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Items: 28

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:161127501
GRCh38:
Chr6:160706469
PLGPlasminogen deficiency, type IPathogenic
(Jan 27, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr6:161127575
GRCh38:
Chr6:160706543
PLGPlasminogen deficiency, type IPathogenic
(Sep 17, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr6:161137699-161137701
GRCh38:
Chr6:160716667-160716669
PLGPlasminogen deficiency, type IPathogenic
(May 15, 1999)
no assertion criteria provided
4.
GRCh37:
Chr6:161137712
GRCh38:
Chr6:160716680
PLGPlasminogen deficiency, type IPathogenic
(May 15, 1999)
no assertion criteria provided
5.
GRCh37:
Chr6:161143463
GRCh38:
Chr6:160722431
PLGDysplasminogenemiaPathogenic
(Jan 1, 1991)
no assertion criteria provided
6.
GRCh37:
Chr6:161152261
GRCh38:
Chr6:160731229
PLGPlasminogen deficiency, type IPathogenic
(Dec 3, 1998)
no assertion criteria provided
7.
GRCh37:
Chr6:161152807
GRCh38:
Chr6:160731775
PLGPlasminogen deficiency, type IUncertain significance
(Nov 3, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr6:161158008
GRCh38:
Chr6:160736976
PLGDysplasminogenemiaPathogenic
(Jul 15, 1993)
no assertion criteria provided
9.
GRCh37:
Chr6:161159615
GRCh38:
Chr6:160738583
PLGPlasminogen deficiency, type IPathogenic
(Aug 1, 1997)
no assertion criteria provided
10.
GRCh37:
Chr6:161159625
GRCh38:
Chr6:160738593
PLGPlasminogen deficiency, type I, DysplasminogenemiaConflicting interpretations of pathogenicity
(Mar 18, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr6:161162450
GRCh38:
Chr6:160741418
PLGPlasminogen deficiency, type IPathogenic
(May 15, 1999)
no assertion criteria provided
12.
GRCh37:
Chr6:161173272
GRCh38:
Chr6:160752240
PLGDysplasminogenemiaPathogenic
(Dec 1, 1998)
no assertion criteria provided
13.
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, CTGF, 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, MUT, 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, WISP3, 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, C6orf10, 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, DOPEY1, 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
14.
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, CTGF, 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, MUT, 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, WISP3, 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, C6orf10, 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, DOPEY1, 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
15.
GRCh37:
Chr6:151214792-170892243
See casesPathogenicno assertion criteria provided
16.
GRCh37:
Chr6:159006756-161320815
GRCh38:
Chr6:158585724-160899783
See casesUncertain significance
(Oct 22, 2013)
no assertion criteria provided
17.
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
18.
GRCh37:
Chr6:152697473-170921089
GRCh38:
Chr6:152376338-170612001
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
19.
GRCh37:
Chr6:153114537-170919482
GRCh38:
Chr6:152793402-170610394
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
20.
GRCh37:
Chr6:160336422-171023595
GRCh38:
Chr6:159915390-170714507
See casesPathogenic
(Sep 17, 2012)
no assertion criteria provided
21.
GRCh37:
Chr6:155699183-163554531
GRCh38:
Chr6:155378049-163133499
See casesPathogenic
(Oct 7, 2011)
no assertion criteria provided
22.
GRCh37:
Chr6:154860789-171023595
GRCh38:
Chr6:154539655-170714507
See casesPathogenic
(Apr 14, 2011)
no assertion criteria provided
23.
GRCh37:
Chr6:160905842-170921099
GRCh38:
Chr6:160484810-170612011
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
24.
GRCh37:
Chr6:160780718-170917906
GRCh38:
Chr6:160359686-170608818
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
25.
GRCh37:
Chr6:160246945-170921089
GRCh38:
Chr6:159825913-170612001
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr6:159875671-170921089
GRCh38:
Chr6:159454639-170612001
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr6:154439193-170911240
GRCh38:
Chr6:154118058-170602152
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr6:141454127-169739666
GRCh38:
Chr6:141132990-169339571
ACAT2, CCR6, ESR1, FUCA2, GPR31, GRM1, HIVEP2, IGF2R, KIF25, LPA, MAS1, MAP3K4, AFDN, NMBR, OPRM1, PRKN, PCMT1, PLAGL1, PLG, RPS6KA2, SLC22A1, SLC22A3, SLC22A2, SOD2, TBXT, TCP1, TCP10, DYNLT1, THBS2, UTRN, EZR, VIP, EPM2A, PEX3, RNASET2, STX11, SYNJ2, LATS1, QKI, WTAP, AKAP12, PHACTR2, UST, PDE10A, RAB32, KATNA1, FGFR1OP, SCAF8, TAB2, SASH1, SYNE1, MTHFD1L, IPCEF1, TIAM2, LINC01558, FBXO5, RGS17, MRPL18, CLDN20, NOX3, TFB1M, AIG1, SNX9, VTA1, MPC1, UNC93A, MTRF1L, RMND1, AGPAT4, TULP4, HYMAI, ADGRG6, PLEKHG1, ARID1B, TMEM181, ZBTB2, SMOC2, ULBP3, ARMT1, ZDHHC14, ADGB, FRMD1, AGPAT4-IT1, CCDC170, MYCT1, ULBP2, ULBP1, PPP1R14C, SF3B5, RSPH3, TTLL2, FBXO30, FNDC1, LRP11, LTV1, SERAC1, PPIL4, LINC00473, SYTL3, SFT2D1, GINM1, TAGAP, ADAT2, STXBP5, PACRG, RAET1E, LOC153910, ZC2HC1B, CNKSR3, RAET1L, PNLDC1, DACT2, C6orf118, SHPRH, PHACTR2-AS1, PACRG-AS1, PRR18, ZC3H12D, NUP43, RAET1G, SUMO4, SAMD5, IYD, DKFZp451B082, TCP10L2, LINC02538, GTF2H5, LINC00602, LINC02487, LOC441179, LOC645967, AFDN-DT, SNORA20, SNORA29, STXBP5-AS1, TMEM242, PACRG-AS3, LOC729681, GJE1, HGC6.3, UST-AS1, SOD2-OT1, C6orf99, TRL-TAA1-1, TRQ-TTG4-1, AIRN, LOC100289495, MIR1913, MIR1202, MIR1273C, MIR3918, MIR3939, MIR3692, SYNE1-AS1, SDIM1, KIF25-AS1, LINC01277, LOC100507557, CAHM, MIR4466, RAET1E-AS1, RPS6KA2-AS1, SYNJ2-IT1, RPS6KA2-IT1, EZR-AS1, LOC101928661, LOC101929122, PACRG-AS2, LOC101929297, LOC101929420, LOC101929460, LINC01615, LINC02544, LOC101929523, MIR7161, LOC102723831, LINC02529, LOC102724152, LOC102724357, LOC105378047, TAB2-AS1, LOC105378052, LOC105378068, LOC105378098, MEAT6, LOC105378123, LOC105378127, LOC105378137, LOC105378146, LUADT1, SNORA98, LOC107403234, LOC108254680, LOC108348020, SNORD28B, SNORA116, LOC110121075, LOC110121225, LOC110121231, LOC111828525, LOC111828526
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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