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Items: 5

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:76159960-76718626
CRHBP, PDE8B, AGGF1, ZBED3, S100Znot providedUncertain significance
(Aug 29, 2017)
no assertion criteria provided
2.
GRCh37:
Chr5:17628741-176575720
ADRA1B, ADRB2, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, C6, C7, C9, CAMK4, CAMK2A, CAMLG, CAST, CCNB1, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, DAB2, DMXL1, DHFR, DIAPH1, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, F2RL1, F2RL2, FABP6, FAT2, FBN2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, FYB1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GDNF, GFRA3, GHR, GLRA1, GLRX, GM2A, GPX3, GRIA1, NR3C1, GTF2H2, GZMA, GZMK, HARS, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR1A, HTR4, IK, IL3, IL4, IL5, IL6ST, IL7R, IL9, IL12B, IL13, IRF1, ISL1, ITGA1, ITGA2, ITK, KCNMB1, KCNN2, KIF2A, TNPO1, LCP2, LECT2, LIFR, LMNB1, LNPEP, LOX, CD180, SMAD5, MAN2A1, MAP1B, MCC, MEF2C, MAP3K1, MFAP3, MOCS2, MSH3, MSX2, NAIP, NDUFA2, NDUFS4, NEUROG1, NPM1, NPR3, OXCT1, PAM, PCDH1, PCDHGC3, PCSK1, PDE4D, PDE6A, PDGFRB, PFDN1, PGGT1B, PIK3R1, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PRKAA1, PRLR, PTGER4, RAD1, PURA, RAD17, RARS, RASA1, RASGRF2, RPL37, RPS14, RPS23, SELENOP, SGCD, SKP1, SKP2, SLC1A3, SLC6A7, SLC12A2, SLC22A4, SLC22A5, SLIT3, SMN1, SMN2, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRP19, STK10, TAF7, TAF9, TARS, TBCA, TCF7, TCOF1, NR2F1, TGFBI, THBS4, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, XRCC4, ZNF131, ST8SIA4, REEP5, SERF1A, NME5, ENC1, AP3B1, PDLIM4, PLPP1, STC2, PDE8B, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, P4HA2, HSPB3, ATP6V0E1, ATG12, OSMR, PTTG1, NREP, CNOT8, HAND1, MED7, HOMER1, MYOT, SCAMP1, NRG2, CXCL14, H2AFY, RNF14, CARTPT, SNCAIP, NUP155, TTC37, CLINT1, PCDHGA8, PCDHA9, ZFYVE16, MATR3, DELE1, JAKMIP2, PJA2, DDX46, SLC23A1, GNPDA1, SRA1, EDIL3, COL4A3BP, RAD50, KIF20A, G3BP1, LHFPL2, CWC27, APBB3, CCNO, TNIP1, NSA2, FST, SLU7, PAIP1, POLR3G, PLK2, IQGAP2, SEC24A, CPLX2, FAXDC2, FAM114A2, MRPS30, BRD8, TCERG1, SUB1, HNRNPA0, SPINK5, SOX30, ESM1, KIF3A, ADAMTS6, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, SV2C, HMGXB3, PDZD2, ARHGAP26, FSTL4, MRPS27, ATP10B, SEPT8, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, PPWD1, HARS2, OTP, MTREX, NNT, TTC33, ZNF346, AMACR, SSBP2, BHMT2, TNFAIP8, NIPBL, PART1, GEMIN5, PCDHGA12, LRRTM2, FAM169A, RAI14, CCDC69, PCDHB5, KLHL3, TSPAN17, FBXO4, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, IL17B, DIMT1, MAT2B, SLC27A6, SNX24, MRPL22, DROSHA, PCDHB1, DMGDH, TLX3, KCNIP1, TMED7, ISOC1, RPL26L1, SAR1B, SLC45