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Variant : CV74530 (GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3) Homo sapiens

Symbol: CV74530
Name: GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD4   ACIN1   ADCY4   AJUBA   AKAP6   ANG   AP1G2   AP4S1   APEX1   ARHGAP5   ARHGAP5-AS1   ARHGEF40   BAZ1A   BCL2L2   BCL2L2-PABPN1   BRMS1L   C14orf119   C14orf93   CARMIL3   CBLN3   CCNB1IP1   CDH24   CEBPE   CFL2   CHD8   CHMP4A   CIDEB   CLEC14A   CMA1   CMTM5   COCH   CPNE6   CTSG   DAD1   DCAF11   DHRS1   DHRS2   DHRS4   DHRS4-AS1   DHRS4L1   DHRS4L2   DTD2   EAPP   EDDM3A   EDDM3B   EFS   EGLN3   EGLN3-AS1   EMC9   FAM177A1   FBXO33   FITM1   FOXA1   FOXG1   FOXG1-AS1   G2E3   G2E3-AS1   GEMIN2   GMPR2   GPR33   GZMB   GZMH   HAUS4   HEATR5A   HECTD1   HNRNPC   HOMEZ   IL25   INSM2   IPO4   IRF9   JPH4   KHNYN   KLHL33   LINC00517   LINC00596   LINC00609   LINC00639   LINC00641   LINC00645   LINC01551   LINC02281   LINC02282   LINC02286   LINC02293   LINC02294   LINC02300   LINC02313   LINC02326   LINC02327   LINC02332   LINC02588   LMLN2   LRP10   LTB4R   LTB4R2   MBIP   MDP1   METTL17   METTL3   MHRT   MIA2   MIPOL1   MIR208A   MIR208B   MIR3171   MIR4307   MIR4307HG   MIR4503   MIR4707   MIR624   MIR6717   MIR7703   MMP14   MRPL52   MYH6   MYH7   NDRG2   NEDD8   NEDD8-MDP1   NFATC4   NFKBIA   NGDN   NKX2-1   NKX2-1-AS1   NKX2-8   NOP9   NOVA1   NPAS3   NRL   NUBPL   NYNRIN   OR10G2   OR10G3   OR11G2   OR11H4   OR11H6   OR11H7   OR4E1   OR4E2   OR5AU1   OR6J1   OR6S1   OSGEP   OXA1L   PABPN1   PARP2   PAX9   PCK2   PIP4P1   PNN   PNP   PPP1R3E   PPP2R3C   PRKD1   PRMT5   PRMT5-AS1   PRORP   PSMA6   PSMB11   PSMB5   PSME1   PSME2   PTCSC3   RAB2B   RABGGTA   RALGAPA1   RBM23   REC8   REM2   RIPK3   RNASE1   RNASE10   RNASE11   RNASE12   RNASE13   RNASE2   RNASE3   RNASE4   RNASE6   RNASE7   RNASE8   RNASE9   RNF212B   RNF31   RNU1-27P   RNU1-28P   RNU6-7   RNU6-8   RPGRIP1   RPPH1   SALL2   SCFD1   SDR39U1   SEC23A   SEC23A-AS1   SFTA3   SLC22A17   SLC25A21   SLC25A21-AS1   SLC39A2   SLC7A7   SLC7A8   SNORA101B   SNORA89   SNORD126   SNORD8   SNORD9   SNX6   SPTSSA   SRP54   SSTR1   STRN3   STXBP6   SUPT16H   TEP1   TGM1   THTPA   TINF2   TM9SF1   TMEM253   TOX4   TPPP2   TRA   TRAC   TRAJ1   TRAJ10   TRAJ11   TRAJ12   TRAJ13   TRAJ14   TRAJ15   TRAJ16   TRAJ17   TRAJ18   TRAJ19   TRAJ2   TRAJ20   TRAJ21   TRAJ22   TRAJ23   TRAJ24   TRAJ25   TRAJ26   TRAJ27   TRAJ28   TRAJ29   TRAJ3   TRAJ30   TRAJ31   TRAJ32   TRAJ33   TRAJ34   TRAJ35   TRAJ36   TRAJ37   TRAJ38   TRAJ39   TRAJ4   TRAJ40   TRAJ41   TRAJ42   TRAJ43   TRAJ44   TRAJ45   TRAJ46   TRAJ47   TRAJ48   TRAJ49   TRAJ5   TRAJ50   TRAJ52   TRAJ53   TRAJ54   TRAJ56   TRAJ57   TRAJ58   TRAJ59   TRAJ6   TRAJ61   TRAJ7   TRAJ8   TRAJ9   TRAPPC6B   TRAV1-1   TRAV1-2   TRAV10   TRAV12-1   TRAV12-2   TRAV12-3   TRAV13-1   TRAV13-2   TRAV14DV4   TRAV16   TRAV17   TRAV18   TRAV19   TRAV2   TRAV20   TRAV21   TRAV22   TRAV23DV6   TRAV24   TRAV25   TRAV26-1   TRAV26-2   TRAV27   TRAV29DV5   TRAV3   TRAV30   TRAV34   TRAV35   TRAV36DV7   TRAV38-1   TRAV38-2DV8   TRAV39   TRAV4   TRAV40   TRAV41   TRAV5   TRAV6   TRAV7   TRAV8-1   TRAV8-2   TRAV8-3   TRAV8-4   TRAV8-6   TRAV8-7   TRAV9-1   TRAV9-2   TRD   TRDC   TRDD1   TRDD2   TRDD3   TRDJ1   TRDJ2   TRDJ3   TRDJ4   TRDV1   TRDV2   TRDV3   TRL-AAG2-3   TRL-TAG2-1   TRP-AGG2-5   TRP-AGG2-6   TRP-TGG1-1   TRP-TGG3-2   TRR-ACG1-3   TRT-TGT3-1   TRT-TGT4-1   TRT-TGT5-1   TRY-GTA4-1   TRY-GTA5-3   TRY-GTA5-4   TRY-GTA5-5   TRY-GTA7-1   TSSK4   TTC5   TTC6   ZFHX2   ZNF219  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_20150949)_(39746154_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381420,150,949 - 39,746,154CLINVAR
GRCh371420,619,108 - 40,215,358CLINVAR
Build 361419,688,948 - 39,285,109CLINVAR
Cytogenetic Map1414q11.2-21.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability

Additional Information

CRRD Object Information
CRRD ID: 8620721
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


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