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

Download:

Choose Destination

Search results

Items: 59

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:71494524
GRCh38:
Chr4:70628807
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr4:71494619
GRCh38:
Chr4:70628902
ENAMAmelogenesis Imperfecta, DominantBenign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr4:71494630
GRCh38:
Chr4:70628913
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr4:71494631
GRCh38:
Chr4:70628914
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr4:71495193
GRCh38:
Chr4:70629476
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr4:71497424
GRCh38:
Chr4:70631707
ENAMAmelogenesis imperfecta - hypoplastic autosomal dominant - localPathogenic/Likely pathogenic
(Aug 3, 2017)
no assertion criteria provided
7.
GRCh37:
Chr4:71497599
GRCh38:
Chr4:70631882
ENAMAmelogenesis imperfecta - hypoplastic autosomal dominant - localPathogenic
(May 1, 2002)
no assertion criteria provided
8.
GRCh37:
Chr4:71501612
GRCh38:
Chr4:70635895
ENAMAmelogenesis imperfecta - hypoplastic autosomal dominant - localPathogenic
(Jan 1, 2012)
no assertion criteria provided
9.
GRCh37:
Chr4:71503556
GRCh38:
Chr4:70637839
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr4:71503561
GRCh38:
Chr4:70637844
ENAMnot providedPathogenic
(May 22, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr4:71508014
GRCh38:
Chr4:70642297
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr4:71508031
GRCh38:
Chr4:70642314
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr4:71508042
GRCh38:
Chr4:70642325
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr4:71508223
GRCh38:
Chr4:70642506
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr4:71508246
GRCh38:
Chr4:70642529
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr4:71508402-71508403
GRCh38:
Chr4:70642685-70642686
ENAMAmelogenesis imperfecta, type IC, Amelogenesis imperfecta - hypoplastic autosomal dominant - localPathogenic/Likely pathogenic
(Jul 31, 2014)
no assertion criteria provided
17.
GRCh37:
Chr4:71508869
GRCh38:
Chr4:70643152
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr4:71509086
GRCh38:
Chr4:70643369
ENAMnot specified, Amelogenesis Imperfecta, DominantBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr4:71509088
GRCh38:
Chr4:70643371
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr4:71509315
GRCh38:
Chr4:70643598
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr4:71509384
GRCh38:
Chr4:70643667
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr4:71509431
GRCh38:
Chr4:70643714
ENAMnot specified, Amelogenesis Imperfecta, DominantBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr4:71509716
GRCh38:
Chr4:70643999
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr4:71509829
