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Items: 54

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:4165334-33324781
not providedPathogenic
(Nov 16, 2017)
no assertion criteria provided
2.
GRCh37:
Chr4:68345-49089361
ADD1, ADRA2C, APBB2, RHOH, ATP5ME, NKX3-2, BST1, CCKAR, CD38, CNGA1, CRMP1, CTBP1, DGKQ, DHX15, DRD5, EVC, FGFR3, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GRK4, HTT, HGFAC, UBE2K, HMX1, IDUA, RBPJ, LETM1, LRPAP1, MSX1, MYL5, PCDH7, PDE6B, PPP2R2C, QDPR, RFC1, RGS12, RNF4, RPL9, S100P, SH3BP2, SOD3, TEC, TLR1, TXK, UCHL1, UGDH, WFS1, NSD2, NELFA, ZNF141, SLBP, ACOX3, CPZ, NOP14, FAM193A, PROM1, PHOX2B, LDB2, SLIT2, RAB28, KIAA0232, WDR1, HS3ST1, FGFBP1, LINC01587, MFSD10, MAEA, TLR6, PCGF3, ATP8A1, SPON2, TACC3, SLC30A9, SLC34A2, MXD4, CORIN, PTTG2, CPLX1, SLC26A1, PPARGC1A, LIAS, LIMCH1, TBC1D1, SEL1L3, PDS5A, MAN2B2, FBXL5, NSG1, FAM184B, GPR78, ZCCHC4, ANAPC4, LAP3, KLHL5, SEPSECS, KLF3, STX18, FGFRL1, CYTL1, SH3TC1, RBM47, NKX1-1, PIGG, DCAF16, OCIAD1, COMMD8, TMEM33, LGI2, PGM2, C4orf19, TBC1D19, PI4K2B, BLOC1S4, STK32B, CHRNA9, LYAR, N4BP2, SLC2A9, ATP10D, NWD2, TBC1D14, SORCS2, CC2D2A, SLAIN2, STIM2, UVSSA, WDR19, ZFYVE28, GBA3, AFAP1, GUF1, NCAPG, TNIP2, HAUS3, NSUN7, TMEM156, CWH43, GRPEL1, MED28, KCNIP4, TLR10, FGFBP2, SLC49A3, TMEM175, ABLIM2, TMEM128, ZNF518B, CCDC149, TMEM129, FAM114A1, MRFAP1, TADA2B, HTRA3, C1QTNF7, MRFAP1L1, CLNK, ARAP2, OCIAD2, GNPDA2, CPEB2, EVC2, PACRGL, OTOP1, NFXL1, NIPAL1, SHISA3, ZNF595, JAKMIP1, KLB, FAM53A, TRMT44, ADGRA3, ZBTB49, COX7B2, ZNF721, SLC10A4, SMIM14, TAPT1, LCORL, ZNF718, CCDC96, BOD1L1, DCAF4L1, CRIPAK, DOK7, RNF212, YIPF7, FRYL, FAM200B, ZAR1, NAT8L, MSANTD1, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, C4orf48, DTHD1, MIR95, DEFB131A, CLRN2, ZNF732, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, RELL1, PSAPL1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L15
not providedPathogenic
(Jan 15, 2018)
no assertion criteria provided
3.
GRCh37:
Chr4:68345-8731855
See casesLikely pathogenic
(May 5, 2014)
no assertion criteria provided
4.
GRCh37:
Chr4:68345-15973383
See casesPathogenic
(Feb 24, 2015)
no assertion criteria provided
5.
GRCh37:
Chr4:68345-13770107
See casesPathogenic
(Jul 1, 2014)
no assertion criteria provided
6.
GRCh37:
Chr4:68345-10336032
See casesPathogenic
(May 16, 2014)
no assertion criteria provided
7.