A2, DCTN4, IPO11, MZB1, PAIP2, CDKL3, RXFP3, PCDH12, GCNT4, FAM13B, FAM53C, REEP2, PRR16, COMMD10, POLK, NOP16, LARS, CXXC5, ZFR, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, PELO, RBM27, NEURL1B, DHX29, DDX4, MTMR12, SGTB, ARL15, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, SPDL1, THG1L, WDR70, AGGF1, WDR41, BRIX1, C5orf22, TMCO6, TRIM36, GALNT10, RBM22, RIOK2, DEPDC1B, BDP1, ERBIN, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHB@, PCDHA@, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, CCL28, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, PRDM9, CDC42SE2, TRPC7, KIAA1191, ERGIC1, TENM2, NLN, ZNF608, KCTD16, SEMA6A, ARRDC3, ZSWIM6, PCDHB16, ANKRA2, HMHB1, ZBED8, GOLPH3, MCCC2, EPB41L4A, CENPK, ERAP2, ARHGEF28, NSD1, SIL1, ARAP3, TMEM267, FBXL17, YTHDC2, RANBP17, AGXT2, SLC30A5, CENPH, GPBP1, CPLANE1, GRAMD2B, PCYOX1L, CCNJL, SH3TC2, PANK3, PARP8, SAP30L, ANKRD55, TXNDC15, MCTP1, PTCD2, SPEF2, ELOVL7, TRAPPC13, CPEB4, NDFIP1, FBXO38, YIPF5, TIGD6, ADAMTS12, SPRY4, NUDT12, SLC4A9, ATG10, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, UTP15, ZCCHC9, PSD2, SLF1, THOC3, ZBED3, GFM2, CYSTM1, MEGF10, SPINK7, SPZ1, CARD6, HAVCR2, SMIM3, TSLP, FCHSD1, UNC5A, C5orf30, LYRM7, SLC25A46, BOD1, CDKN2AIPNL, TIMD4, NDUFAF2, ZNF300, MYOZ3, UBTD2, LMBRD2, MRPS36, ATP6AP1L, PRDM6, FTMT, SFXN1, FNIP1, SNX18, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, C1QTNF3, MARCH3, FCHO2, RAB3C, LYSMD3, LEAP2, SCGB3A2, SETD9, IL31RA, EMB, SLCO6A1, C5orf47, PPARGC1B, MROH2B, EGFLAM, PRRC1, NADK2, UGT3A1, CAPSL, JMY, C5orf58, ZNF474, POU5F2, DNAJC21, AFAP1L1, GRPEL2, TMEM171, TMEM174, LSM11, POC5, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, ACOT12, SOWAHA, SHROOM1, C5orf24, SREK1, DCANP1, SLC38A9, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, TMEM167A, MBLAC2, TMEM161B, SRFBP1, ZMAT2, MARVELD2, ARSK, FAM81B, TTC23L, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, MIER3, CDC20B, UGT3A2, TENT2, DCP2, LIX1, ZNF366, FAM151B, S100Z, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, RANBP3L, CCDC125, GAPT, CMYA5, STK32A, LVRN, SLC36A1, RICTOR, EIF4E1B, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, C5orf64, RNF180, SREK1IP1, RGMB, RFESD, CHSY3, TMEM173, FAM170A, ARSI, ANKRD34B, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CATSPER3, NIPAL4, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, C5orf17, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ARL14EPL, SMIM23, CCNI2, SCARNA18, SNORA74B, MIR449B, SNHG4, GTF2H2C, SERF1B, ANKDD1B, VTRNA2-1, MINAR2, LOC100128059, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1
See casesPathogenic
(Feb 1, 2016)
no assertion criteria provided
3.