GRCh38:
Chr4:70644112
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr4:71509892
GRCh38:
Chr4:70644175
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr4:71509906
GRCh38:
Chr4:70644189
ENAMnot providedPathogenic
(Apr 6, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr4:71510141
GRCh38:
Chr4:70644424
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr4:71510150
GRCh38:
Chr4:70644433
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr4:71510420
GRCh38:
Chr4:70644703
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr4:71510453
GRCh38:
Chr4:70644736
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr4:71510543
GRCh38:
Chr4:70644826
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr4:71510641
GRCh38:
Chr4:70644924
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr4:71510728
GRCh38:
Chr4:70645011
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr4:71510836
GRCh38:
Chr4:70645119
ENAMAmelogenesis Imperfecta, DominantBenign
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr4:71510914
GRCh38:
Chr4:70645197
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr4:71510993-71510994
GRCh38:
Chr4:70645276-70645277
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr4:71510994
GRCh38:
Chr4:70645277
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr4:71511060
GRCh38:
Chr4:70645343
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr4:71511156
GRCh38:
Chr4:70645439
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr4:71511177
GRCh38:
Chr4:70645460
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr4:71511259
GRCh38:
Chr4:70645542
ENAMAmelogenesis Imperfecta, DominantBenign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr4:71511557
GRCh38:
Chr4:70645840
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr4:71511650
GRCh38:
Chr4:70645933
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr4:71511783
GRCh38:
Chr4:70646066
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr4:71511813
GRCh38:
Chr4:70646096
ENAMAmelogenesis Imperfecta, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr4:71512084
GRCh38:
Chr4:70646367
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr4:71512207
GRCh38:
Chr4:70646490
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr4:71512371
GRCh38:
Chr4:70646654
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr4:71512401
GRCh38:
Chr4:70646684
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr4:71512433
GRCh38:
Chr4:70646716
ENAMAmelogenesis Imperfecta, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr4:12440-190904441
