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Items: 6

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:156975-170919482
ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPB41L2, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, LTB, MARCKS, MAK, MAN1A1, MAS1, MCM3, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MOG, MSH5, MMUT, MYB, MYO6, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PCMT1, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS6KA2, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TAP1, TAP2, TAPBP, TBCC, TBP, TCF19, TCF21, TCP1, TCP10, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, CRISP2, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, TRDN, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, AGPAT1, SLC35A1, SCGN, DNPH1, TSBP1, FARS2, FUT9, CNPY3, TRAF3IP2, HBS1L, SLC17A3, RPP40, FRS3, PDE10A, SLC22A7, HCP5, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, RAB32, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, NRM, STK38, SCAF8, CEP162, ICK, ENPP4, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, C6orf48, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, GPSM3, FKBPL, KIF13A, PERP, SMOC2, POPDC3, ZSCAN31, ALDH8A1, C6orf106, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, C6orf62, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, TUBB, C6orf163, AK9, NT5DC1, CALHM4, ZUP1, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, NCR3, LY6G6F, OFCC1, MDGA1, ADGRF1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, C6orf222, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, DEFB133, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
2.
GRCh37:
Chr6:156975-170919482
ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPB41L2, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, LTB, MARCKS, MAK, MAN1A1, MAS1, MCM3, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MOG, MSH5, MMUT, MYB, MYO6, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PCMT1, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS6KA2, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TAP1, TAP2, TAPBP, TBCC, TBP, TCF19, TCF21, TCP1, TCP10, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, CRISP2, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, TRDN, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, AGPAT1, SLC35A1, SCGN, DNPH1, TSBP1, FARS2, FUT9, CNPY3, TRAF3IP2, HBS1L, SLC17A3, RPP40, FRS3, PDE10A, SLC22A7, HCP5, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, RAB32, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, NRM, STK38, SCAF8, CEP162, ICK, ENPP4, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, C6orf48, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, GPSM3, FKBPL, KIF13A, PERP, SMOC2, POPDC3, ZSCAN31, ALDH8A1, C6orf106, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, C6orf62, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, TUBB, C6orf163, AK9, NT5DC1, CALHM4, ZUP1, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, NCR3, LY6G6F, OFCC1, MDGA1, ADGRF1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, C6orf222, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, DEFB133, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
