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Items: 22

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:71165491-71276077
SMR3B, SMR3A, OPRPN, CABS1not providedBenign
(May 9, 2012)
no assertion criteria provided
2.
GRCh37:
Chr4:71165491-71272547
SMR3B, SMR3A, OPRPN, CABS1not providedBenign
(Apr 4, 2016)
no assertion criteria provided
3.
GRCh37:
Chr4:58332294-71587615
not providedPathogenic
(May 11, 2011)
no assertion criteria provided
4.
GRCh37:
Chr4:49450-190963766
NFKB1, NKX6-1, NPY1R, NPY2R, NPY5R, PCDH7, PDGFRA, PDE6B, PDHA2, GATB, PF4, PF4V1, PITX2, PKD2, PLRG1, EXOSC9, POLR2B, POU4F2, PPEF2, PPAT, PPBP, PPID, PPP2R2C, PPP3CA, PRKG2, MAPK10, PTPN13, QDPR, RAP1GDS1, REST, RFC1, RGS12, RNF4, ABCE1, RPL9, RPL34, RPS3A, S100P, MSMO1, CXCL6, CXCL11, CXCL5, SFRP2, SGCB, SH3BP2, SNCA, SOD3, SPINK2, SPP1, SRP72, STATH, SULT1E1, TACR3, TDO2, TEC, TLL1, TLR1, TLR2, TLR3, TRPC3, TXK, UBE2D3, UCHL1, UCP1, UGDH, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, UGT8, VEGFC, WFS1, NSD2, NELFA, ZNF141, SLBP, GLRA3, ACOX3, SPARCL1, SMARCA5, SORBS2, PRSS12, CPZ, NOP14, FAM193A, USO1, UNC5C, LAMTOR3, PDE5A, SLC4A4, SAP30, INPP4B, PROM1, HERC3, PHOX2B, SNORD73A, STBD1, CDKL2, PAPSS1, LDB2, LRAT, AIMP1, NDST3, SLIT2, RAB28, TMPRSS11D, ABCG2, HAND2, ADAMTS3, CLOCK, CEP135, RAPGEF2, KIAA0232, MFAP3L, SEC24D, G3BP2, WDR1, HS3ST1, FGFBP1, HNRNPDL, TSPAN5, ENAM, LINC01587, FAM13A, MFSD10, SPRY1, MAEA, TLR6, PCGF3, ANAPC10, ATP8A1, SPON2, PGRMC2, SEC24B, TACC3, SLC30A9, CXCL13, SLC34A2, MAB21L2, PAICS, MXD4, PDLIM5, RRH, CORIN, UGT2B11, PLK4, PTTG2, CPLX1, HPSE, SLC26A1, NMU, SMR3B, NPFFR2, PPARGC1A, UGT2A1, CCNI, LIAS, ADAM29, PRDM5, LSM6, NUDT6, ANXA10, KLHL2, SCRG1, HSPA4L, SEC31A, RUFY3, MMRN1, LIMCH1, WDFY3, PALLD, DCUN1D4, TBC1D9, METAP1, TBC1D1, SEL1L3, TMEM131L, PDS5A, ADGRL3, TRIM2, MAN2B2, ANP32C, SLC7A11, NOCT, PARM1, FAM149A, RCHY1, ANKRD17, STAP1, FBXL5, FBXO8, CHIC2, SMR3A, NSG1, PPA2, DAPP1, DKK2, FAM184B, INTU, NAAA, GPR78, COQ2, ARFIP1, SULT1B1, PDLIM3, HPGDS, ZNF330, TMPRSS11E, ZCCHC4, ANAPC4, SPOCK3, MRPS18C, LAP3, KLHL5, SEPSECS, COPS4, AADAT, HSD17B11, LEF1, HERC5, KLF3, GASK1B, PLAC8, LARP7, EMCN, MYOZ2, ASIC5, GALNT7, NUDT9, NUP54, STX18, FGFRL1, CLDN22, CYTL1, GAR1, SH3TC1, UGT2B28, RBM47, PCDH18, USP53, OTUD4, NKX1-1, TET2, DCHS2, ARHGEF38, PIGG, DCAF16, OCIAD1, COMMD8, ODAM, HPF1, HERC6, MCUB, MARCH1, BANK1, LARP1B, SDAD1, TMEM33, LGI2, BBS7, UBA6, NEIL3, PGM2, C4orf19, FBXW7, TBC1D19, PI4K2B, TMEM144, TMA16, UFSP2, BLOC1S4, ZGRF1, STK32B, AP1AR, MAML3, CHRNA9, BMP2K, DDX60, CDKN2AIP, LYAR, TENM3, N4BP2, TMEM184C, SEPTIN11, EXOC1, LRP2BP, TMEM165, PDGFC, SLC2A9, FSTL5, BDH2, SMARCAD1, MEPE, STOX2, PRDM8, UTP3, INTS12, ANKRD50, ATP10D, DANCR, KIAA1211, RNF150, NWD2, TBC1D14, SORCS2, CC2D2A, KLHL8, PCDH10, CFAP97, FNIP2, SLAIN2, SHROOM3, STIM2, SH3RF1, UVSSA, METTL14, WDR19, ZFYVE28, GBA3, ENOPH1, OPRPN, OSTC, IL21, RXFP1, AFAP1, GUF1, SPCS3, SCOC, TRAPPC11, NEUROG2, SLC39A8, NCAPG, HHIP, NDST4, ETNPPL, USP46, MRPL1, RASL11B, ELOVL6, TNIP2, HAUS3, NDNF, FAT4, ARSJ, SRD5A3, ARHGAP10, CENPU, THAP9, NSUN7, UGT2A3, GSTCD, MAP9, TNIP3, JADE1, SCD5, DNAJB14, TMEM156, WWC2, FRAS1, NAA15, CWH43, ABHD18, ALPK1, GRPEL1, MED28, CXXC4, KCNIP4, CEP44, SETD7, PLA2G12A, FIP1L1, TLR10, SLC25A31, RAB33B, ARHGAP24, FGFBP2, SNX25, TTC29, MND1, SLC10A7, TKTL2, C4orf17, QRFPR, ABRAXAS1, KIAA1109, SLC49A3, NOA1, TMEM175, ABLIM2, HOPX, COL25A1, USP38, LNX1, MGARP, NAA11, GPAT3, CBR4, PIGY, TMEM128, CABS1, ZNF518B, FHDC1, PRMT9, CCDC149, DDX60L, YTHDC1, TMEM129, NAF1, MOB1B, TIFA, FAM114A1, TRMT10A, MRFAP1, TADA2B, TBCK, HTRA3, HELQ, CYP2U1, C1QTNF7, MRFAP1L1, DDIT4L, CLNK, WDR17, ARAP2, PCAT4, ANTXR2, OCIAD2, SCLT1, C4orf33, TMEM155, PABPC4L, ADAD1, ZFP42, LIN54, SPATA18, FAM241A, TMPRSS11B, GNPDA2, SPATA4, CPEB2, EVC2, ARL9, AASDH, PDCL2, C4orf36, PACRGL, TRAM1L1, OTOP1, ENPP6, SLC9B2, ASB5, SLC9B1, ZNF827, SH3D19, NFXL1, NIPAL1, PAQR3, SHISA3, SCFD2, MGAT4D, ZNF595, FAM218A, JAKMIP1, THAP6, ODAPH, KLB, FAM53A, PPM1K, C4orf45, TRMT44, RASGEF1B, SPATA5, BBS12, DCLK2, ADGRA3, TRIM60, FREM3, MMAA, ZBTB49, TIGD2, RASSF6, RBM46, SGMS2, COX7B2, GSX2, ZNF721, SYNPO2, C4orf46, SLC10A4, TIGD4, TMEM154, SMIM14, TMEM192, RWDD4, PRIMPOL, TAPT1, TRIML2, CNOT6L, TECRL, LCORL, CFAP299, EPGN, ZNF718, ELMOD2, NPNT, CCDC110, MFSD8, CCDC96, BOD1L1, FDCSP, NAP1L5, DCAF4L1, CYP4V2, CRIPAK, DOK7, RNF212, FAM13A-AS1, GPRIN3, COX18, YIPF7, FRYL, RNF175, FAM200B, STPG2, ZAR1, CCDC158, TMPRSS11A, TRIML1, LRRC66, NAT8L, PRSS48, SOWAHB, LRIT3, MSANTD1, SLC10A6, HSD17B13, ANKRD37, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, TMPRSS11F, TRIM61, HELT, C4orf48, DTHD1, PRR27, AMTN, CCSER1, C4orf3, MIR302A, MIR95, MTHFD2L, TMEM150C, C4orf47, GALNTL6, MIR302B, MIR302C, MIR302D, MIR367, FRG2, CISD2, UGT2A2, DEFB131A, CLRN2, C4orf51, ZNF732, SNORA26, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, FAM160A1, RELL1, PSAPL1, SNHG8, FAM47E, CLDN24, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, ERVMER34-1, USP17L15, THEGL, GIMD1, SEC24B-AS1, MIR4449, FAM47E-STBD1, PYURF, ADD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFM, AFP, AGA, ALB, AMBN, ANK2, SLC25A4, ANXA3, ANXA5, APBB2, AREG, RHOH, ART3, ATOH1, ATP5ME, NKX3-2, BMP3, BMPR1B, BST1, BTC, CAMK2D, CASP3, CASP6, CCKAR, CCNA2, CCNG2, SCARB2, CD38, LRBA, CDS1, CLGN, CENPC, CENPE, CLCN3, CNGA1, CPE, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, DGKQ, DCK, DCTD, DHX15, DMP1, DRD5, DSPP, EDNRA, EGF, EIF4E, ELF2, ENPEP, EPHA5, EREG, ETFDH, EVC, F11, FABP2, ACSL1, FAT1, FGA, FGB, FGF2, FGF5, FGFR3, FGG, FRG1, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GC, GK2, GLRB, GNRHR, GPM6A, GRK4, GRIA2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, H2AFZ, HADH, HTT, HGFAC, UBE2K, HMGB2, HMX1, HNRNPD, HPGD, HTN1, HTN3, IBSP, IDUA, CFI, IGFBP7, JCHAIN, RBPJ, IL2, CXCL8, IL15, ING2, CXCL10, IRF2, KDR, KIT, KLKB1, LETM1, LRPAP1, MAD2L1, SMAD1, MANBA, MGST2, CXCL9, AFF1, NR3C2, MSX1, MTNR1A, MTTP, MUC7, MYL5, NDUFC1, NEK1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
5.
