S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Links from Gene

Items: 31

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr3:122056432
GRCh38:
Chr3:122337585
CSTAnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001297253
2.
GRCh37:
Chr3:122060274
GRCh38:
Chr3:122341427
CSTAnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001285997
3.
GRCh37:
Chr3:122059949
GRCh38:
Chr3:122341102
CSTAnot providedBenign
(Nov 11, 2018)
criteria provided, single submitterVCV001283419
4.
GRCh37:
Chr3:122060077
GRCh38:
Chr3:122341230
CSTAnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001268987
5.
GRCh37:
Chr3:122043905
GRCh38:
Chr3:122325058
CSTAnot providedBenign
(Nov 11, 2018)
criteria provided, single submitterVCV001243366
6.
GRCh37:
Chr3:122044083
GRCh38:
Chr3:122325236
CSTAnot providedBenign
(May 20, 2021)
criteria provided, single submitterVCV001234249
7.
GRCh37:
Chr3:122060404
GRCh38:
Chr3:122341557
CSTAT96Mnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001232816
8.
GRCh37:
Chr3:120154188-128324987
GATA2 deficiency with susceptibility to MDS/AML, Lymphedema, primary, with myelodysplasiaPathogenic
(Jul 6, 2021)
criteria provided, single submitterVCV001183989
9.
GRCh37:
Chr3:122060390
GRCh38:
Chr3:122341543
CSTAK91Nnot providedBenign
(May 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000767925
10.
GRCh37:
Chr3:121384741-123672180
not providedUncertain significance
(Mar 21, 2018)
no assertion criteria providedVCV000687972
11.
GRCh37:
Chr3:61495-197838262
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, CFAP92, 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, AADAC, ACAA1, ACP3, ACTL6A, ACVR2B, HPS3, ACTRT3, JAGN1, KBTBD8, SLC12A8, RETNLB, ACY1, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, CCDC54, IL17RC, ABHD14B, LRCH3, RIOX2, ADGRG7, ALCAM, AMT, APEH, APOD, ARF4, RHOA, POMGNT2, SLC49A4, CEP19, EAF1, DCLK3, GFM1, ATP1B3, ATP2B2, ATP6V1A, ATR, BCHE, BCL6, LMLN, KLHL6, CFAP91, PHLDB2, VWA5B2, UCN2, 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, 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, MIX23, KCNH8, DNAJC19, OTOL1, FAM3D, ZPLD1, LYZL4, KLHL40, TRIM71, FAM131A, CD200R1, CHCHD4, ZDHHC19, CRYBG3, DCBLD2, LRRC15, FAM43A, TPRA1, TMEM42, UROC1, 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, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, METTL6, TAMM41, IL17RE, RTP1, IQCF1, GLYCTK, PPM1M, SNTN, SYNPR, LSMEM2, H1-8, ASB14, TTC14, DTX3L, TAFA4, SGO1, PP2D1, EFHB, PPM1L, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, ZCWPW2, CMC1, NEK10, LINC02877, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, 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, TEX55, PARP15, SPTSSB, DNAJB8, GPR156, XIRP1, RNF168, CHST13, PRICKLE2, KBTBD12, DHX36, HTR3C, DZIP1L, TTC21A, CFAP20DC, 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, DYNLT2B, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, SERPINI2, PIK3CA, PIK3CB, PLCD1, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, PLXNB1, POLR2H, POU1F1, PPARG, PPP1R2, PPP2R3A, PRKAR2A, PRKCD, PRKCI, PROS1, MASP1, PSMD2, PTH1R, PTPRG, PTX3, QARS1, RAB5A, RAF1, RAP2B, RARB, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, SNORA62, ROBO1, ROBO2, RPL15, RPL24, RPL29, RPL32, RPL35A, RPN1, RYK, SATB1, 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, IHO1, KY, APRG1, GADL1, LRRIQ4, SAMD7, AADACL2, GPR149, ZNF860, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, 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, 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, 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, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, 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, GMPS, KAT2B, NR1I2, EIF2B5, BSN, MBD4, H1-10, 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
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000605502
12.
GRCh37:
Chr3:60174-197948027
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, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, ZCWPW2, CMC1, NEK10, LINC02877, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, TEX55, PARP15, SPTSSB, DNAJB8, GPR156, XIRP1, RNF168, CHST13, PRICKLE2, KBTBD12, DHX36, HTR3C, DZIP1L, TTC21A, CFAP20DC, KCTD6, LIPH, ARL13B, DHFR2, HTR3D, RPL22L1, SLC51A, FBXO45, KLHDC8B, 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, MUC20, GABRR3, HACD2, STT3B, DNAH12, PDE12, DENND6A, TIGIT, DIPK2A, SENP5, USF3, NPCDR1, ZBTB38, CADM2, ZNF620, NAALADL2, ZDHHC23, DYNLT2B, 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, QARS1, 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, C3orf70, TPRG1, ILDR1, TRIM59, TRIM42, EIF4E3, RAB43, CCDC39, IHO1, KY, APRG1, 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, 