ClinVar

GRCh37/hg19 Xq28(chrX:152516781-153368573)x2

Genes:

• ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
• ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [Gene - OMIM - HGNC]
• BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
• HAUS7:HAUS augmin like complex subunit 7 [Gene - OMIM - HGNC]
• L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
• NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
• PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
• PNMA6E:PNMA family member 6E [Gene - HGNC]
• ARHGAP4:Rho GTPase activating protein 4 [Gene - OMIM - HGNC]
• SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
• ZFP92:ZFP92 zinc finger protein [Gene - HGNC]
• AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
• BGN:biglycan [Gene - OMIM - HGNC]
• CCNQ:cyclin Q [Gene - OMIM - HGNC]
• DUSP9:dual specificity phosphatase 9 [Gene - OMIM - HGNC]
• LOC100509091:extracellular matrix protein 2-like [Gene]
• HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
• IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
• IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [Gene - OMIM - HGNC]
• MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
• PLXNB3:plexin B3 [Gene - OMIM - HGNC]
• PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM - HGNC]
• RENBP:renin binding protein [Gene - OMIM - HGNC]
• SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
• SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
• TREX2:three prime repair exonuclease 2 [Gene - OMIM - HGNC]
• TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]
• ZNF275:zinc finger protein 275 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xq28

Genomic location:

ChrX: 152516781 - 153368573 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xq28(chrX:152516781-153368573)x2

HGVS:

This HGVS expression did not pass validation