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Variant : CV164545 (GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3) Homo sapiens

Symbol: CV164545
Name: GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3
Condition: See cases [RCV000142858]
Clinical Significance: pathogenic
Last Evaluated: 12/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AARD   ABRA   ADAM18   ADAM2   ADAM28   ADAM32   ADAM7   ADAM9   ADAMDEC1   ADCK5   ADCY8   ADGRA2   ADGRB1   ADHFE1   ADRA1A   ADRB3   AGO2   AGPAT5   ALKAL1   ANGPT1   ANGPT2   ANK1   ANKRD46   ANXA13   AP3M2   ARC   ARFGEF1   ARHGAP39   ARHGEF10   ARMC1   ASAH1   ASAP1   ASAP1-IT1   ASAP1-IT2   ASH2L   ASPH   ATAD2   ATP6V0D2   ATP6V1B2   ATP6V1C1   ATP6V1H   AZIN1   AZIN1-AS1   BAALC   BAALC-AS1   BAALC-AS2   BAG4   BHLHE22   BIN3   BIN3-IT1   BLK   BMP1   BNIP3L   BOP1   BRF2   C8orf17   C8orf31   C8orf33   C8orf34   C8orf34-AS1   C8orf37   C8orf37-AS1   C8orf44   C8orf44-SGK3   C8orf48   C8orf49   C8orf58   C8orf74   C8orf76   C8orf82   C8orf86   C8orf87   C8orf88   C8orf89   CA1   CA13   CA2   CA3   CA3-AS1   CA8   CALB1   CASC11   CASC19   CASC21   CASC8   CASC9   CCAR2   CCAT1   CCAT2   CCDC166   CCDC25   CCDC26   CCN3   CCN4   CCNE2   CDCA2   CDH17   CEBPD   CERNA3   CHCHD7   CHD7   CHMP4C   CHMP7   CHRAC1   CHRNA2   CHRNA6   CHRNB3   CLDN23   CLN8   CLU   CLVS1   CNBD1   CNGB3   CNOT7   COL14A1   COL22A1   COLEC10   COMMD5   COPS5   COX6C   CPA6   CPNE3   CPQ   CPSF1   CRH   CRISPLD1   CSGALNACT1   CSMD1   CSMD3   CSPP1   CTHRC1   CTSB   CYC1   CYHR1   CYP11B1   CYP11B2   CYP7A1   CYP7B1   DCAF13   DCAF4L2   DCSTAMP   DCTN6   DDHD2   DECR1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB130A   DEFB130B   DEFB134   DEFB135   DEFB136   DEFB4A   DEFB4B   DENND3   DEPTOR   DERL1   DGAT1   DKK4   DLC1   DLGAP2   DLGAP2-AS1   DMTN   DNAJC5B   DOCK5   DOK2   DPY19L4   DPYS   DPYSL2   DSCC1   DUSP26   DUSP4   E2F5   EBAG9   EBF2   EEF1D   EFCAB1   EFR3A   EGR3   EIF3E   EIF3H   EIF4EBP1   ELOC   ELP3   EMC2   ENPP2   ENTPD4   ENY2   EPHX2   EPPK1   ERI1   ERICH1   ERICH5   ERLIN2   ESCO2   ESRP1   EXOSC4   EXT1   EXTL3   EXTL3-AS1   EYA1   FABP12   FABP4   FABP5   FABP9   FAM110B   FAM135B   FAM160B2   FAM167A   FAM167A-AS1   FAM49B   FAM66A   FAM66B   FAM66D   FAM66E   FAM83A   FAM83A-AS1   FAM83H   FAM83H-AS1   FAM85A   FAM85B   FAM86B1   FAM86B2   FAM87A   FAM91A1   FAM92A   FBXL6   FBXO16   FBXO25   FBXO32   FBXO43   FDFT1   FER1L6   FER1L6-AS1   FER1L6-AS2   FGF17   FGF20   FGFR1   FGL1   FNTA   FOXH1   FSBP   FUT10   FZD3   FZD6   GASAL1   GATA4   GDAP1   GDF6   GEM   GFRA2   GGH   GINS4   GLI4   GML   GNRH1   GOLGA7   GOT1L1   GPAA1   GPAT4   GPIHBP1   GPR20   GPT   GRHL2   GRINA   GSDMC   GSDMD   GSR   GTF2E2   HAS2   HAS2-AS1   HEY1   HGH1   HGSNAT   HHLA1   HMBOX1   HNF4G   HOOK3   HPYR1   HR   HSF1   HTRA4   IDO1   IDO2   IGLV8OR8-1   IKBKB   IL7   IMPA1   IMPAD1   INTS10   INTS8   INTS9   IQANK1   JPH1   JRK   KAT6A   KBTBD11   KBTBD11-OT1   KCNB2   KCNK9   KCNQ3   