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Items: 20

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:10192850-10469516
HPCAL1, RRM2, KLF11, CYS1, C2orf48not providedBenign
(Sep 16, 2016)
no assertion criteria providedVCV000616207
2.
GRCh37:
Chr2:15672-243101834
MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDCD1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCHF4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCHF7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, SLC66A3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, RTP5, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, FAM166C, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, MSH2-OT1, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570, AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS1, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000616168
3.
GRCh37:
Chr2:14238-243048760
AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS1, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDCD1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCHF4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCHF7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, SLC66A3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, RTP5, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, FAM166C, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, MSH2-OT1, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000616166
4.
GRCh37:
Chr2:10192688-10462223
HPCAL1, RRM2, KLF11, CYS1, C2orf48not providedUncertain significance
(Aug 29, 2017)
no assertion criteria providedVCV000562559
5.
GRCh37:
Chr2:12770-20081474
See casesPathogenic
(Aug 15, 2014)
no assertion criteria providedVCV000443675
6.
GRCh37:
Chr2:12771-242783384
ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCHF4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCHF7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, SLC66A3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, FAM166C, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, MSH2-OT1, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570, AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2, ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS1, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000442998
7.
GRCh37:
Chr2:12771-242783384
ADRA2B, AGXT, ALK, ALPI, ALPP, ALPG, BIN1, ANXA4, AOX1, APOB, RHOB, RND3, ATIC, ATP5MC3, ATP6V1B1, KIF1A, AUP1, BARD1, BCS1L, BCYRN1, BMPR2, BOK, ZFP36L2, BUB1, CACNB4, CAD, CALM2, CAPG, CASP8, CASP10, CCNT2, CD8A, CD8B, CD28, CENPA, CHN1, CHRNA1, CHRND, CHRNG, CLK1, CNGA3, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COX5B, CPS1, CREB1, ATF2, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CTNNA2, CYP1B1, CYP27A1, DARS1, DBI, DCTN1, DDX1, DES, DGUOK, DLX1, DLX2, DNAH6, DYNC1I2, DNMT3A, DOK1, DPP4, DTNB, DTYMK, DUSP2, E2F6, EEF1B2, EGR4, EMX1, EN1, EPAS1, EPHA4, ERBB4, ERCC3, FABP1, ACSL3, FAP, EFEMP1, FHL2, FKBP1B, FN1, FOSL2, FRZB, FSHR, GAD1, GALNT3, GBX2, GCG, GCKR, MSTN, GFPT1, GGCX, GLI2, GLS, GPC1, GPD2, GPR1, GPR17, GPR35, GPR39, GRB14, MSH6, GTF3C2, GYPC, HADHA, HADHB, HDLBP, HK2, HNMT, TLX2, HOXD1, HOXD3, HOXD4, HOXD8, HOXD9, HOXD10, HOXD11, HOXD12, HOXD13, HPCAL1, AGFG1, DNAJB2, HSPD1, HSPE1, FOXN2, HTR2B, ID2, IDH1, SP110, IGFBP2, IGFBP5, IGKC, IHH, IL1A, IL1B, IL1R1, IL1RN, CXCR1, CXCR2, INHA, INHBB, INPP1, INPP4A, ITGA6, IRS1, ITGA4, ITGAV, ITGB6, KCNF1, KCNJ3, KCNJ13, KCNK3, KCNS3, KHK, KIF3C, AFF3, LCT, LHCGR, LIMS1, LRP2, LTBP1, LY75, EPCAM, MXD1, MAL, MAP2, MAT2A, MATN3, MCM6, MDH1, MEIS1, MGAT5, MPV17, MYO1B, MSH2, MTIF2, MYCN, MYL1, MYO7B, NAB1, NCL, NEB, NDUFA10, NDUFB3, NDUFS1, SEPTIN2, NEU2, NEUROD1, NFE2L2, NPAS2, NPHP1, NPPC, NR4A2, ODC1, ORC2, ORC4, OTX1, REG3A, PAX3, PCBP1, PDE1A, PDE6D, PDK1, PEX13, VIT, SERPINE2, PIGF, PLCL1, PLEK, PLGLB1, PMS1, POLR2D, POMC, POU3F3, PPM1B, PPM1G, PPP1CB, PPP1R7, PPP3R1, PRKCE, EIF2AK2, PROC, PSMD1, PTH2R, PTMA, PTPN4, PTPRN, RAB1A, RALB, RANBP2, RBMS1, REL, REG1A, REG1B, SNORD20, RPE, RPL31, RPL37A, RPS7, RPS27A, RRM2, RTKN, SAG, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCTR, CCL20, SDC1, SRSF7, SFTPB, SIX3, SLC4A3, SLC1A4, SLC3A1, SLC8A1, SLC9A2, SLC11A1, SLC20A1, SNRPG, SOS1, SOX11, SP3, SP100, SPAST, SPP2, SPR, SPTBN1, SRD5A2, SSB, ITPRID2, STAT1, STAT4, STRN, SULT1C2, ADAM17, TACR1, GCFC2, TFPI, TGFA, TIA1, TNFAIP6, TNP1, TNS1, TPO, TSN, EIPR1, TTN, TUBA4A, SUMO1, UCN, UGP2, VIL1, VRK2, VSNL1, WIPF1, WNT6, XDH, XPO1, XRCC5, ZAP70, ZNF2, ZNF142, SLC30A3, PXDN, ALMS1, MOGS, RNF103, PAX8, IL1R2, MALL, CXCR4, FZD5, SCG2, DYSF, FZD7, CAVIN2, NCK2, DUSP11, CUL3, KLF11, MAP4K3, PKP4, HAT1, DGKD, AGPS, PRKRA, STK16, SLC25A12, KLF7, ABCB11, NCOA1, VAMP8, MARCO, B3GALT1, ADAM23, SUCLG1, IL18RAP, IL1RL2, IL18R1, NRP2, CFLAR, ASAP2, PER2, ST3GAL5, SLC5A6, DDX18, EIF2B4, CDK5R2, KYNU, TAF1B, NAT8, NMI, CNOT9, COX7A2L, TMSB10, IL1RL1, LRRFIP1, STK17B, ITGB1BP1, GPR55, TRIP12, GTF3C3, PPIG, NRXN1, OTOF, CIAO1, TGFBRAP1, HS6ST1, CRIPT, ECEL1, MAP4K4, EIF2AK3, EIF4E2, ROCK2, CHST10, TP53I3, CIR1, MRPL33, BABAM2, PREPL, CYTIP, FEZ2, GCC2, TTLL4, SOCS5, EIF5B, GREB1, BZW1, USP34, LAPTM4A, HDAC4, RNF144A, SNX17, SERTAD2, MRPL19, ZEB2, FARP2, TLK1, SUPT7L, CD302, ARHGAP25, TANK, BCL2L11, FARSB, ABCB6, ACTR3, ACTR2, ARPC2, PREB, ACTR1B, ARL4C, LRPPRC, PDIA6, ABI2, CEBPZ, DHRS9, TXNDC9, MPHOSPH10, CALCRL, PSMD14, STAM2, RAMP1, SPEG, LANCL1, NMUR1, SMYD5, KLHL41, MYCNOS, C1D, MERTK, UBE2E3, STK25, SEMA4F, CCT7, CCT4, GNLY, CDC42EP3, STAMBP, TGOLN2, MTX2, CGREF1, B3GNT2, USP39, TBR1, SIX2, MAP3K2, NCKAP1, VAMP5, MTHFD2, ARID5A, PROKR1, RAB10, EDAR, COPS8, GPR75, YWHAQ, IMMT, SNRNP27, GTF2A1L, STON1, RAPGEF4, EMILIN1, CAPN10, TBC1D8, RABL2A, GALNT5, NXPH2, GPR45, SP140, MGAT4A, GPN1, IKZF2, COBLL1, AAK1, FASTKD2, MAPRE3, PLA2R1, RAB3GAP1, RPIA, SLC4A1AP, EFR3B, SNRNP200, MYT1L, WDR43, LPIN1, CEP68, PASK, UBXN4, ATG4B, PSME4, EXOC6B, EHBP1, SATB2, CLASP1, OBSL1, PUM2, NCAPH, RHOQ, SF3B1, HAAO, TMEM131, R3HDM1, DNPEP, PSD4, WBP1, NTSR2, TMEFF2, SH3BP4, PRKD3, KCNE4, RASGRP3, NGEF, QPCT, GCA, VAX2, SNORD82, MOB4, POLR1A, CNRIP1, FAM98A, PNKD, UNC50, SNED1, GORASP2, SPATS2L, RAB11FIP5, GIGYF2, EPC2, TRAF3IP1, ABCA12, IFT172, ARL5A, HIBCH, PTPN18, CNNM4, CNNM3, IL36RN, SH3YL1, CNPPD1, STK36, IL36B, IL37, IL36A, SULT1C4, NFU1, ERLEC1, MMADHC, BMP10, ZNF638, STK39, HTRA2, EML4, TRIB2, METTL5, LGALSL, OLA1, C2orf27A, GRHL1, TFCP2L1, ICOS, GMPPA, NRBP1, BAZ2B, SLC40A1, KCNIP3, EHD3, SMARCAL1, CD207, ITSN2, ANO7, ARHGEF4, PDE11A, TPRKB, FAHD2A, PRLH, WDPCP, MEMO1, THAP4, TRAPPC12, ASB3, INSIG2, CRIM1, ANKRD39, FAM178B, RNF181, MRPL30, DNAJC27, ANKMY1, KRCC1, MRPL35, ATRAID, PCYOX1, GULP1, REV1, NAT8B, SCLY, VPS54, NBAS, LIPT1, NOP58, DYNC2LI1, SF3B6, YPEL5, CHMP3, FKBP7, ASB1, CPSF3, CAB39, MAP3K20, BCL11A, LRP1B, PRKAG3, PPIL3, SNTG2, DNAJC10, ATAD2B, ETAA1, HEATR5B, CCDC93, ASNSD1, