ClinVar

GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3

Genes:

• HAAO:3-hydroxyanthranilate 3,4-dioxygenase [Gene - OMIM - HGNC]
• ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
• ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]
• ATP6V1E2:ATPase H+ transporting V1 subunit E2 [Gene - OMIM - HGNC]
• CEBPZ:CCAAT enhancer binding protein zeta [Gene - OMIM - HGNC]
• CDC42EP3:CDC42 effector protein 3 [Gene - OMIM - HGNC]
• CRIPT:CXXC repeat containing interactor of PDZ3 domain [Gene - OMIM - HGNC]
• CHAC2:ChaC glutathione specific gamma-glutamylcyclotransferase 2 [Gene - OMIM - HGNC]
• DHX57:DExH-box helicase 57 [Gene - HGNC]
• EFEMP1:EGF containing fibulin extracellular matrix protein 1 [Gene - OMIM - HGNC]
• EML4:EMAP like 4 [Gene - OMIM - HGNC]
• EML6:EMAP like 6 [Gene - HGNC]
• FBXO11:F-box protein 11 [Gene - OMIM - HGNC]
• GPR75:G protein-coupled receptor 75 [Gene - OMIM - HGNC]
• GPATCH11:G-patch domain containing 11 [Gene - HGNC]
• GPR75-ASB3:GPR75-ASB3 readthrough [Gene - HGNC]
• HEATR5B:HEAT repeat containing 5B [Gene - OMIM - HGNC]
• MORN2:MORN repeat containing 2 [Gene - HGNC]
• MSH2-OT1:MSH2 overlapping transcript 1 [Gene - HGNC]
• NDUFAF7:NADH:ubiquinone oxidoreductase complex assembly factor 7 [Gene - OMIM - HGNC]
• ARHGEF33:Rho guanine nucleotide exchange factor 33 [Gene - HGNC]
• SRBD1:S1 RNA binding domain 1 [Gene - HGNC]
• SIX2:SIX homeobox 2 [Gene - OMIM - HGNC]
• SIX3:SIX homeobox 3 [Gene - OMIM - HGNC]
• SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
• SOS1-IT1:SOS1 intronic transcript 1 [Gene - HGNC]
• STON1-GTF2A1L:STON1-GTF2A1L readthrough [Gene - HGNC]
• THADA:THADA armadillo repeat containing [Gene - OMIM - HGNC]
• THUMPD2:THUMP domain containing 2 [Gene - OMIM - HGNC]
• TSPYL6:TSPY like 6 [Gene - HGNC]
• ZFP36L2:ZFP36 ring finger protein like 2 [Gene - OMIM - HGNC]
• ACYP2:acylphosphatase 2 [Gene - OMIM - HGNC]
• ASB3:ankyrin repeat and SOCS box containing 3 [Gene - OMIM - HGNC]
• ATL2:atlastin GTPase 2 [Gene - OMIM - HGNC]
• BCYRN1:brain cytoplasmic RNA 1 [Gene - OMIM - HGNC]
• CALM2:calmodulin 2 [Gene - OMIM - HGNC]
• CAMKMT:calmodulin-lysine N-methyltransferase [Gene - OMIM - HGNC]
• C2orf73:chromosome 2 open reading frame 73 [Gene - HGNC]
• CFAP36:cilia and flagella associated protein 36 [Gene - HGNC]
• CLHC1:clathrin heavy chain linker domain containing 1 [Gene - HGNC]
• CCDC85A:coiled-coil domain containing 85A [Gene - HGNC]
• CCDC88A:coiled-coil domain containing 88A [Gene - OMIM - 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]
• DYNC2LI1:dynein cytoplasmic 2 light intermediate chain 1 [Gene - OMIM - HGNC]
• ERLEC1:endoplasmic reticulum lectin 1 [Gene - OMIM - HGNC]
• EPAS1:endothelial PAS domain protein 1 [Gene - OMIM - HGNC]
• EPCAM:epithelial cell adhesion molecule [Gene - OMIM - HGNC]
• EIF2AK2:eukaryotic translation initiation factor 2 alpha kinase 2 [Gene - OMIM - HGNC]
• FEZ2:fasciculation and elongation protein zeta 2 [Gene - OMIM - HGNC]
• FSHR:follicle stimulating hormone receptor [Gene - OMIM - HGNC]
• FOXN2:forkhead box N2 [Gene - OMIM - HGNC]
• GALM:galactose mutarotase [Gene - OMIM - HGNC]
• GEMIN6:gem nuclear organelle associated protein 6 [Gene - OMIM - HGNC]
