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Variant : CV74592 (GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1) Homo sapiens

Symbol: CV74592
Name: GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADNP2   ALPK2   ATP8B1   ATP9B   BCL2   BOD1L2   C18orf54   C18orf63   CBLN2   CCBE1   CCDC102B   CCDC68   CD226   CDH19   CDH20   CDH7   CNDP1   CNDP2   CPLX4   CTDP1   CYB5A   DIPK1C   DOK6   DSEL   DYNAP   FBXO15   FECH   GALR1   GRP   GTSCR1   HMSD   HSBP1L1   KCNG2   KDSR   LINC-ROR   LINC00305   LINC00683   LINC00908   LINC00909   LINC01029   LINC01415   LINC01416   LINC01538   LINC01539   LINC01541   LINC01544   LINC01879   LINC01893   LINC01896   LINC01898   LINC01899   LINC01903   LINC01905   LINC01909   LINC01910   LINC01912   LINC01922   LINC01924   LINC01926   LINC01927   LINC01929   LINC02565   LIVAR   LMAN1   LOC284241   MALT1   MBD2   MBP   MC4R   MIR122   MIR3591   MIR4529   MIR5011   MIR548AV   NARS1   NEDD4L   NETO1   NFATC1   ONECUT2   PARD6G   PARD6G-AS1   PHLPP1   PIGN   PMAIP1   POLI   RAB27B   RAX   RBFA   RBFADN   RELCH   RNF152   RNU6-39P   RTTN   SALL3   SEC11C   SERPINB10   SERPINB11   SERPINB12   SERPINB13   SERPINB2   SERPINB3   SERPINB4   SERPINB5   SERPINB7   SERPINB8   SLC66A2   SMIM21   SNORA108   SNORA37   SOCS6   ST8SIA3   STARD6   TCF4   TCF4-AS1   TIMM21   TMX3   TNFRSF11A   TSHZ1   TXNL1   TXNL4A   VPS4B   WDR7   WDR7-OT1   ZADH2   ZCCHC2   ZNF236   ZNF407   ZNF516   ZNF516-DT   ZNF532  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_53637007)_(80252149_?)del
NC_000018.9:g.(?_51163377)_(78010032_?)del
NC_000018.8:g.(?_49417375)_(76111023_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381853,637,007 - 80,252,149CLINVAR
GRCh371851,163,377 - 78,010,032CLINVAR
Build 361849,417,375 - 76,111,023CLINVAR
Cytogenetic Map1818q21.2-23CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620784
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.