3.
GRCh37:
Chr6:133077239-143761582
See casesPathogenic
(Sep 12, 2014)
no assertion criteria provided
4.
GRCh37:
Chr6:133858409-166289033
GRCh38:
Chr6:133537271-165875545
ACAT2, ESR1, FUCA2, GRM1, HIVEP2, IFNGR1, IGF2R, LPA, MAS1, MAP3K4, MAP3K5, MYB, NMBR, OPRM1, PRKN, PCMT1, PEX7, PLAGL1, PLG, SGK1, SLC22A1, SLC22A3, SLC22A2, SOD2, TCF21, TCP1, DYNLT1, TNFAIP3, UTRN, EZR, VIP, EPM2A, PEX3, STX11, SYNJ2, MAP7, LATS1, QKI, TBPL1, WTAP, AKAP12, PHACTR2, BCLAF1, UST, CITED2, HBS1L, PDE10A, RAB32, KATNA1, SCAF8, TAB2, SASH1, SYNE1, HEBP2, CCDC28A, MTHFD1L, IPCEF1, TIAM2, FBXO5, RGS17, PDE7B, MRPL18, CLDN20, NOX3, TFB1M, AIG1, SNX9, VTA1, HECA, IL20RA, MTRF1L, AHI1, RMND1, AGPAT4, TULP4, HYMAI, ADGRG6, ARFGEF3, NHSL1, PLEKHG1, ARID1B, TMEM181, ZBTB2, ABRACL, PBOV1, PERP, ALDH8A1, ULBP3, ARMT1, ZDHHC14, ADGB, AGPAT4-IT1, CCDC170, MYCT1, ULBP2, ULBP1, PPP1R14C, SF3B5, RSPH3, FBXO30, FNDC1, LRP11, LTV1, SERAC1, REPS1, PPIL4, SYTL3, MTFR2, GINM1, IL22RA2, TAGAP, ADAT2, STXBP5, PACRG, RAET1E, LOC153910, ZC2HC1B, CNKSR3, RAET1L, LINC01312, SLC2A12, LINC01010, PNLDC1, OLIG3, TXLNB, C6orf118, SHPRH, PHACTR2-AS1, PACRG-AS1, SLC35D3, ZC3H12D, ECT2L, NUP43, RAET1G, SUMO4, SAMD5, IYD, DKFZp451B082, GTF2H5, FLJ46906, LOC644135, LINC01625, LOC645967, SNORA20, SNORA29, MIR548A2, STXBP5-AS1, TMEM242, PACRG-AS3, GJE1, UST-AS1, SOD2-OT1, LOC100130476, C6orf99, LINC00271, FILNC1, TRL-TAA1-1, TRQ-TTG4-1, AIRN, NHEG1, MIR1202, MIR1273C, MIR3145, MIR3918, MIR3668, MIR3662, MIR3692, SYNE1-AS1, TARID, LINC02539, GVQW2, LOC100507477, LINC01277, LOC100507557, CAHM, MIR4466, MIR4465, RAET1E-AS1, SYNJ2-IT1, EZR-AS1, LOC101928231, LOC101928304, LOC101928429, LOC101928461, LOC101928661, LOC101929122, PACRG-AS2, MIR7161, LOC102723649, LOC102723831, LINC02529, LOC102724152, LOC103352541, LINC02528, LOC105378047, TAB2-AS1, LOC105378052, LOC105378068, LOC105378098, MEAT6, LUADT1, SNORA98, LOC107403234, LOC108169207, LOC108281144, LOC108348020, SNORD28B, SNORA116, LOC110121073, LOC110121075, LOC110121174, LOC110121225, LOC110121231, SMIM28, LOC111413038, LOC111413040, LOC111589214, LOC111828525, LOC111828526
See casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
5.
GRCh37:
Chr6:75092523-142361637
GRCh38:
Chr6:74382807-142040500
CRYBG1, AMD1, ARG1, BCKDHB, PRDM1, CCNC, CGA, CNR1, COL10A1, COL12A1, COX7A2, CCN2, EPB41L2, EPHA7, EYA4, FABP7, FOXO3, FRK, FYN, GABRR1, GABRR2, GJA1, GPR6, GRIK2, HDAC2, HSF2, HTR1B, HTR1E, IFNGR1, IMPG1, KPNA5, LAMA2, LAMA4, MARCKS, MAN1A1, ME1, MAP3K5, MYB, MYO6, NT5E, ENPP1, ENPP3, PEX7, PGM3, PLN, POU3F2, PREP, PKIB, PTPRK, REV3L, ROS1, RPS12, SGK1, SIM1, SMPD2, ELOVL4, MAP3K7, TCF21, NR2E1, TNFAIP3, TPBG, TPD52L1, TSPYL1, TTK, RNF217-AS1, STX7, DDO, SNX3, RNGTT, CD164, CCN6, VNN2, VNN1, WASF1, TAAR5, MAP7, TBX18, TAAR2, HMGN3, MED23, FHL5, AKAP7, ATG5, TBPL1, KIAA0408, BCLAF1, ZBTB24