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VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:128200720
GRCh38:
Chr3:128481877
GATA2Lymphedema, primary, with myelodysplasiaLikely pathogenic
(Nov 7, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr3:61495-197838262
AADAC, ACAA1, ACPP, ACTL6A, ACVR2B, ACY1, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, AMT, APEH, APOD, ARF4, RHOA, ATP1B3, ATP2B2, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, BTD, CACNA1D, SLC25A20, CAMP, CASR, CAV3, CBLB, CCK, CD80, CD86, ENTPD3, CD47, CDC25A, CISH, AP2M1, CLCN2, CCR1, CCR3, CCR4, CCR5, CCR8, ACKR2, COL7A1, COL8A1, CP, CPA3, CPB1, CPN2, CPOX, CRYGS, CSTA, CTNNB1, CX3CR1, CYP8B1, DAG1, DGKG, DAZL, DLG1, DNASE1L3, DOCK3, DRD3, DUSP7, DVL3, ECT2, CELSR3, EHHADH, EIF4A2, EIF4G1, EPHA3, EPHB1, EPHB3, ETV5, MECOM, FANCD2, FBLN2, FGF12, FHIT, FLNB, GAP43, GATA2, GBE1, GHSR, GLB1, GNAI2, GNAT1, GOLGA4, GOLGB1, GP5, GP9, XCR1, GPR15, GPR27, GPX1, GRM2, GRM7, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRH1, HRG, HES1, HTR1F, HYAL1, IL1RAP, IL5RA, IL12A, IMPDH2, IRAK2, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, KNG1, KPNA1, KPNA4, LAMB2, RPSA, LPP, LSAMP, LTF, TM4SF1, MAP4, MBNL1, MCM2, MELTF, MITF, MLF1, MLH1, MME, MOBP, CD200, MST1, MST1R, MUC4, MYD88, MYL3, MYLK, NCK1, NDUFB4, NDUFB5, NKTR, OGG1, OPA1, CLDN11, OXTR, P2RY1, PAK2, CNTN3, PCCB, PCYT1A, PDHB, PFKFB4, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLCD1, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, PLXNB1, POLR2H, POU1F1, PPARG, PPP1R2, PPP2R3A, PRKAR2A, PRKCD, PRKCI, PROS1, MASP1, PSMD2, PTH1R, PTPRG, PTX3, QARS, RAB5A, RAF1, RAP2B, RARB, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, SNORA62, ROBO1, ROBO2, RPL15, RPL24, RPL29, RPL32, RPL35A, RPN1, RYK, SATB1, ATXN7, SCN5A, SCN10A, SEC13, SEMA3F, SETMAR, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC6A1, SLC6A6, SLC6A11, SLC15A2, SLCO2A1, HLTF, SMARCC1, SOX2, SSR3, SST, STAC, NEK4, SYN2, TCTA, TDGF1, TERC, TF, TFDP2, TFRC, TGM4, TGFBR2, THPO, THRB, TIMP4, TKT, SEC62, TM4SF4, TMF1, CLEC3B, TNNC1, TOP2B, NR2C2, TRH, TRPC1, UBA7, UBE2E1, UBE2E2, UBP1, UPK1B, UMPS, USP4, UQCRC1, CLRN1, VHL, VIPR1, WNT5A, WNT7A, XPC, ZIC1, CNBP, ZNF35, ZNF80, ZNF148, BRPF1, IFRD2, MAPKAPK3, SEMA3B, SLMAP, MANF, RAB7A, KCNAB1, FXR1, COLQ, ACOX2, BAP1, EOMES, HYAL3, SOX14, BFSP2, CAMK1, CGGBP1, BHLHE40, RUVBL1, CADPS, TP63, CHRD, HYAL2, B4GALT4, B3GALNT1, SNX4, TNFSF10, SUCLG2, HESX1, GMPS, KAT2B, NR1I2, EIF2B5, BSN, MBD4, H1FX, USP13, LIMD1, KALRN, CCRL2, UBA3, RPL14, CLDN1, SEC22C, RRP9, MAP3K13, SLC33A1, LRRFIP2, MAGI1, CACNA2D2, COPB2, ADIPOQ, SLC22A14, SLC22A13, CHST2, SH3BP5, SLC4A7, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, VGLL4, EDEM1, RUBCN, ECE2, DCAF1, TBC1D5, TATDN2, IP6K1, TSC22D2, EPM2AIP1, PSMD6, TOMM70, TRANK1, SRGAP3, IQSEC1, P2RY14, DLEC1, EXOG, XYLB, OXSR1, NR1D2, PDCD6IP, PARP3, SMC4, ABCC5, COX17, ARPC4, ZNF197, RBM6, RBM5, TNK2, ALG3, NME6, CTDSPL, CD96, KCNMB2, STAG1, EIF1B, TRAIP, TFG, ST3GAL6, ARIH2, TADA3, CRTAP, ATG7, ARL6IP5, NPRL2, IGF2BP2, CXCR6, CSPG5, CLDN16, POLQ, CHL1, ARPP21, CCR9, ALDH1L1, USP19, PDIA5, SLC38A3, CYB561D2, TMEM115, TOPBP1, RPP14, HHLA2, FSTL1, FAM107A, WDR6, RASSF1, NISCH, MRPL3, PDCD10, FILIP1L, TREX1, SCN11A, TUSC2, RNF13, MGLL, TWF2, MRAS, COPG1, SLITRK3, NLGN1, TRAK1, DHX30, SACM1L, NCBP2, SCAP, MYH15, PLCH1, EXOSC7, TMCC1, PDZRN3, TNIK, CAND2, MCF2L2, CLASP2, PLXND1, RAD54L2, FRMD4B, STAB1, GPD1L, RFTN1, ATP11B, NBEAL2, NUP210, PLCL2, ANKRD28, TASOR, KLHL18, DNAJC13, U2SURP, VPS8, LARS2, RYBP, LINC01565, CAPN7, ACAP2, MKRN2, NAA80, FBXL2, ANAPC13, ARMC8, ABHD14A, NEPRO, POC1A, ABI3BP, CNOT10, TMEM158, NDUFAF3, THUMPD3, MYRIP, PTPN23, WWTR1, NECTIN3, TIPARP, CHMP2B, DNAH1, HIGD1A, LRIG1, SUSD5, UBXN7, ERC2, APPL1, HACL1, ARHGEF26, ZBTB20, TTLL3, OR5K1, OR5H1, GNL3, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, FOXP1, KCNMB3, ZBTB11, MORC1, SERP1, CNTN6, LSM3, RBMS3, GOLIM4, NKIRAS1, SPCS1, ACAD9, ASTE1, KLF15, SETD2, GTPBP8, TAGLN3, PRSS50, RBM15B, GPR171, GMPPB, SEC61A1, LINC00312, SCHIP1, LMCD1, PIK3R4, PODXL2, ARHGEF3, TRAT1, VILL, IMPG2, SSUH2, NMD3, TRNT