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Items: 1 to 100 of 859

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:216260061-216270555
USH2Anot providedLikely pathogenic
(Mar 1, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr1:216595426
GRCh38:
Chr1:216422084
USH2Anot providedUncertain significance
(Apr 30, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr1:216465685
GRCh38:
Chr1:216292343
USH2Anot providedUncertain significance
(Feb 28, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr1:216373116
GRCh38:
Chr1:216199774
USH2Anot providedUncertain significance
(Apr 30, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr1:216363596
GRCh38:
Chr1:216190254
USH2Anot providedUncertain significance
(Feb 28, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr1:216270537
GRCh38:
Chr1:216097195
USH2Anot providedUncertain significance
(May 31, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr1:216258089
GRCh38:
Chr1:216084747
USH2A, LOC102723833not providedLikely pathogenic
(Mar 31, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr1:216243460
GRCh38:
Chr1:216070118
USH2Anot providedUncertain significance
(Mar 31, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr1:215956252
GRCh38:
Chr1:215782910
USH2Anot providedUncertain significance
(Feb 28, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr1:215956170
GRCh38:
Chr1:215782828
USH2Anot providedUncertain significance
(Mar 31, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr1:215955431
GRCh38:
Chr1:215782089
USH2Anot providedUncertain significance
(Feb 28, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr1:215940057
GRCh38:
Chr1:215766715
USH2Anot providedUncertain significance
(Mar 31, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr1:215848364
GRCh38:
Chr1:215675022
USH2Anot providedUncertain significance
(Feb 28, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr1:215822044
GRCh38:
Chr1:215648702
USH2Anot providedUncertain significance
(Apr 30, 2017)
criteria provided, single submitter
15.
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, ATP5F1, 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, HSPA7, 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, PIN1P1, 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, SPRR2C, 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, VDAC1P4, 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, MMP23A, 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, CLCA3P, 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, SLC35E2, 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, ZCCHC11, 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, DIEXF, 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, FAM46C, 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, TMEM57, 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, C1orf106, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, FAM212B, 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, RFWD2, 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, RSG1, 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, ATPIF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, GNRHR2, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, FAM46B, 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, HFE2, 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, C1orf228, 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, UOX, 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-AS1, CYMP, 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, PFN1P2, FAM229A, C1orf132, BTNL10, C1orf68, TSTD1, FOXO6, LINC01783, NBPF10, FCGR1CP, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, HYDIN2, ZBED6, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, NBPF5P, 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
16.
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, ATP5F1, 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, HSPA7, 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, PIN1P1, 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, SPRR2C, 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, VDAC1P4, 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, MMP23A, 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, CLCA3P, 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, SLC35E2, 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, ZCCHC11, 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, DIEXF, 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, FAM46C, 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, TMEM57, 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, C1orf106, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, FAM212B, 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, RFWD2, 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, RSG1, 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, ATPIF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, GNRHR2, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, FAM46B, 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, HFE2, 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, C1orf228, 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, UOX, 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-AS1, CYMP, 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, PFN1P2, FAM229A, C1orf132, BTNL10, C1orf68, TSTD1, FOXO6, LINC01783, NBPF10, FCGR1CP, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, HYDIN2, ZBED6, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, NBPF5P, 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
17.
GRCh37:
Chr1:216017633
GRCh38:
Chr1:215844291
USH2Anot specifiedLikely benign
(May 31, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr1:215853512
GRCh38:
Chr1:215680170
USH2Anot specifiedUncertain significance
(May 18, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr1:215847892
GRCh38:
Chr1:215674550
USH2Anot specifiedUncertain significance
(Jan 26, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr1:215990494
GRCh38:
Chr1:215817152
USH2Anot specifiedUncertain significance
(Dec 21, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:215799151
GRCh38:
Chr1:215625809
USH2Anot specifiedUncertain significance
(Sep 28, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:216259365-216318209
USH2ARetinitis pigmentosaLikely pathogenicno assertion criteria provided
23.
GRCh37:
Chr1:216240159-222780953
Usher syndromeLikely pathogenicno assertion criteria provided
24.
GRCh37:
Chr1:216009683-216011948
USH2ARetinitis pigmentosaLikely pathogenicno assertion criteria provided
25.
GRCh37:
Chr1:215958623-215961591
USH2AUsher syndromeLikely pathogenicno assertion criteria provided
26.
GRCh37:
Chr1:215836170-215851932
USH2ARetinitis pigmentosaLikely pathogenicno assertion criteria provided
27.
