ClinVar

GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1

Genes:

• KDSR:3-ketodihydrosphingosine reductase [Gene - OMIM - HGNC]
• ADNP2:ADNP homeobox 2 [Gene - OMIM - HGNC]
• ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]
• ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
• BCL2:BCL2 apoptosis regulator [Gene - OMIM - HGNC]
• CD226:CD226 molecule [Gene - OMIM - HGNC]
• CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
• FBXO15:F-box protein 15 [Gene - OMIM - HGNC]
• MALT1:MALT1 paracaspase [Gene - OMIM - HGNC]
• NEDD4L:NEDD4 like E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
• PHLPP1:PH domain and leucine rich repeat protein phosphatase 1 [Gene - OMIM - HGNC]
• RELCH:RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing [Gene - OMIM - HGNC]
• SEC11C:SEC11 homolog C, signal peptidase complex subunit [Gene - HGNC]
• TNFRSF11A:TNF receptor superfamily member 11a [Gene - OMIM - HGNC]
• ALPK2:alpha kinase 2 [Gene - HGNC]
• CDH19:cadherin 19 [Gene - OMIM - HGNC]
• CDH20:cadherin 20 [Gene - OMIM - HGNC]
• CDH7:cadherin 7 [Gene - OMIM - HGNC]
• CNDP1:carnosine dipeptidase 1 [Gene - OMIM - HGNC]
• CNDP2:carnosine dipeptidase 2 [Gene - OMIM - HGNC]
• CBLN2:cerebellin 2 precursor [Gene - OMIM - HGNC]
• C18orf63:chromosome 18 open reading frame 63 [Gene - HGNC]
• CCDC102B:coiled-coil domain containing 102B [Gene - HGNC]
• CCBE1:collagen and calcium binding EGF domains 1 [Gene - OMIM - HGNC]
• CPLX4:complexin 4 [Gene - OMIM - HGNC]
• CYB5A:cytochrome b5 type A [Gene - OMIM - HGNC]
• DSEL:dermatan sulfate epimerase like [Gene - OMIM - HGNC]
• DIPK1C:divergent protein kinase domain 1C [Gene - OMIM - HGNC]
• DOK6:docking protein 6 [Gene - OMIM - HGNC]
• GALR1:galanin receptor 1 [Gene - OMIM - HGNC]
• GRP:gastrin releasing peptide [Gene - OMIM - HGNC]
• HSBP1L1:heat shock factor binding protein 1 like 1 [Gene - HGNC]
• HMSD:histocompatibility minor serpin domain containing [Gene - OMIM - HGNC]
• LMAN1:lectin, mannose binding 1 [Gene - OMIM - HGNC]
• LINC01879:long intergenic non-protein coding RNA 1879 [Gene - HGNC]
• LINC00683:long intergenic non-protein coding RNA 683 [Gene - HGNC]
• MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
• MIR122:microRNA 122 [Gene - OMIM - HGNC]
• MBP:myelin basic protein [Gene - OMIM - HGNC]
• NETO1:neuropilin and tolloid like 1 [Gene - OMIM - HGNC]
• NFATC1:nuclear factor of activated T cells 1 [Gene - OMIM - HGNC]
• PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM - HGNC]
• PMAIP1:phorbol-12-myristate-13-acetate-induced protein 1 [Gene - OMIM - HGNC]
• PIGN:phosphatidylinositol glycan anchor biosynthesis class N [Gene - OMIM - HGNC]
• KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
• PTGR3:prostaglandin reductase 3 [Gene - HGNC]
• RAX:retina and anterior neural fold homeobox [Gene - OMIM - HGNC]
• RBFA:ribosome binding factor A [Gene - HGNC]
• RNF152:ring finger protein 152 [Gene - OMIM - HGNC]
• RTTN:rotatin [Gene - OMIM - HGNC]
• SERPINB10:serpin family B member 10 [Gene - OMIM - HGNC]
• SERPINB11:serpin family B member 11 [Gene - OMIM - HGNC]
• SERPINB12:serpin family B member 12 [Gene - OMIM - HGNC]
• SERPINB13:serpin family B member 13 [Gene - OMIM - HGNC]
• SERPINB2:serpin family B member 2 [Gene - OMIM - HGNC]
• SERPINB3:serpin family B member 3 [Gene - OMIM - HGNC]
• SERPINB4:serpin family B member 4 [Gene - OMIM - HGNC]
• SERPINB5:serpin family B member 5 [Gene - OMIM - HGNC]
• SERPINB7:serpin family B member 7 [Gene - OMIM - HGNC]
• SERPINB8:serpin family B member 8 [Gene - OMIM - HGNC]
• SMIM21:small integral membrane protein 21 [Gene - HGNC]
• SLC66A2:solute carrier family 66 member 2 [Gene - HGNC]
• SALL3:spalt like transcription factor 3 [Gene - OMIM - HGNC]
• SOCS6:suppressor of cytokine signaling 6 [Gene - OMIM - HGNC]
• TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM - HGNC]
• TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
• TMX3:thioredoxin related transmembrane protein 3 [Gene - OMIM - HGNC]
• TIMM21:translocase of inner mitochondrial membrane 21 [Gene - OMIM - HGNC]
• VPS4B:vacuolar protein sorting 4 homolog B [Gene - OMIM - HGNC]
• ZCCHC2:zinc finger CCHC-type containing 2 [Gene - HGNC]
• ZNF236:zinc finger protein 236 [Gene - OMIM - HGNC]
• ZNF407:zinc finger protein 407 [Gene - OMIM - HGNC]
• ZNF516:zinc finger protein 516 [Gene - OMIM - HGNC]
• ZNF532:zinc finger protein 532 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

18q21.31-23

Genomic location:

Chr18: 55298900 - 78014123 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1

HGVS:

NC_000018.9:g.(?_55298900)_(78014123_?)del

This HGVS expression did not pass validation