1, ABHD5, COMMD2, DYNC1LI1, A4GNT, C3orf18, DBR1, CRBN, SS18L2, ZNF639, CLDN18, CCDC174, SHISA5, TIMMDC1, ZDHHC3, RSRC1, ZMYND10, PLA1A, TEX264, TMA7, ZNF589, HEMK1, AMOTL2, IP6K2, SFMBT1, NCKIPSD, PHF7, ACKR4, PEX5L, RAB6B, SELENOT, FBXO40, DNAJB11, GHRL, P2RY13, IL20RB, GPR87, TLR9, DCUN1D1, SEMA5B, XRN1, WDR5B, LZTFL1, PARP14, P4HTM, SLC6A20, IL17RD, GRAMD1C, ROPN1, KLHL24, SIDT1, ELP6, SNRK, QRICH1, PXK, CMTM6, TRMT10C, SLC41A3, PIGX, SLC25A38, ULK4, OXSM, SLC35A5, TMEM45A, FEZF2, IFT57, EBLN2, ANO10, DALRD3, SHQ1, MSL2, TBCCD1, FAIM, SLC25A36, PBRM1, ARL8B, SETD5, DPPA4, P3H2, TMEM39A, ZNF654, TMEM40, ABCF3, LSG1, ABHD10, CHDH, PARL, IL17RB, CDV3, MFN1, YEATS2, IFT122, NGLY1, TBC1D23, CFAP44, CACNA2D3, DCP1A, GLT8D1, EMC3, EAF2, BRK1, ZKSCAN7, MYNN, LMOD3, EIF5A2, CLDND1, MUC13, SUCNR1, RAD18, SEMA3G, MCCC1, LXN, HMCES, MRPS22, NIT2, POGLUT1, BBX, KIF15, ADAMTS9, CCNL1, PLSCR2, PCBP4, PLSCR4, PCNP, PLAAT1, MRPL47, SENP7, ABHD6, LRTM1, C3orf14, KIAA1143, ISY1, HHATL, HEG1, KIAA1257, ARHGAP31, NCEH1, IFT80, CCDC191, WDR48, LRRN1, CIP2A, SLC7A14, SRPRB, SELENOK, SENP2, GNB4, PROK2, EEFSEC, RNF123, NSUN3, CIDEC, CLSTN2, POPDC2, RTP4, MAGEF1, RBSN, KIF9, NFKBIZ, AZI2, ZMAT3, MTMR14, ATG3, MRPS25, CSRNP1, GORASP1, MFSD1, CCDC14, FNDC3B, P2RY12, CDCP1, CCDC71, NT5DC2, SLC26A6, TMEM108, CRELD1, CAMKV, TMEM43, OR5H6, OR5H2, ZXDC, ZBED2, LRRC2, FYCO1, ATP13A3, CEP97, HSPBAP1, C3orf52, VEPH1, QTRT2, CCDC51, TBL1XR1, ZBBX, ZNF385D, LRRC31, EFCC1, NEK11, UBA5, HDAC11, MAP6D1, PHC3, C3orf36, ARL14, THOC7, NAA50, PIGZ, CEP63, CEP70, ABTB1, WDR82, SLC35G2, TSEN2, GRIP2, OR5AC2, RTP3, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, C3orf20, ARL6, ZIC4, ATRIP, ACAD11, IQCG, ATP13A4, FYTTD1, NICN1, CHCHD6, MON1A, CMSS1, HPS3, ACTRT3, JAGN1, KBTBD8, SLC12A8, RETNLB, CCDC54, IL17RC, ABHD14B, LRCH3, RIOX2, ADGRG7, POMGNT2, SLC49A4, CEP19, EAF1, DCLK3, GFM1, LMLN, KLHL6, MAATS1, PHLDB2, VWA5B2, UCN2, EFCAB12, TMEM41A, ZNF502, BOC, NXPE3, RFT1, OXNAD1, SPSB4, PXYLP1, ZBTB47, TMEM44, ACTR8, CAMK2N2, CMTM7, TXNRD3, OSBPL10, OSBPL11, ZNF501, FANCD2OS, LRRC58, LRRC3B, TM4SF19, TM4SF18, RPL39L, MED12L, GALNT15, GPR62, CPNE4, CCDC58, KCNH8, DNAJC19, OTOL1, FAM3D, ZPLD1, LYZL4, KLHL40, TRIM71, FAM131A, CD200R1, CHCHD4, ZDHHC19, CRYBG3, DCBLD2, LRRC15, FAM43A, TPRA1, TMEM42, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, METTL6, TAMM41, IL17RE, RTP1, IQCF1, GLYCTK, PPM1M, SNTN, SYNPR, LSMEM2, H1FOO, ASB14, TTC14, DTX3L, TAFA4, SGO1, PP2D1, EFHB, PPM1L, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, SLC66A1L, ZCWPW2, CMC1, NEK10, C3orf79, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, TEX55, PARP15, SPTSSB, DNAJB8, GPR156, XIRP1, RNF168, CHST13, PRICKLE2, KBTBD12, DHX36, HTR3C, DZIP1L, TTC21A, ALG1L, C3orf67, KCTD6, LIPH, ARL13B, DHFR2, HTR3D, RPL22L1, SLC51A, FBXO45, KLHDC8B, MUC20, GABRR3, HACD2, STT3B, DNAH12, PDE12, DENND6A, TIGIT, DIPK2A, SENP5, USF3, NPCDR1, ZBTB38, CADM2, ZNF620, NAALADL2, ZDHHC23, TCTEX1D2, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, ALS2CL, TMIE, SLC9A9, EOGT, EPHA6, FBXW12, C3orf38, HTR3E, ZNF619, ZNF621, RABL3, C3orf56, IGSF10, C3orf33, CCDC66, SLC9C1, TCAIM, ZNF852, ZNF660, SUMF1, RPUSD3, PRRT3, DPH3, C3orf70, TPRG1, ILDR1, TRIM59, TRIM42, EIF4E3, RAB43, CCDC39, CCDC36, KY, C3orf35, GADL1, LRRIQ4, SAMD7, AADACL2, GPR149, ZNF860, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, LNP1, CFAP100, NMNAT3, ZNF445, SPATA12, LHFPL4, TOPAZ1, C3orf62, STIMATE, NRROS, AMIGO3, ZNF662, CDHR4, INKA1, IQCF2, IQCF5, MUSTN1, VGLL3, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, IQCF3, FOXL2NB, C3orf80, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIRLET7G, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, TAFA1, STX19, TMEM89, IQCF6, SMIM4, ARGFX, TMPPE, ALG1L2, TXNRD3NB, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, TMEM183B, IQCJ, SNORA81, MIR570, GXYLT2, GASK1A, CCR2, PRR23A, ESRG, EGOT, GHRLOS, TNK2-AS1, SEMA3F-AS1, ZNF717, MIR1224, FRG2C, IQCJ-SCHIP1, FGD5-AS1, KRBOX1, KRBOX1-AS1, MORC1-AS1, NECTIN3-AS1, IGSF11-AS1, FOXP1-IT1, ARPC4-TTLL3, STIMATE-MUSTN1, ISY1-RAB43
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
3.
