ClinVar

GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3

Genes:

• NT5C1B:5'-nucleotidase, cytosolic IB [Gene - OMIM - HGNC]
• ADAM17:ADAM metallopeptidase domain 17 [Gene - OMIM - HGNC]
• ALKAL2:ALK and LTK ligand 2 [Gene - OMIM - HGNC]
• ATP6V1C2:ATPase H+ transporting V1 subunit C2 [Gene - OMIM - HGNC]
• ASAP2:ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 [Gene - OMIM - HGNC]
• CYRIA:CYFIP related Rac1 interactor A [Gene - HGNC]
• DDX1:DEAD-box helicase 1 [Gene - OMIM - HGNC]
• E2F6:E2F transcription factor 6 [Gene - OMIM - HGNC]
• EIPR1:EARP complex and GARP complex interacting protein 1 [Gene - OMIM - HGNC]
• GEN1:GEN1 Holliday junction 5' flap endonuclease [Gene - OMIM - HGNC]
• KLF11:KLF transcription factor 11 [Gene - OMIM - HGNC]
• LRATD1:LRAT domain containing 1 [Gene - OMIM - HGNC]
• MYCNOS:MYCN opposite strand [Gene - OMIM - HGNC]
• MYCN:MYCN proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
• NBAS:NBAS subunit of NRZ tethering complex [Gene - OMIM - HGNC]
• NT5C1B-RDH14:NT5C1B-RDH14 readthrough [Gene - HGNC]
• RAD51AP2:RAD51 associated protein 2 [Gene - HGNC]
• ROCK2:Rho associated coiled-coil containing protein kinase 2 [Gene - OMIM - HGNC]
• SH3YL1:SH3 and SYLF domain containing 1 [Gene - OMIM - HGNC]
• SOX11:SRY-box transcription factor 11 [Gene - OMIM - HGNC]
• TAF1B:TATA-box binding protein associated factor, RNA polymerase I subunit B [Gene - OMIM - HGNC]
• ACP1:acid phosphatase 1 [Gene - OMIM - HGNC]
• ADI1:acireductone dioxygenase 1 [Gene - OMIM - HGNC]
• ALLC:allantoicase [Gene - OMIM - HGNC]
• C2orf48:chromosome 2 open reading frame 48 [Gene - HGNC]
• C2orf50:chromosome 2 open reading frame 50 [Gene - HGNC]
• CPSF3:cleavage and polyadenylation specific factor 3 [Gene - OMIM - HGNC]
• COLEC11:collectin subfamily member 11 [Gene - OMIM - HGNC]
• CYS1:cystin 1 [Gene - OMIM - HGNC]
• CMPK2:cytidine/uridine monophosphate kinase 2 [Gene - OMIM - HGNC]
• DCDC2C:doublecortin domain containing 2C [Gene - HGNC]
• FAM110C:family with sequence similarity 110 member C [Gene - OMIM - HGNC]
• GRHL1:grainyhead like transcription factor 1 [Gene - OMIM - HGNC]
• GREB1:growth regulating estrogen receptor binding 1 [Gene - OMIM - HGNC]
• HPCAL1:hippocalcin like 1 [Gene - OMIM - HGNC]
• ID2:inhibitor of DNA binding 2 [Gene - OMIM - HGNC]
• ITGB1BP1:integrin subunit beta 1 binding protein 1 [Gene - OMIM - HGNC]
• IAH1:isoamyl acetate hydrolyzing esterase 1 (putative) [Gene - HGNC]
• KIDINS220:kinase D interacting substrate 220 [Gene - OMIM - HGNC]
• LPIN1:lipin 1 [Gene - OMIM - HGNC]
• LINC00570:long intergenic non-protein coding RNA 570 [Gene - HGNC]
• MBOAT2:membrane bound O-acyltransferase domain containing 2 [Gene - OMIM - HGNC]
• MSGN1:mesogenin 1 [Gene - OMIM - HGNC]
• MYT1L:myelin transcription factor 1 like [Gene - OMIM - HGNC]
• NTSR2:neurotensin receptor 2 [Gene - OMIM - HGNC]
• NOL10:nucleolar protein 10 [Gene - OMIM - HGNC]
• OSR1:odd-skipped related transcription factor 1 [Gene - OMIM - HGNC]
• ODC1:ornithine decarboxylase 1 [Gene - OMIM - HGNC]
• PXDN:peroxidasin [Gene - OMIM - HGNC]
• KCNF1:potassium voltage-gated channel modifier subfamily F member 1 [Gene - OMIM - HGNC]
• KCNS3:potassium voltage-gated channel modifier subfamily S member 3 [Gene - OMIM - HGNC]
• PDIA6:protein disulfide isomerase family A member 6 [Gene - OMIM - HGNC]
• RSAD2:radical S-adenosyl methionine domain containing 2 [Gene - OMIM - HGNC]
• RDH14:retinol dehydrogenase 14 [Gene - OMIM - HGNC]
• RNASEH1:ribonuclease H1 [Gene - OMIM - HGNC]
• RRM2:ribonucleotide reductase regulatory subunit M2 [Gene - OMIM - HGNC]
• RPS7:ribosomal protein S7 [Gene - OMIM - HGNC]
• RNF144A:ring finger protein 144A [Gene - OMIM - HGNC]
• SLC66A3:solute carrier family 66 member 3 [Gene - HGNC]
• SMC6:structural maintenance of chromosomes 6 [Gene - OMIM - HGNC]
• SNTG2:syntrophin gamma 2 [Gene - OMIM - HGNC]
• TPO:thyroid peroxidase [Gene - OMIM - HGNC]
• TRAPPC12:trafficking protein particle complex subunit 12 [Gene - OMIM - HGNC]
• TMEM18:transmembrane protein 18 [Gene - OMIM - HGNC]
• TRIB2:tribbles pseudokinase 2 [Gene - OMIM - HGNC]
• YWHAQ:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta [Gene - OMIM - HGNC]
• VSNL1:visinin like 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

2p25.3-24.1

Genomic location:

Chr2: 12770 - 20081474 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3

HGVS:

This HGVS expression did not pass validation

Links:

dbVar: nssv14082194; dbVar: nsv3109819

Observations:

1