, SNAP91, FIG4, CASP8AP2, TRDN, CITED2, SYNCRIP, SLC35A1, FUT9, TRAF3IP2, HBS1L, SMPDL3A, PNRC1, ASCC3, BVES, SEC63, CEP162, ANKRD6, DOP1A, ZNF292, CDK19, MDN1, TSPYL4, UFL1, HEY2, HEBP2, ORC3, ASF1A, CCDC28A, PNISR, IBTK, MOXD1, SENP6, FBXL4, SNORD50A, PDE7B, FILIP1, SESN1, OSTM1, NDUFAF4, DSE, HDDC2, CYB5R4, TUBE1, C6orf203, CDC40, RWDD1, UBE2J1, HECA, COQ3, IL20RA, AHI1, PHIP, SOBP, AKIRIN2, QRSL1, VNN3, TENT5A, TMEM30A, ECHDC1, RARS2, PDSS2, GOPC, SMIM8, ARFGEF3, NHSL1, LYRM2, SNX14, SERINC1, HACE1, BEND3, ABRACL, RRAGD, PRDM13, PBOV1, BACH2, TRMT11, LINC01590, PERP, POPDC3, ALDH8A1, MICAL1, OR2A4, FAM184A, MANEA, LCAL1, GPR63, SPACA1, RNF146, TAAR8, SH3BGRL2, ARMC2, RPF2, L3MBTL3, MCHR2, FAXC, GJA10, RTN4IP1, RSPO3, USP45, REPS1, SLC22A16, LINC01621, UBE3D, MFSD4B, ARHGAP18, GTF3C6, MRAP2, RWDD2A, MTFR2, KLHL32, TMEM200A, NUS1, IL22RA2, SLC18B1, SLC16A10, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, NCOA7, HINT3, PM20D2, SRSF12, SAMD3, LINC01312, SLC2A12, LINC01010, RNF217, NKAIN2, CFAP206, BVES-AS1, PRSS35, LCA5, OLIG3, TXLNB, C6orf163, AK9, NT5DC1, CALHM4, ZUP1, FAM162B, TBC1D32, HS3ST5, GPRC6A, RFX6, SLC35F1, VGLL2, AFG1L, TMEM244, MMS22L, CALHM5, MCM9, SCML4, LINC00326, CEP57L1, PPIL6, LINC01268, FLJ34503, DCBLD1, LOC285762, TAAR6, SLC35D3, RSPH4A, ECT2L, C6orf58, GJB7, SNHG5, CENPW, SOGA3, LINC00222, CEP85L, THEMIS, LIN28B, C6orf183, CALHM6, FLJ46906, RFPL4B, SNORD101, SNORD100, SNORA33, FAM229B, TSG1, LINC02523, TRAF3IP2-AS1, CTAGE9, LOC644135, LINC01625, SNORD50B, MIR548A2, MIR548B, MIR587, MIR588, MCHR2-AS1, METTL24, LIN28B-AS1, LOC100126584, TRAPPC3L, LOC100130476, TSTD3, LINC00271, FILNC1, CD24, TRE-CTC1-7, OSTM1-AS1, LOC100287467, HMGN3-AS1, NHEG1, MIR2113, LINC02532, MIR3144, MIR3145, MIR3668, MIR3662, LOC100506804, SMLR1, LINC01013, TARID, LINC02539, GVQW2, LOC100507477, MIR4464, MIR4643, MIR4465, MIR548AJ1, MIR548AI, MIR4463, MIR548H5, UFL1-AS1, C6orf183, MANEA-DT, LOC101927314, LOC101927365, LOC101927640, LINC02541, HDAC2-AS2, LOC101927919, TRDN-AS1, LOC101928140, LOC101928231, LOC101928304, LOC101928429, LOC101928461, LOC101928516, LOC101928540, MEI4, LINC01526, LINC02535, LOC101928911, LOC101928936, LOC101929057, CASC6, ARMC2-AS1, LOC102723649, LINC02542, TBX18-AS1, LOC103352541, NCOA7-AS1, LINC02540, LOC105377879, LINC01611, LOC105377924, LINC02526, LINC02527, LINC02518, LINC02534, LOC105377967, LOC105377975, LINC02528, PNKY, LOC107986532, LINC02531, LOC108169207, LOC108228196, LOC108281144, CRE2, LOC108348029, SNORA40C, SNORD156, SNORD166, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121073, LOC110121109, LOC110121145, LOC110121174, LOC110121188, LOC110121195, LOC110121249, LOC110121273, LOC110121301, SMIM28, LOC111365199, LOC111365204, LOC111413030, LOC111413038, LOC111413040, LOC111429613, LOC111589214
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
6.
GRCh37:
Chr6:135679288-155776251
GRCh38:
Chr6:135358150-155455117
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
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