GRCh37:
Chr4:49450-190915650
ADD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFM, AFP, AGA, ALB, AMBN, ANK2, SLC25A4, ANXA3, ANXA5, APBB2, AREG, RHOH, ART3, ATOH1, ATP5ME, NKX3-2, BMP3, BMPR1B, BST1, BTC, CAMK2D, CASP3, CASP6, CCKAR, CCNA2, CCNG2, SCARB2, CD38, LRBA, CDS1, CLGN, CENPC, CENPE, CLCN3, CNGA1, CPE, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, DGKQ, DCK, DCTD, DHX15, DMP1, DRD5, DSPP, EDNRA, EGF, EIF4E, ELF2, ENPEP, EPHA5, EREG, ETFDH, EVC, F11, FABP2, ACSL1, FAT1, FGA, FGB, FGF2, FGF5, FGFR3, FGG, FRG1, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GC, GK2, GLRB, GNRHR, GPM6A, GRK4, GRIA2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, H2AFZ, HADH, HTT, HGFAC, UBE2K, HMGB2, HMX1, HNRNPD, HPGD, HTN1, HTN3, IBSP, IDUA, CFI, IGFBP7, JCHAIN, RBPJ, IL2, CXCL8, IL15, ING2, CXCL10, IRF2, KDR, KIT, KLKB1, LETM1, LRPAP1, MAD2L1, SMAD1, MANBA, MGST2, CXCL9, AFF1, NR3C2, MSX1, MTNR1A, MTTP, MUC7, MYL5, NDUFC1, NEK1, NFKB1, NKX6-1, NPY1R, NPY2R, NPY5R, PCDH7, PDGFRA, PDE6B, PDHA2, GATB, PF4, PF4V1, PITX2, PKD2, PLRG1, EXOSC9, POLR2B, POU4F2, PPEF2, PPAT, PPBP, PPID, PPP2R2C, PPP3CA, PRKG2, MAPK10, PTPN13, QDPR, RAP1GDS1, REST, RFC1, RGS12, RNF4, ABCE1, RPL9, RPL34, RPS3A, S100P, MSMO1, CXCL6, CXCL11, CXCL5, SFRP2, SGCB, SH3BP2, SNCA, SOD3, SPINK2, SPP1, SRP72, STATH, SULT1E1, TACR3, TDO2, TEC, TLL1, TLR1, TLR2, TLR3, TRPC3, TXK, UBE2D3, UCHL1, UCP1, UGDH, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, UGT8, VEGFC, WFS1, NSD2, NELFA, ZNF141, SLBP, GLRA3, ACOX3, SPARCL1, SMARCA5, SORBS2, PRSS12, CPZ, NOP14, FAM193A, USO1, UNC5C, LAMTOR3, PDE5A, SLC4A4, SAP30, INPP4B, PROM1, HERC3, PHOX2B, SNORD73A, STBD1, CDKL2, PAPSS1, LDB2, LRAT, AIMP1, NDST3, SLIT2, RAB28, TMPRSS11D, ABCG2, HAND2, ADAMTS3, CLOCK, CEP135, RAPGEF2, KIAA0232, MFAP3L, SEC24D, G3BP2, WDR1, HS3ST1, FGFBP1, HNRNPDL, TSPAN5, ENAM, LINC01587, FAM13A, MFSD10, SPRY1, MAEA, TLR6, PCGF3, ANAPC10, ATP8A1, SPON2, PGRMC2, SEC24B, TACC3, SLC30A9, CXCL13, SLC34A2, MAB21L2, PAICS, MXD4, PDLIM5, RRH, CORIN, UGT2B11, PLK4, PTTG2, CPLX1, HPSE, SLC26A1, NMU, SMR3B, NPFFR2, PPARGC1A, UGT2A1, CCNI, LIAS, ADAM29, PRDM5, LSM6, NUDT6, ANXA10, KLHL2, SCRG1, HSPA4L, SEC31A, RUFY3, MMRN1, LIMCH1, WDFY3, PALLD, DCUN1D4, TBC1D9, METAP1, TBC1D1, SEL1L3, TMEM131L, PDS5A, ADGRL3, TRIM2, MAN2B2, ANP32C, SLC7A11, NOCT, PARM1, FAM149A, RCHY1, ANKRD17, STAP1, FBXL5, FBXO8, CHIC2, SMR3A, NSG1, PPA2, DAPP1, DKK2, FAM184B, INTU, NAAA, GPR78, COQ2, ARFIP1, SULT1B1, PDLIM3, HPGDS, ZNF330, TMPRSS11E, ZCCHC4, ANAPC4, SPOCK3, MRPS18C, LAP3, KLHL5, SEPSECS, COPS4, AADAT, HSD17B11, LEF1, HERC5, KLF3, GASK1B, PLAC8, LARP7, EMCN, MYOZ2, ASIC5, GALNT7, NUDT9, NUP54, STX18, FGFRL1, CLDN22, CYTL1, GAR1, SH3TC1, UGT2B28, RBM47, PCDH18, USP53, OTUD4, NKX1-1, TET2, DCHS2, ARHGEF38, PIGG, DCAF16, OCIAD1, COMMD8, ODAM, HPF1, HERC6, MCUB, MARCH1, BANK1, LARP1B, SDAD1, TMEM33, LGI2, BBS7, UBA6, NEIL3, PGM2, C4orf19, FBXW7, TBC1D19, PI4K2B, TMEM144, TMA16, UFSP2, BLOC1S4, ZGRF1, STK32B, AP1AR, MAML3, CHRNA9, BMP2K, DDX60, CDKN2AIP, LYAR, TENM3, N4BP2, TMEM184C, SEPTIN11, EXOC1, LRP2BP, TMEM165, PDGFC, SLC2A9, FSTL5, BDH2, SMARCAD1, MEPE, STOX2, PRDM8, UTP3, INTS12, ANKRD50, ATP10D, DANCR, KIAA1211, RNF150, NWD2, TBC1D14, SORCS2, CC2D2A, KLHL8, PCDH10, CFAP97, FNIP2, SLAIN2, SHROOM3, STIM2, SH3RF1, UVSSA, METTL14, WDR19, ZFYVE28, GBA3, ENOPH1, OPRPN, OSTC, IL21, RXFP1, AFAP1, GUF1, SPCS3, SCOC, TRAPPC11, NEUROG2, SLC39A8, NCAPG, HHIP, NDST4, ETNPPL, USP46, MRPL1, RASL11B, ELOVL6, TNIP2, HAUS3, NDNF, FAT4, ARSJ, SRD5A3, ARHGAP10, CENPU, THAP9, NSUN7, UGT2A3, GSTCD, MAP9, TNIP3, JADE1, SCD5, DNAJB14, TMEM156, WWC2, FRAS1, NAA15, CWH43, ABHD18, ALPK1, GRPEL1, MED28, CXXC4, KCNIP4, CEP44, SETD7, PLA2G12A, FIP1L1, TLR10, SLC25A31, RAB33B, ARHGAP24, FGFBP2, SNX25, TTC29, MND1, SLC10A7, TKTL2, C4orf17, QRFPR, ABRAXAS1, KIAA1109, SLC49A3, NOA1, TMEM175, ABLIM2, HOPX, COL25A1, USP38, LNX1, MGARP, NAA11, GPAT3, CBR4, PIGY, TMEM128, CABS1, ZNF518B, FHDC1, PRMT9, CCDC149, DDX60L, YTHDC1, TMEM129, NAF1, MOB1B, TIFA, FAM114A1, TRMT10A, MRFAP1, TADA2B, TBCK, HTRA3, HELQ, CYP2U1, C1QTNF7, MRFAP1L1, DDIT4L, CLNK, WDR17, ARAP2, PCAT4, ANTXR2, OCIAD2, SCLT1, C4orf33, TMEM155, PABPC4L, ADAD1, ZFP42, LIN54, SPATA18, FAM241A, TMPRSS11B, GNPDA2, SPATA4, CPEB2, EVC2, ARL9, AASDH, PDCL2, C4orf36, PACRGL, TRAM1L1, OTOP1, ENPP6, SLC9B2, ASB5, SLC9B1, ZNF827, SH3D19, NFXL1, NIPAL1, PAQR3, SHISA3, SCFD2, MGAT4D, ZNF595, FAM218A, JAKMIP1, THAP6, ODAPH, KLB, FAM53A, PPM1K, C4orf45, TRMT44, RASGEF1B, SPATA5, BBS12, DCLK2, ADGRA3, TRIM60, FREM3, MMAA, ZBTB49, TIGD2, RASSF6, RBM46, SGMS2, COX7B2, GSX2, ZNF721, SYNPO2, C4orf46, SLC10A4, TIGD4, TMEM154, SMIM14, TMEM192, RWDD4, PRIMPOL, TAPT1, TRIML2, CNOT6L, TECRL, LCORL, CFAP299, EPGN, ZNF718, ELMOD2, NPNT, CCDC110, MFSD8, CCDC96, BOD1L1, FDCSP, NAP1L5, DCAF4L1, CYP4V2, CRIPAK, DOK7, RNF212, FAM13A-AS1, GPRIN3, COX18, YIPF7, FRYL, RNF175, FAM200B, STPG2, ZAR1, CCDC158, TMPRSS11A, TRIML1, LRRC66, NAT8L, PRSS48, SOWAHB, LRIT3, MSANTD1, SLC10A6, HSD17B13, ANKRD37, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, TMPRSS11F, TRIM61, HELT, C4orf48, DTHD1, PRR27, AMTN, CCSER1, C4orf3, MIR302A, MIR95, MTHFD2L, TMEM150C, C4orf47, GALNTL6, MIR302B, MIR302C, MIR302D, MIR367, CISD2, UGT2A2, DEFB131A, CLRN2, C4orf51, ZNF732, SNORA26, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, FAM160A1, RELL1, PSAPL1, SNHG8, FAM47E, CLDN24, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, ERVMER34-1, USP17L15, THEGL, GIMD1, SEC24B-AS1, MIR4449, FAM47E-STBD1, PYURF
not providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
6.
GRCh37:
Chr4:11525-191028879
GPR78, COQ2, ARFIP1, SULT1B1, PDLIM3, HPGDS, ZNF330, TMPRSS11E, ZCCHC4, ANAPC4, SPOCK3, MRPS18C, LAP3, KLHL5, SEPSECS, COPS4, AADAT, HSD17B11, LEF1, HERC5, KLF3, GASK1B, PLAC8, LARP7, EMCN, MYOZ2, ASIC5, GALNT7, NUDT9, NUP54, STX18, FGFRL1, CLDN22, CYTL1, GAR1, SH3TC1, UGT2B28, RBM47, PCDH18, USP53, OTUD4, NKX1-1, TET2, DCHS2, ARHGEF38, PIGG, DCAF16, OCIAD1, COMMD8, ODAM, HPF1, HERC6, MCUB, MARCH1, BANK1, LARP1B, SDAD1, TMEM33, LGI2, BBS7, UBA6, NEIL3, PGM2, C4orf19, FBXW7, TBC1D19, PI4K2B, TMEM144, TMA16, UFSP2, BLOC1S4, ZGRF1, STK32B, AP1AR, MAML3, CHRNA9, BMP2K, DDX60, CDKN2AIP, LYAR, TENM3, N4BP2, TMEM184C, SEPTIN11, EXOC1, LRP2BP, TMEM165, PDGFC, SLC2A9, FSTL5, BDH2, SMARCAD1, MEPE, STOX2, PRDM8, UTP3, INTS12, ANKRD50, ATP10D, DANCR, KIAA1211, RNF150, NWD2, TBC1D14, SORCS2, CC2D2A, KLHL8, PCDH10, CFAP97, FNIP2, SLAIN2, SHROOM3, STIM2, SH3RF1, UVSSA, METTL14, WDR19, ZFYVE28, GBA3, ENOPH1, OPRPN, OSTC, IL21, RXFP1, AFAP1, GUF1, SPCS3, SCOC, TRAPPC11, NEUROG2, SLC39A8, NCAPG, HHIP, NDST4, ETNPPL, USP46, MRPL1, RASL11B, ELOVL6, TNIP2, HAUS3, NDNF, FAT4, ARSJ, SRD5A3, ARHGAP10, CENPU, THAP9, NSUN7, UGT2A3, GSTCD, MAP9, TNIP3, JADE1, SCD5, DNAJB14, TMEM156, WWC2, FRAS1, NAA15, CWH43, ABHD18, ALPK1, GRPEL1, MED28, CXXC4, KCNIP4, CEP44, SETD7, PLA2G12A, FIP1L1, TLR10, SLC25A31, RAB33B, ARHGAP24, FGFBP2, SNX25, TTC29, MND1, SLC10A7, TKTL2, C4orf17, QRFPR, ABRAXAS1, KIAA1109, SLC49A3, NOA1, TMEM175, ABLIM2, HOPX, COL25A1, USP38, LNX1, MGARP, NAA11, GPAT3, CBR4, PIGY, TMEM128, CABS1, ZNF518B, FHDC1, PRMT9, CCDC149, DDX60L, YTHDC1, TMEM129, NAF1, MOB1B, TIFA, FAM114A1, TRMT10A, MRFAP1, TADA2B, TBCK, HTRA3, HELQ, CYP2U1, C1QTNF7, MRFAP1L1, DDIT4L, CLNK, WDR17, ARAP2, PCAT4, ANTXR2, OCIAD2, SCLT1, C4orf33, TMEM155, PABPC4L, ADAD1, ZFP42, LIN54, SPATA18, FAM241A, TMPRSS11B, GNPDA2, SPATA4, CPEB2, EVC2, ARL9, AASDH, PDCL2, C4orf36, PACRGL, TRAM1L1, OTOP1, ENPP6, SLC9B2, ASB5, SLC9B1, ZNF827, SH3D19, NFXL1, NIPAL1, PAQR3, SHISA3, SCFD2, MGAT4D, ZNF595, FAM218A, JAKMIP1, THAP6, ODAPH, KLB, FAM53A, PPM1K, C4orf45, TRMT44, RASGEF1B, SPATA5, BBS12, DCLK2, ADGRA3, TRIM60, FREM3, MMAA, ZBTB49, TIGD2, RASSF6, RBM46, SGMS2, COX7B2, GSX2, ZNF721, SYNPO2, C4orf46, SLC10A4, TIGD4, TMEM154, SMIM14, TMEM192, RWDD4, PRIMPOL, TAPT1, TRIML2, CNOT6L, TECRL, LCORL, CFAP299, EPGN, ZNF718, ELMOD2, NPNT, CCDC110, MFSD8, CCDC96, BOD1L1, FDCSP, NAP1L5, DCAF4L1, CYP4V2, CRIPAK, DOK7, RNF212, FAM13A-AS1, GPRIN3, COX18, YIPF7, FRYL, RNF175, FAM200B, STPG2, ZAR1, CCDC158, TMPRSS11A, TRIML1, LRRC66, NAT8L, PRSS48, SOWAHB, LRIT3, MSANTD1, SLC10A6, HSD17B13, ANKRD37, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, TMPRSS11F, TRIM61, HELT, C4orf48, DTHD1, PRR27, AMTN, CCSER1, C4orf3, MIR302A, MIR95, MTHFD2L, TMEM150C, C4orf47, GALNTL6, MIR302B, MIR302C, MIR302D, MIR367, FRG2, CISD2, UGT2A2, DEFB131A, CLRN2, C4orf51, ZNF732, SNORA26, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, FAM160A1, RELL1, PSAPL1, SNHG8, FAM47E, CLDN24, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, ERVMER34-1, USP17L15, THEGL, GIMD1, SEC24B-AS1, MIR4449, FAM47E-STBD1, PYURF, ADD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFM, AFP, AGA, ALB, AMBN, ANK2, SLC25A4, ANXA3, ANXA5, APBB2, AREG, RHOH, ART3, ATOH1, ATP5ME, NKX3-2, BMP3, BMPR1B, BST1, BTC, CAMK2D, CASP3, CASP6, CCKAR, CCNA2, CCNG2, SCARB2, CD38, LRBA, CDS1, CLGN, CENPC, CENPE, CLCN3, CNGA1, CPE, