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Variant : CV72628 (GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3) Homo sapiens

Symbol: CV72628
Name: GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051776]|See cases [RCV000051776]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD18   ADAD1   ADH1A   ADH1B   ADH1C   ADH4   ADH5   ADH6   ADH7   AIMP1   ALPK1   ANK2   ANKRD50   ANXA5   AP1AR   ARHGEF38   ARHGEF38-IT1   ARSJ   BANK1   BBS12   BBS7   BDH2   C4orf17   C4orf3   C4orf33   C4orf54   CAMK2D   CASP6   CCNA2   CENPE   CFI   CISD2   COL25A1   COL25A1-DT   CXXC4   CXXC4-AS1   CYP2U1   DAPP1   DDIT4L   DKK2   DNAJB14   EGF   EIF4E   ELOVL6   EMCN   ENPEP   ETNPPL   EXOSC9   FABP2   FAM241A   FAT4   FGF2   GAR1   GIMD1   GSTCD   H2AZ1   HADH   HSPA4L   IL2   IL21   IL21-AS1   INTS12   INTU   JADE1   KIAA1109   LAMTOR3   LARP1B   LARP7   LEF1   LEF1-AS1   LINC00613   LINC01061   LINC01091   LINC01216   LINC01218   LINC01256   LINC01365   LINC01378   LINC02173   LINC02262   LINC02263   LINC02264   LINC02267   LINC02377   LINC02379   LINC02428   LINC02462   LINC02465   LINC02466   LINC02479   LINC02485   LINC02502   LINC02516   LINC02615   LRIT3   MAD2L1   MANBA   MCUB   METAP1   METTL14   METTL14-DT   MFSD8   MIR1243   MIR1255A   MIR1973   MIR2054   MIR297   MIR302A   MIR302B   MIR302C   MIR302CHG   MIR302D   MIR367   MIR3684   MIR576   MIR577   MIR8066   MIR8082   MTTP   MYOZ2   NDNF   NDST3   NDST4   NEUROG2   NFKB1   NPNT   NUDT6   OSTC   PABPC4L   PANCR   PAPSS1   PCDH10   PDE5A   PGRMC2   PITX2   PLA2G12A   PLK4   PPA2   PPP3CA   PRDM5   PRSS12   QRFPR   RAP1GDS1   RPL34   RPL34-AS1   RRH   SCLT1   SEC24B   SEC24B-AS1   SEC24D   SGMS2   SLC25A31   SLC39A8   SLC9B1   SLC9B2   SNHG27   SNHG8   SNORA101A   SNORA24   SPATA5   SPRY1   STPG2   STPG2-AS1   SYNPO2   TACR3   TBCK   TET2   TET2-AS1   TIFA   TMEM155   TNIP3   TRAM1L1   TRC-GCA2-1   TRMT10A   TRPC3   TSPAN5   UBE2D3   UBE2D3-AS1   UGT8   USP53   ZGRF1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_96092893)_(136410207_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38496,092,893 - 136,410,207CLINVAR
GRCh37497,014,044 - 137,331,362CLINVAR
Build 36497,233,067 - 137,550,812CLINVAR
Cytogenetic Map44q22.3-28.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8618788
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE


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