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Variant : CV164903 (GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3) Homo sapiens

Symbol: CV164903
Name: GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3
Condition: See cases [RCV000143216]
Clinical Significance: pathogenic
Last Evaluated: 02/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AAMP   ABCB6   ACKR3   ACSL3   ACSL3-AS1   AGAP1   AGAP1-IT1   AGFG1   AGXT   ALPG   ALPI   ALPP   ANKMY1   ANKZF1   ANO7   AP1S3   AQP12A   AQP12B   ARL4C   ARMC9   ARPC2   ASB1   ASB18   ASIC4   ASIC4-AS1   ATG16L1   ATG4B   ATG9A   B3GNT7   BCS1L   BOK   BOK-AS1   C2orf72   C2orf83   CAB39   CAPN10   CAPN10-DT   CATIP   CATIP-AS1   CATIP-AS2   CCDC140   CCL20   CDK5R2   CFAP65   CHPF   CHRND   CHRNG   CNOT9   CNPPD1   COL4A3   COL4A4   COL6A3   COPS7B   COPS8   COPS9   CROCC2   CRYBA2   CT75   CTDSP1   CUL3   CXCR1   CXCR2   CYP27A1   D2HGDH   DAW1   DES   DGKD   DIS3L2   DNAJB2   DNAJB3   DNER   DNPEP   DOCK10   DTYMK   DUSP28   ECEL1   EFHD1   EIF4E2   EPHA4   ERFE   ESPNL   FAM124B   FARP2   FARSB   FBXO36   FEV   GAL3ST2   GBX2   GCSIR   GIGYF2   GLB1L   GMPPA   GPBAR1   GPC1   GPR35   GPR55   HDAC4   HDAC4-AS1   HDLBP   HES6   HJURP   HTR2B   IHH   ILKAP   ING5   INHA   INPP5D   IQCA1   IRS1   ITM2C   KCNE4   KCNJ13   KIF1A   KLHL30   LINC00471   LINC00608   LINC01107   LINC01173   LINC01237   LINC01238   LINC01494   LINC01803   LINC01807   LINC01880   LINC01881   LINC01891   LINC01907   LINC01937   LINC01940   LINC02610   LINC02832   LOC285097   LRRFIP1   MAB21L4   MFF   MFF-DT   MIR1244-1   MIR1471   MIR149   MIR153-1   MIR2467   MIR26B   MIR3131   MIR3132   MIR3133   MIR375   MIR4268   MIR4269   MIR4439   MIR4440   MIR4441   MIR4777   MIR4786   MIR5001   MIR562   MIR5702   MIR5703   MIR6513   MIR6810   MIR6811   MIR9500   MLPH   MOGAT1   MROH2A   MRPL44   MTERF4   NCL   NDUFA10   NEU2   NEU4   NGEF   NHEJ1   NMUR1   NPPC   NYAP2   OBSL1   OR6B2   OR6B3   OTOS   PASK   PAX3   PDCD1   PDE6D   PER2   PID1   PLCD4   PNKD   PPP1R7   PRKAG3   PRLH   PRR21   PRSS56   PSMD1   PTMA   PTPRN   RAB17   RAMP1   RBM44   RESP18   RETREG2   RHBDD1   RNF25   RNPEPL1   RTP5   SAG   SCARNA5   SCARNA6   SCG2   SCLY   SEPTIN2   SERPINE2   SGPP2   SH3BP4   SLC11A1   SLC16A14   SLC19A3   SLC23A3   SLC4A3   SNED1   SNORA75   SNORC   SNORD20   SNORD82   SP100   SP110   SP140   SP140L   SPATA3   SPATA3-AS1   SPEG   SPEGNB   SPHKAP   SPP2   STK11IP   STK16   STK25   STK36   TEX44   THAP4   TIGD1   TM4SF20   TMBIM1   TMEM198   TNRC17   TRAF3IP1   TRIP12   TRPM8   TRY-ATA1-1   TTLL4   TUBA4A   TUBA4B   TWIST2   UBE2F   UBE2F-SCLY   UGT1A   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP37   USP40   VIL1   WDFY1   WNT10A   WNT6   ZFAND2B   ZNF142  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_218101759)_(242126245_?)dup
NC_000002.11:g.(?_218966482)_(243059659_?)dup
NC_000002.10:g.(?_218674727)_(242717069_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382218,101,759 - 242,126,245CLINVAR
GRCh372218,966,482 - 243,059,659 (+)CLINVAR
Build 362218,674,727 - 242,717,069CLINVAR
Cytogenetic Map22q35-37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490814
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.