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Items: 31

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:35172122
GRCh38:
Chr11:35150575
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
2.
GRCh37:
Chr11:35175045
GRCh38:
Chr11:35153498
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
3.
GRCh37:
Chr11:35179651
GRCh38:
Chr11:35158104
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
4.
GRCh37:
Chr11:35184552
GRCh38:
Chr11:35163005
CD44, SNORD164Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
5.
GRCh37:
Chr11:35188191
GRCh38:
Chr11:35166644
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
6.
GRCh37:
Chr11:35191445
GRCh38:
Chr11:35169898
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
7.
GRCh37:
Chr11:35192214
GRCh38:
Chr11:35170667
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
8.
GRCh37:
Chr11:35192279
GRCh38:
Chr11:35170732
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
9.
GRCh37:
Chr11:35192629
GRCh38:
Chr11:35171082
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
10.
GRCh37:
Chr11:35198190
GRCh38:
Chr11:35176643
CD44INDIAN BLOOD GROUP SYSTEM POLYMORPHISMBenign
(Jan 15, 1994)
no assertion criteria provided
11.
GRCh37:
Chr11:35200916
GRCh38:
Chr11:35179369
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
12.
GRCh37:
Chr11:35221862
GRCh38:
Chr11:35200315
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
13.
GRCh37:
Chr11:35244058
GRCh38:
Chr11:35222511
CD44Calcium oxalate urolithiasisassociation
(Mar 1, 2014)
no assertion criteria provided
14.
GRCh37:
Chr11:35126357-38814431
See casesUncertain significance
(Apr 22, 2014)
no assertion criteria provided
15.
GRCh37:
Chr11:230616-134938470
ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, GIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, RARRES3, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, SSSCA1, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLA2G16, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, HRASLS2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, HRASLS5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, DDIAS, CCDC83, LTO1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LOC646522, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LOC729305, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
16.
GRCh37:
Chr11:230616-134938470
ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, GIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, RARRES3, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, SSSCA1, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLA2G16, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, HRASLS2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, HRASLS5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, DDIAS, CCDC83, LTO1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LOC646522, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LOC729305, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
17.
GRCh37:
Chr11:25771208-35614978
See casesPathogenic
(Apr 22, 2014)
no assertion criteria provided
18.
GRCh37:
Chr11:230615-37698540
