ClinVar

GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1

Genes:

• EMID1:EMI domain containing 1 [Gene - OMIM - HGNC]
• EWSR1:EWS RNA binding protein 1 [Gene - OMIM - HGNC]
• HSCB:HscB mitochondrial iron-sulfur cluster cochaperone [Gene - OMIM - HGNC]
• NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
• RASL10A:RAS like family 10 member A [Gene - OMIM - HGNC]
• RFPL1S:RFPL1 antisense RNA 1 [Gene - OMIM - HGNC]
• THOC5:THO complex subunit 5 [Gene - OMIM - HGNC]
• XBP1:X-box binding protein 1 [Gene - OMIM - HGNC]
• ASCC2:activating signal cointegrator 1 complex subunit 2 [Gene - OMIM - HGNC]
• AP1B1:adaptor related protein complex 1 subunit beta 1 [Gene - OMIM - HGNC]
• CABP7:calcium binding protein 7 [Gene - OMIM - HGNC]
• CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
• C22orf31:chromosome 22 open reading frame 31 [Gene - HGNC]
• CCDC117:coiled-coil domain containing 117 [Gene - HGNC]
• GAS2L1:growth arrest specific 2 like 1 [Gene - OMIM - HGNC]
• KREMEN1:kringle containing transmembrane protein 1 [Gene - OMIM - HGNC]
• MTMR3:myotubularin related protein 3 [Gene - OMIM - HGNC]
• NEFH:neurofilament heavy chain [Gene - OMIM - HGNC]
• NIPSNAP1:nipsnap homolog 1 [Gene - OMIM - HGNC]
• PITPNB:phosphatidylinositol transfer protein beta [Gene - OMIM - HGNC]
• RFPL1:ret finger protein like 1 [Gene - OMIM - HGNC]
• RHBDD3:rhomboid domain containing 3 [Gene - HGNC]
• TTC28:tetratricopeptide repeat domain 28 [Gene - OMIM - HGNC]
• UQCR10:ubiquinol-cytochrome c reductase, complex III subunit X [Gene - OMIM - HGNC]
• ZNRF3:zinc and ring finger 3 [Gene - OMIM - HGNC]
• ZMAT5:zinc finger matrin-type 5 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

22q12.1-12.2

Genomic location:

Chr22: 28291202 - 30450920 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1

HGVS:

NC_000022.10:g.(?_28291202)_(30450920_?)del

This HGVS expression did not pass validation