ClinVar

GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3

Genes:

• HAAO:3-hydroxyanthranilate 3,4-dioxygenase [Gene - OMIM - HGNC]
• AGBL5:AGBL carboxypeptidase 5 [Gene - OMIM - HGNC]
• ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]
• ASXL2:ASXL transcriptional regulator 2 [Gene - OMIM - HGNC]
• BABAM2:BRISC and BRCA1 A complex member 2 [Gene - OMIM - HGNC]
• CLIP4:CAP-Gly domain containing linker protein family member 4 [Gene - HGNC]
• CEBPZ:CCAAT enhancer binding protein zeta [Gene - OMIM - HGNC]
• CDC42EP3:CDC42 effector protein 3 [Gene - OMIM - HGNC]
• DHX57:DExH-box helicase 57 [Gene - HGNC]
• DNMT3A:DNA methyltransferase 3 alpha [Gene - OMIM - HGNC]
• DNAJC27:DnaJ heat shock protein family (Hsp40) member C27 [Gene - OMIM - HGNC]
• DNAJC5G:DnaJ heat shock protein family (Hsp40) member C5 gamma [Gene - OMIM - HGNC]
• EFR3B:EFR3 homolog B [Gene - OMIM - HGNC]
• EHD3:EH domain containing 3 [Gene - OMIM - HGNC]
• EML4:EMAP like 4 [Gene - OMIM - HGNC]
• FOSL2:FOS like 2, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
• GPATCH11:G-patch domain containing 11 [Gene - HGNC]
• GPN1:GPN-loop GTPase 1 [Gene - OMIM - HGNC]
• GAREM2:GRB2 associated regulator of MAPK1 subtype 2 [Gene - OMIM - HGNC]
• HEATR5B:HEAT repeat containing 5B [Gene - OMIM - HGNC]
• LBH:LBH regulator of WNT signaling pathway [Gene - OMIM - HGNC]
• MORN2:MORN repeat containing 2 [Gene - HGNC]
• NDUFAF7:NADH:ubiquinone oxidoreductase complex assembly factor 7 [Gene - OMIM - HGNC]
• NLRC4:NLR family CARD domain containing 4 [Gene - OMIM - HGNC]
• RAB10:RAB10, member RAS oncogene family [Gene - OMIM - HGNC]
• RASGRP3:RAS guanyl releasing protein 3 [Gene - OMIM - HGNC]
• ARHGEF33:Rho guanine nucleotide exchange factor 33 [Gene - HGNC]
• SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
• SOS1-IT1:SOS1 intronic transcript 1 [Gene - HGNC]
• SPATA31H1:SPATA31 subfamily H member 1 [Gene - HGNC]
• SUPT7L:SPT7 like, STAGA complex subunit gamma [Gene - OMIM - HGNC]
• THADA:THADA armadillo repeat containing [Gene - OMIM - HGNC]
• THUMPD2:THUMP domain containing 2 [Gene - OMIM - HGNC]
• TOGARAM2:TOG array regulator of axonemal microtubules 2 [Gene - HGNC]
• WDR43:WD repeat domain 43 [Gene - OMIM - HGNC]
• YIPF4:Yip1 domain family member 4 [Gene - OMIM - HGNC]
• ZFP36L2:ZFP36 ring finger protein like 2 [Gene - OMIM - HGNC]
• ABHD1:abhydrolase domain containing 1 [Gene - OMIM - HGNC]
• ADCY3:adenylate cyclase 3 [Gene - OMIM - HGNC]
• ADGRF3:adhesion G protein-coupled receptor F3 [Gene - HGNC]
• ATRAID:all-trans retinoic acid induced differentiation factor [Gene - OMIM - HGNC]
• ATL2:atlastin GTPase 2 [Gene - OMIM - HGNC]
• BIRC6:baculoviral IAP repeat containing 6 [Gene - OMIM - HGNC]
• CIB4:calcium and integrin binding family member 4 [Gene - OMIM - HGNC]
• CAPN13:calpain 13 [Gene - OMIM - HGNC]
• CAPN14:calpain 14 [Gene - OMIM - HGNC]
