf120, C10orf126, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPMIP5, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT 1 0 0 0 0 0 1
A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf120, C10orf126, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDH23, CDHR1, CDK1, CDNF, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKG1, PRLHR, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEMA4G, SEPHS1, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPMIP5, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UROS, USP54, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT 1 0 0 0 0 0 1
ABLIM1, ABRAXAS2, ACADSB, ACSL5, ADAM12, ADAM8, ADD3, ADGRA1, ADRA2A, ADRB1, AFAP1L2, ARMS2, ATE1, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf88, C10orf90, CACUL1, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, DUSP5, EBF3, ECHS1, EDRF1, EEF1AKMT2, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM53B, FANK1, FGFR2, FHIP2A, FOXI2, FUOM, GFRA1, GLRX3, GPAM, GPR26, GRK5, HABP2, HMX2, HMX3, HSPA12A, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, KCNK18, KNDC1, LHPP, LINC01166, LINC02870, LRRC27, MCMBP, MGMT, MKI67, MMP21, MTG1, MXI1, NANOS1, NHLRC2, NKX1-2, NKX6-2, NPS, NRAP, NSMCE4A, OAT, PAOX, PDCD4, PDZD8, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, SEC23IP, SFXN4, SHOC2, SHTN1, SLC18A2, SMC3, SMNDC1, SPMIP5, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCF7L2, TDRD1, TECTB, TEX36, TIAL1, TRUB1, TUBGCP2, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WDR11, XPNPEP1, ZDHHC6, ZNF511, ZRANB1 1 0 0 0 0 0 1
ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ARMS2, ATE1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf88, C10orf90, CALY, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EEF1AKMT2, FAM24A, FAM24B, FAM53B, FANK1, FOXI2, FUOM, GLRX3, GPR26, HMX2, HMX3, HTRA1, IKZF5, INPP5A, INSYN2A, JAKMIP3, KNDC1, LHPP, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MMP21, MTG1, NKX1-2, NKX6-2, NPS, NSMCE4A, OAT, PAOX, PLEKHA1, PPP2R2D, PRAP1, PSTK, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TEX36, TUBGCP2, UROS, UTF1, VENTX, ZNF511, ZRANB1 1 0 0 0 0 0 1
ABRAXAS2, ADAM12, ADAM8, ADGRA1, BCCIP, BNIP3, BUB3, C10orf90, CALY, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CYP2E1, DHX32, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EEF1AKMT2, FAM53B, FANK1, FOXI2, FRG2B, FUOM, GLRX3, GPR26, HMX2, HMX3, INPP5A, INSYN2A, JAKMIP3, KNDC1, LHPP, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MMP21, MTG1, NKX1-2, NKX6-2, NPS, OAT, PAOX, PPP2R2D, PRAP1, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TCERG1L, TEX36, TUBGCP2, UROS, UTF1, VENTX, ZNF511, ZRANB1 1 0 0 0 0 0 1
ACADSB, ARMS2, ATE1, ATRNL1, BAG3, BTBD16, BUB3, C10orf120, C10orf82, C10orf88, CACUL1, CASC2, CCDC172, CUZD1, DENND10, DMBT1, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FGFR2, GFRA1, GRK5, HMX2, HMX3, HSPA12A, HTRA1, IKZF5, INPP5F, KCNK18, MCMBP, NANOS1, NSMCE4A, PDZD8, PLEKHA1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PRDX3, PRLHR, PSTK, RAB11FIP2, RGS10, SEC23IP, SFXN4, SHTN1, SLC18A2, TACC2, TIAL1, VAX1, WDR11 1 0 0 0 0 0 1
ACBD7, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, C1QL3, CACNB2, CALML3, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CUBN, DCLRE1C, DHTKD1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GDI2, HACD1, HSPA14, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, MCM10, MEIG1, MINDY3, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PHYH, PRKCQ, PROSER2, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SLC39A12, ST8SIA6, STAM, SUV39H2, TAF3, TASOR2, TRDMT1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, VIM 1 0 0 0 0 0 1
ADAM12, ADAM8, ADGRA1, BNIP3, C10orf90, CALY, CFAP46, CLRN3, CYP2E1, DHX32, DOCK1, DPYSL4, EBF3, ECHS1, FANK1, FOXI2, FRG2B, FUOM, GLRX3, INPP5A, INSYN2A, JAKMIP3, KNDC1, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MTG1, NKX6-2, NPS, PAOX, PPP2R2D, PRAP1, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TCERG1L, TUBGCP2, UTF1, VENTX, ZNF511 1 0 0 0 0 0 1
ADAM8, ADGRA1, BNIP3, CALY, CFAP46, CLRN3, CYP2E1, DOCK1, DPYSL4, EBF3, ECHS1, FOXI2, FUOM, GLRX3, INPP5A, INSYN2A, JAKMIP3, KNDC1, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MTG1, NKX6-2, NPS, PAOX, PPP2R2D, PRAP1, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TCERG1L, TUBGCP2, UTF1, VENTX, ZNF511 1 0 0 0 0 0 1
ADIRF, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, LDB3, LINC01520, LOC101929662, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TSPAN14, WAPL 1 0 0 0 0 0 1
BTRC, DPCD, FBXW4, FGF8, KAZALD1, LBX1, NPM3, OGA, POLL, TLX1, TLX1NB 1 0 0 0 0 0 1
LOC130003574, WAC 0 0 0 0 0 1 1
NEBL 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 64 13 42 0 119
OMIM 22 0 0 0 0 0 22
Revvity Omics, Revvity 4 2 9 0 0 0 15
Fulgent Genetics, Fulgent Genetics 0 0 5 10 0 0 15
Baylor Genetics 4 1 2 0 0 0 7
3billion 3 3 1 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 5 0 0 0 0 0 5
Mendelics 3 0 1 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Serviço de Genética Médica, Centro Hospitalar e Universitário de São João 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
Medical Genetics Laboratory, Aldo Moro University of Bari 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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