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VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:173787-133777902
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, KIAA1551, 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, FAM19A2, 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
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
2.
GRCh37:
Chr12:173787-133777902
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, KIAA1551, 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, FAM19A2, 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
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
3.
GRCh37:
Chr12:37857750-49791459
See casesPathogenicno assertion criteria provided
4.
GRCh37:
Chr12:48240472-48265006
VDRSee casesLikely benignno assertion criteria provided
5.
GRCh37:
Chr12:48238786
GRCh38:
Chr12:47845003
VDRnot providedLikely pathogenic
(Nov 8, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr12:48298782
GRCh38:
Chr12:47904999
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr12:48293738
GRCh38:
Chr12:47899955
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr12:48293716
GRCh38:
Chr12:47899933
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr12:48293682
GRCh38:
Chr12:47899899
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr12:48293605
GRCh38:
Chr12:47899822
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr12:48276486
GRCh38:
Chr12:47882703
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr12:48272895
GRCh38:
Chr12:47879112
VDRnot specified, Vitamin D-Dependent Rickets, peginterferon alfa-2b and ribavirin response - Efficacy
drug response
(Mar 1, 2017)
reviewed by expert panel
13.
GRCh37:
Chr12:48272743
GRCh38:
Chr12:47878960
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr12:48272742
GRCh38:
Chr12:47878959
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr12:48251476
GRCh38:
Chr12:47857693
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr12:48249400
GRCh38:
Chr12:47855617
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr12:48240458
GRCh38:
Chr12:47846675
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr12:48240248
GRCh38:
Chr12:47846465
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr12:48240233
GRCh38:
Chr12:47846450
VDRnot specified, Vitamin D-Dependent RicketsConflicting interpretations of pathogenicity
(Nov 7, 2016)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr12:48240197
GRCh38:
Chr12:47846414
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr12:48238765
GRCh38:
Chr12:47844982
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr12:48238757
GRCh38:
Chr12:47844974
VDRnot specified, Vitamin D-Dependent RicketsBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr12:48238682
GRCh38:
Chr12:47844899
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr12:48238679
GRCh38:
Chr12:47844896
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr12:48238661
GRCh38:
Chr12:47844878
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr12:48238459
GRCh38:
Chr12:47844676
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr12:48238432
GRCh38:
Chr12:47844649
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr12:48238418
GRCh38:
Chr12:47844635
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr12:48238345
GRCh38:
Chr12:47844562
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr12:48238231
GRCh38:
Chr12:47844448
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr12:48238221
GRCh38:
Chr12:47844438
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr12:48238142
GRCh38:
Chr12:47844359
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr12:48238124
GRCh38:
Chr12:47844341
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr12:48238121
GRCh38:
Chr12:47844338
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr12:48238120
GRCh38:
Chr12:47844337
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr12:48238092
GRCh38:
Chr12:47844309
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr12:48238068
GRCh38:
Chr12:47844285
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr12:48238042
GRCh38:
Chr12:47844259
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr12:48237995
GRCh38:
Chr12:47844212
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr12:48237781
GRCh38:
Chr12:47843998
