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Items: 12

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:12344-81057996
PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, TLCD3A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, TTC25, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, TMEM88, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, SLC16A13, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXD, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, LINC02693, MSL1, CD300E, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, C17orf112, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, LOC101927666, AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3F3B, HCRT, HIC1, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, PFN1, PHB, PITPNA, PLD2, SERPINF2, PMP22, PNMT, SEPTIN4, POLR2A, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RCVRN, RFNG, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, TRPV1, VTN, WNT3, WNT9B, YWHAE, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPTIN9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29P, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B
not providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
2.
GRCh37:
Chr17:8547-81060040
CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, TRPV1, VTN, WNT3, WNT9B, YWHAE, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPTIN9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29P, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, TLCD3A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, TTC25, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, TMEM88, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, SLC16A13, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXD, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, LINC02693, MSL1, CD300E, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, C17orf112, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, LOC101927666, AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3F3B, HCRT, HIC1, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, PFN1, PHB, PITPNA, PLD2, SERPINF2, PMP22, PNMT, SEPTIN4, POLR2A, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RCVRN, RFNG, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
3.
GRCh37:
Chr17:7214-81058310
AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3F3B, HCRT, HIC1, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, PFN1, PHB, PITPNA, PLD2, SERPINF2, PMP22, PNMT, SEPTIN4, POLR2A, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RCVRN, RFNG, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, TRPV1, VTN, WNT3, WNT9B, YWHAE, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPTIN9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29P, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, TLCD3A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, TTC25, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, TMEM88, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, SLC16A13, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXD, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, LINC02693, MSL1, CD300E, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, C17orf112, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, LOC101927666
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
4.
GRCh37:
Chr17:32351496-34455576
not providedUncertain significance
(Jan 22, 2018)
no assertion criteria provided
5.
GRCh37:
Chr17:31958240-32937658
ASIC2, CCL1, CCL2, CCL7, CCL8, CCL11, CCL13, TMEM132E, C17orf102See casesUncertain significance
(May 5, 2014)
no assertion criteria provided
6.
GRCh37:
Chr17:526-81041938
SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, TRPV1, VTN, WNT3, WNT9B, YWHAE, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPTIN9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29P, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, TLCD3A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, TTC25, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, TMEM88, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, SLC16A13, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXD, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, LINC02693, MSL1, CD300E, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, C17orf112, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, LOC101927666, AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3F3B, HCRT, HIC1, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, PFN1, PHB, PITPNA, PLD2, SERPINF2, PMP22, PNMT, SEPTIN4, POLR2A, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RCVRN, RFNG, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
7.
GRCh37:
Chr17:526-81041938
AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3F3B, HCRT, HIC1, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MLLT6, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, PFN1, PHB, PITPNA, PLD2, SERPINF2, PMP22, PNMT, SEPTIN4, POLR2A, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RCVRN, RFNG, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, TRPV1, VTN, WNT3, WNT9B, YWHAE, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPTIN9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29P, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, TLCD3A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, TTC25, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, TMEM88, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, SLC16A13, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXD, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, LINC02693, MSL1, CD300E, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, C17orf112, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, LOC101927666
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
8.
GRCh37:
Chr17:31958240-32937658
ASIC2, CCL1, CCL2, CCL7, CCL8, CCL11, CCL13, TMEM132E, C17orf102See casesUncertain significanceno assertion criteria provided
9.
GRCh37:
Chr17:31982779-32917705
ASIC2, CCL1, CCL2, CCL7, CCL8, CCL11, CCL13, TMEM132E, C17orf102See casesUncertain significanceno assertion criteria provided
10.
GRCh37:
Chr17:31998125-32922906
GRCh38:
Chr17:33671106-34595887
See casesLikely benign
(Apr 30, 2011)
no assertion criteria provided
11.
GRCh37:
Chr17:31998116-32923001
GRCh38:
Chr17:33671097-34595982
See casesLikely benign
(Sep 21, 2012)
no assertion criteria provided
12.
GRCh37:
Chr17:31969714-32876230
GRCh38:
Chr17:33642695-34549211
ASIC2, CCL1, CCL2, CCL7, CCL8, CCL11, CCL13, LINC01989, LOC110121437See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
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