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Items: 24

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:63063287-63063288
GRCh38:
Chr1:62597616-62597617
ANGPTL3, DOCK7Hypobetalipoproteinemia, familial, 2Pathogenic
(Jul 1, 2012)
no assertion criteria provided
2.
GRCh37:
Chr1:63063292
GRCh38:
Chr1:62597621
ANGPTL3, DOCK7Hypobetalipoproteinemia, familial, 2Pathogenic
(Feb 1, 2012)
no assertion criteria provided
3.
GRCh37:
Chr1:63063600-63063604
GRCh38:
Chr1:62597929-62597933
ANGPTL3, DOCK7Hypobetalipoproteinemia, familial, 2Pathogenic
(Mar 22, 2012)
no assertion criteria provided
4.
GRCh37:
Chr1:63063616
GRCh38:
Chr1:62597945
ANGPTL3, DOCK7not providedLikely benign
(Jan 9, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr1:63063622
GRCh38:
Chr1:62597951
ANGPTL3, DOCK7Hypobetalipoproteinemia, familial, 2Pathogenic
(Dec 2, 2010)
no assertion criteria provided
6.
GRCh37:
Chr1:63063676-63063679
GRCh38:
Chr1:62598005-62598008
ANGPTL3, DOCK7Hypobetalipoproteinemia, familial, 2Pathogenic
(Mar 1, 2012)
no assertion criteria provided
7.
GRCh37:
Chr1:63068003
GRCh38:
Chr1:62602332
ANGPTL3, DOCK7Hypobetalipoproteinemia, familial, 2Pathogenic
(Mar 1, 2012)
no assertion criteria provided
8.
GRCh37:
Chr1:63069907
GRCh38:
Chr1:62604236
ANGPTL3, DOCK7Hypobetalipoproteinemia, familial, 2Pathogenic
(Feb 1, 2012)
no assertion criteria provided
9.
GRCh37:
Chr1:849467-249224684
ABCA4, ABL2, ACADM, ACTA1, ACTN2, ADAR, ADORA1, ADORA3, PARP1, ADSS, AGL, AGT, AK2, AK4, ALDH9A1, ALPL, ALX3, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, APCS, APOA2, FASLG, ARF1, RHOC, ARNT, ASTN1, SERPINC1, ATF3, RERE, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5PB, ATP6V0B, AVPR1B, ADGRB2, BCL9, BGLAP, BMP8B, BRDT, C1QA, C1QB, C1QC, C4BPA, C4BPB, C8A, C8B, CA6, CACNA1E, CACNA1S, CAPN2, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, RUNX3, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD247, CD5L, TNFRSF8, CD34, CD48, CD53, CD58, CDA, CDK11B, CDC20, CDC42, CDKN2C, CD52, CENPF, RCC1, CHI3L1, CHI3L2, CHIT1, CHML, LYST, CHRM3, CHRNB2, CKS1B, CLCA1, CLCN6, CLCNKA, CLCNKB, CLK2, PLK3, CNN3, CNR2, COL8A2, COL9A2, COL11A1, COL16A1, COPA, CORT, CPT2, CR1, CR1L, CR2, CRABP2, CRP, CRYZ, CSF1, CSF3R, CSRP1, CTBS, CTH, CTPS1, CTSE, CTSK, CTSS, CYP2J2, CYP4A11, CYP4B1, DAB1, CD55, DBT, GADD45A, DDOST, DHX9, DFFA, DFFB, DHCR24, DIO1, DPH2, DPT, DPYD, DR1, DVL1, E2F2, ECE1, ECM1, S1PR1, EDN2, PHC2, EIF2D, EFNA1, EFNA3, EFNA4, CELSR2, MEGF6, EPHA2, ELAVL4, ELF3, ELK4, ENO1, ENSA, EPB41, EPHA8, EPHB2, EPHX1, EPRS, EPS15, ESRRG, ETV3, EXTL1, EXTL2, EYA3, F3, F5, F13B, FAAH, FABP3, FCER1A, FCER1G, FCGR1A, FCGR1B, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FGR, FH, FHL3, FOXE3, FOXD2, FLG, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, MTOR, NR5A2, FUCA1, ACKR1, IFI6, GABRD, GALE, GALNT2, GBA, GBP1, GBP2, GBP3, GFI1, GJA4, GJA5, GJA8, GJB3, GJB5, GCLM, GLUL, GNAI3, GNAT2, GNB1, GNG4, GNG5, SFN, GPR3, GPR25, GPX7, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H3F3A, HCRTR1, HDAC1, HDGF, CFH, CFHR1, CFHR2, ZBTB48, MR1, HLX, HMGN2, HMGCL, HMGCS2, HNRNPU, HPCA, HSD3B1, HSD3B2, HSD11B1, HSPA6, IGSF3, HSPG2, HTR1D, HTR6, ID3, IFI16, CYR61, IL6R, IL10, IL12RB2, TNFRSF9, ILF2, INPP5B, INSRR, IPP, IRF6, ITPKB, IVL, JAK1, JUN, KCNA2, KCNA3, KCNA10, KCNC4, KCND3, KCNH1, KCNJ9, KCNJ10, KCNK1, KCNK2, KCNN3, KISS1, LAD1, LAMB3, LAMC1, LAMC2, STMN1, LBR, LCK, LEPR, LGALS8, LMNA, LMX1A, LOR, LY9, TACSTD2, MAGOH, MARK1, MATN1, MCL1, CD46, SMCP, MDM4, MEF2D, MFAP2, MGST3, MNDA, MOV10, MPL, MPZ, MSH4, MTF1, MTHFR, MTR, MTX1, MUC1, MUTYH, MYBPH, MYCL, MYOC, MYOG, PPP1R12B, NASP, NBL1, NCF2, NDUFS2, NDUFS5, NEK2, NFIA, NFYC, NGF, NHLH1, NHLH2, NID1, NIT1, NOTCH2, NPPA, NPPB, NPR1, NRAS, NRDC, YBX1, NTRK1, ROR1, DDR2, NVL, OPRD1, ORC1, OVGP1, PAFAH2, PRDX1, PAX7, PBX1, CDK18, PDC, PDE4B, PDZK1, PEX10, PEX14, PFDN2, PFKFB2, PGD, PGM1, PIGC, PIGR, PIK3C2B, PIK3CD, PI4KB, PKLR, PKP1, PLA2G2A, PLA2G4A, PLA2G5, PLOD1, PLXNA2, EXOSC10, PRRX1, POU2F1, POU3F1, PPOX, PPP1R8, PPP2R5A, PPT1, PRCC, PRELP, PRKAA2, PRKAB2, PRKACB, PKN2, PRKCZ, PROX1, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PTAFR, PTGER3, PTGFR, PTGFRN, PTGS2, QSOX1, PTPN7, PTPN14, PTPRC, PTPRF, PEX19, ABCD3, RAB3B, RAB4A, RAB13, RABGGTB, RABIF, RAP1A, RAP1GAP, RBBP4, RBBP5, REN, RFX5, RGS1, RGS2, RGS4, RGS7, RGS13, RGS16, RHCE, RHD, RIT1, RLF, RNASEL, RNF2, RNPEP, RNU1-4, SNORA73A, SNORD21, RORC, RPA2, RPE65, RPL5, RPL11, RPL22, RPS6KA1, RPS8, RPS27, RSC1A1, RXRG, RYR2, S100A1, SORT1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, SARS, SCNN1D, SCP2, XCL1, SDHB, SDHC, SELE, SELL, SELP, SFPQ, SRSF4, SHC1, ST3GAL3, STIL, SKI, SLAMF1, SLC1A7, SLC2A1, SLC2A5, SLC6A9, SLC9A1, SLC16A1, SNRPE, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SRM, SRP9, TROVE2, SSR2, STXBP3, XCL2, SYCP1, TAF12, TAF13, TAL1, TARBP1, CNTN2, TBCE, TBX15, TCEA3, ELOA, VPS72, TGFB2, LEFTY2, TGFBR3, THBS3, TCHH, TIE1, TLR5, GPR137B, TNFRSF1B, TNNI1, TNNT2, TNR, TP53BP2, TP73, TPM3, TPR, TRAF5, TRE-TTC3-1, TRNAG1, CCT3, TRN-GTT2-1, TSHB, TSNAX, TTC4, TUFT1, TNFSF4, TNFRSF4, UCK2, UQCRH, UROD, USF1, USP1, USH2A, VCAM1, WNT2B, WNT9A, ZSCAN20, ZNF124, ZBTB17, SLC30A1, SLC30A2, LUZP1, PRDM2, DNALI1, LRP8, LAPTM5, BSND, CSDE1, EVI5, DAP3, NPHS2, BTG2, PTP4A2, ARID1A, HIST3H3, CDC7, HIST2H2AA3, HIST2H2AC, HIST2H2BE, HIST2H4A, PIP5K1A, TAGLN2, BCAR3, ANXA9, SNHG3, NR0B2, RAD54L, GNPAT, DYRK3, TTF2, CDC42BPA, RGS5, PPFIA4, PIK3R3, MMP23B, KCNAB2, ITGA10, LMO4, FCN3, BLZF1, CDC14A, DEGS1, KMO, YARS, MKNK1, AKR7A2, PLPP3, RTCA, PTCH2, ALDH4A1, EIF3I, EIF4G3, VAMP4, PEA15, B4GALT3, B4GALT2, B3GALT2, TNFRSF25, ADAM15, PABPC4, TNFRSF14, TNFRSF18, FPGT, PEX11B, CREG1, CD84, PER3, FUBP1, EIF2B3, BCL10, RAB29, SELENBP1, TNFSF18, TAF1A, MPZL1, SH2D2A, ARTN, MAP3K6, ANGPTL1, DIRAS3, TBX19, FCGR2C, SLC16A4, PRPF3, KCNQ4, EXO1, ARHGEF2, DEDD, ZMYM4, ZMYM6, XPR1, FCMR, DHRS3, MAPKAPK2, GPR37L1, GPR52, SRSF11, VAMP3, ZFYVE9, CD101, SELENOF, ZRANB2, SNRNP40, ARHGAP29, AIM2, GGPS1, RASAL2, THEMIS2, ADAMTS4, TMEM59, CHD1L, H6PD, SOX13, PRDX6, CLCA2, ISG15, IKBKE, PLCH2, HS2ST1, PDE4DIP, IPO13, SDC3, SLC25A44, KIAA0040, KDM4A, CROCC, PUM1, NOS1AP, TMEM63A, CEP104, RIMS3, TOMM20, EFCAB14, URB2, ARHGEF11, DNAJC6, CEP350, CEP170, LRIG2, SETDB1, ZC3H11A, SMG7, PLPPR4, UBAP2L, SV2A, KLHL21, SLC35E2A, DENND4B, RABGAP1L, TMCC2, FAM20B, ZBTB40, LPGAT1, MFN2, KIF14, RBM8A, THRAP3, NR1I3, AKT3, INSL5, PIGK, SCAMP3, PTPRU, ARPC5, TSPAN2, TSPAN1, CELA3A, PDZK1IP1, WASF2, PATJ, PRG4, ANGPTL7, GPA33, STX6, HNRNPR, SRRM1, CNKSR1, SF3B4, ZMPSTE24, UBE4B, BCAS2, AKR1A1, WARS2, BPNT1, CEPT1, PIAS3, TESK2, TIMM17A, LRRN2, PPIE, VAV3, HAX1, MAD2L2, PPIH, ZBTB18, C1orf61, CAP1, LRRC41, SEMA6C, LAMTOR5, SLC19A2, IFI44, POLR3C, IVNS1ABP, TXNIP, PDPN, LEFTY1, SPHAR, PMVK, KHDRBS1, GMEB1, FAM189B, AP4B1, NUDC, PHTF1, MASP2, CAPN9, NES, KDM5B, AHCYL1, SRSF10, SDCCAG8, CFHR4, CFHR3, WDR3, OCLM, JTB, MTMR11, MAN1A2, UTS2, SF3A3, MLLT11, IFI44L, EBNA1BP2, SLC27A3, KIF2C, IL24, TDRKH, RER1, DNAJB4, ADAM30, RCAN3, FAF1, CD160, GLMN, HHLA3, CELF3, DDX20, DUSP10, MST1L, PADI2, PMF1, DUSP12, VPS45, LYPLA2, PARK7, CTRC, ACOT7, COG2, CLCA4, MTF2, DNAJC8, NTNG1, PLEKHA6, CLSTN1, FOXJ3, KHDC4, WDR47, KIFAP3, ATF6, SCMH1, AKR7A3, TTC39A, SPEN, KDM1A, RBM34, USP33, WDTC1, KIF21B, NMNAT2, EMC1, KIF1B, NFASC, POGZ, COLGALT2, MAST2, NCDN, CLCC1, SLC35D1, RGL1, PLEKHM2, SYT11, PRRC2C, FBXO28, RPRD2, OTUD3, KAZN, CAMTA1, ADGRL2, CAMSAP2, KIAA1107, TUT4, SZT2, DNAJC16, UBR4, USP24, SRGAP2, SMG5, NCSTN, ATP13A2, CRB1, ITGB3BP, GPR161, TARDBP, CELA3B, SLC35A3, ABCB10, ICMT, MACF1, LRRC8B, ZNF281, SNAPIN, LPAR3, PADI4, DDAH1, TMEM50A, OPN3, PHLDA3, RUSC1, CA14, KPNA6, SSBP3, STX12, DSTYK, RAB3GAP2, CFAP45, LMOD1, MPC2, TRIM58, INTS7, OLFML2B, AHCTF1, C1orf43, CLIC4, NSL1, SYF2, RWDD3, PARS2, MMACHC, ZZZ3, ACOT11, CHD5, DNM3, TOR1AIP1, CHTOP, SZRD1, LDLRAP1, SERBP1, NOC2L, OR1C1, PTPN22, PHGDH, FBXO2, LCE2B, OR2M4, OR2L2, OPTC, FBXO6, PLA2G2D, AK5, MYCBP, OR10J1, HEYL, AGO1, OR2T1, RPS6KC1, RNF11, USP21, FOXD3, UTP25, TRAPPC3, TAF5L, CACYBP, HSPB7, CHIA, SLC39A1, DISC2, DISC1, ARHGEF16, AHDC1, RNF115, KLHL20, TEKT2, SMPDL3B, ANGPTL3, LAMTOR2, FLVCR1, UBE2T, CNIH4, SSU72, TMOD4, GNL2, GPSM2, UBIAD1, PYCR2, NME7, ALG6, NENF, PADI1, IL19, CERS2, SLC25A24, PLA2G2E, DNTTIP2, WRAP73, CRNN, G0S2, IL20, SLC45A1, DCAF8, HP1BP3, F11R, TMED5, RRP15, GLRX2, BOLA1, DESI2, CELA2B, ZNF593, ZBTB7B, ZNF691, TXNDC12, TNNI3K, RRNAD1, ADIPOR1, SCCPDH, SH3GLB1, MECR, APH1A, UTP11, TRIM17, KCTD3, SDF4, MRTO4, PLEKHO1, HAO2, ACP6, TMEM69, MRPL37, IER5, HOOK1, SNX7, UCHL5, SUCO, HPCAL4, YTHDF2, GPR89B, HSD17B7, UFC1, DTL, ZCCHC17, TRIM33, METTL13, DPH5, HSPB11, OAZ3, PADI3, CYB5R1, CMPK1, ARID4B, CD244, GPR88, ERRFI1, DPM3, WNT4, YIPF1, FBXO42, MRPS21, TRMT13, TMCO1, ADAMTSL4, CRCT1, RNF186, SPATA6, EGLN1, MXRA8, L1TD1, HES2, MAP10, RSBN1, ZNHIT6, GPN2, LEPROT, FBLIM1, MED18, TRIT1, GIPC2, SWT1, GDAP2, TENT5C, GON4L, GPATCH4, PALMD, FNBP1L, ST7L, PQLC2, CASZ1, LAX1, RHBDL2, DUSP23, ADPRHL2, TRNAU1AP, ODR4, C1orf109, C1orf56, INTS11, C1orf123, C1orf159, MARC2, AURKAIP1, TTC22, MRPL20, CRYBG2, SUSD4, KIF26B, TMEM51, RALGPS2, GPATCH2, BSDC1, XKR8, TMEM39B, PRPF38B, HEATR1, CDCA8, LRRC8D, MSTO1, DARS2, ARHGEF10L, PRMT6, RNF220, VPS13D, EVA1B, GOLPH3L, ATAD3A, MACO1, KLHDC8A, TRIM62, ETNK2, RAVER2, PANK4, KIRREL1, TMEM206, YY1AP1, ECHDC2, FGGY, MCOLN3, SLC22A15, YOD1, CAMK2N1, BATF3, SLC30A10, UBE2Q1, RNPC3, ITLN1, ASAP3, POMGNT1, PNRC2, LRRC40, DEPDC1, PIGV, ZNF692, NBPF1, IARS2, MAP7D1, IPO9, NDC1, NECAP2, IQCC, C1orf112, HHAT, DNAJC11, ENAH, NUP133, RCOR3, INAVA, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, INKA2, DMAP1, AJAP1, GNG12, SLC50A1, TMEM234, MTFR1L, SERTAD4, KYAT3, ERO1B, FMN2, SLAMF8, CDC42SE1, UBQLN4, TMEM167B, OLFML3, SMYD2, LHX9, OTUD7B, COQ8A, CTNNBIP1, RSRP1, AGTRAP, PITHD1, RAB25, PGLYRP4, ZNF695, RHBG, MAN1C1, SCYL3, GJC2, CAMK1G, NIPAL3, SELENON, ATP8B2, VANGL2, PBXIP1, S100A14, PLEKHG5, GATAD2B, AMIGO1, LRRC47, ODF2L, CGN, KIAA1324, DISP3, IGSF9, LRRC7, SIPA1L2, KIF17, ZNF687, ZSWIM5, POGK, KIAA1522, HCN3, CACHD1, MIER1, KIAA1614, BRINP2, HES4, CCDC181, GRHL3, SLAMF7, ZP4, CADM3, PTBP2, RHOU, PRUNE1, DNASE2B, DLGAP3, IL22RA1, HIVEP3, KLHL12, LGR6, GPBP1L1, HAPLN2, MIIP, GAS5, PAPPA2, CELA2A, BCAN, GPATCH3, TNN, MRPS14, DMRTB1, DMRTA2, CLSPN, PRDM16, OXCT2, RRAGC, ADGRL4, TINAGL1, P3H1, TFB2M, SEMA4A, TOR3A, COP1, GREM2, RGS18, PLA2G2F, MFSD14A, NUCKS1, SMAP2, ACBD3, SMYD3, ATPAF1, MARC1, S100PBP, MEAF6, RBM15, EXO5, CEP85, ARV1, NMNAT1, ELOVL1, AIDA, VWA1, DCLRE1B, MRPS15, MRPL9, PINK1, JMJD4, MARCKSL1, PRAMEF1, PRAMEF2, INTS3, NADK, ZFP69B, COA7, PHACTR4, AUNIP, SCNM1, ERI3, C1orf50, WDR77, C1orf116, CCDC28B, C1orf35, EFHD2, MMEL1, CPLANE2, FCRL2, NKAIN1, TTC13, EPS8L3, CDC73, MRPL24, MUL1, PGBD5, TNFAIP8L2, C1orf54, TMEM53, AKIRIN1, HECTD3, BEND5, VTCN1, YRDC, ZYG11B, NOL9, PPCS, LIN28A, SH3D21, TTLL7, SNIP1, C1orf115, HHIPL2, VASH2, AGMAT, WDR78, ZMYM1, ZNF669, RPAP2, ZNF672, MORN1, FAM110D, KIAA0319L, DHDDS, PAQR6, DENND2D, WLS, PCNX2, GPR157, TRIM46, MROH9, RPF1, SIKE1, ZC3H12A, SPSB1, TARS2, WDR26, TRIM45, EDEM3, FLAD1, TRAF3IP3, CPTP, ZNF436, TAS1R2, TAS1R1, SH3BP5L, NPL, GJA9, OR6N2, OR6K2, OR2L5, OR2G3, OR2G2, OR2C3, SYNC, CFHR5, TRIM11, C1orf21, ACTL8, ANKRD13C, NECTIN4, SNX27, ANP32E, SHCBP1L, TRMT1L, TSSK3, CCNL2, NUAK2, VANGL1, ST6GALNAC5, ISG20L2, HYI, FCRL5, FCRL4, SH3BGRL3, DDX59, NUF2, RASSF5, SESN2, ESPN, TAS1R3, ATAD3B, HMCN1, GPR61, MIXL1, STK40, SPRTN, TM2D1, FCAMR, REG4, OBSCN, TMEM222, TEX35, PLEKHN1, HORMAD1, TOMM40L, SYDE2, ZNF644, USP48, ZMYND12, NBPF3, LRRC8C, ZDHHC18, SGIP1, POLR3GL, SLC25A33, TMEM79, NTPCR, EFCAB2, DDI2, ACBD6, LZIC, PROK1, MAP3K21, EFCAB7, ZBTB37, NT5C1A, LCE3D, TRIM63, PSRC1, FAM167B, FCRLA, ZNF496, HPDL, AGBL4, MFSD2A, C1orf198, PPP1R15B, ATG4C, MAEL, PRPF38A, SYTL1, IGSF21, LSM10, C1orf94, DISP1, STRIP1, RGS8, SLC45A3, DOCK7, CFAP74, WNT3A, NAV1, SEC16B, AQP10, LHX4, SLAMF9, KIAA2013, THAP3, STPG1, PYGO2, ANGEL2, SPOCD1, ZNF697, IGFN1, NUP210L, BTF3L4, UBXN11, NEXN, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, TMEM183A, HIST3H2A, PIGM, IGSF8, C1orf158, LEMD1, ZNF670, FBXO44, ATP5IF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, TENT5B, COX20, RBP7, TSEN15, FAM129A, SNAP47, ACAP3, TADA1, THEM4, SH2D1B, SSX2IP, UBE2J2, OLFM3, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KDF1, CCSAP, LRRC38, AADACL3, PUSL1, B3GALT6, WDR63, KLHDC9, AXDND1, MAB21L3, IFFO2, HIST2H3C, SLC44A3, ATXN7L2, C1orf194, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, ATP6V1G3, ASB17, TYW3, ERICH3, LRRIQ3, TPRG1L, FAM213B, MYOM3, DMBX1, OR10J5, TMCO2, ZNF684, TCEANC2, PODN, LRRC39, GJB4, HMGB4, RNF19B, A3GALT2, DCST2, DNAH14, OR2B11, ZNF648, TEDDM1, C1orf122, OSCP1, C1orf216, KLHDC7A, VWA5B1, UBXN10, C1orf87, ARL8A, SYT2, GOLT1A, UHMK1, FCRLB, WDR64, C1orf131, LIX1L, SPATA17, EDARADD, KLF17, TMEM125, TSACC, IQGAP3, NAXE, ARHGEF19, MRPL55, HIST3H2BB, DRAM2, PIFO, C1orf162, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, TATDN3, S100A16, NEK7, ACTRT2, MIB2, ITLN2, SYT6, C1orf74, CREB3L4, C1orf127, BROX, SAMD11, SAMD13, C1orf52, PHF13, CIART, TMEM56, NBPF4, UBE2U, SLC35F3, HJV, ANKRD35, FAM163A, B3GALNT2, MFSD4A, PM20D1, GCSAML, SLC30A7, CCDC27, KNCN, MOB3C, GLIS1, NBPF12, LELP1, RC3H1, DCDC2B, ZNF362, DCST1, CNIH3, MANEAL, IL23R, METTL11B, FAM78B, SHISA4, EXOC8, PDIK1L, BNIPL, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CCDC17, LRRC71, SRARP, RNF187, PYHIN1, SPATA45, FAM71A, SLC2A7, DENND2C, GBP6, FNDC7, DENND1B, TDRD5, TOR1AIP2, CALML6, IFNLR1, CITED4, LEXM, SPRR4, KANK4, SASS6, SDE2, CNST, FAM43B, HFM1, PAQR7, TTC24, CCDC185, UBL4B, AGO3, AGO4, LCE4A, ALG14, FAM76A, FYB2, TMEM201, TMEM61, CYP4Z1, FAAP20, CDCP2, SLC5A9, CC2D1B, NBPF11, NUDT17, TXLNA, TCTEX1D1, PLD5, C1orf100, SPAG17, SLFNL1, KRTCAP2, CRTC2, IBA57, HIPK1, SLC44A5, ATAD3C, AKR7L, TMEM9, FNDC5, EPHX4, TTLL10, AKNAD1, SLC41A1, OR2T6, LCE5A, TMCO4, MCOLN2, COL24A1, PCSK9, SYT14, ST6GALNAC3, CATSPERE, ZNF683, ARHGAP30, CFAP126, NEGR1, ASPM, MDS2, CYP4X1, MAGI3, TIPRL, NPHP4, BEST4, PGBD2, FAM19A3, RIIAD1, THEM5, C1orf167, OR2L13, SLC9C2, OR14A16, CYP4A22, C1orf185, NBPF15, FAM102B, SYPL2, CYB561D1, ANKRD34A, RUSC1-AS1, RSPO1, EPHA10, SNHG28, SPATA46, ZNF326, BTBD8, RIMKLA, SLC25A34, LIN9, VN1R5, HIST2H2AB, PPM1J, HIST2H3A, FAM151A, S100A7A, LINGO4, RXFP4, ANKRD45, C1orf174, KLHL17, TMEM240, TMEM52, BRINP3, ZBTB8OS, TFAP2E, ZNF678, PRSS38, CCDC190, ARMH1, ZFP69, RD3, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, CCDC18, OR6F1, OR2W3, OR2T8, OR2T3, MYBPHL, OR10R2, FCRL6, KCNT2, BARHL2, NBPF7, TCTEX1D4, OR2T29, SERINC2, SHISAL2A, FAM131C, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PADI6, RGSL1, BMP8A, IRF2BP2, ZBTB41, DRAXIN, SPATA21, SVBP, TEX38, MROH7, MIGA1, PEAR1, SFT2D2, MIA3, STUM, FAM89A, AGRN, CENPS, CATSPER4, NSUN4, GPR153, ILDR2, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, TRNP1, CD164L2, TRABD2B, LDLRAD1, GBP7, C1orf146, FAM69A, SLC6A17, NOTCH2NL, LYSMD1, HRNR, FLG2, C1orf189, C1orf53, TMEM81, CAPN8, COA6, C1orf229, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, FRRS1, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, TMEM200B, PRAMEF4, PRAMEF13, SH2D5, NCMAP, C1orf141, C1orf226, NBPF9, FAM177B, RNF223, LDLRAD2, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, APOBEC4, MIR101-1, MIR137, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR181A1, MIR214, MIR215, MIR29C, MIR30C1, MIR34A, MIR9-1, RGS21, LHX8, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, FAM183A, ZYG11A, BCL2L15, HIST2H2BF, ETV3L, LRRC52, RHEX, TRIM67, MAP1LC3C, ANKRD65, PRAMEF7, OR10J3, OR2W5, OR13G1, KPRP, LCE6A, RBMXL1, LURAP1, PEF1, MIR429, FAM72C, HIST2H4B, PRR9, C1orf147, CYB5RL, MIR205HG, FLVCR1-DT, KIAA0754, TMEM88B, FNDC10, PPIAL4G, PPIAL4D, PRAMEF19, PRAMEF20, MT1HL1, S100A7L2, LACTBL1, LYPD8, SRGAP2B, ASCL5, ZBTB8A, NBPF6, SRGAP2C, PPIAL4A, GPR89A, PPIAL4C, HIST2H3D, PRAMEF22, PRAMEF15, FAM72B, PRAMEF16, PCP4L1, MIR551A, HIST2H2AA4, ZBTB8B, CCDC30, CDK11A, SLC35E2B, FAM72D, NBPF8, PPIAL4F, TEX46, FAM72A, PPIAL4E, FAM229A, MIR29B2CHG, BTNL10, C1orf68, TSTD1, FOXO6, LINC01783, NBPF10, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, ZBED6, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, CENPS-CORT, FPGT-TNNI3K, PMF1-BGLAP, MINOS1-NBL1, DNM3OS, NEGR1-IT1, ZRANB2-AS2, LINC00538, FALEC, LINC00853, LOC100996263, LOC101927434, LOC101927851, LOC101928034, LINC01649, LOC101929516
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
10.
GRCh37:
Chr1:849467-249224684
ABCA4, ABL2, ACADM, ACTA1, ACTN2, ADAR, ADORA1, ADORA3, PARP1, ADSS, AGL, AGT, AK2, AK4, ALDH9A1, ALPL, ALX3, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, APCS, APOA2, FASLG, ARF1, RHOC, ARNT, ASTN1, SERPINC1, ATF3, RERE, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5PB, ATP6V0B, AVPR1B, ADGRB2, BCL9, BGLAP, BMP8B, BRDT, C1QA, C1QB, C1QC, C4BPA, C4BPB, C8A, C8B, CA6, CACNA1E, CACNA1S, CAPN2, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, RUNX3, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD247, CD5L, TNFRSF8, CD34, CD48, CD53, CD58, CDA, CDK11B, CDC20, CDC42, CDKN2C, CD52, CENPF, RCC1, CHI3L1, CHI3L2, CHIT1, CHML, LYST, CHRM3, CHRNB2, CKS1B, CLCA1, CLCN6, CLCNKA, CLCNKB, CLK2, PLK3, CNN3, CNR2, COL8A2, COL9A2, COL11A1, COL16A1, COPA, CORT, CPT2, CR1, CR1L, CR2, CRABP2, CRP, CRYZ, CSF1, CSF3R, CSRP1, CTBS, CTH, CTPS1, CTSE, CTSK, CTSS, CYP2J2, CYP4A11, CYP4B1, DAB1, CD55, DBT, GADD45A, DDOST, DHX9, DFFA, DFFB, DHCR24, DIO1, DPH2, DPT, DPYD, DR1, DVL1, E2F2, ECE1, ECM1, S1PR1, EDN2, PHC2, EIF2D, EFNA1, EFNA3, EFNA4, CELSR2, MEGF6, EPHA2, ELAVL4, ELF3, ELK4, ENO1, ENSA, EPB41, EPHA8, EPHB2, EPHX1, EPRS, EPS15, ESRRG, ETV3, EXTL1, EXTL2, EYA3, F3, F5, F13B, FAAH, FABP3, FCER1A, FCER1G, FCGR1A, FCGR1B, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FGR, FH, FHL3, FOXE3, FOXD2, FLG, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, MTOR, NR5A2, FUCA1, ACKR1, IFI6, GABRD, GALE, GALNT2, GBA, GBP1, GBP2, GBP3, GFI1, GJA4, GJA5, GJA8, GJB3, GJB5, GCLM, GLUL, GNAI3, GNAT2, GNB1, GNG4, GNG