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Variant : CV74488 (GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3) Homo sapiens

Symbol: CV74488
Name: GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053764]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053764]|See cases [RCV000053764]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC4   ABHD13   ACOD1   ADPRHL1   ALG11   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ARHGEF7-AS1   ARHGEF7-AS2   ARL11   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   ATP7B   ATXN8OS   BIVM   BIVM-ERCC5   BORA   C13orf42   C13orf46   CAB39L   CARS2   CBY2   CCDC168   CCDC70   CDADC1   CDC16   CFAP97D2   CHAMP1   CKAP2   CLDN10   CLDN10-AS1   CLN5   CLYBL   CLYBL-AS1   CLYBL-AS2   CNMD   COG3   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   COMMD6   CPB2   CPB2-AS1   CUL4A   CYSLTR2   DACH1   DAOA   DAOA-AS1   DCT   DCUN1D2   DHRS12   DIAPH3   DIAPH3-AS1   DIAPH3-AS2   DIS3   DLEU1   DLEU1-AS1   DLEU2   DLEU7   DLEU7-AS1   DNAJC3   DNAJC3-DT   DOCK9   DOCK9-AS1   DOCK9-DT   DZIP1   EBPL   EDNRB   EDNRB-AS1   EFNB2   ERCC5   ERICH6B   ESD   F10   F10-AS1   F7   FAM124A   FAM155A   FAM155A-IT1   FARP1   FBXL3   FGF14   FGF14-AS1   FGF14-AS2   FGF14-IT1   FNDC3A   GAS6   GAS6-AS1   GAS6-DT   GGACT   GPALPP1   GPC5   GPC5-AS1   GPC5-AS2   GPC6   GPC6-AS1   GPC6-AS2   GPR18   GPR180   GPR183   GRK1   GRTP1   GRTP1-AS1   GTF2F2   HNRNPA1L2   HS6ST3   HTR2A   HTR2A-AS1   ING1   INTS6   INTS6-AS1   IPO5   IRS2   ITGBL1   ITM2B   KCNRG   KCTD12   KCTD4   KLF12   KLF5   KLHL1   KPNA3   LAMP1   LCP1   LIG4   LINC00330   LINC00331   LINC00333   LINC00343   LINC00345   LINC00346   LINC00347   LINC00348   LINC00351   LINC00353   LINC00354   LINC00355   LINC00358   LINC00359   LINC00363   LINC00364   LINC00368   LINC00370   LINC00373   LINC00374   LINC00375   LINC00376   LINC00377   LINC00378   LINC00379   LINC00380   LINC00381   LINC00382   LINC00383   LINC00392   LINC00393   LINC00395   LINC00396   LINC00397   LINC00399   LINC00402   LINC00407   LINC00410   LINC00411   LINC00430   LINC00431   LINC00433   LINC00434   LINC00440   LINC00443   LINC00444   LINC00446   LINC00448   LINC00449   LINC00452   LINC00454   LINC00456   LINC00458   LINC00459   LINC00460   LINC00462   LINC00550   LINC00551   LINC00552   LINC00554   LINC00557   LINC00558   LINC00559   LINC00560   LINC00561   LINC00562   LINC00563   LINC00564   LINC00565   LINC00567   LINC00676   LINC01038   LINC01039   LINC01040   LINC01043   LINC01044   LINC01047   LINC01049   LINC01052   LINC01055   LINC01065   LINC01068   LINC01069   LINC01070   LINC01074   LINC01075   LINC01078   LINC01080   LINC01198   LINC01232   LINC01309   LINC01442   LINC02333   LINC02336   LINC02337   LINC02338   LINC02339   LMO7   LMO7-AS1   LMO7DN   LMO7DN-IT1   LOC101928841   LPAR6   LRCH1   LRRC63   MBNL2   MCF2L   MCF2L-AS1   MED4   MED4-AS1   METTL21C   MIR1267   MIR1297   MIR15A   MIR16-1   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR2681   MIR3169   MIR3170   MIR3613   MIR3665   MIR4306   MIR4500   MIR4500HG   MIR4501   MIR4502   MIR4703   MIR4704   MIR4705   MIR5007   MIR548AR   MIR548AS   MIR548X2   MIR5693   MIR622   MIR623   MIR759   MIR8073   MIR8075   MIR8079   MIR92A1   MLNR   MYCBP2   MYCBP2-AS1   MYO16   MYO16-AS1   MZT1   NALCN   NALCN-AS1   NAXD   NDFIP2   NDFIP2-AS1   NEK3   NEK5   NUDT15   NUFIP1   OBI1   OBI1-AS1   OLFM4   OXGR1   PCCA   PCCA-AS1   PCCA-DT   PCDH17   PCDH20   PCDH8   PCDH9   PCDH9-AS2   PCDH9-AS3   PCDH9-AS4   PCID2   PHF11   PIBF1   POGLUT2   POU4F1   PROZ   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   RAB20   RAP2A   RASA3   RB1   RB1-DT   RBM26   RBM26-AS1   RCBTB1   RCBTB2   RNASEH2B   RNASEH2B-AS1   RNF113B   RUBCNL   SCEL   SCEL-AS1   SERP2   SERPINE3   SETDB2   SIAH3   SLAIN1   SLC10A2   SLC15A1   SLC25A30   SLC25A30-AS1   SLITRK1   SLITRK5   SLITRK6   SNORA107   SNORA31   SNORA31B   SNORD13G   SNORD31B   SOX1   SOX1-OT   SOX21   SOX21-AS1   SPACA7   SPRY2   SPRYD7   STK24   STK24-AS1   SUCLA2   SUCLA2-AS1   SUGT1   TBC1D4   TDRD3   TEX29   TEX30   TFDP1   TGDS   THSD1   TM9SF2   TMCO3   TMEM255B   TMEM272   TMTC4   TNFSF13B   TPP2   TPT1   TPT1-AS1   TRE-TTC2-1   TRF-GAA1-5   TRIM13   TSC22D1   TSC22D1-AS1   TUBGCP3   TUSC8   UBAC2   UBAC2-AS1   UCHL3   UGGT2   UPF3A   UTP14C   VPS36   WDFY2   ZC3H13   ZIC2   ZIC5  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_44164751)_(114327173_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381344,164,751 - 114,327,173CLINVAR
GRCh371344,738,887 - 115,085,141CLINVAR
Build 361343,636,887 - 114,110,750CLINVAR
Cytogenetic Map1313q14.11-34CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8620679
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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