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Variant : CV74367 (GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3) Homo sapiens

Symbol: CV74367
Name: GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053638]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053638]|See cases [RCV000053638]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AASDHPPT   ABCG4   ACAD8   ACAT1   ACRV1   ADAMTS15   ADAMTS8   ALG9   ALKBH8   ANGPTL5   ANKK1   APLP2   APOA1   APOA1-AS   APOA4   APOA5   APOC3   ARCN1   ARHGAP20   ARHGAP32   ARHGAP42   ARHGEF12   ATM   ATP5MG   B3GAT1   BACE1   BACE1-AS   BARX2   BCL9L   BCO2   BIRC2   BIRC3   BLID   BSX   BTG4   BUD13   C11orf1   C11orf44   C11orf45   C11orf52   C11orf53   C11orf65   C11orf71   C11orf87   C11orf88   C1QTNF5   C2CD2L   CADM1   CARD16   CARD17   CARD18   CASP1   CASP12   CASP4   CASP5   CBL   CCDC15   CCDC153   CCDC84   CD3D   CD3E   CD3G   CDON   CEP126   CEP164   CFAP300   CHEK1   CLDN25   CLMP   CNTN5   COLCA1   COLCA2   CRTAM   CRYAB   CUL5   CWF19L2   CXCR5   DCPS   DCUN1D5   DDI1   DDX10   DDX25   DDX6   DIXDC1   DLAT   DPAGT1   DRD2   DSCAML1   DYNC2H1   EI24   ELMOD1   ESAM   ETS1   ETS1-AS1   EXPH5   FAM118B   FDX1   FDXACB1   FEZ1   FLI1   FOXR1   FOXRED1   FXYD2   FXYD6   FXYD6-FXYD2   GLB1L2   GLB1L3   GRAMD1B   GRIA4   GRIK4   GSEC   GUCY1A2   H2AX   HEPACAM   HEPN1   HINFP   HMBS   HSPA8   HSPB2   HSPB2-C11orf52   HTR3A   HTR3B   HYLS1   HYOU1   IFT46   IGSF9B   IL10RA   IL18   JAM3   JAML   JHY   KBTBD3   KCNJ1   KCNJ5   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   KMT2A   LAYN   LINC00167   LINC00900   LINC01395   LINC02098   LINC02550   LINC02551   LINC02552   LINC02697   LINC02702   LINC02703   LINC02706   LINC02712   LINC02714   LINC02715   LINC02719   LINC02725   LINC02727   LINC02731   LINC02732   LINC02743   LINC02744   LINC02762   LINC02763   LINC02764   LOC403312   MCAM   MFRP   MIR100   MIR100HG   MIR10526   MIR125B1   MIR3167   MIR34B   MIR34C   MIR3920   MIR4301   MIR4491   MIR4492   MIR4493   MIR4693   MIR4697   MIR4697HG   MIR6090   MIR6716   MIR6756   MIR8052   MIRLET7A2   MMP1   MMP10   MMP12   MMP13   MMP20   MMP27   MMP3   MMP7   MMP8   MPZL2   MPZL3   MSANTD2   MSANTD4   NCAM1   NCAM1-AS1   NCAPD3   NECTIN1   NECTIN1-AS1   NFRKB   NKAPD1   NLRX1   NNMT   NPAT   NRGN   NTM   NTM-AS1   NTM-IT   NXPE1   NXPE2   NXPE4   OAF   OPCML   OR10D3   OR10G4   OR10G6   OR10G7   OR10G8   OR10G9   OR10S1   OR4D5   OR6M1   OR6T1   OR6X1   OR8A1   OR8B12   OR8B2   OR8B3   OR8B4   OR8B8   OR8D1   OR8D2   OR8D4   OR8G1   OR8G2P   OR8G5   PAFAH1B2   PANX3   PATE1   PATE2   PATE3   PATE4   PCSK7   PDGFD   PDZD3   PGR   PGR-AS1   PHLDB1   PIH1D2   PKNOX2   PKNOX2-AS1   PLET1   POGLUT3   POU2AF1   POU2F3   PPP2R1B   PRDM10   PTS   PUS3   RAB39A   RBM7   RDX   REXO2   RNF214   RNF26   ROBO3   ROBO4   RPS25   RPUSD4   SC5D   SCN2B   SCN3B   SCN4B   SDHD   SENCR   SIAE   SIDT2   SIK2   SIK3   SLC35F2   SLC37A2   SLC37A4   SLN   SMIM35   SNORD13I   SNORD14C   SNORD14D   SNORD14E   SNORD150   SNORD153   SNX19   SORL1   SPA17   SPATA19   SRPRA   ST14   ST3GAL4   STT3A   STT3A-AS1   TAGLN   TBCEL   TBRG1   TECTA   TEX12   THY1   THYN1   TIMM8B   TIRAP   TLCD5   TMEM123   TMEM218   TMEM225   TMEM25   TMEM45B   TMPRSS13   TMPRSS4   TMPRSS5   TP53AIP1   TRAPPC4   TREH   TRIM29   TRK-TTT2-1   TRPC6   TTC12   TTC36   UBASH3B   UBE4A   UPK2   USP2   USP2-AS1   USP28   VPS11   VPS26B   VSIG10L2   VSIG2   VWA5A   YAP1   ZBTB16   ZBTB44   ZBTB44-DT   ZC3H12C   ZNF202   ZPR1   ZW10  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_100348599)_(135040246_?)dup
NC_000011.9:g.(?_100219331)_(134910140_?)dup
NC_000011.8:g.(?_99724541)_(134415350_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811100,348,599 - 135,040,246CLINVAR
GRCh3711100,219,331 - 134,910,140CLINVAR
Build 361199,724,541 - 134,415,350CLINVAR
Cytogenetic Map1111q22.1-25CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620557
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-01
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.