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Variant : CV158865 (GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3) Homo sapiens

Symbol: CV158865
Name: GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3
Condition: See cases [RCV000138172]
Clinical Significance: pathogenic
Last Evaluated: 02/14/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC004264.1   ADORA2A   ADORA2A-AS1   AL008638.2   AL021937.1   AP1B1   APOL2   APOL3   APOL4   APOL5   APOL6   ASCC2   ASPHD2   BCR   BPIFC   C22orf15   C22orf24   C22orf31   C22orf42   CABIN1   CABP7   CASTOR1   CCDC117   CCDC157   CHCHD10   CHEK2   CRYBA4   CRYBB1   CRYBB2   CRYBB3   DDT   DDTL   DEPDC5   DERL3   DRG1   DRICH1   DUSP18   EIF4ENIF1   EMID1   EWSR1   FAM230I   FBXO7   GAL3ST1   GAS2L1   GGT1   GGT5   GRK3   GSTT2   GSTT2B   GSTT4   GUCD1   HMGXB4   HMOX1   HORMAD2   HORMAD2-AS1   HPS4   HSCB   IGLL1   INPP5J   ISX   KIAA1671   KIAA1671-AS1   KREMEN1   LARGE-AS1   LARGE1   LIF   LIF-AS1   LIMK2   LINC01399   LINC01422   LINC01521   LINC01638   LINC01640   LINC01643   LINC01659   LINC02554   LINC02556   LINC02557   LINC02558   LINC02559   LINC02885   LOC284912   LRP5L   LRRC75B   MB   MCM5   MIAT   MIATNB   MIF   MIF-AS1   MIR3199-1   MIR3199-2   MIR3200   MIR3909   MIR3928   MIR4764   MIR548J   MIR5739   MIR6069   MIR6817   MIR6818   MIR7109   MMP11   MN1   MORC2   MORC2-AS1   MTFP1   MTMR3   MYO18B   MYO18B-AS1   NEFH   NF2   NIPSNAP1   OSBP2   OSM   PATZ1   PCAT14   PES1   PIK3IP1   PIK3IP1-DT   PISD   PITPNB   PIWIL3   PLA2G3   PRR14L   RASD2   RASL10A   RBFOX2   RFPL1   RFPL1S   RFPL2   RFPL3   RFPL3S   RGL4   RHBDD3   RNF185   RNF215   RTCB   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SELENOM   SEZ6L   SEZ6L-AS1   SF3A1   SFI1   SGSM1   SLC2A11   SLC35E4   SLC5A1   SLC5A4   SLC5A4-AS1   SMARCB1   SMTN   SNORA50B   SNORD125   SNRPD3   SPECC1L   SPECC1L-ADORA2A   SRRD   SUSD2   SYN3   SYN3-AS1   TBC1D10A   TCN2   TFIP11   THOC5   TIMP3   TMEM211   TOM1   TPST2   TTC28   TTC28-AS1   TUG1   UPB1   UQCR10   VPREB3   XBP1   YWHAH   ZMAT5   ZNF70   ZNRF3   ZNRF3-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_23279231)_(36247369_?)dup
NC_000022.10:g.(?_23621418)_(36643415_?)dup
NC_000022.9:g.(?_21951418)_(34973361_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382223,279,231 - 36,247,369CLINVAR
GRCh372223,621,418 - 36,643,415CLINVAR
Build 362221,951,418 - 34,973,361CLINVAR
Cytogenetic Map2222q11.23-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485721
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
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.