GRCh37:
Chr5:113577-180719789
ADCY2, ADRA1B, ADRB2, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, C6, C7, C9, CAMK4, CAMK2A, CAMLG, CANX, CAST, CCNB1, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, DIAPH1, DNAH5, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, F2RL1, F2RL2, F12, FABP6, FAT2, FBN2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, FLT4, FYB1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GDNF, GFRA3, GHR, GLRA1, GLRX, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, GTF2H2, GZMA, GZMK, HARS, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR1A, HTR4, IK, IL3, IL4, IL5, IL6ST, IL7R, IL9, IL12B, IL13, IRF1, ISL1, ITGA1, ITGA2, ITK, KCNMB1, KCNN2, KIF2A, TNPO1, LCP2, LECT2, LIFR, LMNB1, LNPEP, LOX, LTC4S, CD180, SMAD5, MAN2A1, MAP1B, MCC, MEF2C, MAP3K1, MFAP3, MGAT1, MOCS2, MSH3, MSX2, MTRR, MYO10, NAIP, NDUFA2, NDUFS4, NDUFS6, NEUROG1, NPM1, NPR3, OXCT1, PAM, PCDH1, PCDHGC3, PCSK1, PDE4D, PDE6A, PDGFRB, PFDN1, PGGT1B, PIK3R1, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PRKAA1, MAPK9, PRLR, PROP1, PTGER4, RAD1, PURA, RAD17, RARS, RASA1, RASGRF2, RPL37, RPS14, RPS23, SDHA, SELENOP, SGCD, SKP1, SKP2, SLC1A3, SLC6A3, SLC6A7, SLC9A3, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SMN1, SMN2, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRD5A1, SRP19, STK10, TAF7, TAF9, TARS, TBCA, TCF7, ZNF354A, TCOF1, TERT, NR2F1, TGFBI, THBS4, TRIO, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, XRCC4, ZNF131, ST8SIA4, REEP5, SERF1A, NME5, ENC1, AP3B1, PDLIM4, PLPP1, STC2, PDE8B, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, SQSTM1, P4HA2, HSPB3, ATP6V0E1, SEMA5A, ATG12, OSMR, PTTG1, PDLIM7, NREP, TRIP13, CNOT8, HAND1, MED7, HOMER1, MYOT, ADAMTS2, SCAMP1, NRG2, CXCL14, H2AFY, RNF14, CARTPT, SNCAIP, NUP155, TTC37, CLINT1, PCDHGA8, PCDHA9, ZFYVE16, MATR3, MAML1, DELE1, JAKMIP2, PJA2, DDX46, GFPT2, SLC23A1, GNPDA1, SRA1, PDCD6, EDIL3, COL4A3BP, RAD50, KIF20A, G3BP1, LHFPL2, CWC27, MARCH6, APBB3, CCNO, TNIP1, RACK1, BASP1, NSA2, FST, SLU7, PAIP1, POLR3G, RGS14, SLC12A7, PLK2, IQGAP2, SEC24A, CPLX2, FAXDC2, FAM114A2, MRPS30, BRD8, TCERG1, BTNL3, SUB1, HNRNPA0, LMAN2, SPINK5, TENT4A, SOX30, TPPP, ESM1, KIF3A, ADAMTS6, MGAT4B, B4GALT7, EXOC3, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, CCT5, SV2C, HMGXB3, PDZD2, TBC1D9B, ARHGAP26, FSTL4, MRPS27, ATP10B, N4BP3, SEPT8, FBXL7, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, ICE1, PPWD1, HARS2, OTP, MTREX, NNT, TTC33, ZNF346, AMACR, SSBP2, BHMT2, TNFAIP8, NIPBL, PART1, GEMIN5, PCDHGA12, LRRTM2, FAM169A, RAI14, CCDC69, PCDHB5, KLHL3, TSPAN17, FBXO4, OR2V1, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, DIMT1, MAT2B, SLC27A6, SNX24, MRPL22, DROSHA, PCDHB1, DMGDH, TLX3, KCNIP1, ZNF354C, IRX4, TAS2R1, TMED7, ISOC1, RPL26L1, SAR1B, MRNIP, SLC45A2, DCTN4, IPO11, MZB1, PAIP2, CDKL3, RXFP3, PCDH12, GCNT4, FAM13B, FAM53C, REEP2, PRR16, COMMD10, POLK, DDX41, NOP16, LARS, CXXC5, ZFR, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, RAB24, PELO, RBM27, RETREG1, OTULINL, NEURL1B, DHX29, DDX4, FAM193B, MTMR12, SGTB, ARL15, TMED9, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, NSUN2, SPDL1, THG1L, WDR70, AGGF1, WDR41, BRIX1, C5orf22, TMCO6, TRIM36, GALNT10, NHP2, RBM22, CEP72, RIOK2, DEPDC1B, BDP1, RNF130, ERBIN, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHB@, PCDHA@, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, ANKH, CCL28, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, PRDM9, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, NLN, AHRR, ZNF608, KCTD16, SEMA6A, ARRDC3, ZSWIM6, PCDHB16, ANKRA2, HMHB1, ZBED8, GOLPH3, MCCC2, EPB41L4A, CENPK, ERAP2, ARHGEF28, NSD1, SIL1, ARAP3, TMEM267, RMND5B, FBXL17, YTHDC2, RANBP17, AGXT2, SLC30A5, CENPH, MRPL36, GPBP1, CPLANE1, BRD9, GRAMD2B, PCYOX1L, FASTKD3, IRX1, CCNJL, SH3TC2, PANK3, PARP8, SAP30L, ANKRD55, TXNDC15, MCTP1, PTCD2, ZDHHC11, LPCAT1, BTNL8, SPEF2, DOK3, ELOVL7, TRAPPC13, ZFP2, RUFY1, CPEB4, PRR7, NDFIP1, CLPTM1L, FBXO38, YIPF5, TRIM7, TIGD6, ADAMTS12, SPRY4, MXD3, NUDT12, SLC4A9, ATG10, ROPN1L, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, UTP15, ZCCHC9, MED10, PSD2, SLF1, THOC3, ZBED3, GFM2, CYSTM1, MEGF10, SPINK7, SPZ1, CARD6, TRIM52, HAVCR2, PHYKPL, SMIM3, NKD2, TSLP, FCHSD1, UNC5A, OTULIN, C5orf30, ZNF622, LYRM7, TRIM41, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, NDUFAF2, ZNF300, MYOZ3, UBTD2, LMBRD2, MRPS36, ATP6AP1L, SCGB3A1, PRDM6, FTMT, SFXN1, FNIP1, SNX18, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, C1QTNF3, MARCH3, FCHO2, RAB3C, LYSMD3, EXOC3-AS1, LEAP2, SCGB3A2, ZNF354B, SETD9, IL31RA, EMB, SLCO6A1, C5orf47, PPARGC1B, MROH2B, EGFLAM, PRRC1, NADK2, UGT3A1, CAPSL, JMY, C5orf58, ZNF474, CCDC127, OR2Y1, UBE2QL1, C5orf49, FAM173B, CMBL, POU5F2, DNAJC21, AFAP1L1, GRPEL2, TMEM171, TMEM174, LSM11, POC5, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, ACOT12, SOWAHA, SHROOM1, C5orf24, SREK1, DCANP1, SLC38A9, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, TMEM167A, MBLAC2, TMEM161B, SRFBP1, PLEKHG4B, ZMAT2, MARVELD2, C5orf38, IRX2, BTNL9, ARSK, FAM81B, TTC23L, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, MIER3, CDC20B, UGT3A2, TENT2, DCP2, LIX1, ZNF366, FAM151B, S100Z, ADAMTS16, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, RANBP3L, CCDC125, GAPT, CMYA5, STK32A, LVRN, SLC36A1, RICTOR, EIF4E1B, RASGEF1C, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, FAM153A, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, OR2V2, C5orf64, RNF180, SREK1IP1, ZNF454, C5orf60, RGMB, RFESD, CHSY3, SLC6A19, TMEM173, FAM170A, ARSI, ANKRD34B, PFN3, ZNF879, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, C5orf17, MARCH11, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, ANKRD33B, ZDHHC11B, SCARNA18, SNORA74B, MIR449B, SNHG4, GTF2H2C, SERF1B, ANKDD1B, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
4.