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr12:48237702
GRCh38:
Chr12:47843919
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr12:48237652
GRCh38:
Chr12:47843869
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr12:48237647
GRCh38:
Chr12:47843864
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr12:48237576-48237578
GRCh38:
Chr12:47843793-47843795
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr12:48237351
GRCh38:
Chr12:47843568
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr12:48237350
GRCh38:
Chr12:47843567
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr12:48237338
GRCh38:
Chr12:47843555
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr12:48237303
GRCh38:
Chr12:47843520
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr12:48237280-48237284
GRCh38:
Chr12:47843497-47843501
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr12:48237276
GRCh38:
Chr12:47843493
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr12:48237210
GRCh38:
Chr12:47843427
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr12:48237109
GRCh38:
Chr12:47843326
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr12:48237052
GRCh38:
Chr12:47843269
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr12:48237047
GRCh38:
Chr12:47843264
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr12:48236863
GRCh38:
Chr12:47843080
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr12:48236724
GRCh38:
Chr12:47842941
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr12:48236664
GRCh38:
Chr12:47842881
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr12:48236623
GRCh38:
Chr12:47842840
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr12:48236550
GRCh38:
Chr12:47842767
VDRVitamin D-Dependent RicketsBenign
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr12:48236547
GRCh38:
Chr12:47842764
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr12:48236537
GRCh38:
Chr12:47842754
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr12:48236506
GRCh38:
Chr12:47842723
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr12:48236495
GRCh38:
Chr12:47842712
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr12:48236427
GRCh38:
Chr12:47842644
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr12:48236427
GRCh38:
Chr12:47842644
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr12:48236424-48236429
GRCh38:
Chr12:47842641-47842646
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr12:48236407-48236412
GRCh38:
Chr12:47842624-47842629
VDRVitamin D-Dependent RicketsBenign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr12:48236407
GRCh38:
Chr12:47842624
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr12:48236407-48236411
GRCh38:
Chr12:47842624-47842628
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr12:48236405
GRCh38:
Chr12:47842622
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr12:48236386
GRCh38:
Chr12:47842603
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr12:48236361
GRCh38:
Chr12:47842578
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr12:48236303
GRCh38:
Chr12:47842520
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr12:48236302
GRCh38:
Chr12:47842519
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr12:48236266
GRCh38:
Chr12:47842483
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr12:48236201
GRCh38:
Chr12:47842418
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr12:48236170
GRCh38:
Chr12:47842387
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr12:48236138
GRCh38:
Chr12:47842355
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr12:48236116
GRCh38:
Chr12:47842333
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr12:48236073
GRCh38:
Chr12:47842290
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr12:48235936
GRCh38:
Chr12:47842153
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr12:48235871
GRCh38:
Chr12:47842088
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr12:48235738
GRCh38:
Chr12:47841955
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr12:48235702
GRCh38:
Chr12:47841919
VDRVitamin D-Dependent RicketsLikely benign
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr12:48235651
GRCh38:
Chr12:47841868
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr12:48235629