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, LEKR1, TMEM212, IQCF3, FOXL2NB, C3orf80, OR5K2, EOMES, HYAL3, SOX14, BFSP2, CAMK1, CGGBP1, OR5H14, OR5H15, OR5K3, OR5K4, MIRLET7G, MIR128-2, BHLHE40, RUVBL1, CADPS, TP63, CHRD, HYAL2, MIR138-1, MIR191, MIR26A1, MIR28, TAFA1, STX19, TMEM89, B4GALT4, B3GALNT1, SNX4, TNFSF10, SUCLG2, HESX1, IQCF6, SMIM4, ARGFX, TMPPE, ALG1L2, TXNRD3NB, GMPS, KAT2B, NR1I2, EIF2B5, BSN, MBD4, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, IQCJ, H1-10, USP13, LIMD1, KALRN, CCRL2, UBA3, SNORA81, MIR570, GXYLT2, FAM157A, GASK1A, RPL14, CLDN1, SEC22C, RRP9, MAP3K13, SLC33A1, CCR2, PRR23A, ESRG, EGOT, GHRLOS, TNK2-AS1, LRRFIP2, MAGI1, CACNA2D2, COPB2, ADIPOQ, SLC22A14, SEMA3F-AS1, ZNF717, MIR1224, FRG2C, IQCJ-SCHIP1, FGD5-AS1, 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, KRBOX1, KRBOX1-AS1, MORC1-AS1, NECTIN3-AS1, IGSF11-AS1, FOXP1-IT1, ARPC4-TTLL3, STIMATE-MUSTN1, ISY1-RAB43, 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, CFAP92, 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, AADAC, ACAA1, ACP3, ACTL6A, ACVR2B, HPS3, ACTRT3, JAGN1, KBTBD8, SLC12A8, RETNLB, ACY1, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, CCDC54, IL17RC, ABHD14B, LRCH3, RIOX2, ADGRG7, ALCAM, AMT, APEH, APOD, ARF4, RHOA, POMGNT2, SLC49A4, CEP19, EAF1, DCLK3, GFM1, ATP1B3, ATP2B2, ATP6V1A, ATR, BCHE, BCL6, LMLN, KLHL6, CFAP91, PHLDB2, VWA5B2, UCN2, BDH1, FOXL2, BTD, CACNA1D, SLC25A20, CAMP, EFCAB12, TMEM41A, ZNF502, BOC, NXPE3, RFT1, CASR, CAV3, CBLB, CCK, CD80, CD86, OXNAD1, SPSB4, PXYLP1, ZBTB47, TMEM44, ACTR8, ENTPD3, CD47, CDC25A, CISH, AP2M1, CLCN2, CAMK2N2, CMTM7, TXNRD3, OSBPL10, OSBPL11, ZNF501, CCR1, CCR3, CCR4, CCR5, CCR8, ACKR2, FANCD2OS, LRRC58, LRRC3B, TM4SF19, TM4SF18, RPL39L, 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, MED12L, GALNT15, GPR62, CPNE4, MIX23, 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, H1-8, ASB14, TTC14, DTX3L, TAFA4, SGO1, PP2D1, EFHB, PPM1L
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000605497
13.
GRCh37:
Chr3:115518341-122129283
not providedPathogenic
(Dec 29, 2017)
no assertion criteria providedVCV000562809
14.
GRCh37:
Chr3:122056429-122056430
GRCh38:
Chr3:122337582-122337583
CSTAY35fsnot providedLikely pathogenic
(Jul 6, 2017)
criteria provided, single submitterVCV000450304
15.
GRCh37:
Chr3:61892-197851986
A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABHD10, ABHD14A, ABHD14B, ABHD5, ABHD6, ABI3BP, ABTB1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACKR4, ACOX2, ACP3, ACTL6A, ACTR8, ACTRT3, ACVR2B, ACY1, ADAMTS9, ADCY5, ADGRG7, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L2, ALG3, ALS2CL, AMIGO3, AMOTL2, AMT, ANAPC13, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, APOD, APPL1, APRG1, ARF4, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARIH2, ARIH2OS, ARL13B, ARL14, ARL6, ARL6IP5, ARL8B, ARMC8, ARPC4, ARPC4-TTLL3, ARPP21, ASB14, ASTE1, ATG3, ATG7, ATP11B, ATP13A3, ATP13A4, ATP13A5, ATP1B3, ATP2B2, ATP2C1, ATP6V1A, ATR, ATRIP, ATXN7, AZI2, B3GALNT1, B3GNT5, B4GALT4, BAP1, BBX, BCHE, BCL6, BDH1, BFSP2, BHLHE40, BOC, BRK1, BRPF1, BSN, BTD, BTLA, C3orf14, C3orf18, C3orf20, C3orf22, C3orf33, C3orf36, C3orf38, C3orf52, C3orf56, C3orf62, C3orf70, C3orf80, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CADM2, CADPS, CAMK1, CAMK2N2, CAMKV, CAMP, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC191, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCDC80, CCK, CCNL1, CCR1, CCR2, CCR3, CCR4, CCR5, CCR8, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD47, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CDV3, CELSR3, CEP19, CEP63, CEP70, CEP97, CFAP100, CFAP20DC, CFAP44, CFAP91, CFAP92, CGGBP1, CHCHD4, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CHST2, CIDEC, CIP2A, CISH, CLASP2, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLDND1, CLEC3B, CLRN1, CLSTN2, CMC1, CMSS1, CMTM6, CMTM7, CMTM8, CNBP, CNOT10, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COL8A1, COLQ, COMMD2, COPB2, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPNE9, CPOX, CRBN, CRELD1, CRTAP, CRYBG3, CRYGS, CSPG5, CSRNP1, CSTA, CTDSPL, CTNNB1, CX3CR1, CXCR6, CYB561D2, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCAF1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DENND6A, DGKG, DHFR2, DHX30, DHX36, DIPK2A, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNAJC19, DNASE1L3, DOCK3, DPH3, DPPA2, DPPA4, DRD3, DTX3L, DUSP7, DVL3, DYNC1LI1, DYNLT2B, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EGOT, EHHADH, EIF1B, EIF2A, EIF2B5, EIF4A2, EIF4E3, EIF4G1, EIF5A2, ELP6, EMC3, ENTPD3, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, EPM2AIP1, ERC2, ERICH6, ESRG, ESYT3, ETV5, EXOG, EXOSC7, FAIM, FAM107A, FAM131A, FAM162A, FAM3D, FAM43A, FANCD2, FANCD2OS, FBLN2, FBXL2, FBXO40, FBXO45, FBXW12, FETUB, FEZF2, FGD5, FGD5-AS1, FGF12, FHIT, FILIP1L, FLNB, FNDC3B, FOXL2, FOXL2NB, FOXP1, FOXP1-IT1, FRG2C, FRMD4B, FSTL1, FXR1, FYCO1, FYTTD1, GABRR3, GADL1, GALNT15, GAP43, GASK1A, GATA2, GBE1, GCSAM, GFM1, GHRL, GHRLOS, GHSR, GK5, GLB1, GLT8D1, GLYCTK, GMNC, GMPPB, GMPS, GNAI2, GNAT1, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GORASP1, GP5, GP9, GPD1L, GPR149, GPR15, GPR156, GPR160, GPR171, GPR27, GPR62, GPR87, GPX1, GRAMD1C, GRIP2, GRK7, GRM2, GRM7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