GRCh37:
Chr5:113577-180719789
ADCY2, ADRA1B, ADRB2, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, C6, C7, C9, CAMK4, CAMK2A, CAMLG, CANX, CAST, CCNB1, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, DIAPH1, DNAH5, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, F2RL1, F2RL2, F12, FABP6, FAT2, FBN2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, FLT4, FYB1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GDNF, GFRA3, GHR, GLRA1, GLRX, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, GTF2H2, GZMA, GZMK, HARS, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR1A, HTR4, IK, IL3, IL4, IL5, IL6ST, IL7R, IL9, IL12B, IL13, IRF1, ISL1, ITGA1, ITGA2, ITK, KCNMB1, KCNN2, KIF2A, TNPO1, LCP2, LECT2, LIFR, LMNB1, LNPEP, LOX, LTC4S, CD180, SMAD5, MAN2A1, MAP1B, MCC, MEF2C, MAP3K1, MFAP3, MGAT1, MOCS2, MSH3, MSX2, MTRR, MYO10, NAIP, NDUFA2, NDUFS4, NDUFS6, NEUROG1, NPM1, NPR3, OXCT1, PAM, PCDH1, PCDHGC3, PCSK1, PDE4D, PDE6A, PDGFRB, PFDN1, PGGT1B, PIK3R1, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PRKAA1, MAPK9, PRLR, PROP1, PTGER4, RAD1, PURA, RAD17, RARS, RASA1, RASGRF2, RPL37, RPS14, RPS23, SDHA, SELENOP, SGCD, SKP1, SKP2, SLC1A3, SLC6A3, SLC6A7, SLC9A3, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SMN1, SMN2, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRD5A1, SRP19, STK10, TAF7, TAF9, TARS, TBCA, TCF7, ZNF354A, TCOF1, TERT, NR2F1, TGFBI, THBS4, TRIO, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, XRCC4, ZNF131, ST8SIA4, REEP5, SERF1A, NME5, ENC1, AP3B1, PDLIM4, PLPP1, STC2, PDE8B, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, SQSTM1, P4HA2, HSPB3, ATP6V0E1, SEMA5A, ATG12, OSMR, PTTG1, PDLIM7, NREP, TRIP13, CNOT8, HAND1, MED7, HOMER1, MYOT, ADAMTS2, SCAMP1, NRG2, CXCL14, H2AFY, RNF14, CARTPT, SNCAIP, NUP155, TTC37, CLINT1, PCDHGA8, PCDHA9, ZFYVE16, MATR3, MAML1, DELE1, JAKMIP2, PJA2, DDX46, GFPT2, SLC23A1, GNPDA1, SRA1, PDCD6, EDIL3, COL4A3BP, RAD50, KIF20A, G3BP1, LHFPL2, CWC27, MARCH6, APBB3, CCNO, TNIP1, RACK1, BASP1, NSA2, FST, SLU7, PAIP1, POLR3G, RGS14, SLC12A7, PLK2, IQGAP2, SEC24A, CPLX2, FAXDC2, FAM114A2, MRPS30, BRD8, TCERG1, BTNL3, SUB1, HNRNPA0, LMAN2, SPINK5, TENT4A, SOX30, TPPP, ESM1, KIF3A, ADAMTS6, MGAT4B, B4GALT7, EXOC3, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, CCT5, SV2C, HMGXB3, PDZD2, TBC1D9B, ARHGAP26, FSTL4, MRPS27, ATP10B, N4BP3, SEPT8, FBXL7, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, ICE1, PPWD1, HARS2, OTP, MTREX, NNT, TTC33, ZNF346, AMACR, SSBP2, BHMT2, TNFAIP8, NIPBL, PART1, GEMIN5, PCDHGA12, LRRTM2, FAM169A, RAI14, CCDC69, PCDHB5, KLHL3, TSPAN17, FBXO4, OR2V1, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, DIMT1, MAT2B, SLC27A6, SNX24, MRPL22, DROSHA, PCDHB1, DMGDH, TLX3, KCNIP1, ZNF354C, IRX4, TAS2R1, TMED7, ISOC1, RPL26L1, SAR1B, MRNIP, SLC45A2, DCTN4, IPO11, MZB1, PAIP2, CDKL3, RXFP3, PCDH12, GCNT4, FAM13B, FAM53C, REEP2, PRR16, COMMD10, POLK, DDX41, NOP16, LARS, CXXC5, ZFR, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, RAB24, PELO, RBM27, RETREG1, OTULINL, NEURL1B, DHX29, DDX4, FAM193B, MTMR12, SGTB, ARL15, TMED9, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, NSUN2, SPDL1, THG1L, WDR70, AGGF1, WDR41, BRIX1, C5orf22, TMCO6, TRIM36, GALNT10, NHP2, RBM22, CEP72, RIOK2, DEPDC1B, BDP1, RNF130, ERBIN, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHB@, PCDHA@, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, ANKH, CCL28, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, PRDM9, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, NLN, AHRR, ZNF608, KCTD16, SEMA6A, ARRDC3, ZSWIM6, PCDHB16, ANKRA2, HMHB1, ZBED8, GOLPH3, MCCC2, EPB41L4A, CENPK, ERAP2, ARHGEF28, NSD1, SIL1, ARAP3, TMEM267, RMND5B, FBXL17, YTHDC2, RANBP17, AGXT2, SLC30A5, CENPH, MRPL36, GPBP1, CPLANE1, BRD9, GRAMD2B, PCYOX1L, FASTKD3, IRX1, CCNJL, SH3TC2, PANK3, PARP8, SAP30L, ANKRD55, TXNDC15, MCTP1, PTCD2, ZDHHC11, LPCAT1, BTNL8, SPEF2, DOK3, ELOVL7, TRAPPC13, ZFP2, RUFY1, CPEB4, PRR7, NDFIP1, CLPTM1L, FBXO38, YIPF5, TRIM7, TIGD6, ADAMTS12, SPRY4, MXD3, NUDT12, SLC4A9, ATG10, ROPN1L, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, UTP15, ZCCHC9, MED10, PSD2, SLF1, THOC3, ZBED3, GFM2, CYSTM1, MEGF10, SPINK7, SPZ1, CARD6, TRIM52, HAVCR2, PHYKPL, SMIM3, NKD2, TSLP, FCHSD1, UNC5A, OTULIN, C5orf30, ZNF622, LYRM7, TRIM41, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, NDUFAF2, ZNF300, MYOZ3, UBTD2, LMBRD2, MRPS36, ATP6AP1L, SCGB3A1, PRDM6, FTMT, SFXN1, FNIP1, SNX18, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, C1QTNF3, MARCH3, FCHO2, RAB3C, LYSMD3, EXOC3-AS1, LEAP2, SCGB3A2, ZNF354B, SETD9, IL31RA, EMB, SLCO6A1, C5orf47, PPARGC1B, MROH2B, EGFLAM, PRRC1, NADK2, UGT3A1, CAPSL, JMY, C5orf58, ZNF474, CCDC127, OR2Y1, UBE2QL1, C5orf49, FAM173B, CMBL, POU5F2, DNAJC21, AFAP1L1, GRPEL2, TMEM171, TMEM174, LSM11, POC5, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, ACOT12, SOWAHA, SHROOM1, C5orf24, SREK1, DCANP1, SLC38A9, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, TMEM167A, MBLAC2, TMEM161B, SRFBP1, PLEKHG4B, ZMAT2, MARVELD2, C5orf38, IRX2, BTNL9, ARSK, FAM81B, TTC23L, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, MIER3, CDC20B, UGT3A2, TENT2, DCP2, LIX1, ZNF366, FAM151B, S100Z, ADAMTS16, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, RANBP3L, CCDC125, GAPT, CMYA5, STK32A, LVRN, SLC36A1, RICTOR, EIF4E1B, RASGEF1C, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, FAM153A, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, OR2V2, C5orf64, RNF180, SREK1IP1, ZNF454, C5orf60, RGMB, RFESD, CHSY3, SLC6A19, TMEM173, FAM170A, ARSI, ANKRD34B, PFN3, ZNF879, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, C5orf17, MARCH11, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, ANKRD33B, ZDHHC11B, SCARNA18, SNORA74B, MIR449B, SNHG4, GTF2H2C, SERF1B, ANKDD1B, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
5.