GRCh37:
Chr4:68345-66440622
ADD1, ADRA2C, APBB2, RHOH, ATP5ME, NKX3-2, BST1, CCKAR, CD38, CNGA1, CRMP1, CTBP1, DGKQ, DHX15, DRD5, EPHA5, EVC, FGFR3, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GRK4, HTT, HGFAC, UBE2K, HMX1, IDUA, IGFBP7, RBPJ, KDR, KIT, LETM1, LRPAP1, MSX1, MYL5, PCDH7, PDGFRA, PDE6B, POLR2B, PPAT, PPP2R2C, QDPR, REST, RFC1, RGS12, RNF4, RPL9, S100P, SGCB, SH3BP2, SOD3, SPINK2, SRP72, TEC, TLR1, TXK, UCHL1, UGDH, WFS1, NSD2, NELFA, ZNF141, SLBP, ACOX3, CPZ, NOP14, FAM193A, PROM1, PHOX2B, LDB2, SLIT2, RAB28, CLOCK, CEP135, KIAA0232, WDR1, HS3ST1, FGFBP1, LINC01587, MFSD10, MAEA, TLR6, PCGF3, ATP8A1, SPON2, TACC3, SLC30A9, SLC34A2, PAICS, MXD4, CORIN, PTTG2, CPLX1, SLC26A1, NMU, PPARGC1A, LIAS, LIMCH1, DCUN1D4, TBC1D1, SEL1L3, PDS5A, ADGRL3, MAN2B2, FBXL5, CHIC2, NSG1, FAM184B, GPR78, ZCCHC4, ANAPC4, LAP3, KLHL5, SEPSECS, KLF3, STX18, FGFRL1, CYTL1, SH3TC1, RBM47, NKX1-1, PIGG, DCAF16, OCIAD1, COMMD8, TMEM33, LGI2, PGM2, C4orf19, TBC1D19, PI4K2B, BLOC1S4, STK32B, CHRNA9, LYAR, N4BP2, EXOC1, TMEM165, SLC2A9, ATP10D, DANCR, KIAA1211, NWD2, TBC1D14, SORCS2, CC2D2A, SLAIN2, STIM2, UVSSA, WDR19, ZFYVE28, GBA3, AFAP1, GUF1, NCAPG, USP46, RASL11B, TNIP2, HAUS3, SRD5A3, NSUN7, TMEM156, CWH43, GRPEL1, MED28, KCNIP4, FIP1L1, TLR10, FGFBP2, SLC49A3, NOA1, TMEM175, ABLIM2, HOPX, LNX1, TMEM128, ZNF518B, CCDC149, TMEM129, FAM114A1, MRFAP1, TADA2B, HTRA3, C1QTNF7, MRFAP1L1, CLNK, ARAP2, OCIAD2, SPATA18, GNPDA2, CPEB2, EVC2, ARL9, AASDH, PDCL2, PACRGL, OTOP1, NFXL1, NIPAL1, SHISA3, SCFD2, ZNF595, JAKMIP1, KLB, FAM53A, TRMT44, ADGRA3, ZBTB49, COX7B2, GSX2, ZNF721, SLC10A4, SMIM14, TAPT1, TECRL, LCORL, ZNF718, CCDC96, BOD1L1, DCAF4L1, CRIPAK, DOK7, RNF212, YIPF7, FRYL, FAM200B, ZAR1, LRRC66, NAT8L, MSANTD1, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, C4orf48, DTHD1, MIR95, DEFB131A, CLRN2, ZNF732, SNORA26, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, RELL1, PSAPL1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, ERVMER34-1, USP17L15, THEGL, MIR4449
See casesPathogenic
(Jun 22, 2015)
no assertion criteria provided
8.
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, FAM198B, 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, SEPT11, 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
(Jul 14, 2015)
no assertion criteria provided
9.
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, FAM198B, 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, SEPT11, 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
10.
GRCh37:
Chr4:68345-8731855
See casesPathogenicno assertion criteria provided
11.