GRCh37:
Chr1:215803553
GRCh38:
Chr1:215630211
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
28.
GRCh37:
Chr1:215963607
GRCh38:
Chr1:215790265
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
29.
GRCh37:
Chr1:215972249
GRCh38:
Chr1:215798907
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
30.
GRCh37:
Chr1:215972325
GRCh38:
Chr1:215798983
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
31.
GRCh37:
Chr1:215972334-215972347
GRCh38:
Chr1:215798992-215799005
USH2ARetinitis pigmentosa, Usher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
32.
GRCh37:
Chr1:215972422
GRCh38:
Chr1:215799080
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
33.
GRCh37:
Chr1:215987248
GRCh38:
Chr1:215813906
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
34.
GRCh37:
Chr1:216498864
GRCh38:
Chr1:216325522
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
35.
GRCh37:
Chr1:216498895
GRCh38:
Chr1:216325553
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
36.
GRCh37:
Chr1:216019337
GRCh38:
Chr1:215845995
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
37.
GRCh37:
Chr1:216019370
GRCh38:
Chr1:215846028
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
38.
GRCh37:
Chr1:216052380
GRCh38:
Chr1:215879038
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
39.
GRCh37:
Chr1:216061767
GRCh38:
Chr1:215888425
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
40.
GRCh37:
Chr1:216500961
GRCh38:
Chr1:216327619
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
41.
GRCh37:
Chr1:216074190
GRCh38:
Chr1:215900848
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
42.
GRCh37:
Chr1:216221990
GRCh38:
Chr1:216048648
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
43.
GRCh37:
Chr1:216246612
GRCh38:
Chr1:216073270
USH2A, LOC102723833Usher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
44.
GRCh37:
Chr1:216348603
GRCh38:
Chr1:216175261
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
45.
GRCh37:
Chr1:216369924
GRCh38:
Chr1:216196582
USH2ARetinitis pigmentosaPathogenic
(Jan 1, 2015)
no assertion criteria provided
46.
GRCh37:
Chr1:216371711
GRCh38:
Chr1:216198369
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
47.
GRCh37:
Chr1:216371904-216371907
GRCh38:
Chr1:216198562-216198565
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
48.
GRCh37:
Chr1:216390892
GRCh38:
Chr1:216217550
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
49.
GRCh37:
Chr1:216420031
GRCh38:
Chr1:216246689
USH2ARetinal dystrophyLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
50.
GRCh37:
Chr1:215822026
GRCh38:
Chr1:215648684
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
51.
GRCh37:
Chr1:215847503
GRCh38:
Chr1:215674161
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
52.
GRCh37:
Chr1:215847677
GRCh38:
Chr1:215674335
USH2ARetinitis pigmentosaPathogenic
(Jan 1, 2015)
no assertion criteria provided
53.
GRCh37:
Chr1:215847906-215847918
GRCh38:
Chr1:215674564-215674576
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
54.
GRCh37:
Chr1:215847922
GRCh38:
Chr1:215674580
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
55.
GRCh37:
Chr1:215847979
GRCh38:
Chr1:215674637
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
56.
GRCh37:
Chr1:215848127
GRCh38:
Chr1:215674785
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
57.
GRCh37:
Chr1:215848299
GRCh38:
Chr1:215674957
USH2AUsher syndromePathogenic
(Jan 1, 2015)
no assertion criteria provided
58.
GRCh37:
Chr1:215848434
GRCh38:
Chr1:215675092
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
59.
GRCh37:
Chr1:215848558
GRCh38:
Chr1:215675216
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
60.
GRCh37:
Chr1:215848944
GRCh38:
Chr1:215675602
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
61.
GRCh37:
Chr1:215914728
GRCh38:
Chr1:215741386
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
62.
GRCh37:
Chr1:215914734
GRCh38:
Chr1:215741392
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
63.
GRCh37:
Chr1:215916560
GRCh38:
Chr1:215743218
USH2ARetinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
64.
GRCh37:
Chr1:216498735
GRCh38:
Chr1:216325393
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
65.
GRCh37:
Chr1:215956106
GRCh38:
Chr1:215782764
USH2AUsher syndromeLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
66.
GRCh37:
Chr1:216595579
GRCh38:
Chr1:216422237
USH2ARetinitis pigmentosaPathogenic
(Jan 1, 2015)
no assertion criteria provided
67.