GRCh38:
Chr12:47841846
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr12:48235556
GRCh38:
Chr12:47841773
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr12:48235555
GRCh38:
Chr12:47841772
VDRVitamin D-Dependent RicketsUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr12:1-133851895
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, KIAA1551, 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, FAM19A2, 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, ANHX, PRB2, LRTM2, MIR616, C12orf73, C12orf71, SLC15A5, LOC100049716, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, HOXC13-AS, ZNF891
See casesPathogenic
(Sep 20, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr12:48238623
GRCh38:
Chr12:47844840
VDRVitamin D-dependent rickets, type 2Pathogenic
(May 3, 2016)
no assertion criteria provided
91.
GRCh37:
Chr12:48238642
GRCh38:
Chr12:47844859
VDRVitamin D-dependent rickets, type 2Pathogenic
(May 3, 2016)
no assertion criteria provided
92.
GRCh37:
Chr12:31886971-50360461
See casesPathogenic
(Dec 18, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
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, SNORD59A, RNU4-2, RNU4-1, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, GALNT9, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, MAPKAPK5-AS1, 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, KIAA1551, 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, FLJ13224, 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, FAM222A-AS1, 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, LINC01257, 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, LINC00477, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, SOCS2-AS1, CEP83-DT, KRT80, CFAP54, A2ML1, A2M-AS1, C12orf66, C12orf60, FBXL14, RAD9B, PHETA1, LINC00934, 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, LINC00612, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, EIF2S3B, TCP11L2, TEX49, TBX5-AS1, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, C1RL-AS1, CD163L1, LINC02396, LOC283335, ZNF740, RASSF3, TMEM132D-AS1, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, LOC283387, TRHDE-AS1, C12orf80, LINC00592, LINC01465, DPY19L2, CLEC9A, LINC01559, GAS2L3, LINC00485, LOC283435, ITFG2-AS1, MYO1H, HECTD4, KSR2, GATC, HNF1A-AS1, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, ATP2B1-AS1, C1QL4, TMEM119, KRT79, LINC02370, LINC01089, C12orf74, FAM19A2, LINC01252, 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, LINC00944, LINC00937, OR6C1, OR6C75, OR6C76, OR6C70, CLEC12A-AS1, LINC00938, LINC02381, LINC02389, C12orf76, LINC00939, LINC02393, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR135A2, MIR141, MIR196A2, MIR200C, MIR26A2, LOC414300, LINC00615, IQSEC3, ZNF705A, FAM66C, LOC440084, SMCO3, H3F3C, DBX2, FLJ12825, PLEKHG7, LINC02372, FZD10-DT, TSPAN11, OR9K2, MIR148B, MIR331, EID3, LOH12CR2, ATXN7L3B, CLLU1OS, CLLU1, MIR492, LOC574538, HIGD1C, LOC642846, MAP1LC3B2, LOC643339, LINC02453, LOC645177, LOC645485, PRB2, LRTM2, SCARNA12, SCARNA11, SNORA2A, SNORA2B, SNORA2C, SNORA49, SNORA53, CD27-AS1, SNORD59B, SCARNA10, GRASP-AS1, MIR548C, MIR613, MIR614, MIR615, MIR616, MIR617, MIR618, MIR619, MIR620, LINC02458, C12orf73, LOC728715, C12orf71, SLC15A5, LOC729291, TRF-GAA1-4, LOC100049716, HOTAIR, MIR920, KRT73-AS1, TMPO-AS1, LOC100128253, LOC100128276, LINC02347, THCAT155, SMIM10L1, MUC8, HMGA2-AS1, LOC100130238, LOC100130268, AGAP2-AS1, LINC01405, USP30-AS1, RNU7-1, TRS-CGA4-1, TRW-CCA4-1, TRD-GTC1-1, TRA-TGC3-2, TRD-GTC2-8, TRA-TGC4-1, TRD-GTC2-9, TRD-GTC2-10, LINC02418, PCED1B-AS1, LOC100240734, LOC100240735, LINC00940, BCDIN3D-AS1, MANSC4, LINC00941, LINC00173, LOC100287944, LOC100288798, ZNF605, LINC00942, MIR1252, MIR1279, MIR1228, MIR1827, MIR1293, MIR1291, MIR1302-1, MIR1178, MIR1251, SNORA70G, MIR1244-3, MIR4302, MIR4303, MIR4304, KLRF2, LINC00987, MIR3685, MIR3649, MIR3612, MIR3652, MIR3922, MIR548Z, MIR3913-2, MIR3657, MIR3913-1, MIR3908, LOC100505978, LOC100506125, LINC02470, GPRC5D-AS1, LINC02398, RASSF8-AS1, LINC01234, LOC100506551, LOC100506606, PXN-AS1, DDX11-AS1, NRAV, LOC100506691, GIHCG, LOC100506869, LRCOL1, LOC100507065, CLIP1-AS1, PITPNM2-AS1, LINC02408, LINC02384, LINC00943, LOC100507250, LOC100507377, LOC100507424, LINC02397