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Variant : CV72541 (GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3) Homo sapiens

Symbol: CV72541
Name: GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACR   ADM2   ALG12   ARHGAP8   ARSA   ATXN10   BRD1   C22orf34   CDPF1   CELSR1   CERK   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   FAM118A   FBLN1   GRAMD4   GTSE1   GTSE1-DT   HDAC10   IL17REL   KIAA0930   KLHDC7B   LINC00898   LINC00899   LINC01310   LINC01589   LINC01644   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIR1249   MIR3201   MIR3619   MIR3667   MIR4535   MIR4762   MIR4763   MIR6821   MIRLET7A3   MIRLET7B   MIRLET7BHG   MLC1   MOV10L1   NCAPH2   NUP50   NUP50-DT   ODF3B   PANX2   PHF21B   PIM3   PKDREJ   PLXNB2   PPARA   PPP6R2   PRR34   PRR34-AS1   PRR5   PRR5-ARHGAP8   RIBC2   SBF1   SCO2   SELENOO   SHANK3   SMC1B   SYCE3   TAFA5   TBC1D22A   TBC1D22A-AS1   TRABD   TRMU   TTC38   TTLL8   TUBGCP6   TYMP   UPK3A   WNT7B   ZBED4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_45096692)_(51178264_?)dup
NC_000022.9:g.(?_43475356)_(49525130_?)dup
NC_000022.11:g.(?_44700812)_(50739836_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382244,700,812 - 50,739,836CLINVAR
GRCh372245,096,692 - 51,178,264CLINVAR
Build 362243,475,356 - 49,525,130CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618701
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.