ClinVar

GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)

Genes:

• CREBZF:CREB/ATF bZIP transcription factor [Gene - OMIM - HGNC]
• CWC15:CWC15 spliceosome associated protein homolog [Gene - HGNC]
• DDIAS:DNA damage induced apoptosis suppressor [Gene - OMIM - HGNC]
• FAT3:FAT atypical cadherin 3 [Gene - OMIM - HGNC]
• GPR83:G protein-coupled receptor 83 [Gene - OMIM - HGNC]
• IZUMO1R:IZUMO1 receptor, JUNO [Gene - OMIM - HGNC]
• MRE11:MRE11 homolog, double strand break repair nuclease [Gene - OMIM - HGNC]
• NAALAD2:N-acetylated alpha-linked acidic dipeptidase 2 [Gene - OMIM - HGNC]
• NOX4:NADPH oxidase 4 [Gene - OMIM - HGNC]
• PCF11:PCF11 cleavage and polyadenylation factor subunit [Gene - OMIM - HGNC]
• RAB30:RAB30, member RAS oncogene family [Gene - OMIM - HGNC]
• RAB38:RAB38, member RAS oncogene family [Gene - OMIM - HGNC]
• TAF1D:TATA-box binding protein associated factor, RNA polymerase I subunit D [Gene - OMIM - HGNC]
• VSTM5:V-set and transmembrane domain containing 5 [Gene - HGNC]
• AMOTL1:angiomotin like 1 [Gene - OMIM - HGNC]
• ANKRD42:ankyrin repeat domain 42 [Gene - OMIM - HGNC]
• ANKRD49:ankyrin repeat domain 49 [Gene - OMIM - HGNC]
• CTSC:cathepsin C [Gene - OMIM - HGNC]
• CEP295:centrosomal protein 295 [Gene - OMIM - HGNC]
• CEP57:centrosomal protein 57 [Gene - OMIM - HGNC]
• C11orf54:chromosome 11 open reading frame 54 [Gene - OMIM - HGNC]
• CCDC81:coiled-coil domain containing 81 [Gene - HGNC]
• CCDC82:coiled-coil domain containing 82 [Gene - OMIM - HGNC]
• CCDC83:coiled-coil domain containing 83 [Gene - HGNC]
• CCDC89:coiled-coil domain containing 89 [Gene - HGNC]
• CCDC90B:coiled-coil domain containing 90B [Gene - HGNC]
• CHORDC1:cysteine and histidine rich domain containing 1 [Gene - OMIM - HGNC]
• DEUP1:deuterosome assembly protein 1 [Gene - OMIM - HGNC]
• DLG2:discs large MAGUK scaffold protein 2 [Gene - OMIM - HGNC]
• EED:embryonic ectoderm development [Gene - OMIM - HGNC]
• ENDOD1:endonuclease domain containing 1 [Gene - OMIM - HGNC]
• FAM181B:family with sequence similarity 181 member B [Gene - HGNC]
• FAM76B:family with sequence similarity 76 member B [Gene - HGNC]
• FOLH1B:folate hydrolase 1B [Gene - OMIM - HGNC]
• FZD4:frizzled class receptor 4 [Gene - OMIM - HGNC]
• FUT4:fucosyltransferase 4 [Gene - OMIM - HGNC]
• GRM5:glutamate metabotropic receptor 5 [Gene - OMIM - HGNC]
• HIKESHI:heat shock protein nuclear import factor hikeshi [Gene - OMIM - HGNC]
• HEPHL1:hephaestin like 1 [Gene - OMIM - HGNC]
• KDM4D:lysine demethylase 4D [Gene - OMIM - HGNC]
• KDM4E:lysine demethylase 4E [Gene - OMIM - HGNC]
• ME3:malic enzyme 3 [Gene - OMIM - HGNC]
• MAML2:mastermind like transcriptional coactivator 2 [Gene - OMIM - HGNC]
• MED17:mediator complex subunit 17 [Gene - OMIM - HGNC]
• MTNR1B:melatonin receptor 1B [Gene - OMIM - HGNC]
• MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]
• PANX1:pannexin 1 [Gene - OMIM - HGNC]
• PICALM:phosphatidylinositol binding clathrin assembly protein [Gene - OMIM - HGNC]
• PIWIL4:piwi like RNA-mediated gene silencing 4 [Gene - OMIM - HGNC]
• PRCP:prolylcarboxypeptidase [Gene - OMIM - HGNC]
• SRSF8:serine and arginine rich splicing factor 8 [Gene - OMIM - HGNC]
• PRSS23:serine protease 23 [Gene - OMIM - HGNC]
• SESN3:sestrin 3 [Gene - OMIM - HGNC]
• SMCO4:single-pass membrane protein with coiled-coil domains 4 [Gene - OMIM - HGNC]
• SLC36A4:solute carrier family 36 member 4 [Gene - OMIM - HGNC]
• SYTL2:synaptotagmin like 2 [Gene - OMIM - HGNC]
• TMEM126A:transmembrane protein 126A [Gene - OMIM - HGNC]
• TMEM126B:transmembrane protein 126B [Gene - OMIM - HGNC]
• TMEM135:transmembrane protein 135 [Gene - OMIM - HGNC]
• TRIM49:tripartite motif containing 49 [Gene - OMIM - HGNC]
• TRIM49C:tripartite motif containing 49C [Gene - HGNC]
• TRIM49D1:tripartite motif containing 49D1 [Gene - HGNC]
• TRIM49D2:tripartite motif containing 49D2 [Gene - HGNC]
• TRIM64:tripartite motif containing 64 [Gene - HGNC]
• TRIM64B:tripartite motif containing 64B [Gene - HGNC]
• TRIM77:tripartite motif containing 77 [Gene - HGNC]
• TYR:tyrosinase [Gene - OMIM - HGNC]
• UBTFL1:upstream binding transcription factor like 1 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

11q14.1-21

Genomic location:

Chr11: 80318996 - 96116221 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)

HGVS:

NC_000011.9:g.(?_80318996)_(96116221_?)del

This HGVS expression did not pass validation

Observations:

1