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Items: 12

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:54245255
GRCh38:
Chr4:53379088
FIP1L1not specifiednot provided
(Sep 19, 2013)
no assertion provided
2.
GRCh37:
Chr4:54257655
GRCh38:
Chr4:53391488
FIP1L1not specifiednot provided
(Sep 19, 2013)
no assertion provided
3.
GRCh37:
Chr4:54265975
GRCh38:
Chr4:53399808
FIP1L1not specifiednot provided
(Sep 19, 2013)
no assertion provided
4.
GRCh37:
Chr4:54310281
GRCh38:
Chr4:53444114
FIP1L1not specifiedBenign
(Feb 21, 2013)
criteria provided, single submitter
5.
GRCh37:
Chr4:54027934-54386267
FIP1L1, LNX1, SCFD2See casesUncertain significanceno assertion criteria provided
6.
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, ATP5I, NKX3-2, BMP3, BMPR1B, BST1, BTC, CAMK2D, CASP3, CASP6, CCKAR, CCNA2, CCNG2, SCARB2, CD38, LRBA, CDS1, CLGN, CENPC, CENPE, CLCN3, CNGA1, COX7A2P2, 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, GK3P, GLRB, GNRHR, GPM6A, GRK4, GRIA2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, GUCY1A3, GUCY1B3, 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, PPBPP2, MORF4, 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, MFSD7, 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, BTF3P13, 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, C4orf26, 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, C4orf22, 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, GCOM2, TRIML1, LRRC66, NAT8L, LOC344967, PRSS48, SOWAHB, LRIT3, MSANTD1, SLC10A6, HSD17B13, ANKRD37, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, TMPRSS11F, USP17L9P, TRIM61, HELT, C4orf48, DTHD1, SYT14P1, PRR27, AMTN, CCSER1, C4orf3, MIR302A, MIR95, MTHFD2L, TMEM150C, C4orf47, GALNTL6, MIR302B, MIR302C, MIR302D, MIR367, CISD2, UGT2A2, DEFB131A, CLRN2, C4orf51, ZNF732, SNORA26, PPBPP1, 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
7.
GRCh37:
Chr4:53505185-60850197
GRCh38:
Chr4:52639018-59984479
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr4:52766026-60850197
GRCh38:
Chr4:51899860-59984479
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr4:52697788-98426769
GRCh38:
Chr4:51831622-97505618
AFM, AFP, ALB, AMBN, ANXA3, AREG, ART3, ATOH1, BMP3, BMPR1B, BTC, CCNG2, SCARB2, CDS1, CENPC, COX7A2P2, 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, PPBPP2, 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, SEPT11, 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, C4orf26, PPM1K, RASGEF1B, TIGD2, RASSF6, GSX2, CNOT6L, TECRL, C4orf22, IGFBP7-AS1, EPGN, FDCSP, NAP1L5, FAM13A-AS1, GPRIN3, COX18, STPG2, CCDC158, TMPRSS11A, GCOM2, LRRC66, LINC02260, SOWAHB, SLC10A6, HSD17B13, TMPRSS11F, LINC02232, SYT14P1, PRR27, AMTN, CCSER1, WDFY3-AS2, LINC00575, MTHFD2L, LINC02483, TMEM150C, UBA6-AS1, LOC550113, UGT2A2, USP46-AS1, SNCA-AS1, SNORA26, MIR575, LOC728040, PPBPP1, FAM47E, EPHA5-AS1, ERVMER34-1, MIR1269A, THAP9-AS1, LINC01094, LINC01088, LINC00989, LOC100506444, SRD5A3-AS1, THEGL, AFF1-AS1, BMPR1B-AS1, LOC100507388, MIR548AH, MIR4450, MIR4451, MIR5096, MIR4449, MIR548AG1, MIR4452, FAM47E-STBD1, MIR5705, RNU6-33P, RNU6-34P, LNX1-AS1, LNX1-AS2, PYURF, STPG2-AS1, ADGRL3-AS1, LOC101927237, LOC101928809, LINC02380, LOC101928942, LOC101928978, LOC101929064, LOC101929134, LNCPRESS2, LOC101929210, LOC105369192, LOC105377245, LINC02429, LINC02271, LOC105377267, LINC02267, LINC02480, LINC02283, LOC105377671, SNORD143, SNORD144
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr4:52697788-67857207
GRCh38:
Chr4:51831622-66991489
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr4:52736191-55968559
GRCh38:
Chr4:51870025-55102392
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr4:44358218-63111600
GRCh38:
Chr4:44356201-62245882
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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