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Variant : CV73237 (GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4) Homo sapiens

Symbol: CV73237
Name: GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB7   ACSL4   ACTRT1   ADGRG4   AGTR2   AIFM1   AKAP14   ALG13   AMMECR1   AMOT   APLN   APOOL   ARHGAP36   ARHGEF6   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   ATP11C   ATP1B4   ATP7A   ATRX   BCORL1   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BRAFP1   BRS3   BRWD3   BTK   C1GALT1C1   CAPN6   CCDC160   CD40LG   CDX4   CENPI   CHIC1   CHM   CHRDL1   CLDN2   COL4A5   COL4A6   COX7B   CPXCR1   CSTF2   CT45A1   CT45A10   CT45A2   CT45A3   CT45A5   CT45A6   CT45A7   CT45A8   CT45A9   CT47A1   CT47A10   CT47A11   CT47A12   CT47A2   CT47A3   CT47A4   CT47A5   CT47A6   CT47A7   CT47A8   CT47A9   CT47B1   CT55   CT83   CUL4B   CXorf56   CXorf66   CYLC1   CYSLTR1   DACH2   DANT2   DCAF12L1   DCAF12L2   DCX   DIAPH2   DIAPH2-AS1   DOCK11   DRP2   ELF4   ENOX2   ESX1   ETDA   ETDB   F9   FAM122B   FAM122C   FAM133A   FAM199X   FGF13   FGF13-AS1   FGF16   FHL1   FIRRE   FRMD7   FRMPD3   FRMPD3-AS1   FTX   GLA   GLRA4   GLUD2   GPC3   GPC4   GPR101   GPR119   GPR174   GPRASP1   GPRASP2   GRIA3   GUCY2F   H2BW1   H2BW2   HDX   HMGN5   HNRNPH2   HPRT1   HS6ST2   HS6ST2-AS1   HTATSF1   HTR2C   IGSF1   IL13RA1   IL13RA2   IL1RAPL2   INTS6L   INTS6L-AS1   IRS4   ITM2A   JPX   KCNE5   KIAA1210   KLHL13   KLHL4   LAMP2   LHFPL1   LINC00629   LINC00630   LINC00892   LINC01201   LINC01285   LINC01402   LINC02243   LONRF3   LPAR4   LRCH2   LUZP4   MAGEE1   MAGEE2   MAGT1   MAP7D3   MBNL3   MCF2   MCTS1   MID2   MIR106A   MIR1264   MIR1277   MIR1298   MIR1321   MIR18B   MIR1911   MIR1912   MIR19B2   MIR20B   MIR325   MIR325HG   MIR361   MIR363   MIR3672   MIR374A   MIR374B   MIR374C   MIR384   MIR3978   MIR421   MIR424   MIR4328   MIR4329   MIR448   MIR450A1   MIR450A2   MIR450B   MIR503   MIR503HG   MIR504   MIR505   MIR542   MIR545   MIR548AN   MIR548I4   MIR548M   MIR652   MIR764   MIR766   MIR92A2   MIR934   MMGT1   MORC4   MORF4L2   MORF4L2-AS1   MOSPD1   MYCLP1   NAP1L2   NAP1L3   NCBP2L   NDUFA1   NEXMIF   NKAP   NKRF   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF4   NXF5   NXT2   OCRL   OR13H1   P2RY10   PABPC1L2A   PABPC5   PABPC5-AS1   PAK3   PBDC1   PCDH11X   PCDH19   PGAM4   PGK1   PGRMC1   PHF6   PIH1D3   PLAC1   PLP1   PLS3   PLS3-AS1   POF1B   POU3F4   PRPS1   PRR32   PSMD10   PWWP3B   RAB33A   RAB40A   RAB40AL   RAB9B   RADX   RAP2C   RAP2C-AS1   RBM41   RBMX   RBMX2   RBMXL3   RHOXF1   RHOXF1-AS1   RHOXF1P1   RHOXF2   RHOXF2B   RIPPLY1   RLIM   RNF113A   RNF128   RNU6-30P   RPA4   RPL36A   RPL36A-HNRNPH2   RPL39   RPS6KA6   RTL3   RTL4   RTL8A   RTL8B   RTL8C   RTL9   SAGE1   SAGE2P   SASH3   SATL1   SEPTIN6   SERPINA7   SERTM2   SH2D1A   SH3BGRL   SLC16A2   SLC25A14   SLC25A43   SLC25A5   SLC25A5-AS1   SLC25A53   SLC6A14   SLC9A6   SMARCA1   SMIM10   SMIM10L2A   SMIM10L2B   SMIM10L2B-AS1   SNORA35   SNORA69   SNORD61   SNORD96B   SOWAHD   SRPX2   STAG2   STK26   SYTL4   TAF7L   TAF9B   TBC1D8B   TBX22   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TENM1   TENT5D   TEX13A   TEX13B   TEX13C   TEX13D   TFDP3   TGIF2LX   THOC2   TIMM8A   TMEM164   TMEM255A   TMEM31   TMEM35A   TMSB15A   TMSB15B   TNMD   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSIX   TSPAN6   UBE2A   UPF3B   UPRT   USP26   UTP14A   VGLL1   VSIG1   WDR44   XACT   XIAP   XIST   XKRX   XPNPEP2   ZBTB33   ZCCHC12   ZCCHC13   ZCCHC18   ZDHHC15   ZDHHC9   ZIC3   ZMAT1   ZNF280C   ZNF449   ZNF711   ZNF75D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_73008114)_(140201321_?)dup
NC_000023.10:g.(?_72227953)_(139283477_?)dup
NC_000023.9:g.(?_72144678)_(139111143_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X73,008,114 - 140,201,321CLINVAR
GRCh37X72,227,953 - 139,283,477CLINVAR
Build 36X72,144,678 - 139,111,143CLINVAR
Cytogenetic MapXXq13.2-27.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619405
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.