GXYLT2, GYG1, H1-10, H1-8, HACD2, HACL1, HCLS1, HDAC11, HEG1, HEMK1, HES1, HESX1, HGD, HHATL, HHLA2, HIGD1A, HLTF, HMCES, HPS3, HRG, HRH1, HSPBAP1, HTR1F, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT122, IFT57, IFT80, IGF2BP2, IGSF10, IGSF11, IGSF11-AS1, IHO1, IL12A, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, IL20RB, IL5RA, ILDR1, IMPDH2, IMPG2, INKA1, IP6K1, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF6, IQCG, IQCJ, IQCJ-SCHIP1, IQSEC1, IRAK2, ISY1, ISY1-RAB43, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNH8, KCNMB2, KCNMB3, KCTD6, KIAA1143, KIF15, KIF9, KLF15, KLHDC8B, KLHL18, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KPNA4, KRBOX1, KRBOX1-AS1, KY, LAMB2, LAMP3, LARS2, LEKR1, LHFPL4, LIMD1, LINC00312, LINC01565, LINC02877, LIPH, LMCD1, LMLN, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRFIP2, LRRIQ4, LRRN1, LRTM1, LSAMP, LSG1, LSM3, LSMEM2, LTF, LXN, LYZL4, LZTFL1, MAGEF1, MAGI1, MANF, MAP3K13, MAP4, MAP6D1, MAPKAPK3, MASP1, MB21D2, MBD4, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MELTF, METTL6, MFN1, MFSD1, MGLL, MINDY4B, MIR1224, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, MIR570, MIRLET7G, MITF, MIX23, MKRN2, MLF1, MLH1, MME, MOBP, MON1A, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MRPS25, MSL2, MST1, MST1R, MTMR14, MUC13, MUC20, MUC4, MUSTN1, MYD88, MYH15, MYL3, MYLK, MYNN, MYRIP, NAA50, NAA80, NAALADL2, NBEAL2, NCBP2, NCEH1, NCK1, NCKIPSD, NDUFAF3, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK10, NEK11, NEK4, NEPRO, NFKBIZ, NGLY1, NICN1, NISCH, NIT2, NKIRAS1, NKTR, NLGN1, NMD3, NME6, NME9, NMNAT3, NPCDR1, NPHP3, NPRL2, NR1D2, NR1I2, NR2C2, NRROS, NSUN3, NT5DC2, NUDT16, NUP210, NXPE3, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL10, OSBPL11, OSTN, OTOL1, OXNAD1, OXSM, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P4HTM, PAK2, PAQR9, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCCB, PCNP, PCOLCE2, PCYT1A, PDCD10, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PEX5L, PFKFB4, PFN2, PHC3, PHF7, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CB, PIK3R4, PLA1A, PLAAT1, PLCD1, PLCH1, PLCL2, PLCXD2, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXNB1, PLXND1, POC1A, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, POU1F1, PP2D1, PPARG, PPM1L, PPM1M, PPP1R2, PPP2R3A, PPP4R2, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PROK2, PROS1, PRR23A, PRR23B, PRR23C, PRRT3, PRSS50, PSMD2, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PXYLP1, PYDC2, QARS1, QRICH1, QTRT2, RAB43, RAB5A, RAB6B, RAB7A, RABL3, RAD18, RAD54L2, RAF1, RAP2B, RARB, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RBMS3, RBP1, RBP2, RBSN, RETNLB, RFC4, RFT1, RFTN1, RHO, RHOA, RIOX2, RNF123, RNF13, RNF168, RNF7, ROBO1, ROBO2, ROPN1, ROPN1B, RPL14, RPL15, RPL22L1, RPL24, RPL29, RPL32, RPL35A, RPL39L, RPN1, RPP14, RPSA, RPUSD3, RRP9, RSRC1, RTP1, RTP2, RTP3, RTP4, RUBCN, RUVBL1, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCHIP1, SCN10A, SCN11A, SCN5A, SEC13, SEC22A, SEC22C, SEC61A1, SEC62, SELENOK, SELENOT, SEMA3B, SEMA3F, SEMA3F-AS1, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERP1, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SFMBT1, SGO1, SH3BP5, SHISA5, SHOX2, SHQ1, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A20, SLC25A36, SLC25A38, SLC26A6, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC38A3, SLC41A3, SLC49A4, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SMARCC1, SMC4, SMCO1, SMIM4, SNORA62, SNORA63, SNORA81, SNRK, SNTN, SNX4, SOX14, SOX2, SOX2-OT, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SPTSSB, SRGAP3, SRPRB, SS18L2, SSR3, SST, SSUH2, ST3GAL6, ST6GAL1, STAB1, STAC, STAG1, STIMATE, STIMATE-MUSTN1, STT3B, STX19, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, SYN2, SYNPR, TADA3, TAFA1, TAFA4, TAGLN3, TAMM41, TASOR, TATDN2, TBC1D23, TBC1D5, TBCCD1, TBL1XR1, TCAIM, TCTA, TDGF1, TERC, TEX264, TEX55, TF, TFDP2, TFG, TFRC, TGFBR2, TGM4, THOC7, THPO, THRB, THUMPD3, TIGIT, TIMMDC1, TIMP4, TIPARP, TKT, TLR9, TM4SF1, TM4SF18, TM4SF19, TM4SF4, TMA7, TMCC1, TMEM108, TMEM115, TMEM158, TMEM207, TMEM212, TMEM39A, TMEM40, TMEM41A, TMEM42, TMEM43, TMEM44, TMEM45A, TMEM89, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TNNC1, TOMM70, TOP2B, TOPAZ1, TOPBP1, TP63, TPRA1, TPRG1, TRA2B, TRAIP, TRAK1, TRANK1, TRAT1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TSC22D2, TSEN2, TTC14, TTC21A, TTLL3, TUSC2, TWF2, TXNRD3, TXNRD3NB, U2SURP, UBA3, UBA5, UBA7, UBE2E1, UBE2E2, UBP1, UBXN7, UCN2, ULK4, UMPS, UPK1B, UQCRC1, UROC1, USF3, USP13, USP19, USP4, UTS2B, VEPH1, VGLL3, VGLL4, VHL, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR53, WDR5B, WDR6, WDR82, WNT5A, WNT7A, WWTR1, XCR1, XIRP1, XPC, XRN1, XXYLT1, XYLB, YEATS2, ZBBX, ZBED2, ZBTB11, ZBTB20, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZDHHC3, ZIC1, ZIC4, ZKSCAN7, ZMAT3, ZMYND10, ZNF148, ZNF197, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF660, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000442401
16.
