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Variant : CV72627 (GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3) Homo sapiens

Symbol: CV72627
Name: GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCE1   ABHD18   ADAD1   ADH1A   ADH1B   ADH1C   ADH4   ADH5   ADH6   ADH7   AIMP1   ALPK1   ANAPC10   ANK2   ANKRD50   ANP32C   ANXA5   AP1AR   APELA   ARFIP1   ARHGAP10   ARHGEF38   ARHGEF38-IT1   ARSJ   ASIC5   ATOH1   BANK1   BBS12   BBS7   BDH2   BMPR1B   BMPR1B-DT   BTF3P13   C4orf17   C4orf3   C4orf33   C4orf45   C4orf46   C4orf51   CAMK2D   CASP6   CCNA2   CENPE   CFI   CISD2   CLGN   COL25A1   COL25A1-DT   COX7A2P2   CTSO   CXXC4   CXXC4-AS1   CYP2U1   DAPP1   DCHS2   DCLK2   DDIT4L   DKK2   DNAJB14   EDNRA   EGF   EIF4E   ELF2   ELMOD2   ELOVL6   EMCN   ENPEP   ETFDH   ETNPPL   EXOSC9   FABP2   FAM160A1   FAM160A1-DT   FAM218A   FAM241A   FAT4   FBXW7   FBXW7-AS1   FGA   FGB   FGF2   FGG   FHDC1   FNIP2   FREM3   FSTL5   GAB1   GAR1   GASK1B   GATB   GIMD1   GK3P   GLRB   GRIA2   GRID2   GSTCD   GUCY1A1   GUCY1B1   GYPA   GYPB   GYPE   H2AZ1   HADH   HHIP   HHIP-AS1   HPGDS   HSPA4L   IL15   IL2   IL21   IL21-AS1   INPP4B   INTS12   INTU   IQCM   JADE1   KIAA1109   KLHL2   LAMTOR3   LARP1B   LARP7   LEF1   LEF1-AS1   LINC00498   LINC00499   LINC00613   LINC00616   LINC01061   LINC01091   LINC01095   LINC01216   LINC01218   LINC01256   LINC01365   LINC01378   LINC02172   LINC02173   LINC02262   LINC02263   LINC02264   LINC02266   LINC02267   LINC02273   LINC02276   LINC02355   LINC02377   LINC02379   LINC02428   LINC02432   LINC02433   LINC02462   LINC02466   LINC02479   LINC02485   LINC02491   LINC02502   LINC02507   LINC02510   LINC02511   LINC02516   LRAT   LRBA   LRIT3   LSM6   MAB21L2   MAD2L1   MAML3   MANBA   MAP9   MARCHF1   MCUB   METAP1   METTL14   MFSD8   MGARP   MGAT4D   MGST2   MIR1243   MIR1255A   MIR1973   MIR2054   MIR297   MIR302A   MIR302B   MIR302C   MIR302D   MIR3139   MIR3140   MIR367   MIR3684   MIR3688-1   MIR3688-2   MIR4453   MIR4453HG   MIR4454   MIR4799   MIR548G   MIR576   MIR577   MIR7849   MIR8066   MIR8082   MMAA   MND1   MTTP   MYOZ2   NAA15   NAF1   NDNF   NDST3   NDST4   NDUFC1   NEUROG2   NFKB1   NOCT   NPNT   NPY1R   NPY2R   NPY5R   NR3C2   NUDT6   OSTC   OTUD4   PABPC4L   PAPSS1   PCDH10   PCDH18   PDE5A   PDGFC   PDHA2   PDLIM5   PGRMC2   PITX2   PLA2G12A   PLK4   PLRG1   POU4F2   PPA2   PPID   PPP3CA   PRDM5   PRMT9   PRSS12   PRSS48   QRFPR   RAB33B   RAP1GDS1   RAPGEF2   RBM46   REELD1   RNF150   RNF175   RNU6-34P   RNU6-35P   RPL34   RPL34-AS1   RPS3A   RRH   RXFP1   SCLT1   SCOC   SCOC-AS1   SEC24B   SEC24B-AS1   SEC24D   SETD7   SFRP2   SGMS2   SH3D19   SLC10A7   SLC25A31   SLC39A8   SLC7A11   SLC7A11-AS1   SLC9B1   SLC9B2   SMAD1   SMAD1-AS1   SMAD1-AS2   SMARCA5   SMARCA5-AS1   SMARCAD1   SMIM31   SNHG27   SNHG8   SNORA101A   SNORA24   SNORD73A   SNORD73B   SPATA5   SPRY1   STPG2   STPG2-AS1   SYNPO2   TACR3   TBC1D9   TBCK   TDO2   TET2   TET2-AS1   TIFA   TIGD4   TKTL2   TLR2   TMA16   TMEM131L   TMEM144   TMEM154   TMEM155   TMEM184C   TMEM192   TNIP3   TRAM1L1   TRC-GCA2-1   TRIM2   TRIM60   TRIM61   TRMT10A   TRPC3   TSPAN5   TTC29   UBE2D3   UCP1   UGT8   UNC5C   USP38   USP53   ZGRF1   ZNF330   ZNF827  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_92913386)_(165299707_?)dup
NC_000004.11:g.(?_93834537)_(166220859_?)dup
NC_000004.10:g.(?_94053560)_(166440309_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38492,913,386 - 165,299,707CLINVAR
GRCh37493,834,537 - 166,220,859CLINVAR
Build 36494,053,560 - 166,440,309CLINVAR
Cytogenetic Map44q22.2-32.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618787
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.