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Variant : CV74496 (GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3) Homo sapiens

Symbol: CV74496
Name: GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772]
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   ADPRHL1   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ARHGEF7-AS1   ARHGEF7-AS2   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   BIVM   BIVM-ERCC5   CARS2   CCDC168   CDC16   CHAMP1   CLDN10   CLDN10-AS1   CLYBL   CLYBL-AS1   CLYBL-AS2   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   CUL4A   DAOA   DAOA-AS1   DCT   DCUN1D2   DNAJC3   DNAJC3-DT   DOCK9   DOCK9-AS1   DOCK9-DT   DZIP1   EFNB2   ERCC5   F10   F10-AS1   F7   FAM155A   FAM155A-IT1   FARP1   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   LAMP1   LIG4   LINC00333   LINC00343   LINC00351   LINC00353   LINC00354   LINC00359   LINC00363   LINC00368   LINC00370   LINC00375   LINC00377   LINC00379   LINC00380   LINC00396   LINC00397   LINC00399   LINC00410   LINC00411   LINC00430   LINC00431   LINC00433   LINC00440   LINC00443   LINC00449   LINC00452   LINC00454   LINC00456   LINC00460   LINC00551   LINC00552   LINC00554   LINC00557   LINC00559   LINC00560   LINC00564   LINC00565   LINC00567   LINC00676   LINC01039   LINC01040   LINC01043   LINC01044   LINC01047   LINC01049   LINC01070   LINC01232   LINC01309   LINC02336   LINC02337   LOC101928841   MBNL2   MCF2L   MCF2L-AS1   METTL21C   MIR1267   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR2681   MIR3170   MIR4306   MIR4500   MIR4500HG   MIR4501   MIR4502   MIR4705   MIR548AR   MIR548AS   MIR622   MIR623   MIR8073   MIR8075   MIR92A1   MYO16   MYO16-AS1   NALCN   NALCN-AS1   NAXD   OXGR1   PCCA   PCCA-AS1   PCID2   POGLUT2   PRECSIT   PROZ   RAB20   RAP2A   RASA3   RNF113B   RNU6-67P   RNU6-72P   RNU6-75P   RNU6-83P   SLC10A2   SLC15A1   SLITRK1   SLITRK5   SLITRK6   SNORA107   SOX1   SOX1-OT   SOX21   SOX21-AS1   SPACA7   STK24   STK24-AS1   TEX29   TEX30   TFDP1   TGDS   TM9SF2   TMCO3   TMEM255B   TMTC4   TNFSF13B   TPP2   TRF-GAA1-5   TUBGCP3   UBAC2   UBAC2-AS1   UGGT2   UPF3A   ZIC2   ZIC5  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_80628584)_(114327173_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381380,628,584 - 114,327,173CLINVAR
GRCh371381,202,719 - 115,085,141CLINVAR
Build 361380,100,720 - 114,110,750CLINVAR
Cytogenetic Map1313q31.1-34CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability

Additional Information

CRRD Object Information
CRRD ID: 8620687
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


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