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Variant : CV381780 (GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4) Homo sapiens

Symbol: CV381780
Name: GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4
Condition: See cases [RCV000447123]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AAGAB   ABHD17C   ABHD2   ACAN   ACSBG1   ADAL   ADAM10   ADAMTS17   ADAMTS7   ADAMTSL3   ADPGK   AEN   AGBL1   AKAP13   ALDH1A2   ALDH1A3   ALPK3   ANKDD1A   ANKRD34C   ANP32A   ANPEP   ANXA2   AP3B2   AP3S2   AP4E1   APH1B   AQP9   ARID3B   ARIH1   ARNT2   ARPIN   ARPIN-AP3S2   ARPP19   ARRDC4   ASB7   ATP8B4   B2M   BBS4   BCL2A1   BCL2L10   BLM   BLOC1S6   BNC1   BNIP2   BTBD1   C15orf32   C15orf39   C15orf40   C15orf48   C15orf61   C15orf65   C2CD4A   C2CD4B   CA12   CALML4   CAPN3   CASC4   CATSPER2   CCDC33   CCNB2   CCNDBP1   CCPG1   CD276   CDAN1   CELF6   CEMIP   CEP152   CERS3   CFAP161   CGNL1   CHD2   CHRNA3   CHRNA5   CHRNB4   CHSY1   CIAO2A   CIB1   CIB2   CILP   CKMT1A   CKMT1B   CLK3   CLN6   CLPX   COMMD4   COPS2   CORO2B   COX5A   CPEB1   CPLX3   CRABP1   CRTC3   CSK   CSNK1G1   CSPG4   CT62   CTDSPL2   CTSH   CTXN2   CYP11A1   CYP19A1   CYP1A1   CYP1A2   DAPK2   DENND4A   DET1   DIS3L   DMXL2   DNAAF4   DNAJA4   DPP8   DTWD1   DUOX1   DUOX2   DUOXA1   DUOXA2   DUT   EDC3   EFL1   EHD4   EID1   EIF3J   ELL3   EPB42   ETFA   FAH   FAM169B   FAM174B   FAM214A   FAM219B   FAM227B   FAM81A   FANCI   FBN1   FBXL22   FBXO22   FEM1B   FES   FGF7   FOXB1   FRMD5   FSD2   FURIN   GABPB1   GALK2   GANC   GATM   GCNT3   GDPGP1   GLCE   GLDN   GNB5   GOLGA6A   GOLGA6B   GOLGA6C   GOLGA6D   GOLGA6L3   GRAMD2A   GTF2A2   HACD3   HAPLN3   HAUS2   HCN4   HDC   HDDC3   HERC1   HEXA   HMG20A   HOMER2   HYKK   HYPK   ICE2   IDH2   IDH3A   IGDCC3   IGDCC4   IGF1R   IL16   IMP3   INSYN1   INTS14   IQCH   IQGAP1   IREB2   ISG20   ISL2   ISLR   ISLR2   ITGA11   ITPKA   JMJD7   KBTBD13   KIF23   KIF7   KLHL25   LACTB   LARP6   LCMT2   LCTL   LDHAL6B   LEO1   LINC00928   LINGO1   LINS1   LIPC   LMAN1L   LOXL1   LRRC28   LRRC49   LRRC57   LRRK1   LTK   LYSMD2   LYSMD4   MAN2A2   MAN2C1   MAP1A   MAP2K1   MAP2K5   MAPK6   MAPKBP1   MCTP2   MEF2A   MEGF11   MESD   MESP1   MESP2   MEX3B   MFAP1   MFGE8   MGA   MINAR1   MINDY2   MIR184   MIR9-3   MNS1   MORF4L1   MPI   MRPL46   MRPS11   MTFMT   MTHFS   MYEF2   MYO1E   MYO5A   MYO5C   MYO9A   MYZAP   NEDD4   NEIL1   NEO1   NGRN   NMB   NOX5   NPTN   NR2E3   NR2F2   NRG4   NTRK3   OAZ2   ODF3L1   ONECUT1   OR4F6   PAQR5   PARP16   PARP6   PATL2   PCLAF   PCSK6   PDCD7   PDE8A   PDIA3   PEAK1   PEX11A   PGPEP1L   PIAS1   PIF1   PIGB   PKM   PLA2G4B   PLA2G4D   PLA2G4E   PLA2G4F   PLEKHO2   PLIN1   PML   POLG   POLR2M   PPCDC   PPIB   PPIP5K1   PRC1   PRTG   PSMA4   PSTPIP1   PTPN9   PYGO1   RAB11A   RAB27A   RAB8B   RAMAC   RASGRF1   RASL12   RBPMS2   RCCD1   RCN2   REC114   RFX7   RGMA   RHCG   RLBP1   RNF111   RNU5A-1   RNU6-1   RORA   RPAP1   RPL4   RPLP1   RPP25   RPS17   RPS27L   RSL24D1   RTF1   SAXO2   SCAMP2   SCAMP5   SCAPER   SCARNA15   SCG3   SEC11A   SECISBP2L   SELENOS   SEMA4B   SEMA6D   SEMA7A   SENP8   SERF2   SERINC4   SH2D7   SH3GL3   SHC4   SHF   SIN3A   SKOR1   SLC12A1   SLC24A1   SLC24A5   SLC27A2   SLC28A1   SLC28A2   SLC30A4   SLC51B   SLCO3A1   SLTM   SMAD3   SMAD6   SNAP23   SNAPC5   SNRPA1   SNUPN   SNX1   SNX22   SNX33   SORD   SPATA5L1   SPATA8   SPESP1   SPG11   SPG21   SPPL2A   SPTBN5   SQOR   ST20   ST20-MTHFS   ST8SIA2   STARD5   STARD9   STOML1   STRA6   STRC   SV2B   SYNM   TARSL2   TBC1D21   TBC1D2B   TCF12   TERB2   TEX9   TGM5   TGM7   THAP10   THSD4   TICRR   TIPIN   TLE3   TLN2   TLNRD1   TM2D3   TM6SF1   TMC3   TMED3   TMEM202   TMEM266   TMEM62   TMEM87A   TMOD2   TMOD3   TNFAIP8L3   TP53BP1   TPM1   TRIM69   TRIP4   TRPM7   TSPAN3   TTBK2   TTC23   TUBGCP4   TYRO3   UACA   UBAP1L   UBE2Q2   UBL7   UBR1   ULK3   UNC13C   UNC45A   USP3   USP50   USP8   VPS13C   VPS33B   VPS39   WDR61   WDR72   WDR73   WDR76   WDR93   WHAMM   ZFAND6   ZNF106   ZNF280D   ZNF592   ZNF609   ZNF710   ZNF774   ZSCAN2   ZSCAN29   ZWILCH  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.(?_41745084)_(102354798_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371541,745,084 - 102,354,798CLINVAR
Cytogenetic Map1515q15.1-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12851841
Created: 2017-04-11
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.