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, DGKQ, DCK, DCTD, DHX15, DMP1, DRD5, DSPP, EDNRA, EGF, EIF4E, ELF2, ENPEP, EPHA5, EREG, ETFDH, EVC, F11, FABP2, ACSL1, FAT1, FGA, FGB, FGF2, FGF5, FGFR3, FGG, FRG1, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GC, GK2, GLRB, GNRHR, GPM6A, GRK4, GRIA2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, H2AFZ, HADH, HTT, HGFAC, UBE2K, HMGB2, HMX1, HNRNPD, HPGD, HTN1, HTN3, IBSP, IDUA, CFI, IGFBP7, JCHAIN, RBPJ, IL2, CXCL8, IL15, ING2, CXCL10, IRF2, KDR, KIT, KLKB1, LETM1, LRPAP1, MAD2L1, SMAD1, MANBA, MGST2, CXCL9, AFF1, NR3C2, MSX1, MTNR1A, MTTP, MUC7, MYL5, NDUFC1, NEK1, NFKB1, NKX6-1, NPY1R, NPY2R, NPY5R, PCDH7, PDGFRA, PDE6B, PDHA2, GATB, PF4, PF4V1, PITX2, PKD2, PLRG1, EXOSC9, POLR2B, POU4F2, PPEF2, PPAT, PPBP, PPID, PPP2R2C, PPP3CA, PRKG2, MAPK10, PTPN13, QDPR, RAP1GDS1, REST, RFC1, RGS12, RNF4, ABCE1, RPL9, RPL34, RPS3A, S100P, MSMO1, CXCL6, CXCL11, CXCL5, SFRP2, SGCB, SH3BP2, SNCA, SOD3, SPINK2, SPP1, SRP72, STATH, SULT1E1, TACR3, TDO2, TEC, TLL1, TLR1, TLR2, TLR3, TRPC3, TXK, UBE2D3, UCHL1, UCP1, UGDH, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, UGT8, VEGFC, WFS1, NSD2, NELFA, ZNF141, SLBP, GLRA3, ACOX3, SPARCL1, SMARCA5, SORBS2, PRSS12, CPZ, NOP14, FAM193A, USO1, UNC5C, LAMTOR3, PDE5A, SLC4A4, SAP30, INPP4B, PROM1, HERC3, PHOX2B, SNORD73A, STBD1, CDKL2, PAPSS1, LDB2, LRAT, AIMP1, NDST3, SLIT2, RAB28, TMPRSS11D, ABCG2, HAND2, ADAMTS3, CLOCK, CEP135, RAPGEF2, KIAA0232, MFAP3L, SEC24D, G3BP2, WDR1, HS3ST1, FGFBP1, HNRNPDL, TSPAN5, ENAM, LINC01587, FAM13A, MFSD10, SPRY1, MAEA, TLR6, PCGF3, ANAPC10, ATP8A1, SPON2, PGRMC2, SEC24B, TACC3, SLC30A9, CXCL13, SLC34A2, MAB21L2, PAICS, MXD4, PDLIM5, RRH, CORIN, UGT2B11, PLK4, PTTG2, CPLX1, HPSE, SLC26A1, NMU, SMR3B, NPFFR2, PPARGC1A, UGT2A1, CCNI, LIAS, ADAM29, PRDM5, LSM6, NUDT6, ANXA10, KLHL2, SCRG1, HSPA4L, SEC31A, RUFY3, MMRN1, LIMCH1, WDFY3, PALLD, DCUN1D4, TBC1D9, METAP1, TBC1D1, SEL1L3, TMEM131L, PDS5A, ADGRL3, TRIM2, MAN2B2, ANP32C, SLC7A11, NOCT, PARM1, FAM149A, RCHY1, ANKRD17, STAP1, FBXL5, FBXO8, CHIC2, SMR3A, NSG1, PPA2, DAPP1, DKK2, FAM184B, INTU, NAAA
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
7.
GRCh37:
Chr4:64705501-73469716
not providedPathogenic
(Mar 5, 2018)
no assertion criteria provided
8.
GRCh37:
Chr4:66017575-76772947
See casesPathogenic
(Oct 10, 2014)
no assertion criteria provided
9.
GRCh37:
Chr4:68346-190957473
SLC30A9, CXCL13, SLC34A2, MAB21L2, PAICS, MXD4, PDLIM5, RRH, CORIN, UGT2B11, PLK4, PTTG2, CPLX1, HPSE, SLC26A1, NMU, SMR3B, NPFFR2, PPARGC1A, UGT2A1, CCNI, LIAS, ADAM29, PRDM5, LSM6, NUDT6, ANXA10, KLHL2, SCRG1, HSPA4L, SEC31A, RUFY3, MMRN1, LIMCH1, WDFY3, PALLD, DCUN1D4, TBC1D9, METAP1, TBC1D1, SEL1L3, TMEM131L, PDS5A, ADGRL3, TRIM2, MAN2B2, ANP32C, SLC7A11, NOCT, PARM1, FAM149A, RCHY1, ANKRD17, STAP1, FBXL5, FBXO8, CHIC2, SMR3A, NSG1, PPA2, DAPP1, DKK2, FAM184B, INTU, NAAA, GPR78, COQ2, ARFIP1, SULT1B1, PDLIM3, HPGDS, ZNF330, TMPRSS11E, ZCCHC4, ANAPC4, SPOCK3, MRPS18C, LAP3, KLHL5, SEPSECS, COPS4, AADAT, HSD17B11, LEF1, HERC5, KLF3, GASK1B, PLAC8, LARP7, EMCN, MYOZ2, ASIC5, GALNT7, NUDT9, NUP54, STX18, FGFRL1, CLDN22, CYTL1, GAR1, SH3TC1, UGT2B28, RBM47, PCDH18, USP53, OTUD4, NKX1-1, TET2, DCHS2, ARHGEF38, PIGG, DCAF16, OCIAD1, COMMD8, ODAM, HPF1, HERC6, MCUB, MARCH1, BANK1, LARP1B, SDAD1, TMEM33, LGI2, BBS7, UBA6, NEIL3, PGM2, C4orf19, FBXW7, TBC1D19, PI4K2B, TMEM144, TMA16, UFSP2, BLOC1S4, ZGRF1, STK32B, AP1AR, MAML3, CHRNA9, BMP2K, DDX60, CDKN2AIP, LYAR, TENM3, N4BP2, TMEM184C, SEPTIN11, EXOC1, LRP2BP, TMEM165, PDGFC, SLC2A9, FSTL5, BDH2, SMARCAD1, MEPE, STOX2, PRDM8, UTP3, INTS12, ANKRD50, ATP10D, DANCR, KIAA1211, RNF150, NWD2, TBC1D14, SORCS2, CC2D2A, KLHL8, PCDH10, CFAP97, FNIP2, SLAIN2, SHROOM3, STIM2, SH3RF1, UVSSA, METTL14, WDR19, ZFYVE28, GBA3, ENOPH1, OPRPN, OSTC, IL21, RXFP1, AFAP1, GUF1, SPCS3, SCOC, TRAPPC11, NEUROG2, SLC39A8, NCAPG, HHIP, NDST4, ETNPPL, USP46, MRPL1, RASL11B, ELOVL6, TNIP2, HAUS3, NDNF, FAT4, ARSJ, SRD5A3, ARHGAP10, CENPU, THAP9, NSUN7, UGT2A3, GSTCD, MAP9, TNIP3, JADE1, SCD5, DNAJB14, TMEM156, WWC2, FRAS1, NAA15, CWH43, ABHD18, ALPK1, GRPEL1, MED28, CXXC4, KCNIP4, CEP44, SETD7, PLA2G12A, FIP1L1, TLR10, SLC25A31, RAB33B, ARHGAP24, FGFBP2, SNX25, TTC29, MND1, SLC10A7, TKTL2, C4orf17, QRFPR, ABRAXAS1, KIAA1109, SLC49A3, NOA1, TMEM175, ABLIM2, HOPX, COL25A1, USP38, LNX1, MGARP, NAA11, GPAT3, CBR4, PIGY, TMEM128, CABS1, ZNF518B, FHDC1, PRMT9, CCDC149, DDX60L, YTHDC1, TMEM129, NAF1, MOB1B, TIFA, FAM114A1, TRMT10A, MRFAP1, TADA2B, TBCK, HTRA3, HELQ, CYP2U1, C1QTNF7, MRFAP1L1, DDIT4L, CLNK, WDR17, ARAP2, PCAT4, ANTXR2, OCIAD2, SCLT1, C4orf33, TMEM155, PABPC4L, ADAD1, ZFP42, LIN54, SPATA18, FAM241A, TMPRSS11B, GNPDA2, SPATA4, CPEB2, EVC2, ARL9, AASDH, PDCL2, C4orf36, PACRGL, TRAM1L1, OTOP1, ENPP6, SLC9B2, ASB5, SLC9B1, ZNF827, SH3D19, NFXL1, NIPAL1, PAQR3, SHISA3, SCFD2, MGAT4D, ZNF595, FAM218A, JAKMIP1, THAP6, ODAPH, KLB, FAM53A, PPM1K, C4orf45, TRMT44, RASGEF1B, SPATA5, BBS12, DCLK2, ADGRA3, TRIM60, FREM3, MMAA, ZBTB49, TIGD2, RASSF6, RBM46, SGMS2, COX7B2, GSX2, ZNF721, SYNPO2, C4orf46, SLC10A4, TIGD4, TMEM154, SMIM14, TMEM192, RWDD4, PRIMPOL, TAPT1, TRIML2, CNOT6L, TECRL, LCORL, CFAP299, EPGN, ZNF718, ELMOD2, NPNT, CCDC110, MFSD8, CCDC96, BOD1L1, FDCSP, NAP1L5, DCAF4L1, CYP4V2, CRIPAK, DOK7, RNF212, FAM13A-AS1, GPRIN3, COX18, YIPF7, FRYL, RNF175, FAM200B, STPG2, ZAR1, CCDC158, TMPRSS11A, TRIML1, LRRC66, NAT8L, PRSS48, SOWAHB, LRIT3, MSANTD1, SLC10A6, HSD17B13, ANKRD37, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, TMPRSS11F, TRIM61, HELT, C4orf48, DTHD1, PRR27, AMTN, CCSER1, C4orf3, MIR302A, MIR95, MTHFD2L, TMEM150C, C4orf47, GALNTL6, MIR302B, MIR302C, MIR302D, MIR367, FRG2, CISD2, UGT2A2, DEFB131A, CLRN2, C4orf51, ZNF732, SNORA26, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, FAM160A1, RELL1, PSAPL1, SNHG8, FAM47E, CLDN24, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, ERVMER34-1, USP17L15, THEGL, GIMD1, SEC24B-AS1, MIR4449, FAM47E-STBD1, PYURF, ADD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFM, AFP, AGA, ALB, AMBN, ANK2, SLC25A4, ANXA3, ANXA5, APBB2, AREG, RHOH, ART3, ATOH1, ATP5ME, NKX3-2, BMP3, BMPR1B, BST1, BTC, CAMK2D, CASP3, CASP6, CCKAR, CCNA2, CCNG2, SCARB2, CD38, LRBA, CDS1, CLGN, CENPC, CENPE, CLCN3, CNGA1, CPE, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, DGKQ, DCK, DCTD, DHX15, DMP1, DRD5, DSPP, EDNRA, EGF, EIF4E, ELF2, ENPEP, EPHA5, EREG, ETFDH, EVC, F11, FABP2, ACSL1, FAT1, FGA, FGB, FGF2, FGF5, FGFR3, FGG, FRG1, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GC, GK2, GLRB, GNRHR, GPM6A, GRK4, GRIA2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, H2AFZ, HADH, HTT, HGFAC, UBE2K, HMGB2, HMX1, HNRNPD, HPGD, HTN1, HTN3, IBSP, IDUA, CFI, IGFBP7, JCHAIN, RBPJ, IL2, CXCL8, IL15, ING2, CXCL10, IRF2, KDR, KIT, KLKB1, LETM1, LRPAP1, MAD2L1, SMAD1, MANBA, MGST2, CXCL9, AFF1, NR3C2, MSX1, MTNR1A, MTTP, MUC7, MYL5, NDUFC1, NEK1, NFKB1, NKX6-1, NPY1R, NPY2R, NPY5R, PCDH7, PDGFRA, PDE6B, PDHA2, GATB, PF4, PF4V1, PITX2, PKD2, PLRG1, EXOSC9, POLR2B, POU4F2, PPEF2, PPAT, PPBP, PPID, PPP2R2C, PPP3CA, PRKG2, MAPK10, PTPN13, QDPR, RAP1GDS1, REST, RFC1, RGS12, RNF4, ABCE1, RPL9, RPL34, RPS3A, S100P, MSMO1, CXCL6, CXCL11, CXCL5, SFRP2, SGCB, SH3BP2, SNCA, SOD3, SPINK2, SPP1, SRP72, STATH, SULT1E1, TACR3, TDO2, TEC, TLL1, TLR1, TLR2, TLR3, TRPC3, TXK, UBE2D3, UCHL1, UCP1, UGDH, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, UGT8, VEGFC, WFS1, NSD2, NELFA, ZNF141, SLBP, GLRA3, ACOX3, SPARCL1, SMARCA5, SORBS2, PRSS12, CPZ, NOP14, FAM193A, USO1, UNC5C, LAMTOR3, PDE5A, SLC4A4, SAP30, INPP4B, PROM1, HERC3, PHOX2B, SNORD73A, STBD1, CDKL2, PAPSS1, LDB2, LRAT, AIMP1, NDST3, SLIT2, RAB28, TMPRSS11D, ABCG2, HAND2, ADAMTS3, CLOCK, CEP135, RAPGEF2, KIAA0232, MFAP3L, SEC24D, G3BP2, WDR1, HS3ST1, FGFBP1, HNRNPDL, TSPAN5, ENAM, LINC01587, FAM13A, MFSD10, SPRY1, MAEA, TLR6, PCGF3, ANAPC10, ATP8A1, SPON2, PGRMC2, SEC24B, TACC3
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
10.
GRCh37:
Chr4:68346-190957473
ADD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFM, AFP, AGA, ALB, AMBN, ANK2, SLC25A4, ANXA3, ANXA5, APBB2, AREG, RHOH, ART3, ATOH1, ATP5ME, NKX3-2, BMP3, BMPR1B, BST1, BTC, CAMK2D, CASP3, CASP6, CCKAR, CCNA2, CCNG2, SCARB2, CD38, LRBA, CDS1, CLGN, CENPC, CENPE, CLCN3, CNGA1, CPE, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, DGKQ, DCK, DCTD, DHX15, DMP1, DRD5, DSPP, EDNRA, EGF, EIF4E, ELF2, ENPEP, EPHA5, EREG, ETFDH, EVC, F11, FABP2, ACSL1, FAT1, FGA, FGB, FGF2, FGF5, FGFR3, FGG, FRG1, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GC, GK2, GLRB, GNRHR, GPM6A, GRK4, GRIA2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, H2AFZ, HADH, HTT, HGFAC, UBE2K, HMGB2, HMX1, HNRNPD, HPGD, HTN1, HTN3, IBSP, IDUA, CFI, IGFBP7, JCHAIN, RBPJ, IL2, CXCL8, IL15, ING2, CXCL10, IRF2, KDR, KIT, KLKB1, LETM1, LRPAP1, MAD2L1, SMAD1, MANBA, MGST2, CXCL9, AFF1, NR3C2, MSX1, MTNR1A, MTTP, MUC7, MYL5, NDUFC1, NEK1, NFKB1, NKX6-1, NPY1R, NPY2R, NPY5R, PCDH7, PDGFRA, PDE6B, PDHA2, GATB, PF4, PF4V1, PITX2, PKD2, PLRG1, EXOSC9, POLR