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Items: 35

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GHRLGHRELIN POLYMORPHISMBenign
(Jun 1, 2002)
no assertion criteria provided
2.
GRCh37:
Chr3:10328453
GRCh38:
Chr3:10286769
GHRL, GHRLOSObesityrisk factor
(Jun 1, 2002)
no assertion criteria provided
3.
GRCh37:
Chr3:10331457
GRCh38:
Chr3:10289773
GHRL, GHRLOSMetabolic syndrome, susceptibility to, Obesity, age at onset ofPathogenic, risk factor
(Dec 1, 2005)
no assertion criteria provided
4.
GRCh37:
Chr3:10331519
GRCh38:
Chr3:10289835
GHRL, GHRLOSObesity, Metabolic syndrome, susceptibility torisk factor
(Dec 1, 2005)
no assertion criteria provided
5.
GRCh37:
Chr3:5173870-16760262
not providedPathogenic
(Oct 20, 2017)
no assertion criteria provided
6.
GRCh37:
Chr3:1897972-19519085
not providedPathogenic
(Oct 9, 2017)
no assertion criteria provided
7.
GRCh37:
Chr3:61891-37459464
See casesPathogenic
(Jun 22, 2015)
no assertion criteria provided
8.
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, FAM208A, 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, HRASLS, 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, DIRC2, 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, FAM19A4, SGO1, PP2D1, EFHB, PPM1L, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, PQLC2L, ZCWPW2, CMC1, NEK10, C3orf79, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, C3orf30, 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, PRSS42, 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, PRSS45, 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, FAM19A1, STX19, TMEM89, IQCF6, SMIM4, ARGFX, TMPPE, ALG1L2, TXNRD3NB, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, TMEM183B, IQCJ, SNORA81, MIR570, GXYLT2, FAM198A, CCR2, PRR23A, PRSS44, ESRG, EGOT, GHRLOS, TNK2-AS1, SEMA3F-AS1, ZNF717, MIR1224, FRG2C, PRSS43, IQCJ-SCHIP1, FGD5-AS1, KRBOX1, KRBOX1-AS1, MORC1-AS1, NECTIN3-AS1, IGSF11-AS1, FOXP1-IT1, ARPC4-TTLL3, TMEM110-MUSTN1, ISY1-RAB43
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
9.
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, FAM208A, 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, HRASLS, 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, DIRC2, 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, FAM19A4, SGO1, PP2D1, EFHB, PPM1L, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, PQLC2L, ZCWPW2, CMC1, NEK10, C3orf79, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, C3orf30, 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, PRSS42, 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, PRSS45, 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, FAM19A1, STX19, TMEM89, IQCF6, SMIM4, ARGFX, TMPPE, ALG1L2, TXNRD3NB, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, TMEM183B, IQCJ, SNORA81, MIR570, GXYLT2, FAM198A, CCR2, PRR23A, PRSS44, ESRG, EGOT, GHRLOS, TNK2-AS1, SEMA3F-AS1, ZNF717, MIR1224, FRG2C, PRSS43, IQCJ-SCHIP1, FGD5-AS1, KRBOX1, KRBOX1-AS1, MORC1-AS1, NECTIN3-AS1, IGSF11-AS1, FOXP1-IT1, ARPC4-TTLL3, TMEM110-MUSTN1, ISY1-RAB43
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
10.
GRCh37:
Chr3:61891-12575409
See casesPathogenic
(Apr 22, 2014)
no assertion criteria provided
11.
GRCh37:
Chr3:61891-33958201
See casesPathogenic
(Feb 24, 2015)
no assertion criteria provided
12.
GRCh37:
Chr3:61891-24432821
See casesPathogenicno assertion criteria provided
13.
GRCh37:
Chr3:61891-36710181
See casesPathogenicno assertion criteria provided
14.
GRCh37:
Chr3:8922160-12338637
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr3:7397797-14401942
GRCh38:
Chr3:7356110-14360442
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
16.
GRCh37:
Chr3:730581-11092828
GRCh38:
Chr3:688897-11051142
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
17.
GRCh37:
Chr3:73914-10364808
GRCh38:
Chr3:32241-10323124
See casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
18.
GRCh37:
Chr3:73914-10672995
GRCh38:
Chr3:32241-10631310
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
19.
GRCh37:
Chr3:10262646-11207135
GRCh38:
Chr3:10220962-11165449
See casesUncertain significance
(Jul 18, 2014)
no assertion criteria provided
20.
