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Variant : CV73767 (GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3) Homo sapiens

Symbol: CV73767
Name: GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACKR3   AGAP1   AGAP1-IT1   AGFG1   AGXT   ALPG   ALPI   ALPP   ANKMY1   ANO7   AQP12A   AQP12B   ARL4C   ARMC9   ASB1   ASB18   ATG16L1   ATG4B   B3GNT7   BOK   BOK-AS1   C2orf72   C2orf83   CAB39   CAPN10   CAPN10-DT   CCL20   CHRND   CHRNG   COL4A3   COL4A4   COL6A3   COPS7B   COPS8   COPS9   CROCC2   CUL3   D2HGDH   DAW1   DGKD   DIS3L2   DNAJB3   DNER   DOCK10   DTYMK   DUSP28   ECEL1   EFHD1   EIF4E2   ERFE   ESPNL   FAM124B   FARP2   FBXO36   GAL3ST2   GBX2   GIGYF2   GPC1   GPR35   GPR55   HDAC4   HDLBP   HES6   HJURP   HTR2B   ILKAP   ING5   INPP5D   IQCA1   IRS1   ITM2C   KCNJ13   KIF1A   KLHL30   LINC00471   LINC01107   LINC01173   LINC01237   LINC01238   LINC01807   LINC01880   LINC01881   LINC01891   LINC01907   LINC01937   LINC01940   LOC285097   LRRFIP1   MAB21L4   MFF   MIR1244-1   MIR1471   MIR149   MIR2467   MIR3133   MIR4269   MIR4439   MIR4440   MIR4441   MIR4777   MIR4786   MIR5001   MIR562   MIR5702   MIR5703   MIR6811   MLPH   MROH2A   MTERF4   NCL   NDUFA10   NEU2   NEU4   NGEF   NMUR1   NPPC   NYAP2   OR6B2   OR6B3   OTOS   PASK   PDCD1   PDE6D   PER2   PID1   PPP1R7   PRLH   PRR21   PRSS56   PSMD1   PTMA   RAB17   RAMP1   RBM44   RHBDD1   RNPEPL1   RTP5   SAG   SCARNA5   SCARNA6   SCLY   SEPTIN2   SERPINE2   SH3BP4   SLC16A14   SLC19A3   SNED1   SNORA75   SNORC   SNORD20   SNORD82   SP100   SP110   SP140   SP140L   SPATA3   SPATA3-AS1   SPHKAP   SPP2   STK25   TEX44   THAP4   TIGD1   TM4SF20   TRAF3IP1   TRIP12   TRPM8   TWIST2   UBE2F   UBE2F-SCLY   UGT1A   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_223992431)_(242126245_?)dup
NC_000002.11:g.(?_224857148)_(243059659_?)dup
NC_000002.10:g.(?_224565392)_(242717069_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382223,992,431 - 242,126,245CLINVAR
GRCh372224,857,148 - 243,059,659CLINVAR
Build 362224,565,392 - 242,717,069CLINVAR
Cytogenetic Map22q36.1-37.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619941
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.