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3, FEV, AFTPH, MFSD6, TMEM214, RETSAT, INO80D, SEMA4C, SLC35F6, C2orf42, TRMT61B, PID1, PTCD3, PLEKHB2, ATG16L1, FANCL, SRBD1, FIGN, ANKZF1, RIF1, USP40, MOB1A, STEAP3, ASXL2, ADI1, THNSL2, ACOXL, WDR33, HJURP, STRADB, NDUFAF7, HES6, ASIC4, CNOT11, NAGK, DOCK10, TTC27, SMPD4, TMEM127, PRPF40A, SLC30A6, IWS1, LIMS2, KANSL3, MREG, CCDC88A, WDR12, MBD5, KDM3A, ALLC, PECR, ARHGAP15, ZC3H15, CFC1, DNAH7, GKN1, IL36G, RPRM, CYP26B1, POLE4, KCNK12, UGGT1, KCMF1, DPYSL5, PNO1, STARD7, C2orf83, MFF, ACKR3, RNPEPL1, RTN4, TRIM54, PELI1, SLC39A10, TTC7A, PPP4R3B, SLC4A10, CYP20A1, SPC25, BIRC6, ERMN, KIDINS220, MTA3, HECW2, WDR35, MARCHF4, WDFY1, NYAP2, DPP10, RDH14, EPB41L5, ALS2, ZDBF2, USP37, CWC22, ANKRD36B, G6PC2, SLC4A5, CTDSP1, NLRC4, MPP4, SLC5A7, NIF3L1, AGBL5, LDAH, THADA, PCGEM1, RBKS, GAL3ST2, TMBIM1, IFIH1, OSGEPL1, ATL2, ABCG5, ABCG8, RAB17, RNF25, HS1BP3, GMCL1, TTC31, ANAPC1, COPS7B, RMND5A, FNDC4, MARCHF7, NABP1, PAPOLG, MRPS9, MRPS5, REEP1, RAPH1, CDK15, TMEM237, NBEAL1, MRPL44, SOWAHC, PLEKHA3, TRAK2, BOLL, COLEC11, PDCL3, TRPM8, ATG9A, C2orf49, MLPH, TMEM185B, RETREG2, CENPO, GLB1L, MAIP1, SPAG16, CHPF, SAP130, GALNT14, SCRN3, CCDC121, FASTKD1, SMC6, GTDC1, CLIP4, IQCA1, CARF, TTC21B, CAMKMT, METTL8, GEMIN6, NHEJ1, FAM124B, TM4SF20, CYBRD1, MAB21L4, NOL10, ANKRD53, CSRNP3, PGAP1, LRRTM4, DCAF17, MZT2B, MAP3K19, UXS1, FBXO11, ARMC9, COQ10B, SLC35F5, EFHD1, WDCP, SPHKAP, WNT10A, SLC19A3, TSGA10, THSD7B, THUMPD2, TMEM177, LNPK, ILKAP, FAM49A, LMAN2L, LBH, TMEM163, ITM2C, TCF7L1, INO80B, AMMECR1L, CDCA7, WDR54, ZRANB3, RAB6C, WDR75, FAM161A, EVA1A, ANTXR1, POLR1B, ELMOD3, RGPD5, C2orf16, RHBDD1, CHCHD5, YIPF4, PRADC1, C2orf88, ING5, CCDC115, NIFK, ECRG4, ZNF512, ZC3H8, KIAA1841, ST6GAL2, IL1F10, DPY30, MCEE, LOXL3, ABHD1, PCGF1, MFSD9, PLCD4, SFT2D3, CCDC142, ZNF514, FAM136A, TMEM87B, ATOH8, TANC1, SELENOI, LBX2, PNPT1, KCNH7, FER1L5, MCFD2, ATP6V1E2, CCDC74A, DHX57, SESTD1, CCDC74B, PKDCC, ANKRD44, RSAD2, ZNF804A, TTC30A, DAPL1, CAPN13, TMEM169, DNER, DRC1, IMP4, HNRNPLL, MARS2, B3GNT7, NT5C1B, SP140L, SFXN5, ORMDL1, LIMS3, TUBA3E, CFAP36, TEX261, TUBA3D, STK11IP, FMNL2, CCDC85A, GALNT13, KLHL29, OSBPL6, NOSTRIN, DIRC1, WDR92, MOGAT1, LYPD1, MRPL53, AGAP1, TWIST2, PARD3B, PPP1R21, TRABD2A, TMEM150A, NUP35, XIRP2, TYW5, NMS, LYG1, MITD1, DIS3L2, CMPK2, MBOAT2, CNTNAP5, TMEM18, FBLN7, NEU4, RBM45, C2orf73, TRIM43, BBS5, CCDC173, ACMSD, ICA1L, FAM168B, CIB4, REG3G, RFTN2, CLHC1, PLEKHH2, AP1S3, C2orf76, SGPP2, ACVR1C, OSR1, TTC32, UBR3, KCTD18, FLACC1, ZNF513, SPATA3, LYPD6, LYPD6B, GALM, TMEM198, ZFAND2B, TMEM178A, CPO, MDH1B, C2orf50, SLC66A3, TMEM182, FBXO36, MTERF4, CCDC148, M1AP, MYO3B, TMEM37, UBE2F, DUSP19, TTL, CKAP2L, CBWD2, TEKT4, SMYD1, C2orf15, OTOS, COPS9, OR6B3, COMMD1, PROM2, ANKAR, FBXO41, TTC30B, GPAT2, ITPRIPL1, FAM117B, TCF23, GAREM2, PUS10, SEPTIN10, KANSL1L, PLB1, ZSWIM2, ZNF385B, ERFE, ARL6IP6, METTL21A, CCNYL1, KLHL23, PPP1R1C, SGO2, C2CD6, SLC38A11, CCDC140, SLC23A3, GPBAR1, FAHD2B, LRATD1, RMDN2, GDF7, SLC16A14, ASPRV1, WDSUB1, UPP2, GPR155, DAW1, LONRF2, CCDC138, ADGRF3, TEX44, OXER1, TOGARAM2, FAM171B, C1QL2, UBXN2A, CLEC4F, DQX1, KCNG3, CYS1, FOXD4L1, VWA3B, CREG2, TET3, GKN2, TEX37, ANKRD23, APLF, PIKFYVE, KRTCAP3, TMEM17, SPRED2, TIGD1, AMER3, C2orf69, HNRNPA3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, CERS6, METAP1D, LYG2, CFAP65, C2orf72, SH2D6, NT5DC4, CCDC150, RNF149, ALKAL2, CCDC141, STPG4, DNAJC5G, ERICH2, IAH1, FAM126B, UNC80, RUFY4, RGPD4, DUSP28, STON1-GTF2A1L, SPOPL, CYP27C1, MROH2A, ESPNL, FAM166C, PRR30, C2orf74, MSGN1, KIAA1211L, FIGLA, NOTO, NCKAP5, FOXI3, EVX2, CDKL4, GPR148, LRRTM1, GEN1, C2orf48, FTCDNL1, PFN4, FAM228B, ANKRD36, RBM43, CERKL, CATIP, RBM44, AQP12A, ZC3H6, KLHL30, MFSD2B, PCARE, TMEM247, TSPYL6, C2orf78, BOLA3, C2orf81, C2orf68, SLC9A4, SP5, PLEKHM3, C2orf80, RESP18, SNORC, OR6B2, PTRHD1, SULT6B1, DYTN, C2orf91, EML6, PAIP2B, RGPD1, ANKRD36C, FSIP2, C2orf66, ASB18, VWC2L, MIR10B, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, C2orf27B, DNAJB3, ASTL, CAPN14, SULT1C3, POTEE, COA5, PHOSPHO2, CHAC2, MIR375, PJVK, FBXO48, FAM110C, PRR21, MSH2-OT1, ZNF806, PRSS56, FAM228A, TRIM43B, POTEI, CFC1B, AQP12B, RGPD3, POTEJ, MZT2A, RGPD8, D2HGDH, POTEF, DCDC2C, LINC01873, RAD51AP2, RGPD6, DIRC3, RGPD2, MORN2, RFX8, LOC100128563, OST4, TDRD15, NEMP2, SP9, RNU4ATAC, ARHGEF33, LIMS4, MIR1258, GPR75-ASB3, SOS1-IT1, LY75-CD302, RNF103-CHMP3, NT5C1B-RDH14, LINC00570, AAMP, ACADL, ACP1, ACTG2, ACVR1, ACVR2A, ACYP2, ADCY3, ADD2
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000442997
8.