GRCh37:
Chr3:61892-197851986
USF3, USP13, USP19, USP4, UTS2B, VEPH1, VGLL3, VGLL4, VHL, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR53, WDR5B, WDR6, WDR82, WNT5A, WNT7A, WWTR1, XCR1, XIRP1, XPC, XRN1, XXYLT1, XYLB, YEATS2, ZBBX, ZBED2, ZBTB11, ZBTB20, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZDHHC3, ZIC1, ZIC4, ZKSCAN7, ZMAT3, ZMYND10, ZNF148, ZNF197, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF660, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZPLD1, ZXDC, A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABHD10, ABHD14A, ABHD14B, ABHD5, ABHD6, ABI3BP, ABTB1, ACAA1, ACAD11, ACAD9, ACAP2, ACKR2, ACKR4, ACOX2, ACP3, ACTL6A, ACTR8, ACTRT3, ACVR2B, ACY1, ADAMTS9, ADCY5, ADGRG7, ADIPOQ, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L2, ALG3, ALS2CL, AMIGO3, AMOTL2, AMT, ANAPC13, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, APOD, APPL1, APRG1, ARF4, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARIH2, ARIH2OS, ARL13B, ARL14, ARL6, ARL6IP5, ARL8B, ARMC8, ARPC4, ARPC4-TTLL3, ARPP21, ASB14, ASTE1, ATG3, ATG7, ATP11B, ATP13A3, ATP13A4, ATP13A5, ATP1B3, ATP2B2, ATP2C1, ATP6V1A, ATR, ATRIP, ATXN7, AZI2, B3GALNT1, B3GNT5, B4GALT4, BAP1, BBX, BCHE, BCL6, BDH1, BFSP2, BHLHE40, BOC, BRK1, BRPF1, BSN, BTD, BTLA, C3orf14, C3orf18, C3orf20, C3orf22, C3orf33, C3orf36, C3orf38, C3orf52, C3orf56, C3orf62, C3orf70, C3orf80, C3orf84, CACNA1D, CACNA2D2, CACNA2D3, CADM2, CADPS, CAMK1, CAMK2N2, CAMKV, CAMP, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC191, CCDC39, CCDC50, CCDC51, CCDC54, CCDC66, CCDC71, CCDC80, CCK, CCNL1, CCR1, CCR2, CCR3, CCR4, CCR5, CCR8, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD47, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CDV3, CELSR3, CEP19, CEP63, CEP70, CEP97, CFAP100, CFAP20DC, CFAP44, CFAP91, CFAP92, CGGBP1, CHCHD4, CHCHD6, CHDH, CHL1, CHMP2B, CHRD, CHST13, CHST2, CIDEC, CIP2A, CISH, CLASP2, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLDND1, CLEC3B, CLRN1, CLSTN2, CMC1, CMSS1, CMTM6, CMTM7, CMTM8, CNBP, CNOT10, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COL8A1, COLQ, COMMD2, COPB2, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CPNE9, CPOX, CRBN, CRELD1, CRTAP, CRYBG3, CRYGS, CSPG5, CSRNP1, CSTA, CTDSPL, CTNNB1, CX3CR1, CXCR6, CYB561D2, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCAF1, DCBLD2, DCLK3, DCP1A, DCUN1D1, DENND6A, DGKG, DHFR2, DHX30, DHX36, DIPK2A, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNAJC19, DNASE1L3, DOCK3, DPH3, DPPA2, DPPA4, DRD3, DTX3L, DUSP7, DVL3, DYNC1LI1, DYNLT2B, DZIP1L, DZIP3, EAF1, EAF2, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCAB12, EFCC1, EFHB, EGOT, EHHADH, EIF1B, EIF2A, EIF2B5, EIF4A2, EIF4E3, EIF4G1, EIF5A2, ELP6, EMC3, ENTPD3, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, EPM2AIP1, ERC2, ERICH6, ESRG, ESYT3, ETV5, EXOG, EXOSC7, FAIM, FAM107A, FAM131A, FAM162A, FAM3D, FAM43A, FANCD2, FANCD2OS, FBLN2, FBXL2, FBXO40, FBXO45, FBXW12, FETUB, FEZF2, FGD5, FGD5-AS1, FGF12, FHIT, FILIP1L, FLNB, FNDC3B, FOXL2, FOXL2NB, FOXP1, FOXP1-IT1, FRG2C, FRMD4B, FSTL1, FXR1, FYCO1, FYTTD1, GABRR3, GADL1, GALNT15, GAP43, GASK1A, GATA2, GBE1, GCSAM, GFM1, GHRL, GHRLOS, GHSR, GK5, GLB1, GLT8D1, GLYCTK, GMNC, GMPPB, GMPS, GNAI2, GNAT1, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GORASP1, GP5, GP9, GPD1L, GPR149, GPR15, GPR156, GPR160, GPR171, GPR27, GPR62, GPR87, GPX1, GRAMD1C, GRIP2, GRK7, GRM2, GRM7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GXYLT2, GYG1, H1-10, H1-8, HACD2, HACL1, HCLS1, HDAC11, HEG1, HEMK1, HES1, HESX1, HGD, HHATL, HHLA2, HIGD1A, HLTF, HMCES, HPS3, HRG, HRH1, HSPBAP1, HTR1F, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT122, IFT57, IFT80, IGF2BP2, IGSF10, IGSF11, IGSF11-AS1, IHO1, IL12A, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, IL20RB, IL5RA, ILDR1, IMPDH2, IMPG2, INKA1, IP6K1, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQCF5, IQCF6, IQCG, IQCJ, IQCJ-SCHIP1, IQSEC1, IRAK2, ISY1, ISY1-RAB43, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KBTBD8, KCNAB1, KCNH8, KCNMB