GRCh37:
Chr1:216144119-216591855
GRCh38:
Chr1:215970777-216418513
USH2A, LOC102723833Usher syndrome, type 2APathogenic
(Nov 8, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr1:215987203
GRCh38:
Chr1:215813861
USH2Anot specifiedUncertain significance
(Jun 6, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr1:215955440
GRCh38:
Chr1:215782098
USH2Anot providedPathogenic
(Oct 27, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr1:216073471
GRCh38:
Chr1:215900129
USH2Anot specifiedUncertain significance
(May 12, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr1:215824058
GRCh38:
Chr1:215650716
USH2Anot providedLikely pathogenic
(Jun 1, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr1:215853514
GRCh38:
Chr1:215680172
USH2Anot specifiedUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr1:216246437
GRCh38:
Chr1:216073095
USH2A, LOC102723833not providedPathogenic
(Apr 4, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr1:216496989
GRCh38:
Chr1:216323647
USH2Anot providedUncertain significance
(Nov 30, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr1:216465712
GRCh38:
Chr1:216292370
USH2Anot providedUncertain significance
(Nov 30, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr1:216380710
GRCh38:
Chr1:216207368
USH2Anot providedLikely pathogenic
(Jan 31, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr1:216373319
GRCh38:
Chr1:216199977
USH2Anot providedUncertain significance
(Sep 30, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr1:216246313
GRCh38:
Chr1:216072971
USH2A, LOC102723833not providedLikely pathogenic
(Nov 30, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr1:216172332
GRCh38:
Chr1:215998990
USH2Anot providedUncertain significance
(Jan 31, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr1:216061963
GRCh38:
Chr1:215888621
USH2Anot providedUncertain significance
(Sep 30, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr1:216052142
GRCh38:
Chr1:215878800
USH2Anot providedLikely pathogenic
(Sep 30, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr1:215940094-215940095
GRCh38:
Chr1:215766752-215766753
USH2Anot providedLikely pathogenic
(Jun 30, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr1:215914834
GRCh38:
Chr1:215741492
USH2Anot providedUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr1:215848834
GRCh38:
Chr1:215675492
USH2Anot providedUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr1:215848361
GRCh38:
Chr1:215675019
USH2Anot providedUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr1:215847604
GRCh38:
Chr1:215674262
USH2Anot providedUncertain significance
(Oct 31, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr1:215844318
GRCh38:
Chr1:215670976
USH2Anot providedUncertain significance
(Nov 30, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr1:216595438-216595439
Chr1:216373412
GRCh38:
Chr1:216422096-216422097
Chr1:216200070
USH2ANonsyndromic hearing loss and deafnessPathogenic
(Feb 19, 2016)
no assertion criteria provided
89.
GRCh37:
Chr1:216373413
Chr1:215853685
GRCh38:
Chr1:216200071
Chr1:215680343
USH2AUsher syndrome, type 2ALikely pathogenic
(Apr 8, 2013)
no assertion criteria provided
90.
GRCh37:
Chr1:215844615
GRCh38:
Chr1:215671273
USH2Anot specifiedUncertain significance
(Mar 20, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr1:216420352
GRCh38:
Chr1:216247010
USH2Anot specifiedUncertain significance
(Mar 30, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr1:215953384
GRCh38:
Chr1:215780042
USH2Anot providedLikely pathogenic
(Jul 25, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr1:216062398
GRCh38:
Chr1:215889056
USH2Anot providedLikely pathogenic
(May 21, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr1:216246601
GRCh38:
Chr1:216073259
USH2A, LOC102723833not providedLikely pathogenic
(Mar 23, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr1:216371901-216371929
GRCh38:
Chr1:216198559-216198587
USH2Anot providedLikely pathogenic
(May 2, 2017)
criteria provided, single submitter
96.
GRCh37:
Chr1:216052118
GRCh38:
Chr1:215878776
USH2Anot providedPathogenic
(Aug 18, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr1:216061824
GRCh38:
Chr1:215888482
USH2Anot providedPathogenic
(Jul 2, 2015)
criteria provided, single submitter
98.
GRCh37:
Chr1:216373273
GRCh38:
Chr1:216199931
USH2Anot providedPathogenic
(Jul 6, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr1:216370021
GRCh38:
Chr1:216196679
USH2Anot providedPathogenic
(Apr 13, 2015)
criteria provided, single submitter
100.
GRCh37:
Chr1:215853632-215853633
GRCh38:
Chr1:215680290-215680291
USH2Anot providedPathogenic
(Jan 22, 2016)
criteria provided, single submitter
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