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Variant : CV514210 (GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)) Homo sapiens

Symbol: CV514210
Name: GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)
Condition: Global developmental delay [RCV000626548]|Seizures [RCV000626548]
Clinical Significance: likely pathogenic
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: ABCA1   ABCA2   ABHD17B   ABITRAM   ABL1   ABO   ACTL7A   ACTL7B   ADAMTS13   ADAMTSL2   ADGRD2   AGPAT2   AGTPBP1   AIF1L   AJM1   AK1   AK8   AKNA   ALAD   ALDH1A1   ALDOB   ALG2   AMBP   ANAPC2   ANGPTL2   ANKS6   ANP32B   ANXA1   AOPEP   APBA1   ARPC5L   ARRDC1   ASB6   ASPN   ASS1   ASTN2   ATP6V1G1   AUH   BAAT   BANCR   BARHL1   BARX1   BICD2   BRD3   BRINP1   BSPRY   C5   C8G   C9orf106   C9orf116   C9orf129   C9orf135   C9orf139   C9orf152   C9orf153   C9orf16   C9orf163   C9orf40   C9orf43   C9orf47   C9orf50   C9orf57   C9orf62   C9orf64   C9orf78   C9orf85   CACFD1   CACNA1B   CAMSAP1   CARD19   CARD9   CARNMT1   CARNMT1-AS1   CAVIN4   CCDC180   CCDC183   CDC14B   CDC26   CDK20   CDK5RAP2   CDK9   CEL   CEMIP2   CENPP   CEP78   CERCAM   CFAP157   CFAP77   CIZ1   CKS2   CLIC3   CNTRL   COL15A1   COL27A1   COL5A1   COQ4   CORO2A   CRAT   CRB2   CTNNAL1   CTSL   CTSV   CYLC2   CYSRT1   DAB2IP   DAPK1   DAPK1-IT1   DBH   DDX31   DELEC1   DENND1A   DIPK1B   DIRAS2   DNAJC25   DNAJC25-GNG10   DNLZ   DNM1   DOLK   DOLPP1   DPH7   DPM2   DPP7   ECM2   ECPAS   EDF1   EGFL7   EHMT1   ELP1   ENDOG   ENG   ENTPD2   ENTPD8   ENTR1   EPB41L4B   ERCC6L2   ERP44   EXD3   EXOSC2   FAM102A   FAM120A   FAM120AOS   FAM122A   FAM163B   FAM166A   FAM189A2   FAM78A   FANCC   FBP1   FBP2   FBXW2   FBXW5   FCN1   FCN2   FGD3   FIBCD1   FKBP15   FKTN   FNBP1   FOXB2   FOXE1   FPGS   FRMD3   FRRS1L   FSD1L   FUBP3   FUT7   FXN   GABBR2   GADD45G   GALNT12   GAPVD1   GARNL3   GAS1   GBGT1   GCNT1   GDA   GFI1B   GKAP1   GLE1   GLT6D1   GNA14   GNAQ   GNG10   GOLGA1   GOLGA2   GOLM1   GPR107   GPR21   GPSM1   GRIN1   GRIN3A   GSN   GTF3C4   GTF3C5   HABP4   HDHD3   HEMGN   HMCN2   HNRNPK   HSD17B3   HSDL2   HSPA5   IARS1   IDNK   IER5L   INIP   INPP5E   INVS   IPPK   ISCA1   KCNT1   KIAA1958   KIF12   KIF27   KLF4   KLF9   KYAT1   LAMC3   LCN1   LCN10   LCN12   LCN15   LCN2   LCN6   LCN8   LCN9   LCNL1   LHX2   LHX3   LHX6   LINC02872   LMX1B   LPAR1   LRRC26   LRRC8A   LRSAM1   MAMDC2   MAMDC4   MAN1B1   MAPKAP1   MED22   MED27   MEGF9   MFSD14B   MIGA2   MIR126   MIR181A2   MIR181A2HG   MIR181B2   MIR199B   MIR204   MIR23B   MIR24-1   MIR27B   MIR2861   MIR32   MIR7-1   MIRLET7A1   MIRLET7D   MIRLET7F1   MORN5   MRPL41   MRPL50   MRPS2   MRRF   MSANTD3   MSANTD3-TMEFF1   MUSK   MVB12B   MYMK   NAA35   NACC2   NAIF1   NANS   NCBP1   NCS1   NDOR1   NDUFA8   NEK6   NELFB   NFIL3   NIBAN2   NINJ1   NIPSNAP3A   NIPSNAP3B   NMRK1   NOL8   NOTCH1   NOXA1   NPDC1   NR4A3   NR5A1   NR6A1   NRARP   NRON   NSMF   