GRCh37:
Chr4:68345-20533787
See casesPathogenicno assertion criteria provided
12.
GRCh37:
Chr4:68345-15197147
See casesPathogenicno assertion criteria provided
13.
GRCh37:
Chr4:68345-49089361
ADD1, ADRA2C, APBB2, RHOH, ATP5ME, NKX3-2, BST1, CCKAR, CD38, CNGA1, CRMP1, CTBP1, DGKQ, DHX15, DRD5, EVC, FGFR3, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GRK4, HTT, HGFAC, UBE2K, HMX1, IDUA, RBPJ, LETM1, LRPAP1, MSX1, MYL5, PCDH7, PDE6B, PPP2R2C, QDPR, RFC1, RGS12, RNF4, RPL9, S100P, SH3BP2, SOD3, TEC, TLR1, TXK, UCHL1, UGDH, WFS1, NSD2, NELFA, ZNF141, SLBP, ACOX3, CPZ, NOP14, FAM193A, PROM1, PHOX2B, LDB2, SLIT2, RAB28, KIAA0232, WDR1, HS3ST1, FGFBP1, LINC01587, MFSD10, MAEA, TLR6, PCGF3, ATP8A1, SPON2, TACC3, SLC30A9, SLC34A2, MXD4, CORIN, PTTG2, CPLX1, SLC26A1, PPARGC1A, LIAS, LIMCH1, TBC1D1, SEL1L3, PDS5A, MAN2B2, FBXL5, NSG1, FAM184B, GPR78, ZCCHC4, ANAPC4, LAP3, KLHL5, SEPSECS, KLF3, STX18, FGFRL1, CYTL1, SH3TC1, RBM47, NKX1-1, PIGG, DCAF16, OCIAD1, COMMD8, TMEM33, LGI2, PGM2, C4orf19, TBC1D19, PI4K2B, BLOC1S4, STK32B, CHRNA9, LYAR, N4BP2, SLC2A9, ATP10D, NWD2, TBC1D14, SORCS2, CC2D2A, SLAIN2, STIM2, UVSSA, WDR19, ZFYVE28, GBA3, AFAP1, GUF1, NCAPG, TNIP2, HAUS3, NSUN7, TMEM156, CWH43, GRPEL1, MED28, KCNIP4, TLR10, FGFBP2, SLC49A3, TMEM175, ABLIM2, TMEM128, ZNF518B, CCDC149, TMEM129, FAM114A1, MRFAP1, TADA2B, HTRA3, C1QTNF7, MRFAP1L1, CLNK, ARAP2, OCIAD2, GNPDA2, CPEB2, EVC2, PACRGL, OTOP1, NFXL1, NIPAL1, SHISA3, ZNF595, JAKMIP1, KLB, FAM53A, TRMT44, ADGRA3, ZBTB49, COX7B2, ZNF721, SLC10A4, SMIM14, TAPT1, LCORL, ZNF718, CCDC96, BOD1L1, DCAF4L1, CRIPAK, DOK7, RNF212, YIPF7, FRYL, FAM200B, ZAR1, NAT8L, MSANTD1, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, C4orf48, DTHD1, MIR95, DEFB131A, CLRN2, ZNF732, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, RELL1, PSAPL1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L15
See casesPathogenicno assertion criteria provided
14.