ADD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ADRA2C, AFM, AFP, AGA, ALB, AMBN, ANK2, SLC25A4, ANXA3, ANXA5, APBB2, AREG, RHOH, ART3, ATOH1, ATP5I, NKX3-2, BMP3, BMPR1B, BST1, BTC, CAMK2D, CASP3, CASP6, CCKAR, CCNA2, CCNG2, SCARB2, CD38, LRBA, CDS1, CLGN, CENPC, CENPE, CLCN3, CNGA1, COX7A2P2, CPE, CRMP1, CSN1S1, CSN2, CSN3, CTBP1, CTSO, DGKQ, DCK, DCTD, DHX15, DMP1, DRD5, DSPP, EDNRA, EGF, EIF4E, ELF2, ENPEP, EPHA5, EREG, ETFDH, EVC, F11, FABP2, ACSL1, FAT1, FGA, FGB, FGF2, FGF5, FGFR3, FGG, FRG1, GAB1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GC, GK2, GK3P, GLRB, GNRHR, GPM6A, GRK4, GRIA2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, GUCY1A3, GUCY1B3, GYPA, GYPB, GYPE, H2AFZ, HADH, HTT, HGFAC, UBE2K, HMGB2, HMX1, HNRNPD, HPGD, HTN1, HTN3, IBSP, IDUA, CFI, IGFBP7, JCHAIN, RBPJ, IL2, CXCL8, IL15, ING2, CXCL10, IRF2, KDR, KIT, KLKB1, LETM1, LRPAP1, MAD2L1, SMAD1, MANBA, MGST2, CXCL9, AFF1, NR3C2, MSX1, MTNR1A, MTTP, MUC7, MYL5, NDUFC1, NEK1, NFKB1, NKX6-1, NPY1R, NPY2R, NPY5R, PCDH7, PDGFRA, PDE6B, PDHA2, GATB, PF4, PF4V1, PITX2, PKD2, PLRG1, EXOSC9, POLR2B, POU4F2, PPEF2, PPAT, PPBP, PPID, PPP2R2C, PPP3CA, PRKG2, MAPK10, PTPN13, QDPR, RAP1GDS1, REST, RFC1, RGS12, RNF4, ABCE1, RPL9, RPL34, RPS3A, S100P, MSMO1, CXCL6, CXCL11, CXCL5, SFRP2, SGCB, SH3BP2, SNCA, SOD3, SPINK2, SPP1, SRP72, STATH, SULT1E1, TACR3, TDO2, TEC, TLL1, TLR1, TLR2, TLR3, TRPC3, TXK, UBE2D3, UCHL1, UCP1, UGDH, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, UGT8, VEGFC, WFS1, NSD2, NELFA, ZNF141, SLBP, GLRA3, ACOX3, SPARCL1, SMARCA5, SORBS2, PRSS12, CPZ, NOP14, FAM193A, USO1, UNC5C, LAMTOR3, PDE5A, SLC4A4, SAP30, INPP4B, PROM1, HERC3, PHOX2B, SNORD73A, STBD1, CDKL2, PAPSS1, LDB2, LRAT, AIMP1, NDST3, SLIT2, RAB28, TMPRSS11D, ABCG2, HAND2, ADAMTS3, CLOCK, CEP135, RAPGEF2, KIAA0232, MFAP3L, SEC24D, G3BP2, WDR1, HS3ST1, FGFBP1, HNRNPDL, TSPAN5, ENAM, LINC01587, FAM13A, MFSD10, SPRY1, MAEA, TLR6, PCGF3, ANAPC10, ATP8A1, SPON2, PGRMC2, SEC24B, TACC3, SLC30A9, CXCL13, SLC34A2, MAB21L2, PAICS, MXD4, PDLIM5, RRH, CORIN, UGT2B11, PLK4, PTTG2, CPLX1, HPSE, SLC26A1, NMU, SMR3B, NPFFR2, PPARGC1A, PPBPP2, MORF4, UGT2A1, CCNI, LIAS, ADAM29, PRDM5, LSM6, NUDT6, ANXA10, KLHL2, SCRG1, HSPA4L, SEC31A, RUFY3, MMRN1, LIMCH1, WDFY3, PALLD, DCUN1D4, TBC1D9, METAP1, TBC1D1, SEL1L3, TMEM131L, PDS5A, ADGRL3, TRIM2, MAN2B2, ANP32C, SLC7A11, NOCT, PARM1, FAM149A, RCHY1, ANKRD17, STAP1, FBXL5, FBXO8, CHIC2, SMR3A, NSG1, PPA2, DAPP1, DKK2, FAM184B, INTU, NAAA, GPR78, COQ2, ARFIP1, SULT1B1, PDLIM3, HPGDS, ZNF330, TMPRSS11E, ZCCHC4, ANAPC4, SPOCK3, MRPS18C, LAP3, KLHL5, SEPSECS, COPS4, AADAT, HSD17B11, LEF1, HERC5, KLF3, FAM198B, PLAC8, LARP7, EMCN, MYOZ2, ASIC5, GALNT7, NUDT9, NUP54, STX18, FGFRL1, CLDN22, CYTL1, GAR1, SH3TC1, UGT2B28, RBM47, PCDH18, USP53, OTUD4, NKX1-1, TET2, DCHS2, ARHGEF38, PIGG, DCAF16, OCIAD1, COMMD8, ODAM, HPF1, HERC6, MCUB, MARCH1, BANK1, LARP1B, SDAD1, TMEM33, LGI2, BBS7, UBA6, NEIL3, PGM2, C4orf19, FBXW7, TBC1D19, PI4K2B, TMEM144, TMA16, UFSP2, BLOC1S4, ZGRF1, STK32B, AP1AR, MAML3, CHRNA9, BMP2K, DDX60, CDKN2AIP, LYAR, TENM3, N4BP2, TMEM184C, SEPT11, EXOC1, LRP2BP, TMEM165, PDGFC, SLC2A9, FSTL5, BDH2, SMARCAD1, MEPE, STOX2, PRDM8, UTP3, INTS12, ANKRD50, ATP10D, DANCR, KIAA1211, RNF150, NWD2, TBC1D14, SORCS2, CC2D2A, KLHL8, PCDH10, CFAP97, FNIP2, SLAIN2, SHROOM3, STIM2, SH3RF1, UVSSA, METTL14, WDR19, ZFYVE28, GBA3, ENOPH1, OPRPN, OSTC, IL21, RXFP1, AFAP1, GUF1, SPCS3, SCOC, TRAPPC11, NEUROG2, SLC39A8, NCAPG, HHIP, NDST4, ETNPPL, USP46, MRPL1, RASL11B, ELOVL6, TNIP2, HAUS3, NDNF, FAT4, ARSJ, SRD5A3, ARHGAP10, CENPU, THAP9, NSUN7, UGT2A3, GSTCD, MAP9, TNIP3, JADE1, SCD5, DNAJB14, TMEM156, WWC2, FRAS1, NAA15, CWH43, ABHD18, ALPK1, GRPEL1, MED28, CXXC4, KCNIP4, CEP44, SETD7, PLA2G12A, FIP1L1, TLR10, SLC25A31, RAB33B, ARHGAP24, FGFBP2, SNX25, TTC29, MND1, SLC10A7, TKTL2, C4orf17, QRFPR, ABRAXAS1, KIAA1109, MFSD7, NOA1, TMEM175, ABLIM2, HOPX, COL25A1, USP38, LNX1, MGARP, NAA11, GPAT3, CBR4, PIGY, TMEM128, CABS1, ZNF518B, FHDC1, PRMT9, CCDC149, DDX60L, YTHDC1, TMEM129, NAF1, MOB1B, TIFA, FAM114A1, TRMT10A, MRFAP1, TADA2B, TBCK, HTRA3, HELQ, CYP2U1, C1QTNF7, MRFAP1L1, DDIT4L, CLNK, WDR17, ARAP2, PCAT4, ANTXR2, OCIAD2, SCLT1, C4orf33, TMEM155, PABPC4L, BTF3P13, ADAD1, ZFP42, LIN54, SPATA18, FAM241A, TMPRSS11B, GNPDA2, SPATA4, CPEB2, EVC2, ARL9, AASDH, PDCL2, C4orf36, PACRGL, TRAM1L1, OTOP1, ENPP6, SLC9B2, ASB5, SLC9B1, ZNF827, SH3D19, NFXL1, NIPAL1, PAQR3, SHISA3, SCFD2, MGAT4D, ZNF595, FAM218A, JAKMIP1, THAP6, C4orf26, KLB, FAM53A, PPM1K, C4orf45, TRMT44, RASGEF1B, SPATA5, BBS12, DCLK2, ADGRA3, TRIM60, FREM3, MMAA, ZBTB49, TIGD2, RASSF6, RBM46, SGMS2, COX7B2, GSX2, ZNF721, SYNPO2, C4orf46, SLC10A4, TIGD4, TMEM154, SMIM14, TMEM192, RWDD4, PRIMPOL, TAPT1, TRIML2, CNOT6L, TECRL, LCORL, C4orf22, EPGN, ZNF718, ELMOD2, NPNT, CCDC110, MFSD8, CCDC96, BOD1L1, FDCSP, NAP1L5, DCAF4L1, CYP4V2, CRIPAK, DOK7, RNF212, FAM13A-AS1, GPRIN3, COX18, YIPF7, FRYL, RNF175, FAM200B, STPG2, ZAR1, CCDC158, TMPRSS11A, GCOM2, TRIML1, LRRC66, NAT8L, LOC344967, PRSS48, SOWAHB, LRIT3, MSANTD1, SLC10A6, HSD17B13, ANKRD37, POLN, KCTD8, C4orf50, SMIM20, BEND4, GRXCR1, TMPRSS11F, USP17L9P, TRIM61, HELT, C4orf48, DTHD1, SYT14P1, PRR27, AMTN, CCSER1, C4orf3, MIR302A, MIR95, MTHFD2L, TMEM150C, C4orf47, GALNTL6, MIR302B, MIR302C, MIR302D, MIR367, CISD2, UGT2A2, DEFB131A, CLRN2, C4orf51, ZNF732, SNORA26, PPBPP1, USP17L24, USP17L25, USP17L26, USP17L5, USP17L27, USP17L28, USP17L29, USP17L30, FAM160A1, RELL1, PSAPL1, SNHG8, FAM47E, CLDN24, USP17L10, USP17L11, USP17L12, USP17L13, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, ERVMER34-1, USP17L15, THEGL, GIMD1, SEC24B-AS1, MIR4449, FAM47E-STBD1, PYURF
See casesPathogenicno assertion criteria provided
52.
