ClinVar

GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1

Genes:

• MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]
• ADAMTS16:ADAM metallopeptidase with thrombospondin type 1 motif 16 [Gene - OMIM - HGNC]
• ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
• ATPSCKMT:ATP synthase c subunit lysine N-methyltransferase [Gene - OMIM - HGNC]
• CLPTM1L:CLPTM1 like [Gene - OMIM - HGNC]
• EXOC3-AS1:EXOC3 antisense RNA 1 [Gene - HGNC]
• FBXL7:F-box and leucine rich repeat protein 7 [Gene - OMIM - HGNC]
• FASTKD3:FAST kinase domains 3 [Gene - OMIM - HGNC]
• IRX2-DT:IRX2 divergent transcript [Gene - OMIM - HGNC]
• NDUFS6:NADH:ubiquinone oxidoreductase subunit S6 [Gene - OMIM - HGNC]
• NKD2:NKD inhibitor of WNT signaling pathway 2 [Gene - OMIM - HGNC]
• NSUN2:NOP2/Sun RNA methyltransferase 2 [Gene - OMIM - HGNC]
• OTULINL:OTU deubiquitinase with linear linkage specificity like [Gene - HGNC]
• OTULIN:OTU deubiquitinase with linear linkage specificity [Gene - OMIM - HGNC]
• OTULIN-DT:OTULIN divergent transcript [Gene - HGNC]
• PRDM9:PR/SET domain 9 [Gene - OMIM - HGNC]
• ADCY2:adenylate cyclase 2 [Gene - OMIM - HGNC]
• ANKRD33B:ankyrin repeat domain 33B [Gene - HGNC]
• AHRR:aryl hydrocarbon receptor repressor [Gene - OMIM - HGNC]
• BASP1:brain abundant membrane attached signal protein 1 [Gene - OMIM - HGNC]
• BRD9:bromodomain containing 9 [Gene - OMIM - HGNC]
• CDH10:cadherin 10 [Gene - OMIM - HGNC]
• CDH12:cadherin 12 [Gene - OMIM - HGNC]
• CDH18:cadherin 18 [Gene - OMIM - HGNC]
• CDH9:cadherin 9 [Gene - OMIM - HGNC]
• CMBL:carboxymethylenebutenolidase homolog [Gene - OMIM - HGNC]
• CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
• CEP72:centrosomal protein 72 [Gene - OMIM - HGNC]
• CCT5:chaperonin containing TCP1 subunit 5 [Gene - OMIM - HGNC]
• CFAP90:cilia and flagella associated protein 90 [Gene - HGNC]
• CCDC127:coiled-coil domain containing 127 [Gene - HGNC]
• DAP:death associated protein [Gene - OMIM - HGNC]
• DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
• EXOC3:exocyst complex component 3 [Gene - OMIM - HGNC]
• ICE1:interactor of little elongation complex ELL subunit 1 [Gene - OMIM - HGNC]
• IRX1:iroquois homeobox 1 [Gene - OMIM - HGNC]
• IRX2:iroquois homeobox 2 [Gene - OMIM - HGNC]
• IRX4:iroquois homeobox 4 [Gene - OMIM - HGNC]
• LRRC14B:leucine rich repeat containing 14B [Gene - HGNC]
• LINC01194:long intergenic non-protein coding RNA 1194 [Gene - OMIM - HGNC]
• LINC02899:long intergenic non-protein coding RNA 2899 [Gene - HGNC]
• LPCAT1:lysophosphatidylcholine acyltransferase 1 [Gene - OMIM - HGNC]
• MED10:mediator complex subunit 10 [Gene - OMIM - HGNC]
• MARCHF11:membrane associated ring-CH-type finger 11 [Gene - OMIM - HGNC]
• MARCHF6:membrane associated ring-CH-type finger 6 [Gene - OMIM - HGNC]
• MRPL36:mitochondrial ribosomal protein L36 [Gene - OMIM - HGNC]
• MYO10:myosin X [Gene - OMIM - HGNC]
• PLEKHG4B:pleckstrin homology and RhoGEF domain containing G4B [Gene - OMIM - HGNC]
• PDCD6:programmed cell death 6 [Gene - OMIM - HGNC]
• RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
• ROPN1L:rhophilin associated tail protein 1 like [Gene - OMIM - HGNC]
• SEMA5A:semaphorin 5A [Gene - OMIM - HGNC]
• SLC12A7:solute carrier family 12 member 7 [Gene - OMIM - HGNC]
• SLC6A18:solute carrier family 6 member 18 [Gene - OMIM - HGNC]
• SLC6A19:solute carrier family 6 member 19 [Gene - OMIM - HGNC]
• SLC6A3:solute carrier family 6 member 3 [Gene - OMIM - HGNC]
• SLC9A3:solute carrier family 9 member A3 [Gene - OMIM - HGNC]
• SRD5A1:steroid 5 alpha-reductase 1 [Gene - OMIM - HGNC]
• SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
• TAS2R1:taste 2 receptor member 1 [Gene - OMIM - HGNC]
• TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
• TENT4A:terminal nucleotidyltransferase 4A [Gene - OMIM - HGNC]
• TRIP13:thyroid hormone receptor interactor 13 [Gene - OMIM - HGNC]
• TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]
• TPPP:tubulin polymerization promoting protein [Gene - OMIM - HGNC]
• UBE2QL1:ubiquitin conjugating enzyme E2 QL1 [Gene - OMIM - HGNC]
• ZDHHC11:zinc finger DHHC-type containing 11 [Gene - HGNC]
• ZDHHC11B:zinc finger DHHC-type containing 11B [Gene - HGNC]
• ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

5p15.33-14.1

Genomic location:

Chr5: 113576 - 28300709 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1

HGVS:

This HGVS expression did not pass validation

Observations:

1