2B, POU4F2, PPEF2, PPAT, PPBP, PPID, PPP2R2C, PPP3CA, PRKG2, MAPK10, PTPN13, QDPR, RAP1GDS1, REST, RFC1, RGS12, RNF4, ABCE1, RPL9, RPL34, RPS3A, S100P, MSMO1, CXCL6, CXCL11, CXCL5, SFRP2, SGCB, SH3BP2, SNCA, SOD3, SPINK2, SPP1, SRP72, STATH, SULT1E1, TACR3, TDO2, TEC, TLL1, TLR1, TLR2, TLR3, TRPC3, TXK, UBE2D3, UCHL1, UCP1, UGDH, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, UGT8, VEGFC, WFS1, NSD2, NELFA, ZNF141, SLBP, GLRA3, ACOX3, SPARCL1, SMARCA5, SORBS2, PRSS12, CPZ, NOP14, FAM193A, USO1, UNC5C, LAMTOR3, PDE5A, SLC4A4, SAP30, INPP4B, PROM1, HERC3, PHOX2B, SNORD73A, STBD1, CDKL2, PAPSS1, LDB2, LRAT, AIMP1, NDST3, SLIT2, RAB28, TMPRSS11D, ABCG2, HAND2, ADAMTS3, CLOCK, CEP135, RAPGEF2, KIAA0232, MFAP3L, SEC24D, G3BP2, WDR1, HS3ST1, FGFBP1, HNRNPDL, TSPAN5, ENAM, LINC01587, FAM13A, MFSD10, SPRY1, MAEA, TLR6, PCGF3, ANAPC10, ATP8A1, SPON2, PGRMC2, SEC24B, TACC3, SLC30A9, CXCL13, SLC34A2, MAB21L2, PAICS, MXD4, PDLIM5, RRH, CORIN, UGT2B11, PLK4, PTTG2, CPLX1, HPSE, SLC26A1, NMU, SMR3B, NPFFR2, PPARGC1A, UGT2A1, CCNI, LIAS, ADAM29, PRDM5, LSM6, NUDT6, ANXA10, KLHL2, SCRG1, HSPA4L, SEC31A, RUFY3, MMRN1, LIMCH1, WDFY3, PALLD, DCUN1D4, TBC1D9, METAP1, TBC1D1, SEL1L3, TMEM131L, PDS5A, ADGRL3, TRIM2, MAN2B2, ANP32C, SLC7A11, NOCT, PARM1, FAM149A, RCHY1, ANKRD17, STAP1, FBXL5, FBXO8, CHIC2, SMR3A, NSG1, PPA2, DAPP1, DKK2, FAM184B, INTU, NAAA, GPR78, COQ2, ARFIP1, SULT1B1, PDLIM3, HPGDS, ZNF330, TMPRSS11E, ZCCHC4, ANAPC4, SPOCK3, MRPS18C, LAP3, KLHL5, SEPSECS, COPS4, AADAT, HSD17B11, LEF1, HERC5, KLF3, GASK1B, PLAC8, LARP7, EMCN, MYOZ2, ASIC5, GALNT7, NUDT9, NUP54, STX18, FGFRL1, CLDN22, CYTL1, GAR1, SH3TC1, UGT2B28, RBM47, PCDH18, USP53, OTUD4, NKX1-1, TET2, DCHS2, ARHGEF38, PIGG, DCAF16, OCIAD1, COMMD8, ODAM, HPF1, HERC6, MCUB, MARCH1, BANK1, LARP1B, SDAD1, TMEM33, LGI2, BBS7, UBA6, NEIL3, PGM2, C4orf19, FBXW7, TBC1D19, PI4K2B, TMEM144, TMA16, UFSP2, BLOC1S4, ZGRF1, STK32B, AP1AR, MAML3, CHRNA9, BMP2K, DDX60, CDKN2AIP, LYAR, TENM3, N4BP2, TMEM184C, SEPTIN11, EXOC1, LRP2BP, TMEM165, PDGFC, SLC2A9, FSTL5, BDH2, SMARCAD1, MEPE, STOX2, PRDM8, UTP3, INTS12, ANKRD50, ATP10D, DANCR, KIAA1211, RNF150, NWD2, TBC1D14, SORCS2, CC2D2A, KLHL8, PCDH10, CFAP97, FNIP2, SLAIN2, SHROOM3, STIM2, SH3RF1, UVSSA, METTL14, WDR19, ZFYVE28, GBA3, ENOPH1, OPRPN, OSTC, IL21, RXFP1, AFAP1, GUF1, SPCS3, SCOC, TRAPPC11, NEUROG2, SLC39A8, NCAPG, HHIP, NDST4, ETNPPL, USP46, MRPL1, RASL11B, ELOVL6, TNIP2, HAUS3, NDNF, FAT4, ARSJ, SRD5A3, ARHGAP10, CENPU, THAP9, NSUN7, UGT2A3, GSTCD, MAP9, TNIP3, JADE1, SCD5, DNAJB14, TMEM156, WWC2, FRAS1, NAA15, CWH43, ABHD18, ALPK1, GRPEL1, MED28, CXXC4, KCNIP4, CEP44, SETD7, PLA2G12A, FIP1L1, TLR10, SLC25A31, RAB33B, ARHGAP24, FGFBP2, SNX25, TTC29, MND1, SLC10A7, TKTL2, C4orf17, QRFPR, ABRAXAS1, KIAA1109, SLC49A3, NOA1, TMEM175, ABLIM2, HOPX, COL25A1, USP38, LNX1, MGARP, NAA11, GPAT3, CBR4, PIGY, TMEM128, CABS1, ZNF518B, FHDC1, PRMT9, CCDC149, DDX60L, YTHDC1, TMEM129, NAF1, MOB1B, TIFA, FAM114A1, TRMT10A, MRFAP1, TADA2B, TBCK, HTRA3, HELQ, CYP2U1, C1QTNF7, MRFAP1L1, DDIT4L, CLNK, WDR17, ARAP2, PCAT4, ANTXR2, OCIAD2, SCLT1, C4orf33, TMEM155, PABPC4L, ADAD1, ZFP42, LIN54, SPATA18, FAM241A, TMPRSS11B, GNPDA2, SPATA4, CPEB2, EVC2, ARL9, AASDH, PDCL2, C4orf36, PACRGL, TRAM1L1, OTOP1, ENPP6, SLC9B2, ASB5, SLC9B1, ZNF827, SH3D19, NFXL1, NIPAL1, PAQR3, SHISA3, SCFD2, MGAT4D, ZNF595, FAM218A, JAKMIP1, THAP6, ODAPH, KLB, FAM53A, PPM1K, C4orf45, TRMT44, RASGEF1B, SPATA5, BBS12, DCLK2, ADGRA3, TRIM60, FREM3, MMAA, ZBTB49, TIGD2, RASSF6, RBM46, SGMS2, COX7B2, GSX2, ZNF721, SYNPO2, C4orf46, SLC10A4, TIGD4, TMEM154, SMIM14, TMEM192, RWDD4, PRIMPOL, TAPT1, TRIML2, CNOT6L, TECRL, LCORL, CFAP299, EPGN, ZNF718, ELMOD2, NPNT, CCDC110, MFSD8, CCDC96, BOD1L1, FDCSP, NAP1L5, DCAF4L1, CYP4V2, CRIPAK, DOK7, RNF212, FAM13A-AS1, GPRIN3, COX18, YIPF7, FRYL, RNF175, FAM200B, STPG2, ZAR1, CCDC158, TMPRSS11A, TRIML1, LRRC66, NAT8L, PRSS48, SOWAHB, LRIT3, MSANTD1, SLC10A6, HSD17B13, ANKRD37, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, TMPRSS11F, TRIM61, HELT, C4orf48, DTHD1, PRR27, AMTN, CCSER1, C4orf3, MIR302A, MIR95, MTHFD2L, TMEM150C, C4orf47, GALNTL6, MIR302B, MIR302C, MIR302D, MIR367, FRG2, CISD2, UGT2A2, DEFB131A, CLRN2, C4orf51, ZNF732, SNORA26, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, FAM160A1, RELL1, PSAPL1, SNHG8, FAM47E, CLDN24, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, ERVMER34-1, USP17L15, THEGL, GIMD1, SEC24B-AS1, MIR4449, FAM47E-STBD1, PYURF
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
11.
