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Pathways
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Variant : CV72662 (GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3) Homo sapiens

Symbol: CV72662
Name: GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051810]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051810]|See cases [RCV000051810]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS12   ADAMTS16   ADCY2   AGXT2   AHRR   AMACR   ANKH   ANKRD33B   ANXA2R   ATPSCKMT   BASP1   BASP1-AS1   BRD9   BRIX1   C1QTNF3   C1QTNF3-AMACR   C5orf17   C5orf22   C5orf34   C5orf34-AS1   C5orf38   C5orf49   C5orf51   C6   C7   C9   CAPSL   CARD6   CCDC127   CCDC152   CCL28   CCT5   CDH10   CDH12   CDH18   CDH18-AS1   CDH6   CDH9   CEP72   CLPTM1L   CMBL   CPLANE1   CTNND2   DAB2   DAP   DNAH5   DNAJC21   DROSHA   EGFLAM   EGFLAM-AS2   EGFLAM-AS4   EXOC3   EXOC3-AS1   FASTKD3   FBXL7   FBXO4   FGF10   FGF10-AS1   FYB1   GDNF   GDNF-AS1   GHR   GOLPH3   H3Y1   H3Y2   HCN1   HMGCS1   ICE1   IL7R   IRX1   IRX2   IRX4   IRX4-AS1   LIFR   LIFR-AS1   LINC00603   LINC01017   LINC01018   LINC01019   LINC01020   LINC01194   LINC01265   LINC01377   LINC01511   LINC02061   LINC02063   LINC02064   LINC02102   LINC02103   LINC02104   LINC02107   LINC02109   LINC02110   LINC02111   LINC02112   LINC02114   LINC02116   LINC02119   LINC02120   LINC02121   LINC02123   LINC02142   LINC02145   LINC02146   LINC02149   LINC02150   LINC02160   LINC02162   LINC02199   LINC02211   LINC02212   LINC02213   LINC02217   LINC02218   LINC02220   LINC02221   LINC02223   LINC02224   LINC02226   LINC02228   LINC02236   LINC02239   LINC02241   LMBRD2   LOC153684   LPCAT1   LRRC14B   LSINCT5   MARCHF11   MARCHF6   MED10   MIR10397   MIR10522   MIR3650   MIR4277   MIR4278   MIR4279   MIR4456   MIR4457   MIR4458   MIR4458HG   MIR4635   MIR4636   MIR4637   MIR579   MIR580   MIR6075   MIR6131   MIR887   MROH2B   MRPL36   MRPS30   MRPS30-DT   MTMR12   MTRR   MYO10   NADK2   NDUFS6   NIM1K   NIPBL   NIPBL-DT   NKD2   NNT   NNT-AS1   NPR3   NSUN2   NUP155   OSMR   OSMR-AS1   OTULIN   OTULINL   OXCT1   OXCT1-AS1   PAIP1   PDCD6   PDZD2   PLCXD3   PLEKHG4B   PRDM9   PRKAA1   PRLR   PTGER4   PURPL   RAD1   RAI14   RANBP3L   RETREG1   RICTOR   ROPN1L   ROPN1L-AS1   RPL37   RXFP3   SDHA   SELENOP   SEMA5A   SEMA5A-AS1   SKP2   SLC12A7   SLC1A3   SLC45A2   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   SNHG18   SNORA105A   SNORD123   SNORD141B   SNORD170   SNORD72   SPEF2   SRD5A1   SUB1   TARS1   TAS2R1   TENT4A   TERT   TMEM267   TPPP   TRIO   TRIP13   TTC23L   TTC33   UBE2QL1   UGT3A1   UGT3A2   WDR70   ZDHHC11   ZDHHC11B   ZFR   ZNF131   ZNF622  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_54839)_(45649861_?)dup
NC_000005.9:g.(?_54954)_(45649963_?)dup
NC_000005.8:g.(?_107954)_(45685720_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38554,839 - 45,649,861CLINVAR
GRCh37554,954 - 45,649,963CLINVAR
Build 365107,954 - 45,685,720CLINVAR
Cytogenetic Map55p15.33-12CLINVAR


Annotation    (Toggle Annotation Detail/Summary View)

References - uncurated

Additional Information

External Database Links
  
CRRD Object Information
CRRD ID: 8618822
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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