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Items: 20

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:621220-133779118
A2M, ACACB, ACADS, ASIC1, ACVR1B, TMEM117, TCHP, COQ5, LLPH, PYM1, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, COQ10A, ACVRL1, ADCY6, ALDH2, ABCD2, AMHR2, APAF1, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, LARP4, APOF, APOBEC1, AQP2, AQP5, AQP6, ARF3, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, ARHGEF25, ARHGDIB, ARL1, ART4, ASCL1, ATF1, ATP2A2, C12orf56, IQCD, AGAP2, DCD, RAB3IP, BORCS5, ATP2B1, ATP5F1B, ATP5MC2, AVPR1A, BCAT1, BCL7A, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, FAM186A, BICD1, BTG1, C1R, C1S, C3AR1, CACNA1C, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, TMEM132D, CACNB3, CCND2, CCNT1, CD4, CD9, CD27, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, TPH2, SCARB1, CD63, CD69, CDK2, CDK4, CDKN1B, SP7, GTSF1, OR10A7, KRT74, NEDD1, IKBIP, CHD4, CMKLR1, CNTN1, COL2A1, COX6A1, CPM, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, BTBD11, CREBL2, CRY1, CS, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNB3, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, C12orf60, FBXL14, RAD9B, PHETA1, TMTC2, CLEC12A, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, ZNF384, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, PGAM5, KRT78, RILPL2, DNAH10, AMN1, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, C12orf80, DPY19L2, CLEC9A, GAS2L3, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, TAFA2, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, CFAP73, TMEM233, KMT5A, OR6C1, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, ZNF705A, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, CLLU1, MIR492, HIGD1C, MAP1LC3B2, PRB2, LRTM2, MIR616, C12orf73, C12orf71, SLC15A5, LOC100049716, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, HOXC13-AS, ZNF891, RARG, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, EEA1, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, RXYLT1, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, EEF1AKMT3, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, RESF1, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, INTS13, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, SINHCAF, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000613617
2.
GRCh37:
Chr12:191619-133777645
IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, RAD51AP1, CAMKK2, AVIL, PTGES3, ZNF268, FRS2, IQSEC3, ZNF705A, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CLLU1, MIR492, HIGD1C, MAP1LC3B2, PRB2, LRTM2, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, MIR616, C12orf73, C12orf71, SLC15A5, LOC100049716, HOTAIR, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, HOXC13-AS, ZNF891, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, EEF1AKMT3, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, RESF1, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, INTS13, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, SINHCAF, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25, TMEM117, TCHP, COQ5, LLPH, PYM1, CCDC77, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, A2M, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ARHGEF25, C12orf56, IQCD, AGAP2, DCD, RAB3IP, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5F1B, BORCS5, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, ATP5MC2, AVPR1A, BCAT1, BCL7A, BICD1, BTG1, FAM186A, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, C1R, C1S, C3AR1, CACNA1C, CACNB3, CCND2, TMEM132D, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, CCNT1, CD4, CD9, CD27, SCARB1, CD63, CD69, TPH2, SP7, GTSF1, OR10A7, KRT74, NEDD1, CDK2, CDK4, CDKN1B, CHD4, CMKLR1, CNTN1, IKBIP, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, COL2A1, COX6A1, CPM, CREBL2, CRY1, CS, BTBD11, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNB3, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, C12orf60, FBXL14, RAD9B, PHETA1, TMTC2, CLEC12A, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, ZNF384, PGAM5, KRT78, RILPL2, DNAH10, AMN1, M6PR, MARS, MDM2, METTL1, KITLG, MGP, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, PRB3, PRB4, PRH1, PRH2, PRIM1, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, ADGRD1, MORN3, C12orf80, DPY19L2, CLEC9A, GAS2L3, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, MLF2, SSPN, KMT2D, AAAS, YEATS4, EEA1, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, TAFA2, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, CCDC184, C12orf75, CFAP73, TMEM233, KMT5A, OR6C1, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, RXYLT1, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000613610
3.
GRCh37:
Chr12:120367241-133777645
not providedPathogenic
(Jun 27, 2016)
no assertion criteria providedVCV000601434
4.