GRCh37:
Chr3:60174-197948027
AADAC, ACAA1, ACPP, ACTL6A, ACVR2B, ACY1, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, AMT, APEH, APOD, ARF4, RHOA, ATP1B3, ATP2B2, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, BTD, CACNA1D, SLC25A20, CAMP, CASR, CAV3, CBLB, CCK, CD80, CD86, ENTPD3, CD47, CDC25A, CISH, AP2M1, CLCN2, CCR1, CCR3, CCR4, CCR5, CCR8, ACKR2, COL7A1, COL8A1, CP, CPA3, CPB1, CPN2, CPOX, CRYGS, CSTA, CTNNB1, CX3CR1, CYP8B1, DAG1, DGKG, DAZL, DLG1, DNASE1L3, DOCK3, DRD3, DUSP7, DVL3, ECT2, CELSR3, EHHADH, EIF4A2, EIF4G1, EPHA3, EPHB1, EPHB3, ETV5, MECOM, FANCD2, FBLN2, FGF12, FHIT, FLNB, GAP43, GATA2, GBE1, GHSR, GLB1, GNAI2, GNAT1, GOLGA4, GOLGB1, GP5, GP9, XCR1, GPR15, GPR27, GPX1, GRM2, GRM7, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRH1, HRG, HES1, HTR1F, HYAL1, IL1RAP, IL5RA, IL12A, IMPDH2, IRAK2, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, KNG1, KPNA1, KPNA4, LAMB2, RPSA, LPP, LSAMP, LTF, TM4SF1, MAP4, MBNL1, MCM2, MELTF, MITF, MLF1, MLH1, MME, MOBP, CD200, MST1, MST1R, MUC4, MYD88, MYL3, MYLK, NCK1, NDUFB4, NDUFB5, NKTR, OGG1, OPA1, CLDN11, OXTR, P2RY1, PAK2, CNTN3, PCCB, PCYT1A, PDHB, PFKFB4, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLCD1, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, PLXNB1, POLR2H, POU1F1, PPARG, PPP1R2, PPP2R3A, PRKAR2A, PRKCD, PRKCI, PROS1, MASP1, PSMD2, PTH1R, PTPRG, PTX3, QARS, RAB5A, RAF1, RAP2B, RARB, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, SNORA62, ROBO1, ROBO2, RPL15, RPL24, RPL29, RPL32, RPL35A, RPN1, RYK, SATB1, ATXN7, SCN5A, SCN10A, SEC13, SEMA3F, SETMAR, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC6A1, SLC6A6, SLC6A11, SLC15A2, SLCO2A1, HLTF, SMARCC1, SOX2, SSR3, SST, STAC, NEK4, SYN2, TCTA, TDGF1, TERC, TF, TFDP2, TFRC, TGM4, TGFBR2, THPO, THRB, TIMP4, TKT, SEC62, TM4SF4, TMF1, CLEC3B, TNNC1, TOP2B, NR2C2, TRH, TRPC1, UBA7, UBE2E1, UBE2E2, UBP1, UPK1B, UMPS, USP4, UQCRC1, CLRN1, VHL, VIPR1, WNT5A, WNT7A, XPC, ZIC1, CNBP, ZNF35, ZNF80, ZNF148, BRPF1, IFRD2, MAPKAPK3, SEMA3B, SLMAP, MANF, RAB7A, KCNAB1, FXR1, COLQ, ACOX2, BAP1, EOMES, HYAL3, SOX14, BFSP2, CAMK1, CGGBP1, BHLHE40, RUVBL1, CADPS, TP63, CHRD, HYAL2, B4GALT4, B3GALNT1, SNX4, TNFSF10, SUCLG2, HESX1, GMPS, KAT2B, NR1I2, EIF2B5, BSN, MBD4, H1FX, USP13, LIMD1, KALRN, CCRL2, UBA3, RPL14, CLDN1, SEC22C, RRP9, MAP3K13, SLC33A1, LRRFIP2, MAGI1, CACNA2D2, COPB2, ADIPOQ, SLC22A14, SLC22A13, CHST2, SH3BP5, SLC4A7, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, VGLL4, EDEM1, RUBCN, ECE2, DCAF1, TBC1D5, TATDN2, IP6K1, TSC22D2, EPM2AIP1, PSMD6, TOMM70, TRANK1, SRGAP3, IQSEC1, P2RY14, DLEC1, EXOG, XYLB, OXSR1, NR1D2, PDCD6IP, PARP3, SMC4, ABCC5, COX17, ARPC4, ZNF197, RBM6, RBM5, TNK2, ALG3, NME6, CTDSPL, CD96, KCNMB2, STAG1, EIF1B, TRAIP, TFG, ST3GAL6, ARIH2, TADA3, CRTAP, ATG7, ARL6IP5, NPRL2, IGF2BP2, CXCR6, CSPG5, CLDN16, POLQ, CHL1, ARPP21, CCR9, ALDH1L1, USP19, PDIA5, SLC38A3, CYB561D2, TMEM115, TOPBP1, RPP14, HHLA2, FSTL1, FAM107A, WDR6, RASSF1, NISCH, MRPL3, PDCD10, FILIP1L, TREX1, SCN11A, TUSC2, RNF13, MGLL, TWF2, MRAS, COPG1, SLITRK3, NLGN1, TRAK1, DHX30, SACM1L, NCBP2, SCAP, MYH15, PLCH1, EXOSC7, TMCC1, PDZRN3, TNIK, CAND2, MCF2L2, CLASP2, PLXND1, RAD54L2, FRMD4B, STAB1, GPD1L, RFTN1, ATP11B, NBEAL2, NUP210, PLCL2, ANKRD28, TASOR, KLHL18, DNAJC13, U2SURP, VPS8, LARS2, RYBP, LINC01565, CAPN7, ACAP2, MKRN2, NAA80, FBXL2, ANAPC13, ARMC8, ABHD14A, NEPRO, POC1A, ABI3BP, CNOT10, TMEM158, NDUFAF3, THUMPD3, MYRIP, PTPN23, WWTR1, NECTIN3, TIPARP, CHMP2B, DNAH1, HIGD1A, LRIG1, SUSD5, UBXN7, ERC2, APPL1, HACL1, ARHGEF26, ZBTB20, TTLL3, OR5K1, OR5H1, GNL3, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, FOXP1, KCNMB3, ZBTB11, MORC1, SERP1, CNTN6, LSM3, RBMS3, GOLIM4, NKIRAS1, SPCS1, ACAD9, ASTE1, KLF15, SETD2, GTPBP8, TAGLN3, PRSS50, RBM15B, GPR171, GMPPB, SEC61A1, LINC00312, SCHIP1, LMCD1, PIK3R4, PODXL2, ARHGEF3, TRAT1, VILL, IMPG2, SSUH2, NMD3, TRNT1, ABHD5, COMMD2, DYNC1LI1, A4GNT, C3orf18, DBR1, CRBN, SS18L2, ZNF639, CLDN18, CCDC174, SHISA5, TIMMDC1, ZDHHC3, RSRC1, ZMYND10, PLA1A, TEX264, TMA7, ZNF589, HEMK1, AMOTL2, IP6K2, SFMBT1, NCKIPSD, PHF7, ACKR4, PEX5L, RAB6B, SELENOT, FBXO40, DNAJB11, GHRL, P2RY13, IL20RB, GPR87, TLR9, DCUN1D1, SEMA5B, XRN1, WDR5B, LZTFL1, PARP14, P4HTM, SLC6A20, IL17RD, GRAMD1C, ROPN1, KLHL24, SIDT1, ELP6, SNRK, QRICH1, PXK, CMTM6, TRMT10C, SLC41A3, PIGX, SLC25A38, ULK4, OXSM, SLC35A5, TMEM45A, FEZF2, IFT57, EBLN2, ANO10, DALRD3, SHQ1, MSL2, TBCCD1, FAIM, SLC25A36, PBRM1, ARL8B, SETD5, DPPA4, P3H2, TMEM39A, ZNF654, TMEM40, ABCF3, LSG1, ABHD10, CHDH, PARL, IL17RB, CDV3, MFN1, YEATS2, IFT122, NGLY1, TBC1D23, CFAP44, CACNA2D3, DCP1A, GLT8D1, EMC3, EAF2, BRK1, ZKSCAN7, MYNN, LMOD3, EIF5A2, CLDND1, MUC13, SUCNR1, RAD18, SEMA3G, MCCC1, LXN, HMCES, MRPS22, NIT2, POGLUT1, BBX, KIF15, ADAMTS9, CCNL1, PLSCR2, PCBP4, PLSCR4, PCNP, PLAAT1, MRPL47, SENP7, ABHD6, LRTM1, C3orf14, KIAA1143, ISY1, HHATL, HEG1, KIAA1257, ARHGAP31, NCEH1, IFT80, CCDC191, WDR48, LRRN1, CIP2A, SLC7A14, SRPRB, SELENOK, SENP2, GNB4, PROK2, EEFSEC, RNF123, NSUN3, CIDEC, CLSTN2, POPDC2, RTP4, MAGEF1, RBSN, KIF9, NFKBIZ, AZI