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Items: 12

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
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, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, DIAPH1, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, 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, 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
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000607687
2.
GRCh37:
Chr5:13648-180905029
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, 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, 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
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000607681
3.
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, 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, RANBP17, NSD1, SIL1, ARAP3, TMEM267, FBXL17, YTHDC2, 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 providedVCV000442431
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, 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, 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 providedVCV000441920
5.
GRCh37:
Chr5:113577-180719789
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, 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
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000441919
6.
GRCh37:
Chr5:53784524-54985838
Abnormality of esophagus morphologyLikely benign
(Dec 15, 2015)
criteria provided, single submitterVCV000226251
7.
GRCh37:
Chr5:54324085-55235525
GRCh38:
Chr5:55028257-55939697
See casesUncertain significance
(Oct 7, 2011)
no assertion criteria providedVCV000150391
8.
GRCh37:
Chr5:22149-73708550
GRCh38:
Chr5:22149-74412725
IPO11, RXFP3, ZFR, PELO, RETREG1, OTULINL, DHX29, DDX4, MTMR12, SGTB, ARL15, NSUN2, WDR70, BRIX1, C5orf22, CEP72, DEPDC1B, BDP1, ERBIN, ANKH, CCL28, PRDM9, NLN, AHRR, ZSWIM6, ANKRA2, GOLPH3, MCCC2, CENPK, ARHGEF28, TMEM267, AGXT2, SLC30A5, CENPH, MRPL36, GPBP1, CPLANE1, BRD9, FASTKD3, IRX1, PARP8, ANKRD55, PTCD2, ZDHHC11, LPCAT1, SPEF2, ELOVL7, TRAPPC13, CLPTM1L, ADAMTS12, ROPN1L, UTP15, MED10, CARD6, NKD2, OTULIN, ZNF622, NDUFAF2, LMBRD2, MRPS36, SNX18, C1QTNF3, FCHO2, RAB3C, EXOC3-AS1, SETD9, IL31RA, EMB, MROH2B, EGFLAM, NADK2, UGT3A1, CAPSL, CCDC127, UBE2QL1, C5orf49, ATPSCKMT, CMBL, DNAJC21, TMEM171, TMEM174, SREK1, SLC38A9, PLEKHG4B, MARVELD2, C5orf38, IRX2, TTC23L, LOC153684, MIER3, CDC20B, UGT3A2, NIM1K, ZNF366, ADAMTS16, RANBP3L, CCDC125, GAPT, RICTOR, LINC01018, LOC257396, LINC01019, C5orf51, C5orf64, RNF180, SREK1IP1, LINC02112, BASP1-AS1, SLC6A19, LOC340090, LINC01020, LINC02239, LINC02120, PLCXD3, MCIDAS, ACTBL2, SLC6A18, HCN1, C5orf34, MAST4, LRRC14B, LINC02213, ANXA2R, H3.Y, LINC02145, LOC401176, LINC02111, RGS7BP, LINC01194, C5orf17, MARCH11, FLJ31104, GPX8, MIR449A, SNORD72, LOC642366, SMIM15, PURPL, FLJ32255, LINC02223, NIPBL-DT, LOC648987, ANKRD33B, ZDHHC11B, MIR449B, MIR579, MIR580, MIR581, MIR582, GTF2H2C, SERF1B, LINC02226, SNORD123, MIR887, CCDC152, LRRC70, LOC100130744, LOC100132356, SHISAL2B, LOC100272216, LINC02106, SLC9A3-AS1, MIR449C, MIR4279, MIR4277, MIR4278, MIR3650, LINC02102, MIR4458HG, SNHG18, ROPN1L-AS1, LOC100506406, EGFLAM-AS2, LIFR-AS1, C5orf64-AS1, LOC100506548, LOC100506639, OCLN, MRPS30-DT, LOC100506688, LINC01511, LOC100506858, C1QTNF3-AMACR, MIR4458, MIR4804, MIR4459, MIR4457, MIR4637, MIR4636, MIR548AE2, MIR4803, MIR4456, MIR4635, NNT-AS1, MIR5687, EGFLAM-AS4, GDNF-AS1, OXCT1-AS1, LOC100996325, LINCR-0003, IPO11-LRRC70, LSINCT5, LINC01265, LINC02104, LOC101926960, FGF10-AS1, C5orf67, LOC101928505, LINC02225, LINC02101, LINC02108, SMIM15-AS1, LOC101928651, LINC02065, LINC02229, MAST4-AS1, CTD-3080P12.3, LOC101928858, LINC02198, LOC101928924, LINC02116, CTD-2194D22.4, LINC01333, LINC02114, CTD-2297D10.2, LINC02123, LINC02199, SEMA5A-AS1, LINC02212, LINC02149, CTD-2350J17.1, LINC02150, LOC101929524, LINC02217, LOC101929645, LINC02109, LINC02064, LINC02119, OSMR-AS1, AK6, MIR6131, MIR6075, HRAT5, LINC01377, LINC01017, LINC00603, LOC102467080, LOC102467081, LINC01948, LINC02219, LINC02056, LOC102503427, LINC01335, LINC02218, LINC02224, LINC02197, CDH18-AS1, LINC01331, LINC01033, LINC01386, LOC105374620, LINC02162