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Variant : CV74256 (GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3) Homo sapiens

Symbol: CV74256
Name: GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABI1   ACBD5   ACBD7   ADARB2   ADARB2-AS1   AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   ANKRD16   ANKRD26   APBB1IP   ARHGAP21   ARL5B   ARMC3   ASB13   ATP5F1C   BAMBI   BEND7   BMI1   C10orf126   C10orf67   C1QL3   CACNB2   CALML3   CALML3-AS1   CALML5   CAMK1D   CCDC3   CDC123   CDNF   CELF2   CELF2-AS1   CELF2-AS2   COMMD3   COMMD3-BMI1   CUBN   DCLRE1C   DHTKD1   DIP2C   DIP2C-AS1   DNAJC1   EBLN1   ECHDC3   ENKUR   FAM107B   FAM171A1   FAM238A   FAM238B   FAM238C   FBH1   FRMD4A   GAD2   GATA3   GATA3-AS1   GDI2   GPR158   GPR158-AS1   GTPBP4   HACD1   HSPA14   IDI1   IDI2   IDI2-AS1   IL15RA   IL2RA   ITGA8   ITIH2   ITIH5   KIAA1217   KIN   KLF6   LARP4B   LINC00200   LINC00700   LINC00701   LINC00702   LINC00703   LINC00705   LINC00706   LINC00707   LINC00708   LINC00709   LINC00710   LINC00836   LINC00837   LINC01516   LINC01517   MALRD1   MANCR   MASTL   MCM10   MEIG1   MINDY3   MIR1265   MIR1915   MIR1915HG   MIR3155A   MIR3155B   MIR4293   MIR4480   MIR4481   MIR4675   MIR511   MIR548AK   MIR548Q   MIR5699   MIR603   MIR6072   MIR6078   MIR8086   MKX   MKX-AS1   MLLT10   MPP7   MRC1   MSRB2   MYO3A   NEBL   NEBL-AS1   NET1   NMT2   NSUN6   NUDT5   ODAD2   ODAD2P1   OLAH   OPTN   OTUD1   PDSS1   PFKFB3   PFKP   PHYH   PIP4K2A   PITRM1   PITRM1-AS1   PLXDC2   PRINS   PRKCQ   PRKCQ-AS1   PROSER2   PROSER2-AS1   PRPF18   PRTFDC1   PTCHD3   PTER   PTF1A   RAB18   RBM17   RNU6-15P   RPP38   RPP38-DT   RSU1   SEC61A2   SEPHS1   SFMBT2   SKIDA1   SLC39A12   SLC39A12-AS1   SNORD129   SNORD130   SNORD142   SPAG6   ST8SIA6   ST8SIA6-AS1   STAM   STAM-AS1   SUV39H2   TAF3   TASOR2   THNSL1   TMEM236   TRDMT1   TRN-GTT2-3   TRV-TAC3-1   TUBAL3   UCMA   UCN3   UPF2   USP6NL   VIM   VIM-AS1   WAC   WAC-AS1   WDR37   YME1L1   ZMYND11  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_90421)_(29058318_?)dup
NC_000010.10:g.(?_224406)_(29347247_?)dup
NC_000010.9:g.(?_126361)_(29387253_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381090,421 - 29,058,318CLINVAR
GRCh3710224,406 - 29,347,247CLINVAR
Build 3610126,361 - 29,387,253CLINVAR
Cytogenetic Map1010p15.3-12.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620442
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.