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Items: 13

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr7:12258147-140494267
ACHE, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK6, CFTR, CHN2, CHRM2, AP1S1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EPHB4, EPO, ERV3-1, ETV1, EVX1, FLNC, GARS1, NIPSNAP2, GCK, GHRHR, GLI3, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HUS1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, IRF5, ITGB8, KCND2, LAMB1, LEP, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, MUC3A, NDUFA5, NDUFB2, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR2B, RELN, PSMA2, PSMC2, PSPH, PTN, PTPN12, PTPRZ1, PURB, RALA, RFC2, RNU2-1, RP9, CCL24, SFRP4, SLC13A1, SMO, SP4, SPAM1, SRI, AKR1D1, SRPK2, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, ZAN, EIF4H, CLIP2, LAT2, WNT2, YWHAG, ZNF3, ZKSCAN1, ZSCAN21, ZNF138, ZP3, MTERF1, SEM1, TFPI2, ST7, TRRAP, FZD1, FZD9, TPST1, FKBP6, CDK13, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, BCL7B, ATP6V1F, PMPCB, ATP5MF, GTF2IRD1, CREB5, NFE2L3, SEMA3E, DOCK4, HDAC9, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, DMTF1, 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, DBF4, COPS6, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, KLHDC10, HECW1, AVL9, PEG10, NACAD, SNX13, NUP205, COBL, DPY19L1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, AUTS2, TES, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, SND1, VPS41, TSPAN13, DENND2A, BBS9, CRCP, RABGEF1, POLM, PCLO, BZW2, DBNL, WDR91, NPC1L1, SNX10, TRA2A, HILPDA, MDFIC, PILRA, FSCN3, ERVW-1, ATP6V0A4, PNPLA8, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, ZNF107, ZC3HC1, SRRT, UBE2D4, LUC7L2, STYXL1, ASB4, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, ANLN, ANKIB1, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ALKBH4, SAMD9, CHCHD3, FKBP14, ZCWPW1, TMEM248, RBM28, TYW1, MAP11, TMEM140, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, COA1, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, ANKRD7, ZC3HAV1, SLC12A9, SDHAF3, YAE1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, RHBDD2, STRIP2, CCDC146, KIAA1549, GATAD1, NFE4, MYL7, EXOC4, RINT1, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, GALNT17, TMEM168, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, CYREN, GGCT, C7orf25, ZNF655, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, SUGCT, CFAP69, CBLL1, CPED1, TTC26, C7orf69, ORAI2, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, GTF2IRD2, MINDY4, SLC37A3, DNAJC30, FAM126A, FAM71F1, PLEKHA8, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AZ2, CEP41, DTX2, BUD23, TSGA13, MALSU1, TMEM270, TRIM50, COL26A1, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, METTL27, VPS37D, AGR3, ZNF92, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, BHLHA15, BMPER, ZNF800, ABHD11-AS1, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, STEAP2, POM121L12, LINC02860, SPDYE1, SNHG15, ZNF789, LSMEM1, MESTIT1, ST7-OT4, ZNF680, ABCB5, FAM221A, TSPAN33, AGBL3, SEPTIN14, MACC1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, GJC3, CASTOR3, GPR141, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, AGMO, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, ZNF727, SPDYE5, LMOD2, MIR335, MIR196B, TARP, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, WIPF3, STMP1, NCF1, SNORA5C, MIR590, ZNF736, CASTOR2, SPDYE6, CRPPA, TMEM229A, ZNF735, LUZP6, POM121C, HECW1-IT1, SPATA48, UPK3BL1, RASA4B, SMKR1, SPDYE2B, HOTTIP, SAP25, LINC00972, LRRC72, HOTAIRM1, ATP5MF-PTCD1, KLHL7-DT, FMC1-LUC7L2, ZASP, LOC101928861
Pleomorphic xanthoastrocytomaPathogenicno assertion criteria providedVCV000402244
2.
GRCh37:
Chr7:73591993-93683437
not providedUncertain significance
(Mar 22, 2018)
criteria provided, single submitterVCV000560111
3.
GRCh37:
Chr7:79337679-86790392
GRCh38:
Chr7:79708363-87161076
Intellectual disability, SeizuresLikely pathogenicno assertion criteria providedVCV000254280
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, GARS1, 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, 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, DENND11, 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, H2AZ2, 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, LINC02860, 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 providedVCV000609644
5.
GRCh37:
Chr7:10704-159122532
FMC1-LUC7L2, ZASP, LOC101928861, ACHE, AOC1, 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, ETV1, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, EVX1, EZH2, FLNC, GARS1, 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, 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, DENND11, 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, H2AZ2, 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, LINC02860, 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
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000609642
6.
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, GARS1, 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, 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, DENND11, 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, H2AZ2, 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, LINC02860, 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 providedVCV000442834
7.
GRCh37:
Chr7:43361-159119707
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, LINC02860, 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, 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, ETV1, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, EVX1, EZH2, FLNC, GARS1, 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, 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, DENND11, 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, H2AZ2, 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
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000442833
8.
GRCh37:
Chr7:43360-159119707
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, 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, GARS1, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, HOXA5, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, 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, 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, DENND11, 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, H2AZ2, 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, LINC02860, 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
See casesPathogenicno assertion criteria providedVCV000396549
9.
