ClinVar

GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)

Genes:

• AFF3:ALF transcription elongation factor 3 [Gene - OMIM - HGNC]
• ARID5A:AT-rich interaction domain 5A [Gene - OMIM - HGNC]
• CNOT11:CCR4-NOT transcription complex subunit 11 [Gene - HGNC]
• CRACDL:CRACD like [Gene - HGNC]
• ECRG4:ECRG4 augurin precursor [Gene - OMIM - HGNC]
• GPR45:G protein-coupled receptor 45 [Gene - OMIM - HGNC]
• ITPRIPL1:ITPRIP like 1 [Gene - HGNC]
• KANSL3:KAT8 regulatory NSL complex subunit 3 [Gene - OMIM - HGNC]
• LONRF2:LON peptidase N-terminal domain and ring finger 2 [Gene - HGNC]
• NCK2:NCK adaptor protein 2 [Gene - OMIM - HGNC]
• POU3F3:POU class 3 homeobox 3 [Gene - OMIM - HGNC]
• RGPD3:RANBP2 like and GRIP domain containing 3 [Gene - OMIM - HGNC]
• RGPD4:RANBP2 like and GRIP domain containing 4 [Gene - OMIM - HGNC]
• REV1:REV1 DNA directed polymerase [Gene - OMIM - HGNC]
• ST6GAL2:ST6 beta-galactoside alpha-2,6-sialyltransferase 2 [Gene - OMIM - HGNC]
• STARD7:StAR related lipid transfer domain containing 7 [Gene - OMIM - HGNC]
• TBC1D8:TBC1 domain family member 8 [Gene - HGNC]
• UXS1:UDP-glucuronate decarboxylase 1 [Gene - OMIM - HGNC]
• ACTR1B:actin related protein 1B [Gene - OMIM - HGNC]
• ADRA2B:adrenoceptor alpha 2B [Gene - OMIM - HGNC]
• MGAT4A:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A [Gene - OMIM - HGNC]
• ANKRD23:ankyrin repeat domain 23 [Gene - OMIM - HGNC]
• ANKRD36:ankyrin repeat domain 36 [Gene - OMIM - HGNC]
• ANKRD36B:ankyrin repeat domain 36B [Gene - HGNC]
• ANKRD36C:ankyrin repeat domain 36C [Gene - HGNC]
• ANKRD39:ankyrin repeat domain 39 [Gene - HGNC]
• ASTL:astacin like metalloendopeptidase [Gene - OMIM - HGNC]
• CHST10:carbohydrate sulfotransferase 10 [Gene - OMIM - HGNC]
• CREG2:cellular repressor of E1A stimulated genes 2 [Gene - OMIM - HGNC]
• C2orf15:chromosome 2 open reading frame 15 [Gene - HGNC]
• C2orf49:chromosome 2 open reading frame 49 [Gene - HGNC]
• CNGA3:cyclic nucleotide gated channel subunit alpha 3 [Gene - OMIM - HGNC]
• CNNM3:cyclin and CBS domain divalent metal cation transport mediator 3 [Gene - OMIM - HGNC]
• CNNM4:cyclin and CBS domain divalent metal cation transport mediator 4 [Gene - OMIM - HGNC]
• COA5:cytochrome c oxidase assembly factor 5 [Gene - OMIM - HGNC]
• COX5B:cytochrome c oxidase subunit 5B [Gene - OMIM - HGNC]
• CIAO1:cytosolic iron-sulfur assembly component 1 [Gene - OMIM - HGNC]
• DUSP2:dual specificity phosphatase 2 [Gene - OMIM - HGNC]
• EIF5B:eukaryotic translation initiation factor 5B [Gene - OMIM - HGNC]
• FAM178B:family with sequence similarity 178 member B [Gene - HGNC]
• FER1L5:fer-1 like family member 5 [Gene - HGNC]
• FHL2:four and a half LIM domains 2 [Gene - OMIM - HGNC]
• FAHD2A:fumarylacetoacetate hydrolase domain containing 2A [Gene - HGNC]
• FAHD2B:fumarylacetoacetate hydrolase domain containing 2B [Gene - HGNC]
• GPAT2:glycerol-3-phosphate acyltransferase 2, mitochondrial [Gene - OMIM - HGNC]
