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Variant : CV72233 (GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1) Homo sapiens

Symbol: CV72233
Name: GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051373]|See cases [RCV000051373]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKAP11   ALG11   ALG5   ALOX5AP   ARL11   ATP7B   B3GLCT   BRCA2   C13orf42   CAB39L   CBY2   CCDC122   CCDC169   CCDC169-SOHLH2   CCDC70   CCNA1   CDADC1   CKAP2   CNMD   COG3   COG6   CPB2   CPB2-AS1   CSNK1A1L   CYSLTR2   DCLK1   DGKH   DHRS12   DIAPH3   DIAPH3-AS1   DIAPH3-AS2   DLEU1   DLEU1-AS1   DLEU2   DLEU7   DLEU7-AS1   DNAJC15   EBPL   ELF1   ENOX1   ENOX1-AS2   EPSTI1   ERICH6B   ESD   EXOSC8   FAM124A   FAM216B   FNDC3A   FOXO1   FREM2   FREM2-AS1   FRY   FRY-AS1   GPALPP1   GTF2F2   HNRNPA1L2   HSPH1   HTR2A   HTR2A-AS1   INTS6   INTS6-AS1   ITM2B   KBTBD6   KBTBD7   KCNRG   KCTD4   KL   KPNA3   LACC1   LCP1   LHFPL6   LINC00330   LINC00332   LINC00345   LINC00355   LINC00358   LINC00364   LINC00366   LINC00374   LINC00376   LINC00378   LINC00383   LINC00390   LINC00395   LINC00398   LINC00400   LINC00407   LINC00423   LINC00428   LINC00434   LINC00437   LINC00444   LINC00445   LINC00448   LINC00457   LINC00458   LINC00459   LINC00462   LINC00545   LINC00547   LINC00548   LINC00550   LINC00558   LINC00562   LINC00563   LINC00571   LINC00598   LINC01048   LINC01050   LINC01052   LINC01055   LINC01065   LINC01074   LINC01075   LINC01198   LINC01442   LINC02333   LINC02338   LINC02339   LINC02341   LINC02343   LINC02344   LPAR6   LRCH1   LRRC63   MAB21L1   MED4   MED4-AS1   MEDAG   MIR1297   MIR15A   MIR16-1   MIR3168   MIR3169   MIR320D1   MIR3613   MIR4305   MIR4703   MIR4704   MIR5006   MIR5007   MIR548X2   MIR5693   MIR621   MIR759   MIR8079   MLNR   MRPS31   MTRF1   N4BP2L1   N4BP2L2   N4BP2L2-IT2   NAA16   NBEA   NEK3   NEK5   NHLRC3   NRAD1   NUDT15   NUFIP1   OLFM4   PCDH17   PCDH20   PCDH8   PCDH9   PCDH9-AS2   PCDH9-AS3   PCDH9-AS4   PDS5B   PHF11   POSTN   PROSER1   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   RB1   RB1-DT   RCBTB1   RCBTB2   RFC3   RFXAP   RGCC   RNASEH2B   RNASEH2B-AS1   RUBCNL   RXFP2   SERP2   SERPINE3   SERTM1   SETDB2   SIAH3   SLC25A15   SLC25A30   SLC25A30-AS1   SMAD9   SMIM2   SMIM2-AS1   SMIM2-IT1   SNORA31   SNORA31B   SOHLH2   SPART   SPART-AS1   SPRYD7   STARD13   STARD13-AS   STOML3   SUCLA2   SUCLA2-AS1   SUGT1   SUPT20H   TDRD3   TEX26   TEX26-AS1   THSD1   TMEM272   TNFSF11   TPT1   TPT1-AS1   TRE-TTC1-2   TRE-TTC2-1   TRIM13   TRPC4   TSC22D1   TSC22D1-AS1   TUSC8   UFM1   UTP14C   VPS36   VWA8   VWA8-AS1   WBP4   WDFY2   ZAR1L   ZC3H13  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_30697728)_(69471973_?)del
Human AssemblyChrPosition (strand)Source
GRCh381330,697,728 - 69,471,973CLINVAR
GRCh371331,271,865 - 70,046,105CLINVAR
Build 361330,169,865 - 68,944,106CLINVAR
Cytogenetic Map1313q12.3-21.33CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8618392
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.