S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Links from Gene

Items: 48

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:1081972-2179462
not providedUncertain significance
(Jun 9, 2011)
no assertion criteria provided
2.
GRCh37:
Chr7:993881-1142977
GPER1, ADAP1, CYP2W1, C7orf50, COX19, GPR146not providedBenign
(Dec 19, 2011)
no assertion criteria provided
3.
GRCh37:
Chr7:993173-1130584
GPER1, ADAP1, CYP2W1, C7orf50, COX19, GPR146not providedBenign
(Mar 15, 2013)
no assertion criteria provided
4.
GRCh37:
Chr7:44935-159126310
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, ABCB8, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, MAP11, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, CYREN, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, C7orf71, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPTIN14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, CASTOR3, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, OR2A25, ELFN1, AGMO, GRID2IP, OR2A5, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, OR2A7, OR2A42, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, ZNF727, OR2A2, SPDYE5, LMOD2, MIR335, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, ZNF862, WIPF3, STMP1, NCF1, ACTR3C, OCM, SNORA5C, MIR590, RSPH10B2, ZNF736, CASTOR2, SPDYE6, CRPPA, TMEM229A, ZNF735, LUZP6, MIR671, POM121C, HECW1-IT1, CTAGE4, SPATA48, ZNF316, LOC100134040, UPK3BL1, CTAGE8, RASA4B, SMKR1, ZNF783, SPDYE2B, HOTTIP, SAP25, MTRNR2L6, LINC00972, LRRC72, HOTAIRM1, TMEM178B, ATP5MF-PTCD1, RBAK-RBAKDN, KLHL7-DT, FMC1-LUC7L2, ZASP, LOC101928861
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
5.
GRCh37:
Chr7:10704-159122532
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, ABCB8, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, MAP11, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, CYREN, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, C7orf71, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPTIN14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, CASTOR3, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, OR2A25, ELFN1, AGMO, GRID2IP, OR2A5, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, OR2A7, OR2A42, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, ZNF727, OR2A2, SPDYE5, LMOD2, MIR335, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, ZNF862, WIPF3, STMP1, NCF1, ACTR3C, OCM, SNORA5C, MIR590, RSPH10B2, ZNF736, CASTOR2, SPDYE6, CRPPA, TMEM229A, ZNF735, LUZP6, MIR671, POM121C, HECW1-IT1, CTAGE4, SPATA48, ZNF316, LOC100134040, UPK3BL1, CTAGE8, RASA4B, SMKR1, ZNF783, SPDYE2B, HOTTIP, SAP25, MTRNR2L6, LINC00972, LRRC72, HOTAIRM1, TMEM178B, ATP5MF-PTCD1, RBAK-RBAKDN, KLHL7-DT, FMC1-LUC7L2, ZASP, LOC101928861
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
6.
GRCh37:
Chr7:10239-13116278
not providedPathogenic
(Oct 6, 2010)
no assertion criteria provided
7.
GRCh37:
Chr7:989696-1540461
GPER1, ADAP1, INTS1, CYP2W1, MICALL2, C7orf50, ZFAND2A, COX19, GPR146, UNCXnot providedUncertain significance
(Feb 26, 2018)
no assertion criteria provided
8.
GRCh37:
Chr7:967185-1261141
GPER1, ADAP1, CYP2W1, C7orf50, ZFAND2A, COX19, GPR146not providedLikely benign
(Dec 28, 2017)
no assertion criteria provided
9.
GRCh37:
Chr7:43360-3642604
See casesPathogenic
(May 18, 2015)
no assertion criteria provided
10.
GRCh37:
Chr7:43360-2057743
See casesLikely pathogenic
(Sep 1, 2015)
no assertion criteria provided
11.
GRCh37:
Chr7:43360-12098696
See casesPathogenic
(Aug 27, 2015)
no assertion criteria provided
12.
GRCh37:
Chr7:43361-159119707
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, ABCB8, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, MAP11, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, CYREN, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, C7orf71, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPTIN14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, CASTOR3, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, OR2A25, ELFN1, AGMO, GRID2IP, OR2A5, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, OR2A7, OR2A42, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, ZNF727, OR2A2, SPDYE5, LMOD2, MIR335, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, ZNF862, WIPF3, STMP1, NCF1, ACTR3C, OCM, SNORA5C, MIR590, RSPH10B2, ZNF736, CASTOR2, SPDYE6, CRPPA, TMEM229A, ZNF735, LUZP6, MIR671, POM121C, HECW1-IT1, CTAGE4, SPATA48, ZNF316, LOC100134040, UPK3BL1, CTAGE8, RASA4B, SMKR1, ZNF783, SPDYE2B, HOTTIP, SAP25, MTRNR2L6, LINC00972, LRRC72, HOTAIRM1, TMEM178B, ATP5MF-PTCD1, RBAK-RBAKDN, KLHL7-DT, FMC1-LUC7L2, ZASP, LOC101928861
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
13.
GRCh37:
Chr7:43361-159119707
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, ABCB8, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, MAP11, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, CYREN, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, C7orf71, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPTIN14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, CASTOR3, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, OR2A25, ELFN1, AGMO, GRID2IP, OR2A5, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, OR2A7, OR2A42, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, ZNF727, OR2A2, SPDYE5, LMOD2, MIR335, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, ZNF862, WIPF3, STMP1, NCF1, ACTR3C, OCM, SNORA5C, MIR590, RSPH10B2, ZNF736, CASTOR2, SPDYE6, CRPPA, TMEM229A, ZNF735, LUZP6, MIR671, POM121C, HECW1-IT1, CTAGE4, SPATA48, ZNF316, LOC100134040, UPK3BL1, CTAGE8, RASA4B, SMKR1, ZNF783, SPDYE2B, HOTTIP, SAP25, MTRNR2L6, LINC00972, LRRC72, HOTAIRM1, TMEM178B, ATP5MF-PTCD1, RBAK-RBAKDN, KLHL7-DT, FMC1-LUC7L2, ZASP, LOC101928861
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
14.