GRCh37:
Chr7:20954043-114556605
ZNF727, SPDYE5, MIR196B, TARP, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, WIPF3, NCF1, SNORA5C, MIR590, ZNF736, CASTOR2, SPDYE6, ZNF735, POM121C, HECW1-IT1, SPATA48, UPK3BL1, RASA4B, SPDYE2B, HOTTIP, SAP25, LINC00972, HOTAIRM1, ATP5MF-PTCD1, KLHL7-DT, ZASP, ACHE, ADCY1, ADCYAP1R1, AEBP1, AMPH, AOAH, AQP1, ASL, ASNS, AZGP1, BLVRA, CACNA2D1, CALCR, CAMK2B, KRIT1, CCT6A, CD36, SEPTIN7, CDK6, CHN2, AP1S1, COL1A2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EPHB4, EPO, ERV3-1, EVX1, GARS1, NIPSNAP2, GCK, GHRHR, GLI3, GNAI1, GNB2, GNG11, GNGT1, GPR22, GRB10, GRM3, GTF2I, GUSB, HGF, HIP1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HUS1, IFRD1, IGFBP1, IGFBP3, IL6, INHBA, LAMB1, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MUC3A, NPY, NPTX2, NRCAM, OCM2, OGDH, ORC5, SERPINE1, PCOLCE, PDE1C, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR2B, RELN, PSMA2, PSMC2, PSPH, PTPN12, PURB, RALA, RFC2, RP9, CCL24, SFRP4, SP4, SRI, SRPK2, STX1A, SYPL1, TAC1, TAF6, TFR2, TRIP6, UPP1, VGF, ZAN, EIF4H, CLIP2, LAT2, YWHAG, ZNF3, ZKSCAN1, ZSCAN21, ZNF138, ZP3, MTERF1, SEM1, TFPI2, TRRAP, FZD1, FZD9, TPST1, FKBP6, CDK13, DNAH11, TAX1BP1, BUD31, SGCE, SKAP2, PLOD3, BAZ1B, CLDN12, AP4M1, TBRG4, STK17A, BCL7B, PMPCB, ATP5MF, GTF2IRD1, CREB5, NFE2L3, SEMA3E, DOCK4, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, DMTF1, MUC12, ARPC1B, NAMPT, AKAP9, RASA4, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, GPNMB, COG5, ZNHIT1, SEMA3C, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, DBF4, COPS6, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, POU6F2, FKBP9, PDAP1, CBX3, LAMB4, LMTK2, POMZP3, HECW1, AVL9, PEG10, NACAD, COBL, DPY19L1, KIAA0895, NUDCD3, SEC61G, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, KBTBD2, PTCD1, OSBPL3, AUTS2, FBXO24, TBL2, STEAP1, HBP1, DNAJC2, VPS41, BBS9, CRCP, RABGEF1, POLM, PCLO, DBNL, NPC1L1, SNX10, TRA2A, PILRA, ERVW-1, PNPLA8, FIS1, MLXIPL, SBDS, CHCHD2, NT5C3A, NME8, ZNF117, MRPS17, ACTL6B, ZNF107, SRRT, UBE2D4, STYXL1, ASB4, MPP6, ADAM22, GSAP, CYCS, GPR85, ANLN, ANKIB1, CPVL, PUS7, TOMM7, DDX56, LRRN3, CROT, EPDR1, ALKBH4, SAMD9, FKBP14, ZCWPW1, TMEM248, TYW1, MAP11, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, COA1, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, SLC12A9, SDHAF3, YAE1, TBX20, SMURF1, PHTF2, RHBDD2, CCDC146, GATAD1, NFE4, MYL7, RINT1, NEUROD6, FIGNL1, MYO1G, NPVF, HERPUD2, GALNT17, TMEM168, MOSPD3, GIGYF1, TNS3, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, GGCT, C7orf25, ZNF655, PVRIG, TMEM243, STEAP4, GAL3ST4, PRKRIP1, SUGCT, CFAP69, CBLL1, C7orf69, ORAI2, EEPD1, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, RBM48, ZNF394, GTF2IRD2, MINDY4, DNAJC30, FAM126A, PLEKHA8, TMEM60, GTPBP10, TRIM4, CCDC126, ZNF479, MYL10, FOXP2, H2AZ2, DTX2, BUD23, MALSU1, TMEM270, TRIM50, COL26A1, C7orf57, MPLKIP, SSC4D, C7orf31, MUC17, RUNDC3B, ABCA13, BMT2, VKORC1L1, KCTD7, C7orf66, METTL27, VPS37D, ZNF92, ZNF679, THAP5, CCDC71L, PKD1L1, BHLHA15, BMPER, ABHD11-AS1, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, HOXA11-AS, JAZF1, PPP1R35, GPC2, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, NYAP1, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, MBLAC1, STEAP1B, SUN3, FAM133B, STEAP2, POM121L12, LINC02860, SPDYE1, SNHG15, ZNF789, LSMEM1, ZNF680, FAM221A, SEPTIN14, GNAT3, MOGAT3, ZNF713, GJC3, CASTOR3, GPR141, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, TRIM74, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, C7orf65, LRRD1, C7orf76, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR25, MIR93, ZNF716, TYW1B, SPDYE3, SPDYE2
Speech-language disorder 1Pathogenic
(Mar 2, 2016)
no assertion criteria providedVCV000242972
10.
GRCh37:
Chr7:83631950-94858195
GRCh38:
Chr7:84002634-95228883
See casesPathogenic
(Feb 13, 2013)
no assertion criteria providedVCV000155204
11.
GRCh37:
Chr7:54185-159075079
GRCh38:
Chr7:54185-159282390