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Variant : CV382363 (GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3) Homo sapiens

Symbol: CV382363
Name: GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3
Condition: See cases [RCV000446256]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCD4   ABHD12B   ABHD4   ACIN1   ACOT1   ACOT2   ACOT4   ACOT6   ACTN1   ACTR10   ACYP1   ADAM20   ADAM21   ADCK1   ADCY4   ADSS1   AHNAK2   AHSA1   AJUBA   AK7   AKAP5   AKAP6   AKT1   ALDH6A1   ALKBH1   AMN   ANG   ANGEL1   ANKRD9   AP1G2   AP4S1   AP5M1   APEX1   AREL1   ARF6   ARG2   ARHGAP5   ARHGEF40   ARID4A   ARMH4   ASB2   ASPG   ATG14   ATG2B   ATL1   ATP5MPL   ATP6V1D   ATXN3   BAG5   BATF   BAZ1A   BBOF1   BCL11B   BCL2L2   BCL2L2-PABPN1   BDKRB1   BDKRB2   BEGAIN   BMP4   BRF1   BRMS1L   BTBD6   BTBD7   C14orf119   C14orf132   C14orf177   C14orf178   C14orf180   C14orf28   C14orf39   C14orf93   CALM1   CARMIL3   CATSPERB   CBLN3   CCDC175   CCDC177   CCDC198   CCDC85C   CCDC88C   CCNB1IP1   CCNK   CDC42BPB   CDCA4   CDH24   CDKL1   CDKN3   CEBPE   CEP128   CEP170B   CFL2   CGRRF1   CHD8   CHGA   CHMP4A   CHURC1   CHURC1-FNTB   CIDEB   CINP   CIPC   CKB   CLBA1   CLEC14A   CLMN   CMA1   CMTM5   CNIH1   COA8   COCH   COQ6   COX16   COX8C   CPNE6   CPSF2   CRIP1   CRIP2   CTSG   CYP46A1   DAAM1   DACT1   DAD1   DCAF11   DCAF4   DCAF5   DDHD1   DDX24   DEGS2   DGLUCY   DHRS1   DHRS2   DHRS4   DHRS4L1   DHRS4L2   DHRS7   DICER1   DIO2   DIO3   DIO3OS   DLGAP5   DLK1   DLST   DMAC2L   DNAAF2   DNAL1   DPF3   DTD2   DYNC1H1   EAPP   EDDM3A   EDDM3B   EFCAB11   EFS   EGLN3   EIF2B2   EIF2S1   EIF5   EMC9   EML1   EML5   ENTPD5   ERG28   ERH   ERO1A   ESR2   ESRRB   EVL   EXD2   EXOC3L4   EXOC5   FAM161B   FAM177A1   FAM181A   FAM71D   FANCM   FBLN5   FBXO33   FBXO34   FCF1   FERMT2   FITM1   FKBP3   FLRT2   FLVCR2   FNTB   FOS   FOXA1   FOXG1   FOXN3   FRMD6   FSCB   FUT8   G2E3   GALC   GALNT16   GCH1   GEMIN2   GLRX5   GMFB   GMPR2   GNG2   GNPNAT1   GOLGA5   GON7   GPATCH2L   GPHB5   GPHN   GPR132   GPR135   GPR137C   GPR33   GPR65   GPR68   GPX2   GSC   GSKIP   GSTZ1   GTF2A1   GZMB   GZMH   HAUS4   HEATR4   HEATR5A   HECTD1   HHIPL1   HIF1A   HIF1A-AS2   HNRNPC   HOMEZ   HSP90AA1   HSPA2   IFI27   IFI27L1   IFI27L2   IFT43   IGH   IGHA1   IGHA2   IGHD   IGHD3-3   IGHE   IGHG1   IGHG2   IGHG3   IGHG4   IGHM   IGHV3-23   IL25   INF2   INSM2   IPO4   IRF2BPL   IRF9   ISCA2   ISM2   ITPK1   JAG2   JDP2   JKAMP   JPH4   KCNH5   KCNK10   KCNK13   KHNYN   KIAA0586   KIF26A   KLC1   KLHDC1   KLHDC2   KLHL28   KLHL33   KTN1   L2HGDH   L3HYPDH   LGALS3   LGMN   LIN52   LINC00596   LINC01588   LINC01599   LRFN5   LRP10   LRR1   LRRC74A   LTB4R   LTB4R2   LTBP2   MAP3K9   MAP4K5   MAPK1IP1L   MARK3   MAX   MBIP   MDGA2   MDP1   MED6   MEG3   MEG8   METTL17   METTL3   MGAT2   MIDEAS   MIPOL1   MIR127   MIR134   MIR136   MIR203A   MIR208A   MIR208B   MIR369   MIR370   MIR376A1   MIR376A2   MIR376B   MIR376C   MIR380   MIR409   MIR410   