2, ZMAT3, MTMR14, ATG3, MRPS25, CSRNP1, GORASP1, MFSD1, CCDC14, FNDC3B, P2RY12, CDCP1, CCDC71, NT5DC2, SLC26A6, TMEM108, CRELD1, CAMKV, TMEM43, OR5H6, OR5H2, ZXDC, ZBED2, LRRC2, FYCO1, ATP13A3, CEP97, HSPBAP1, C3orf52, VEPH1, QTRT2, CCDC51, TBL1XR1, ZBBX, ZNF385D, LRRC31, EFCC1, NEK11, UBA5, HDAC11, MAP6D1, PHC3, C3orf36, ARL14, THOC7, NAA50, PIGZ, CEP63, CEP70, ABTB1, WDR82, SLC35G2, TSEN2, GRIP2, OR5AC2, RTP3, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, C3orf20, ARL6, ZIC4, ATRIP, ACAD11, IQCG, ATP13A4, FYTTD1, NICN1, CHCHD6, MON1A, CMSS1, HPS3, ACTRT3, JAGN1, KBTBD8, SLC12A8, RETNLB, CCDC54, IL17RC, ABHD14B, LRCH3, RIOX2, ADGRG7, POMGNT2, SLC49A4, CEP19, EAF1, DCLK3, GFM1, LMLN, KLHL6, MAATS1, PHLDB2, VWA5B2, UCN2, EFCAB12, TMEM41A, ZNF502, BOC, NXPE3, RFT1, OXNAD1, SPSB4, PXYLP1, ZBTB47, TMEM44, ACTR8, CAMK2N2, CMTM7, TXNRD3, OSBPL10, OSBPL11, ZNF501, FANCD2OS, LRRC58, LRRC3B, TM4SF19, TM4SF18, RPL39L, MED12L, GALNT15, GPR62, CPNE4, CCDC58, KCNH8, DNAJC19, OTOL1, FAM3D, ZPLD1, LYZL4, KLHL40, TRIM71, FAM131A, CD200R1, CHCHD4, ZDHHC19, CRYBG3, DCBLD2, LRRC15, FAM43A, TPRA1, TMEM42, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, METTL6, TAMM41, IL17RE, RTP1, IQCF1, GLYCTK, PPM1M, SNTN, SYNPR, LSMEM2, H1FOO, ASB14, TTC14, DTX3L, TAFA4, SGO1, PP2D1, EFHB, PPM1L, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, SLC66A1L, ZCWPW2, CMC1, NEK10, C3orf79, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, TEX55, PARP15, SPTSSB, DNAJB8, GPR156, XIRP1, RNF168, CHST13, PRICKLE2, KBTBD12, DHX36, HTR3C, DZIP1L, TTC21A, ALG1L, C3orf67, KCTD6, LIPH, ARL13B, DHFR2, HTR3D, RPL22L1, SLC51A, FBXO45, KLHDC8B, MUC20, GABRR3, HACD2, STT3B, DNAH12, PDE12, DENND6A, TIGIT, DIPK2A, SENP5, USF3, NPCDR1, ZBTB38, CADM2, ZNF620, NAALADL2, ZDHHC23, TCTEX1D2, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, ALS2CL, TMIE, SLC9A9, EOGT, EPHA6, FBXW12, C3orf38, HTR3E, ZNF619, ZNF621, RABL3, C3orf56, IGSF10, C3orf33, CCDC66, SLC9C1, TCAIM, ZNF852, ZNF660, SUMF1, RPUSD3, PRRT3, DPH3, C3orf70, TPRG1, ILDR1, TRIM59, TRIM42, EIF4E3, RAB43, CCDC39, CCDC36, KY, C3orf35, GADL1, LRRIQ4, SAMD7, AADACL2, GPR149, ZNF860, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, LNP1, CFAP100, NMNAT3, ZNF445, SPATA12, LHFPL4, TOPAZ1, C3orf62, STIMATE, NRROS, AMIGO3, ZNF662, CDHR4, INKA1, IQCF2, IQCF5, MUSTN1, VGLL3, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, IQCF3, FOXL2NB, C3orf80, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIRLET7G, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, TAFA1, STX19, TMEM89, IQCF6, SMIM4, ARGFX, TMPPE, ALG1L2, TXNRD3NB, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, TMEM183B, IQCJ, SNORA81, MIR570, GXYLT2, FAM157A, GASK1A, CCR2, PRR23A, ESRG, EGOT, GHRLOS, TNK2-AS1, SEMA3F-AS1, ZNF717, MIR1224, FRG2C, IQCJ-SCHIP1, FGD5-AS1, KRBOX1, KRBOX1-AS1, MORC1-AS1, NECTIN3-AS1, IGSF11-AS1, FOXP1-IT1, ARPC4-TTLL3, STIMATE-MUSTN1, ISY1-RAB43
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
4.
GRCh37:
Chr3:128202693-128205884
GRCh38:
Chr3:128483850-128487041
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(May 17, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr3:128204787
GRCh38:
Chr3:128485944
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 21, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr3:128205804-128205805
GRCh38:
Chr3:128486961-128486962
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 8, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr3:128200769
GRCh38:
Chr3:128481926
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 15, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr3:128199920
GRCh38:
Chr3:128481077
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(May 25, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr3:128204909
GRCh38:
Chr3:128486066
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 22, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr3:128204985
GRCh38:
Chr3:128486142
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 5, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr3:128200161
GRCh38:
Chr3:128481318
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jan 23, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr3:128205651
GRCh38:
Chr3:128486808
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 4, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr3:128204712
GRCh38:
Chr3:128485869
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 26, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr3:128204780
GRCh38:
Chr3:128485937
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(May 31, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr3:128205816
GRCh38:
Chr3:128486973
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 26, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr3:128200684
GRCh38:
Chr3:128481841
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Oct 24, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr3:128204623
GRCh38:
Chr3:128485780
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyPathogenic
(Feb 5, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr3:128199974
