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Variant : CV73759 (GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3) Homo sapiens

Symbol: CV73759
Name: GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AAMP   ABCA12   ABCB6   ACSL3   ANKZF1   AP1S3   ARPC2   ASIC4   ATG9A   ATIC   BARD1   BCS1L   CATIP   CATIP-AS1   CATIP-AS2   CCDC140   CDK5R2   CFAP65   CHPF   CNOT9   CNPPD1   COL4A4   CRYBA2   CTDSP1   CUL3   CXCR1   CXCR2   CYP27A1   DES   DIRC3   DIRC3-AS1   DNAJB2   DNPEP   DOCK10   EPHA4   FAM124B   FARSB   FEV   FN1   GLB1L   GMPPA   GPBAR1   IGFBP2   IGFBP5   IHH   IKZF2   INHA   IRS1   KCNE4   LINC00607   LINC00608   LINC01280   LINC01494   LINC01614   LINC01803   LINC01878   LINC01921   LINC01953   LINC01963   MARCHF4   MIR153-1   MIR26B   MIR3131   MIR3132   MIR375   MIR4268   MIR4438   MIR4439   MIR4776-1   MIR4776-2   MIR5702   MIR6513   MIR6809   MIR6810   MIR9500   MOGAT1   MREG   MRPL44   NHEJ1   NYAP2   OBSL1   PAX3   PECR   PLCD4   PNKD   PRKAG3   PTPRN   RESP18   RETREG2   RHBDD1   RNF25   RPL37A   RUFY4   SCG2   SERPINE2   SGPP2   SLC11A1   SLC23A3   SLC4A3   SMARCAL1   SPAG16   SPEG   STK11IP   STK16   STK36   TMBIM1   TMEM169   TMEM198   TNP1   TNS1   TRY-ATA1-1   TTLL4   TUBA4A   TUBA4B   USP37   VIL1   VWC2L   VWC2L-IT1   WDFY1   WNT10A   WNT6   XRCC5   ZFAND2B   ZNF142  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_212614422)_(227121230_?)dup
NC_000002.11:g.(?_213479146)_(227985946_?)dup
NC_000002.10:g.(?_213187391)_(227694190_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382212,614,422 - 227,121,230CLINVAR
GRCh372213,479,146 - 227,985,946CLINVAR
Build 362213,187,391 - 227,694,190CLINVAR
Cytogenetic Map22q34-36.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619933
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.