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Variant : CV247964 (GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3) Homo sapiens

Symbol: CV247964
Name: GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3
Condition: See cases [RCV000240602]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: AAGAB   ABHD17C   ABHD2   ACAN   ACSBG1   ADAMTS17   ADAMTS7   ADAMTSL3   ADPGK   AEN   AGBL1   AKAP13   ALDH1A3   ALPK3   ANKDD1A   ANKRD34C   ANP32A   ANPEP   AP3B2   AP3S2   ARID3B   ARIH1   ARNT2   ARPIN   ARPIN-AP3S2   ARRDC4   ASB7   BBS4   BCL2A1   BLM   BNC1   BTBD1   C15orf32   C15orf39   C15orf40   C15orf61   CALML4   CCDC33   CD276   CELF6   CEMIP   CERS3   CFAP161   CHD2   CHRNA3   CHRNA5   CHRNB4   CHSY1   CIB1   CIB2   CILP   CLK3   CLN6   CLPX   COMMD4   CORO2B   COX5A   CPEB1   CPLX3   CRABP1   CRTC3   CSK   CSNK1G1   CSPG4   CT62   CTSH   CYP11A1   CYP1A1   CYP1A2   DENND4A   DET1   DIS3L   DNAJA4   DPP8   EDC3   EFL1   ETFA   FAH   FAM169B   FAM174B   FAM219B   FANCI   FBXO22   FEM1B   FES   FSD2   FURIN   GDPGP1   GLCE   GOLGA6A   GOLGA6B   GOLGA6C   GOLGA6D   GOLGA6L3   GRAMD2A   HACD3   HAPLN3   HCN4   HDDC3   HEXA   HMG20A   HOMER2   HYKK   IDH2   IDH3A   IGDCC3   IGDCC4   IGF1R   IL16   IMP3   INSYN1   INTS14   IQCH   IQGAP1   IREB2   ISG20   ISL2   ISLR   ISLR2   ITGA11   KBTBD13   KIF23   KIF7   KLHL25   LARP6   LCTL   LINC00928   LINGO1   LINS1   LMAN1L   LOXL1   LRRC28   LRRC49   LRRK1   LYSMD4   MAN2A2   MAN2C1   MAP2K1   MAP2K5   MCTP2   MEF2A   MEGF11   MESD   MESP1   MESP2   MEX3B   MFGE8   MINAR1   MIR184   MIR9-3   MORF4L1   MPI   MRPL46   MRPS11   MTFMT   MTHFS   MYO9A   NEIL1   NEO1   NGRN   NMB   NOX5   NPTN   NR2E3   NR2F2   NRG4   NTRK3   OAZ2   ODF3L1   OR4F15   OR4F4   OR4F6   PAQR5   PARP16   PARP6   PCLAF   PCSK6   PDCD7   PDE8A   PEAK1   PEX11A   PGPEP1L   PIAS1   PIF1   PKM   PLEKHO2   PLIN1   PML   POLG   PPCDC   PRC1   PSMA4   PSTPIP1   PTPN9   RAB11A   RAMAC   RASGRF1   RASL12   RBPMS2   RCCD1   RCN2   REC114   RGMA   RHCG   RLBP1   RNU5A-1   RNU6-1   RPL4   RPLP1   RPP25   RPS17   SAXO2   SCAMP2   SCAMP5   SCAPER   SCARNA15   SEC11A   SELENOS   SEMA4B   SEMA7A   SENP8   SH2D7   SH3GL3   SIN3A   SKOR1   SLC24A1   SLC28A1   SLC51B   SLCO3A1   SMAD3   SMAD6   SNAPC5   SNRPA1   SNUPN   SNX33   SPATA8   SPESP1   SPG21   ST20   ST20-MTHFS   ST8SIA2   STARD5   STOML1   STRA6   SV2B   SYNM   TARSL2   TBC1D21   TBC1D2B   THAP10   THSD4   TICRR   TIPIN   TLE3   TLNRD1   TM2D3   TM6SF1   TMC3   TMED3   TMEM202   TMEM266   TRIP4   TSPAN3   TTC23   UACA   UBAP1L   UBE2Q2   UBL7   ULK3   UNC45A   VPS33B   WDR61   WDR73   WDR93   WHAMM   ZFAND6   ZNF592   ZNF609   ZNF710   ZNF774   ZSCAN2   ZWILCH  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.(?_64637227)_(102509910_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371564,637,227 - 102,509,910CLINVAR
Cytogenetic Map1515q22.31-26.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541972
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-06-12
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.