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Variant : CV71896 (GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1) Homo sapiens

Symbol: CV71896
Name: GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050980]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050980]|See cases [RCV000050980]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABI2   AGPS   ALS2   ANKAR   ANKRD44   ANKRD44-AS1   ANKRD44-IT1   AOX1   ASDURF   ASNSD1   ATF2   ATP5MC3   BMPR2   BOLL   BZW1   BZW1-AS1   C2CD6   C2orf66   C2orf69   C2orf88   CALCRL   CARF   CASP10   CASP8   CAVIN2   CAVIN2-AS1   CCDC141   CCDC150   CD28   CDK15   CERKL   CFLAR   CFLAR-AS1   CHN1   CHROMR   CLK1   COL3A1   COL5A2   COQ10B   CTLA4   CWC22   CYP20A1   DIRC1   DNAH7   DNAJC10   DUSP19   EVX2   FAM117B   FAM126B   FAM171B   FKBP7   FLACC1   FRZB   FSIP2   FSIP2-AS1   FSIP2-AS2   FTCDNL1   FZD7   GLS   GTF3C3   GULP1   HAGLR   HAGLROS   HECW2   HECW2-AS1   HIBCH   HNRNPA3   HOXD-AS2   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   HSPD1   HSPE1   HSPE1-MOB4   ICA1L   ICOS   INPP1   ITGA4   ITGAV   ITPRID2   KCTD18   KIAA2012   KIAA2012-AS1   LINC01090   LINC01116   LINC01117   LINC01473   LINC01790   LINC01792   LINC01821   LINC01827   LINC01877   LINC01923   LINC01934   LNPK   MAIP1   MARS2   MFSD6   MIR10B   MIR1245A   MIR1245B   MIR1246   MIR1258   MIR3128   MIR3129   MIR3606   MIR4437   MIR4444-1   MIR548AE1   MIR561   MIR6512   MIR7704   MIR933   MOB4   MPP4   MSTN   MTX2   MYO1B   NAB1   NABP1   NBEAL1   NCKAP1   NDUFB3   NEMP2   NEUROD1   NFE2L2   NIF3L1   NOP58   NUP35   ORC2   ORMDL1   OSBPL6   OSGEPL1   OSGEPL1-AS1   PCGEM1   PDE11A   PDE11A-AS1   PDE1A   PGAP1   PJVK   PLCL1   PLEKHA3   PMS1   PPIL3   PPP1R1C   PRKRA   RAPH1   RBM45   RFTN2   SATB2   SATB2-AS1   SCHLAP1   SESTD1   SF3B1   SGO2   SLC39A10   SLC40A1   SNORA105B   SNORD11   SNORD11B   SNORD70   SNORD70B   SPATS2L   STAT1   STAT4   STK17B   STRADB   SUMO1   TFPI   TMEFF2   TMEM237   TRAK2   TTC30A   TTC30B   TTN   TTN-AS1   TYW5   UBE2E3   WDR12   WDR75   ZC3H15   ZNF385B   ZNF804A   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_174898848)_(203941548_?)del
NC_000002.11:g.(?_175763576)_(204806271_?)del
NC_000002.10:g.(?_175471822)_(204514516_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382174,898,848 - 203,941,548CLINVAR
GRCh372175,763,576 - 204,806,271CLINVAR
Build 362175,471,822 - 204,514,516CLINVAR
Cytogenetic Map22q31.1-33.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618033
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.