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Variant : CV73753 (GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3) Homo sapiens

Symbol: CV73753
Name: GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052958]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052958]|See cases [RCV000052958]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AAMP   ABCA12   ABCB6   ABI2   ACADL   ACKR3   ACSL3   ACSL3-AS1   ADAM23   AGAP1   AGAP1-IT1   AGFG1   AGXT   ALPG   ALPI   ALPP   ALS2   ANKAR   ANKMY1   ANKRD44   ANKRD44-AS1   ANKRD44-IT1   ANKZF1   ANO7   AOX1   AP1S3   AQP12A   AQP12B   ARL4C   ARMC9   ARPC2   ASB1   ASB18   ASDURF   ASIC4   ASIC4-AS1   ASNSD1   ATG16L1   ATG4B   ATG9A   ATIC   B3GNT7   BARD1   BCS1L   BMPR2   BOK   BOK-AS1   BOLL   BZW1   BZW1-AS1   C2CD6   C2orf66   C2orf69   C2orf72   C2orf80   C2orf83   C2orf88   CAB39   CAPN10   CAPN10-DT   CARF   CASP10   CASP8   CATIP   CATIP-AS1   CATIP-AS2   CAVIN2   CAVIN2-AS1   CCDC140   CCDC150   CCL20   CCNYL1   CD28   CDK15   CDK5R2   CFAP65   CFLAR   CFLAR-AS1   CHPF   CHRND   CHRNG   CLK1   CNOT9   CNPPD1   COL3A1   COL4A3   COL4A4   COL5A2   COL6A3   COPS7B   COPS8   COPS9   COQ10B   CPO   CPS1   CPS1-IT1   CREB1   CROCC2   CRYBA2   CRYGA   CRYGB   CRYGC   CRYGD   CT75   CTDSP1   CTLA4   CUL3   CXCR1   CXCR2   CYP20A1   CYP27A1   D2HGDH   DAW1   DES   DGKD   DIRC3   DIRC3-AS1   DIS3L2   DNAH7   DNAJB2   DNAJB3   DNER   DNPEP   DOCK10   DTYMK   DUSP28   DYTN   ECEL1   EEF1B2   EFHD1   EIF4E2   EPHA4   ERBB4   ERFE   ESPNL   FAM117B   FAM124B   FAM126B   FAM237A   FARP2   FARSB   FASTKD2   FBXO36   FEV   FLACC1   FN1   FTCDNL1   FZD5   FZD7   GAL3ST2   GBX2   GCSIR   GIGYF2   GLB1L   GLS   GMPPA   GPBAR1   GPC1   GPR1   GPR1-AS   GPR35   GPR55   GTF3C3   HDAC4   HDAC4-AS1   HDLBP   HECW2   HECW2-AS1   HES6   HIBCH   HJURP   HSPD1   HSPE1   HSPE1-MOB4   HTR2B   ICA1L   ICOS   IDH1   IDH1-AS1   IGFBP2   IGFBP5   IHH   IKZF2   ILKAP   ING5   INHA   INO80D   INPP1   INPP5D   IQCA1   IRS1   ITM2C   KANSL1L   KANSL1L-AS1   KCNE4   KCNJ13   KCTD18   KIAA2012   KIAA2012-AS1   KIF1A   KLF7   KLHL30   LANCL1   LANCL1-AS1   LINC00471   LINC00607   LINC00608   LINC01107   LINC01173   LINC01237   LINC01238   LINC01280   LINC01494   LINC01614   LINC01790   LINC01792   LINC01802   LINC01803   LINC01807   LINC01821   LINC01827   LINC01857   LINC01877   LINC01878   LINC01880   LINC01891   LINC01907   LINC01921   LINC01923   LINC01937   LINC01940   LINC01953   LINC01963   LINC02610   LINC02832   LOC285097   LRRFIP1   MAB21L4   MAIP1   MAP2   MARCHF4   MARS2   MDH1B   METTL21A   MFF   MFF-DT   MFSD6   MIR1244-1   MIR1245A   MIR1245B   MIR1302-4   MIR1471   MIR149   MIR153-1   MIR2355   MIR2467   MIR26B   MIR3129   MIR3130-1   MIR3130-2   MIR3131   MIR3132   MIR3133   MIR3606   MIR375   MIR4268   MIR4269   MIR4438   MIR4439   MIR4440   MIR4441   MIR4775   MIR4776-1   MIR4776-2   MIR4777   MIR4786   MIR5001   MIR548F2   MIR562   MIR5702   MIR5703   MIR6513   MIR6809   MIR6810   MIR6811   MIR7845   MIR9500   MLPH   MOB4   MOGAT1   MPP4   MREG   MROH2A   MRPL44   MSTN   MTERF4   MYL1   MYO1B   MYOSLID   MYOSLID-AS1   NAB1   NABP1   NBEAL1   NCL   NDUFA10   NDUFB3   NDUFS1   NEMP2   NEU2   NEU4   NGEF   NHEJ1   NIF3L1   NMUR1   NOP58   NPPC   NRP2   NYAP2   OBSL1   OR6B2   OR6B3   ORC2   ORMDL1   OSGEPL1   OSGEPL1-AS1   OTOS   PARD3B   PASK   PAX3   PCGEM1   PDCD1   PDE6D   PECR   PER2   PGAP1   PID1   PIKFYVE   PLCD4   PLCL1   PLEKHM3   PMS1   PNKD   PPIL3   PPP1R7   PRKAG3   PRLH   PRR21   PRSS56   PSMD1   PTH2R   PTMA   PTPRN   RAB17   RAMP1   RAPH1   RBM44   RESP18   RETREG2   RFTN2   RHBDD1   RNF25   RNPEPL1   RPE   RPL37A   RTP5   RUFY4   SAG   SATB2   SATB2-AS1   SCARNA5   SCARNA6   SCG2   SCLY   SEPTIN2   SERPINE2   SF3B1   SGO2   SGPP2   SH3BP4   SLC11A1   SLC16A14   SLC19A3   SLC23A3   SLC39A10   SLC40A1   SLC4A3   SMARCAL1   SNED1   SNHG31   SNORA105B   SNORA115   SNORA41   SNORA70I   SNORA75   SNORC   SNORD11   SNORD11B   SNORD20   SNORD51   SNORD70   SNORD70B   SNORD82   SP100   SP110   SP140   SP140L   SPAG16   SPAG16-DT   SPATA3   SPATA3-AS1   SPATS2L   SPEG   SPEGNB   SPHKAP   SPP2   STAT1   STAT4   STK11IP   STK16   STK17B   STK25   STK36   STRADB   SUMO1   TEX44   THAP4   TIGD1   TM4SF20   TMBIM1   TMEFF2   TMEM169   TMEM198   TMEM237   TNP1   TNRC17   TNS1   TRAF3IP1   TRAK2   TRIP12   TRPM8   TRY-ATA1-1   TTLL4   TUBA4A   TUBA4B   TWIST2   TYW5   UBE2F   UBE2F-SCLY   UGT1A   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   UNC80   USP37   USP40   VIL1   VWC2L   VWC2L-IT1   WDFY1   WDR12   WDR75   WNT10A   WNT6   XRCC5   ZDBF2   ZFAND2B   ZNF142  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_188818195)_(242065208_?)dup
NC_000002.11:g.(?_189682921)_(243007359_?)dup
NC_000002.10:g.(?_189391166)_(242656032_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382188,818,195 - 242,065,208CLINVAR
GRCh372189,682,921 - 243,007,359CLINVAR
Build 362189,391,166 - 242,656,032CLINVAR
Cytogenetic Map22q32.2-37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619927
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.