GRCh38:
Chr3:128481131
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr3:128199903
GRCh38:
Chr3:128481060
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr3:128204698
GRCh38:
Chr3:128485855
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr3:128204680
GRCh38:
Chr3:128485837
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Apr 24, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr3:128204581
GRCh38:
Chr3:128485738
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Feb 2, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr3:128199935
GRCh38:
Chr3:128481092
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Feb 7, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr3:128204866
GRCh38:
Chr3:128486023
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 28, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr3:128202800
GRCh38:
Chr3:128483957
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 4, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr3:128204960
GRCh38:
Chr3:128486117
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 6, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr3:128200069
GRCh38:
Chr3:128481226
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Apr 4, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr3:128204972
GRCh38:
Chr3:128486129
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 8, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr3:128202817-128202830
GRCh38:
Chr3:128483974-128483987
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyPathogenic
(Apr 10, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr3:128204623
GRCh38:
Chr3:128485780
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(May 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr3:128202131
GRCh38:
Chr3:128483288
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely pathogenic
(Jul 5, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr3:128202176
GRCh38:
Chr3:128483333
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 21, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr3:128202787
GRCh38:
Chr3:128483944
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Sep 5, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr3:128202793
GRCh38:
Chr3:128483950
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Aug 11, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr3:128204757
GRCh38:
Chr3:128485914
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Nov 1, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr3:128204640
GRCh38:
Chr3:128485797
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Dec 5, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr3:128202832
GRCh38:
Chr3:128483989
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Nov 15, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr3:128205162
GRCh38:
Chr3:128486319
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Nov 22, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr3:128200653
GRCh38:
Chr3:128481810
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Dec 27, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr3:128200459
GRCh38:
Chr3:128481616
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyBenign
(Jan 22, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr3:128204712
GRCh38:
Chr3:128485869
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Dec 27, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr3:128200776
GRCh38:
Chr3:128481933
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Dec 4, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr3:128204810-128204812
GRCh38:
Chr3:128485967-128485969
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Aug 29, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr3:128200785
GRCh38:
Chr3:128481942
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 15, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr3:128204735
GRCh38:
Chr3:128485892
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr3:128205791
GRCh38:
Chr3:128486948
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Sep 5, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr3:128205139
GRCh38:
Chr3:128486296
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Dec 26, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr3:128205825
GRCh38:
Chr3:128486982
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Feb 19, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr3:128200075
GRCh38:
Chr3:128481232
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Apr 29, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr3:128200062
GRCh38:
Chr3:128481219
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Dec 19, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr3:128204848
GRCh38:
Chr3:128486005
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Dec 22, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr3:128204816
GRCh38:
Chr3:128485973
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Oct 2, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr3:128205830
GRCh38:
Chr3:128486987
