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Variant : CV72579 (GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3) Homo sapiens

Symbol: CV72579
Name: GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051726]|See cases [RCV000051726]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC5   ABCC5-AS1   ABCF3   ACAP2   ACTL6A   ACTRT3   ADIPOQ   ADIPOQ-AS1   AHSG   ALG3   AP2M1   APOD   ARL14   ATP11B   ATP13A3   ATP13A4   ATP13A4-AS1   ATP13A5   ATP13A5-AS1   B3GALNT1   B3GNT5   BCHE   BCL6   BDH1   C3orf70   C3orf80   CAMK2N2   CCDC39   CCDC50   CEP19   CHRD   CLCN2   CLDN1   CLDN11   CLDN16   CPN2   CRYGS   DCUN1D1   DGKG   DLG1   DLG1-AS1   DNAJB11   DNAJC19   DVL3   ECE2   ECT2   EEF1AKMT4   EEF1AKMT4-ECE2   EHHADH   EHHADH-AS1   EIF2B5   EIF4A2   EIF4G1   EIF5A2   EPHB3   ETV5   FAM131A   FAM43A   FBXO45   FETUB   FGF12   FGF12-AS1   FGF12-AS2   FGF12-AS3   FLJ42393   FNDC3B   FXR1   FYTTD1   GFM1   GHSR   GMNC   GNB4   GOLIM4   GP5   GPR160   HES1   HRG   HTR3C   HTR3D   HTR3E   HTR3E-AS1   IFT80   IGF2BP2   IGF2BP2-AS1   IL12A   IL12A-AS1   IL1RAP   IQCG   IQCJ   IQCJ-SCHIP1   IQCJ-SCHIP1-AS1   KCNMB2   KCNMB2-AS1   KCNMB3   KLHL24   KLHL6   KLHL6-AS1   KNG1   KPNA4   LAMP3   LINC00501   LINC00578   LINC00884   LINC00885   LINC00887   LINC00888   LINC01014   LINC01063   LINC01100   LINC01192   LINC01206   LINC01208   LINC01209   LINC01322   LINC01324   LINC01327   LINC01839   LINC01840   LINC01968   LINC01972   LINC01983   LINC01991   LINC01994   LINC01995   LINC01997   LINC02012   LINC02013   LINC02015   LINC02020   LINC02023   LINC02026   LINC02028   LINC02031   LINC02036   LINC02037   LINC02038   LINC02041   LINC02043   LINC02048   LINC02052   LINC02053   LINC02054   LINC02067   LINC02068   LINC02069   LINC02082   LIPH   LMLN   LMLN-AS1   LPP   LPP-AS1   LPP-AS2   LRCH3   LRRC15   LRRC31   LRRC34   LRRIQ4   LSG1   LXN   MAGEF1   MAP3K13   MAP6D1   MASP1   MB21D2   MCCC1   MCF2L2   MECOM   MECOM-AS1   MELTF   MELTF-AS1   MFN1   MFSD1   MIR1224   MIR1248   MIR1263   MIR15B   MIR16-2   MIR28   MIR3137   MIR3919   MIR4448   MIR4789   MIR4797   MIR548AQ   MIR551B   MIR5588   MIR569   MIR570   MIR570HG   MIR6828   MIR6829   MIR7977   MIR922   MIR944   MLF1   MRPL47   MUC20   MUC4   MYNN   NAALADL2   NAALADL2-AS1   NAALADL2-AS2   NAALADL2-AS3   NCBP2   NCBP2-AS1   NCBP2AS2   NCEH1   NDUFB5   NLGN1   NLGN1-AS1   NMD3   NRROS   OPA1   OPA1-AS1   OSTN   OSTN-AS1   OTOL1   P3H2   P3H2-AS1   PAK2   PARL   PCYT1A   PDCD10   PEX5L   PEX5L-AS2   PHC3   PIGX   PIGZ   PIK3CA   PLAAT1   PLD1   POLR2H   PPM1L   PPP1R2   PRKCI   PSMD2   PTX3   PYDC2   RARRES1   RFC4   RNF168   RPL22L1   RPL35A   RPL39L   RSRC1   RTP1   RTP2   RTP4   RUBCN   SAMD7   SCARNA7   SCHIP1   SEC62   SENP2   SENP5   SERPINI1   SERPINI2   SHOX2   SI   SKIL   SLC2A2   SLC51A   SLC66A1L   SLC7A14   SLC7A14-AS1   SLITRK3   SMC4   SMCO1   SNAR-I   SNORA4   SNORA63   SNORA63B   SNORA63D   SNORA63E   SNORA81   SNORD2   SNORD66   SOX2   SOX2-OT   SPATA16   SPTSSB   SST   ST6GAL1   TBCCD1   TBL1XR1   TCTEX1D2   TERC   TFRC   THPO   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   TMEM207   TMEM212   TMEM212-AS1   TMEM41A   TMEM44   TMEM44-AS1   TNFSF10   TNIK   TNK2   TNK2-AS1   TP63   TPRG1   TPRG1-AS1   TPRG1-AS2   TRA2B   TRIM59   TRV-AAC1-1   TTC14   UBXN7   UBXN7-AS1   USP13   UTS2B   VEPH1   VPS8   VWA5B2   WDR49   WDR53   XXYLT1   XXYLT1-AS1   XXYLT1-AS2   YEATS2   YEATS2-AS1   ZBBX   ZDHHC19   ZMAT3   ZNF639  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.(?_157011167)_(197861598_?)dup
NC_000003.10:g.(?_158493861)_(199345995_?)dup
NC_000003.12:g.(?_157293378)_(198134727_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383157,293,378 - 198,134,727CLINVAR
GRCh373157,011,167 - 197,861,598CLINVAR
Build 363158,493,861 - 199,345,995CLINVAR
Cytogenetic Map33q25.31-29CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618739
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.