GRCh37:
Chr4:69551806-96215607
GRCh38:
Chr4:68686088-95294456
AFM, AFP, ALB, AMBN, ANXA3, AREG, ART3, ATOH1, BMP3, BMPR1B, BTC, CCNG2, SCARB2, CDS1, CSN1S1, CSN2, CSN3, DCK, DMP1, DSPP, EREG, FGF5, GC, GK2, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, HNRNPD, HTN1, HTN3, IBSP, JCHAIN, CXCL8, CXCL10, CXCL9, AFF1, MUC7, NKX6-1, PF4, PF4V1, PKD2, PPEF2, PPBP, PRKG2, MAPK10, PTPN13, CXCL6, CXCL11, CXCL5, SNCA, SPP1, STATH, SULT1E1, UGT2B4, UGT2B7, UGT2B10, SPARCL1, USO1, UNC5C, SLC4A4, HERC3, STBD1, CDKL2, ABCG2, ADAMTS3, G3BP2, HNRNPDL, ENAM, FAM13A, CXCL13, PDLIM5, UGT2B11, HPSE, SMR3B, NPFFR2, PPBPP2, UGT2A1, CCNI, SEC31A, RUFY3, MMRN1, WDFY3, PARM1, RCHY1, ANKRD17, SMR3A, NAAA, COQ2, SULT1B1, HPGDS, MRPS18C, COPS4, HSD17B11, HERC5, PLAC8, NUDT9, NUP54, UGT2B28, ODAM, HERC6, SDAD1, BMP2K, SEPT11, SMARCAD1, MEPE, PRDM8, UTP3, KLHL8, SHROOM3, ENOPH1, OPRPN, MRPL1, THAP9, UGT2A3, SCD5, FRAS1, ARHGAP24, FAM175A, NAA11, GPAT3, PIGY, CABS1, MOB1B, HELQ, PCAT4, ANTXR2, LIN54, C4orf36, PAQR3, THAP6, C4orf26, PPM1K, RASGEF1B, TIGD2, RASSF6, CNOT6L, C4orf22, EPGN, FDCSP, NAP1L5, FAM13A-AS1, GPRIN3, COX18, CCDC158, SOWAHB, SLC10A6, HSD17B13, PRR27, AMTN, CCSER1, WDFY3-AS2, LINC00575, MTHFD2L, LOC441025, TMEM150C, UGT2A2, SNCA-AS1, MIR575, LOC728040, PPBPP1, FAM47E, THAP9-AS1, LINC01094, LINC01088, LINC00989, LOC100506746, BMPR1B-AS1, LOC100507388, MIR548AH, MIR4450, MIR4451, MIR5096, MIR4452, FAM47E-STBD1, MIR5705, RNU6-33P, PYURF, LOC101928809, LOC101928942, LOC101928978, LOC101929064, LOC101929134, LNCPRESS2, LOC101929210, LOC105369192, LOC105377267, SNORD143, SNORD144
See casesPathogenic
(Jun 11, 2013)
no assertion criteria provided
53.
GRCh37:
Chr4:71070185-72070248
GRCh38:
Chr4:70204468-71204531
See casesUncertain significance
(May 14, 2013)
no assertion criteria provided
54.
GRCh37:
Chr4:68665383-75106637
GRCh38:
Chr4:67799665-74240920
See casesLikely pathogenic
(Oct 10, 2011)
no assertion criteria provided
55.
GRCh37:
Chr4:68735282-86438461
GRCh38:
Chr4:67869564-85517308
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
56.
GRCh37:
Chr4:66320280-73179410
GRCh38:
Chr4:65454562-72313693
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
57.
