ClinVar

GRCh37/hg19 16p13.3(chr16:85880-1875694)x1

Genes:

• DECR2:2,4-dienoyl-CoA reductase 2 [Gene - OMIM - HGNC]
• BAIAP3:BAI1 associated protein 3 [Gene - OMIM - HGNC]
• C1QTNF8:C1q and TNF related 8 [Gene - OMIM - HGNC]
• FBXL16:F-box and leucine rich repeat protein 16 [Gene - OMIM - HGNC]
• GNG13:G protein subunit gamma 13 [Gene - OMIM - HGNC]
• JPT2:Jupiter microtubule associated homolog 2 [Gene - OMIM - HGNC]
• LUC7L:LUC7 like [Gene - OMIM - HGNC]
• MCRIP2:MAPK regulated corepressor interacting protein 2 [Gene - HGNC]
• GNPTG:N-acetylglucosamine-1-phosphate transferase subunit gamma [Gene - OMIM - HGNC]
• MPG:N-methylpurine DNA glycosylase [Gene - OMIM - HGNC]
• NHLRC4:NHL repeat containing 4 [Gene - HGNC]
• NME3:NME/NM23 nucleoside diphosphate kinase 3 [Gene - OMIM - HGNC]
• NME4:NME/NM23 nucleoside diphosphate kinase 4 [Gene - OMIM - HGNC]
• NPRL3:NPR3 like, GATOR1 complex subunit [Gene - OMIM - HGNC]
• NUBP2:NUBP iron-sulfur cluster assembly factor 2, cytosolic [Gene - OMIM - HGNC]
• RAB11FIP3:RAB11 family interacting protein 3 [Gene - OMIM - HGNC]
• RAB40C:RAB40C, member RAS oncogene family [Gene - OMIM - HGNC]
• POLR3K:RNA polymerase III subunit K [Gene - OMIM - HGNC]
• RPUSD1:RNA pseudouridine synthase domain containing 1 [Gene - HGNC]
• ARHGDIG:Rho GDP dissociation inhibitor gamma [Gene - OMIM - HGNC]
• SOX8:SRY-box transcription factor 8 [Gene - OMIM - HGNC]
• STUB1:STIP1 homology and U-box containing protein 1 [Gene - OMIM - HGNC]
• TSR3:TSR3 ribosome maturation factor [Gene - OMIM - HGNC]
• WFIKKN1:WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 [Gene - OMIM - HGNC]
• WDR24:WD repeat domain 24 [Gene - HGNC]
• WDR90:WD repeat domain 90 [Gene - OMIM - HGNC]
• ANTKMT:adenine nucleotide translocase lysine methyltransferase [Gene - OMIM - HGNC]
• AXIN1:axin 1 [Gene - OMIM - HGNC]
• CACNA1H:calcium voltage-gated channel subunit alpha1 H [Gene - OMIM - HGNC]
• CAPN15:calpain 15 [Gene - OMIM - HGNC]
• CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]
• C16orf91:chromosome 16 open reading frame 91 [Gene - HGNC]
• CHTF18:chromosome transmission fidelity factor 18 [Gene - OMIM - HGNC]
• CCDC154:coiled-coil domain containing 154 [Gene - OMIM - HGNC]
• CCDC78:coiled-coil domain containing 78 [Gene - OMIM - HGNC]
• CRAMP1:cramped chromatin regulator homolog 1 [Gene - HGNC]
• CIAO3:cytosolic iron-sulfur assembly component 3 [Gene - OMIM - HGNC]
• EME2:essential meiotic structure-specific endonuclease subunit 2 [Gene - OMIM - HGNC]
• FAM234A:family with sequence similarity 234 member A [Gene - HGNC]
• HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
• HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
• HBM:hemoglobin subunit mu [Gene - OMIM - HGNC]
• HBQ1:hemoglobin subunit theta 1 [Gene - OMIM - HGNC]
• HBZ:hemoglobin subunit zeta [Gene - OMIM - HGNC]
• HAGHL:hydroxyacylglutathione hydrolase like [Gene - HGNC]
• HAGH:hydroxyacylglutathione hydrolase [Gene - OMIM - HGNC]
• IGFALS:insulin like growth factor binding protein acid labile subunit [Gene - OMIM - HGNC]
• IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
• JMJD8:jumonji domain containing 8 [Gene - HGNC]
• LMF1:lipase maturation factor 1 [Gene - OMIM - HGNC]
• MSLN:mesothelin [Gene - OMIM - HGNC]
• METRN:meteorin, glial cell differentiation regulator [Gene - OMIM - HGNC]
• METTL26:methyltransferase like 26 [Gene - HGNC]
• MRPL28:mitochondrial ribosomal protein L28 [Gene - OMIM - HGNC]
• MRPS34:mitochondrial ribosomal protein S34 [Gene - OMIM - HGNC]
• MAPK8IP3:mitogen-activated protein kinase 8 interacting protein 3 [Gene - OMIM - HGNC]
• PTX4:pentraxin 4 [Gene - OMIM - HGNC]
• PIGQ:phosphatidylinositol glycan anchor biosynthesis class Q [Gene - OMIM - HGNC]
• PGAP6:post-GPI attachment to proteins 6 [Gene - OMIM - HGNC]
• PRR25:proline rich 25 [Gene - HGNC]
• PRR35:proline rich 35 [Gene - HGNC]
• PDIA2:protein disulfide isomerase family A member 2 [Gene - OMIM - HGNC]
• RHOT2:ras homolog family member T2 [Gene - OMIM - HGNC]
• RGS11:regulator of G protein signaling 11 [Gene - OMIM - HGNC]
• RHBDF1:rhomboid 5 homolog 1 [Gene - OMIM - HGNC]
• RHBDL1:rhomboid like 1 [Gene - OMIM - HGNC]
• SNRNP25:small nuclear ribonucleoprotein U11/U12 subunit 25 [Gene - HGNC]
• SSTR5:somatostatin receptor 5 [Gene - OMIM - HGNC]
• SPSB3:splA/ryanodine receptor domain and SOCS box containing 3 [Gene - OMIM - HGNC]
• TELO2:telomere maintenance 2 [Gene - OMIM - HGNC]
• TMEM204:transmembrane protein 204 [Gene - OMIM - HGNC]
• TPSAB1:tryptase alpha/beta 1 [Gene - OMIM - HGNC]
• TPSB2:tryptase beta 2 [Gene - OMIM - HGNC]
• TPSD1:tryptase delta 1 [Gene - OMIM - HGNC]
• TPSG1:tryptase gamma 1 [Gene - OMIM - HGNC]
• UBE2I:ubiquitin conjugating enzyme E2 I [Gene - OMIM - HGNC]
• UNKL:unk like zinc finger [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

16p13.3

Genomic location:

Chr16: 85880 - 1875694 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16p13.3(chr16:85880-1875694)x1

HGVS:

NC_000016.9:g.(?_85880)_(1875694_?)del

This HGVS expression did not pass validation