ADM, AP2A2, AMPD3, APBB1, RHOG, ARNTL, ART1, ASCL2, BDNF, MPPED2, CALCA, CALCB, CARS, CAT, CCKBR, CD44, CD59, CD81, CD151, CDKN1C, TPP1, CNGA4, COPB1, CSTF3, CTSD, DRD4, DUSP8, EIF4G2, ELF5, FANCF, FSHB, GAS2, GTF2H1, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNA4, KCNC1, KCNJ11, KCNQ1, LDHA, LDHC, LMO1, LMO2, LSP1, CAPRIN1, MUC2, MUC5AC, MUC6, MYOD1, NAP1L4, NELL1, NUCB2, NUP98, SLC22A18, SLC22A18AS, PAX6, PDE3B, PIK3C2A, POLR2L, PSMA1, PSMD13, PTH, RAG1, RAG2, RCN1, RNH1, MRPL23, RPL27A, RPLP2, RPS13, RRM1, SAA1, SAA2, SAA4, SCT, SLC1A2, SMPD1, TRIM21, ST5, STIM1, ABCC8, TAF10, TALDO1, TEAD1, TH, TSPAN4, TNNI2, TNNT3, TPH1, TRAF6, TSG101, PHLDA2, TUB, WEE1, WT1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, BBOX1, PPFIBP2, IFITM1, OR6A2, DCHS1, EIF3F, BRSK2, SLC6A5, MICAL2, CTR9, TRIM66, TSPAN32, TSSC4, USH1C, HIPK3, PRMT3, MRVI1, TRIM22, IFITM3, SPON1, EIF3M, DEAF1, IPO7, HTATIP2, IFITM2, TRIM3, LYVE1, C11orf58, KCNQ1OT1, PKP3, HPS5, RRAS2, SWAP70, DENND5A, RRP8, SIRT3, OR52A1, ARFIP2, FJX1, KIAA1549L, ABTB2, PAMR1, FBXO3, SERGEF, EHF, OR10A3, TIMM10B, ELP4, DKK3, RBMXL2, PGAP2, COMMD9, C11orf21, TRPM5, UBQLN3, RNF141, APIP, IGF2-AS, CEND1, WT1-AS, CYB5R2, TRIM34, CDHR5, TOLLIP, ZDHHC13, TRIM44, USP47, TRIM68, NAT10, UEVLD, LIN7C, TCP11L1, LGR4, PIDD1, KCNQ1DN, SOX6, PARVA, MMP26, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, CHRNA10, SLC17A6, PNPLA2, PHRF1, SCUBE2, ZBED5, SIGIRR, MRPL17, ANO3, EPS8L2, STK33, CHID1, PRRG4, OR51G1, OR51B4, OR51B2, OR52N1, RIC3, E2F8, SLC25A22, QSER1, PRR5L, PGGHG, OR51G2, OR51E2, PTDSS2, MOB2, SBF2, KIF18A, FAM160A2, FAR1, BTBD10, PTPN5, MICALCL, TRIM5, NAV2, SYT8, CCDC34, DEPDC7, CAVIN3, SAAL1, OSBPL5, LRRC56, MRGPRE, ART5, MRGPRX2, MRGPRX3, MRGPRX4, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR52M1, OR52K2, OR5P2, OR5P3, CYP2R1, DBX1, DNAJC24, ARL14EP, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, UBQLNL, MUC15, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, SLC5A12, LDHAL6A, C11orf42, NLRP6, METTL15, IMMP1L, OR56B4, ANO5, OR52B2, LMNTD2, OR51F1, SVIP, MRGPRX1, OR51B5, CSNK2A3, OR51V1, H19, CRACR2B, TMEM80, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, OR10A2, OVCH2, GATD1, GALNT18, NCR3LG1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, IFITM5, OR56B1, INSC, FIBIN, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, CCDC73, BDNF-AS, RASSF10, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, C11orf91, MTRNR2L8, CCDC179, MIR210HG, SAA2-SAA4
See casesPathogenic
(Jun 23, 2014)
no assertion criteria provided
19.
GRCh37:
Chr11:27588560-41770792
See casesUncertain significance
(Dec 14, 2014)
no assertion criteria provided
20.
GRCh37:
Chr11:29238811-45494063
See casesPathogenicno assertion criteria provided
21.
GRCh37:
Chr11:26574629-50508019
See casesPathogenicno assertion criteria provided
22.
GRCh37:
Chr11:34189942-36857171
See casesUncertain significanceno assertion criteria provided
23.
GRCh37:
Chr11:32782607-36404823
See casesUncertain significanceno assertion criteria provided
24.
GRCh37:
Chr11:31210842-35436121
See casesPathogenicno assertion criteria provided
25.
GRCh37:
Chr11:30615127-40606139
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr11:34190478-36842348
GRCh38:
Chr11:34168931-36820798
See casesUncertain significance
(Aug 20, 2012)
no assertion criteria provided
27.
GRCh37:
Chr11:26390509-35274523
GRCh38:
Chr11:26368962-35252976
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
28.
GRCh37:
Chr11:34183241-36820677
GRCh38:
Chr11:34161694-36799127
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr11:35124765-38813042
GRCh38:
Chr11:35103218-38791492
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
30.
GRCh37:
Chr11:22571661-38220709
GRCh38:
Chr11:22550115-38199159
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
31.
GRCh37:
Chr11:35157027-37670718
GRCh38:
Chr11:35135480-37649168
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
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