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Items: 41

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:178699902-179263603
CANX, HNRNPH1, LTC4S, SQSTM1, ADAMTS2, MAML1, MGAT4B, RUFY1, C5orf60, CBY3Ehlers-Danlos syndrome dermatosparaxis typeUncertain significance
(Oct 20, 2020)
criteria provided, single submitterVCV001042381
2.
GRCh37:
Chr5:178770758-179263603
CBY3, CANX, RUFY1, HNRNPH1, ADAMTS2, MAML1, MGAT4B, C5orf60, SQSTM1, LTC4SAmyotrophic lateral sclerosis and/or frontotemporal dementia 1, Paget disease of bone 2, early-onsetUncertain significance
(Oct 15, 2020)
criteria provided, single submitterVCV001023048
3.
GRCh37:
Chr5:170805664-180719789
5q35 microduplication syndromePathogenicno assertion criteria providedVCV000981214
4.
GRCh37:
Chr5:178487249-180622216
not providedUncertain significance
(Dec 14, 2018)
no assertion criteria providedVCV000814763
5.
GRCh37:
Chr5:176848982-180719789
not providedPathogenic
(Apr 12, 2017)
no assertion criteria providedVCV000686512
6.
GRCh37:
Chr5:179065654-179541490
Sensorineural hearing lossUncertain significance
(Apr 4, 2019)
no assertion criteria providedVCV000635776
7.
GRCh37:
Chr5:175843728-180703728
not providedLikely pathogenicno assertion criteria providedVCV000626286
8.
GRCh37:
Chr5:174990352-180690937
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625703
9.
GRCh37:
Chr5:177776148-180687012
not providedLikely pathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625655
10.
GRCh37:
Chr5:174832617-180693344
not providedPathogenic
(Aug 16, 2014)
no assertion criteria providedVCV000608700
11.
GRCh37:
Chr5:155344802-180693344
not providedPathogenic
(Oct 30, 2014)
no assertion criteria providedVCV000608648
12.
GRCh37:
Chr5:25328-180693344
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, LARS1, 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, MACIR, 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, MARCHF3, 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, 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, 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, STING1, FAM170A, ARSI, ANKRD34B, 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, 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, LINC02899, MARCHF11, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, 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, HARS1, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR1A, HTR4, IK, IL3, IL4, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, ANKRD33B, ZDHHC11B, SCARNA18, SNORA74B, MIR449B, SNHG4, OTULIN-DT, 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, 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, RARS1, 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, TARS1, 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, MACROH2A1, 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, MARCHF6, 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
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000607687
13.
GRCh37:
Chr5:13648-180905029
ADCY2, ADRA1B, ADRB2, ANXA6, APC, TRIM23, RASGEF1C, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, FAM153A, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, C6, C7, C9, CAMK4, CAMK2A, CAMLG, SLC36A3, KIF4B, OR2V2, C5orf64, RNF180, SREK1IP1, CANX, CAST, CCNB1, CCNG1, CCNH, CD14, ZNF454, C5orf60, RGMB, RFESD, CHSY3, SLC6A19, CD74, CDC25C, CDH6, CDH9, CDH10, CDH12, STING1, FAM170A, ARSI, ANKRD34B, PFN3, ZNF879, CDH18, CDK7, CDO1, CDX1, CETN3, CHD1, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, CATSPER3, SLC6A18, NIPAL4, HCN1, SLCO4C1, TICAM2, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, DND1, C5orf34, MAST4, SIMC1, LRRC14B, ANXA2R, 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, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, LINC02899, MARCHF11, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, ANKRD33B, ZDHHC11B, SCARNA18, SNORA74B, MIR449B, SNHG4, OTULIN-DT, GTF2H2C, SERF1B, ANKDD1B, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, GTF2H2, GZMA, GZMK, HARS1, 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, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1, 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, RARS1, 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, TARS1, 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, MACROH2A1, 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, MARCHF6, 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, 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, LARS1, 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, MACIR, 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, MARCHF3, 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
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000607681
14.
