ClinVar

GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1

Genes:

• HECW2:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
• MOB4:MOB family member 4, phocein [Gene - OMIM - HGNC]
• SATB2:SATB homeobox 2 [Gene - OMIM - HGNC]
• ANKRD44:ankyrin repeat domain 44 [Gene - HGNC]
• BOLL:boule homolog, RNA binding protein [Gene - OMIM - HGNC]
• C2orf66:chromosome 2 open reading frame 66 [Gene - HGNC]
• C2orf69:chromosome 2 open reading frame 69 [Gene - OMIM - HGNC]
• COQ10B:coenzyme Q10B [Gene - OMIM - HGNC]
• CCDC150:coiled-coil domain containing 150 [Gene - HGNC]
• FTCDNL1:formiminotransferase cyclodeaminase N-terminal like [Gene - OMIM - HGNC]
• GTF3C3:general transcription factor IIIC subunit 3 [Gene - OMIM - HGNC]
• HSPD1:heat shock protein family D (Hsp60) member 1 [Gene - OMIM - HGNC]
• HSPE1:heat shock protein family E (Hsp10) member 1 [Gene - OMIM - HGNC]
• MAIP1:matrix AAA peptidase interacting protein 1 [Gene - OMIM - HGNC]
• MARS2:methionyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
• PLCL1:phospholipase C like 1 (inactive) [Gene - OMIM - HGNC]
• PGAP1:post-GPI attachment to proteins inositol deacylase 1 [Gene - OMIM - HGNC]
• KCTD18:potassium channel tetramerization domain containing 18 [Gene - HGNC]
• RFTN2:raftlin family member 2 [Gene - OMIM - HGNC]
• SPATS2L:spermatogenesis associated serine rich 2 like [Gene - OMIM - HGNC]
• SF3B1:splicing factor 3b subunit 1 [Gene - OMIM - HGNC]
• TYW5:tRNA-yW synthesizing protein 5 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q32.3-33.1

Genomic location:

Chr2: 197359024 - 201383462 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1

HGVS:

NC_000002.11:g.(?_197359024)_(201383462_?)del

This HGVS expression did not pass validation