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Variant : CV73120 (GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3) Homo sapiens

Symbol: CV73120
Name: GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052294]|See cases [RCV000052294]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADSS1   AHNAK2   AK7   AKT1   AMN   ANKRD9   ASB2   ASPG   ATG2B   ATP5MPL   ATXN3   BAG5   BCL11B   BDKRB1   BDKRB2   BEGAIN   BRF1   BTBD6   BTBD7   C14orf132   C14orf177   C14orf180   CALM1   CATSPERB   CCDC197   CCDC85C   CCDC88C   CCNK   CDC42BPB   CDCA4   CEP170B   CHGA   CINP   CKB   CLBA1   CLMN   COA8   COX8C   CPSF2   CRIP1   CRIP2   CYP46A1   DDX24   DEGS2   DGLUCY   DICER1   DICER1-AS1   DIO3   DIO3OS   DLK1   DYNC1H1   EFCAB11   EIF5   EML1   EML5   EVL   EXOC3L4   FAM181A   FAM181A-AS1   FAM30A   FBLN5   FLRT2   FOXN3   FOXN3-AS1   FOXN3-AS2   GALC   GLRX5   GOLGA5   GON7   GPR132   GPR65   GPR68   GSC   GSC-DT   GSKIP   HHIPL1   HSP90AA1   IFI27   IFI27L1   IFI27L2   IGH   IGHA1   IGHA2   IGHD   IGHD1-1   IGHD1-14   IGHD1-20   IGHD1-26   IGHD1-7   IGHD2-15   IGHD2-2   IGHD2-21   IGHD2-8   IGHD3-10   IGHD3-16   IGHD3-22   IGHD3-3   IGHD3-9   IGHD4-11   IGHD4-17   IGHD4-23   IGHD4-4   IGHD5-12   IGHD5-18   IGHD5-24   IGHD5-5   IGHD6-13   IGHD6-19   IGHD6-25   IGHD6-6   IGHD7-27   IGHE   IGHG1   IGHG2   IGHG3   IGHG4   IGHJ1   IGHJ2   IGHJ3   IGHJ4   IGHJ5   IGHJ6   IGHM   IGHV1-18   IGHV1-2   IGHV1-24   IGHV1-3   IGHV1-45   IGHV1-46   IGHV1-58   IGHV1-69   IGHV1-69-2   IGHV1-69D   IGHV2-26   IGHV2-5   IGHV2-70   IGHV2-70D   IGHV3-11   IGHV3-13   IGHV3-15   IGHV3-16   IGHV3-20   IGHV3-21   IGHV3-23   IGHV3-30   IGHV3-33   IGHV3-35   IGHV3-38   IGHV3-43   IGHV3-48   IGHV3-49   IGHV3-53   IGHV3-64   IGHV3-64D   IGHV3-66   IGHV3-7   IGHV3-72   IGHV3-73   IGHV3-74   IGHV4-28   IGHV4-30-2   IGHV4-31   IGHV4-34   IGHV4-39   IGHV4-4   IGHV4-59   IGHV4-61   IGHV5-10-1   IGHV5-51   IGHV6-1   IGHV7-4-1   INF2   ITPK1   ITPK1-AS1   JAG2   KCNK10   KCNK13   KIF26A   KLC1   LBHD2   LGMN   LINC00221   LINC00226   LINC00239   LINC00523   LINC00524   LINC00605   LINC00618   LINC00637   LINC00638   LINC00642   LINC00677   LINC00911   LINC01146   LINC01147   LINC01148   LINC01550   LINC02280   LINC02285   LINC02287   LINC02291   LINC02292   LINC02295   LINC02296   LINC02298   LINC02299   LINC02304   LINC02305   LINC02309   LINC02312   LINC02314   LINC02316   LINC02317   LINC02318   LINC02320   LINC02321   LINC02323   LINC02325   LINC02328   LINC02329   LINC02330   LINC02691   LINC02833   MARK3   MEG3   MEG8   MEG9   MIR1185-1   MIR1185-2   MIR1193   MIR1197   MIR12121   MIR1247   MIR127   MIR134   MIR136   MIR151B   MIR154   MIR203A   MIR203B   MIR2392   MIR299   MIR300   MIR3173   MIR323A   MIR323B   MIR329-1   MIR329-2   MIR337   MIR342   MIR345   MIR369   MIR370   MIR376A1   MIR376A2   MIR376B   MIR376C   MIR377   MIR379   MIR380   MIR381   MIR381HG   MIR382   MIR409   MIR410   MIR411   MIR412   MIR4309   MIR431   MIR432   MIR433   MIR4506   MIR4507   MIR4537   MIR4538   MIR4539   MIR4710   MIR485   MIR487A   MIR487B   MIR493   MIR494   MIR495   MIR496   MIR5195   MIR539   MIR541   MIR543   MIR544A   MIR654   MIR655   MIR656   MIR665   MIR668   MIR6764   MIR6765   MIR758   MIR770   MIR8071-1   MIR8071-2   MIR889   MOAP1   MOK   MTA1   NDUFB1   NRDE2   NUDT14   OTUB2   PACS2   PAPOLA   PLD4   PPP1R13B   PPP2R5C   PPP4R3A   PPP4R4   PRIMA1   PSMC1   PTPN21   RCOR1   RD3L   RIN3   RPS6KA5   RTL1   SCARNA13   SERPINA1   SERPINA10   SERPINA11   SERPINA12   SERPINA2   SERPINA3   SERPINA4   SERPINA5   SERPINA6   SERPINA9   SETD3   SIVA1   SLC24A4   SLC25A29   SLC25A47   SNHG10   SNORA11B   SNORA28   SNORD112   SNORD113-1   SNORD113-2   SNORD113-3   SNORD113-4   SNORD113-5   SNORD113-6   SNORD113-7   SNORD113-8   SNORD113-9   SNORD114-1   SNORD114-10   SNORD114-11   SNORD114-12   SNORD114-13   SNORD114-14   SNORD114-15   SNORD114-16   SNORD114-17   SNORD114-18   SNORD114-19   SNORD114-2   SNORD114-20   SNORD114-21   SNORD114-22   SNORD114-23   SNORD114-24   SNORD114-25   SNORD114-26   SNORD114-27   SNORD114-28   SNORD114-29   SNORD114-3   SNORD114-30   SNORD114-31   SNORD114-4   SNORD114-5   SNORD114-6   SNORD114-7   SNORD114-8   SNORD114-9   SNORD3P3   SPATA7   SYNE3   TC2N   TCL1A   TCL1B   TCL6   TDP1   TDRD9   TECPR2   TEDC1   TEX22   TMEM121   TMEM179   TMEM251   TNFAIP2   TRA-AGC15-1   TRAF3   TRI-AAT5-4   TRIP11   TRMT61A   TTC7B   TTC8   TUNAR   UBR7   UNC79   VRK1   WARS1   WDR20   WDR25   XRCC3   YY1   ZBTB42   ZC3H14   ZFYVE21   ZNF839  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_83912345)_(106855405_?)dup
NC_000014.8:g.(?_84378689)_(107263620_?)dup
NC_000014.7:g.(?_83448442)_(106334665_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381483,912,345 - 106,855,405CLINVAR
GRCh371484,378,689 - 107,263,620CLINVAR
Build 361483,448,442 - 106,334,665CLINVAR
Cytogenetic Map1414q31.2-32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619287
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.