GRCh37:
Chr4:68345-49093788
ADD1, ADRA2C, APBB2, RHOH, ATP5ME, NKX3-2, BST1, CCKAR, CD38, CNGA1, CRMP1, CTBP1, DGKQ, DHX15, DRD5, EVC, FGFR3, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GRK4, HTT, HGFAC, UBE2K, HMX1, IDUA, RBPJ, LETM1, LRPAP1, MSX1, MYL5, PCDH7, PDE6B, PPP2R2C, QDPR, RFC1, RGS12, RNF4, RPL9, S100P, SH3BP2, SOD3, TEC, TLR1, TXK, UCHL1, UGDH, WFS1, NSD2, NELFA, ZNF141, SLBP, ACOX3, CPZ, NOP14, FAM193A, PROM1, PHOX2B, LDB2, SLIT2, RAB28, KIAA0232, WDR1, HS3ST1, FGFBP1, LINC01587, MFSD10, MAEA, TLR6, PCGF3, ATP8A1, SPON2, TACC3, SLC30A9, SLC34A2, MXD4, CORIN, PTTG2, CPLX1, SLC26A1, PPARGC1A, LIAS, LIMCH1, TBC1D1, SEL1L3, PDS5A, MAN2B2, FBXL5, NSG1, FAM184B, GPR78, ZCCHC4, ANAPC4, LAP3, KLHL5, SEPSECS, KLF3, STX18, FGFRL1, CYTL1, SH3TC1, RBM47, NKX1-1, PIGG, DCAF16, OCIAD1, COMMD8, TMEM33, LGI2, PGM2, C4orf19, TBC1D19, PI4K2B, BLOC1S4, STK32B, CHRNA9, LYAR, N4BP2, SLC2A9, ATP10D, NWD2, TBC1D14, SORCS2, CC2D2A, SLAIN2, STIM2, UVSSA, WDR19, ZFYVE28, GBA3, AFAP1, GUF1, NCAPG, TNIP2, HAUS3, NSUN7, TMEM156, CWH43, GRPEL1, MED28, KCNIP4, TLR10, FGFBP2, SLC49A3, TMEM175, ABLIM2, TMEM128, ZNF518B, CCDC149, TMEM129, FAM114A1, MRFAP1, TADA2B, HTRA3, C1QTNF7, MRFAP1L1, CLNK, ARAP2, OCIAD2, GNPDA2, CPEB2, EVC2, PACRGL, OTOP1, NFXL1, NIPAL1, SHISA3, ZNF595, JAKMIP1, KLB, FAM53A, TRMT44, ADGRA3, ZBTB49, COX7B2, ZNF721, SLC10A4, SMIM14, TAPT1, LCORL, ZNF718, CCDC96, BOD1L1, DCAF4L1, CRIPAK, DOK7, RNF212, YIPF7, FRYL, FAM200B, ZAR1, NAT8L, MSANTD1, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, C4orf48, DTHD1, MIR95, DEFB131A, CLRN2, ZNF732, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, RELL1, PSAPL1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L15
See casesPathogenicno assertion criteria provided
15.
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, 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, FAM198B, 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, SEPT11, 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
16.
GRCh37:
Chr4:71552-15302739
See casesPathogenicno assertion criteria provided
17.
GRCh37:
Chr4:127233-8667610
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr4:3776784-7361544
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr4:12440-49064044
ADD1, ADRA2C, APBB2, RHOH, ATP5ME, NKX3-2, BST1, CCKAR, CD38, CNGA1, CRMP1, CTBP1, DGKQ, DHX15, DRD5, EVC, FGFR3, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GRK4, HTT, HGFAC, UBE2K, HMX1, IDUA, RBPJ, LETM1, LRPAP1, MSX1, MYL5, PCDH7, PDE6B, PPP2R2C, QDPR, RFC1, RGS12, RNF4, RPL9, S100P, SH3BP2, SOD3, TEC, TLR1, TXK, UCHL1, UGDH, WFS1, NSD2, NELFA, ZNF141, SLBP, ACOX3, CPZ, NOP14, FAM193A, PROM1, PHOX2B, LDB2, SLIT2, RAB28, KIAA0232, WDR1, HS3ST1, FGFBP1, LINC01587, MFSD10, MAEA, TLR6, PCGF3, ATP8A1, SPON2, TACC3, SLC30A9, SLC34A2, MXD4, CORIN, PTTG2, CPLX1, SLC26A1, PPARGC1A, LIAS, LIMCH1, TBC1D1, SEL1L3, PDS5A, MAN2B2, FBXL5, NSG1, FAM184B, GPR78, ZCCHC4, ANAPC4, LAP3, KLHL5, SEPSECS, KLF3, STX18, FGFRL1, CYTL1, SH3TC1, RBM47, NKX1-1, PIGG, DCAF16, OCIAD1, COMMD8, TMEM33, LGI2, PGM2, C4orf19, TBC1D19, PI4K2B, BLOC1S4, STK32B, CHRNA9, LYAR, N4BP2, SLC2A9, ATP10D, NWD2, TBC1D14, SORCS2, CC2D2A, SLAIN2, STIM2, UVSSA, WDR19, ZFYVE28, GBA3, AFAP1, GUF1, NCAPG, TNIP2, HAUS3, NSUN7, TMEM156, CWH43, GRPEL1, MED28, KCNIP4, TLR10, FGFBP2, SLC49A3, TMEM175, ABLIM2, TMEM128, ZNF518B, CCDC149, TMEM129, FAM114A1, MRFAP1, TADA2B, HTRA3, C1QTNF7, MRFAP1L1, CLNK, ARAP2, OCIAD2, GNPDA2, CPEB2, EVC2, PACRGL, OTOP1, NFXL1, NIPAL1, SHISA3, ZNF595, JAKMIP1, KLB, FAM53A, TRMT44, ADGRA3, ZBTB49, COX7B2, ZNF721, SLC10A4, SMIM14, TAPT1, LCORL, ZNF718, CCDC96, BOD1L1, DCAF4L1, CRIPAK, DOK7, RNF212, YIPF7, FRYL, FAM200B, ZAR1, NAT8L, MSANTD1, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, C4orf48, DTHD1, MIR95, DEFB131A, CLRN2, ZNF732, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, RELL1, PSAPL1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L15
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr4:71552-29006745
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr4:6447048-20490737
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr4:49450-8872474
See casesPathogenic
(May 3, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr4:44020-19796182
See casesPathogenic
(Jun 23, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr4:68345-20387231
GRCh38:
Chr4:68453-20385608
ADD1, ADRA2C, ATP5ME, NKX3-2, BST1, CD38, CRMP1, CTBP1, DGKQ, DRD5, EVC, FGFR3, GAK, GRK4, HTT, HGFAC, HMX1, IDUA, LETM1, LRPAP1, MSX1, MYL5, PDE6B, PPP2R2C, QDPR, RGS12, RNF4, S100P, SH3BP2, WFS1, NSD2, NELFA, ZNF141, SLBP, ACOX3, CPZ, NOP14, FAM193A, PROM1, LDB2, SLIT2, RAB28, KIAA0232, WDR1, HS3ST1, FGFBP1, LINC01587, MFSD10, MAEA, PCGF3, SPON2, TACC3, MXD4, CPLX1, SLC26A1, MAN2B2, FBXL5, NSG1, FAM184B, GPR78, LAP3, STX18, FGFRL1, CYTL1, SH3TC1, NKX1-1, PIGG, DCAF16, BLOC1S4, STK32B, LYAR, SLC2A9, TBC1D14, SORCS2, CC2D2A, UVSSA, ZFYVE28, AFAP1, NCAPG, TNIP2, HAUS3, GRPEL1, MED28, FGFBP2, SLC49A3, TMEM175, ABLIM2, AFAP1-AS1, TMEM128, ZNF518B, CTBP1-DT, TMEM129, MRFAP1, TADA2B, HTRA3, C1QTNF7, MRFAP1L1, CLNK, CPEB2, EVC2, OTOP1, ZNF595, LINC01085, JAKMIP1, FAM53A, TRMT44, ZBTB49, ZNF721, LINC00504, TAPT1, TAPT1-AS1, LCORL, ZNF718, CCDC96, BOD1L1, CTBP1-AS, CRIPAK, LINC02495, DOK7, LINC00955, RNF212, LINC01097, LINC01096, FAM200B, NOP14-AS1, NAT8L, LINC002481, MSANTD1, POLN, C4orf50, LOC389199, C4orf48, CFAP99, MIR95, CPEB2-DT, DEFB131A, CLRN2, ZNF732, SCARNA22, MIR571, MIR572, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, LINC02447, PSAPL1, MIR943, LOC100129917, LOC100129931, LOC100130872, LINC02171, FAM90A26, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L15, MIR548I2, MIR4274, MIR3138, STX18-AS1, MIR378D1, MIR4800, MIR4798, HTT-AS, MIR5091, LOC101928279, LOC101928306, LINC02270, LINC01182, LOC101929095, LINC02493, LINC01396, STX18-IT1, LOC105374338, LOC105374344, LINC02482, LINC02517, LINC02360, LOC106804089, LOC107986211, LOC107992393, LOC109461479, SNORA75B, SNORD162, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
25.