• CAD:carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase [Gene - OMIM - HGNC]
• CGREF1:cell growth regulator with EF-hand domain 1 [Gene - OMIM - HGNC]
• CENPA:centromere protein A [Gene - OMIM - HGNC]
• CENPO:centromere protein O [Gene - OMIM - HGNC]
• CIMIP2C:ciliary microtubule inner protein 2C [Gene - HGNC]
• CCDC121:coiled-coil domain containing 121 [Gene - HGNC]
• CDKL4:cyclin dependent kinase like 4 [Gene - HGNC]
• CRIM1:cysteine rich transmembrane BMP regulator 1 [Gene - OMIM - HGNC]
• CYP1B1:cytochrome P450 family 1 subfamily B member 1 [Gene - OMIM - HGNC]
• COX7A2L:cytochrome c oxidase subunit 7A2 like [Gene - OMIM - HGNC]
• DPYSL5:dihydropyrimidinase like 5 [Gene - OMIM - HGNC]
• DPY30:dpy-30 histone methyltransferase complex regulatory subunit [Gene - OMIM - HGNC]
• DRC1:dynein regulatory complex subunit 1 [Gene - OMIM - HGNC]
• DTNB:dystrobrevin beta [Gene - OMIM - HGNC]
• EMILIN1:elastin microfibril interfacer 1 [Gene - OMIM - HGNC]
• EIF2AK2:eukaryotic translation initiation factor 2 alpha kinase 2 [Gene - OMIM - HGNC]
• EIF2B4:eukaryotic translation initiation factor 2B subunit delta [Gene - OMIM - HGNC]
• FAM98A:family with sequence similarity 98 member A [Gene - HGNC]
• FEZ2:fasciculation and elongation protein zeta 2 [Gene - OMIM - HGNC]
• FNDC4:fibronectin type III domain containing 4 [Gene - OMIM - HGNC]
• GALM:galactose mutarotase [Gene - OMIM - HGNC]
• GEMIN6:gem nuclear organelle associated protein 6 [Gene - OMIM - HGNC]
• GTF3C2:general transcription factor IIIC subunit 2 [Gene - OMIM - HGNC]
• GCKR:glucokinase regulator [Gene - OMIM - HGNC]
• QPCT:glutaminyl-peptide cyclotransferase [Gene - OMIM - HGNC]
• HNRNPLL:heterogeneous nuclear ribonucleoprotein L like [Gene - OMIM - HGNC]
• HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]
• HADHB:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [Gene - OMIM - HGNC]
• IFT172:intraflagellar transport 172 [Gene - OMIM - HGNC]
• KRTCAP3:keratinocyte associated protein 3 [Gene - OMIM - HGNC]
• KHK:ketohexokinase [Gene - OMIM - HGNC]
• KIF3C:kinesin family member 3C [Gene - OMIM - HGNC]
• LTBP1:latent transforming growth factor beta binding protein 1 [Gene - OMIM - HGNC]
• LINC02898:long intergenic non-protein coding RNA 2898 [Gene - HGNC]
• LCLAT1:lysocardiolipin acyltransferase 1 [Gene - OMIM - HGNC]
• MEMO1:mediator of cell motility 1 [Gene - OMIM - HGNC]
• MTA3:metastasis associated 1 family member 3 [Gene - OMIM - HGNC]
• MAPRE3:microtubule associated protein RP/EB family member 3 [Gene - OMIM - HGNC]
• MPV17:mitochondrial inner membrane protein MPV17 [Gene - OMIM - HGNC]
• MRPL33:mitochondrial ribosomal protein L33 [Gene - OMIM - HGNC]
• MAP4K3:mitogen-activated protein kinase kinase kinase kinase 3 [Gene - OMIM - HGNC]
• NRBP1:nuclear receptor binding protein 1 [Gene - OMIM - HGNC]
