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Items: 18

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:133707309
GRCh38:
Chr5:134371618
UBE2B, CDKL3R8Tnot providednot providedno assertion providedVCV000135630
2.
GRCh37:
Chr5:126377719-136270989
not providedLikely pathogenic
(May 18, 2018)
criteria provided, single submitterVCV000624508
3.
GRCh37:
Chr5:25328-180693344
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, 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, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, HCN1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, DIAPH1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, DNAH5, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, C5orf17, MARCH11, IGIP, GPX8, MIR378A, TIFAB, F2RL1, F2RL2, F12, FABP6, FAT2, FBN2, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, 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, 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, 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, CERT1, 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, SEPTIN8, 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, ATPSCKMT, 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
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000607687
4.
GRCh37:
Chr5:13648-180905029
SOX30, TPPP, ESM1, KIF3A, ADAMTS6, MGAT4B, B4GALT7, EXOC3, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, CCT5, SV2C, HMGXB3, PDZD2, TBC1D9B, ARHGAP26, FSTL4, MRPS27, ATP10B, N4BP3, SEPTIN8, 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, OR4F3, 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, ATPSCKMT, 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, ADCY2, ADRA1B, ADRB2, SLC36A1, RICTOR, EIF4E1B, RASGEF1C, ANKRD31, SERINC5, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, EFCAB9, SH3PXD2B, FAM153A, ARL10, KIAA0825, GPR150, BHMT, BNIP1, BTF3, C6, C7, C9, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, OR2V2, CAMK4, CAMK2A, CAMLG, CANX, CAST, CCNB1, C5orf64, RNF180, SREK1IP1, ZNF454, C5orf60, RGMB, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, RFESD, CHSY3, SLC6A19, TMEM173, FAM170A, ARSI, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, ANKRD34B, PFN3, ZNF879, PLCXD3, IRGM, MCIDAS, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, ACTBL2, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, CSNK1G3, VCAN, NKX2-5, CTNNA1, CTNND2, SIMC1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, 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, 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, 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, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1, 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, CERT1, 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
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000607681
5.
GRCh37:
Chr5:86400000-154000000
PCYOX1L, SH3TC2, SAP30L, GLRX, GM2A, GPX3, HMGXB3, ARHGAP26, FSTL4, SEPTIN8, PPIP5K2, ACSL6, TXNDC15, MCTP1, NDFIP1, REEP5, NME5, PDLIM4, JADE2, HARS2, TNFAIP8, PCDHGA12, LRRTM2, CCDC69, KCTD16, SEMA6A, ARRDC3, FBN2, PCDHB5, KLHL3, PKD2L2, UQCRQ, AFF4, IL17B, PCDHB16, HMHB1, EPB41L4A, EGR1, ETF1, FAT2, SLC27A6, SNX24, PCDHB1, TMED7, ISOC1, SAR1B, FBXL17, YTHDC2, GRAMD2B, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, ZMAT2, ARSK, FAM81B, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, NMUR2, FEM1C, C5orf15, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PRR16, COMMD10, LARS, PCDHB@, PCDHA@, PCDHB15, PCDHB14, PCDHB13, PCDHB12, CXXC5, RAPGEF6, ERAP1, KDM3B, PHAX, RBM27, ZCCHC10, GIN1, WDR55, ANKHD1, TMCO6, TRIM36, GALNT10, RBM22, RIOK2, CDC42SE2, TRPC7, ZNF608, FER, FGF1, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, VTRNA1-3, FBXO38, YIPF5, TIGD6, SPRY4, NUDT12, SLC4A9, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, PSD2, SLF1, CYSTM1, MEGF10, SPINK7, SMIM3, TSLP, FCHSD1, C5orf30, LYRM7, SLC25A46, CDKN2AIPNL, PAIP2, CDKL3, PCDH12, ZNF300, MYOZ3, PRDM6, FTMT, FNIP1, SLC35A4, MARCH3, LYSMD3, LEAP2, SCGB3A2, SLCO6A1, PPARGC1B, PRRC1, ZNF474, POU5F2, AFAP1L1, GRPEL2, GPR151, STARD4, WDR36, SOWAHA, SHROOM1, C5orf24, DCANP1, RELL2, SLC36A3, RGMB, RFESD, CHSY3, TMEM173, FAM170A, ARSI, IRGM, FAM174A, CATSPER3, SLCO4C1, TICAM2, DND1, TEX43, PROB1, C5orf46, ARHGEF37, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR143, MIR145, MIR9-2, EFNA5, SPINK14, IGIP, MIR378A, TIFAB, CTXN3, ECSCR, TMEM232, GRXCR2, SPINK9, ARL14EPL, CCNI2, SNHG4, VTRNA2-1, MINAR2, TMED7-TICAM2, LUCAT1, UBE2D2, DCTN4, MZB1, HBEGF, UBE2B, ADRB2, ANXA6, APC, ATOX1, ALDH7A1, CAMK4, CAMK2A, CAMLG, CAST, CCNH, CD14, CD74, CDC25C, CDO1, CDX1, CETN3, CHD1, AP3S1, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, DMXL1, DIAPH1, DPYSL3, SLC26A2, NDST1, HTR4, IK, IL3, IL4, IL5, EIF4EBP3, PCDHGB4, CDC23, IL9, IL13, IRF1, KCNN2, LECT2, LMNB1, VTRNA1-2, VTRNA1-1, NRG2, CXCL14, H2AFY, LNPEP, LOX, SMAD5, MAN2A1, MCC, MEF2C, HDAC3, P4HA2, ATG12, MFAP3, NDUFA2, NEUROG1, PAM, PCDH1, PCDHGC3, NREP, HAND1, MYOT, PCSK1, PDE6A, PDGFRB, PFDN1, PGGT1B, PITX1, CCDC112, PRELID2, SH3RF2, PLAC8L1, DCP2, LIX1, RNF14, SNCAIP, TTC37, POU4F3, PPIC, PPP2CA, PPP2R2B, PURA, ADAMTS19, SPATA24, DNAJC18, PCDHGA8, PCDHA9, MATR3, RASA1, RPS14, SKP1, SLC6A7, SLC12A2, SLC22A4, KIAA0825, GPR150, DTWD2, FAM13B, FAM53C, REEP2, SLC22A5, SNX2, SPARC, SPINK1, SPOCK1, SRP19, MBLAC2, TMEM161B, SRFBP1, VDAC1, WNT8A, ST8SIA4, TAF7, TCF7, TCOF1, NR2F1, TGFBI, STK32A, LVRN, SLC36A1, GDF9, GFRA3, GLRA1, DELE1, JAKMIP2, PJA2, DDX46, SLC23A1, GNPDA1, GRIA1, SRA1, RAD50, KIF20A, G3BP1, APBB3, TNIP1, SPINK13, CEP120, SLC25A48, NR3C1, HARS, HINT1, POLR3G, SEC24A, FAM114A2, BRD8, TCERG1, HNRNPA0, ERAP2, SIL1, ARAP3, HSD17B4, HSPA4, HSPA9, SPINK5, KIF3A, SYNPO, RHOBTB3, ABLIM3, ELL2, SLC36A2
Hereditary cancer-predisposing syndromePathogenic
(Apr 26, 2017)
criteria provided, single submitterVCV000457359
6.
GRCh37:
Chr5:17628741-176575720
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, 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, CERT1, 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, SEPTIN8, 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
See casesPathogenic
(Feb 1, 2016)
no assertion criteria providedVCV000442431
7.
GRCh37:
Chr5:113577-180719789
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, ATPSCKMT, 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, 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, CERT1, 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, SEPTIN8, 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
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000441920
8.
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, CERT1, 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, SEPTIN8, 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, YTHDC2, NSD1, SIL1, ARAP3, TMEM267, RMND5B, FBXL17, 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, ATPSCKMT, 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 providedVCV000441919
9.