GRCh37:
Chr7:704573-29257946
See casesPathogenic
(Mar 16, 2015)
no assertion criteria provided
15.
GRCh37:
Chr7:43360-23674928
See casesPathogenic
(Sep 30, 2014)
no assertion criteria provided
16.
GRCh37:
Chr7:43360-11567351
See casesPathogenic
(Jan 12, 2015)
no assertion criteria provided
17.
GRCh37:
Chr7:43360-14664158
See casesPathogenic
(May 16, 2014)
no assertion criteria provided
18.
GRCh37:
Chr7:43360-17656861
See casesPathogenicno assertion criteria provided
19.
GRCh37:
Chr7:43360-159119707
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, ABCB8, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, MAP11, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, CYREN, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, C7orf71, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPTIN14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, CASTOR3, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, OR2A25, ELFN1, AGMO, GRID2IP, OR2A5, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, OR2A7, OR2A42, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, ZNF727, OR2A2, SPDYE5, LMOD2, MIR335, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, ZNF862, WIPF3, STMP1, NCF1, ACTR3C, OCM, SNORA5C, MIR590, RSPH10B2, ZNF736, CASTOR2, SPDYE6, CRPPA, TMEM229A, ZNF735, LUZP6, MIR671, POM121C, HECW1-IT1, CTAGE4, SPATA48, ZNF316, LOC100134040, UPK3BL1, CTAGE8, RASA4B, SMKR1, ZNF783, SPDYE2B, HOTTIP, SAP25, MTRNR2L6, LINC00972, LRRC72, HOTAIRM1, TMEM178B, ATP5MF-PTCD1, RBAK-RBAKDN, KLHL7-DT, FMC1-LUC7L2, ZASP, LOC101928861
See casesPathogenicno assertion criteria provided
20.
GRCh37:
Chr7:43360-2825753
See casesLikely pathogenicno assertion criteria provided
21.
GRCh37:
Chr7:43360-5443709
See casesPathogenicno assertion criteria provided
22.
GRCh37:
Chr7:1126463-1194990
GPER1, C7orf50, ZFAND2ASee casesLikely benignno assertion criteria provided
23.
GRCh37:
Chr7:183556-12746636
See casesPathogenicno assertion criteria provided
24.
GRCh37:
Chr7:1004794-4063934
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr7:54185-1883220
GRCh38:
Chr7:54185-1843584
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr7:43360-27236023
GRCh38:
Chr7:43360-27196404
ACTB, AHR, DGKB, GSDME, ETV1, GNA12, GPER1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, ICA1, IL6, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PDGFA, PMS2, PRKAR1B, RAC1, RPA3, FSCN1, SP4, TWIST1, ZNF12, AIMP2, MAFK, MAD1L1, EIF3B, DNAH11, SKAP2, CYTH3, NFE2L3, PHF14, HDAC9, RAPGEF5, KIAA0087, AP5Z1, ARL4A, GPNMB, AGR2, IGF2BP3, KDELR2, ADAP1, NUP42, CBX3, SNX13, IQCE, SUN1, SOSTDC1, OSBPL3, WIPI2, INTS1, TSPAN13, EIF2AK1, BZW2, SNX8, SNX10, TRA2A, MRM2, NXPH1, GET4, CCZ1, MPP6, CYCS, MIOS, RNF216, TOMM7, TMEM106B, ZNF853, CYP2W1, DNAAF5, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, FAM20C, ANKMY2, RBAK, NPVF, C7orf26, MGC4859, MICALL2, FBXL18, TTYH3, USP42, PSMG3, C7orf50, CARD11, TNRC18, FAM126A, FAM220A, SCIN, ZFAND2A, COX19, CCDC126, GLCCI1, PSMG3-AS1, GPR146, MALSU1, C7orf31, AMZ1, AGR3, TMEM184A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, FERD3L, SLC29A4, RSPH10B, TMEM196, STEAP1B, C7orf71, HOXA-AS2, UNCX, COL28A1, ABCB5, FAM221A, MACC1, RBAKDN, ELFN1, AGMO, GRID2IP, LNCRI, LOC401312, GRIFIN, MIR148A, LOC441204, HRAT92, LOC442497, MIR339, MIR196B, LOC541472, LOC646588, OCM, SNORD93, MIR589, RSPH10B2, UMAD1, CRPPA, LOC100128653, LOC100129484, LOC100129603, ZNF316, LOC100131472, HOXA-AS3, WI2-2373I1.2, MIR1183, MIR1302-6, ANKRD61, MIR3146, MIR3683, LOC100505921, LOC100505938, CRPPA-AS1, LRRC72, LOC100506098, LOC100506178, HOTAIRM1, LOC100507642, RBAK-RBAKDN, HOXA10-HOXA9, MIR4648, MIR4655, MIR4656, KLHL7-DT, MACC1-AS1, HOXA10-AS, RNF216-IT1, LOC101926963, LOC101927000, LOC101927021, ELFN1-AS1, LOC101927181, LOC101927354, LOC101927391, LINC02587, LOC101927630, LOC101927668, LOC101927769, LOC101927811, MIR6836, MIR6874, KCCAT333, LOC102723672, LOC102725191, LINC01162, LOC105375115, LOC105375131,