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Nov 21, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr3:128204788-128204792
GRCh38:
Chr3:128485945-128485949
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyPathogenic
(Sep 7, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr3:128200057
GRCh38:
Chr3:128481214
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Nov 10, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr3:128205736
GRCh38:
Chr3:128486893
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Nov 6, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr3:128202749
GRCh38:
Chr3:128483906
GATA2Anemia, SplenomegalyUncertain significance
(Jan 1, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr3:128205096
GRCh38:
Chr3:128486253
GATA2not providedPathogenic
(Jan 11, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr3:128202853
GRCh38:
Chr3:128484010
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Apr 6, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr3:128204626
GRCh38:
Chr3:128485783
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Nov 22, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr3:128204693
GRCh38:
Chr3:128485850
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jan 23, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr3:128204767
GRCh38:
Chr3:128485924
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(May 25, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr3:128205810
GRCh38:
Chr3:128486967
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(May 9, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr3:128204792
GRCh38:
Chr3:128485949
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Jul 20, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr3:128204845
GRCh38:
Chr3:128486002
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Sep 18, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr3:128204784
GRCh38:
Chr3:128485941
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Sep 14, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr3:128204881
GRCh38:
Chr3:128486038
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Feb 7, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr3:128204949
GRCh38:
Chr3:128486106
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Mar 17, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr3:128205078
GRCh38:
Chr3:128486235
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Jul 31, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr3:128205130
GRCh38:
Chr3:128486287
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 8, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr3:128205845
GRCh38:
Chr3:128487002
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 29, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr3:128205186
GRCh38:
Chr3:128486343
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Apr 7, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr3:128205852
GRCh38:
Chr3:128487009
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Mar 3, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr3:128205667
GRCh38:
Chr3:128486824
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Jan 10, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr3:128205698
GRCh38:
Chr3:128486855
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Apr 26, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr3:128205699
GRCh38:
Chr3:128486856
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(May 18, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr3:128205859
GRCh38:
Chr3:128487016
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Feb 13, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr3:128205722
GRCh38:
Chr3:128486879
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(May 24, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr3:128199877
GRCh38:
Chr3:128481034
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Apr 9, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr3:128199925
GRCh38:
Chr3:128481082
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Jan 9, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr3:128199933
GRCh38:
Chr3:128481090
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jul 6, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr3:128199976
GRCh38:
Chr3:128481133
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Mar 13, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr3:128199985
GRCh38:
Chr3:128481142
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Feb 25, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr3:128200003
GRCh38:
Chr3:128481160
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Jun 19, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr3:128200031
GRCh38:
Chr3:128481188
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Apr 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr3:128200032
GRCh38:
Chr3:128481189
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 8, 2017)
criteria provided, single submitter
87.
GRCh37:
Chr3:128200042
GRCh38:
Chr3:128481199