GRCh37:
Chr2:236816-46210371
GRCh38:
Chr2:236816-45983232
ACP1, ADCY3, ALK, APOB, RHOB, ZFP36L2, CAD, CENPA, CYP1B1, DDX1, DNMT3A, DTNB, E2F6, FKBP1B, FOSL2, GCKR, GTF3C2, HADHA, HADHB, HPCAL1, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LTBP1, MATN3, MPV17, PPP1CB, MYCN, ODC1, VIT, POMC, PPM1B, PPM1G, PRKCE, EIF2AK2, RPS7, RRM2, SDC1, SRSF7, SIX3, SLC3A1, SLC8A1, SOS1, SOX11, SPAST, SRD5A2, STRN, ADAM17, TPO, EIPR1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, MAP4K3, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, COX7A2L, ITGB1BP1, OTOF, ROCK2, TP53I3, MRPL33, BABAM2, PREPL, FEZ2, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, LRPPRC, PDIA6, CEBPZ, MYCNOS, CDC42EP3, CGREF1, SIX2, RAB10, YWHAQ, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PUM2, HAAO, NTSR2, PRKD3, RASGRP3, QPCT, FAM98A, IFT172, SH3YL1, SNORD53, EML4, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, CRIM1, DNAJC27, ATRAID, NBAS, DYNC2LI1, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, HEATR5B, TMEM214, SLC35F6, TRMT61B, SRBD1, ASXL2, ADI1, NDUFAF7, TTC27, SLC30A6, ALLC, DPYSL5, TRIM54, BIRC6, KIDINS220, MTA3, WDR35, RDH14, NLRC4, AGBL5, LDAH, THADA, RBKS, ATL2, ABCG5, ABCG8, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, CAMKMT, GEMIN6, NOL10, WDCP, THUMPD2, FAM49A, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, SELENOI, DHX57, PKDCC, RSAD2, CAPN13, DRC1, HNRNPLL, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, CIB4, PLEKHH2, OSR1, TTC32, ZNF513, GALM, TMEM178A, C2orf50, SLC66A3, SILC1, TCF23, GAREM2, PLB1, LRATD1, RMDN2, GDF7, ADGRF3, OXER1, TOGARAM2, UBXN2A, KCNG3, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, GPATCH11, ALKAL2, LINC01936, LINC00486, DNAJC5G, IAH1, FLJ33534, CYP1B1-AS1, FAM166C, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, CDKL4, GEN1, C2orf48, PFN4, FAM228B, LOC375196, RNF144A-AS1, MFSD2B, PCARE, LINC01913, PTRHD1, SULT6B1, LOC400940, LINC00487, LINC01376, LINC00954, C2orf91, LINC01121, FLJ31356, CAPN14, LINC01822, FAM228A, LOC653602, SNORD92, MIR558, LINC01874, LINC01249, DCDC2C, MAP4K3-DT, C1GALT1C1L, RAD51AP2, DNAJC27-AS1, MORN2, MYT1L-AS1, TRA-AGC8-1, SLC8A1-AS1, OST4, TDRD15, MAPRE3-AS1, LINC01126, LINC01460, TRY-GTA2-1, TRI-TAT2-1, ARHGEF33, LOC100271832, CRIM1-DT, MIR1301, BABAM2-AS1, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, CEBPZOS, SOS1-IT1, LINC01304, LINC02580, RNASEH1-AS1, SIX3-AS1, LOC100506274, ID2-AS1, MIR3681HG, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4429, MIR548AD, AGBL5-AS1, LINC00570, HS1BP3-IT1, LINC01883, LINC01939, SNTG2-AS1, RMDN2-AS1, LINC01804, LINC01875, LINC01250, LOC101928222, LINC02850, DTNB-AS1, LINC01247, LOC101929452, LINC01871, LOC101929551, LINC00211, LINC01814, LINC02613, LINC01794, ODC1-DT, LINC01914, LINC01954, LOC101929882, MIR7158, MIR7515, LINC01884, LINC01248, EML4-AS1, LINC01819, MIR7515HG, LINC01246, MYCNUT, BIRC6-AS2, NRIR, LINC01317, LINC01320, GACAT3, LINC01865, LOC105373352, TMEM18-DT, LOC105373394, LINC01810, LINC01808, LAPTM4A-DT, LINC01830, LOC105374378, LOC105374389, LINC01946, LOC105374454, PRKCE-AS1, LINC01381, LINC01318, LOC106560211, APOB3'MAR, APOB-ICR, LOC106728414, LOC107457596, LOC107985837, LOC107985856, LINC01833, LOC108167315, LOC108281152, SNORA10B, SNORD53B, LOC110120598, LOC110120665, LOC110120696, LOC110121045, LOC110121085, LOC110121122, LOC110121127, LOC110121131, LOC110121222, LOC110121308, LOC110599580, LOC111465020, LOC111556161, LOC111811968, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112841600, LOC112841604, LOC112841605, LOC114004370, LOC114004371, LOC114827839
See casesPathogenic
(Nov 19, 2013)
no assertion criteria providedVCV000155615
9.