GRCh37:
Chr12:173787-133777902
NCKAP5L, NEUROD4, SINHCAF, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25, TMEM117, TCHP, COQ5, LLPH, PYM1, CCDC77, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, ARHGEF25, C12orf56, IQCD, AGAP2, DCD, RAB3IP, BORCS5, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, FAM186A, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, TMEM132D, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, TPH2, SP7, GTSF1, OR10A7, KRT74, NEDD1, IKBIP, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, BTBD11, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, C12orf60, FBXL14, RAD9B, PHETA1, TMTC2, CLEC12A, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, ZNF384, PGAM5, KRT78, RILPL2, DNAH10, AMN1, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, C12orf80, DPY19L2, CLEC9A, GAS2L3, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, TAFA2, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, CFAP73, TMEM233, KMT5A, OR6C1, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, IQSEC3, ZNF705A, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, CLLU1, MIR492, HIGD1C, MAP1LC3B2, PRB2, LRTM2, MIR616, C12orf73, C12orf71, SLC15A5, LOC100049716, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, HOXC13-AS, ZNF891, A2M, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5F1B, ATP5MC2, AVPR1A, BCAT1, BCL7A, BICD1, BTG1, C1R, C1S, C3AR1, CACNA1C, CACNB3, CCND2, CCNT1, CD4, CD9, CD27, SCARB1, CD63, CD69, CDK2, CDK4, CDKN1B, CHD4, CMKLR1, CNTN1, COL2A1, COX6A1, CPM, CREBL2, CRY1, CS, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNB3, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, EEA1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, RXYLT1, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, EEF1AKMT3, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, RESF1, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, INTS13, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000441984
5.
GRCh37:
Chr12:173787-133777902
KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, EEA1, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, RXYLT1, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, EEF1AKMT3, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, RESF1, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, INTS13, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, SINHCAF, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25, TMEM117, TCHP, COQ5, LLPH, PYM1, CCDC77, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, ARHGEF25, C12orf56, IQCD, AGAP2, DCD, RAB3IP, BORCS5, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, FAM186A, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, TMEM132D, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, TPH2, SP7, GTSF1, OR10A7, KRT74, NEDD1, IKBIP, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, BTBD11, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, C12orf60, FBXL14, RAD9B, PHETA1, TMTC2, CLEC12A, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, ZNF384, PGAM5, KRT78, RILPL2, DNAH10, AMN1, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, C12orf80, DPY19L2, CLEC9A, GAS2L3, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, TAFA2, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, CFAP73, TMEM233, KMT5A, OR6C1, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, IQSEC3, ZNF705A, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, CLLU1, MIR492, HIGD1C, MAP1LC3B2, PRB2, LRTM2, MIR616, C12orf73, C12orf71, SLC15A5, LOC100049716, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, HOXC13-AS, ZNF891, A2M, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5F1B, ATP5MC2, AVPR1A, BCAT1, BCL7A, BICD1, BTG1, C1R, C1S, C3AR1, CACNA1C, CACNB3, CCND2, CCNT1, CD4, CD9, CD27, SCARB1, CD63, CD69, CDK2, CDK4, CDKN1B, CHD4, CMKLR1, CNTN1, COL2A1, COX6A1, CPM, CREBL2, CRY1, CS, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNB3, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000441983
6.
GRCh37:
Chr12:121882818-122666131
See casesUncertain significanceno assertion criteria providedVCV000395963
7.
GRCh37:
Chr12:122614468-123019270
CLIP1, KNTC1, MLXIP, ZCCHC8, DIABLO, VPS33A, RSRC2, B3GNT4, LRRC43, IL31See casesUncertain significanceno assertion criteria providedVCV000394726
8.
GRCh37:
Chr12:1-133851895
TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, C12orf80, DPY19L2, CLEC9A, GAS2L3, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, TAFA2, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, CFAP73, TMEM233, KMT5A, OR6C1, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, IQSEC3, ZNF705A, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, CLLU1, MIR492, HIGD1C, MAP1LC3B2, ANHX, PRB2, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, LRTM2, MIR616, C12orf73, C12orf71, SLC15A5, LOC100049716, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, POC1B-GALNT4, HOXC13-AS, ZNF891, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, EEA1, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, RXYLT1, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, EEF1AKMT3, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, RESF1, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, INTS13, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, SINHCAF, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25, TMEM117, TCHP, COQ5, LLPH, PYM1, CCDC77, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, A2M, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ARHGEF25, C12orf56, IQCD, AGAP2, DCD, RAB3IP, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5F1B, BORCS5, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, ATP5MC2, AVPR1A, BCAT1, BCL7A, BICD1, BTG1, FAM186A, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, C1R, C1S, C3AR1, CACNA1C, CACNB3, CCND2, TMEM132D, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, CCNT1, CD4, CD9, CD27, SCARB1, CD63, CD69, CDK2, CDK4, CDKN1B, CHD4, CMKLR1, CNTN1, COL2A1, COX6A1, CPM, CREBL2, CRY1, CS, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNB3, TPH2, SP7, GTSF1, OR10A7, KRT74, NEDD1, IKBIP, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, BTBD11, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, C12orf60, FBXL14, RAD9B, PHETA1, TMTC2, CLEC12A, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, ZNF384, PGAM5, KRT78, RILPL2, DNAH10, AMN1, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2
See casesPathogenic
(Sep 20, 2016)
criteria provided, single submitterVCV000268075
9.