NTMT1   NTNG2   NTRK2   NUP188   NUP214   NUTM2F   NUTM2G   NXNL2   OBP2A   OBP2B   ODF2   OGN   OLFM1   OLFML2A   OMD   OR13C2   OR13C3   OR13C4   OR13C5   OR13C8   OR13C9   OR13D1   OR13F1   OR1B1   OR1J1   OR1J2   OR1J4   OR1K1   OR1L1   OR1L3   OR1L4   OR1L6   OR1L8   OR1N1   OR1N2   OR1Q1   OR2K2   OR5C1   ORM1   ORM2   OSTF1   PAEP   PALM2AKAP2   PAPPA   PAPPA-AS1   PAXX   PBX3   PCA3   PCSK5   PDCL   PGAP4   PGM5   PHF19   PHF2   PHPT1   PHYHD1   PIP5K1B   PIP5KL1   PKN3   PLPP7   PMPCA   PNPLA7   POLE3   POMT1   PPP1R26   PPP3R2   PPP6C   PRDM12   PRKACG   PRPF4   PRRC2B   PRRX2   PRSS47   PRUNE2   PRXL2C   PSAT1   PSMB7   PSMD5   PTAR1   PTBP3   PTCH1   PTGDS   PTGES   PTGES2   PTGR1   PTGS1   PTPA   PTPDC1   PTPN3   PTRH1   QRFP   QSOX2   RAB14   RABEPK   RABGAP1   RABL6   RAD23B   RALGDS   RALGPS1   RAPGEF1   RASEF   RBM18   RC3H2   REXO4   RFK   RGS3   RMI1   RNF183   RNF20   RNF208   RNF224   RNU6ATAC   ROR2   RORB   RPL12   RPL35   RPL7A   RXRA   S1PR3   SAPCD2   SARDH   SCAI   SEC16A   SEC61B   SECISBP2   SEMA4D   SET   SETX   SH2D3C   SH3GLB2   SHC3   SHOC1   SLC25A25   SLC27A4   SLC28A3   SLC2A6   SLC2A8   SLC31A1   SLC31A2   SLC34A3   SLC35D2   SLC44A1   SLC46A2   SMC2   SMC5   SNAPC4   SNHG7   SNX30   SOHLH1   SPACA9   SPATA31C1   SPATA31C2   SPATA31D1   SPATA31D3   SPATA31D4   SPATA31E1   SPIN1   SPOUT1   SPTAN1   SPTLC1   SSNA1   ST6GALNAC4   ST6GALNAC6   STKLD1   STOM   STPG3   STRBP   STX17   STXBP1   SURF1   SURF2   SURF4   SURF6   SUSD1   SUSD3   SVEP1   SWI5   SYK   TAL2   TBC1D13   TBC1D2   TDRD7   TEX10   TGFBR1   TJP2   TLE1   TLE4   TLR4   TMC1   TMEFF1   TMEM141   TMEM203   TMEM210   TMEM245   TMEM250   TMEM252   TMEM268   TMEM38B   TMOD1   TNC   TNFSF15   TNFSF8   TOR1A   TOR1B   TOR2A   TOR4A   TPRN   TRAF1   TRAF2   TRIM14   TRIM32   TRMO   TRPM3   TRPM6   TRUB2   TSC1   TSTD2   TTC16   TTF1   TTLL11   TTLL11-IT1   TUBB4B   TUT7   TXN   TXNDC8   UAP1L1   UBAC1   UBQLN1   UCK1   UGCG   URM1   USP20   VAV2   VPS13A   WDR31   WDR34   WDR38   WDR5   WHRN   WNK2   XPA   ZBTB26   ZBTB34   ZBTB43   ZBTB6   ZDHHC12   ZER1   ZFAND5   ZFP37   ZMYND19   ZNF169   ZNF189   ZNF367   ZNF462   ZNF483   ZNF484   ZNF510   ZNF618   ZNF782   ZNF79   ZNF883  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37971,069,743 - 140,999,928CLINVAR
Cytogenetic Map99q21.11-34.3CLINVAR
Trait Synonyms: Cognitive delay; Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay in early childhood; Developmental retardation; Epilepsy; Lack of psychomotor development; Mental and motor retardation; Motor and developmental delay; Muscle hypotonia; Muscular hypotonia; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Psychomotor retardation; Retarded development; Retarded mental development; Retarded psychomotor development; Seizure; Seizures



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13611896
Created: 2018-06-12
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.