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Variant : CV675085 (GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3) Homo sapiens

Symbol: CV675085
Name: GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3
Condition: not provided [RCV000848192]
Clinical Significance: pathogenic
Last Evaluated: 07/25/2018
Review Status: no assertion criteria provided
Related Genes: AARD   ABRA   ADAM18   ADAM2   ADAM32   ADAM9   ADCK5   ADCY8   ADGRA2   ADGRB1   ADHFE1   ADRB3   AGO2   ALKAL1   ANGPT1   ANK1   ANKRD46   ANXA13   AP3M2   ARC   ARFGEF1   ARHGAP39   ARMC1   ASAP1   ASAP1-IT1   ASH2L   ASPH   ATAD2   ATP6V0D2   ATP6V1C1   ATP6V1H   AZIN1   BAALC   BAG4   BHLHE22   BOP1   BPNT2   BRF2   C8orf17   C8orf31   C8orf33   C8orf34   C8orf37   C8orf44   C8orf44-SGK3   C8orf76   C8orf82   C8orf86   C8orf87   CA1   CA13   CA2   CA3   CA8   CALB1   CCDC166   CCN3   CCN4   CCNE2   CDH17   CEBPD   CHCHD7   CHD7   CHMP4C   CHRAC1   CHRNA6   CHRNB3   CIBAR1   CLVS1   CNBD1   CNGB3   COL14A1   COL22A1   COLEC10   COMMD5   COPS5   COX6C   CPA6   CPNE3   CPQ   CPSF1   CRH   CRISPLD1   CSMD3   CSPP1   CTHRC1   CYC1   CYHR1   CYP11B1   CYP11B2   CYP7A1   CYP7B1   CYRIB   DCAF13   DCAF4L2   DCSTAMP   DDHD2   DECR1   DENND3   DEPTOR   DERL1   DGAT1   DKK4   DNAJC5B   DPY19L4   DPYS   DSCC1   DUSP26   E2F5   EBAG9   EEF1D   EFCAB1   EFR3A   EIF3E   EIF3H   EIF4EBP1   ELOC   EMC2   ENPP2   ENY2   EPPK1   ERICH5   ERLIN2   ESRP1   EXOSC4   EXT1   EYA1   FABP12   FABP4   FABP5   FABP9   FAM110B   FAM135B   FAM83A   FAM83H   FAM91A1   FBXL6   FBXO32   FBXO43   FER1L6   FGFR1   FNTA   FOXH1   FSBP   FUT10   FZD6   GDAP1   GDF6   GEM   GGH   GINS4   GLI4   GML   GOLGA7   GOT1L1   GPAA1   GPAT4   GPIHBP1   GPR20   GPT   GRHL2   GRINA   GSDMC   GSDMD   HAS2   HAS2-AS1   HEY1   HGH1   HGSNAT   HHLA1   HNF4G   HOOK3   HSF1   HTRA4   IDO1   IDO2   IKBKB   IL7   IMPA1   INTS8   JPH1   JRK   KAT6A   KCNB2   KCNK9   KCNQ3   KCNS2   KCNU1   KCNV1   KHDRBS3   KIFC2   KLF10   KLHL38   LACTB2   LAPTM4B   LETM2   LINC00293   LINC00536   LINC01602   LRATD2   LRP12   LRRC14   LRRC24   LRRC6   LRRC69   LRRCC1   LSM1   LY6D   LY6E   LY6H   LY6K   LY96   LYN   LYNX1   LYPD2   LYPLA1   MAF1   MAFA   MAK16   MAL2   MAPK15   MATN2   MCM4   MCMDC2   MED30   MFSD3   MIR1234   MIR661   MMP16   MOS   MROH1   MROH5   MROH6   MRPL13   MRPL15   MRPS28   MSC   MTBP   MTDH   MTERF3   MTFR1   MTSS1   MYBL1   MYC   NAPRT   NBN   NCALD   NCOA2   NDRG1   NDUFAF6   NDUFB9   NECAB1   NIPAL2   NKAIN3   NKX6-3   NPBWR1   NRBP2   NRG1   NSD3   NSMAF   NSMCE2   NUDCD1   OC90   ODF1   OPLAH   OPRK1   OSGIN2   OSR2   OTUD6B   OXR1   PABPC1   PAG1   PARP10   PCAT1   PCMTD1   PDE7A   PDP1   PENK   PEX2   PHF20L1   PI15   PIP4P2   PKHD1L1   PKIA   PLAG1   PLAT   PLEC   PLEKHA2   PLEKHF2   PLPBP   PLPP5   PMP2   POLB   POLR2K   POMK   POP1   POTEA   POU5F1B   PPDPFL   PPP1R16A   PPP1R42   PRDM14   PREX2   PRKDC   PSCA   PSKH2   PTDSS1   PTK2   PTP4A3   PUF60   PVT1   PXDNL   PYCR3   RAB11FIP1   RAB2A   RAD21   RAD54B   RALYL   RB1CC1   RBIS   RBM12B   RDH10   RDH10-AS1   RECQL4   RGS20   RGS22   RHPN1   RIDA   RIMS2   RIPK2   RMDN1   RNF122   RNF139   RNF170   RNF19A   RP1   RPL30   RPL7   RPL8   RPS20   RRM2B   RRS1   RSPO2   RUNX1T1   SAMD12   SBSPON   SCRIB   SCRT1   SCX   SDC2   SDCBP   SDR16C5   SFRP1   SGK3   SHARPIN   SLA   SLC10A5   SLC20A2   SLC25A32   SLC26A7   SLC30A8   SLC39A4   SLC45A4   SLC52A2   SLC7A13   SLCO5A1   SLURP1   SMIM19   SNAI2   SNHG6   SNORD87   SNTB1   SNTG1   SNX16   SNX31   SOX17   SPAG1   SPATC1   SPIDR   SQLE   ST18   ST3GAL1   STAR   STAU2   STK3   STMN2   SULF1   SYBU   TACC1   TAF2   TATDN1   TBC1D31   TCEA1   TCF24   TCIM   TERF1   TG   TGS1   THAP1   THEM6   TIGD5   TM2D2   TMEM249   TMEM64   TMEM65   TMEM67   TMEM68   TMEM70   TMEM71   TMEM74   TNFRSF11B   TONSL   TOP1MT   TOX   TP53INP1   TPD52   TRAM1   TRAPPC9   TRHR   TRIB1   TRIM55   TRIQK   TRMT12   TRPA1   TRPS1   TSNARE1   TSPYL5   TSTA3   TTI2   TTPA   UBE2V2   UBE2W   UBR5   UBR5-AS1   UBXN2B   UNC5D   UQCRB   UTP23   VCPIP1   VDAC3   VIRMA   VPS13B   VPS28   VXN   WASHC5   WDYHV1   WWP1   XKR4   XKR9   YTHDF3   YWHAZ   ZBTB10   ZC2HC1A   ZC3H3   ZFAND1   ZFAT   ZFHX4   ZFP41   ZFPM2   ZHX1   ZHX1-C8orf76   ZHX2   ZMAT4   ZNF16   ZNF250   ZNF251   ZNF34   ZNF517   ZNF572   ZNF623   ZNF696   ZNF7   ZNF703   ZNF704   ZNF706   ZNF707  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37831,936,551 - 146,295,771CLINVAR
Cytogenetic Map88p12-q24.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14975325
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-01-14
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.