• GTF2A1L:general transcription factor IIA subunit 1 like [Gene - OMIM - HGNC]
• QPCT:glutaminyl-peptide cyclotransferase [Gene - OMIM - HGNC]
• HNRNPLL:heterogeneous nuclear ribonucleoprotein L like [Gene - OMIM - HGNC]
• LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]
• LINC02898:long intergenic non-protein coding RNA 2898 [Gene - HGNC]
• LHCGR:luteinizing hormone/choriogonadotropin receptor [Gene - OMIM - HGNC]
• MTA3:metastasis associated 1 family member 3 [Gene - OMIM - HGNC]
• MIR216A:microRNA 216a [Gene - OMIM - HGNC]
• MIR217:microRNA 217 [Gene - OMIM - HGNC]
• MTIF2:mitochondrial translational initiation factor 2 [Gene - OMIM - HGNC]
• MAP4K3:mitogen-activated protein kinase kinase kinase kinase 3 [Gene - OMIM - HGNC]
• MCFD2:multiple coagulation factor deficiency 2, ER cargo receptor complex subunit [Gene - OMIM - HGNC]
• MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
• MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
• NRXN1:neurexin 1 [Gene - OMIM - HGNC]
• OXER1:oxoeicosanoid receptor 1 [Gene - OMIM - HGNC]
• PIGF:phosphatidylinositol glycan anchor biosynthesis class F [Gene - OMIM - HGNC]
• PLEKHH2:pleckstrin homology, MyTH4 and FERM domain containing H2 [Gene - OMIM - HGNC]
• PNPT1:polyribonucleotide nucleotidyltransferase 1 [Gene - OMIM - HGNC]
• KCNK12:potassium two pore domain channel subfamily K member 12 [Gene - OMIM - HGNC]
• KCNG3:potassium voltage-gated channel modifier subfamily G member 3 [Gene - OMIM - HGNC]
• PREPL:prolyl endopeptidase like [Gene - OMIM - HGNC]
• PSME4:proteasome activator subunit 4 [Gene - OMIM - HGNC]
• PRKCE:protein kinase C epsilon [Gene - OMIM - HGNC]
• PRKD3:protein kinase D3 [Gene - OMIM - HGNC]
• PKDCC:protein kinase domain containing, cytoplasmic [Gene - OMIM - HGNC]
• PPP1R21:protein phosphatase 1 regulatory subunit 21 [Gene - OMIM - HGNC]
• PPP4R3B:protein phosphatase 4 regulatory subunit 3B [Gene - OMIM - HGNC]
• PPM1B:protein phosphatase, Mg2+/Mn2+ dependent 1B [Gene - OMIM - HGNC]
• RHOQ:ras homolog family member Q [Gene - OMIM - HGNC]
• RMDN2:regulator of microtubule dynamics 2 [Gene - OMIM - HGNC]
• RTN4:reticulon 4 [Gene - OMIM - HGNC]
• RPS27A:ribosomal protein S27a [Gene - OMIM - HGNC]
• SRSF7:serine and arginine rich splicing factor 7 [Gene - OMIM - HGNC]
• SLC3A1:solute carrier family 3 member 1 [Gene - OMIM - HGNC]
• SLC8A1:solute carrier family 8 member A1 [Gene - OMIM - HGNC]
• SPTBN1:spectrin beta, non-erythrocytic 1 [Gene - OMIM - HGNC]
• STPG4:sperm-tail PG-rich repeat containing 4 [Gene - HGNC]
• STON1:stonin 1 [Gene - OMIM - HGNC]
• STRN:striatin [Gene - OMIM - HGNC]
• SULT6B1:sulfotransferase family 6B member 1 [Gene - OMIM - HGNC]
• SOCS5:suppressor of cytokine signaling 5 [Gene - OMIM - HGNC]
• TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]
• TMEM178A:transmembrane protein 178A [Gene - HGNC]
• TMEM247:transmembrane protein 247 [Gene - HGNC]
• VIT:vitrin [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

2p22.3-16.1

Genomic location:

Chr2: 34792916 - 56676541 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3

HGVS:

This HGVS expression did not pass validation