GRCh37:
Chr5:179016558-179409873
not providedUncertain significance
(Nov 30, 2017)
no assertion criteria providedVCV000563135
15.
GRCh37:
Chr5:178904345-179529124
not providedUncertain significance
(Oct 3, 2017)
no assertion criteria providedVCV000563134
16.
GRCh37:
Chr5:177114088-180719789
not providedUncertain significance
(Mar 19, 2018)
no assertion criteria providedVCV000563131
17.
GRCh37:
Chr5:177535168-180719789
See casesUncertain significance
(Dec 8, 2014)
no assertion criteria providedVCV000443453
18.
GRCh37:
Chr5:175570677-180719789
See casesPathogenic
(Jun 3, 2014)
no assertion criteria providedVCV000443005
19.
GRCh37:
Chr5:172031248-180719789
See casesPathogenic
(Sep 30, 2014)
no assertion criteria providedVCV000442855
20.
GRCh37:
Chr5:113577-180719789
ABLIM3, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADAMTS6, ADCY2, ADGRV1, ADRA1B, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, AHRR, ALDH7A1, AMACR, ANKDD1B, ANKH, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARRDC3, ARSB, ARSI, ARSK, ATG10, ATG12, ATOX1, ATP10B, ATP6AP1L, ATP6V0E1, ATPSCKMT, B4GALT7, BASP1, BDP1, BHMT, BHMT2, BNIP1, BOD1, BRD8, BRD9, BRIX1, BTF3, BTNL3, BTNL8, BTNL9, C1QTNF2, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf38, C5orf46, C5orf47, C5orf49, C5orf51, C5orf52, C5orf58, C5orf60, C5orf63, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CANX, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CBY3, CCDC112, CCDC125, CCDC127, CCDC152, CCDC69, CCL28, CCNB1, CCNG1, CCNH, CCNI2, CCNJL, CCNO, CCT5, CD14, CD180, CD74, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CDKN2AIPNL, CDO1, CDX1, CENPH, CENPK, CEP120, CEP72, CERT1, CETN3, CHD1, CHSY3, CKMT2, CLINT1, CLK4, CLPTM1L, CLTB, CMBL, CMYA5, CNOT6, CNOT8, COL23A1, COMMD10, COX7C, CPEB4, CPLANE1, CPLX2, CREBRF, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTNND2, CTXN3, CWC27, CXCL14, CXXC5, CYFIP2, CYSTM1, DAB2, DAP, DBN1, DCANP1, DCP2, DCTN4, DDX4, DDX41, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DNAJC21, DND1, DOCK2, DOK3, DPYSL3, DRD1, DROSHA, DTWD2, DUSP1, EBF1, ECSCR, EDIL3, EFCAB9, EFNA5, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, EGR1, EIF4E1B, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ERGIC1, ESM1, ETF1, EXOC3, EXOC3-AS1, F12, F2R, F2RL1, F2RL2, FABP6, FAF2, FAM114A2, FAM13B, FAM151B, FAM153A, FAM153B, FAM169A, FAM170A, FAM172A, FAM174A, FAM193B, FAM53C, FAM71B, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL7, FBXO38, FBXO4, FBXW11, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FGF18, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FST, FSTL4, FTMT, FYB1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GAPT, GCNT4, GDF9, GDNF, GDNF-AS1, GEMIN5, GFM2, GFPT2, GFRA3, GHR, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPRIN1, GPX3, GPX8, GRAMD2B, GRIA1, GRK6, GRM6, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAND1, HAPLN1, HARS1, HARS2, HAVCR1, HAVCR2, HBEGF, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGCR, HMGCS1, HMGXB3, HMHB1, HMMR, HNRNPA0, HNRNPAB, HNRNPH1, HOMER1, HRH2, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, ICE1, IGIP, IK, IL12B, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, INSYN2B, IPO11, IQGAP2, IRF1, IRGM, IRX1, IRX2, IRX4, ISL1, ISOC1, ITGA1, ITGA2, ITK, JADE2, JAKMIP2, JMY, KCNIP1, KCNMB1, KCNN2, KCTD16, KDM3B, KIAA0825, KIAA1191, KIF20A, KIF2A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LCP2, LEAP2, LECT2, LHFPL2, LIFR, LINC01194, LINC02899, LIX1, LMAN2, LMBRD2, LMNB1, LNPEP, LOC100128059, LOC100288254, LOX, LPCAT1, LRRC14B, LRRC70, LRRTM2, LSM11, LTC4S, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAML1, MAN2A1, MAP1B, MAP3K1, MAPK9, MARCHF11, MARCHF3, MARCHF6, MARVELD2, MAST4, MAT2B, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MED10, MED7, MEF2C, MEGF10, MFAP3, MGAT1, MGAT4B, MIER3, MINAR2, MIR103A1, MIR143, MIR145, MIR146A, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MRNIP, MROH2B, MRPL22, MRPL36, MRPS27, MRPS30, MRPS36, MSH3, MSX2, MTMR12, MTREX, MTRNR2L2, MTRR, MTX3, MXD3, MYO10, MYOT, MYOZ3, MZB1, N4BP3, NADK2, NAIP, NCRUPAR, NDFIP1, NDST1, NDUFA2, NDUFAF2, NDUFS4, NDUFS6, NEURL1B, NEUROG1, NHP2, NIPAL4, NIPBL, NKD2, NKX2-5, NLN, NME5, NMUR2, NNT, NOP16, NPM1, NPR3, NR2F1, NR3C1, NREP, NRG2, NSA2, NSD1, NSUN2, NUDCD2, NUDT12, NUP155, OCLN, OR2V1, OR2V2, OR2Y1, OSMR, OTP, OTULIN, OTULIN-DT, OTULINL, OXCT1, P4HA2, PAIP1, PAIP2, PAM, PANK3, PARP8, PART1, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDCD6, PDE4D, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PFDN1, PFN3, PGGT1B, PHAX, PHYKPL, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLCXD3, PLEKHG4B, PLK2, PLPP1, POC5, POLK, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID1, PRELID2, PRKAA1, PRLR, PROB1, PROP1, PRR16, PRR7, PRRC1, PSD2, PTCD2, PTGER4, PTTG1, PURA, PWWP2A, RAB24, RAB3C, RACK1, RAD1, RAD17, RAD50, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS1, RASA1, RASGEF1C, RASGRF2, RBM22, RBM27, REEP2, REEP5, RELL2, RETREG1, RFESD, RGMB, RGS14, RGS7BP, RHOBTB3, RICTOR, RIOK2, RMND5B, RNF130, RNF14, RNF145, RNF180, RNF44, ROPN1L, RPL26L1, RPL37, RPS14, RPS23, RUFY1, RXFP3, S100Z, SAP30L, SAR1B, SCAMP1, SCARNA18, SCGB3A1, SCGB3A2, SDHA, SEC24A, SELENOP, SEMA5A, SEMA6A, SEPTIN8, SERF1A, SERF1B, SERINC5, SETD9, SFXN1, SGCD, SGTB, SH3PXD2B, SH3RF2, SH3TC2, SHISAL2B, SHROOM1, SIL1, SIMC1, SKP1, SKP2, SLC12A2, SLC12A7, SLC1A3, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC34A1, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLF1, SLIT3, SLU7, SMAD5, SMIM15, SMIM23, SMIM3, SMN1, SMN2, SNCAIP, SNCB, SNHG4, SNORA74B, SNX18, SNX2, SNX24, SOWAHA, SOX30, SPARC, SPATA24, SPATA9, SPDL1, SPEF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1, SREK1IP1, SRFBP1, SRP19, SSBP2, ST8SIA4, STARD4, STC2, STING1, STK10, STK32A, SUB1, SV2C, SYNPO, TAF7, TAF9, TARS1, TAS2R1, TBC1D9B, TBCA, TCERG1, TCF7, TCOF1, TENM2, TENT2, TENT4A, TERT, TEX43, TGFBI, THBS4, THG1L, THOC3, TICAM2, TIFAB, TIGD6, TIMD4, TLX3, TMCO6, TMED7, TMED7-TICAM2, TMED9, TMEM161B, TMEM167A, TMEM171, TMEM174, TMEM232, TMEM267, TNFAIP8, TNIP1, TNPO1, TPPP, TRAPPC13, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRIP13, TRK-CTT2-3, TRP-TGG3-1, TRPC7, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSLP, TSPAN17, TSSK1B, TTC1, TTC23L, TTC33, TTC37, TXNDC15, UBE2B, UBE2D2, UBE2QL1, UBLCP1, UBTD2, UGT3A1, UGT3A2, UIMC1, UNC5A, UQCRQ, UTP15, VCAN, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR41, WDR55, WDR70, WNT8A, WWC1, XRCC4, YIPF5, YTHDC2, ZBED3, ZBED8, ZCCHC10, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608, ZNF622, ZNF879, ZSWIM6
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000441920
21.