GRCh37:
Chr12:114706208-133777902
GRCh38:
Chr12:114268403-133201316
ACADS, BCL7A, SCARB1, COX6A1, EIF2B1, STX2, GOLGA3, GTF2H3, HPD, MMP17, MSI1, NOS1, P2RX4, P2RX7, PEBP1, PLA2G1B, POLE, PRKAB1, PSMD9, PXMP2, PXN, RAN, RFC5, RPLP0, CLIP1, SFSWAP, TBX5, TBX3, HNF1A, UBC, ZNF10, ZNF26, ZNF84, ZNF140, CDK2AP1, ULK1, DENR, OASL, DYNLL1, SRSF9, HRK, HCAR3, HIP1R, PIWIL1, CABP1, NCOR2, KNTC1, MLEC, RNF10, MPHOSPH9, CAMKK2, ZNF268, TMED2, GCN1, RAB35, SNRNP35, CIT, FZD10, MLXIP, P2RX2, FBXO21, SETD1B, ANKLE2, MED13L, SIRT4, ABCB9, RIMBP2, ATP6V0A2, FBXW8, HSPB8, RNU4-2, RNU4-1, HCAR1, GALNT9, ARL6IP4, TAOK3, POP5, ANAPC5, TRIAP1, RHOF, VSIG10, TESC, SBNO1, ZCCHC8, CHFR, WSB2, DIABLO, PITPNM2, EP400, DHX37, FBRSL1, DDX55, SUDS3, C12orf43, VPS33A, RSRC2, AACS, NOC4L, B3GNT4, OGFOD2, VPS37B, C12orf49, TCTN2, RNF34, CCDC92, PUS1, COQ5, SRRM4, CCDC62, KDM2B, UNC119B, ORAI1, RNFT2, C12orf65, TMEM132C, BICDL1, TMEM132B, LINC01257, TMEM132D, SLC15A4, SPPL3, BRI3BP, RFLNA, ZNF664, TMEM120B, WDR66, GLT1D1, LINC00934, CCDC60, PGAM5, RILPL2, DNAH10, LRRC43, TBX5-AS1, TMEM132D-AS1, ADGRD1, MORN3, LINC02825, KSR2, GATC, HNF1A-AS1, DDX51, HCAR2, LINC02370, LINC01089, RILPL1, IL31, TMEM233, KMT5A, LINC00944, LINC00939, LINC02393, LINC02372, FZD10-AS1, MAP1LC3B2, SNORA49, MIR620, TRF-GAA1-4, LOC100128276, LINC02347, MUC8, LOC100130238, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-9, TRD-GTC2-10, LINC02418, LINC00173, ZNF605, MIR1178, MIR4304, MIR3612, MIR3908, LOC100506551, PXN-AS1, NRAV, LOC100506691, LRCOL1, CLIP1-AS1, PITPNM2-AS1, LINC00943, ZNF664-RFLNA, MIR4498, MIR4419B, MIR4472-2, MIR4700, MIR5188, LINC00507, LINC02361, LOC100996671, LINC02369, ZNF891, LOC101593348, TMED2-DT, LINC02359, LINC02405, LINC02375, LINC02411, LINC02368, TMEM132D-AS2, TESC-AS1, LOC101928416, LOC101928530, LOC101928597, MIR7107, MIR6763, MIR6880, MIR8072, THRIL, LINC00508, LINC02460, LINC02423, LINC02440, LINC02439, LOC105370024, LINC02826, LINC02350, LINC02824, LINC02376, LOC105370068, LINC02441, LINC02419, LINC02414, XLOC_009911, ADGRD1-AS1, LOC106783497, LINC02415, LOC109280165, LOC109286556, SNORA9B, LOC110120878, LOC110599568, LOC111258525, LOC111258526, LOC111556143, LOC111776216, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, SBNO1-AS1, MIR9902-1, MIR9902-2, LOC113939933, LOC113939934
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155589
10.
GRCh37:
Chr12:122355664-128287262
GRCh38:
Chr12:121917758-127802717
See casesPathogenic
(Dec 17, 2012)
no assertion criteria providedVCV000155183
11.
GRCh37:
Chr12:121156589-127984760
GRCh38:
Chr12:120718786-127500215
See casesPathogenic
(Aug 19, 2010)
no assertion criteria providedVCV000154387
12.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, EEA1, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF,