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Results: 7

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
SP7Malignant melanomanot providednot classified by submitter1253329171
2.
SP7not providednot provided
(Feb 21, 2011)
not classified by submitter1253328390
3.
SP7Osteogenesis imperfecta type 11Pathogenic
(Feb 12, 2015)
classified by single submitter
4.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1253099658 - 53724525
5.
See casesLikely pathogenic
(Mar 9, 2012)
classified by single submitter1252851850 - 53558824
6.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1253224024 - 54222450
7.
A2M, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5B, ATP5G2, 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, GNAI2P1, 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, TMEM5, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, KLRAP1, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1L1, 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, TMEM194A, CUX2, , TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, METTL21B, 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, CCDC53, 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, , APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, ASUN, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, DAD1P1, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, C12orf5, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, , EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, FAM60A, 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, WIBG, 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, XRCC6BP1, PCED1B, C12orf65, TMEM132C, CCDC64, HELB, MARCH9, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, ARHGEF25, C12orf56, IQCD, LINC01257, AGAP2, DCD, RAB3IP, LOH12CR1, 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, OVOS2, BCDIN3D, ALG10B, GLIPR1L2, FAM101A, ZNF664, LINC00477, LYRM5, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, SOCS2-AS1, CEP83-AS1, KRT80, CFAP54, A2ML1, A2M-AS1, C12orf66, C12orf60, FBXL14, RAD9B, FAM109A, 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, METTL20, LRRC43, OR6C74, OR6C3, TCP11L2, LINC00935, TBX5-AS1, C12orf79, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, C1RL-AS1, CD163L1, LOC283332, LOC283335, ZNF740, RASSF3, LOC283352, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, TRHDE-AS1, C12orf80, LINC00592, DPY19L2, CLEC9A, LINC01559, GAS2L3, LINC00485, LOC283440, MYO1H, HECTD4, KSR2, GATC, HNF1A-AS1, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, LINC00936, C1QL4, TMEM119, KRT79, LOC338797, LINC01089, C12orf74, FAM19A2, LINC01252, SLCO1B7, PABPC1P4, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, CCDC42B, TMEM233, SETD8, LINC00944, LINC00937, OR6C1, OR6C75, OR6C76, OR6C70, LINC00938, LOC400043, FLJ41278, C12orf76, LINC00939, FLJ37505, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR135A2, MIR141, MIR196A2, MIR200C, MIR26A2, OVOS, LOC414300, LINC00615, IQSEC3, ZNF705A, FAM66C, DDX12P, SMCO3, H3F3C, DBX2, FLJ12825, PLEKHG7, LOC440117, FZD10-AS1, TSPAN11, OR9K2, MIR148B, MIR331, EID3, LOH12CR2, ATXN7L3B, CLLU1OS, CLLU1, MIR492, LOC574538, HIGD1C, LOC642846, MAP1LC3B2, LOC643339, LOC643770, PRB2, LRTM2, SCARNA12, SCARNA11, SNORA2A, SNORA2B, SNORA34, SNORA49, SNORA53, CD27-AS1, SNORD59B, SCARNA10, MIR548C, MIR613, MIR614, MIR615, MIR616, MIR617, MIR618, MIR619, MIR620, LOC728084, C12orf73, SKP1P2, LOC728715, C12orf71, SLC15A5, TRF-GAA1-2, LOC100049716, HOTAIR, MIR920, KRT73-AS1, TMPO-AS1, LOC100129223, SMIM10L1, MUC8, LOC100129940, LOC100130238, AGAP2-AS1, LINC01405, USP30-AS1, RNU7-1, TRS-CGA4-1, TRW-CCA4-1, TRD-GTC1-1, TRA-TGC3-1, TRD-GTC2-6, TRA-TGC4-1, TRD-GTC2-7, TRD-GTC2-8, LOC100190940, PCED1B-AS1, LOC100240734, LOC100240735, LINC00940, BCDIN3D-AS1, MANSC4, LINC00941, LINC00173, LOC100287944, LOC100288798, ZNF605, LINC00942, MIR1252, MIR1279, MIR1228, MIR1827, MIR1293, MIR1291, MIR1302-1, MIR1178, MIR1244-1, MIR1251, SNORA70G, MIR1244-3, MIR1244-2, MIR4302, MIR4303, MIR4304, KLRF2, LINC00987, MIR3685, MIR3649, MIR3612, MIR3652, MIR3922, MIR548Z, MIR3913-2, MIR3657, MIR3913-1, MIR3908, LOC100505978, LOC100506125, LOC100506159, LOC100506314, LOC100506393, RASSF8-AS1, LINC01234, LOC100506551, LOC100506606, PXN-AS1, DDX11-AS1, NRAV, LOC100506844, LOC100506869, LRCOL1, LOC100507065, CLIP1-AS1, LOC100507091, LOC100507175, LOC100507195, LINC00943, LOC100507250, LOC100507377, LOC100507424, BLOC1S1-RDH5, POC1B-GALNT4, KLRC4-KLRK1, ZNF664-FAM101A, PRH1-PRR4, MIR4699, MIR4498, MIR4496, MIR4701, MIR3974, MIR4495, MIR4419B, MIR4472-2, MIR4700, MIR3198-2, MIR4497, MIR4494, MIR4698, CACNA1C-AS1, LOC100652999, MIR5188, MIR5700, LINC00507, RNU6-36P, RERG-AS1, CACNA1C-AS4, CACNA1C-AS2, DENND5B-AS1, HOXC-AS1, HOXC-AS2, HOXC-AS3, HOXC13-AS, CACNA1C-IT2, CACNA1C-IT3, IFNG-AS1, LOC100996671, LOC100996679, OVCH1-AS1, ZNF891, LOC101593348, LOC101927058, LOC101927267, LOC101927292, LOC101927318, LOC101927415, LOC101927464, LOC101927583, LOC101927592, LOC101927616, LOC101927637, LOC101927653, LOC101927694, LOC101927735, LOC101927901, LOC101927905, LINC01479, LOC101928002, LOC101928030, LINC01481, LOC101928100, LOC101928137, LINC01486, LOC101928162, TESC-AS1, PLBD1-AS1, LINC01489, LOC101928416, LINC01490, LOC101928441, LOC101928449, LOC101928471, LOC101928530, LOC101928597, ARNTL2-AS1, LOC101928731, LOC101928937, LOC101929058, LOC101929084, CASC18, LOC101929162, LOC101929384, LOC101929549, LOC101929584, LOC101930452, PCBP2-OT1, CISTR, MIR6074, MIR6125, MIR6502, MIR6758, MIR6760, MIR6761, MIR6762, MIR6861, MIR7107, MIR7844, MIR6763, MIR6757, MIR6880, MIR7106, MIR6505, MIR6759, MIR8072, MIR7851, THRIL, LOC102723544, LINC01498, LOC102724020, LOC102724050, LOC102724421, LOC102724663, LOC102724933, MIR1244-4, LLPH-AS1, CCND2-AS1, TMEM5-AS1, LHX5-AS1, LINC00508
See casesPathogenic
(Sep 21, 2012)
classified by single submitter12121271 - 133196807

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