KCNS2   KCNU1   KCNV1   KCTD9   KHDRBS3   KIF13B   KIFC2   KLF10   KLHL38   LACTB2   LACTB2-AS1   LAPTM4B   LEPROTL1   LETM2   LGI3   LINC00051   LINC00208   LINC00251   LINC00293   LINC00534   LINC00535   LINC00536   LINC00588   LINC00589   LINC00599   LINC00681   LINC00824   LINC00861   LINC00964   LINC00965   LINC00967   LINC00968   LINC00976   LINC00977   LINC01030   LINC01111   LINC01151   LINC01181   LINC01288   LINC01289   LINC01298   LINC01299   LINC01300   LINC01301   LINC01414   LINC01419   LINC01591   LINC01592   LINC01602   LINC01603   LINC01605   LINC01606   LINC01607   LINC01608   LINC01609   LINC01617   LINC02055   LINC02099   LINC02153   LINC02155   LINC02209   LINC02237   LINC02605   LINC02839   LINC02842   LINC02844   LINC02847   LINC02855   LINC02866   LINC02878   LNCOC1   LONRF1   LOXL2   LPL   LRATD2   LRP12   LRRC14   LRRC24   LRRC6   LRRC69   LRRCC1   LSM1   LY6D   LY6E   LY6E-DT   LY6H   LY6K   LY6L   LY96   LYN   LYNX1   LYNX1-SLURP2   LYPD2   LYPLA1   LZTS1   LZTS1-AS1   MAF1   MAFA   MAFA-AS1   MAK16   MAL2   MAL2-AS1   MAPK15   MATN2   MBOAT4   MCM4   MCMDC2   MCPH1   MCPH1-AS1   MED30   MFHAS1   MFSD3   MICU3   MINCR   MIR10400   MIR1204   MIR1205   MIR1206   MIR1207   MIR1208   MIR12123   MIR1234   MIR124-1   MIR124-2   MIR124-2HG   MIR1302-7   MIR1322   MIR151A   MIR2052   MIR2052HG   MIR2053   MIR30B   MIR30D   MIR3148   MIR3149   MIR3150A   MIR3150B   MIR3150BHG   MIR3151   MIR320A   MIR3610   MIR3622A   MIR3622B   MIR3674   MIR3686   MIR378D2   MIR383   MIR3926-1   MIR3926-2   MIR4286   MIR4287   MIR4288   MIR4469   MIR4470   MIR4471   MIR4472-1   MIR4659A   MIR4659B   MIR4660   MIR4661   MIR4662A   MIR4662B   MIR4663   MIR4664   MIR486-1   MIR486-2   MIR5194   MIR548A3   MIR548AA1   MIR548AO   MIR548AZ   MIR548D1   MIR548H4   MIR548I3   MIR548V   MIR5680   MIR5681A   MIR5681B   MIR5692A2   MIR5708   MIR596   MIR597   MIR598   MIR599   MIR661   MIR6841   MIR6842   MIR6843   MIR6844   MIR6845   MIR6846   MIR6847   MIR6848   MIR6849   MIR6850   MIR6876   MIR6893   MIR7112   MIR7160   MIR7705   MIR7848   MIR8055   MIR8084   MIR875   MIR937   MIR939   MIR9903   MMP16   MOS   MROH1   MROH5   MROH6   MRPL13   MRPL15   MRPS28   MSC   MSC-AS1   MSR1   MSRA   MTBP   MTDH   MTERF3   MTFR1   MTMR7   MTMR9   MTSS1   MTUS1   MYBL1   MYC   MYOM2   NAPRT   NAT1   NAT2   NBN   NCALD   NCOA2   NCRNA00250   NDRG1   NDUFAF6   NDUFB9   NECAB1   NEFL   NEFM   NEIL2   NIPAL2   NKAIN3   NKAIN3-IT1   NKX2-6   NKX3-1   NKX6-3   NPBWR1   NPM2   NRBP2   NRG1   NRG1-IT1   NRG1-IT3   NSD3   NSMAF   NSMCE2   NUDCD1   NUDT18   NUGGC   OC90   ODF1   OPLAH   OPRK1   OSGIN2   OSR2   OTUD6B   OTUD6B-AS1   OXR1   PABPC1   PAG1   PARP10   PBK   PCAT1   PCAT2   PCM1   PCMTD1   PDE7A   PDGFRL   PDLIM2   PDP1   PEBP4   PEG13   PENK   PEX2   PHF20L1   PHYHIP   PI15   PINX1   PIP4P2   PIWIL2   PKHD1L1   PKIA   PKIA-AS1   PLAG1   PLAT   PLEC   PLEKHA2   PLEKHF2   PLPBP   PLPP5   PMP2   PNMA2   PNOC   POLB   POLR2K   POLR3D   POMK   POP1   POTEA   POU5F1B   