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Variant : CV73370 (GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3) Homo sapiens

Symbol: CV73370
Name: GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAA2   ALPK2   ASXL3   ATP5F1A   ATP8B1   B4GALT6   BCL2   BOD1L2   C18orf12   C18orf21   C18orf25   C18orf32   C18orf54   CCBE1   CCDC178   CCDC68   CDH20   CELF4   CFAP53   CPLX4   CTIF   CXXC1   DCC   DSC1   DSC2   DSC3   DSCAS   DSG1   DSG1-AS1   DSG2   DSG2-AS1   DSG3   DSG4   DTNA   DYM   DYNAP   ELAC1   ELOA2   ELOA3   ELOA3B   ELOA3C   ELOA3D   ELP2   EPG5   FECH   FHOD3   GALNT1   GAREM1   GRP   HAUS1   HDHD2   HMSD   IER3IP1   INO80C   KATNAL2   KDSR   KIAA1328   KLHL14   LINC-ROR   LINC00305   LINC00907   LINC01415   LINC01416   LINC01477   LINC01478   LINC01538   LINC01539   LINC01544   LINC01601   LINC01630   LINC01905   LINC01917   LINC01919   LINC01924   LINC01926   LINC01929   LINC02565   LIPG   LMAN1   LOXHD1   MALT1   MAPK4   MAPRE2   MBD1   MBD2   MC4R   ME2   MEP1B   MEX3C   MIR122   MIR1539   MIR187   MIR302F   MIR3591   MIR3929   MIR3975   MIR4318   MIR4319   MIR4320   MIR4527   MIR4528   MIR4529   MIR4743   MIR4744   MIR5583-1   MIR5583-2   MIR924   MIR924HG   MOCOS   MRO   MYO5B   NARS1   NEDD4L   NOL4   ONECUT2   PHLPP1   PIAS2   PIGN   PIK3C3   PMAIP1   POLI   PSTPIP2   RAB27B   RAX   RELCH   RIT2   RNF125   RNF138   RNF152   RNF165   RPL17   RPL17-C18orf32   RPRD1A   SCARNA17   SEC11C   SERPINB10   SERPINB11   SERPINB12   SERPINB13   SERPINB2   SERPINB3   SERPINB4   SERPINB5   SERPINB7   SERPINB8   SETBP1   SIGLEC15   SKA1   SKOR2   SLC14A1   SLC14A2   SLC14A2-AS1   SLC25A52   SLC39A6   SMAD2   SMAD4   SMAD7   SNHG22   SNORA108   SNORA111   SNORA37   SNORD58A   SNORD58B   SNORD58C   ST8SIA3   ST8SIA5   STARD6   SYT4   TCF4   TCF4-AS1   TNFRSF11A   TPGS2   TRAPPC8   TRK-CTT6-1   TTR   TXNL1   VPS4B   WDR7   WDR7-OT1   ZBTB7C   ZCCHC2   ZNF24   ZNF271P   ZNF396   ZNF397   ZNF532   ZSCAN30  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_29249202)_(65448117_?)dup
NC_000018.9:g.(?_26829167)_(63115353_?)dup
NC_000018.8:g.(?_25083165)_(61266333_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381829,249,202 - 65,448,117CLINVAR
GRCh371826,829,167 - 63,115,353CLINVAR
Build 361825,083,165 - 61,266,333CLINVAR
Cytogenetic Map1818q12.1-22.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619539
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.