• NCOA1:nuclear receptor coactivator 1 [Gene - OMIM - HGNC]
• OST4:oligosaccharyltransferase complex subunit 4, non-catalytic [Gene - OMIM - HGNC]
• OTOF:otoferlin [Gene - OMIM - HGNC]
• OXER1:oxoeicosanoid receptor 1 [Gene - OMIM - HGNC]
• PTRHD1:peptidyl-tRNA hydrolase domain containing 1 [Gene - OMIM - HGNC]
• PLB1:phospholipase B1 [Gene - OMIM - HGNC]
• PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
• GALNT14:polypeptide N-acetylgalactosaminyltransferase 14 [Gene - OMIM - HGNC]
• KCNK3:potassium two pore domain channel subfamily K member 3 [Gene - OMIM - HGNC]
• KCNG3:potassium voltage-gated channel modifier subfamily G member 3 [Gene - OMIM - HGNC]
• PREB:prolactin regulatory element binding [Gene - OMIM - HGNC]
• PRR30:proline rich 30 [Gene - HGNC]
• POMC:proopiomelanocortin [Gene - OMIM - HGNC]
• PRKD3:protein kinase D3 [Gene - OMIM - HGNC]
• PKDCC:protein kinase domain containing, cytoplasmic [Gene - OMIM - HGNC]
• PPP1CB:protein phosphatase 1 catalytic subunit beta [Gene - OMIM - HGNC]
• PPM1G:protein phosphatase, Mg2+/Mn2+ dependent 1G [Gene - OMIM - HGNC]
• RMDN2:regulator of microtubule dynamics 2 [Gene - OMIM - HGNC]
• RBKS:ribokinase [Gene - OMIM - HGNC]
• SELENOI:selenoprotein I [Gene - OMIM - HGNC]
• SRSF7:serine and arginine rich splicing factor 7 [Gene - OMIM - HGNC]
• SLC30A3:solute carrier family 30 member 3 [Gene - OMIM - HGNC]
• SLC30A6:solute carrier family 30 member 6 [Gene - OMIM - HGNC]
• SLC35F6:solute carrier family 35 member F6 [Gene - OMIM - HGNC]
• SLC4A1AP:solute carrier family 4 member 1 adaptor protein [Gene - OMIM - HGNC]
• SLC5A6:solute carrier family 5 member 6 [Gene - OMIM - HGNC]
• SLC8A1:solute carrier family 8 member A1 [Gene - OMIM - HGNC]
• SNX17:sorting nexin 17 [Gene - OMIM - HGNC]
• SPAST:spastin [Gene - OMIM - HGNC]
• SPDYA:speedy/RINGO cell cycle regulator family member A [Gene - OMIM - HGNC]
• SRD5A2:steroid 5 alpha-reductase 2 [Gene - OMIM - HGNC]
• STRN:striatin [Gene - OMIM - HGNC]
• SULT6B1:sulfotransferase family 6B member 1 [Gene - OMIM - HGNC]
• TRMT61B:tRNA methyltransferase 61B [Gene - OMIM - HGNC]
• TTC27:tetratricopeptide repeat domain 27 [Gene - HGNC]
• TCF23:transcription factor 23 [Gene - OMIM - HGNC]
• TMEM178A:transmembrane protein 178A [Gene - HGNC]
• TMEM214:transmembrane protein 214 [Gene - OMIM - HGNC]
• TRIM54:tripartite motif containing 54 [Gene - OMIM - HGNC]
• UCN:urocortin [Gene - OMIM - HGNC]
• VIT:vitrin [Gene - OMIM - HGNC]
• XDH:xanthine dehydrogenase [Gene - OMIM - HGNC]
• YPEL5:yippee like 5 [Gene - OMIM - HGNC]
• ZNF512:zinc finger protein 512 [Gene - HGNC]
• ZNF513:zinc finger protein 513 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

2p23.3-21

Genomic location:

Chr2: 24881528 - 43460021 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3

HGVS:

This HGVS expression did not pass validation

Observations:

1