GRCh37:
Chr3:94991-41423012
GRCh38:
Chr3:53308-41381521
ACAA1, ACVR2B, ATP2B2, BTD, CAV3, ENTPD3, CCR4, CCR8, CTNNB1, CX3CR1, DAZL, FANCD2, FBLN2, GLB1, GOLGA4, GRM7, HRH1, IL5RA, IRAK2, ITGA9, ITPR1, RPSA, MLH1, MOBP, MYD88, OGG1, OXTR, PLCD1, PPARG, RAB5A, RAF1, RARB, SNORA62, RPL15, RPL32, SATB1, SCN5A, SCN10A, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, STAC, SYN2, TGFBR2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, UBP1, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, RPL14, LRRFIP2, SLC22A14, SLC22A13, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, EPM2AIP1, TRANK1, SRGAP3, IQSEC1, DLEC1, EXOG, XYLB, OXSR1, NR1D2, PDCD6IP, ARPC4, CTDSPL, EIF1B, TADA3, CRTAP, ATG7, CHL1, ARPP21, SCN11A, CAND2, CLASP2, GPD1L, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, FBXL2, CNOT10, THUMPD3, MYRIP, SUSD5, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, VILL, SSUH2, TRNT1, DYNC1LI1, CRBN, CCDC174, GHRL, CMTM6, SLC25A38, ULK4, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, WDR48, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CSRNP1, GORASP1, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, DCLK3, OXNAD1, CMTM7, OSBPL10, FANCD2OS, LRRC3B, GALNT15, KCNH8, TRIM71, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, LOC152048, ZCWPW2, CMC1, NEK10, CMTM8, FGD5, LINC02011, CNTN4, XIRP1, TTC21A, STT3B, ZNF620, ENTPD3-AS1, ZNF619, ZNF621, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, C3orf35, GADL1, ZNF860, LHFPL4, LOC401052, MIR128-2, MIR26A1, THUMPD3-AS1, EIF1B-AS1, EMC3-AS1, SNORA6, SNORA7A, TMPPE, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, ACVR2B-AS1, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR466, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, OSBPL10-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-DT, LINC00690, LINC01981, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, LINC01985, LINC01811, LOC101928135, ITGA9-AS1, MIR548AY, MIR6822, GRM7-AS2, LINC02022, LOC105376975, RARB-AS1, LINC02084, LINC01980, LINC02033, SNORA93, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111365150, LOC111365223, LOC111429626, LOC111465007, LOC111465009, LOC111501778, LOC111501788
See casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
21.
GRCh37:
Chr3:61891-11263288
GRCh38:
Chr3:20213-11221602
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
22.
GRCh37:
Chr3:73914-13655318
GRCh38:
Chr3:32241-13613818
See casesPathogenic
(Aug 2, 2012)
no assertion criteria provided
23.
GRCh37:
Chr3:73914-11421309
GRCh38:
Chr3:32241-11379835
See casesPathogenic
(Jul 11, 2011)
no assertion criteria provided
24.
GRCh37:
Chr3:73914-12722982
GRCh38:
Chr3:32241-12681483
See casesPathogenic
(Feb 10, 2012)
no assertion criteria provided
25.
GRCh37:
Chr3:73914-30105699
GRCh38:
Chr3:32241-30064208
ATP2B2, BTD, CAV3, DAZL, FANCD2, FBLN2, GRM7, HRH1, IL5RA, IRAK2, ITPR1, OGG1, OXTR, PPARG, RAB5A, RAF1, RARB, RPL15, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, SYN2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, SRGAP3, IQSEC1, NR1D2, ARPC4, TADA3, ATG7, CHL1, CAND2, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, THUMPD3, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, SSUH2, TRNT1, CRBN, CCDC174, GHRL, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, OXNAD1, FANCD2OS, LRRC3B, GALNT15, KCNH8, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, ZCWPW2, CMC1, NEK10, FGD5, LINC02011, CNTN4, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, LHFPL4, LOC401052, THUMPD3-AS1, EMC3-AS1, SNORA7A, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-DT, LINC00690, LINC01981, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, GRM7-AS2, LINC02022, LOC105376975, RARB-AS1, LINC02084, LINC01980, SNORA93, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365223, LOC111429626, LOC111465009, LOC111501788
See casesPathogenic
(Dec 16, 2011)
no assertion criteria provided
26.
GRCh37:
Chr3:73914-20375879
GRCh38:
Chr3:32241-20334387
See casesPathogenic
(Nov 11, 2011)
no assertion criteria provided
27.
GRCh37:
Chr3:9917593-10614361
GRCh38:
Chr3:9875909-10572677
See casesPathogenic
(Sep 12, 2011)
no assertion criteria provided
28.
GRCh37:
Chr3:9436558-11732086
GRCh38:
Chr3:9394874-11690612
See casesPathogenic
(Apr 21, 2011)
no assertion criteria provided
29.
GRCh37:
Chr3:8017421-12678416
GRCh38:
Chr3:7975734-12636917
See casesLikely pathogenic
(Aug 5, 2011)
no assertion criteria provided
30.
GRCh37:
Chr3:8080414-11282617
GRCh38:
Chr3:8038727-11240931
See casesLikely pathogenic
(Feb 18, 2011)
no assertion criteria provided
31.
GRCh37:
Chr3:105526-19552092
GRCh38:
Chr3:63843-19510600
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr3:93749-20321619
GRCh38:
Chr3:52066-20280127
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr3:10061464-12292857
GRCh38:
Chr3:10019780-12251358
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr3:93949-11131255
GRCh38:
Chr3:52266-11089569
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr3:93949-37189567
GRCh38:
Chr3:52266-37148076
ATP2B2, BTD, CAV3, CCR4, DAZL, FANCD2, FBLN2, GLB1, GRM7, HRH1, IL5RA, IRAK2, ITPR1, MLH1, OGG1, OXTR, PPARG, RAB5A, RAF1, RARB, RPL15, RPL32, SATB1, SEC13, SETMAR, SLC6A1, SLC6A6, SLC6A11, STAC, SYN2, TGFBR2, THRB, TIMP4, TOP2B, NR2C2, UBE2E1, UBE2E2, UBP1, VHL, WNT7A, XPC, BRPF1, COLQ, EOMES, CAMK1, BHLHE40, KAT2B, LRRFIP2, SH3BP5, SLC4A7, VGLL4, EDEM1, TBC1D5, TATDN2, EPM2AIP1, TRANK1, SRGAP3, IQSEC1, NR1D2, PDCD6IP, ARPC4, TADA3, CRTAP, ATG7, CHL1, ARPP21, CAND2, CLASP2, GPD1L, RFTN1, NUP210, PLCL2, ANKRD28, CAPN7, MKRN2, FBXL2, CNOT10, THUMPD3, SUSD5, HACL1, TTLL3, CNTN6, LSM3, RBMS3, NKIRAS1, LINC00312, LMCD1, SSUH2, TRNT1, DYNC1LI1, CRBN, CCDC174, GHRL, CMTM6, OXSM, ARL8B, SETD5, TMEM40, NGLY1, EMC3, BRK1, RAD18, LRRN1, CIDEC, RBSN, AZI2, MTMR14, MRPS25, CRELD1, TMEM43, ZNF385D, HDAC11, TSEN2, GRIP2, C3orf20, JAGN1, LINC00852, IL17RC, EAF1, DCLK3, OXNAD1, CMTM7, OSBPL10, FANCD2OS, LRRC3B, GALNT15, KCNH8, TRIM71, CHCHD4, METTL6, TAMM41, IL17RE, SGO1, PP2D1, EFHB, CPNE9, LINC00691, ZCWPW2, CMC1, NEK10, CMTM8, FGD5, LINC02011, CNTN4, STT3B, LINC00692, SUMF1, RPUSD3, PRRT3, LINC00606, LINC00620, DPH3, LOC339862, GADL1, ZNF860, LHFPL4, LOC401052, MIR128-2, THUMPD3-AS1, EMC3-AS1, SNORA7A, TMPPE, THRB-AS1, LINC00693, MIR563, MIR885, EGOT, GHRLOS, MKRN2OS, LOC100130207, LMCD1-AS1, SRGAP3-AS3, MIR4270, MIR3135A, MIR378B, MIR3134, MIR466, MIR3714, FGD5-AS1, SH3BP5-AS1, UBE2E2-AS1, BHLHE40-AS1, ARPC4-TTLL3, MIR4791, MIR4790, MIR4792, MIR4442, GRM7-AS1, CNTN4-AS1, CNTN4-AS2, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, SGO1-AS1, PRRT3-AS1, SLC6A1-AS1, UBE2E1-AS1, HDAC11-AS1, OSBPL10-AS1, ZNF385D-AS1, ZNF385D-AS2, ATP2B2-IT2, ITPR1-DT, LINC00690, LINC01981, CHL1-AS2, CHL1-AS1, LINC01266, GRM7-AS3, LOC101927394, SRGAP3-AS2, SRGAP3-AS4, LINC01267, SATB1-AS1, LOC101927829, LOC101927854, LINC01985, LINC01811, LOC101928135, MIR548AY, GRM7-AS2, LINC02022, LOC105376975, RARB-AS1, LINC02084, LINC01980, LINC02033, SNORA93, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365150, LOC111365223, LOC111429626, LOC111465009, LOC111501778, LOC111501788
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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