2, KCNMB3, KCTD6, KIAA1143, KIF15, KIF9, KLF15, KLHDC8B, KLHL18, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KPNA4, KRBOX1, KRBOX1-AS1, KY, LAMB2, LAMP3, LARS2, LEKR1, LHFPL4, LIMD1, LINC00312, LINC01565, LINC02877, LIPH, LMCD1, LMLN, LMOD3, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRFIP2, LRRIQ4, LRRN1, LRTM1, LSAMP, LSG1, LSM3, LSMEM2, LTF, LXN, LYZL4, LZTFL1, MAGEF1, MAGI1, MANF, MAP3K13, MAP4, MAP6D1, MAPKAPK3, MASP1, MB21D2, MBD4, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MED12L, MELTF, METTL6, MFN1, MFSD1, MGLL, MINDY4B, MIR1224, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, MIR570, MIRLET7G, MITF, MIX23, MKRN2, MLF1, MLH1, MME, MOBP, MON1A, MORC1, MORC1-AS1, MRAS, MRPL3, MRPL47, MRPS22, MRPS25, MSL2, MST1, MST1R, MTMR14, MUC13, MUC20, MUC4, MUSTN1, MYD88, MYH15, MYL3, MYLK, MYNN, MYRIP, NAA50, NAA80, NAALADL2, NBEAL2, NCBP2, NCEH1, NCK1, NCKIPSD, NDUFAF3, NDUFB4, NDUFB5, NECTIN3, NECTIN3-AS1, NEK10, NEK11, NEK4, NEPRO, NFKBIZ, NGLY1, NICN1, NISCH, NIT2, NKIRAS1, NKTR, NLGN1, NMD3, NME6, NME9, NMNAT3, NPCDR1, NPHP3, NPRL2, NR1D2, NR1I2, NR2C2, NRROS, NSUN3, NT5DC2, NUDT16, NUP210, NXPE3, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL10, OSBPL11, OSTN, OTOL1, OXNAD1, OXSM, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, P2RY14, P3H2, P4HTM, PAK2, PAQR9, PARL, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCCB, PCNP, PCOLCE2, PCYT1A, PDCD10, PDCD6IP, PDE12, PDHB, PDIA5, PDZRN3, PEX5L, PFKFB4, PFN2, PHC3, PHF7, PHLDB2, PIGX, PIGZ, PIK3CA, PIK3CB, PIK3R4, PLA1A, PLAAT1, PLCD1, PLCH1, PLCL2, PLCXD2, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PLXNA1, PLXNB1, PLXND1, POC1A, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, POU1F1, PP2D1, PPARG, PPM1L, PPM1M, PPP1R2, PPP2R3A, PPP4R2, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PROK2, PROS1, PRR23A, PRR23B, PRR23C, PRRT3, PRSS50, PSMD2, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PXYLP1, PYDC2, QARS1, QRICH1, QTRT2, RAB43, RAB5A, RAB6B, RAB7A, RABL3, RAD18, RAD54L2, RAF1, RAP2B, RARB, RARRES1, RASA2, RASSF1, RBM15B, RBM5, RBM6, RBMS3, RBP1, RBP2, RBSN, RETNLB, RFC4, RFT1, RFTN1, RHO, RHOA, RIOX2, RNF123, RNF13, RNF168, RNF7, ROBO1, ROBO2, ROPN1, ROPN1B, RPL14, RPL15, RPL22L1, RPL24, RPL29, RPL32, RPL35A, RPL39L, RPN1, RPP14, RPSA, RPUSD3, RRP9, RSRC1, RTP1, RTP2, RTP3, RTP4, RUBCN, RUVBL1, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCHIP1, SCN10A, SCN11A, SCN5A, SEC13, SEC22A, SEC22C, SEC61A1, SEC62, SELENOK, SELENOT, SEMA3B, SEMA3F, SEMA3F-AS1, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERP1, SERPINI1, SERPINI2, SETD2, SETD5, SETMAR, SFMBT1, SGO1, SH3BP5, SHISA5, SHOX2, SHQ1, SI, SIAH2, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A20, SLC25A36, SLC25A38, SLC26A6, SLC2A2, SLC33A1, SLC35A5, SLC35G2, SLC38A3, SLC41A3, SLC49A4, SLC4A7, SLC51A, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SMARCC1, SMC4, SMCO1, SMIM4, SNORA62, SNORA63, SNORA81, SNRK, SNTN, SNX4, SOX14, SOX2, SOX2-OT, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SPTSSB, SRGAP3, SRPRB, SS18L2, SSR3, SST, SSUH2, ST3GAL6, ST6GAL1, STAB1, STAC, STAG1, STIMATE, STIMATE-MUSTN1, STT3B, STX19, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, SYN2, SYNPR, TADA3, TAFA1, TAFA4, TAGLN3, TAMM41, TASOR, TATDN2, TBC1D23, TBC1D5, TBCCD1, TBL1XR1, TCAIM, TCTA, TDGF1, TERC, TEX264, TEX55, TF, TFDP2, TFG, TFRC, TGFBR2, TGM4, THOC7, THPO, THRB, THUMPD3, TIGIT, TIMMDC1, TIMP4, TIPARP, TKT, TLR9, TM4SF1, TM4SF18, TM4SF19, TM4SF4, TMA7, TMCC1, TMEM108, TMEM115, TMEM158, TMEM207, TMEM212, TMEM39A, TMEM40, TMEM41A, TMEM42, TMEM43, TMEM44, TMEM45A, TMEM89, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TNK2-AS1, TNNC1, TOMM70, TOP2B, TOPAZ1, TOPBP1, TP63, TPRA1, TPRG1, TRA2B, TRAIP, TRAK1, TRANK1, TRAT1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TSC22D2, TSEN2, TTC14, TTC21A, TTLL3, TUSC2, TWF2, TXNRD3, TXNRD3NB, U2SURP, UBA3, UBA5, UBA7, UBE2E1, UBE2E2, UBP1, UBXN7, UCN2, ULK4, UMPS, UPK1B, UQCRC1, UROC1
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000442400
17.