GRCh37:
Chr5:73459011-110145153
GRCh38:
Chr5:74163186-110809453
ARSB, BHMT, CAST, CCNH, CETN3, CHD1, CKMT2, COX7C, CRHBP, HAPLN1, VCAN, DHFR, EFNA5, F2R, F2RL1, F2RL2, FER, GLRX, HEXB, HMGCR, LNPEP, MAN2A1, MEF2C, MSH3, PAM, PCSK1, RASA1, RASGRF2, RPS23, TBCA, NR2F1, THBS4, XRCC4, ST8SIA4, ENC1, AP3B1, PDE8B, HOMER1, SCAMP1, TTC37, ZFYVE16, PJA2, EDIL3, COL4A3BP, LHFPL2, NSA2, POLR3G, IQGAP2, RHOBTB3, ELL2, SV2C, PPIP5K2, OTP, SSBP2, BHMT2, FAM169A, DMGDH, GCNT4, POLK, ERAP1, GIN1, AGGF1, WDR41, LINC01949, RIOK2, ARRDC3, ERAP2, FBXL17, MCTP1, NUDT12, ATG10, SPATA9, FAM172A, ADGRV1, ZCCHC9, SLF1, ZBED3, GFM2, SPZ1, C5orf30, SLC25A46, ATP6AP1L, LYSMD3, SLCO6A1, JMY, POU5F2, POC5, ACOT12, TMEM167A, MBLAC2, TMEM161B, ARSK, FAM81B, TENT2, LIX1, FAM151B, S100Z, LINC01554, CMYA5, ANKRD31, SERINC5, KIAA0825, GPR150, LOC285638, RGMB, LINC00491, RFESD, ANKRD34B, FAM174A, MTX3, SLCO4C1, MIR9-2, LOC441086, LOC441087, NR2F1-AS1, RGMB-AS1, TMEM232, LOC644285, LINC00461, SCARNA18, SNORA47, MIR583, ZBED3-AS1, SCAMP1-AS1, ANKDD1B, LOC731157, ARRDC3-AS1, CKMT2-AS1, LOC100289230, LINC01848, MIR548F3, MIR548P, NCRUPAR, MIR2277, MIR4280, MTRNR2L2, MIR3607, MIR3660, LINC02059, TMEM161B-AS1, LUCAT1, MIR3977, LINC01023, LINC00492, LIX1-AS1, LINC01333, LOC101929109, LOC101929154, CTD-2201I18.1, LOC101929380, MEF2C-AS1, LINC01339, LOC101929710, LINC02115, LINC01950, LINC01335, RASGRF2-AS1, LINC01338, LINC02060, LINC01340, LOC102724720, LINC02062, LINC02113, LINC01337, LINC01331, LINC01336, LINC01157, VCAN-AS1, LINC02144, LINC01846, LINC01455, LOC108175351, CRE1, SNORD138, MEF2C-AS2, LINC02234, LOC110120605, LOC110120636, LOC110120637, LOC110120638, LOC110120640, LOC110120641, LOC110120688, LOC110120699, LOC110120744, LOC110120771, LOC110120789, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121101, LOC110121147, LOC110121176, LOC110121194, LINC02488, LOC111556141, LOC111562375, LOC111591505
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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