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Items: 41

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:113847615
GRCh38:
Chr3:114128768
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr3:113847689
GRCh38:
Chr3:114128842
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr3:113849984
GRCh38:
Chr3:114131137
DRD3Hereditary Essential TremorLikely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr3:113850150
GRCh38:
Chr3:114131303
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr3:113858350
GRCh38:
Chr3:114139503
DRD3Hereditary Essential TremorLikely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr3:113858379
GRCh38:
Chr3:114139532
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr3:113878595
GRCh38:
Chr3:114159748
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr3:113878683
GRCh38:
Chr3:114159836
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr3:113890556
GRCh38:
Chr3:114171709
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr3:113890789
GRCh38:
Chr3:114171942
DRD3Hereditary Essential TremorLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr3:113890815
GRCh38:
Chr3:114171968
DRD3Schizophrenia, susceptibility to, Essential tremor, susceptibility to, Hereditary Essential Tremor
Likely benign, risk factor
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr3:113897506
GRCh38:
Chr3:114178659
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr3:113897573
GRCh38:
Chr3:114178726
DRD3Hereditary Essential TremorLikely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr3:113897582
GRCh38:
Chr3:114178735
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr3:113897621
GRCh38:
Chr3:114178774
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr3:113897720
GRCh38:
Chr3:114178873
DRD3Hereditary Essential TremorLikely benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr3:113897749
GRCh38:
Chr3:114178902
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr3:113897754
GRCh38:
Chr3:114178907
DRD3Hereditary Essential TremorLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr3:113897786
GRCh38:
Chr3:114178939
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr3:113897801
GRCh38:
Chr3:114178954
DRD3Hereditary Essential TremorLikely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr3:113897856
GRCh38:
Chr3:114179009
DRD3Hereditary Essential TremorUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr3:112590339-116461450
See casesPathogenic
(May 22, 2013)
no assertion criteria provided
23.
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, NAT6, 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, C3orf58, 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, FAM212A, 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
24.
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, NAT6, 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, C3orf58, 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, FAM212A, 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
25.
GRCh37:
Chr3:112144081-115514432
See casesPathogenicno assertion criteria provided
26.
GRCh37:
Chr3:105094834-117441953
See casesPathogenicno assertion criteria provided
27.
GRCh37:
Chr3:112239400-119749869
GRCh38:
Chr3:112520553-120031022
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
28.
GRCh37:
Chr3:93519464-145413168
GRCh38:
Chr3:93800620-145695381