GRCh37:
Chr5:113577-180719789
ARHGEF37, ARL10, ARL14EPL, ARL15, ARRDC3, ARSB, ARSI, ARSK, ATG10, ATG12, ATOX1, ATP10B, ATP6AP1L, ATP6V0E1, ATPSCKMT, B4GALT7, BASP1, BDP1, BHMT, BHMT2, BNIP1, BOD1, BRD8, BRD9, BRIX1, BTF3, BTNL3, BTNL8, BTNL9, C1QTNF2, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf38, C5orf46, C5orf47, C5orf49, C5orf51, C5orf52, C5orf58, C5orf60, C5orf63, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CANX, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CBY3, CCDC112, CCDC125, CCDC127, CCDC152, CCDC69, CCL28, CCNB1, CCNG1, CCNH, CCNI2, CCNJL, CCNO, CCT5, CD14, CD180, CD74, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CDKN2AIPNL, CDO1, CDX1, CENPH, CENPK, CEP120, CEP72, CERT1, CETN3, CHD1, CHSY3, CKMT2, CLINT1, CLK4, CLPTM1L, CLTB, CMBL, CMYA5, CNOT6, CNOT8, COL23A1, COMMD10, COX7C, CPEB4, CPLANE1, CPLX2, CREBRF, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTNND2, CTXN3, CWC27, CXCL14, CXXC5, CYFIP2, CYSTM1, DAB2, DAP, DBN1, DCANP1, DCP2, DCTN4, DDX4, DDX41, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DNAJC21, DND1, DOCK2, DOK3, DPYSL3, DRD1, DROSHA, DTWD2, DUSP1, EBF1, ECSCR, EDIL3, EFCAB9, EFNA5, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, EGR1, EIF4E1B, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ERGIC1, ESM1, ETF1, EXOC3, EXOC3-AS1, F12, F2R, F2RL1, F2RL2, FABP6, FAF2, FAM114A2, FAM13B, FAM151B, FAM153A, FAM153B, FAM169A, FAM170A, FAM172A, FAM174A, FAM193B, FAM53C, FAM71B, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL7, FBXO38, FBXO4, FBXW11, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FGF18, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FST, FSTL4, FTMT, FYB1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GAPT, GCNT4, GDF9, GDNF, GDNF-AS1, GEMIN5, GFM2, GFPT2, GFRA3, GHR, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPRIN1, GPX3, GPX8, GRAMD2B, GRIA1, GRK6, GRM6, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAND1, HAPLN1, HARS1, HARS2, HAVCR1, HAVCR2, HBEGF, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGCR, HMGCS1, HMGXB3, HMHB1, HMMR, HNRNPA0, HNRNPAB, HNRNPH1, HOMER1, HRH2, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, ICE1, IGIP, IK, IL12B, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, INSYN2B, IPO11, IQGAP2, IRF1, IRGM, IRX1, IRX2, IRX4, ISL1, ISOC1, ITGA1, ITGA2, ITK, JADE2, JAKMIP2, JMY, KCNIP1, KCNMB1, KCNN2, KCTD16, KDM3B, KIAA0825, KIAA1191, KIF20A, KIF2A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LCP2, LEAP2, LECT2, LHFPL2, LIFR, LINC01194, LINC02899, LIX1, LMAN2, LMBRD2, LMNB1, LNPEP, LOC100128059, LOC100288254, LOX, LPCAT1, LRRC14B, LRRC70