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Variant : CV165369 (GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3) Homo sapiens

Symbol: CV165369
Name: GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3
Condition: See cases [RCV000143682]
Clinical Significance: pathogenic
Last Evaluated: 11/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCG5   ABCG8   ABHD1   ACP1   ADAM17   ADCY3   ADGRF3   ADI1   AGBL5   AGBL5-AS1   ALK   ALKAL2   ALLC   APOB   ARHGEF33   ASAP2   ASXL2   ATAD2B   ATL2   ATP6V1C2   ATRAID   BABAM2   BABAM2-AS1   BIRC6   BIRC6-AS2   C1GALT1C1L   C2orf16   C2orf50   C2orf91   CAD   CAMKMT   CAPN13   CAPN14   CCDC121   CDC42EP3   CDKL4   CEBPZ   CEBPZOS   CENPA   CENPO   CGREF1   CIB4   CLIP4   CMPK2   COLEC11   COX7A2L   CPSF3   CRIM1   CRIM1-DT   CYP1B1   CYP1B1-AS1   CYRIA   CYS1   DCDC2C   DDX1   DHX57   DNAJC27   DNAJC27-AS1   DNAJC5G   DNMT3A   DPY30   DPYSL5   DRC1   DTNB   DTNB-AS1   DYNC2LI1   E2F6   EFR3B   EHD3   EIF2AK2   EIF2B4   EIPR1   EMILIN1   EML4   EML4-AS1   FAM166C   FAM228A   FAM228B   FAM98A   FEZ2   FKBP1B   FLJ33534   FNDC4   FOSL2   GACAT3   GALM   GALNT14   GAREM2   GCKR   GDF7   GEMIN6   GEN1   GPATCH11   GPN1   GREB1   GRHL1   GTF3C2   GTF3C2-AS1   HAAO   HADHA   HADHB   HEATR5B   HNRNPLL   HPCAL1   HS1BP3   HS1BP3-IT1   IAH1   ID2   ID2-AS1   IFT172   ITGB1BP1   ITSN2   KCNF1   KCNG3   KCNK3   KCNS3   KHK   KIDINS220   KIF3C   KLF11   KLHL29   KRTCAP3   LAPTM4A   LAPTM4A-DT   LBH   LCLAT1   LDAH   LINC00211   LINC00276   LINC00298   LINC00299   LINC00486   LINC00487   LINC00570   LINC00954   LINC01115   LINC01121   LINC01126   LINC01246   LINC01247   LINC01248   LINC01249   LINC01250   LINC01304   LINC01317   LINC01318   LINC01320   LINC01376   LINC01381   LINC01460   LINC01794   LINC01804   LINC01808   LINC01810   LINC01814   LINC01819   LINC01822   LINC01830   LINC01833   LINC01865   LINC01871   LINC01874   LINC01875   LINC01883   LINC01884   LINC01913   LINC01914   LINC01936   LINC01939   LINC01946   LINC01954   LINC02580   LINC02613   LINC02850   LOC400940   LPIN1   LRATD1   LRPPRC   LTBP1   MAP4K3   MAP4K3-DT   MAPRE3   MAPRE3-AS1   MATN3   MBOAT2   MEMO1   MFSD2B   MIR1301   MIR3125   MIR3681   MIR3681HG   MIR4261   MIR4262   MIR4263   MIR4429   MIR4430   MIR4757   MIR4765   MIR548AD   MIR548S   MIR558   MIR7158   MIR7515   MIR7515HG   MORN2   MPV17   MRPL33   MSGN1   MTA3   MYCN   MYCNOS   MYCNUT   MYT1L   MYT1L-AS1   NBAS   NCOA1   NDUFAF7   NLRC4   NOL10   NRBP1   NRIR   NT5C1B   NT5C1B-RDH14   NTSR2   ODC1   ODC1-DT   OSR1   OST4   OTOF   OXER1   PCARE   PDIA6   PFN4   PKDCC   PLB1   PLEKHH2   POMC   PPM1B   PPM1G   PPP1CB   PREB   PREPL   PRKCE   PRKCE-AS1   PRKD3   PRR30   PTRHD1   PUM2   PXDN   QPCT   RAB10   RAD51AP2   RASGRP3   RBKS   RDH14   RHOB   RMDN2   RMDN2-AS1   RNASEH1   RNASEH1-AS1   RNF144A   RNF144A-AS1   ROCK2   RPS7   RRM2   RSAD2   SDC1   SELENOI   SF3B6   SH3YL1   SILC1   SIX2   SIX3   SIX3-AS1   SLC30A3   SLC30A6   SLC35F6   SLC3A1   SLC4A1AP   SLC5A6   SLC66A3   SLC8A1   SLC8A1-AS1   SMC6   SNORA10B   SNORA80B   SNORD53   SNORD53B   SNORD92   SNTG2   SNTG2-AS1   SNX17   SOS1   SOS1-IT1   SOX11   SPAST   SPDYA   SRBD1   SRD5A2   SRSF7   STRN   SULT6B1   SUPT7L   TAF1B   TCF23   TDRD15   THADA   THUMPD2   TMEM178A   TMEM18   TMEM18-DT   TMEM214   TOGARAM2   TP53I3   TPO   TRA-AGC8-1   TRAPPC12   TRI-TAT2-1   TRIB2   TRIM54   TRMT61B   TRY-GTA2-1   TTC27   TTC32   UBXN2A   UCN   VIT   VSNL1   WDCP   WDR35   WDR43   XDH   YIPF4   YPEL5   YWHAQ   ZFP36L2   ZNF512   ZNF513  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_236816)_(45983232_?)dup
NC_000002.11:g.(?_236816)_(46210371_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,816 - 45,983,232CLINVAR
GRCh372236,816 - 46,210,371CLINVAR
Build 362226,816 - 46,063,875CLINVAR
Cytogenetic Map22p25.3-21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491280
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.