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Items: 7

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:103790253
GRCh38:
Chr4:102869096
CISD2not specifiedGMAF:0.00100(A)
GO-ESP:0.00030(A)
Uncertain significance
(Jun 23, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr4:103806378
GRCh38:
Chr4:102885221
SLC9B1, CISD2Wolfram syndrome 2Pathogenic
(Oct 1, 2007)
no assertion criteria provided
3.
GRCh37:
Chr4:103806493
GRCh38:
Chr4:102885336
SLC9B1, CISD2not providedUncertain significance
(Jul 13, 2016)
criteria provided, single submitter
4.
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, KIAA0922, 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, FAM175A, 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, C4orf32, 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, DEFB131, 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
5.
GRCh38:
Chr4:102885132-102887186
SLC9B1, CISD2Wolfram syndrome 2Pathogenic
(Jul 24, 2014)
no assertion criteria provided
6.
GRCh37:
Chr4:97014044-137331362
GRCh38:
Chr4:96092893-136410207
ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ANK2, ANXA5, CAMK2D, CASP6, CCNA2, CENPE, COX7A2P2, EGF, EIF4E, ENPEP, FABP2, FGF2, H2AFZ, HADH, CFI, IL2, MAD2L1, MANBA, MTTP, NFKB1, PITX2, EXOSC9, PPP3CA, RAP1GDS1, RPL34, TACR3, TRPC3, UBE2D3, UGT8, PRSS12, LAMTOR3, PDE5A, PAPSS1, AIMP1, NDST3, SEC24D, TSPAN5, SPRY1, PGRMC2, SEC24B, RRH, PLK4, PRDM5, NUDT6, HSPA4L, METAP1, PPA2, DAPP1, DKK2, INTU, LEF1, LARP7, EMCN, MYOZ2, GAR1, USP53, TET2, ARHGEF38, MCUB, BANK1, LARP1B, BBS7, ZGRF1, AP1AR, BDH2, INTS12, ANKRD50, PCDH10, METTL14, OSTC, IL21, NEUROG2, SLC39A8, NDST4, ETNPPL, ELOVL6, NDNF, FAT4, ARSJ, GSTCD, TNIP3, JADE1, DNAJB14, ABHD18, ALPK1, CXXC4, PLA2G12A, SLC25A31, C4orf17, QRFPR, KIAA1109, COL25A1, FLJ20021, TIFA, TRMT10A, TBCK, CYP2U1, DDIT4L, SCLT1, C4orf33, TMEM155, PABPC4L, BTF3P13, ADAD1, C4orf32, TRAM1L1, SLC9B2, SLC9B1, SPATA5, BBS12, SGMS2, SYNPO2, NPNT, MFSD8, LOC256880, LINC01091, RPL34-AS1, STPG2, LRIT3, LINC01061, C4orf3, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, CISD2, LEF1-AS1, ZCCHC23, LOC645513, SNORA24, MIR576, MIR577, SNHG8, MIR297, TRC-GCA2-1, PP12613, MIR1243, MIR1255A, MIR2054, MIR1973, MIR3684, LOC100507053, GIMD1, LOC100507487, LINC00613, SEC24B-AS1, RNU6-34P, RNU6-35P, LINC01216, ARHGEF38-IT1, LOC100996694, IL21-AS1, STPG2-AS1, LINC01365, LOC101927087, LINC02379, LINC02466, LOC101927305, LOC101927359, LOC101929353, LINC02428, CXXC4-AS1, LOC101929529, LOC101929577, LOC101929595, LOC101929621, LOC101929741, LOC101929762, MIR8066, MIR8082, LOC102723704, LINC01378, LINC01256, TET2-AS1, LINC02267, LOC105377348, LINC02173, LOC105377372, LINC02262, LINC02263, LINC02264, LINC02377, LINC02462, LOC105377621, SNORA101A, LOC107986192
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr4:93834537-166220859
GRCh38:
Chr4:92913386-165299707
ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ANK2, ANXA5, ATOH1, BMPR1B, CAMK2D, CASP6, CCNA2, LRBA, CLGN, CENPE, COX7A2P2, CTSO, EDNRA, EGF, EIF4E, ELF2, ENPEP, ETFDH, FABP2, FGA, FGB, FGF2, FGG, GAB1, GK3P, GLRB, GRIA2, GRID2, GUCY1A3, GUCY1B3, GYPA, GYPB, GYPE, H2AFZ, HADH, CFI, IL2, IL15, MAD2L1, SMAD1, MANBA, MGST2, NR3C2, MTTP, NDUFC1, NFKB1, NPY1R, NPY2R, NPY5R, PDHA2, GATB, PITX2, PLRG1, EXOSC9, POU4F2, PPID, PPP3CA, RAP1GDS1, ABCE1, RPL34, RPS3A, SFRP2, TACR3, TDO2, TLR2, TRPC3, UBE2D3, UCP1, UGT8, SMARCA5, PRSS12, UNC5C, LAMTOR3, PDE5A, INPP4B, SNORD73A, PAPSS1, LRAT, AIMP1, NDST3, RAPGEF2, SEC24D, TSPAN5, SPRY1, ANAPC10, PGRMC2, SEC24B, MAB21L2, PDLIM5, RRH, PLK4, PRDM5, LSM6, NUDT6, KLHL2, HSPA4L, TBC1D9, METAP1, KIAA0922, TRIM2, ANP32C, SLC7A11, NOCT, PPA2, DAPP1, DKK2, INTU, ARFIP1, HPGDS, ZNF330, LEF1, FAM198B, LARP7, EMCN, MYOZ2, ASIC5, GAR1, PCDH18, USP53, DKFZP434I0714, OTUD4, TET2, DCHS2, ARHGEF38, MCUB, MARCH1, BANK1, LARP1B, BBS7, FBXW7, TMEM144, TMA16, ZGRF1, AP1AR, MAML3, TMEM184C, PDGFC, FSTL5, BDH2, SMARCAD1, INTS12, ANKRD50, RNF150, PCDH10, FNIP2, METTL14, OSTC, IL21, RXFP1, SCOC, NEUROG2, SLC39A8, HHIP, NDST4, ETNPPL, ELOVL6, NDNF, FAT4, ARSJ, ARHGAP10, GSTCD, MAP9, TNIP3, JADE1, DNAJB14, NAA15, ABHD18, ALPK1, CXXC4, SETD7, PLA2G12A, SLC25A31, RAB33B, TTC29, MND1, SLC10A7, TKTL2, C4orf17, QRFPR, KIAA1109, COL25A1, USP38, MGARP, FHDC1, FLJ20021, PRMT9, NAF1, TIFA, TRMT10A, TBCK, CYP2U1, SNORD73B, DDIT4L, SCLT1, C4orf33, TMEM155, PABPC4L, BTF3P13, ADAD1, C4orf32, TRAM1L1, SLC9B2, SLC9B1, ZNF827, SH3D19, MGAT4D, FAM218A, C4orf45, SPATA5, BBS12, DCLK2, TRIM60, FREM3, MMAA, RBM46, SGMS2, SYNPO2, C4orf46, TIGD4, TMEM154, TMEM192, ELMOD2, NPNT, MFSD8, LOC256880, LINC01091, IQCM, RPL34-AS1, RNF175, STPG2, LINC02433, PRSS48, LRIT3, TRIM61, LINC01061, C4orf3, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, CISD2, SLC7A11-AS1, LINC00616, LEF1-AS1, ZCCHC23, LOC645513, HHIP-AS1, C4orf51, SNORA24, MIR576, MIR577, LOC729307, FAM160A1, LOC729870, SNHG8, MIR297, SMARCA5-AS1, SCOC-AS1, TRC-GCA2-1, PP12613, MIR1243, MIR1255A, MIR2054, MIR1973, MIR548G, MIR3140, MIR3139, MIR3684, MIR3688-1, LINC01095, LINC01207, APELA, BMPR1B-AS1, LOC100507053, GIMD1, LOC100507487, LINC00613, LINC02432, SEC24B-AS1, MIR4453, MIR4454, MIR4799, MIR3688-2, RNU6-34P, RNU6-35P, LINC00499, LINC01216, ARHGEF38-IT1, LINC02273, LOC100996694, IL21-AS1, STPG2-AS1, LINC01365, LOC101927087, LINC02379, LINC02466, LOC101927305, LOC101927359, LOC101927636, SMAD1-AS2, LINC02355, LOC101928052, LOC101929210, LOC101929353, LINC02428, CXXC4-AS1, LOC101929529, LOC101929577, LOC101929595, LOC101929621, LOC101929741, LOC101929762, FBXW7-AS1, MIR7849, MIR8066, MIR8082, LOC102723704, LOC102724776, LINC01378, SMAD1-AS1, LINC01256, TET2-AS1, LINC02267, LOC105377348, LINC02173, LOC105377372, LINC02262, LINC02263, LINC02264, LINC02377, LINC02462, LINC02172, LOC105377448, LINC02276, LOC105377458, LINC02266, LOC105377480, LOC105377621, LOC105377623, SNORA101A, LOC107986192
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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