ClinVar

GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3

Genes:

• CHRFAM7A:CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion [Gene - OMIM - HGNC]
• EMC7:ER membrane protein complex subunit 7 [Gene - HGNC]
• FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
• KLF13:KLF transcription factor 13 [Gene - OMIM - HGNC]
• NSMCE3:NSE3 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
• OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
• ARHGAP11A:Rho GTPase activating protein 11A [Gene - OMIM - HGNC]
• ARHGAP11B:Rho GTPase activating protein 11B [Gene - OMIM - HGNC]
• APBA2:amyloid beta precursor protein binding family A member 2 [Gene - OMIM - HGNC]
• AVEN:apoptosis and caspase activation inhibitor [Gene - OMIM - HGNC]
• CHRM5:cholinergic receptor muscarinic 5 [Gene - OMIM - HGNC]
• CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - HGNC]
• ENTREP2:endosomal transmembrane epsin interactor 2 [Gene - OMIM - HGNC]
• GOLGA8H:golgin A8 family member H [Gene - HGNC]
• GOLGA8J:golgin A8 family member J [Gene - HGNC]
• GOLGA8M:golgin A8 family member M [Gene - HGNC]
• GOLGA8N:golgin A8 family member N [Gene - HGNC]
• GOLGA8O:golgin A8 family member O [Gene - HGNC]
• GREM1:gremlin 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
• KATNBL1:katanin regulatory subunit B1 like 1 [Gene - OMIM - HGNC]
• MIR211:microRNA 211 [Gene - OMIM - HGNC]
• MTMR10:myotubularin related protein 10 [Gene - HGNC]
• PGBD4:piggyBac transposable element derived 4 [Gene - HGNC]
• RYR3:ryanodine receptor 3 [Gene - OMIM - HGNC]
• SCG5:secretogranin V [Gene - OMIM - HGNC]
• TJP1:tight junction protein 1 [Gene - OMIM - HGNC]
• TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

15q13.1-14

Genomic location:

Chr15: 28709714 - 34506805 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3

HGVS:

This HGVS expression did not pass validation