, LRRTM2, LSM11, LTC4S, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAML1, MAN2A1, MAP1B, MAP3K1, MAPK9, MARCHF11, MARCHF3, MARCHF6, MARVELD2, MAST4, MAT2B, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MED10, MED7, MEF2C, MEGF10, MFAP3, MGAT1, MGAT4B, MIER3, MINAR2, MIR103A1, MIR143, MIR145, MIR146A, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MRNIP, MROH2B, MRPL22, MRPL36, MRPS27, MRPS30, MRPS36, MSH3, MSX2, MTMR12, MTREX, MTRNR2L2, MTRR, MTX3, MXD3, MYO10, MYOT, MYOZ3, MZB1, N4BP3, NADK2, NAIP, NCRUPAR, NDFIP1, NDST1, NDUFA2, NDUFAF2, NDUFS4, NDUFS6, NEURL1B, NEUROG1, NHP2, NIPAL4, NIPBL, NKD2, NKX2-5, NLN, NME5, NMUR2, NNT, NOP16, NPM1, NPR3, NR2F1, NR3C1, NREP, NRG2, NSA2, NSD1, NSUN2, NUDCD2, NUDT12, NUP155, OCLN, OR2V1, OR2V2, OR2Y1, OSMR, OTP, OTULIN, OTULIN-DT, OTULINL, OXCT1, P4HA2, PAIP1, PAIP2, PAM, PANK3, PARP8, PART1, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDCD6, PDE4D, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PFDN1, PFN3, PGGT1B, PHAX, PHYKPL, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLCXD3, PLEKHG4B, PLK2, PLPP1, POC5, POLK, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID1, PRELID2, PRKAA1, PRLR, PROB1, PROP1, PRR16, PRR7, PRRC1, PSD2, PTCD2, PTGER4, PTTG1, PURA, PWWP2A, RAB24, RAB3C, RACK1, RAD1, RAD17, RAD50, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS1, RASA1, RASGEF1C, RASGRF2, RBM22, RBM27, REEP2, REEP5, RELL2, RETREG1, RFESD, RGMB, RGS14, RGS7BP, RHOBTB3, RICTOR, RIOK2, RMND5B, RNF130, RNF14, RNF145, RNF180, RNF44, ROPN1L, RPL26L1, RPL37, RPS14, RPS23, RUFY1, RXFP3, S100Z, SAP30L, SAR1B, SCAMP1, SCARNA18, SCGB3A1, SCGB3A2, SDHA, SEC24A, SELENOP, SEMA5A, SEMA6A, SEPTIN8, SERF1A, SERF1B, SERINC5, SETD9, SFXN1, SGCD, SGTB, SH3PXD2B, SH3RF2, SH3TC2, SHISAL2B, SHROOM1, SIL1, SIMC1, SKP1, SKP2, SLC12A2, SLC12A7, SLC1A3, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC34A1, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLF1, SLIT3, SLU7, SMAD5, SMIM15, SMIM23, SMIM3, SMN1, SMN2, SNCAIP, SNCB, SNHG4, SNORA74B, SNX18, SNX2, SNX24, SOWAHA, SOX30, SPARC, SPATA24, SPATA9, SPDL1, SPEF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1, SREK1IP1, SRFBP1, SRP19, SSBP2, ST8SIA4, STARD4, STC2, STING1, STK10, STK32A, SUB1, SV2C, SYNPO, TAF7, TAF9, TARS1, TAS2R1, TBC1D9B, TBCA, TCERG1, TCF7, TCOF1, TENM2, TENT2, TENT4A, TERT, TEX43, TGFBI, THBS4, THG1L, THOC3, TICAM2, TIFAB, TIGD6, TIMD4, TLX3, TMCO6, TMED7, TMED7-TICAM2, TMED9, TMEM161B, TMEM167A, TMEM171, TMEM174, TMEM232, TMEM267, TNFAIP8, TNIP1, TNPO1, TPPP, TRAPPC13, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRIP13, TRK-CTT2-3, TRP-TGG3-1, TRPC7, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSLP, TSPAN17, TSSK1B, TTC1, TTC23L, TTC33, TTC37, TXNDC15, UBE2B, UBE2D2, UBE2QL1, UBLCP1, UBTD2, UGT3A1, UGT3A2, UIMC1, UNC5A, UQCRQ, UTP15, VCAN, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR41, WDR55, WDR70, WNT8A, WWC1, XRCC4, YIPF5, YTHDC2, ZBED3, ZBED8, ZCCHC10, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608, ZNF622, ZNF879, ZSWIM6, ABLIM3, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADAMTS6, ADCY2, ADGRV1, ADRA1B, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, AHRR, ALDH7A1, AMACR, ANKDD1B, ANKH, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF28
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000441919
22.
GRCh37:
Chr5:174427052-180719789
See casesPathogenicno assertion criteria providedVCV000397404
23.
GRCh37:
Chr5:178228725-180678091
See casesPathogenicno assertion criteria providedVCV000397129
24.
GRCh37:
Chr5:175601473-180100378
See casesPathogenicno assertion criteria providedVCV000397029
25.
GRCh37:
Chr5:176274007-180719789
See casesPathogenicno assertion criteria providedVCV000396770
26.
GRCh37:
Chr5:171396359-180719789
See casesPathogenicno assertion criteria providedVCV000396064
27.
GRCh37:
Chr5:178849756-180719789
See casesUncertain significanceno assertion criteria providedVCV000395961
28.
GRCh37:
Chr5:106716357-180687338
AFF4, ALDH7A1, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF37, ARL10, ARL14EPL, ARSI, ATG12, ATOX1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BRD8, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf15, C5orf24, C5orf46, C5orf47, C5orf52, C5orf58, C5orf60, C5orf63, CAMK2A, CAMK4, CAMLG, CANX, CATSPER3, CBY3, CCDC112, CCDC69, CCNG1, CCNI2, CCNJL, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDHR2, CDKL3, CDKN2AIPNL, CDO1, CDX1, CEP120, CHSY3, CLINT1, CLK4, CLTB, CNOT6, CNOT8, COL23A1, COMMD10, CPEB4, CPLX2, CREBRF, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTXN3, CXCL14, CXXC5, CYFIP2, CYSTM1, DBN1, DCANP1, DCP2, DCTN4, DDX41, DDX46, DELE1, DIAPH1, DMXL1, DNAJC18, DND1, DOCK2, DOK3, DPYSL3, DRD1, DTWD2, DUSP1, EBF1, ECSCR, EFCAB9, EFNA5, EGR1, EIF4E1B, EIF4EBP3, EPB41L4A, ERGIC1, ETF1, F12, FABP6, FAF2, FAM114A2, FAM13B, FAM153A, FAM153B, FAM170A, FAM193B, FAM53C, FAM71B, FAT2, FAXDC2, FBN2, FBXL17, FBXO38, FBXW11, FCHSD1, FEM1C, FER, FGF1, FGF18, FGFR4, FLT4, FNDC9, FNIP1, FOXI1, FSTL4, FTMT, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GDF9, GEMIN5, GFPT2, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPRIN1, GPX3, GRAMD2B, GRIA1, GRK6, GRM6, GRPEL2, GRXCR2, HAND1, HARS1, HARS2, HAVCR1, HAVCR2, HBEGF, HDAC3, HIGD2A, HINT1, HK3, HMGXB3, HMHB1, HMMR, HNRNPA0, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL12B, IL13, IL17B, IL3, IL4, IL5, IL9, INSYN2B, IRF1, IRGM, ISOC1, ITK, JADE2, JAKMIP2, KCNIP1, KCNMB1, KCNN2, KCTD16, KDM3B, KIAA1191, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LCP2, LEAP2, LECT2, LMAN2, LMNB1, LOC100128059, LOC100288254, LOX, LRRTM2, LSM11, LTC4S, LVRN, LYRM7, MACROH2A1, MAML1, MAN2A1, MAPK9, MARCHF3, MAT2B, MATR3, MCC, MED7, MEGF10, MFAP3, MGAT1, MGAT4B, MINAR2, MIR103A1, MIR143, MIR145, MIR146A, MIR378A, MRNIP, MRPL22, MSX2, MXD3, MYOT, MYOZ3, MZB1, N4BP3, NDFIP1, NDST1, NDUFA2, NEURL1B, NEUROG1, NHP2, NIPAL4, NKX2-5, NME5, NMUR2, NOP16, NPM1, NR3C1, NREP, NRG2, NSD1, NUDCD2, OR2V1, OR2V2, OR2Y1, P4HA2, PAIP2, PANK3, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PDLIM7, PFDN1, PFN3, PGGT1B, PHAX, PHYKPL, PITX1, PJA2, PKD2L2, PLAC8L1, POU4F3, PPARGC1B, PPIC, PPP2CA, PPP2R2B, PRDM6, PRELID1, PRELID2, PROB1, PROP1, PRR16, PRR7, PRRC1, PSD2, PTTG1, PURA, PWWP2A, RAB24, RACK1, RAD50, RANBP17, RAPGEF6, RARS1, RASGEF1C, RBM22, RBM27, REEP2, REEP5, RELL2, RGS14, RMND5B, RNF130, RNF14, RNF145, RNF44, RPL26L1, RPS14, RUFY1, SAP30L, SAR1B, SCGB3A1, SCGB3A2, SEC24A, SEMA6A, SEPTIN8, SFXN1, SGCD, SH3PXD2B, SH3RF2, SH3TC2, SHROOM1, SIL1, SIMC1, SKP1, SLC12A2, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC34A1, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SLIT3, SLU7, SMAD5, SMIM23, SMIM3, SNCAIP, SNCB, SNHG4, SNORA74B, SNX2, SNX24, SOWAHA, SOX30, SPARC, SPATA24, SPDL1, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SQSTM1, SRA1, SRFBP1, SRP19, STARD4, STC2, STING1, STK10, STK32A, SYNPO, TAF7, TBC1D9B, TCERG1, TCF7, TCOF1, TENM2, TEX43, TGFBI, THG1L, THOC3, TICAM2, TIFAB, TIGD6, TIMD4, TLX3, TMCO6, TMED7, TMED7-TICAM2, TMED9, TMEM232, TNFAIP8, TNIP1, TRIM36, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRPC7, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSLP, TSPAN17, TSSK1B, TTC1, TXNDC15, UBE2B, UBE2D2, UBLCP1, UBTD2, UIMC1, UNC5A, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, WWC1, YIPF5, YTHDC2, ZBED8, ZCCHC10, ZFP2, ZFP62, ZMAT2, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF474, ZNF608, ZNF879, ABLIM3, ACSL6, ADAM19, ADAMTS19, ADAMTS2, ADRA1B, ADRB2, AFAP1L1
See casesPathogenicno assertion criteria providedVCV000394550
29.
GRCh37:
Chr5:174397487-180686444
See casesPathogenic
(Jan 17, 2014)
criteria provided, single submitterVCV000187821
30.
GRCh37:
Chr5:176127129-180696806
GRCh38:
Chr5:176700128-181269805
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154581
31.
GRCh37:
Chr5:177662910-180719789
GRCh38:
Chr5:178235909-181292788