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Variant : CV43389 (GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1) Homo sapiens

Symbol: CV43389
Name: GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050304]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050304]|See cases [RCV000050304]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ACKR3   AGAP1   AGAP1-IT1   AGXT   ALPG   ALPI   ALPP   ANKMY1   ANO7   AQP12A   AQP12B   ARL4C   ASB1   ASB18   ATG16L1   ATG4B   BOK   BOK-AS1   CAPN10   CAPN10-DT   CHRND   CHRNG   COL6A3   COPS7B   COPS8   COPS9   CROCC2   D2HGDH   DGKD   DIS3L2   DNAJB3   DTYMK   DUSP28   ECEL1   EFHD1   EIF4E2   ERFE   ESPNL   FARP2   GAL3ST2   GBX2   GIGYF2   GPC1   GPR35   HDAC4   HDAC4-AS1   HDLBP   HES6   HJURP   ILKAP   ING5   INPP5D   IQCA1   KCNJ13   KIF1A   KLHL30   LINC01107   LINC01173   LINC01237   LINC01238   LINC01880   LINC01881   LINC01891   LINC01937   LINC01940   LINC02610   LOC285097   LRRFIP1   MAB21L4   MIR1471   MIR149   MIR2467   MIR3133   MIR4269   MIR4440   MIR4441   MIR4786   MIR5001   MIR562   MIR6811   MLPH   MROH2A   MTERF4   NDUFA10   NEU2   NEU4   NGEF   NPPC   OR6B2   OR6B3   OTOS   PASK   PDCD1   PDE6D   PER2   PPP1R7   PRLH   PRR21   PRSS56   RAB17   RAMP1   RBM44   RNPEPL1   RTP5   SAG   SCARNA5   SCARNA6   SCLY   SEPTIN2   SH3BP4   SNED1   SNORC   SPP2   STK25   THAP4   TIGD1   TNRC17   TRAF3IP1   TRPM8   TWIST2   UBE2F   UBE2F-SCLY   UGT1A   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_231770279)_(242126245_?)del
Human AssemblyChrPosition (strand)Source
GRCh382231,770,279 - 242,126,245CLINVAR
GRCh372232,634,989 - 243,059,659 (+)CLINVAR
Build 362232,343,233 - 242,717,069CLINVAR
Cytogenetic Map22q37.1-37.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8617578
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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