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Feb 15, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr3:128200073
GRCh38:
Chr3:128481230
GATA2Acute myeloid leukemia, Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency,
Myelodysplastic syndrome
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:128200118
GRCh38:
Chr3:128481275
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyPathogenic
(Jun 30, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr3:128200126
GRCh38:
Chr3:128481283
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Apr 7, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr3:128200137-128200145
GRCh38:
Chr3:128481294-128481302
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jul 4, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr3:128200677
GRCh38:
Chr3:128481834
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Oct 6, 2017)
criteria provided, single submitter
93.
GRCh37:
Chr3:128200692
GRCh38:
Chr3:128481849
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Aug 17, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr3:128205767
GRCh38:
Chr3:128486924
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Jun 14, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr3:128200724
GRCh38:
Chr3:128481881
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely pathogenic
(Mar 26, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr3:128200767
GRCh38:
Chr3:128481924
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jul 20, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr3:128200780
GRCh38:
Chr3:128481937
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 10, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr3:128200782-128200786
GRCh38:
Chr3:128481939-128481943
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyUncertain significance
(Jun 27, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr3:128200782
GRCh38:
Chr3:128481939
GATA2Lymphedema, primary, with myelodysplasia, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiencyLikely benign
(Nov 22, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr3:61892-197851986
AADAC, ACAA1, ACPP, ACTL6A, ACVR2B, ACY1, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, AMT, APEH, APOD, ARF4, RHOA, ATP1B3, ATP2B2, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, BTD, CACNA1D, SLC25A20, CAMP, CASR, CAV3, CBLB, CCK, CD80, CD86, ENTPD3, CD47, CDC25A, CISH, AP2M1, CLCN2, CCR1, CCR3, CCR4, CCR5, CCR8, ACKR2, COL7A1, COL8A1, CP, CPA3, CPB1, CPN2, CPOX, CRYGS, CSTA, CTNNB1, CX3CR1, CYP8B1, DAG1, DGKG, DAZL, DLG1, DNASE1L3, DOCK3, DRD3, DUSP7, DVL3, ECT2, CELSR3, EHHADH, EIF4A2, EIF4G1, EPHA3, EPHB1, EPHB3, ETV5, MECOM, FANCD2, FBLN2, FGF12, FHIT, FLNB, GAP43, GATA2, GBE1, GHSR, GLB1, GNAI2, GNAT1, GOLGA4, GOLGB1, GP5, GP9, XCR1, GPR15, GPR27, GPX1, GRM2, GRM7, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRH1, HRG, HES1, HTR1F, HYAL1, IL1RAP, IL5RA, IL12A, IMPDH2, IRAK2, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, KNG1, KPNA1, KPNA4, LAMB2, RPSA, LPP, LSAMP, LTF, TM4SF1, MAP4, MBNL1, MCM2, MELTF, MITF, MLF1, MLH1, MME, MOBP, CD200, MST1, MST1R, MUC4, MYD88, MYL3, MYLK, NCK1, NDUFB4, NDUFB5, NKTR, OGG1, OPA1, CLDN11, OXTR, P2RY1, PAK2, CNTN3, PCCB, PCYT1A, PDHB, PFKFB4, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLCD1, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, PLXNB1, POLR2H, POU1F1, PPARG, PPP1R2, PPP2R3A, PRKAR2A, PRKCD, PRKCI, PROS1, MASP1, PSMD2, PTH1R, PTPRG, PTX3, QARS, RAB5A, RAF1, RAP2B, RARB, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, SNORA62, ROBO1, ROBO2, RPL15, RPL24, RPL29, RPL32, RPL35A, RPN1, RYK, SATB1, ATXN7, SCN5A, SCN10A, SEC13, SEMA3F, SETMAR, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC6A1, SLC6A6, SLC6A11, SLC15A2, SLCO2A1, HLTF, SMARCC1, SOX2, SSR3, SST, STAC, NEK4, SYN2, TCTA, TDGF1, TERC, TF, TFDP2, TFRC, TGM4, TGFBR2, THPO, THRB, TIMP4, TKT, SEC62, TM4SF4, TMF1, CLEC3B, TNNC1, TOP2B, NR2C2, TRH, TRPC1, UBA7, UBE2E1, UBE2E2, UBP1, UPK1B, UMPS, USP4, UQCRC1, CLRN1, VHL, VIPR1, WNT5A, WNT7A, XPC, ZIC1, CNBP, ZNF35, ZNF80, ZNF148, BRPF1, IFRD2, MAPKAPK3, SEMA3B, SLMAP, MANF, RAB7A, KCNAB1, FXR1, COLQ, ACOX2, BAP1, EOMES, HYAL3, SOX14, BFSP2, CAMK1, CGGBP1, BHLHE40, RUVBL1, CADPS, TP63, CHRD, HYAL2, B4GALT4, B3GALNT1, SNX4, TNFSF10, SUCLG2, HESX1, GMPS, KAT2B, NR1I2, EIF2B5, BSN, MBD4, H1FX, USP13, LIMD1, KALRN, CCRL2, UBA3, RPL14, CLDN1, SEC22C, RRP9, MAP3K13, SLC33A1, LRRFIP2, MAGI1, CACNA2D2, COPB2, ADIPOQ, SLC22A14, SLC22A13, CHST2, SH3BP5, SLC4A7, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, VGLL4, EDEM1, RUBCN, ECE2, DCAF1, TBC1D5, TATDN2, IP6K1, TSC22D2, EPM2AIP1, PSMD6, TOMM70, TRANK1, SRGAP3, IQSEC1, P2RY14, DLEC1, EXOG, XYLB, OXSR1, NR1D2, PDCD6IP, PARP3, SMC4, ABCC5, COX17, ARPC4, ZNF197, RBM6, RBM5, TNK2, ALG3, NME6, CTDSPL, CD96, KCNMB2, STAG1, EIF1B, TRAIP, TFG, ST3GAL6, ARIH2, TADA3, CRTAP, ATG7, ARL6IP5, NPRL2, IGF2BP2, CXCR6, CSPG5, CLDN16, POLQ, CHL1, ARPP21, CCR9, ALDH1L1, USP19, PDIA5, SLC38A3, CYB561D2, TMEM115, TOPBP1, RPP14, HHLA2, FSTL1, FAM107A, WDR6, RASSF1, NISCH, MRPL3, PDCD10, FILIP1L, TREX1, SCN11