MIR431   MIR433   MIR487B   MIR495   MIS18BP1   MLH3   MMP14   MNAT1   MOAP1   MOK   MPP5   MRPL52   MTA1   MTHFD1   MYH6   MYH7   NAA30   NDRG2   NDUFB1   NEDD8   NEDD8-MDP1   NEK9   NEMF   NFATC4   NFKBIA   NGB   NGDN   NID2   NIN   NKX2-1   NKX2-8   NOP9   NOVA1   NOXRED1   NPAS3   NPC2   NRDE2   NRL   NUBPL   NUDT14   NUMB   NYNRIN   OR10G2   OR10G3   OR11G2   OR11H2   OR11H4   OR11H6   OR4E2   OR4K1   OR4K13   OR4K14   OR4K15   OR4K17   OR4K2   OR4K5   OR4L1   OR4M1   OR4N2   OR4N5   OR4Q3   OR5AU1   OR6S1   OSGEP   OTUB2   OTX2   OXA1L   PABPN1   PACS2   PAPLN   PAPOLA   PARP2   PAX9   PCK2   PCNX1   PCNX4   PELI2   PGF   PIGH   PIP4P1   PLD4   PLEK2   PLEKHD1   PLEKHG3   PLEKHH1   PNMA1   PNN   PNP   POLE2   POMT2   POTEM   PPM1A   PPP1R13B   PPP1R36   PPP1R3E   PPP2R3C   PPP2R5C   PPP2R5E   PPP4R3A   PPP4R4   PRIMA1   PRKCH   PRKD1   PRMT5   PRORP   PROX2   PRPF39   PSEN1   PSMA3   PSMA6   PSMB11   PSMB5   PSMC1   PSMC6   PSME1   PSME2   PTCSC3   PTGDR   PTGER2   PTGR2   PTPN21   PYGL   RAB15   RAB2B   RABGGTA   RAD51B   RALGAPA1   RBM23   RBM25   RCOR1   RD3L   RDH11   RDH12   REC8   REM2   RGS6   RHOJ   RIN3   RIOX1   RIPK3   RN7SL1   RN7SL2   RN7SL3   RNASE1   RNASE10   RNASE11   RNASE12   RNASE13   RNASE2   RNASE3   RNASE4   RNASE6   RNASE7   RNASE8   RNASE9   RNF212B   RNF31   RPGRIP1   RPL10L   RPL36AL   RPPH1   RPS29   RPS6KA5   RPS6KL1   RTL1   RTN1   RTRAF   SALL2   SAMD15   SAMD4A   SAV1   SCFD1   SDR39U1   SEC23A   SEL1L   SERPINA1   SERPINA10   SERPINA11   SERPINA12   SERPINA2   SERPINA3   SERPINA4   SERPINA5   SERPINA6   SERPINA9   SETD3   SFTA3   SGPP1   SIPA1L1   SIVA1   SIX1   SIX4   SIX6   SLC10A1   SLC22A17   SLC24A4   SLC25A21   SLC25A29   SLC25A47   SLC35F4   SLC38A6   SLC39A2   SLC39A9   SLC7A7   SLC7A8   SLC8A3   SLIRP   SMOC1   SNAPC1   SNHG10   SNORD112   SNORD113-1   SNORD114-1   SNW1   SNX6   SOCS4   SOS2   SPATA7   SPTB   SPTLC2   SPTSSA   SRP54   SRSF5   SSTR1   STON2   STRN3   STXBP6   STYX   SUPT16H   SUSD6   SYNDIG1L   SYNE2   SYNE3   SYNJ2BP   SYT16   TBPL2   TC2N   TCL1A   TCL1B   TCL6   TDP1   TDRD9   TECPR2   TEDC1   TEP1   TEX22   TGFB3   TGM1   THTPA   TIMM9   TINF2   TM9SF1   TMED10   TMED8   TMEM121   TMEM179   TMEM229B   TMEM251   TMEM253   TMEM260   TMEM30B   TMEM63C   TMX1   TNFAIP2   TOGARAM1   TOMM20L   TOX4   TPPP2   TRA   TRAF3   TRAPPC6B   TRIM9   TRIP11   TRL-AAG2-3   TRMT5   TRMT61A   TRP-AGG2-5   TRP-AGG2-6   TRT-TGT3-1   TSHR   TSSK4   TTC5   TTC6   TTC7B   TTC8   TTC9   TTLL5   TXNDC16   UBR7   UNC79   VASH1   VCPKMT   VIPAS39   VRK1   VRTN   VSX2   VTI1B   WARS1   WDHD1   WDR20   WDR25   WDR89   XRCC3   YLPM1   YY1   ZBTB1   ZBTB25   ZBTB42   ZC2HC1C   ZC3H14   ZDHHC22   ZFHX2   ZFP36L1   ZFYVE1   ZFYVE21   ZFYVE26   ZNF219   ZNF410   ZNF839  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371419,794,561 - 107,234,280CLINVAR
Cytogenetic Map1414q11.2-32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12850982
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.