GRCh37:
Chr4:12440-190904441
ADD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFM, AFP, AGA, ALB, AMBN, ANK2, SLC25A4, ANXA3, ANXA5, APBB2, AREG, RHOH, ART3, ATOH1, ATP5ME, NKX3-2, BMP3, BMPR1B, BST1, BTC, CAMK2D, CASP3, CASP6, CCKAR, CCNA2, CCNG2, SCARB2, CD38, LRBA, CDS1, CLGN, CENPC, CENPE, CLCN3, CNGA1, CPE, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, DGKQ, DCK, DCTD, DHX15, DMP1, DRD5, DSPP, EDNRA, EGF, EIF4E, ELF2, ENPEP, EPHA5, EREG, ETFDH, EVC, F11, FABP2, ACSL1, FAT1, FGA, FGB, FGF2, FGF5, FGFR3, FGG, FRG1, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GC, GK2, GLRB, GNRHR, GPM6A, GRK4, GRIA2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, H2AFZ, HADH, HTT, HGFAC, UBE2K, HMGB2, HMX1, HNRNPD, HPGD, HTN1, HTN3, IBSP, IDUA, CFI, IGFBP7, JCHAIN, RBPJ, IL2, CXCL8, IL15, ING2, CXCL10, IRF2, KDR, KIT, KLKB1, LETM1, LRPAP1, MAD2L1, SMAD1, MANBA, MGST2, CXCL9, AFF1, NR3C2, MSX1, MTNR1A, MTTP, MUC7, MYL5, NDUFC1, NEK1, NFKB1, NKX6-1, NPY1R, NPY2R, NPY5R, PCDH7, PDGFRA, PDE6B, PDHA2, GATB, PF4, PF4V1, PITX2, PKD2, PLRG1, EXOSC9, POLR2B, POU4F2, PPEF2, PPAT, PPBP, PPID, PPP2R2C, PPP3CA, PRKG2, MAPK10, PTPN13, QDPR, RAP1GDS1, REST, RFC1, RGS12, RNF4, ABCE1, RPL9, RPL34, RPS3A, S100P, MSMO1, CXCL6, CXCL11, CXCL5, SFRP2, SGCB, SH3BP2, SNCA, SOD3, SPINK2, SPP1, SRP72, STATH, SULT1E1, TACR3, TDO2, TEC, TLL1, TLR1, TLR2, TLR3, TRPC3, TXK, UBE2D3, UCHL1, UCP1, UGDH, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, UGT8, VEGFC, GLRA3, WFS1, NSD2, NELFA, ZNF141, SLBP, ACOX3, SPARCL1, SMARCA5, SORBS2, PRSS12, CPZ, NOP14, FAM193A, USO1, UNC5C, LAMTOR3, PDE5A, SLC4A4, SAP30, INPP4B, PROM1, HERC3, PHOX2B, SNORD73A, STBD1, CDKL2, PAPSS1, LDB2, LRAT, AIMP1, NDST3, SLIT2, RAB28, TMPRSS11D, ABCG2, HAND2, ADAMTS3, CLOCK, CEP135, RAPGEF2, KIAA0232, MFAP3L, SEC24D, G3BP2, WDR1, HS3ST1, FGFBP1, HNRNPDL, TSPAN5, ENAM, LINC01587, FAM13A, MFSD10, SPRY1, MAEA, TLR6, PCGF3, ANAPC10, ATP8A1, SPON2, PGRMC2, SEC24B, TACC3, SLC30A9, CXCL13, SLC34A2, MAB21L2, PAICS, MXD4, PDLIM5, RRH, CORIN, UGT2B11, PLK4, PTTG2, CPLX1, HPSE, SLC26A1, NMU, SMR3B, NPFFR2, PPARGC1A, UGT2A1, CCNI, LIAS, ADAM29, PRDM5, LSM6, NUDT6, ANXA10, KLHL2, SCRG1, HSPA4L, SEC31A, RUFY3, MMRN1, LIMCH1, WDFY3, PALLD, DCUN1D4, TBC1D9, METAP1, TBC1D1, SEL1L3, TMEM131L, PDS5A, ADGRL3, TRIM2, MAN2B2, ANP32C, SLC7A11, NOCT, PARM1, FAM149A, RCHY1, ANKRD17, STAP1, FBXL5, FBXO8, CHIC2, SMR3A, NSG1, PPA2, DAPP1, DKK2, FAM184B, INTU, NAAA, GPR78, COQ2, ARFIP1, SULT1B1, PDLIM3, HPGDS, ZNF330, TMPRSS11E, ZCCHC4, ANAPC4, SPOCK3, MRPS18C, LAP3, KLHL5, SEPSECS, COPS4, AADAT, HSD17B11, LEF1, HERC5, KLF3, GASK1B, PLAC8, LARP7, EMCN, MYOZ2, ASIC5, GALNT7, NUDT9, NUP54, STX18, FGFRL1, CLDN22, CYTL1, GAR1, SH3TC1, UGT2B28, RBM47, PCDH18, USP53, OTUD4, NKX1-1, TET2, DCHS2, ARHGEF38, PIGG, DCAF16, OCIAD1, COMMD8, ODAM, HPF1, HERC6, MCUB, MARCH1, BANK1, LARP1B, SDAD1, TMEM33, LGI2, BBS7, UBA6, NEIL3, PGM2, C4orf19, FBXW7, TBC1D19, PI4K2B, TMEM144, TMA16, UFSP2, BLOC1S4, ZGRF1, STK32B, AP1AR, MAML3, CHRNA9, BMP2K, DDX60, CDKN2AIP, LYAR, TENM3, N4BP2, TMEM184C, SEPTIN11, EXOC1, LRP2BP, TMEM165, PDGFC, SLC2A9, FSTL5, BDH2, SMARCAD1, MEPE, STOX2, PRDM8, UTP3, INTS12, ANKRD50, ATP10D, DANCR, KIAA1211, RNF150, NWD2, TBC1D14, SORCS2, CC2D2A, KLHL8, PCDH10, CFAP97, FNIP2, SLAIN2, SHROOM3, STIM2, SH3RF1, UVSSA, METTL14, WDR19, ZFYVE28, GBA3, ENOPH1, OPRPN, OSTC, IL21, RXFP1, AFAP1, GUF1, SPCS3, SCOC, TRAPPC11, NEUROG2, SLC39A8, NCAPG, HHIP, NDST4, ETNPPL, USP46, MRPL1, RASL11B, ELOVL6, TNIP2, HAUS3, NDNF, FAT4, ARSJ, SRD5A3, ARHGAP10, CENPU, THAP9, NSUN7, UGT2A3, GSTCD, MAP9, TNIP3, JADE1, SCD5, DNAJB14, TMEM156, WWC2, FRAS1, NAA15, CWH43, ABHD18, ALPK1, GRPEL1, MED28, CXXC4, KCNIP4, CEP44, SETD7, PLA2G12A, FIP1L1, TLR10, SLC25A31, RAB33B, ARHGAP24, FGFBP2, SNX25, TTC29, MND1, SLC10A7, TKTL2, C4orf17, QRFPR, ABRAXAS1, KIAA1109, SLC49A3, NOA1, TMEM175, ABLIM2, HOPX, COL25A1, USP38, LNX1, MGARP, NAA11, GPAT3, CBR4, PIGY, TMEM128, CABS1, ZNF518B, FHDC1, PRMT9, CCDC149, DDX60L, YTHDC1, TMEM129, NAF1, MOB1B, TIFA, FAM114A1, TRMT10A, MRFAP1, TADA2B, TBCK, HTRA3, HELQ, CYP2U1, C1QTNF7, MRFAP1L1, DDIT4L, CLNK, WDR17, ARAP2, PCAT4, ANTXR2, OCIAD2, SCLT1, C4orf33, TMEM155, PABPC4L, ADAD1, ZFP42, LIN54, SPATA18, FAM241A, TMPRSS11B, GNPDA2, SPATA4, CPEB2, EVC2, ARL9, AASDH, PDCL2, C4orf36, PACRGL, TRAM1L1, OTOP1, ENPP6, SLC9B2, ASB5, SLC9B1, ZNF827, SH3D19, NFXL1, NIPAL1, PAQR3, SHISA3, SCFD2, MGAT4D, ZNF595, FAM218A, JAKMIP1, THAP6, ODAPH, KLB, FAM53A, PPM1K, C4orf45, TRMT44, RASGEF1B, SPATA5, BBS12, DCLK2, ADGRA3, TRIM60, FREM3, MMAA, ZBTB49, TIGD2, RASSF6, RBM46, SGMS2, COX7B2, GSX2, ZNF721, SYNPO2, C4orf46, SLC10A4, TIGD4, TMEM154, SMIM14, TMEM192, RWDD4, PRIMPOL, TAPT1, TRIML2, CNOT6L, TECRL, LCORL, CFAP299, EPGN, ZNF718, ELMOD2, NPNT, CCDC110, MFSD8, CCDC96, BOD1L1, FDCSP, NAP1L5, DCAF4L1, CYP4V2, CRIPAK, DOK7, RNF212, FAM13A-AS1, GPRIN3, COX18, YIPF7, FRYL, RNF175, FAM200B, STPG2, ZAR1, CCDC158, TMPRSS11A, TRIML1, LRRC66, NAT8L, PRSS48, SOWAHB, LRIT3, MSANTD1, SLC10A6, HSD17B13, ANKRD37, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, TMPRSS11F, TRIM61, HELT, C4orf48, DTHD1, PRR27, AMTN, CCSER1, C4orf3, MIR302A, MIR95, MTHFD2L, TMEM150C, C4orf47, GALNTL6, MIR302B, MIR302C, MIR302D, MIR367, CISD2, UGT2A2, DEFB131A, CLRN2, C4orf51, ZNF732, SNORA26, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, FAM160A1, RELL1, PSAPL1, SNHG8, FAM47E, CLDN24, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, ERVMER34-1, USP17L15, THEGL, GIMD1, SEC24B-AS1, MIR4449, FAM47E-STBD1, PYURF
See casesPathogenicno assertion criteria provided
12.
