GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3Rat Genome Database
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Variant : CV74299 (GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3) Homo sapiens

Symbol: CV74299
Name: GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3
RGD ID: 8620486
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC2   ABLIM1   ABRAXAS2   ACADSB   ACSL5   ACSM6   ACTR1A   ADAM12   ADAM8   ADD3   ADD3-AS1   ADGRA1   ADGRA1-AS1   ADRA2A   ADRB1   AFAP1L2   ALDH18A1   ANKRD2   ARHGAP19   ARHGAP19-SLIT1   ARL3   ARMH3   ARMS2   AS3MT   ATE1   ATE1-AS1   ATP5MK   ATRNL1   AVPI1   BAG3   BBIP1   BCCIP   BLNK   BLOC1S2   BNIP3   BORCS7   BORCS7-ASMT   BTAF1   BTBD16   BTRC   BUB3   C10orf120   C10orf143   C10orf62   C10orf82   C10orf88   C10orf90   C10orf95   C10orf95-AS1   CACUL1   CALHM1   CALHM2   CALHM3   CALY   CASC2   CASP7   CC2D2B   CCDC172   CCDC186   CCNJ   CEP55   CFAP43   CFAP46   CFAP58   CFAP58-DT   CHST15   CHUK   CLRN3   CNNM1   CNNM2   COL17A1   COX15   CPEB3   CPN1   CPXM2   CRTAC1   CTBP2   CUEDC2   CUTC   CUZD1   CWF19L1   CYP17A1   CYP17A1-AS1   CYP26A1   CYP26C1   CYP2C18   CYP2C19   CYP2C8   CYP2C9   CYP2E1   DCLRE1A   DENND10   DHX32   DMBT1   DNMBP   DNMBP-AS1   DNTT   DOCK1   DPCD   DPYSL4   DUSP5   EBF3   ECHS1   EDRF1   EDRF1-AS1   EEF1AKMT2   EIF3A   ELOVL3   EMX2   EMX2OS   ENO4   ENTPD1   ENTPD1-AS1   ENTPD7   ERLIN1   EXOC6   EXOSC1   FAM160B1   FAM204A   FAM24A   FAM24B   FAM53B   FAM53B-AS1   FANK1   FANK1-AS1   FBXL15   FBXW4   FFAR4   FGF8   FGFBP3   FGFR2   FOXI2   FRA10AC1   FRAT1   FRAT2   FUOM   GBF1   GFRA1   GLRX3   GOLGA7B   GOT1   GPAM   GPR26   GRK5   GRK5-IT1   GSTO1   GSTO2   HABP2   HECTD2   HECTD2-AS1   HELLS   HHEX   HIF1AN   HMX2   HMX3   HOGA1   HPS1   HPS6   HPSE2   HSPA12A   HTRA1   IDE   IKZF5   INA   INPP5A   INPP5F   INSYN2A   ITPRIP   JAKMIP3   KAZALD1   KCNIP2   KCNIP2-AS1   KCNK18   KIF11   KNDC1   LBX1   LBX1-AS1   LCOR   LDB1   LGI1   LHPP   LINC00502   LINC00601   LINC00866   LINC00867   LINC01153   LINC01163   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC01435   LINC01475   LINC01514   LINC01561   LINC02870   LOXL4   LRRC27   LZTS2   MARCHF5   MARVELD1   MCMBP   MFSD13A   MGMT   MIR1287   MIR1307   MIR146B   MIR202   MIR202HG   MIR2110   MIR3157   MIR3158-1   MIR3158-2   MIR3663   MIR3663HG   MIR378C   MIR3941   MIR3944   MIR4295   MIR4296   MIR4297   MIR4482   MIR4483   MIR4484   MIR4680   MIR4681   MIR4682   MIR4685   MIR548E   MIR607   MIR608   MIR609   MIR6507   MIR6715A   MIR6715B   MIR936   MKI67   MMP21   MMS19   MORN4   MRPL43   MTG1   MXI1   MYOF   NANOS1   NDUFB8   NEURL1   NEURL1-AS1   NFKB2   NHLRC2   NKX1-2   NKX2-3   NKX6-2   NOC3L   NOLC1   NPM3   NPS   NRAP   NSMCE4A   NT5C2   OAT   OGA   OLMALINC   OPALIN   PAOX   PAX2   PCGF5   PCGF6   PDCD11   PDCD4   PDCD4-AS1   PDE6C   PDLIM1   PDZD7   PDZD8   PGAM1   PI4K2A   PIK3AP1   PITX3   PKD2L1   PLCE1   PLCE1-AS1   PLCE1-AS2   PLEKHA1   PLEKHS1   PLPP4   PNLIP   PNLIPRP1   PNLIPRP2   PNLIPRP3   POLL   PPP1R3C   PPP2R2D   PPRC1   PRAP1   PRDX3   PRLHR   PSD   PSTK   PTPRE   PWWP2B   PYROXD2   R3HCC1L   RAB11FIP2   RBM20   RBP4   RGS10   RPEL1   RRP12   SCD   SEC23IP   SEC31B   SEMA4G   SFR1   SFRP5   SFXN2   SFXN3   SFXN4   SH3PXD2A   SH3PXD2A-AS1   SHOC2   SHTN1   SLC18A2   SLC25A28   SLC35G1   SLF2   SLIT1   SLIT1-AS1   SLK   SMC3   SMNDC1   SNORA12   SNORA19   SNORA87   SORBS1   SORCS1   SORCS3   SORCS3-AS1   SPRN   STK32C   STN1   SUFU   SYCE1   TACC2   TAF5   TBC1D12   TCERG1L   TCERG1L-AS1   TCF7L2   TCTN3   TDRD1   TECTB   TEX36   TEX36-AS1   TIAL1   TLL2   TLX1   TLX1NB   TM9SF3   TNKS2   TNKS2-AS1   TRIM8   TRUB1   TUBGCP2   TWNK   UBTD1   UROS   UTF1   VAX1   VENTX   VTI1A   VWA2   WBP1L   WDR11   WDR11-AS1   WNT8B   XPNPEP1   ZDHHC16   ZDHHC6   ZFYVE27   ZNF511   ZNF518A   ZRANB1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_91048545)_(133620674_?)dup
NC_000010.10:g.(?_92808302)_(135434178_?)dup
NC_000010.9:g.(?_92798282)_(135284168_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381091,048,545 - 133,620,674CLINVAR
GRCh371092,808,302 - 135,434,178CLINVAR
Build 361092,798,282 - 135,284,168CLINVAR
Cytogenetic Map1010q23.31-26.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information