GRCh37:
Chr2:12770-25262563
GRCh38:
Chr2:12770-25039694
ACP1, ADCY3, APOB, RHOB, DDX1, E2F6, FKBP1B, HPCAL1, ID2, KCNF1, KCNS3, MATN3, MYCN, ODC1, RPS7, RRM2, SDC1, SOX11, ADAM17, TPO, EIPR1, VSNL1, PXDN, KLF11, NCOA1, ASAP2, TAF1B, ITGB1BP1, ROCK2, TP53I3, GREB1, LAPTM4A, RNF144A, PDIA6, MYCNOS, YWHAQ, MYT1L, LPIN1, PUM2, NTSR2, SH3YL1, TRIB2, GRHL1, ITSN2, TRAPPC12, DNAJC27, NBAS, SF3B6, CPSF3, SNTG2, ATAD2B, ADI1, ALLC, KIDINS220, WDR35, RDH14, LDAH, HS1BP3, COLEC11, CENPO, SMC6, NOL10, WDCP, FAM49A, RSAD2, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, OSR1, TTC32, C2orf50, SLC66A3, SILC1, LRATD1, GDF7, UBXN2A, CYS1, ATP6V1C2, RNASEH1, ALKAL2, IAH1, FLJ33534, LINC00298, LINC00299, LINC01115, MSGN1, GEN1, C2orf48, PFN4, FAM228B, RNF144A-AS1, MFSD2B, PTRHD1, LOC400940, LINC00487, LINC01376, LINC00954, FAM110C, LINC01822, FAM228A, LOC653602, LINC01874, LINC01249, DCDC2C, RAD51AP2, DNAJC27-AS1, MYT1L-AS1, TDRD15, SNORA80B, MIR548S, MIR4261, MIR3125, MIR4262, LINC00276, MIR3681, LINC01304, RNASEH1-AS1, LOC100506274, ID2-AS1, MIR3681HG, LOC100506474, NT5C1B-RDH14, MIR4757, MIR4429, LINC00570, HS1BP3-IT1, LINC01939, SNTG2-AS1, LINC01804, LINC01875, LINC01250, LOC101928222, LINC02850, LINC01247, LOC101929452, LINC01871, LOC101929551, LINC01814, ODC1-DT, LINC01954, LOC101929882, MIR7158, MIR7515, LINC01884, LINC01248, MIR7515HG, LINC01246, MYCNUT, NRIR, GACAT3, LINC01865, LOC105373352, TMEM18-DT, LOC105373394, LINC01810, LINC01808, LAPTM4A-DT, LINC01830, LOC106560211, APOB3'MAR, APOB-ICR, LOC107985837, LOC107985856, LOC110120665, LOC110121045, LOC110121085, LOC110121127, LOC110121131, LOC110121308, LOC111556161, LOC111811968, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112841600, LOC112841604, LOC112841605, LOC114004371
See casesPathogenic
(Jul 1, 2013)
no assertion criteria providedVCV000153520
10.