5, SFN, GPR3, GPR25, GPX7, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H3F3A, HCRTR1, HDAC1, HDGF, CFH, CFHR1, CFHR2, ZBTB48, MR1, HLX, HMGN2, HMGCL, HMGCS2, HNRNPU, HPCA, HSD3B1, HSD3B2, HSD11B1, HSPA6, IGSF3, HSPG2, HTR1D, HTR6, ID3, IFI16, CYR61, IL6R, IL10, IL12RB2, TNFRSF9, ILF2, INPP5B, INSRR, IPP, IRF6, ITPKB, IVL, JAK1, JUN, KCNA2, KCNA3, KCNA10, KCNC4, KCND3, KCNH1, KCNJ9, KCNJ10, KCNK1, KCNK2, KCNN3, KISS1, LAD1, LAMB3, LAMC1, LAMC2, STMN1, LBR, LCK, LEPR, LGALS8, LMNA, LMX1A, LOR, LY9, TACSTD2, MAGOH, MARK1, MATN1, MCL1, CD46, SMCP, MDM4, MEF2D, MFAP2, MGST3, MNDA, MOV10, MPL, MPZ, MSH4, MTF1, MTHFR, MTR, MTX1, MUC1, MUTYH, MYBPH, MYCL, MYOC, MYOG, PPP1R12B, NASP, NBL1, NCF2, NDUFS2, NDUFS5, NEK2, NFIA, NFYC, NGF, NHLH1, NHLH2, NID1, NIT1, NOTCH2, NPPA, NPPB, NPR1, NRAS, NRDC, YBX1, NTRK1, ROR1, DDR2, NVL, OPRD1, ORC1, OVGP1, PAFAH2, PRDX1, PAX7, PBX1, CDK18, PDC, PDE4B, PDZK1, PEX10, PEX14, PFDN2, PFKFB2, PGD, PGM1, PIGC, PIGR, PIK3C2B, PIK3CD, PI4KB, PKLR, PKP1, PLA2G2A, PLA2G4A, PLA2G5, PLOD1, PLXNA2, EXOSC10, PRRX1, POU2F1, POU3F1, PPOX, PPP1R8, PPP2R5A, PPT1, PRCC, PRELP, PRKAA2, PRKAB2, PRKACB, PKN2, PRKCZ, PROX1, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PTAFR, PTGER3, PTGFR, PTGFRN, PTGS2, QSOX1, PTPN7, PTPN14, PTPRC, PTPRF, PEX19, ABCD3, RAB3B, RAB4A, RAB13, RABGGTB, RABIF, RAP1A, RAP1GAP, RBBP4, RBBP5, REN, RFX5, RGS1, RGS2, RGS4, RGS7, RGS13, RGS16, RHCE, RHD, RIT1, RLF, RNASEL, RNF2, RNPEP, RNU1-4, SNORA73A, SNORD21, RORC, RPA2, RPE65, RPL5, RPL11, RPL22, RPS6KA1, RPS8, RPS27, RSC1A1, RXRG, RYR2, S100A1, SORT1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, SARS, SCNN1D, SCP2, XCL1, SDHB, SDHC, SELE, SELL, SELP, SFPQ, SRSF4, SHC1, ST3GAL3, STIL, SKI, SLAMF1, SLC1A7, SLC2A1, SLC2A5, SLC6A9, SLC9A1, SLC16A1, SNRPE, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SRM, SRP9, TROVE2, SSR2, STXBP3, XCL2, SYCP1, TAF12, TAF13, TAL1, TARBP1, CNTN2, TBCE, TBX15, TCEA3, ELOA, VPS72, TGFB2, LEFTY2, TGFBR3, THBS3, TCHH, TIE1, TLR5, GPR137B, TNFRSF1B, TNNI1, TNNT2, TNR, TP53BP2, TP73, TPM3, TPR, TRAF5, TRE-TTC3-1, TRNAG1, CCT3, TRN-GTT2-1, TSHB, TSNAX, TTC4, TUFT1, TNFSF4, TNFRSF4, UCK2, UQCRH, UROD, USF1, USP1, USH2A, VCAM1, WNT2B, WNT9A, ZSCAN20, ZNF124, ZBTB17, SLC30A1, SLC30A2, LUZP1, PRDM2, DNALI1, LRP8, LAPTM5, BSND, CSDE1, EVI5, DAP3, NPHS2, BTG2, PTP4A2, ARID1A, HIST3H3, CDC7, HIST2H2AA3, HIST2H2AC, HIST2H2BE, HIST2H4A, PIP5K1A, TAGLN2, BCAR3, ANXA9, SNHG3, NR0B2, RAD54L, GNPAT, DYRK3, TTF2, CDC42BPA, RGS5, PPFIA4, PIK3R3, MMP23B, KCNAB2, ITGA10, LMO4, FCN3, BLZF1, CDC14A, DEGS1, KMO, YARS, MKNK1, AKR7A2, PLPP3, RTCA, PTCH2, ALDH4A1, EIF3I, EIF4G3, VAMP4, PEA15, B4GALT3, B4GALT2, B3GALT2, TNFRSF25, ADAM15, PABPC4, TNFRSF14, TNFRSF18, FPGT, PEX11B, CREG1, CD84, PER3, FUBP1, EIF2B3, BCL10, RAB29, SELENBP1, TNFSF18, TAF1A, MPZL1, SH2D2A, ARTN, MAP3K6, ANGPTL1, DIRAS3, TBX19, FCGR2C, SLC16A4, PRPF3, KCNQ4, EXO1, ARHGEF2, DEDD, ZMYM4, ZMYM6, XPR1, FCMR, DHRS3, MAPKAPK2, GPR37L1, GPR52, SRSF11, VAMP3, ZFYVE9, CD101, SELENOF, ZRANB2, SNRNP40, ARHGAP29, AIM2, GGPS1, RASAL2, THEMIS2, ADAMTS4, TMEM59, CHD1L, H6PD, SOX13, PRDX6, CLCA2, ISG15, IKBKE, PLCH2, HS2ST1, PDE4DIP, IPO13, SDC3, SLC25A44, KIAA0040, KDM4A, CROCC, PUM1, NOS1AP, TMEM63A, CEP104, RIMS3, TOMM20, EFCAB14, URB2, ARHGEF11, DNAJC6, CEP350, CEP170, LRIG2, SETDB1, ZC3H11A, SMG7, PLPPR4, UBAP2L, SV2A, KLHL21, SLC35E2A, DENND4B, RABGAP1L, TMCC2, FAM20B, ZBTB40, LPGAT1, MFN2, KIF14, RBM8A, THRAP3, NR1I3, AKT3, INSL5, PIGK, SCAMP3, PTPRU, ARPC5, TSPAN2, TSPAN1, CELA3A, PDZK1IP1, WASF2, PATJ, PRG4, ANGPTL7, GPA33, STX6, HNRNPR, SRRM1, CNKSR1, SF3B4, ZMPSTE24, UBE4B, BCAS2, AKR1A1, WARS2, BPNT1, CEPT1, PIAS3, TESK2, TIMM17A, LRRN2, PPIE, VAV3, HAX1, MAD2L2, PPIH, ZBTB18, C1orf61, CAP1, LRRC41, SEMA6C, LAMTOR5, SLC19A2, IFI44, POLR3C, IVNS1ABP, TXNIP, PDPN, LEFTY1, SPHAR, PMVK, KHDRBS1, GMEB1, FAM189B, AP4B1, NUDC, PHTF1, MASP2, CAPN9, NES, KDM5B, AHCYL1, SRSF10, SDCCAG8, CFHR4, CFHR3, WDR3, OCLM, JTB, MTMR11, MAN1A2, UTS2, SF3A3, MLLT11, IFI44L, EBNA1BP2, SLC27A3, KIF2C, IL24, TDRKH, RER1, DNAJB4, ADAM30, RCAN3, FAF1, CD160, GLMN, HHLA3, CELF3, DDX20, DUSP10, MST1L, PADI2, PMF1, DUSP12, VPS45, LYPLA2, PARK7, CTRC, ACOT7, COG2, CLCA4, MTF2, DNAJC8, NTNG1, PLEKHA6, CLSTN1, FOXJ3, KHDC4, WDR47, KIFAP3, ATF6, SCMH1, AKR7A3, TTC39A, SPEN, KDM1A, RBM34, USP33, WDTC1, KIF21B, NMNAT2, EMC1, KIF1B, NFASC, POGZ, COLGALT2, MAST2, NCDN, CLCC1, SLC35D1, RGL1, PLEKHM2, SYT11, PRRC2C, FBXO28, RPRD2, OTUD3, KAZN, CAMTA1, ADGRL2, CAMSAP2, KIAA1107, TUT4, SZT2, DNAJC16, UBR4, USP24, SRGAP2, SMG5, NCSTN, ATP13A2, CRB1, ITGB3BP, GPR161, TARDBP, CELA3B, SLC35A3, ABCB10, ICMT, MACF1, LRRC8B, ZNF281, SNAPIN, LPAR3, PADI4, DDAH1, TMEM50A, OPN3, PHLDA3, RUSC1, CA14, KPNA6, SSBP3, STX12, DSTYK, RAB3GAP2, CFAP45, LMOD1, MPC2, TRIM58, INTS7, OLFML2B, AHCTF1, C1orf43, CLIC4, NSL1, SYF2, RWDD3, PARS2, MMACHC, ZZZ3, ACOT11, CHD5, DNM3, TOR1AIP1, CHTOP, SZRD1, LDLRAP1, SERBP1, NOC2L, OR1C1, PTPN22, PHGDH, FBXO2, LCE2B, OR2M4, OR2L2, OPTC, FBXO6, PLA2G2D, AK5, MYCBP, OR10J1, HEYL, AGO1, OR2T1, RPS6KC1, RNF11, USP21, FOXD3, UTP25, TRAPPC3, TAF5L, CACYBP, HSPB7, CHIA, SLC39A1, DISC2, DISC1, ARHGEF16, AHDC1, RNF115, KLHL20, TEKT2, SMPDL3B, ANGPTL3, LAMTOR2, FLVCR1, UBE2T, CNIH4, SSU72, TMOD4, GNL2, GPSM2, UBIAD1, PYCR2, NME7, ALG6, NENF, PADI1, IL19, CERS2, SLC25A24, PLA2G2E, DNTTIP2, WRAP73, CRNN, G0S2, IL20, SLC45A1, DCAF8, HP1BP3, F11R, TMED5, RRP15, GLRX2, BOLA1, DESI2, CELA2B, ZNF593, ZBTB7B, ZNF691, TXNDC12, TNNI3K, RRNAD1, ADIPOR1, SCCPDH, SH3GLB1, MECR, APH1A, UTP11, TRIM17, KCTD3, SDF4, MRTO4, PLEKHO1, HAO2, ACP6, TMEM69, MRPL37, IER5, HOOK1, SNX7, UCHL5, SUCO, HPCAL4, YTHDF2, GPR89B, HSD17B7, UFC1, DTL, ZCCHC17, TRIM33, METTL13, DPH5, HSPB11, OAZ3, PADI3, CYB5R1, CMPK1, ARID4B, CD244, GPR88, ERRFI1, DPM3, WNT4, YIPF1, FBXO42, MRPS21, TRMT13, TMCO1, ADAMTSL4, CRCT1, RNF186, SPATA6, EGLN1, MXRA8, L1TD1, HES2, MAP10, RSBN1, ZNHIT6, GPN2, LEPROT, FBLIM1, MED18, TRIT1, GIPC2, SWT1, GDAP2, TENT5C, GON4L, GPATCH4, PALMD, FNBP1L, ST7L, PQLC2, CASZ1, LAX1, RHBDL2, DUSP23, ADPRHL2, TRNAU1AP, ODR4, C1orf109, C1orf56, INTS11, C1orf123, C1orf159, MARC2, AURKAIP1, TTC22, MRPL20, CRYBG2, SUSD4, KIF26B, TMEM51, RALGPS2, GPATCH2, BSDC1, XKR8, TMEM39B, PRPF38B, HEATR1, CDCA8, LRRC8D, MSTO1, DARS2, ARHGEF10L, PRMT6, RNF220, VPS13D, EVA1B, GOLPH3L, ATAD3A, MACO1, KLHDC8A, TRIM62, ETNK2, RAVER2, PANK4, KIRREL1, TMEM206, YY1AP1, ECHDC2, FGGY, MCOLN3, SLC22A15, YOD1, CAMK2N1, BATF3, SLC30A10, UBE2Q1, RNPC3, ITLN1, ASAP3, POMGNT1, PNRC2, LRRC40, DEPDC1, PIGV, ZNF692, NBPF1, IARS2, MAP7D1, IPO9, NDC1, NECAP2, IQCC, C1orf112, HHAT, DNAJC11, ENAH, NUP133, RCOR3, INAVA, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, INKA2, DMAP1, AJAP1, GNG12, SLC50A1, TMEM234, MTFR1L, SERTAD4, KYAT3, ERO1B, FMN2, SLAMF8, CDC42SE1, UBQLN4, TMEM167B, OLFML3, SMYD2, LHX9, OTUD7B, COQ8A, CTNNBIP1, RSRP1, AGTRAP, PITHD1, RAB25, PGLYRP4, ZNF695, RHBG, MAN1C1, SCYL3, GJC2, CAMK1G, NIPAL3, SELENON, ATP8B2, VANGL2, PBXIP1, S100A14, PLEKHG5, GATAD2B, AMIGO1, LRRC47, ODF2L, CGN, KIAA1324, DISP3, IGSF9, LRRC7, SIPA1L2, KIF17, ZNF687, ZSWIM5, POGK, KIAA1522, HCN3, CACHD1, MIER1, KIAA1614, BRINP2, HES4, CCDC181, GRHL3, SLAMF7, ZP4, CADM3, PTBP2, RHOU, PRUNE1, DNASE2B, DLGAP3, IL22RA1, HIVEP3, KLHL12, LGR6, GPBP1L1, HAPLN2, MIIP, GAS5, PAPPA2, CELA2A, BCAN, GPATCH3, TNN, MRPS14, DMRTB1, DMRTA2, CLSPN, PRDM16, OXCT2, RRAGC, ADGRL4, TINAGL1, P3H1, TFB2M, SEMA4A, TOR3A, COP1, GREM2, RGS18, PLA2G2F, MFSD14A, NUCKS1, SMAP2, ACBD3, SMYD3, ATPAF1, MARC1, S100PBP, MEAF6, RBM15, EXO5, CEP85, ARV1, NMNAT1, ELOVL1, AIDA, VWA1, DCLRE1B, MRPS15, MRPL9, PINK1, JMJD4, MARCKSL1, PRAMEF1, PRAMEF2, INTS3, NADK, ZFP69B, COA7, PHACTR4, AUNIP, SCNM1, ERI3, C1orf50, WDR77, C1orf116, CCDC28B, C1orf35, EFHD2, MMEL1, CPLANE2, FCRL2, NKAIN1, TTC13, EPS8L3, CDC73, MRPL24, MUL1, PGBD5, TNFAIP8L2, C1orf54, TMEM53, AKIRIN1, HECTD3, BEND5, VTCN1, YRDC, ZYG11B, NOL9, PPCS, LIN28A, SH3D21, TTLL7, SNIP1, C1orf115, HHIPL2, VASH2, AGMAT, WDR78, ZMYM1, ZNF669, RPAP2, ZNF672, MORN1, FAM110D, KIAA0319L, DHDDS, PAQR6, DENND2D, WLS, PCNX2, GPR157, TRIM46, MROH9, RPF1, SIKE1, ZC3H12A, SPSB1, TARS2, WDR26, TRIM45, EDEM3, FLAD1, TRAF3IP3, CPTP, ZNF436, TAS1R2, TAS1R1, SH3BP5L, NPL, GJA9, OR6N2, OR6K2, OR2L5, OR2G3, OR2G2, OR2C3, SYNC, CFHR5, TRIM11, C1orf21, ACTL8, ANKRD13C, NECTIN4, SNX27, ANP32E, SHCBP1L, TRMT1L, TSSK3, CCNL2, NUAK2, VANGL1, ST6GALNAC5, ISG20L2, HYI, FCRL5, FCRL4, SH3BGRL3, DDX59, NUF2, RASSF5, SESN2, ESPN, TAS1R3, ATAD3B, HMCN1, GPR61, MIXL1, STK40, SPRTN, TM2D1, FCAMR, REG4, OBSCN, TMEM222, TEX35, PLEKHN1, HORMAD1, TOMM40L, SYDE2, ZNF644, USP48, ZMYND12, NBPF3, LRRC8C, ZDHHC18, SGIP1, POLR3GL, SLC25A33, TMEM79, NTPCR, EFCAB2, DDI2, ACBD6, LZIC, PROK1, MAP3K21, EFCAB7, ZBTB37, NT5C1A, LCE3D, TRIM63, PSRC1, FAM167B, FCRLA, ZNF496, HPDL, AGBL4, MFSD2A, C1orf198, PPP1R15B, ATG4C, MAEL, PRPF38A, SYTL1, IGSF21, LSM10, C1orf94, DISP1, STRIP1, RGS8, SLC45A3, DOCK7, CFAP74, WNT3A, NAV1, SEC16B, AQP10, LHX4, SLAMF9, KIAA2013, THAP3, STPG1, PYGO2, ANGEL2, SPOCD1, ZNF697, IGFN1, NUP210L, BTF3L4, UBXN11, NEXN, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, TMEM183A, HIST3H2A, PIGM, IGSF8, C1orf158, LEMD1, ZNF670, FBXO44, ATP5IF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, TENT5B, COX20, RBP7, TSEN15, FAM129A, SNAP47, ACAP3, TADA1, THEM4, SH2D1B, SSX2IP, UBE2J2, OLFM3, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KDF1, CCSAP, LRRC38, AADACL3, PUSL1, B3GALT6, WDR63, KLHDC9, AXDND1, MAB21L3, IFFO2, HIST2H3C, SLC44A3, ATXN7L2, C1orf194, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, ATP6V1G3, ASB17, TYW3, ERICH3, LRRIQ3, TPRG1L, FAM213B, MYOM3, DMBX1, OR10J5, TMCO2, ZNF684, TCEANC2, PODN, LRRC39, GJB4, HMGB4, RNF19B, A3GALT2, DCST2, DNAH14, OR2B11, ZNF648, TEDDM1, C1orf122, OSCP1, C1orf216, KLHDC7A, VWA5B1, UBXN10, C1orf87, ARL8A, SYT2, GOLT1A, UHMK1, FCRLB, WDR64, C1orf131, LIX1L, SPATA17, EDARADD, KLF17, TMEM125, TSACC, IQGAP3, NAXE, ARHGEF19, MRPL55, HIST3H2BB, DRAM2, PIFO, C1orf162, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, TATDN3, S100A16, NEK7, ACTRT2, MIB2, ITLN2, SYT6, C1orf74, CREB3L4, C1orf127, BROX, SAMD11, SAMD13, C1orf52, PHF13, CIART, TMEM56, NBPF4, UBE2U, SLC35F3, HJV, ANKRD35, FAM163A, B3GALNT2, MFSD4A, PM20D1, GCSAML, SLC30A7, CCDC27, KNCN, MOB3C, GLIS1, NBPF12, LELP1, RC3H1, DCDC2B, ZNF362, DCST1, CNIH3, MANEAL, IL23R, METTL11B, FAM78B, SHISA4, EXOC8, PDIK1L, BNIPL, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CCDC17, LRRC71, SRARP, RNF187, PYHIN1, SPATA45, FAM71A, SLC2A7, DENND2C, GBP6, FNDC7, DENND1B, TDRD5, TOR1AIP2, CALML6, IFNLR1, CITED4, LEXM, SPRR4, KANK4, SASS6, SDE2, CNST, FAM43B, HFM1, PAQR7, TTC24, CCDC185, UBL4B, AGO3, AGO4, LCE4A, ALG14, FAM76A, FYB2, TMEM201, TMEM61, CYP4Z1, FAAP20, CDCP2, SLC5A9, CC2D1B, NBPF11, NUDT17, TXLNA, TCTEX1D1, PLD5, C1orf100, SPAG17, SLFNL1, KRTCAP2, CRTC2, IBA57, HIPK1, SLC44A5, ATAD3C, AKR7L, TMEM9, FNDC5, EPHX4, TTLL10, AKNAD1, SLC41A1, OR2T6, LCE5A, TMCO4, MCOLN2, COL24A1, PCSK9, SYT14, ST6GALNAC3, CATSPERE, ZNF683, ARHGAP30, CFAP126, NEGR1, ASPM, MDS2, CYP4X1, MAGI3, TIPRL, NPHP4, BEST4, PGBD2, FAM19A3, RIIAD1, THEM5, C1orf167, OR2L13, SLC9C2, OR14A16, CYP4A22, C1orf185, NBPF15, FAM102B, SYPL2, CYB561D1, ANKRD34A, RUSC1-AS1, RSPO1, EPHA10, SNHG28, SPATA46, ZNF326, BTBD8, RIMKLA, SLC25A34, LIN9, VN1R5, HIST2H2AB, PPM1J, HIST2H3A, FAM151A, S100A7A, LINGO4, RXFP4, ANKRD45, C1orf174, KLHL17, TMEM240, TMEM52, BRINP3, ZBTB8OS, TFAP2E, ZNF678, PRSS38, CCDC190, ARMH1, ZFP69, RD3, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, CCDC18, OR6F1, OR2W3, OR2T8, OR2T3, MYBPHL, OR10R2, FCRL6, KCNT2, BARHL2, NBPF7, TCTEX1D4, OR2T29, SERINC2, SHISAL2A, FAM131C, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PADI6, RGSL1, BMP8A, IRF2BP2, ZBTB41, DRAXIN, SPATA21, SVBP, TEX38, MROH7, MIGA1, PEAR1, SFT2D2, MIA3, STUM, FAM89A, AGRN, CENPS, CATSPER4, NSUN4, GPR153, ILDR2, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, TRNP1, CD164L2, TRABD2B, LDLRAD1, GBP7, C1orf146, FAM69A, SLC6A17, NOTCH2NL, LYSMD1, HRNR, FLG2, C1orf189, C1orf53, TMEM81, CAPN8, COA6, C1orf229, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, FRRS1, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, TMEM200B, PRAMEF4, PRAMEF13, SH2D5, NCMAP, C1orf141, C1orf226, NBPF9, FAM177B, RNF223, LDLRAD2, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, APOBEC4, MIR101-1, MIR137, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR181A1, MIR214, MIR215, MIR29C, MIR30C1, MIR34A, MIR9-1, RGS21, LHX8, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, FAM183A, ZYG11A, BCL2L15, HIST2H2BF, ETV3L, LRRC52, RHEX, TRIM67, MAP1LC3C, ANKRD65, PRAMEF7, OR10J3, OR2W5, OR13G1, KPRP, LCE6A, RBMXL1, LURAP1, PEF1, MIR429, FAM72C, HIST2H4B, PRR9, C1orf147, CYB5RL, MIR205HG, FLVCR1-DT, KIAA0754, TMEM88B, FNDC10, PPIAL4G, PPIAL4D, PRAMEF19, PRAMEF20, MT1HL1, S100A7L2, LACTBL1, LYPD8, SRGAP2B, ASCL5, ZBTB8A, NBPF6, SRGAP2C, PPIAL4A, GPR89A, PPIAL4C, HIST2H3D, PRAMEF22, PRAMEF15, FAM72B, PRAMEF16, PCP4L1, MIR551A, HIST2H2AA4, ZBTB8B, CCDC30, CDK11A, SLC35E2B, FAM72D, NBPF8, PPIAL4F, TEX46, FAM72A, PPIAL4E, FAM229A, MIR29B2CHG, BTNL10, C1orf68, TSTD1, FOXO6, LINC01783, NBPF10, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, ZBED6, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, CENPS-CORT, FPGT-TNNI3K, PMF1-BGLAP, MINOS1-NBL1, DNM3OS, NEGR1-IT1, ZRANB2-AS2, LINC00538, FALEC, LINC00853, LOC100996263, LOC101927434, LOC101927851, LOC101928034, LINC01649, LOC101929516
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
11.