GRCh37:
Chr4:71200989-71275284
SMR3B, SMR3A, OPRPN, CABS1See casesLikely benignno assertion criteria provided
13.
GRCh37:
Chr4:69551806-96215607
GRCh38:
Chr4:68686088-95294456
AFM, AFP, ALB, AMBN, ANXA3, AREG, ART3, ATOH1, BMP3, BMPR1B, BTC, CCNG2, SCARB2, CDS1, CSN1S1, CSN2, CSN3, DCK, DMP1, DSPP, EREG, FGF5, GC, GK2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, HNRNPD, HTN1, HTN3, IBSP, JCHAIN, CXCL8, CXCL10, CXCL9, AFF1, MUC7, NKX6-1, PF4, PF4V1, PKD2, PPEF2, PPBP, PRKG2, MAPK10, PTPN13, CXCL6, CXCL11, CXCL5, SNCA, SPP1, STATH, SULT1E1, UGT2B4, UGT2B7, UGT2B10, SPARCL1, USO1, UNC5C, SLC4A4, HERC3, STBD1, CDKL2, ABCG2, ADAMTS3, G3BP2, HNRNPDL, ENAM, FAM13A, CXCL13, PDLIM5, UGT2B11, HPSE, SMR3B, NPFFR2, UGT2A1, CCNI, SEC31A, RUFY3, MMRN1, WDFY3, PARM1, RCHY1, ANKRD17, SMR3A, NAAA, COQ2, SULT1B1, HPGDS, MRPS18C, COPS4, HSD17B11, HERC5, PLAC8, NUDT9, NUP54, UGT2B28, ODAM, HERC6, SDAD1, BMP2K, SEPTIN11, SMARCAD1, MEPE, PRDM8, UTP3, KLHL8, SHROOM3, ENOPH1, OPRPN, MRPL1, THAP9, UGT2A3, SCD5, FRAS1, ARHGAP24, ABRAXAS1, NAA11, GPAT3, PIGY, CABS1, MOB1B, HELQ, PCAT4, ANTXR2, LIN54, C4orf36, PAQR3, THAP6, ODAPH, PPM1K, RASGEF1B, TIGD2, RASSF6, CNOT6L, CFAP299, EPGN, FDCSP, NAP1L5, FAM13A-AS1, GPRIN3, COX18, CCDC158, SOWAHB, SLC10A6, HSD17B13, PRR27, AMTN, CCSER1, WDFY3-AS2, LINC00575, MTHFD2L, LINC02483, TMEM150C, UGT2A2, SNCA-AS1, MIR575, LINC02499, FAM47E, THAP9-AS1, LINC01094, LINC01088, LINC00989, AFF1-AS1, BMPR1B-DT, LOC100507388, MIR548AH, MIR4450, MIR4451, MIR5096, MIR4452, FAM47E-STBD1, MIR5705, PYURF, LOC101928809, LOC101928942, LOC101928978, LOC101929064, PIGY-DT, LNCPRESS2, LOC101929210, PPM1K-DT, LOC105377267, LINC02562, SNORD143, SNORD144, LOC107988048, SNORD161, LOC110120743, LOC110120752, LOC110121083, LOC110121104, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671
See casesPathogenic
(Jun 11, 2013)
no assertion criteria provided
14.
GRCh37:
Chr4:71070185-72070248
GRCh38:
Chr4:70204468-71204531
See casesUncertain significance
(Sep 27, 2013)
no assertion criteria provided
15.
GRCh37:
Chr4:70920492-71343770
GRCh38:
Chr4:70054775-70478053
CSN3, HTN1, MUC7, SMR3B, SMR3A, ODAM, OPRPN, CABS1, FDCSP, PRR27See casesUncertain significance
(Nov 4, 2011)
no assertion criteria provided
16.
GRCh37:
Chr4:68665383-75106637
GRCh38:
Chr4:67799665-74240920
See casesLikely pathogenic
(Oct 10, 2011)
no assertion criteria provided
17.
GRCh37:
Chr4:69767879-71485990
GRCh38:
Chr4:68902161-70620273
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
18.
GRCh37:
Chr4:71162798-71271370
GRCh38:
Chr4:70297081-70405653
SMR3B, SMR3A, OPRPN, CABS1See casesUncertain significance
(Aug 5, 2011)
no assertion criteria provided
19.
GRCh37:
Chr4:66320280-73179410
GRCh38:
Chr4:65454562-72313693
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr4:52697788-98426769
GRCh38:
Chr4:51831622-97505618
AFM, AFP, ALB, AMBN, ANXA3, AREG, ART3, ATOH1, BMP3, BMPR1B, BTC, CCNG2, SCARB2, CDS1, CENPC, CSN1S1, CSN2, CSN3, DCK, DMP1, DSPP, EPHA5, EREG, FGF5, GC, GK2, GNRHR, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, HNRNPD, HTN1, HTN3, IBSP, IGFBP7, JCHAIN, CXCL8, CXCL10, KDR, KIT, CXCL9, AFF1, MUC7, NKX6-1, PDGFRA, PDHA2, PF4, PF4V1, PKD2, POLR2B, PPEF2, PPAT, PPBP, PRKG2, MAPK10, PTPN13, REST, CXCL6, CXCL11, CXCL5, SGCB, SNCA, SPINK2, SPP1, SRP72, STATH, SULT1E1, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, SPARCL1, USO1, UNC5C, SLC4A4, HERC3, STBD1, CDKL2, TMPRSS11D, ABCG2, ADAMTS3, CLOCK, CEP135, G3BP2, HNRNPDL, ENAM, FAM13A, CXCL13, PAICS, PDLIM5, UGT2B11, HPSE, NMU, SMR3B, NPFFR2, UGT2A1, CCNI, SEC31A, RUFY3, MMRN1, WDFY3, DCUN1D4, ADGRL3, PARM1, RCHY1, ANKRD17, STAP1, CHIC2, SMR3A, NAAA, COQ2, SULT1B1, HPGDS, TMPRSS11E, MRPS18C, COPS4, HSD17B11, HERC5, PLAC8, NUDT9, NUP54, UGT2B28, ODAM, HERC6, SDAD1, UBA6, BMP2K, SEPTIN11, EXOC1, TMEM165, SMARCAD1, MEPE, PRDM8, UTP3, DANCR, KIAA1211, KLHL8, SHROOM3, ENOPH1, OPRPN, USP46, MRPL1, RASL11B, SRD5A3, THAP9, UGT2A3, SCD5, FRAS1, FIP1L1, ARHGAP24, ABRAXAS1, NOA1, HOPX, LNX1, NAA11, GPAT3, PIGY, CABS1, YTHDC1, MOB1B, HELQ, PCAT4, ANTXR2, LIN54, SPATA18, TMPRSS11B, ARL9, AASDH, PDCL2, C4orf36, PAQR3, LINC01618, SCFD2, THAP6, ODAPH, PPM1K, RASGEF1B, TIGD2, RASSF6, GSX2, CNOT6L, TECRL, CFAP299, IGFBP7-AS1, EPGN, FDCSP, NAP1L5, FAM13A-AS1, GPRIN3, COX18, STPG2, CCDC158, TMPRSS11A, LRRC66, LINC02260, SOWAHB, SLC10A6, HSD17B13, TMPRSS11F, LINC02232, PRR27, AMTN, CCSER1, WDFY3-AS2, LINC00575, MTHFD2L, LINC02483, TMEM150C, UBA6-AS1, LOC550113, UGT2A2, USP46-AS1, EXOC1L, SNCA-AS1, SNORA26, MIR575, LINC02499, FAM47E, EPHA5-AS1, ERVMER34-1, MIR1269A, THAP9-AS1, LINC01094, LINC01088, LINC00989, LOC100506444, SRD5A3-AS1, THEGL, AFF1-AS1, BMPR1B-DT, LOC100507388, MIR548AH, MIR4450, MIR4451, MIR5096, MIR4449, MIR548AG1, MIR4452, FAM47E-STBD1, MIR5705, LNX1-AS1, LNX1-AS2, PYURF, STPG2-AS1, ADGRL3-AS1, LOC101927237, LOC101928809, LINC02380, LOC101928942, LOC101928978, LOC101929064, PIGY-DT, LNCPRESS2, LOC101929210, PPM1K-DT, LINC02619, LINC02429, LINC02496, LINC02271, LOC105377267, LINC02562, LINC02267, LINC02480, LINC02283, LINC02494, SNORD143, SNORD144, LOC107988048, SNORD161, LOC110120742, LOC110120743, LOC110120745, LOC110120752, LOC110120783, LOC110121083, LOC110121104, LOC110121111, LOC110121177, LOC110121183, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
21.
GRCh37:
Chr4:70938458-72477891
GRCh38:
Chr4:70072741-71612174
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr4:67708126-71697274
GRCh38:
Chr4:66842408-70831557
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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