GRCh37:
Chr3:119749810-122459323
See casesLikely pathogenic
(Jan 20, 2016)
criteria provided, single submitterVCV000253332
18.
GRCh37:
Chr3:122060289
GRCh38:
Chr3:122341442
CSTAR58*Peeling skin syndrome 4Pathogenic
(Jun 1, 2015)
no assertion criteria providedVCV000208473
19.
GRCh37:
Chr3:122044203
GRCh38:
Chr3:122325356
CSTAK22*Peeling skin syndrome 4, not providedPathogenic
(Feb 14, 2019)
criteria provided, single submitterVCV000208472
20.
GRCh37:
Chr3:118392745-126259573
GRCh38:
Chr3:118673898-126540730
See casesPathogenic
(Dec 3, 2013)
no assertion criteria providedVCV000155628
21.
GRCh37:
Chr3:93519464-145413168
GRCh38:
Chr3:93800620-145695381
IFT122, IFT57, IGSF11, IGSF11-AS1, IL20RB, IL20RB-AS1, ILDR1, IMPG2, IQCB1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, KY, LINC00488, LINC00635, LINC00636, LINC00879, LINC00882, LINC00901, LINC00903, LINC01205, LINC01210, LINC01215, LINC01279, LINC01391, LINC01471, LINC01565, LINC01990, LINC02000, LINC02004, LINC02014, LINC02016, LINC02021, LINC02024, LINC02035, LINC02042, LINC02044, LINC02049, LINC02085, LINC02614, LINC02618, LNP1, LOC100289361, LOC100507389, LOC101926968, LOC101929411, LOC101929579, LOC105374042, LOC105374060, LOC105374312, LOC108004531, LOC108004532, LOC108192211, LOC108281117, LOC108644431, LOC110120612, LOC110120613, LOC110120614, LOC110120631, LOC110120732, LOC110120785, LOC110121113, LOC110121116, LOC110121175, LOC110121187, LOC110121244, LOC111255649, LOC111365173, LOC111365202, LOC111556160, LOC111562374, LOC111828514, LOC112841610, LOC112841611, LOC112848341, LOC112848343, LOC112848344, LOC112872290, LOC112872291, LOC112872292, LOC112872293, LOC112872294, LOC112872295, LOC112872296, LOC112872297, LOC112872298, LOC112872299, LOC112872300, LOC112872301, LOC112872302, LOC112872303, LOC112872304, LOC112903835, LOC112903836, LOC112903837, LOC112903838, LOC112903839, LOC112903840, LOC112903842, LOC112935964, LOC112935965, LOC112935966, LOC115995515, LOC115995516, LOC115995517, LOC115995518, LOC115995519, LOC115995520, LOC115995521, LOC115995522, LOC115995523, LOC115995524, LOC115995525, LOC115995526, LOC117011629, LOC117038769, LOC117038770, LOC117038771, LOC117038772, LOC117038773, LOC117038774, LOC121009683, LOC121009684, LOC121009685, LOC121045485, LOC121045486, LOC121048709, LOC121048710, LOC121048711, LOC121048712, LOC121048713, LOC121048714, LOC121048715, LOC121048716, LOC90246, LRRC58, LRRC58-DT, LSAMP, LSAMP-AS1, MBD4, MCM2, MGLL, MIR12124, MIR198, MIR3921, MIR4445, MIR4446, MIR4447, MIR4788, MIR4796, MIR5002, MIR5092, MIR544B, MIR548AB, MIR548I1, MIR567, MIR568, MIR5682, MIR5704, MIR6083, MIR6529, MIR6825, MIR6826, MIR6827, MIR7110, MIR7976, MIR8060, MIR8076, MIR9900, MIX23, MORC1, MORC1-AS1, MRAS, MRPL3, MRPS22, MSL2, MUC13, MYH15, MYLK, MYLK-AS1, MYLK-AS2, NAA50, NCK1, NCK1-DT, NDUFB4, NECTIN3, NECTIN3-AS1, NEK11, NEPRO, NFKBIZ, NIT2, NME9, NMNAT3, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NR1I2, NSUN3, NUDT16, NUDT16-DT, NXPE3, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K2, OR5K3, OR5K4, OSBPL11, PAQR9, PAQR9-AS1, PARP14, PARP15, PARP9, PCCB, PCNP, PCOLCE2, PDIA5, PHLDB2, PIK3CB, PIK3R4, PISRT1, PLA1A, PLCXD2, PLCXD2-AS1, PLS1, PLXNA1, PLXND1, PODXL2, POGLUT1, POLQ, POPDC2, PPP2R3A, PROS1, PRR20G, PRR23A, PRR23B, PRR23C, PXYLP1, QTRT2, RAB43, RAB6B, RAB7A, RABL3, RASA2, RBP1, RBP2, RER, RETNLB, RHO, RIOX2, RNF7, ROPN1, ROPN1B, RPL24, RPN1, RUVBL1, RUVBL1-AS1, RYK, SEC22A, SEC61A1, SEMA5B, SENP7, SIDT1, SLC12A8, SLC15A2, SLC25A36, SLC35A5, SLC35G2, SLC41A3, SLC49A4, SLC9A9, SLC9A9-AS1, SLC9C1, SLCO2A1, SNORA58, SNORA7B, SNORD155, SNX4, SOX14, SPICE1, SPSB4, SRPRB, ST3GAL6, ST3GAL6-AS1, STAG1, STX19, STXBP5L, TAGLN3, TBC1D23, TBILA, TEX55, TF, TFDP2, TFG, TIGIT, TIMMDC1, TMCC1, TMCC1-DT, TMEM108, TMEM108-AS1, TMEM39A, TMEM45A, TMPRSS7, TOMM70, TOPBP1, TPRA1, TRAT1, TRC-GCA6-1, TRC-GCA9-1, TRH, TRIM42, TRMT10C, TRPC1, TUSC7, TXNRD3, TXNRD3NB, U2SURP, UBA5, UMPS, UPK1B, UROC1, USF3, WDR5B, WDR5B-DT, XRN1, ZBED2, ZBTB11, ZBTB11-AS1, ZBTB20, ZBTB20-AS1, ZBTB20-AS3, ZBTB20-AS4, ZBTB20-AS5, ZBTB38, ZDHHC23, ZNF148, ZNF80, ZPLD1, ZXDC, A4GNT, ABHD10, ABI3BP, ABTB1, ACAD11, ACAD9, ACKR4, ACP3, ADCY5, ADGRG7, ADPRH, ALCAM, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L2, AMOTL2, ANAPC13, ARGFX, ARHGAP31, ARHGAP31-AS1, ARL13B, ARL6, ARMC8, ASTE1, ATG3, ATP1B3, ATP2C1, ATP6V1A, ATR, B4GALT4, B4GALT4-AS1, BBX, BFSP2, BFSP2-AS1, BOC, BPESC1, BTLA, C3orf22, C3orf36, C3orf52, C3orf56, C3orf85, CASR, CBLB, CCDC14, CCDC191, CCDC54, CCDC80, CD200, CD200R1, CD200R1L, CD200R1L-AS1, CD47, CD80, CD86, CD96, CDV3, CEP63, CEP70, CEP97, CFAP100, CFAP100-DT, CFAP44, CFAP44-AS1, CFAP91, CFAP92, CHCHD6, CHST13, CHST2, CIP2A, CLDN18, CLDND1, CLSTN2, CLSTN2-AS1, CMSS1, CNBP, COL6A5, COL6A6, COL8A1, COPB2, COPB2-DT, COPG1, COX17, CPNE4, CPOX, CRYBG3, CSTA, DBR1, DCBLD2, DHFR2, DIPK2A, DNAJB8, DNAJB8-AS1, DNAJC13, DPPA2, DPPA4, DRD3, DTX3L, DUBR, DZIP1L, DZIP3, EAF2, EEFSEC, EFCAB12, EFCC1, EPHA6, EPHB1, ESYT3, FAIM, FAM162A, FBXO40, FILIP1L, FOXL2, FOXL2NB, FSTL1, GABRR3, GAP43, GATA2, GATA2-AS1, GCSAM, GK5, GOLGB1, GP9, GPR15, GPR156, GRAMD1C, GRK7, GSK3B, GTF2E1, GTPBP8, GUCA1C, H1-10, H1-10-AS1, H1-8, HACD2, HCLS1, HEG1, HGD, HHLA2, HMCES, HP09053, HSPBAP1
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000154258
22.
GRCh37:
Chr3:113841409-124251221
GRCh38:
Chr3:114122562-124532374
See casesPathogenic
(Aug 19, 2013)
no assertion criteria providedVCV000153722
23.
GRCh37:
Chr3:121643994-126501092
GRCh38:
Chr3:121925147-126782249
See casesPathogenic
(Dec 17, 2012)
no assertion criteria providedVCV000152210
24.
GRCh37:
Chr3:112339824-128452977
GRCh38:
Chr3:112620977-128734134
ABTB1, ADCY5, ADPRH, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ARGFX, ARHGAP31, ARHGAP31-AS1, ATP6V1A, B4GALT4, B4GALT4-AS1, BOC, C3orf22, C3orf56, CASR, CCDC14, CCDC191, CCDC80, CD200R1, CD200R1L, CD200R1L-AS1, CD80, CD86, CFAP100, CFAP100-DT, CFAP44, CFAP44-AS1, CFAP91, CHCHD6, CHST13, COX17, CSTA, DNAJB8, DNAJB8-AS1, DRD3, DTX3L, EAF2, EEFSEC, FAM162A, FBXO40, FSTL1, GAP43, GATA2, GATA2-AS1, GOLGB1, GPR156, GRAMD1C, GSK3B, GTF2E1, GTPBP8, HACD2, HCLS1, HEG1, HGD, HSPBAP1, IGSF11, IGSF11-AS1, ILDR1, IQCB1, ITGB5, KALRN, KBTBD12, KLF15, KPNA1, LINC00901, LINC00903, LINC01471, LINC01565, LINC02016, LINC02024, LINC02035, LINC02042, LINC02044, LINC02049, LINC02614, LOC101926968, LOC105374060, LOC105374312, LOC108004532, LOC108192211, LOC110120631, LOC110121175, LOC110121187, LOC111255649, LOC111365173, LOC111562374, LOC111828514, LOC112848343, LOC112848344, LOC112872290, LOC112872291, LOC112872292, LOC112872293, LOC112872294, LOC112872295, LOC112872296, LOC112872297, LOC112872298, LOC115995517, LOC115995518, LOC115995519, LOC115995520, LOC115995521, LOC117011629, LOC117038769, LOC117038770, LOC117038771, LOC117038772, LOC121009684, LOC121009685, LOC121045485, LOC121045486, LOC90246, LRRC58, LRRC58-DT, LSAMP, LSAMP-AS1, MCM2, MGLL, MIR198, MIR4446, MIR4447, MIR4796, MIR5002, MIR5092, MIR544B, MIR548I1, MIR568, MIR5682, MIR6083, MIR6529, MIR6825, MIR7110, MIR7976, MIR8076, MIR9900, MIX23, MUC13, MYLK, MYLK-AS1, MYLK-AS2, NAA50, NDUFB4, NEPRO, NR1I2, OSBPL11, PARP14, PARP15, PARP9, PDIA5, PLA1A, PLXNA1, PODXL2, POGLUT1, POLQ, POPDC2, PRR20G, QTRT2, RAB7A, RABL3, ROPN1, ROPN1B, RPN1, RUVBL1, RUVBL1-AS1, SEC22A, SEC61A1, SEMA5B, SIDT1, SLC12A8, SLC15A2, SLC41A3, SLC49A4, SNORD155, SNX4, SPICE1, STXBP5L, TEX55, TIGIT, TIMMDC1, TMEM39A, TPRA1, TUSC7, TXNRD3, TXNRD3NB, UMPS, UPK1B, UROC1, USF3, WDR5B, WDR5B-DT, ZBTB20, ZBTB20-AS1, ZBTB20-AS3, ZBTB20-AS4, ZBTB20-AS5, ZDHHC23, ZNF148, ZNF80, ZXDC
See casesPathogenic
(May 14, 2012)
no assertion criteria providedVCV000150138
25.