GRCh37:
Chr1:61351024-79583933
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
12.
GRCh37:
Chr1:61785602-67430956
See casesPathogenicno assertion criteria provided
13.
GRCh37:
Chr1:55791287-63405767
See casesPathogenicno assertion criteria provided
14.
GRCh37:
Chr1:53253175-67805556
GRCh38:
Chr1:52787503-67339873
See casesLikely pathogenic
(May 7, 2013)
no assertion criteria provided
15.
GRCh37:
Chr1:54092945-64714537
GRCh38:
Chr1:53627272-64248854
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
16.
GRCh37:
Chr1:59285277-86564294
GRCh38:
Chr1:58819605-86098611
ACADM, AK4, CRYZ, CTBS, CTH, CYP2J2, GADD45A, GNG5, CYR61, IL12RB2, JAK1, LEPR, MSH4, NFIA, ROR1, PDE4B, PGM1, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, USP1, FPGT, FUBP1, BCL10, DIRAS3, SRSF11, ZRANB2, DNAJC6, INSL5, PIGK, PATJ, IFI44, IFI44L, DNAJB4, HHLA3, USP33, SLC35D1, ADGRL2, ITGB3BP, LPAR3, DDAH1, ZZZ3, SERBP1, AK5, SNORD45B, SNORD45A, FOXD3, ANGPTL3, ALG6, TNNI3K, HOOK1, L1TD1, ZNHIT6, LEPROT, GIPC2, RAVER2, FGGY, MCOLN3, LRRC40, DEPDC1, GNG12, LRRC7, CACHD1, MIER1, DNASE2B, ADGRL4, DLEU2L, TTLL7, WDR78, WLS, RPF1, ANKRD13C, ST6GALNAC5, TM2D1, SYDE2, SGIP1, EFCAB7, ATG4C, DOCK7, NEXN, SSX2IP, WDR63, ASB17, TYW3, ERICH3, LRRIQ3, C1orf87, SAMD13, C1orf52, UBE2U, MGC27382, IL23R, KANK4, LINC00466, TCTEX1D1, SLC44A5, MCOLN2, COL24A1, ST6GALNAC3, NEGR1, MIGA1, NEXN-AS1, C1orf141, MIR101-1, MIR186, LHX8, LINC01555, NFIA-AS1, LOC646626, SNORD45C, HSD52, LINC01135, ZRANB2-AS1, GNG12-AS1, MIR1262, MIR3117, MIR3116-1, MIR3116-2, MIR3671, SPATA1, FPGT-TNNI3K, MIR4794, MIR4711, MIR4423, NEGR1-IT1, ZRANB2-AS2, FOXD3-AS1, NFIA-AS2, LINC01358, LOC101926944, LOC101926964, ROR1-AS1, LINC01359, LOC101927139, DEPDC1-AS1, LINC01788, LINC01360, ERICH3-AS1, LOC101927342, LINC01781, LOC101927434, LINC01361, LINC01712, LOC101927560, LINC01725, MIR6068, MIR7156, LINC01362, LINC01461, LINC01748, LINC01739, LINC01707, LINC01758, LRRC53, LOC107983962, LINC02238, LOC110120599, LOC110120600, LOC110120659, LOC110120683, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121238, LINC02567, LOC111501769
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
17.
GRCh37:
Chr1:59285277-69572791
GRCh38:
Chr1:58819605-69107108
See casesPathogenic
(Aug 18, 2010)
no assertion criteria provided
18.
GRCh37:
Chr1:60226528-72043735
GRCh38:
Chr1:59760856-71578052
See casesPathogenic
(Apr 23, 2013)
no assertion criteria provided
19.
GRCh37:
Chr1:60098172-77196562
GRCh38:
Chr1:59632500-76730877
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr1:57816246-71791607
GRCh38:
Chr1:57350574-71325924
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
21.
GRCh37:
Chr1:62388322-66911440
GRCh38:
Chr1:61922650-66445757
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr1:53061024-77233450
GRCh38:
Chr1:52595352-76767765
ACADM, AK4, C8A, C8B, CPT2, CRYZ, CTH, CYP2J2, DAB1, GADD45A, DHCR24, DIO1, GPX7, IL12RB2, JAK1, JUN, LEPR, TACSTD2, MAGOH, MSH4, NFIA, ROR1, PDE4B, PGM1, PRKAA2, PTGER3, RABGGTB, RPE65, SCP2, SLC1A7, TTC4, USP1, LRP8, BSND, PLPP3, FPGT, DIRAS3, SRSF11, ZRANB2, TMEM59, DNAJC6, INSL5, PATJ, HHLA3, SLC35D1, USP24, ITGB3BP, SSBP3, PARS2, ACOT11, SERBP1, SNORD45B, SNORD45A, FOXD3, ANGPTL3, ALG6, TNNI3K, MRPL37, HOOK1, HSPB11, YIPF1, L1TD1, LEPROT, C1orf123, TTC22, RAVER2, ECHDC2, FGGY, LRRC40, DEPDC1, NDC1, GNG12, LRRC7, CACHD1, MIER1, DMRTB1, COA7, DLEU2L, ZYG11B, WDR78, WLS, ANKRD13C, TM2D1, SGIP1, EFCAB7, ATG4C, DOCK7, MYSM1, OMA1, LRRC42, ASB17, TYW3, ERICH3, LRRIQ3, TCEANC2, PODN, C1orf87, UBE2U, GLIS1, IL23R, LEXM, KANK4, LINC00466, FYB2, TMEM61, CDCP2, TCTEX1D1, SLC44A5, PCSK9, ST6GALNAC3, NEGR1, FAM151A, SHISAL2A, MROH7, LDLRAD1, C1orf141, MIR101-1, MIR186, LHX8, ZYG11A, CYB5RL, SSBP3-AS1, NFIA-AS1, SNORD45C, HSD52, LINC01135, ZRANB2-AS1, GNG12-AS1, MIR1262, MIR3117, MIR3116-1, MIR3116-2, MIR3671, LOC100507564, LOC100507634, FPGT-TNNI3K, MROH7-TTC4, MIR1273G, MIR1273F, MIR4422, MIR4781, MIR4794, MIR4711, MIR5095, NEGR1-IT1, ZRANB2-AS2, FOXD3-AS1, NFIA-AS2, DAB1-AS1, LINC01358, LOC101926944, LOC101926964, ROR1-AS1, LINC01359, LOC101927139, DEPDC1-AS1, LINC01788, LINC01360, ERICH3-AS1, LOC101927342, LOC101929935, MIR6068, LINC01771, LINC01755, LINC01753, LINC01767, LINC01748, LINC01739, LINC01707, LINC01758, LRRC53, LOC107983962, MIR4422HG, LINC02238, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LINC02567, LOC111501769
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr1:61723918-63655037
GRCh38:
Chr1:61258246-63189366
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr1:60939472-71410638
GRCh38:
Chr1:60473800-70944955
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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