, BLOC1S1-RDH5, POC1B-GALNT4, KLRC4-KLRK1, ZNF664-RFLNA, PRH1-PRR4, MIR4699, MIR4498, MIR4496, MIR4701, MIR3974, MIR4495, MIR4419B, MIR4472-2, MIR4700, MIR3198-2, MIR4497, MIR4494, MIR4698, CACNA1C-AS1, LOC100652999, MIR5188, MIR5700, LINC00507, RERG-AS1, CACNA1C-AS4, CACNA1C-AS2, DENND5B-AS1, HOXC-AS1, HOXC-AS2, HOXC-AS3, HOXC13-AS, CACNA1C-IT2, CACNA1C-IT3, IFNG-AS1, LINC02361, LOC100996671, LINC02369, OVCH1-AS1, LINC02446, ZNF891, LOC101593348, LINC02400, LINC02402, LOC101927267, LINC02395, LOC101927318, LOC101927415, LINC02359, LOC101927583, LINC02405, LINC02375, LINC02411, LINC02388, LINC02368, TMEM132D-AS2, LINC02421, LINC02449, LINC01479, LOC101928002, LOC101928030, LINC01481, LOC101928100, LINC02444, LINC01486, LINC02366, TESC-AS1, PLBD1-AS1, LINC01489, LOC101928416, LINC01490, LOC101928441, LINC02426, SOX5-AS1, LOC101928530, LOC101928597, LOC101928617, ARNTL2-AS1, LOC101928731, LOC101928937, LINC02387, LOC101929058, LINC02401, CASC18, LOC101929162, LOC101929384, TEX52, GAU1, LINC02443, LINC02417, LINC02555, LINC02367, PCBP2-OT1, CISTR, MIR6074, MIR6125, MIR6502, MIR6758, MIR6760, MIR6761, MIR6762, MIR6861, MIR7107, MIR7844, MIR6763, MIR6757, MIR6880, MIR7106, MIR6505, MIR6759, MIR8072, MIR7851, THRIL, LOC102723544, LINC01498, ATXN2-AS, LOC102724020, LOC102724050, LOC102724421, LINC02420, PPFIA2-AS1, LINC02412, MIR1244-4, LLPH-DT, CCND2-AS1, RXYLT1-AS1, LHX5-AS1, LINC00508, LOC105369187, LOC105369595, LINC02455, LOC105369632, MIR200CHG, LINC02378, LINC02468, LOC105369691, LINC02386, LINC02422, LOC105369728, LINC02406, LINC02471, LINC02451, LINC02450, LINC02461, LOC105369747, DDN-AS1, LOC105369781, LINC02403, LINC02448, LINC02454, LINC02425, LINC02442, LINC02373, LINC02445, LINC02394, LINC02407, LINC02464, LINC02424, PPP1R12A-AS1, LOC105369879, LINC02399, LINC02392, LINC02404, LINC02413, LOC105369911, LINC02410, LOC105369921, LINC02409, LOC105369945, LINC02385, KCCAT198, LOC105369971, LOC105369980, LINC02356, LINC02459, LINC02460, LINC02423, LINC02440, LINC02439, LOC105370024, LINC02350, LINC02376, LOC105370068, LINC02441, LINC02419, LINC02414, XLOC_009911, LRP1-AS, ADGRD1-AS1, LOC106007490, LOC106007491, LOC106096416, SNORD133, SNORA105C, PRH1-TAS2R14, LOC106783497, LOC106799839, LOC107105350, LINC02415, ORI6, LOC107436002, LOC107832852, LOC107832854, CACNA1C-IT1, LOC108178986, LOC108178987, LOC108228199, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108281184, LOC108720144, LOC108720145, LOC108942766, LOC109280163, LOC109280164, LOC109280165, LOC109286554, LOC109286556, LOC109461484, SNORA9B, SNORA113, SNORA120, KRT7-AS, LINC02231, POC1B-AS1, LOC110120854, LOC110120878, LOC110120899, LOC110120906, LOC110120907, LOC110120908, LOC110120918, LOC110120934, LOC110120948, LOC110120954, LOC110120955, LOC110120956, LOC110120957, LOC110121322, LOC110121323, LOC110121349, LOC110121363, LOC110121374, LOC110121381, LOC110121389, LOC110121401, LOC110121402, LOC110121403, LOC110121408, LOC110121425, LOC110121435, LOC110121456, LOC110121480, LOC110121489, LOC110599568, LINC02258, LINC02156, LOC111258525, LOC111258526, LOC111365152, LOC111365179, LOC111365214, LOC111413045, LOC111429608, LOC111429617, LOC111465008, LOC111501774, LOC111501779, LOC111556143, LOC111556155, LOC111776216, LOC112268105
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
94.
GRCh37:
Chr12:48258848
GRCh38:
Chr12:47865065
VDRnot providedUncertain significanceno assertion criteria provided
95.
GRCh37:
Chr12:48258869
GRCh38:
Chr12:47865086
VDRnot providedUncertain significanceno assertion criteria provided
96.
GRCh37:
Chr12:48238777
GRCh38:
Chr12:47844994
VDRVitamin D-dependent rickets, type 2Pathogenic
(Jan 1, 2008)
no assertion criteria provided
97.
VDRVitamin D-dependent rickets, type 2Pathogenic
(Sep 1, 2001)
no assertion criteria provided
98.
GRCh37:
Chr12:48272809
GRCh38:
Chr12:47879026
VDRVitamin D-dependent rickets, type 2Pathogenic
(Feb 1, 1998)
no assertion criteria provided
99.
GRCh37:
Chr12:48238642
GRCh38:
Chr12:47844859
VDRVitamin D-dependent rickets, type 2Pathogenic
(Dec 1, 1996)
no assertion criteria provided
100.
GRCh37:
Chr12:48240201
GRCh38:
Chr12:47846418
VDRVitamin D-dependent rickets, type 2Pathogenic
(Dec 1, 1996)
no assertion criteria provided
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