GRCh37:
Chr5:94844077-178830410
ADRA1B, ADRB2, ANXA6, APC, ATOX1, ALDH7A1, BNIP1, CAMK4, CAMK2A, CAMLG, CAST, CCNG1, CD14, CD74, CDC25C, CDO1, CDX1, CHD1, AP3S1, CLTB, CSF1R, CSF2, CSNK1A1, CSNK1G3, NKX2-5, CTNNA1, DBN1, DMXL1, DIAPH1, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F12, FABP6, FAT2, FBN2, FER, FGF1, FGFR4, FOXI1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GFRA3, GLRA1, GLRX, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, HARS, HINT1, HK3, HMMR, HNRNPAB, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR4, IK, IL3, IL4, IL5, IL9, IL12B, IL13, IRF1, ITK, KCNMB1, KCNN2, LCP2, LECT2, LMNB1, LNPEP, LOX, SMAD5, MAN2A1, MCC, MFAP3, MSX2, NDUFA2, NEUROG1, NPM1, PAM, PCDH1, PCDHGC3, PCSK1, PDE6A, PDGFRB, PFDN1, PGGT1B, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PROP1, PURA, RARS, RPS14, SGCD, SKP1, SLC6A7, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRP19, STK10, TAF7, TCF7, ZNF354A, TCOF1, TGFBI, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, ST8SIA4, REEP5, NME5, PDLIM4, STC2, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, P4HA2, ATP6V0E1, ATG12, PTTG1, PDLIM7, NREP, CNOT8, HAND1, MED7, MYOT, ADAMTS2, NRG2, CXCL14, H2AFY, RNF14, SNCAIP, TTC37, CLINT1, PCDHGA8, PCDHA9, MATR3, DELE1, JAKMIP2, PJA2, DDX46, SLC23A1, GNPDA1, SRA1, RAD50, KIF20A, G3BP1, APBB3, TNIP1, SLU7, RGS14, SEC24A, CPLX2, FAXDC2, FAM114A2, BRD8, TCERG1, HNRNPA0, LMAN2, SPINK5, SOX30, KIF3A, B4GALT7, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, HMGXB3, ARHGAP26, FSTL4, ATP10B, N4BP3, SEPTIN8, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, HARS2, ZNF346, TNFAIP8, GEMIN5, PCDHGA12, LRRTM2, CCDC69, PCDHB5, KLHL3, TSPAN17, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, MAT2B, SLC27A6, SNX24, MRPL22, PCDHB1, TLX3, KCNIP1, ZNF354C, TMED7, ISOC1, RPL26L1, SAR1B, DCTN4, MZB1, PAIP2, CDKL3, PCDH12, FAM13B, FAM53C, REEP2, PRR16, COMMD10, DDX41, NOP16, LARS, CXXC5, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, RAB24, RBM27, NEURL1B, FAM193B, TMED9, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, SPDL1, THG1L, TMCO6, TRIM36, GALNT10, NHP2, RBM22, RIOK2, 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, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, ZNF608, KCTD16, SEMA6A, PCDHB16, HMHB1, ZBED8, EPB41L4A, ERAP2, NSD1, SIL1, ARAP3, RMND5B, FBXL17, YTHDC2, RANBP17, GRAMD2B, PCYOX1L, CCNJL, SH3TC2, PANK3, SAP30L, TXNDC15, DOK3, ZFP2, CPEB4, PRR7, NDFIP1, FBXO38, YIPF5, TIGD6, SPRY4, MXD3, NUDT12, SLC4A9, SLC25A2, SPATA9, TSSK1B, PCBD2, PSD2, THOC3, CYSTM1, MEGF10, SPINK7, HAVCR2, PHYKPL, SMIM3, TSLP, FCHSD1, UNC5A, C5orf30, LYRM7, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, ZNF300, MYOZ3, UBTD2, PRDM6, FTMT, SFXN1, FNIP1, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, MARCH3, LEAP2, SCGB3A2, ZNF354B, SLCO6A1, C5orf47, PPARGC1B, PRRC1, C5orf58, ZNF474, AFAP1L1, GRPEL2, LSM11, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, SOWAHA, SHROOM1, C5orf24, DCANP1, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, SRFBP1, ZMAT2, ARSK, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, DCP2, LIX1, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, STK32A, LVRN, SLC36A1, EIF4E1B, EFCAB9, SH3PXD2B, FAM153A, ARL10, GPR150, DTWD2, RELL2, SLC36A3, KIF4B, ZNF454, RGMB, RFESD, CHSY3, TMEM173, FAM170A, ARSI, PFN3, ZNF879, IRGM, FAM174A, CATSPER3, NIPAL4, SLCO4C1, TICAM2, DND1, SIMC1, TEX43, PROB1, C5orf46, ARHGEF37, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, SPINK14, FNDC9, IGIP, MIR378A, TIFAB, CTXN3, ECSCR, TMEM232, GRXCR2, SPINK9, ARL14EPL, SMIM23, CCNI2, SNORA74B, SNHG4, VTRNA2-1, MINAR2, LOC100128059, INSYN2B, C5orf52, LOC100288254, TMED7-TICAM2
not providedLikely benign
(Jan 31, 2017)
criteria provided, single submitterVCV000425542
10.