GRCh37:
Chr4:68345-14614077
GRCh38:
Chr4:68453-14612453
ADD1, ADRA2C, ATP5ME, NKX3-2, CRMP1, CTBP1, DGKQ, DRD5, EVC, FGFR3, GAK, GRK4, HTT, HGFAC, HMX1, IDUA, LETM1, LRPAP1, MSX1, MYL5, PDE6B, PPP2R2C, RGS12, RNF4, S100P, SH3BP2, WFS1, NSD2, NELFA, ZNF141, SLBP, ACOX3, CPZ, NOP14, FAM193A, RAB28, KIAA0232, WDR1, HS3ST1, LINC01587, MFSD10, MAEA, PCGF3, SPON2, TACC3, MXD4, CPLX1, SLC26A1, MAN2B2, NSG1, GPR78, STX18, FGFRL1, CYTL1, SH3TC1, NKX1-1, PIGG, BLOC1S4, STK32B, LYAR, SLC2A9, TBC1D14, SORCS2, UVSSA, ZFYVE28, AFAP1, TNIP2, HAUS3, GRPEL1, SLC49A3, TMEM175, ABLIM2, AFAP1-AS1, TMEM128, ZNF518B, CTBP1-DT, TMEM129, MRFAP1, TADA2B, HTRA3, MRFAP1L1, CLNK, EVC2, OTOP1, ZNF595, LINC01085, JAKMIP1, FAM53A, TRMT44, ZBTB49, ZNF721, LINC00504, ZNF718, CCDC96, BOD1L1, CTBP1-AS, CRIPAK, LINC02495, DOK7, LINC00955, RNF212, LINC01097, LINC01096, NOP14-AS1, NAT8L, LINC002481, MSANTD1, POLN, C4orf50, LOC389199, C4orf48, CFAP99, MIR95, DEFB131A, ZNF732, SCARNA22, MIR571, MIR572, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, LINC02447, PSAPL1, MIR943, LOC100129917, LOC100129931, LOC100130872, LINC02171, FAM90A26, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L15, MIR548I2, MIR4274, MIR3138, STX18-AS1, MIR378D1, MIR4800, MIR4798, HTT-AS, MIR5091, LOC101928279, LOC101928306, LINC02270, LINC01182, LINC01396, STX18-IT1, LOC105374338, LOC105374344, LINC02482, LINC02517, LINC02360, LOC106804089, LOC107986211, LOC107992393, LOC109461479, SNORD162, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517
See casesPathogenic
(Nov 27, 2013)
no assertion criteria provided
26.
GRCh37:
Chr4:68345-8731855
GRCh38:
Chr4:68453-8730129
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
27.
GRCh37:
Chr4:36424-7361544
GRCh38:
Chr4:36424-7359817
See casesPathogenic
(Sep 4, 2012)
no assertion criteria provided
28.
GRCh37:
Chr4:4428130-17462172
GRCh38:
Chr4:4426403-17460549