, LINC02063, LINC02121, LINC02142, LINC02221, LINC02220, LINC02241, LINC02146, LINC02211, LINC02228, LINC02103, LOC105374704, LINC02061, LINC02160, LOC105374727, LINC02110, LINC02107, LINC02118, LINC02105, LOC105378979, LINC02057, LINC02242, LOC105379030, LINC02230, LINC02122, LINC01157, LOC106029242, CREST1, CREST2, CREST3, SNORA105A, SNORD141B, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108281172, LOC108348025, FGF10-INT1, LOC109286569, SNORA50D, SNORD13B-1, SNORD13B-2, SNORD170, LINC02236, LOC110120635, LOC110120690, LOC110120695, LOC110120697, LOC110120712, LOC110120713, LOC110120722, LOC110120760, LOC110121020, LOC110121055, LOC110121060, LOC110121170, LOC110806263, LOC110806264, MNS16A, LOC111089946, LOC111365172, LOC111365215, LOC111501791, LOC111556106, LOC111556114, LOC111556121, LOC111828522, SHLD3, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC113002586, LOC113002587, LOC113002588, LOC113002589, LOC113002590, LOC113002591, MIR10522, MIR10397, LOC114004392, LOC114004393, LOC114004394, LOC114803477, LOC114827820, LOC114827841, ADCY2, TRIM23, BTF3, C6, C7, C9, CCNB1, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, ERCC8, CTNND2, DAB2, DAP, DNAH5, FGF10, FOXD1, FYB1, GDNF, GHR, GTF2H2, GZMA, GZMK, HMGCS1, HTR1A, IL6ST, IL7R, ISL1, ITGA1, ITGA2, KIF2A, TNPO1, LIFR, CD180, MAP1B, MAP3K1, MOCS2, MTRR, MYO10, NAIP, NDUFS4, NDUFS6, NPR3, OXCT1, PDE4D, PIK3R1, PRKAA1, PRLR, PTGER4, RAD1, RAD17, RPL37, SDHA, SELENOP, SKP2, SLC1A3, SLC6A3, SLC9A3, SMN1, SMN2, SRD5A1, TAF9, TARS, TERT, TRIO, ZNF131, SERF1A, PLPP1, HSPB3, SEMA5A, OSMR, TRIP13, CARTPT, NUP155, PDCD6, CWC27, MARCH6, CCNO, BASP1, FST, PAIP1, SLC12A7, PLK2, MRPS30, SUB1, TENT4A, TPPP, ESM1, ADAMTS6, EXOC3, CCT5, PDZD2, MRPS27, FBXL7, ICE1, PPWD1, MTREX, NNT, TTC33, AMACR, NIPBL, PP7080, PART1, RAI14, FBXO4, DIMT1, DROSHA, IRX4, TAS2R1, SLC45A2
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000149824
9.
GRCh37:
Chr5:45566963-55802320
GRCh38:
Chr5:45566861-56506493
See casesUncertain significance
(Jan 13, 2012)
no assertion criteria providedVCV000148959
10.
GRCh37:
Chr5:35201661-61198968
GRCh38:
Chr5:35201559-61903141
C6, C7, C9, ERCC8, DAB2, FGF10, FYB1, GDNF, GHR, GZMA, GZMK, HMGCS1, IL6ST, IL7R, ISL1, ITGA1, ITGA2, LIFR, MAP3K1, MOCS2, NDUFS4, OXCT1, PDE4D, PRKAA1, PRLR, PTGER4, RPL37, SELENOP, SKP2, SLC1A3, ZNF131, PLPP1, HSPB3, OSMR, NUP155, CCNO, FST, PAIP1, PLK2, MRPS30, ESM1, MTREX, NNT, TTC33, NIPBL, PART1, FBXO4, PELO, DHX29, DDX4, ARL15, WDR70, DEPDC1B, CCL28, ZSWIM6, TMEM267, GPBP1, CPLANE1, PARP8, ANKRD55, SPEF2, ELOVL7, CARD6, NDUFAF2, LMBRD2, SNX18, RAB3C, SETD9, IL31RA, EMB, MROH2B, EGFLAM, NADK2, UGT3A1, CAPSL, SLC38A9, LOC153684, MIER3, CDC20B, UGT3A2, NIM1K, RANBP3L, GAPT, RICTOR, LOC257396, C5orf51, C5orf64, PLCXD3, MCIDAS, ACTBL2, HCN1, C5orf34, ANXA2R, FLJ31104, GPX8, MIR449A, SNORD72, LOC642366, SMIM15, FLJ32255, NIPBL-DT, LOC648987, MIR449B, MIR580, MIR581, MIR582, CCDC152, LOC100132356, LINC02106, MIR449C, MIR3650, LOC100506406, EGFLAM-AS2, LIFR-AS1, C5orf64-AS1, LOC100506548, LOC100506639, MRPS30-DT, MIR4459, MIR548AE2, NNT-AS1, MIR5687, EGFLAM-AS4, GDNF-AS1, OXCT1-AS1, LINCR-0003, LINC01265, LINC02104, LOC101926960, FGF10-AS1, C5orf67, LOC101928505, LINC02225, LINC02101, LINC02108, SMIM15-AS1, LOC101928651, LINC02119, OSMR-AS1, LINC00603, LOC102467080, LOC102467081, LINC01948, LINC02224, LINC01033, LOC105374727, LINC02110, LINC02107, LINC02118, LINC02105, LOC105378979, LINC02057, LOC106029242, CREST1, CREST2, CREST3, LOC107963949, LOC107963950, LOC108281172, LOC108348025, FGF10-INT1, LOC109286569, LOC110120690, LOC110120697, LOC110120712, LOC110121020, LOC110121055, LOC110121170, LOC111365172, LOC111365215, LOC111501791, LOC111556114, LOC111556121, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC114004392, LOC114004393, LOC114004394
See casesPathogenic
(May 6, 2011)
no assertion criteria providedVCV000148227
11.
GRCh37:
Chr5:49757934-55158813
GRCh38:
Chr5:50462100-55862985
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059608
12.
GRCh37:
Chr5:49584189-62445597
GRCh38:
Chr5:50288355-63149770
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057149
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