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Associated Genes: 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 H1-2 H1-3 H1-4 H1-5 H1-6 H2AC8 H2AC7 H2BC5 H2BC3 H1-1 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 SKIC2 SLC17A1 SLC22A1 SLC22A3 SLC22A2 SMPD2 SNRPC SOD2 SOX4 SRF SRPK1 SSR1 ELOVL4 TBXT TAF11 MAP3K7 TAP1 TAP2 TAPBP TBCC TBP TCF19 TCF21 TCP1 TCP11 DYNLT2 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 VARS1 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 H4C9 H2AC13 H2AC15 H2AC14 H2AC16 H2AC6 H2AC4 H2AC17 H2BC8 H2BC13 H2BC15 H2BC14 H2BC7 H2BC6 H2BC9 H2BC10 H2BC4 H2BC17 H3C1 H3C4 H3C3 H3C6 H3C11 H3C8 H3C12 H3C10 H3C2 H4C1 H4C4 H4C6 H4C12 H4C11 H4C3 H4C8 H4C2 H4C5 H4C13 H4C7 STX7 DHX16 SUPT3H PEX3 GCM1 DDO RNASET2 KCNK5 STX11 B3GALT4 SNX3 RNGTT RIPK1 CD164 SYNGAP1 CCN6 STK19 IER3 SYNJ2 VNN2 VNN1 PRP4K WASF1 H3C7 H2AC11 H2BC11 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 CEP43 BTN3A2 BTN3A1 BTN2A1 CAPN11 BVES NUDT3 SEC63 NRM STK38 SCAF8 CEP162 CILK1 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 POLR1H CLDN20 NOX3 DEF6 SNHG32 SLC35B3 HDDC2 GMNN MRPL2 TFB1M CYB5R4 TUBE1 MTRES1 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 BLTP3A ELOVL2 CDKAL1 PAK1IP1 RMND1 PHIP SOBP AKIRIN2 CENPQ MRPS18A MRPS10 LRRC1 PHF10 QRSL1 VNN3P 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 ILRUN 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 H2AC12 H2BC12 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 SCAND3 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 LINC03040 RSPH9 LRRC73 OARD1 KIF6 TMEM217 FGD2 PI16 C6orf89 ARMC12 SMIM29 LEMD2 ZBTB9 ZBTB12 C6orf136 H2AC1 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 H2BC1 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 MTCL3 CEP85L C6orf120 THEMIS PSMG4 SFTA2 CLPSL2 BNIP5 GLYATL3 GFRAL LIN28B SAMD5 IYD MUC21 STMND1 MCCD1 SAPCD1 RAB44 LINC00951 CRIP3 KLHL31 TEX56P 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 LINC02901 TOMM6 AIRN ANKRD66 ERVH-3 SYNE1-AS1 SDIM1 SMLR1 LINC02539 MICA MUC22 LOC101926915 LOC101927189
Associated Variants: GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)
Source Database: ClinVar
Description: GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) AND See cases
ClinVar Allele ID: 437159
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2015-07-14
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000510595
Observed Origin Sample: not provided

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