GRCh37:
Chr3:114737921-122232245
GRCh38:
Chr3:115019074-122513398
See casesPathogenic
(Nov 30, 2009)
no assertion criteria providedVCV000146711
26.
GRCh37:
Chr3:103145726-197837049
GRCh38:
Chr3:103426882-198110178
A4GNT, AADAC, AADACL2, AADACL2-AS1, ABCC5, ABCC5-AS1, ABCF3, ABHD10, ABTB1, ACAD11, ACAD9, ACAP2, ACKR4, ACP3, ACTL6A, ACTRT3, ADCY5, ADIPOQ, ADIPOQ-AS1, ADPRH, AGTR1, AHSG, ALCAM, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L2, ALG3, AMOTL2, ANAPC13, ANKUB1, AP2M1, APOD, ARGFX, ARHGAP31, ARHGAP31-AS1, ARHGEF26, ARHGEF26-AS1, ARL14, ARMC8, ASTE1, ATG3, ATP11B, ATP11B-DT, ATP13A3, ATP13A3-DT, ATP13A4, ATP13A4-AS1, ATP13A5, ATP13A5-AS1, ATP1B3, ATP2C1, ATP6V1A, ATR, B3GALNT1, B3GNT5, B4GALT4, B4GALT4-AS1, BBX, BCHE, BCL6, BDH1, BFSP2, BFSP2-AS1, BOC, BPESC1, BTLA, C3orf22, C3orf33, C3orf36, C3orf52, C3orf56, C3orf70, C3orf80, C3orf85, CAMK2N2, CASR, CBLB, CCDC14, CCDC191, CCDC39, CCDC50, CCDC54, CCDC80, CCNL1, CD200, CD200R1, CD200R1L, CD200R1L-AS1, CD47, CD80, CD86, CD96, CDV3, CEP19, CEP63, CEP70, CFAP100, CFAP100-DT, CFAP44, CFAP44-AS1, CFAP91, CFAP92, CHCHD6, CHRD, CHST13, CHST2, CIP2A, CLCN2, CLDN1, CLDN11, CLDN16, CLDN18, CLRN1, CLRN1-AS1, CLSTN2, CLSTN2-AS1, CNBP, COL6A5, COL6A6, COMMD2, COPB2, COPB2-DT, COPG1, COX17, CP, CPA3, CPB1, CPN2, CPNE4, CRYGS, CSTA, DBR1, DCUN1D1, DGKG, DHX36, DIPK2A, DLG1, DLG1-AS1, DNAJB11, DNAJB8, DNAJB8-AS1, DNAJC13, DNAJC19, DPPA2, DPPA4, DRD3, DTX3L, DUBR, DVL3, DYNLT2B, DZIP1L, DZIP3, EAF2, ECE2, ECT2, EEF1AKMT4, EEF1AKMT4-ECE2, EEFSEC, EFCAB12, EFCC1, EHHADH, EHHADH-AS1, EIF2A, EIF2B5, EIF2B5-DT, EIF4A2, EIF4G1, EIF5A2, EPHB1, EPHB3, ERICH6, ERICH6-AS1, ESYT3, ETV5, FAIM, FAM131A, FAM162A, FAM43A, FBXO40, FBXO45, FETUB, FGF12, FGF12-AS1, FGF12-AS2, FGF12-AS3, FLJ42393, FNDC3B, FOXL2, FOXL2NB, FSTL1, FXR1, FYTTD1, GAP43, GATA2, GATA2-AS1, GCSAM, GFM1, GHSR, GK5, GMNC, GMPS, GNB4, GOLGB1, GOLIM4, GP5, GP9, GPR149, GPR156, GPR160, GPR171, GPR87, GRAMD1C, GRK7, GSK3B, GTF2E1, GTPBP8, GUCA1C, GYG1, H1-10, H1-10-AS1, H1-8, HACD2, HCLS1, HEG1, HES1, HGD, HHLA2, HLTF, HLTF-AS1, HMCES, HPS3, HRG, HSPBAP1, HTR3C, HTR3D, HTR3E, HTR3E-AS1, IFT122, IFT57, IFT80, IGF2BP2, IGF2BP2-AS1, IGSF10, IGSF11, IGSF11-AS1, IL12A, IL12A-AS1, IL1RAP, IL20RB, IL20RB-AS1, ILDR1, IQCB1, IQCG, IQCJ, IQCJ-SCHIP1, IQCJ-SCHIP1-AS1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KCNAB1, KCNAB1-AS1, KCNAB1-AS2, KCNMB2, KCNMB2-AS1, KCNMB3, KLF15, KLHL24, KLHL6, KLHL6-AS1, KNG1, KPNA1, KPNA4, KY, LAMP3, LEKR1, LINC00488, LINC00501, LINC00578, LINC00635, LINC00636, LINC00880, LINC00881, LINC00882, LINC00885, LINC00886, LINC00887, LINC00888, LINC00901, LINC00903, LINC01014, LINC01063, LINC01100, LINC01192, LINC01205, LINC01206, LINC01208, LINC01209,