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Variant : CV625921 (GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3) Homo sapiens

Symbol: CV625921
Name: GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3
Condition: See cases [RCV000790568]
Clinical Significance: pathogenic
Last Evaluated: 07/20/2018
Review Status: criteria provided, single submitter
Related Genes: AAMP   ABCA12   ABCB6   ACADL   ACKR3   ACSL3   AGAP1   AGFG1   ALPG   ALPI   ALPP   ANKZF1   AP1S3   ARL4C   ARMC9   ARPC2   ASB1   ASB18   ASIC4   ATG16L1   ATG9A   ATIC   B3GNT7   BARD1   BCS1L   C2orf72   C2orf83   CAB39   CATIP   CCDC140   CCL20   CDK5R2   CFAP65   CHPF   CHRND   CHRNG   CNOT9   CNPPD1   COL4A3   COL4A4   COL6A3   COPS7B   COPS8   CPS1   CRYBA2   CTDSP1   CUL3   CXCR1   CXCR2   CYP27A1   DAW1   DES   DGKD   DIRC3   DIS3L2   DNAJB2   DNAJB3   DNER   DNPEP   DOCK10   ECEL1   EFHD1   EIF4E2   EPHA4   ERBB4   ERFE   ESPNL   FAM124B   FARSB   FBXO36   FEV   FN1   GBX2   GIGYF2   GLB1L   GMPPA   GPBAR1   GPR55   HES6   HJURP   HTR2B   IGFBP2   IGFBP5   IHH   IKZF2   ILKAP   INHA   IQCA1   IRS1   ITM2C   KANSL1L   KCNE4   KCNJ13   KLHL30   LANCL1   LRRFIP1   MARCHF4   MFF   MIR26B   MIR375   MLPH   MOGAT1   MREG   MROH2A   MRPL44   MYL1   NCL   NEU2   NGEF   NHEJ1   NMUR1   NPPC   NYAP2   OBSL1   PAX3   PDE6D   PECR   PER2   PID1   PLCD4   PNKD   PRKAG3   PRLH   PRSS56   PSMD1   PTMA   PTPRN   RAB17   RAMP1   RBM44   RESP18   RETREG2   RHBDD1   RNF25   RPE   RPL37A   RUFY4   SAG   SCG2   SCLY   SERPINE2   SGPP2   SH3BP4   SLC11A1   SLC16A14   SLC19A3   SLC23A3   SLC4A3   SMARCAL1   SNORC   SNORD20   SNORD82   SP100   SP110   SP140   SP140L   SPAG16   SPATA3   SPEG   SPHKAP   SPP2   STK11IP   STK16   STK36   TEX44   TIGD1   TM4SF20   TMBIM1   TMEM169   TMEM198   TNP1   TNS1   TRAF3IP1   TRIP12   TRPM8   TTLL4   TUBA4A   TWIST2   UBE2F   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   UNC80   USP37   USP40   VIL1   VWC2L   WDFY1   WNT10A   WNT6   XRCC5   ZFAND2B   ZNF142  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372210,779,657 - 239,879,183CLINVAR
Cytogenetic Map22q34-37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698322
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-02-04
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.