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Variant : CV74494 (GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3) Homo sapiens

Symbol: CV74494
Name: GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053770]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053770]|See cases [RCV000053770]
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   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ARHGEF7-AS1   ARHGEF7-AS2   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   BIVM   BIVM-ERCC5   C13orf46   CARS2   CCDC168   CDC16   CFAP97D2   CHAMP1   CLDN10   CLDN10-AS1   CLN5   CLYBL   CLYBL-AS1   CLYBL-AS2   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   COMMD6   CUL4A   DAOA   DAOA-AS1   DCT   DCUN1D2   DNAJC3   DNAJC3-DT   DOCK9   DOCK9-AS1   DOCK9-DT   DZIP1   EDNRB   EDNRB-AS1   EFNB2   ERCC5   F10   F10-AS1   F7   FAM155A   FAM155A-IT1   FARP1   FBXL3   FGF14   FGF14-AS1   FGF14-AS2   FGF14-IT1   GAS6   GAS6-AS1   GAS6-DT   GGACT   GPC5   GPC5-AS1   GPC5-AS2   GPC6   GPC6-AS1   GPC6-AS2   GPR18   GPR180   GPR183   GRK1   GRTP1   GRTP1-AS1   HS6ST3   ING1   IPO5   IRS2   ITGBL1   KCTD12   LAMP1   LIG4   LINC00331   LINC00333   LINC00343   LINC00347   LINC00351   LINC00353   LINC00354   LINC00359   LINC00363   LINC00368   LINC00370   LINC00373   LINC00375   LINC00377   LINC00379   LINC00380   LINC00381   LINC00382   LINC00396   LINC00397   LINC00399   LINC00410   LINC00411   LINC00430   LINC00431   LINC00433   LINC00440   LINC00443   LINC00446   LINC00449   LINC00452   LINC00454   LINC00456   LINC00460   LINC00551   LINC00552   LINC00554   LINC00557   LINC00559   LINC00560   LINC00561   LINC00564   LINC00565   LINC00567   LINC00676   LINC01038   LINC01039   LINC01040   LINC01043   LINC01044   LINC01047   LINC01049   LINC01068   LINC01069   LINC01070   LINC01078   LINC01080   LINC01232   LINC01309   LINC02336   LINC02337   LMO7   LMO7-AS1   LMO7DN   LMO7DN-IT1   LOC101928841   MBNL2   MCF2L   MCF2L-AS1   METTL21C   MIR1267   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR2681   MIR3170   MIR3665   MIR4306   MIR4500   MIR4500HG   MIR4501   MIR4502   MIR4705   MIR548AR   MIR548AS   MIR622   MIR623   MIR8073   MIR8075   MIR92A1   MYCBP2   MYCBP2-AS1   MYO16   MYO16-AS1   NALCN   NALCN-AS1   NAXD   NDFIP2   NDFIP2-AS1   OBI1   OBI1-AS1   OXGR1   PCCA   PCCA-AS1   PCCA-DT   PCID2   POGLUT2   POU4F1   PRECSIT   PROZ   RAB20   RAP2A   RASA3   RBM26   RBM26-AS1   RNF113B   SCEL   SCEL-AS1   SLAIN1   SLC10A2   SLC15A1   SLITRK1   SLITRK5   SLITRK6   SNORA107   SNORD13G   SNORD31B   SOX1   SOX1-OT   SOX21   SOX21-AS1   SPACA7   SPRY2   STK24   STK24-AS1   TBC1D4   TEX29   TEX30   TFDP1   TGDS   TM9SF2   TMCO3   TMEM255B   TMTC4   TNFSF13B   TPP2   TRF-GAA1-5   TUBGCP3   UBAC2   UBAC2-AS1   UCHL3   UGGT2   UPF3A   ZIC2   ZIC5  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_74345951)_(114327314_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381374,345,951 - 114,327,314CLINVAR
GRCh371374,920,088 - 115,085,141CLINVAR
Build 361373,818,089 - 114,110,891CLINVAR
Cytogenetic Map1313q22.1-34CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8620685
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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