• INPP4A:inositol polyphosphate-4-phosphatase type I A [Gene - OMIM - HGNC]
• IL1RL1:interleukin 1 receptor like 1 [Gene - OMIM - HGNC]
• IL1RL2:interleukin 1 receptor like 2 [Gene - OMIM - HGNC]
• IL1R1:interleukin 1 receptor type 1 [Gene - OMIM - HGNC]
• IL1R2:interleukin 1 receptor type 2 [Gene - OMIM - HGNC]
• IL18R1:interleukin 18 receptor 1 [Gene - OMIM - HGNC]
• IL18RAP:interleukin 18 receptor accessory protein [Gene - OMIM - HGNC]
• LMAN2L:lectin, mannose binding 2 like [Gene - OMIM - HGNC]
• LIPT1:lipoyltransferase 1 [Gene - OMIM - HGNC]
• LYG1:lysozyme g1 [Gene - HGNC]
• LYG2:lysozyme g2 [Gene - OMIM - HGNC]
• MFSD9:major facilitator superfamily domain containing 9 [Gene - HGNC]
• MAL:mal, T cell differentiation protein [Gene - OMIM - HGNC]
• MITD1:microtubule interacting and trafficking domain containing 1 [Gene - HGNC]
• MRPL30:mitochondrial ribosomal protein L30 [Gene - OMIM - HGNC]
• MRPS5:mitochondrial ribosomal protein S5 [Gene - OMIM - HGNC]
• MRPS9:mitochondrial ribosomal protein S9 [Gene - OMIM - HGNC]
• MAP4K4:mitogen-activated protein kinase kinase kinase kinase 4 [Gene - OMIM - HGNC]
• NMS:neuromedin S [Gene - OMIM - HGNC]
• NPAS2:neuronal PAS domain protein 2 [Gene - OMIM - HGNC]
• NCAPH:non-SMC condensin I complex subunit H [Gene - OMIM - HGNC]
• PDCL3:phosducin like 3 [Gene - OMIM - HGNC]
• KCNIP3:potassium voltage-gated channel interacting protein 3 [Gene - OMIM - HGNC]
• PROM2:prominin 2 [Gene - OMIM - HGNC]
• RFX8:regulatory factor X8 [Gene - HGNC]
• RPL31:ribosomal protein L31 [Gene - OMIM - HGNC]
• RNF149:ring finger protein 149 [Gene - HGNC]
• SEMA4C:semaphorin 4C [Gene - OMIM - HGNC]
• SNRNP200:small nuclear ribonucleoprotein U5 subunit 200 [Gene - OMIM - HGNC]
• SLC9A2:solute carrier family 9 member A2 [Gene - OMIM - HGNC]
• SLC9A4:solute carrier family 9 member A4 [Gene - OMIM - HGNC]
• TEKT4:tektin 4 [Gene - HGNC]
• TSGA10:testis specific 10 [Gene - OMIM - HGNC]
• TXNDC9:thioredoxin domain containing 9 [Gene - OMIM - HGNC]
• TGFBRAP1:transforming growth factor beta receptor associated protein 1 [Gene - OMIM - HGNC]
• TMEM127:transmembrane protein 127 [Gene - OMIM - HGNC]
• TMEM131:transmembrane protein 131 [Gene - OMIM - HGNC]
• TMEM182:transmembrane protein 182 [Gene - HGNC]
• TRIM43:tripartite motif containing 43 [Gene - HGNC]
• TRIM43B:tripartite motif containing 43B [Gene - HGNC]
• UNC50:unc-50 inner nuclear membrane RNA binding protein [Gene - OMIM - HGNC]
• VWA3B:von Willebrand factor A domain containing 3B [Gene - OMIM - HGNC]
• ZAP70:zeta chain of T cell receptor associated protein kinase 70 [Gene - OMIM - HGNC]
• ZNF2:zinc finger protein 2 [Gene - OMIM - HGNC]
• ZNF514:zinc finger protein 514 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

2q11.1-12.3

Genomic location:

Chr2: 95529039 - 108518266 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)

HGVS:

This HGVS expression did not pass validation

Links:

dbVar: nssv585227; dbVar: nsv498511

Observations:

1