GRCh37:
Chr2:12770-33936576
GRCh38:
Chr2:12770-33711509
ADGRF3, TOGARAM2, UBXN2A, CYS1, KRTCAP3, SPDYA, ATP6V1C2, RNASEH1, LCLAT1, ALKAL2, LINC01936, LINC00486, DNAJC5G, IAH1, FLJ33534, FAM166C, PRR30, LINC00298, LINC00299, LINC01115, MSGN1, GEN1, C2orf48, PFN4, FAM228B, RNF144A-AS1, MFSD2B, PCARE, PTRHD1, LOC400940, LINC00487, LINC01376, LINC00954, FLJ31356, CAPN14, FAM110C, LINC01822, FAM228A, LOC653602, SNORD92, MIR558, LINC01874, LINC01249, DCDC2C, RAD51AP2, DNAJC27-AS1, MYT1L-AS1, TRA-AGC8-1, OST4, TDRD15, MAPRE3-AS1, LINC01460, TRY-GTA2-1, LOC100271832, MIR1301, BABAM2-AS1, SNORA80B, MIR548S, MIR4261, MIR4263, MIR3125, MIR4262, LINC00276, MIR3681, GTF3C2-AS1, LOC100505716, LOC100505736, LOC100505774, LINC01304, RNASEH1-AS1, LOC100506274, ID2-AS1, MIR3681HG, LOC100506474, NT5C1B-RDH14, MIR4430, MIR4765, MIR4757, MIR4429, AGBL5-AS1, LINC00570, HS1BP3-IT1, LINC01939, SNTG2-AS1, LINC01804, LINC01875, LINC01250, LOC101928222, LINC02850, DTNB-AS1, LINC01247, LOC101929452, LINC01871, LOC101929551, LINC01814, ODC1-DT, LINC01954, LOC101929882, MIR7158, MIR7515, LINC01884, LINC01248, MIR7515HG, LINC01246, MYCNUT, BIRC6-AS2, NRIR, LINC01317, GACAT3, LINC01865, LOC105373352, TMEM18-DT, LOC105373394, LINC01810, LINC01808, LAPTM4A-DT, LINC01830, LOC105374378, LOC105374389, LINC01946, LOC105374454, LINC01381, LOC106560211, APOB3'MAR, APOB-ICR, LOC106728414, LOC107985837, LOC107985856, LOC108167315, LOC108281152, SNORA10B, SNORD53B, LOC110120665, LOC110121045, LOC110121085, LOC110121127, LOC110121131, LOC110121308, LOC111556161, LOC111811968, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112841600, LOC112841604, LOC112841605, LOC114004370, LOC114004371, ACP1, ADCY3, ALK, APOB, RHOB, CAD, CENPA, DDX1, DNMT3A, DTNB, E2F6, FKBP1B, FOSL2, GCKR, GTF3C2, HADHA, HADHB, HPCAL1, ID2, KCNF1, KCNK3, KCNS3, KHK, KIF3C, LTBP1, MATN3, MPV17, RRM2, MYCN, ODC1, POMC, PPM1G, PPP1CB, RPS7, SDC1, SOX11, SPAST, SRD5A2, ADAM17, TPO, EIPR1, UCN, VSNL1, XDH, SLC30A3, PXDN, KLF11, NCOA1, ASAP2, SLC5A6, EIF2B4, TAF1B, ITGB1BP1, OTOF, ROCK2, TP53I3, MRPL33, BABAM2, GREB1, LAPTM4A, RNF144A, SNX17, SUPT7L, PREB, PDIA6, MYCNOS, CGREF1, RAB10, YWHAQ, EMILIN1, GPN1, MAPRE3, SLC4A1AP, EFR3B, MYT1L, WDR43, LPIN1, PUM2, NTSR2, RASGRP3, FAM98A, IFT172, SH3YL1, SNORD53, TRIB2, GRHL1, NRBP1, EHD3, ITSN2, MEMO1, TRAPPC12, DNAJC27, ATRAID, NBAS, SF3B6, YPEL5, CPSF3, SNTG2, ATAD2B, TMEM214, SLC35F6, TRMT61B, ASXL2, ADI1, TTC27, SLC30A6, ALLC, DPYSL5, TRIM54, BIRC6, KIDINS220, WDR35, RDH14, NLRC4, AGBL5, LDAH, RBKS, HS1BP3, FNDC4, COLEC11, CENPO, GALNT14, CCDC121, SMC6, CLIP4, NOL10, WDCP, FAM49A, LBH, C2orf16, YIPF4, ZNF512, DPY30, ABHD1, SELENOI, RSAD2, CAPN13, DRC1, NT5C1B, KLHL29, CMPK2, MBOAT2, TMEM18, CIB4, OSR1, TTC32, ZNF513, C2orf50, SLC66A3, SILC1, TCF23, GAREM2, PLB1, LRATD1, GDF7
See casesPathogenic
(Jun 18, 2013)
no assertion criteria providedVCV000153441
11.
GRCh37:
Chr2:7635254-88005418
GRCh38:
Chr2:7495123-87705899