GRCh37:
Chr5:130125085-157574910
ADRB2, ANXA6, ATOX1, CAMK2A, CAMLG, CD14, CD74, CDC25C, CDX1, CSF1R, CSF2, CSNK1A1, CTNNA1, DIAPH1, DPYSL3, SLC26A2, HBEGF, EGR1, ETF1, FAT2, FGF1, GDF9, GFRA3, GLRA1, GM2A, GPX3, GRIA1, NR3C1, HARS, HINT1, HSPA4, HSPA9, NDST1, HTR4, IK, IL3, IL4, IL5, IL9, IL13, IRF1, ITK, LECT2, SMAD5, MFAP3, NDUFA2, NEUROG1, PCDH1, PCDHGC3, PDE6A, PDGFRB, PFDN1, PITX1, POU4F3, PPP2CA, PPP2R2B, PURA, RPS14, SGCD, SKP1, SLC6A7, SLC22A4, SLC22A5, SPARC, SPINK1, SPOCK1, TAF7, TCF7, TCOF1, TGFBI, UBE2B, UBE2D2, VDAC1, WNT8A, NME5, PDLIM4, EIF4EBP3, PCDHGB4, CDC23, ADAM19, HDAC3, P4HA2, CNOT8, HAND1, MED7, MYOT, NRG2, CXCL14, H2AFY, RNF14, CLINT1, PCDHGA8, PCDHA9, MATR3, DELE1, JAKMIP2, DDX46, SLC23A1, GNPDA1, SRA1, RAD50, KIF20A, G3BP1, APBB3, TNIP1, SEC24A, FAXDC2, FAM114A2, BRD8, TCERG1, HNRNPA0, SPINK5, SOX30, KIF3A, SYNPO, ABLIM3, HMGXB3, ARHGAP26, FSTL4, SEPTIN8, ACSL6, JADE2, LARP1, HARS2, GEMIN5, PCDHGA12, LRRTM2, CCDC69, PCDHB5, KLHL3, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, IL17B, MRPL22, PCDHB1, SAR1B, DCTN4, MZB1, PAIP2, CDKL3, PCDH12, FAM13B, FAM53C, REEP2, LARS, CXXC5, RAPGEF6, KDM3B, RBM27, ZCCHC10, WDR55, ANKHD1, THG1L, TMCO6, GALNT10, RBM22, 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, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, C5orf15, CDC42SE2, TRPC7, KCTD16, PCDHB16, HMHB1, SIL1, ARAP3, PCYOX1L, SH3TC2, SAP30L, TXNDC15, NDFIP1, FBXO38, YIPF5, TIGD6, SPRY4, SLC4A9, SLC25A2, PCBD2, PSD2, CYSTM1, SPINK7, HAVCR2, SMIM3, FCHSD1, LYRM7, CDKN2AIPNL, TIMD4, ZNF300, MYOZ3, FNIP1, SLC35A4, LEAP2, SCGB3A2, PPARGC1B, AFAP1L1, GRPEL2, LSM11, GPR151, SOWAHA, SHROOM1, C5orf24, DCANP1, SLC36A2, SPINK13, SLC25A48, ZMAT2, FAM71B, PRELID2, SH3RF2, PLAC8L1, SPATA24, DNAJC18, STK32A, SLC36A1, RELL2, SLC36A3, KIF4B, TMEM173, ARSI, IRGM, CATSPER3, NIPAL4, DND1, PROB1, C5orf46, ARHGEF37, SPINK6, ANKHD1-EIF4EBP3, MIR143, MIR145, SPINK14, FNDC9, IGIP, MIR378A, TIFAB, ECSCR, GRXCR2, SPINK9, CCNI2, SNHG4, VTRNA2-1, C5orf52
See casesPathogenicno assertion criteria providedVCV000396308
11.