ACPP, ADCY5, ADPRH, ALCAM, ATP1B3, ATP6V1A, ATR, FOXL2, CASR, CBLB, CD80, CD86, CD47, COL8A1, CPOX, CSTA, DRD3, EPHB1, GAP43, GATA2, GOLGB1, GP9, GPR15, GSK3B, GTF2E1, HCLS1, HGD, ITGB5, KPNA1, LSAMP, MCM2, CD200, MYLK, NCK1, NDUFB4, PCCB, PIK3CB, PLS1, PLXNA1, PPP2R3A, PROS1, RASA2, RBP1, RBP2, RHO, RPL24, RPN1, RYK, SLC15A2, SLCO2A1, TF, TFDP2, TRH, TRPC1, UPK1B, UMPS, CNBP, ZNF80, ZNF148, RAB7A, SOX14, BFSP2, RUVBL1, B4GALT4, SNX4, NR1I2, MBD4, H1FX, KALRN, COPB2, CHST2, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, TOMM70, COX17, CD96, STAG1, TFG, ST3GAL6, POLQ, ALDH1L1, PDIA5, TOPBP1, HHLA2, FSTL1, MRPL3, FILIP1L, MGLL, MRAS, COPG1, MYH15, TMCC1, PLXND1, DNAJC13, U2SURP, LINC01565, ANAPC13, ARMC8, NEPRO, ABI3BP, NECTIN3, ZBTB20, OR5K1, OR5H1, FAM162A, PCOLCE2, SEC22A, NPHP3, ATP2C1, ZBTB11, MORC1, ACAD9, ASTE1, KLF15, GTPBP8, TAGLN3, SEC61A1, PIK3R4, PODXL2, TRAT1, IMPG2, A4GNT, DBR1, CLDN18, TIMMDC1, PLA1A, AMOTL2, ACKR4, RAB6B, FBXO40, IL20RB, SEMA5B, XRN1, WDR5B, PARP14, GRAMD1C, ROPN1, SIDT1, TRMT10C, SLC41A3, SLC35A5, TMEM45A, IFT57, MSL2, FAIM, SLC25A36, DPPA4, TMEM39A, ABHD10, CDV3, IFT122, TBC1D23, CFAP44, EAF2, CLDND1, MUC13, HMCES, MRPS22, NIT2, POGLUT1, BBX, PCNP, SENP7, ISY1, HEG1, KIAA1257, ARHGAP31, CCDC191, CIP2A, SRPRB, BPESC1, EEFSEC, NSUN3, CLSTN2, POPDC2, NFKBIZ, ATG3, CCDC14, TMEM108, OR5H6, OR5H2, ZXDC, ZBED2, CEP97, HSPBAP1, C3orf52, QTRT2, EFCC1, NEK11, UBA5, C3orf36, NAA50, CEP63, CEP70, ABTB1, SLC35G2, OR5AC2, PARP9, ESYT3, ARL6, ACAD11, CHCHD6, CMSS1, SLC12A8, RETNLB, CCDC54, RIOX2, ADGRG7, DIRC2, BFSP2-AS1, MAATS1, PHLDB2, LOC90246, EFCAB12, BOC, NXPE3, SPSB4, PXYLP1, TXNRD3, OSBPL11, LRRC58, CPNE4, CCDC58, ZPLD1, CD200R1, CRYBG3, DCBLD2, TPRA1, UROC1, NUDT16, COL6A6, GRK7, H1FOO, PISRT1, DTX3L, LINC00635, DPPA2, CCDC80, BTLA, ROPN1B, C3orf22, SPICE1, LINC02085, IGSF11, C3orf30, PARP15, DNAJB8, GPR156, CHST13, KBTBD12, DZIP1L, ALG1L, ARL13B, DHFR2, GABRR3, HACD2, TIGIT, C3orf58, USF3, ZBTB38, ZDHHC23, LINC00879, COL6A5, GK5, PLCXD2, GCSAM, TUSC7, SLC9A9, LINC00636, EPHA6, DNAJB8-AS1, RABL3, C3orf56, SLC9C1, ILDR1, TRIM42, RAB43, KY, LOC339874, H1FX-AS1, DUBR, TMPRSS7, CD200R1L, PAQR9, NME9, LNP1, CFAP100, NPHP3-AS1, NMNAT3, PRR23B, PRR23C, C3orf85, LINC01205, FOXL2NB, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIR198, STX19, ARGFX, ALG1L2, TXNRD3NB, LOC646730, LINC00488, SNORA7B, SNORA58, MIR567, MIR568, PRR23A, ZBTB11-AS1, LOC100129297, LINC02035, ZBTB20-AS1, TRC-GCA6-1, TRC-GCA9-1, LOC100289361, MIR548I1, LINC00882, MIR544B, MIR3921, MORC1-AS1, NECTIN3-AS1, LINC01279, LINC00901, IGSF11-AS1, MYLK-AS1, CCDC37-AS1, TMCC1-AS1, LINC02000, LINC01210, LOC100507291, LOC100507389, NPHP3-ACAD11, ISY1-RAB43, MIR4445, MIR4796, MIR4788, MIR548AB, MIR4446, MIR4447, MIR5002, MIR5092, MIR5704, MIR5682, ALDH1L1-AS2, MYLK-AS2, CFAP44-AS1, RUVBL1-AS1, PLCXD2-AS1, ZBTB20-AS4, B4GALT4-AS1, ALDH1L1-AS1, ST3GAL6-AS1, ARHGAP31-AS1, SLC9A9-AS1, LSAMP-AS1, LOC101926968, LINC02049, LOC101927056, LINC02016, LINC01471, GATA2-AS1, TMEM108-AS1, NCK1-AS1, CLSTN2-AS1, PAQR9-AS1, HP09053, LOC101929411, LOC101929579, LINC01990, LINC01215, LINC02042, LINC02044, ZBTB20-AS5, MIR6083, MIR6826, MIR7110, MIR7976, MIR8060, MIR6825, MIR8076, MIR6827, LOC102723582, LINC01391, ZBTB20-AS3, LOC105374042, LINC02024, LOC105374060, LINC02021, LINC02014, LINC02004, LOC105374312, IL20RB-AS1
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
29.
GRCh37:
Chr3:112144081-115514432
GRCh38:
Chr3:112425234-115795585
See casesPathogenic
(Dec 3, 2013)
no assertion criteria provided
30.
GRCh37:
Chr3:113841409-124251221
GRCh38:
Chr3:114122562-124532374
See casesPathogenic
(Aug 19, 2013)
no assertion criteria provided
31.
GRCh37:
Chr3:112339824-128452977
GRCh38:
Chr3:112620977-128734134
See casesPathogenic
(May 14, 2012)
no assertion criteria provided
32.
GRCh37:
Chr3:112183941-115492958
GRCh38:
Chr3:112465094-115774111
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
33.
GRCh37:
Chr3:97514213-115382196
GRCh38:
Chr3:97795369-115663349
See casesPathogenic
(Feb 20, 2012)
no assertion criteria provided
34.
GRCh37:
Chr3:112183943-115492949
GRCh38:
Chr3:112465096-115774102
See casesLikely pathogenic
(Aug 5, 2011)
no assertion criteria provided
35.
GRCh37:
Chr3:93538467-116605903
GRCh38:
Chr3:93819623-116887056
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
36.
GRCh37:
Chr3:103145726-197837049
GRCh38:
Chr3:103426882-198110178
AADAC, ACPP, ACTL6A, ADCY5, ADPRH, AGTR1, AHSG, ALCAM, APOD, ATP1B3, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, CASR, CBLB, CD80, CD86, CD47, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, CSTA, DGKG, DLG1, DRD3, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB1, EPHB3, ETV5, MECOM, FGF12, GAP43, GATA2, GHSR, GOLGB1, GP5, GP9, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRG, HES1, IL1RAP, IL12A, ITGB5, KNG1, KPNA1, KPNA4, LPP, LSAMP, TM4SF1, MBNL1, MCM2, MELTF, MLF1, MME, CD200, MUC4, MYLK, NCK1, NDUFB4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCCB, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, POLR2H, PPP1R2, PPP2R3A, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, RPL35A, RPN1, RYK, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC15A2, SLCO2A1, HLTF, SOX2, SSR3, SST, TERC, TF, TFDP2, TFRC, THPO, SEC62, TM4SF4, TRH, TRPC1, UPK1B, UMPS, CLRN1, ZIC1, CNBP, ZNF80, ZNF148, RAB7A, KCNAB1, FXR1, SOX14, BFSP2, RUVBL1, TP63, CHRD, B4GALT4, B3GALNT1, SNX4, TNFSF10, GMPS, NR1I2, EIF2B5, MBD4, H1FX, USP13, KALRN, CLDN1, MAP3K13, SLC33A1, COPB2, ADIPOQ, CHST2, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, COX17, TNK2, ALG3, CD96, KCNMB2, STAG1, IGF2BP2, CLDN16, POLQ, ALDH1L1, PDIA5, TOPBP1, HHLA2, FSTL1, MRPL3, PDCD10, RNF13, MGLL, MRAS, COPG1, SLITRK3, NLGN1, NCBP2, MYH15, PLCH1, TMCC1, TNIK, MCF2L2, PLXND1, ATP11B, DNAJC13, U2SURP, VPS8, LINC01565, ACAP2, ANAPC13, ARMC8, NEPRO, WWTR1, NECTIN3, TIPARP, UBXN7, ARHGEF26, ZBTB20, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, KCNMB3, MORC1, SERP1, GOLIM4, ACAD9, ASTE1, KLF15, GTPBP8, TAGLN3, GPR171, SEC61A1, SCHIP1, PIK3R4, PODXL2, TRAT1, NMD3, COMMD2, A4GNT, DBR1, ZNF639, CLDN18, TIMMDC1, RSRC1, PLA1A, AMOTL2, ACKR4, PEX5L, RAB6B, SELENOT, FBXO40, DNAJB11, P2RY13, IL20RB, GPR87, DCUN1D1, SEMA5B, XRN1, WDR5B, PARP14, GRAMD1C, ROPN1, KLHL24, SIDT1, SLC41A3, PIGX, SLC35A5, IFT57, MSL2, TBCCD1, FAIM, SLC25A36, DPPA4, P3H2, TMEM39A, ABCF3, LSG1, ABHD10, PARL, CDV3, MFN1, YEATS2, IFT122, CFAP44, EAF2, MYNN, EIF5A2, MUC13, SUCNR1, MCCC1, LXN, HMCES, MRPS22, POGLUT1, BBX, CCNL1, PLSCR2, PLSCR4, HRASLS, MRPL47, ISY1, HEG1, KIAA1257, ARHGAP31, NCEH1, IFT80, CCDC191, CIP2A, SLC7A14, SRPRB, SENP2, GNB4, BPESC1, EEFSEC, CLSTN2, POPDC2, RTP4, MAGEF1, ZMAT3, ATG3, MFSD1, CCDC14, FNDC3B, P2RY12, TMEM108, ZXDC, ZBED2, ATP13A3, HSPBAP1, C3orf52, VEPH1, QTRT2, TBL1XR1, ZBBX, LRRC31, EFCC1, NEK11, UBA5, MAP6D1, PHC3, C3orf36, ARL14, NAA50, PIGZ, CEP63, CEP70, ABTB1, SLC35G2, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, ZIC4, ACAD11, IQCG, ATP13A4, FYTTD1, CHCHD6, HPS3, ACTRT3, SLC12A8, RETNLB, CCDC54, MGC2889, LRCH3, DIRC2, CEP19, BFSP2-AS1, GFM1, LMLN, KLHL6, MAATS1, PHLDB2, VWA5B2, LOC90246, EFCAB12, TMEM41A, BOC, SPSB4, PXYLP1, TMEM44, CAMK2N2, TXNRD3, OSBPL11, LRRC58, TM4SF19, TM4SF18, RPL39L, MED12L, CLRN1-AS1, CPNE4, CCDC58, DNAJC19, OTOL1, FAM131A, CD200R1, ZDHHC19, LRRC15, FAM43A, TPRA1, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, RTP1, H1FOO, PISRT1, TTC14, DTX3L, LINC00635, PPM1L, WDR49, LRRC34, DPPA2, CCDC80, BTLA, MB21D2, XXYLT1, ROPN1B, C3orf22, PQLC2L, C3orf79, CCDC50, PYDC2, SPICE1, NCBP2-AS2, IGSF11, C3orf30, PARP15, SPTSSB, DNAJB8, GPR156, RNF168, CHST13, KBTBD12, DHX36, HTR3C, DZIP1L, ALG1L, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, HACD2, TIGIT, C3orf58, SENP5, USF3, ZBTB38, LINC02052, NAALADL2, ZDHHC23, TCTEX1D2, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, TUSC7, SLC9A9, LINC00636, DNAJB8-AS1, HTR3E, RABL3, C3orf56, IGSF10, C3orf33, SLC9C1, C3orf70, TPRG1, LINC02028, ILDR1, TRIM59, TRIM42, RAB43, CCDC39, KY, LOC339874, LINC00880, EHHADH-AS1, LPP-AS2, H1FX-AS1, DUBR, LRRIQ4, SAMD7, AADACL2, GPR149, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, CFAP100, NPHP3-AS1, NMNAT3, NRROS, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, C3orf85, LINC01205, FOXL2NB, MBNL1-AS1, C3orf80, LINC01994, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR198, MIR28, LOC440982, MIR570HG, ARGFX, SNORD2, SNORA4, ALG1L2, TXNRD3NB, IGF2BP2-AS1, LOC646730, LOC646903, MINDY4B, LINC01192, GMNC, LINC02026, TMEM183B, IQCJ, SCARNA7, LINC00488, SNORA7B, SNORA58, SNORA81, SNORD66, MIR551B, MIR567, MIR568, MIR569, MIR570, PRR23A, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, LOC100129297, LINC02012, LINC02035, ZBTB20-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRC-GCA6-1, TRC-GCA9-1, TRV-AAC1-1, TIPARP-AS1, LOC100287290, LOC100289361, MIR1248, MIR1263, MIR548I1, LINC00882, MIR544B, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LINC02053, LINC00888, LINC02036, MORC1-AS1, NECTIN3-AS1, LINC01279, LINC00901, IGSF11-AS1, MYLK-AS1, CCDC37-AS1, TMCC1-AS1, MELTF-AS1, DLG1-AS1, LINC02000, LINC01210, LOC100507291, TMEM44-AS1, LOC100507389, LINC01968, LINC02032, ARHGEF26-AS1, DWORF, LINC02082, NPHP3-ACAD11, ISY1-RAB43, TM4SF19-TCTEX1D2, MIR4448, MIR4445, MIR4796, MIR4797, MIR4788, MIR548AB, MIR4789, MIR4446, MIR4447, LINC00501, MIR5002, MIR5186, MIR5092, MIR5704, MIR5682, MIR5588, MIR548AQ, ALDH1L1-AS2, NAALADL2-AS3, LPP-AS1, MYLK-AS2, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, CFAP44-AS1, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, LINC01840, KCNAB1-AS2, KCNAB1-AS1, RUVBL1-AS1, TM4SF1-AS1, ADIPOQ-AS1, PLCXD2-AS1, ZBTB20-AS4, B4GALT4-AS1, ALDH1L1-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, ARHGAP31-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, SLC9A9-AS1, LOC100996447, LINC01206, LINC02067, XXYLT1-AS2, LSAMP-AS1, LOC101926968, LINC02049, LOC101927056, LINC02016, LINC01471, GATA2-AS1, TMEM108-AS1, NCK1-AS1, CLSTN2-AS1, PAQR9-AS1, LINC02010, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LINC02023, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LINC02069, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LINC02037, LOC101929579, LINC01990, LINC01215, LINC02042, LINC01983, LINC02044, ZBTB20-AS5, LINC01063, MIR6083, MIR6826, MIR6828, MIR7110, MIR7976, MIR7977, MIR6829, MIR6825, MIR8076, MIR6827, LOC102723582, LINC02015, LOC102724604, LINC02031, LINC02043, LINCR-0002, LINC01391, LINC01322, LINC01327, LINC01324, ZBTB20-AS3, KCNMB2-AS1, LOC105374042, LINC02024, LOC105374060, LINC02021, LINC02014, LINC02004, LINC02045, LINC02046, LINC02066, LINC02006, LINC02029, LOC105374194, LINC01997, LOC105374205, LINC02068, LINC01995, LINC02054, LINC01839, LINC02041, LINC01991, LINC02013, LINC02038, LINC02048, LINC01972, LOC105374297, LOC105374312, LOC105374313, HTR3E-AS1, OSTN-AS1, IL20RB-AS1, LINC02020
See casesPathogenic
(Jan 5, 2011)
no assertion criteria provided
37.