GRCh37:
Chr4:52697788-98426769
GRCh38:
Chr4:51831622-97505618
AFM, AFP, ALB, AMBN, ANXA3, AREG, ART3, ATOH1, BMP3, BMPR1B, BTC, CCNG2, SCARB2, CDS1, CENPC, COX7A2P2, CSN1S1, CSN2, CSN3, DCK, DMP1, DSPP, EPHA5, EREG, FGF5, GC, GK2, GNRHR, GRID2, CXCL1, CXCL2, CXCL3, GRSF1, HNRNPD, HTN1, HTN3, IBSP, IGFBP7, JCHAIN, CXCL8, CXCL10, KDR, KIT, CXCL9, AFF1, MUC7, NKX6-1, PDGFRA, PDHA2, PF4, PF4V1, PKD2, POLR2B, PPEF2, PPAT, PPBP, PRKG2, MAPK10, PTPN13, REST, CXCL6, CXCL11, CXCL5, SGCB, SNCA, SPINK2, SPP1, SRP72, STATH, SULT1E1, UGT2B4, UGT2B7, UGT2B10, UGT2B15, UGT2B17, SPARCL1, USO1, UNC5C, SLC4A4, HERC3, STBD1, CDKL2, TMPRSS11D, ABCG2, ADAMTS3, CLOCK, CEP135, G3BP2, HNRNPDL, ENAM, FAM13A, CXCL13, PAICS, PDLIM5, UGT2B11, HPSE, NMU, SMR3B, NPFFR2, PPBPP2, UGT2A1, CCNI, SEC31A, RUFY3, MMRN1, WDFY3, DCUN1D4, ADGRL3, PARM1, RCHY1, ANKRD17, STAP1, CHIC2, SMR3A, NAAA, COQ2, SULT1B1, HPGDS, TMPRSS11E, MRPS18C, COPS4, HSD17B11, HERC5, PLAC8, NUDT9, NUP54, UGT2B28, ODAM, HERC6, SDAD1, UBA6, BMP2K, SEPT11, EXOC1, TMEM165, SMARCAD1, MEPE, PRDM8, UTP3, DANCR, KIAA1211, KLHL8, SHROOM3, ENOPH1, OPRPN, USP46, MRPL1, RASL11B, SRD5A3, THAP9, UGT2A3, SCD5, FRAS1, FIP1L1, ARHGAP24, ABRAXAS1, NOA1, HOPX, LNX1, NAA11, GPAT3, PIGY, CABS1, YTHDC1, MOB1B, HELQ, PCAT4, ANTXR2, LIN54, SPATA18, TMPRSS11B, ARL9, AASDH, PDCL2, C4orf36, PAQR3, LINC01618, SCFD2, THAP6, C4orf26, PPM1K, RASGEF1B, TIGD2, RASSF6, GSX2, CNOT6L, TECRL, C4orf22, IGFBP7-AS1, EPGN, FDCSP, NAP1L5, FAM13A-AS1, GPRIN3, COX18, STPG2, CCDC158, TMPRSS11A, GCOM2, LRRC66, LINC02260, SOWAHB, SLC10A6, HSD17B13, TMPRSS11F, LINC02232, SYT14P1, PRR27, AMTN, CCSER1, WDFY3-AS2, LINC00575, MTHFD2L, LINC02483, TMEM150C, UBA6-AS1, LOC550113, UGT2A2, USP46-AS1, EXOC1L, SNCA-AS1, SNORA26, MIR575, LINC02499, PPBPP1, FAM47E, EPHA5-AS1, ERVMER34-1, MIR1269A, THAP9-AS1, LINC01094, LINC01088, LINC00989, LOC100506444, SRD5A3-AS1, THEGL, AFF1-AS1, BMPR1B-AS1, LOC100507388, MIR548AH, MIR4450, MIR4451, MIR5096, MIR4449, MIR548AG1, MIR4452, FAM47E-STBD1, MIR5705, RNU6-33P, RNU6-34P, LNX1-AS1, LNX1-AS2, PYURF, STPG2-AS1, ADGRL3-AS1, LOC101927237, LOC101928809, LINC02380, LOC101928942, LOC101928978, LOC101929064, LOC101929134, LNCPRESS2, LOC101929210, LOC105369192, LOC105377245, LINC02429, LINC02496, LINC02271, LOC105377267, LINC02267, LINC02480, LINC02283, LINC02494, SNORD143, SNORD144
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
58.
GRCh37:
Chr4:70938458-72477891
GRCh38:
Chr4:70072741-71612174
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
59.
GRCh37:
Chr4:67708126-71697274
GRCh38:
Chr4:66842408-70831557
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center