GRCh37:
Chr5:106716357-180687338
SEC24A, CPLX2, FAXDC2, FAM114A2, BRD8, TCERG1, BTNL3, HNRNPA0, LMAN2, SPINK5, SOX30, KIF3A, MGAT4B, B4GALT7, SYNPO, RNF44, ABLIM3, HMGXB3, TBC1D9B, ARHGAP26, FSTL4, ATP10B, N4BP3, SEPTIN8, FAF2, WWC1, FBXW11, ACSL6, JADE2, LARP1, HARS2, ZNF346, TNFAIP8, GEMIN5, PCDHGA12, LRRTM2, CCDC69, PCDHB5, KLHL3, TSPAN17, OR2V1, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, MAT2B, SLC27A6, SNX24, MRPL22, PCDHB1, TLX3, KCNIP1, ZNF354C, TMED7, ISOC1, RPL26L1, SAR1B, MRNIP, DCTN4, MZB1, PAIP2, CDKL3, PCDH12, FAM13B, FAM53C, REEP2, PRR16, COMMD10, DDX41, NOP16, LARS, CXXC5, UIMC1, RAPGEF6, KDM3B, PHAX, RAB24, RBM27, NEURL1B, FAM193B, TMED9, ZCCHC10, CDHR2, WDR55, ANKHD1, SPDL1, THG1L, TMCO6, TRIM36, GALNT10, NHP2, RBM22, RNF130, 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, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, ZNF608, KCTD16, SEMA6A, PCDHB16, HMHB1, ZBED8, EPB41L4A, NSD1, SIL1, ARAP3, RMND5B, FBXL17, YTHDC2, RANBP17, GRAMD2B, PCYOX1L, CCNJL, SH3TC2, PANK3, SAP30L, TXNDC15, BTNL8, DOK3, ZFP2, RUFY1, CPEB4, PRR7, NDFIP1, FBXO38, YIPF5, TRIM7, TIGD6, SPRY4, MXD3, SLC4A9, SLC25A2, TSSK1B, PCBD2, PSD2, THOC3, CYSTM1, MEGF10, SPINK7, TRIM52, HAVCR2, PHYKPL, SMIM3, TSLP, FCHSD1, UNC5A, LYRM7, TRIM41, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, ZNF300, MYOZ3, UBTD2, SCGB3A1, PRDM6, FTMT, SFXN1, FNIP1, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, MARCH3, LEAP2, SCGB3A2, ZNF354B, C5orf47, PPARGC1B, PRRC1, C5orf58, ZNF474, OR2Y1, AFAP1L1, GRPEL2, LSM11, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, SOWAHA, SHROOM1, C5orf24, DCANP1, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, SRFBP1, ZMAT2, BTNL9, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, DCP2, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, STK32A, LVRN, SLC36A1, EIF4E1B, RASGEF1C, EFCAB9, SH3PXD2B, FAM153A, ARL10, DTWD2, RELL2, SLC36A3, KIF4B, OR2V2, ZNF454, C5orf60, CHSY3, TMEM173, FAM170A, ARSI, PFN3, ZNF879, IRGM, CATSPER3, NIPAL4, TICAM2, DND1, SIMC1, TEX43, PROB1, C5orf46, ARHGEF37, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, SPINK14, FNDC9, IGIP, MIR378A, TIFAB, CTXN3, ECSCR, TMEM232, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, SNORA74B, SNHG4, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, INSYN2B, C5orf52, LOC100288254, TMED7-TICAM2, ADRA1B, ADRB2, ANXA6, APC, ATOX1, ALDH7A1, BNIP1, CAMK4, CAMK2A, CAMLG, CANX, CCNG1, CD14, CD74, CDC25C, CDO1, CDX1, AP3S1, CLTB, CSF1R, CSF2, CSNK1A1, CSNK1G3, NKX2-5, CTNNA1, DBN1, DMXL1, DIAPH1, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F12, FABP6, FAT2, FBN2, FER, FGF1, FGFR4, FOXI1, FLT4, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GFRA3, GLRA1, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, HARS, HINT1, HK3, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR4, IK, IL3, IL4, IL5, IL9,