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Variant : CV74430 (GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3) Homo sapiens

Symbol: CV74430
Name: GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|See cases [RCV000053703]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACER2   ACO1   ADAMTSL1   AK3   ALDH1B1   ANKRD18A   ANKRD18B   APTX   AQP3   AQP7   ARHGEF39   ARID3C   B4GALT1   B4GALT1-AS1   BAG1   BNC2   BNC2-AS1   C9orf131   C9orf24   C9orf72   C9orf92   CA9   CAAP1   CCDC107   CCDC171   CCIN   CCL19   CCL21   CCL27   CD274   CD72   CDC37L1   CDC37L1-DT   CDKN2A   CDKN2A-DT   CDKN2B   CDKN2B-AS1   CER1   CHMP5   CLTA   CNTFR   CNTFR-AS1   CNTLN   CREB3   DCAF10   DCAF12   DCTN3   DDX58   DENND4C   DMAC1   DMRT1   DMRT2   DMRT3   DMRTA1   DNAI1   DNAJA1   DNAJB5   DNAJB5-DT   DOCK8   DOCK8-AS1   ELAVL2   ENHO   EQTN   ERMP1   ERVFRD-3   EXOSC3   FAM166B   FAM201A   FAM205A   FAM205C   FAM214B   FAM219A   FAM221B   FAM95C   FANCG   FBXO10   FOCAD   FOCAD-AS1   FREM1   FRMPD1   GALT   GBA2   GLDC   GLIPR2   GLIS3   GLIS3-AS1   GNE   GRHPR   HACD4   HAUS6   HINT2   HRCT1   IFNA1   IFNA10   IFNA13   IFNA14   IFNA16   IFNA17   IFNA2   IFNA21   IFNA4   IFNA5   IFNA6   IFNA7   IFNA8   IFNB1   IFNE   IFNK   IFNW1   IFT74   IFT74-AS1   IGFBPL1   IL11RA   IL33   INSL4   INSL6   IZUMO3   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   KIF24   KLHL9   LINC00032   LINC00583   LINC01230   LINC01231   LINC01235   LINC01239   LINC01241   LINC01242   LINC01243   LINC01251   LINC01627   LINC02851   LINGO2   LRRC19   LURAP1L   LURAP1L-AS1   MELK   MIR101-2   MIR12117   MIR31   MIR3152   MIR31HG   MIR4473   MIR4474   MIR4475   MIR4476   MIR4540   MIR4665   MIR4667   MIR491   MIR6851   MIR6852   MIR6853   MIR873   MIR876   MLANA   MLLT3   MOB3B   MPDZ   MSMP   MTAP   MYORG   NDUFB6   NFIB   NFX1   NOL6   NPR2   NUDT2   OR13J1   OR2S2   PAX5   PDCD1LG2   PHF24   PIGO   PLAA   PLGRKT   PLIN2   PLPP6   POLR1E   PRSS3   PSIP1   PTENP1-AS   PTPRD   PTPRD-AS1   PTPRD-AS2   PUM3   RANBP6   RCL1   RECK   RFX3   RFX3-AS1   RGP1   RIC1   RLN1   RLN2   RMRP   RNF38   RPP25L   RPS6   RRAGA   RUSC2   SAXO1   SCARNA8   SH3GL2   SHB   SIGMAR1   SIT1   SLC1A1   SLC24A2   SLC25A51   SMARCA2   SMIM27   SMU1   SNAPC3   SNORA30B   SNORD121A   SNORD121B   SNORD137   SPAAR   SPAG8   SPATA6L   SPINK4   STOML2   TAF1L   TEK   TESK1   TLN1   TMEM215   TMEM8B   TOMM5   TOPORS   TPD52L3   TPM2   TRH-GTG1-6   TRMT10B   TTC39B   TUSC1   TYRP1   UBAP1   UBAP2   UBE2R2   UBE2R2-AS1   UHRF2   UNC13B   VCP   VLDLR   VLDLR-AS1   ZBTB5   ZCCHC7   ZDHHC21  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_203993)_(38815619_?)dup
Human AssemblyChrPosition (strand)Source
GRCh389203,993 - 38,815,619CLINVAR
GRCh379203,993 - 38,815,616CLINVAR
Build 369193,993 - 38,805,616CLINVAR
Cytogenetic Map99p24.3-13.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8620621
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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