PPDPFL   PPP1R16A   PPP1R3B   PPP1R42   PPP2CB   PPP2R2A   PPP3CC   PRAG1   PRDM14   PREX2   PRKDC   PRNCR1   PRR23D1   PRR23D2   PRSS51   PRSS55   PSCA   PSD3   PSKH2   PTCSC1   PTDSS1   PTK2   PTK2B   PTP4A3   PUF60   PURG   PVT1   PXDNL   PYCR3   R3HCC1   RAB11FIP1   RAB2A   RAD21   RAD21-AS1   RAD54B   RALYL   RB1CC1   RBIS   RBM12B   RBM12B-AS1   RBPMS   RBPMS-AS1   RDH10   RDH10-AS1   RECQL4   REEP4   RGS20   RGS22   RHOBTB2   RHPN1   RHPN1-AS1   RIDA   RIMS2   RIPK2   RMDN1   RNF122   RNF139   RNF139-AS1   RNF170   RNF19A   RNU105C   RP1   RP1L1   RPL30   RPL7   RPL8   RPS20   RRM2B   RRS1   RRS1-AS1   RSPO2   RUNX1T1   SAMD12   SAMD12-AS1   SARAF   SBSPON   SCARA3   SCARA5   SCRIB   SCRT1   SCX   SDC2   SDCBP   SDR16C5   SFRP1   SFTPC   SGCZ   SGK3   SH2D4A   SHARPIN   SIRLNT   SLA   SLC10A5   SLC18A1   SLC20A2   SLC25A32   SLC25A37   SLC26A7   SLC30A8   SLC35G5   SLC39A14   SLC39A4   SLC45A4   SLC52A2   SLC7A13   SLC7A2   SLCO5A1   SLURP1   SLURP2   SMILR   SMIM18   SMIM19   SNAI2   SNHG6   SNORA1B   SNORA72   SNORA99   SNORD13   SNORD149   SNORD168   SNORD173   SNORD38D   SNORD3F   SNORD3H   SNORD3I   SNORD54   SNORD65B   SNORD77B   SNORD87   SNTB1   SNTG1   SNX16   SNX31   SORBS3   SOX17   SOX7   SPAG1   SPAG11A   SPAG11B   SPATC1   SPIDR   SQLE   ST18   ST3GAL1   STAR   STAU2   STAU2-AS1   STC1   STK3   STMN2   STMN4   SULF1   SYBU   TACC1   TAF2   TATDN1   TBC1D31   TCEA1   TCF24   TCIM   TDRP   TERF1   TEX15   TG   TGS1   THAP1   THEM6   TIGD5   TM2D2   TMEM249   TMEM64   TMEM65   TMEM67   TMEM68   TMEM70   TMEM71   TMEM74   TMEM75   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TNFRSF11B   TNKS   TONSL   TONSL-AS1   TOP1MT   TOX   TP53INP1   TPD52   TRA-AGC8-2   TRAM1   TRAPPC9   TRHR   TRIB1   TRIM35   TRIM55   TRIQK   TRM-CAT1-1   TRMT12   TRMT9B   TRPA1   TRPS1   TRS-AGA2-5   TRY-GTA5-1   TRY-GTA5-2   TSNARE1   TSPYL5   TSTA3   TTI2   TTPA   TUSC3   UBE2V2   UBE2W   UBR5   UBR5-AS1   UBXN2B   UBXN8   UNC5D   UQCRB   USP17L1   USP17L2   USP17L3   USP17L4   USP17L7   USP17L8   UTP23   VCPIP1   VDAC3   VIRMA   VPS13B   VPS13B-DT   VPS28   VPS37A   VXN   WASHC5   WDR97   WDYHV1   WRN   WWP1   XKR4   XKR5   XKR6   XKR9   XPO7   YTHDF3   YTHDF3-AS1   YWHAZ   ZBTB10   ZC2HC1A   ZC3H3   ZDHHC2   ZFAND1   ZFAT   ZFAT-AS1   ZFHX4   ZFHX4-AS1   ZFP41   ZFPM2   ZFPM2-AS1   ZHX1   ZHX1-C8orf76   ZHX2   ZMAT4   ZNF16   ZNF250   ZNF251   ZNF252P-AS1   ZNF34   ZNF395   ZNF517   ZNF572   ZNF596   ZNF623   ZNF696   ZNF7   ZNF703   ZNF704   ZNF705B   ZNF705D   ZNF705G   ZNF706   ZNF707  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_226452)_(145068712_?)dup
NC_000008.10:g.(?_176452)_(146294098_?)dup
NC_000008.9:g.(?_166452)_(146264902_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388226,452 - 145,068,712CLINVAR
GRCh378176,452 - 146,294,098CLINVAR
Build 368166,452 - 146,264,902CLINVAR
Cytogenetic Map88p23.3-q24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490456
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.