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Variant : CV384254 (GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3) Homo sapiens

Symbol: CV384254
Name: GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3
Condition: See cases [RCV000448557]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCD4   ACOT1   ACOT2   ACOT4   ACOT6   ACTN1   ACYP1   ADAM20   ADAM21   ADCK1   ADSS1   AHNAK2   AHSA1   AK7   AKAP5   AKT1   ALDH6A1   ALKBH1   AMN   ANGEL1   ANKRD9   AREL1   ARG2   ASB2   ASPG   ATG2B   ATP5MPL   ATP6V1D   ATXN3   BAG5   BATF   BBOF1   BCL11B   BDKRB1   BDKRB2   BEGAIN   BRF1   BTBD6   BTBD7   C14orf132   C14orf177   C14orf178   C14orf180   CALM1   CATSPERB   CCDC177   CCDC85C   CCDC88C   CCNK   CDC42BPB   CDCA4   CEP128   CEP170B   CHGA   CHURC1   CHURC1-FNTB   CINP   CIPC   CKB   CLBA1   CLMN   COA8   COQ6   COX16   COX8C   CPSF2   CRIP1   CRIP2   CYP46A1   DCAF4   DCAF5   DDX24   DEGS2   DGLUCY   DICER1   DIO2   DIO3   DIO3OS   DLK1   DLST   DNAL1   DPF3   DYNC1H1   EFCAB11   EIF2B2   EIF2S1   EIF5   EML1   EML5   ENTPD5   ERG28   ERH   ESR2   ESRRB   EVL   EXD2   EXOC3L4   FAM161B   FAM181A   FAM71D   FBLN5   FCF1   FLRT2   FLVCR2   FNTB   FOS   FOXN3   FUT8   GALC   GALNT16   GLRX5   GOLGA5   GON7   GPATCH2L   GPHB5   GPHN   GPR132   GPR65   GPR68   GPX2   GSC   GSKIP   GSTZ1   GTF2A1   HEATR4   HHIPL1   HSP90AA1   HSPA2   IFI27   IFI27L1   IFI27L2   IFT43   IGH   IGHA1   IGHA2   IGHD   IGHD3-3   IGHE   IGHG1   IGHG2   IGHG3   IGHG4   IGHM   IGHV3-23   INF2   IRF2BPL   ISCA2   ISM2   ITPK1   JAG2   JDP2   KCNH5   KCNK10   KCNK13   KIF26A   KLC1   LGMN   LIN52   LRRC74A   LTBP2   MAP3K9   MARK3   MAX   MED6   MEG3   MEG8   MIDEAS   MIR127   MIR134   MIR136   MIR203A   MIR369   MIR370   MIR376A1   MIR376A2   MIR376B   MIR376C   MIR380   MIR409   MIR410   MIR431   MIR433   MIR487B   MIR495   MLH3   MOAP1   MOK   MPP5   MTA1   MTHFD1   NDUFB1   NEK9   NGB   NOXRED1   NPC2   NRDE2   NUDT14   NUMB   OTUB2   PACS2   PAPLN   PAPOLA   PCNX1   PGF   PIGH   PLD4   PLEK2   PLEKHD1   PLEKHG3   PLEKHH1   PNMA1   POMT2   PPP1R13B   PPP1R36   PPP2R5C   PPP2R5E   PPP4R3A   PPP4R4   PRIMA1   PROX2   PSEN1   PSMC1   PTGR2   PTPN21   RAB15   RAD51B   RBM25   RCOR1   RD3L   RDH11   RDH12   RGS6   RHOJ   RIN3   RIOX1   RPS6KA5   RPS6KL1   RTL1   SAMD15   SEL1L   SERPINA1   SERPINA10   SERPINA11   SERPINA12   SERPINA2   SERPINA3   SERPINA4   SERPINA5   SERPINA6   SERPINA9   SETD3   SGPP1   SIPA1L1   SIVA1   SLC10A1   SLC24A4   SLC25A29   SLC25A47   SLC39A9   SLC8A3   SLIRP   SMOC1   SNHG10   SNORD112   SNORD113-1   SNORD114-1   SNW1   SPATA7   SPTB   SPTLC2   SRSF5   STON2   SUSD6   SYNDIG1L   SYNE2   SYNE3   SYNJ2BP   SYT16   TC2N   TCL1A   TCL1B   TCL6   TDP1   TDRD9   TECPR2   TEDC1   TEX22   TGFB3   TMED10   TMED8   TMEM121   TMEM179   TMEM229B   TMEM251   TMEM63C   TNFAIP2   TRAF3   TRIP11   TRMT61A   TSHR   TTC7B   TTC8   TTC9   TTLL5   UBR7   UNC79   VASH1   VIPAS39   VRK1   VRTN   VSX2   VTI1B   WARS1   WDR20   WDR25   WDR89   XRCC3   YLPM1   YY1   ZBTB1   ZBTB25   ZBTB42   ZC2HC1C   ZC3H14   ZDHHC22   ZFP36L1   ZFYVE1   ZFYVE21   ZFYVE26   ZNF410   ZNF839  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371462,493,932 - 107,285,437CLINVAR
Cytogenetic Map1414q23.2-32.33CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853263
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
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.