ClinVar

GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3

Genes:

• BCAS3:BCAS3 microtubule associated cell migration factor [Gene - OMIM - HGNC]
• BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
• CD79B:CD79b molecule [Gene - OMIM - HGNC]
• DCAF7:DDB1 and CUL4 associated factor 7 [Gene - OMIM - HGNC]
• DDX42:DEAD-box helicase 42 [Gene - OMIM - HGNC]
• DDX5:DEAD-box helicase 5 [Gene - OMIM - HGNC]
• POLG2:DNA polymerase gamma 2, accessory subunit [Gene - OMIM - HGNC]
• EFCAB3:EF-hand calcium binding domain 3 [Gene - OMIM - HGNC]
• FTSJ3:FtsJ RNA 2'-O-methyltransferase 3 [Gene - OMIM - HGNC]
• GNA13:G protein subunit alpha 13 [Gene - OMIM - HGNC]
• LIMD2:LIM domain containing 2 [Gene - HGNC]
• SMURF2:SMAD specific E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
• STRADA:STE20 related adaptor alpha [Gene - OMIM - HGNC]
• SMARCD2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 [Gene - OMIM - HGNC]
• TBX2:T-box transcription factor 2 [Gene - OMIM - HGNC]
• TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
• ACE:angiotensin I converting enzyme [Gene - OMIM - HGNC]
• APOH:apolipoprotein H [Gene - OMIM - HGNC]
• AXIN2:axin 2 [Gene - OMIM - HGNC]
• CEP112:centrosomal protein 112 [Gene - OMIM - HGNC]
• CEP95:centrosomal protein 95 [Gene - HGNC]
• CSH1:chorionic somatomammotropin hormone 1 [Gene - OMIM - HGNC]
• CSH2:chorionic somatomammotropin hormone 2 [Gene - OMIM - HGNC]
• CSHL1:chorionic somatomammotropin hormone like 1 [Gene - OMIM - HGNC]
• CCDC47:coiled-coil domain containing 47 [Gene - OMIM - HGNC]
• CYB561:cytochrome b561 [Gene - OMIM - HGNC]
• ERN1:endoplasmic reticulum to nucleus signaling 1 [Gene - OMIM - HGNC]
• GH1:growth hormone 1 [Gene - OMIM - HGNC]
• GH2:growth hormone 2 [Gene - OMIM - HGNC]
• INTS2:integrator complex subunit 2 [Gene - OMIM - HGNC]
• ICAM2:intercellular adhesion molecule 2 [Gene - OMIM - HGNC]
• LRRC37A3:leucine rich repeat containing 37 member A3 [Gene - OMIM - HGNC]
• LINC02875:long intergenic non-protein coding RNA 2875 [Gene - HGNC]
• MRC2:mannose receptor C-type 2 [Gene - OMIM - HGNC]
• MILR1:mast cell immunoglobulin like receptor 1 [Gene - HGNC]
• MED13:mediator complex subunit 13 [Gene - OMIM - HGNC]
• MARCHF10:membrane associated ring-CH-type finger 10 [Gene - OMIM - HGNC]
• METTL2A:methyltransferase 2A, tRNA N3-cytidine [Gene - OMIM - HGNC]
• MAP3K3:mitogen-activated protein kinase kinase kinase 3 [Gene - OMIM - HGNC]
• NACA2:nascent polypeptide associated complex subunit alpha 2 [Gene - OMIM - HGNC]
• PECAM1:platelet and endothelial cell adhesion molecule 1 [Gene - OMIM - HGNC]
• KCNH6:potassium voltage-gated channel subfamily H member 6 [Gene - OMIM - HGNC]
• PRR29:proline rich 29 [Gene - HGNC]
• PSMC5:proteasome 26S subunit, ATPase 5 [Gene - OMIM - HGNC]
• RGS9:regulator of G protein signaling 9 [Gene - OMIM - HGNC]
• SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
• TEX2:testis expressed 2 [Gene - OMIM - HGNC]
• TANC2:tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Gene - OMIM - HGNC]
• TLK2:tousled like kinase 2 [Gene - OMIM - HGNC]
• TACO1:translational activator of cytochrome c oxidase I [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17q23-24

Genomic location:

• Chr17: 59209629 - 64222315 (on Assembly GRCh37)
• Chr17: 56564411 - 61652777 (on Assembly NCBI36)

Preferred name:

GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3

HGVS:

• NC_000017.10:g.(?_59209629)_(64222315_?)dup
• NC_000017.9:g.(?_56564411)_(61652777_?)dup

This HGVS expression did not pass validation

Links:

dbVar: nssv578746; dbVar: nsv531191

Observations:

1