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Results: 16

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:73879477-93189581
GRCh38:
Chr12:73485697-92795805
See casesPathogenic
(Feb 25, 2013)
no assertion criteria provided
2.
GRCh37:
Chr12:76960653-82414868
GRCh38:
Chr12:76566873-82021089
See casesLikely pathogenic
(Jan 21, 2013)
no assertion criteria provided
3.
GRCh37:
Chr12:230437-133773393
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, 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, NEMP1, 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, TIGAR, 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, THCAT155, 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, KCCAT198, CRAT8
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
4.
GRCh37:
Chr12:82076205
GRCh38:
Chr12:81682426
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
5.
GRCh37:
Chr12:82064592
GRCh38:
Chr12:81670813
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
6.
GRCh37:
Chr12:81972304
GRCh38:
Chr12:81578525
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
7.
GRCh37:
Chr12:81939630
GRCh38:
Chr12:81545851
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
8.
GRCh37:
Chr12:81937023
GRCh38:
Chr12:81543244
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
9.
GRCh37:
Chr12:81882500
GRCh38:
Chr12:81488721
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
10.
GRCh37:
Chr12:81829702
GRCh38:
Chr12:81435923
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
11.
GRCh37:
Chr12:81821041
GRCh38:
Chr12:81427262
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
12.
GRCh37:
Chr12:81803041
GRCh38:
Chr12:81409262
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
13.
GRCh37:
Chr12:81668640
GRCh38:
Chr12:81274861
PPFIA2Lung cancerUncertain significanceno assertion criteria provided
14.
GRCh37:
Chr12:77958537-85764600
GRCh38:
Chr12:77564757-85370822
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
15.
GRCh37:
Chr12:80660385-85647333
GRCh38:
Chr12:80266605-85253555
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided
16.
GRCh37:
Chr12:70731264-82154924
GRCh38:
Chr12:70337484-81761145
See casesPathogenic
(Aug 12, 2011)
no assertion criteria provided

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