A, TUSC2, RNF13, MGLL, TWF2, MRAS, COPG1, SLITRK3, NLGN1, TRAK1, DHX30, SACM1L, NCBP2, SCAP, MYH15, PLCH1, EXOSC7, TMCC1, PDZRN3, TNIK, CAND2, MCF2L2, CLASP2, PLXND1, RAD54L2, FRMD4B, STAB1, GPD1L, RFTN1, ATP11B, NBEAL2, NUP210, PLCL2, ANKRD28, TASOR, KLHL18, DNAJC13, U2SURP, VPS8, LARS2, RYBP, LINC01565, CAPN7, ACAP2, MKRN2, NAA80, FBXL2, ANAPC13, ARMC8, ABHD14A, NEPRO, POC1A, ABI3BP, CNOT10, TMEM158, NDUFAF3, THUMPD3, MYRIP, PTPN23, WWTR1, NECTIN3, TIPARP, CHMP2B, DNAH1, HIGD1A, LRIG1, SUSD5, UBXN7, ERC2, APPL1, HACL1, ARHGEF26, ZBTB20, TTLL3, OR5K1, OR5H1, GNL3, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, FOXP1, KCNMB3, ZBTB11, MORC1, SERP1, CNTN6, LSM3, RBMS3, GOLIM4, NKIRAS1, SPCS1, ACAD9, ASTE1, KLF15, SETD2, GTPBP8, TAGLN3, PRSS50, RBM15B, GPR171, GMPPB, SEC61A1, LINC00312, SCHIP1, LMCD1, PIK3R4, PODXL2, ARHGEF3, TRAT1, VILL, IMPG2, SSUH2, NMD3, TRNT1, ABHD5, COMMD2, DYNC1LI1, A4GNT, C3orf18, DBR1, CRBN, SS18L2, ZNF639, CLDN18, CCDC174, SHISA5, TIMMDC1, ZDHHC3, RSRC1, ZMYND10, PLA1A, TEX264, TMA7, ZNF589, HEMK1, AMOTL2, IP6K2, SFMBT1, NCKIPSD, PHF7, ACKR4, PEX5L, RAB6B, SELENOT, FBXO40, DNAJB11, GHRL, P2RY13, IL20RB, GPR87, TLR9, DCUN1D1, SEMA5B, XRN1, WDR5B, LZTFL1, PARP14, P4HTM, SLC6A20, IL17RD, GRAMD1C, ROPN1, KLHL24, SIDT1, ELP6, SNRK, QRICH1, PXK, CMTM6, TRMT10C, SLC41A3, PIGX, SLC25A38, ULK4, OXSM, SLC35A5, TMEM45A, FEZF2, IFT57, EBLN2, ANO10, DALRD3, SHQ1, MSL2, TBCCD1, FAIM, SLC25A36, PBRM1, ARL8B, SETD5, DPPA4, P3H2, TMEM39A, ZNF654, TMEM40, ABCF3, LSG1, ABHD10, CHDH, PARL, IL17RB, CDV3, MFN1, YEATS2, IFT122, NGLY1, TBC1D23, CFAP44, CACNA2D3, DCP1A, GLT8D1, EMC3, EAF2, BRK1, ZKSCAN7, MYNN, LMOD3, EIF5A2, CLDND1, MUC13, SUCNR1, RAD18, SEMA3G, MCCC1, LXN, HMCES, MRPS22, NIT2, POGLUT1, BBX, KIF15, ADAMTS9, CCNL1, PLSCR2, PCBP4, PLSCR4, PCNP, PLAAT1, MRPL47, SENP7, ABHD6, LRTM1, C3orf14, KIAA1143, ISY1, HHATL, HEG1, KIAA1257, ARHGAP31, NCEH1, IFT80, CCDC191, WDR48, LRRN1, CIP2A, SLC7A14, SRPRB, SELENOK, SENP2, GNB4, PROK2, EEFSEC, RNF123, NSUN3, CIDEC, CLSTN2, POPDC2, RTP4, MAGEF1, RBSN, KIF9, NFKBIZ, AZI2, ZMAT3, MTMR14, ATG3, MRPS25, CSRNP1, GORASP1, MFSD1, CCDC14, FNDC3B, P2RY12, CDCP1, CCDC71, NT5DC2, SLC26A6, TMEM108, CRELD1, CAMKV, TMEM43, OR5H6, OR5H2, ZXDC, ZBED2, LRRC2, FYCO1, ATP13A3, CEP97, HSPBAP1, C3orf52, VEPH1, QTRT2, CCDC51, TBL1XR1, ZBBX, ZNF385D, LRRC31, EFCC1, NEK11, UBA5, HDAC11, MAP6D1, PHC3, C3orf36, ARL14, THOC7, NAA50, PIGZ, CEP63, CEP70, ABTB1, WDR82, SLC35G2, TSEN2, GRIP2, OR5AC2, RTP3, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, C3orf20, ARL6, ZIC4, ATRIP, ACAD11, IQCG, ATP13A4, FYTTD1, NICN1, CHCHD6, MON1A, CMSS1, HPS3, ACTRT3, JAGN1, KBTBD8, SLC12A8, RETNLB, CCDC54, IL17RC, ABHD14B, LRCH3, RIOX2, ADGRG7, POMGNT2, SLC49A4, CEP19, EAF1, DCLK3, GFM1, LMLN, KLHL6, MAATS1, PHLDB2, VWA5B2, UCN2, EFCAB12, TMEM41A, ZNF502, BOC, NXPE3, RFT1, OXNAD1, SPSB4, PXYLP1, ZBTB47, TMEM44, ACTR8, CAMK2N2, CMTM7, TXNRD3, OSBPL10, OSBPL11, ZNF501, FANCD2OS, LRRC58, LRRC3B, TM4SF19, TM4SF18, RPL39L, MED12L, GALNT15, GPR62, CPNE4, CCDC58, KCNH8, DNAJC19, OTOL1, FAM3D, ZPLD1, LYZL4, KLHL40, TRIM71, FAM131A, CD200R1, CHCHD4, ZDHHC19, CRYBG3, DCBLD2, LRRC15, FAM43A, TPRA1, TMEM42, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, METTL6, TAMM41, IL17RE, RTP1, IQCF1, GLYCTK, PPM1M, SNTN, SYNPR, LSMEM2, H1FOO, ASB14, TTC14, DTX3L, TAFA4, SGO1, PP2D1, EFHB, PPM1L, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, SLC66A1L, ZCWPW2, CMC1, NEK10, C3orf79, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, TEX55, PARP15, SPTSSB, DNAJB8, GPR156, XIRP1, RNF168, CHST13, PRICKLE2, KBTBD12, DHX36, HTR3C, DZIP1L, TTC21A, ALG1L, C3orf67, KCTD6, LIPH, ARL13B, DHFR2, HTR3D, RPL22L1, SLC51A, FBXO45, KLHDC8B, MUC20, GABRR3, HACD2, STT3B, DNAH12, PDE12, DENND6A, TIGIT, DIPK2A, SENP5, USF3, NPCDR1, ZBTB38, CADM2, ZNF620, NAALADL2, ZDHHC23, TCTEX1D2, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, ALS2CL, TMIE, SLC9A9, EOGT, EPHA6, FBXW12, C3orf38, HTR3E, ZNF619, ZNF621, RABL3, C3orf56, IGSF10, C3orf33, CCDC66, SLC9C1, TCAIM, ZNF852, ZNF660, SUMF1, RPUSD3, PRRT3, DPH3, C3orf70, TPRG1, ILDR1, TRIM59, TRIM42, EIF4E3, RAB43, CCDC39, CCDC36, KY, C3orf35, GADL1, LRRIQ4, SAMD7, AADACL2, GPR149, ZNF860, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, LNP1, CFAP100, NMNAT3, ZNF445, SPATA12, LHFPL4, TOPAZ1, C3orf62, STIMATE, NRROS, AMIGO3, ZNF662, CDHR4, INKA1, IQCF2, IQCF5, MUSTN1, VGLL3, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, IQCF3, FOXL2NB, C3orf80, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIRLET7G, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, TAFA1, STX19, TMEM89, IQCF6, SMIM4, ARGFX, TMPPE, ALG1L2, TXNRD3NB, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, TMEM183B, IQCJ, SNORA81, MIR570, GXYLT2, GASK1A, CCR2, PRR23A, ESRG, EGOT, GHRLOS, TNK2-AS1, SEMA3F-AS1, ZNF717, MIR1224, FRG2C, IQCJ-SCHIP1, FGD5-AS1, KRBOX1, KRBOX1-AS1, MORC1-AS1, NECTIN3-AS1, IGSF11-AS1, FOXP1-IT1, ARPC4-TTLL3, STIMATE-MUSTN1, ISY1-RAB43
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
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