GRCh37:
Chr3:104340064-115812731
GRCh38:
Chr3:104621220-116093884
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
38.
GRCh37:
Chr3:112198329-115492949
GRCh38:
Chr3:112479482-115774102
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
39.
GRCh37:
Chr3:107961419-115888178
GRCh38:
Chr3:108242572-116169331
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
40.
GRCh37:
Chr3:93605515-122935530
GRCh38:
Chr3:93886671-123216683
ADPRH, ALCAM, ATP6V1A, CASR, CBLB, CD80, CD86, CD47, COL8A1, CPOX, CSTA, DRD3, GAP43, GOLGB1, GPR15, GSK3B, GTF2E1, HCLS1, HGD, KPNA1, LSAMP, CD200, NDUFB4, PROS1, RPL24, SLC15A2, UPK1B, ZNF80, B4GALT4, NR1I2, STXBP5L, GUCA1C, IQCB1, DZIP3, TOMM70, COX17, CD96, TFG, ST3GAL6, POLQ, PDIA5, HHLA2, FSTL1, FILIP1L, MYH15, NEPRO, ABI3BP, NECTIN3, ZBTB20, OR5K1, OR5H1, FAM162A, SEC22A, ZBTB11, MORC1, GTPBP8, TAGLN3, TRAT1, IMPG2, TIMMDC1, PLA1A, FBXO40, SEMA5B, WDR5B, PARP14, GRAMD1C, SIDT1, TRMT10C, SLC35A5, TMEM45A, IFT57, DPPA4, TMEM39A, ABHD10, TBC1D23, CFAP44, EAF2, CLDND1, NIT2, POGLUT1, BBX, PCNP, SENP7, ARHGAP31, CCDC191, CIP2A, NSUN3, POPDC2, NFKBIZ, ATG3, OR5H6, OR5H2, ZBED2, CEP97, HSPBAP1, C3orf52, QTRT2, NAA50, OR5AC2, PARP9, ARL6, CMSS1, RETNLB, CCDC54, RIOX2, ADGRG7, DIRC2, MAATS1, PHLDB2, BOC, NXPE3, LRRC58, CCDC58, ZPLD1, CD200R1, CRYBG3, DCBLD2, DTX3L, LINC00635, DPPA2, CCDC80, BTLA, SPICE1, LINC02085, IGSF11, C3orf30, PARP15, GPR156, ARL13B, DHFR2, GABRR3, TIGIT, USF3, ZDHHC23, LINC00879, PLCXD2, GCSAM, TUSC7, LINC00636, EPHA6, RABL3, SLC9C1, ILDR1, DUBR, TMPRSS7, CD200R1L, LNP1, C3orf85, LINC01205, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIR198, STX19, ARGFX, LINC00488, MIR567, MIR568, ZBTB11-AS1, LOC100129297, LINC02035, ZBTB20-AS1, LINC00882, MIR3921, MORC1-AS1, NECTIN3-AS1, LINC01279, LINC00901, IGSF11-AS1, MIR4445, MIR4796, MIR548AB, MIR4446, MIR4447, MIR5682, CFAP44-AS1, PLCXD2-AS1, ZBTB20-AS4, B4GALT4-AS1, ST3GAL6-AS1, ARHGAP31-AS1, LSAMP-AS1, LOC101926968, LINC02049, HP09053, LOC101929411, LOC101929579, LINC01990, LINC01215, LINC02042, LINC02044, ZBTB20-AS5, MIR7110, MIR8060, MIR8076, LOC102723582, ZBTB20-AS3, LOC105374042, LINC02024, LOC105374060
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
41.
GRCh37:
Chr3:111887676-117112203
GRCh38:
Chr3:112168829-117393356
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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