ClinVar

GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1

Genes:

• HIBCH:3-hydroxyisobutyryl-CoA hydrolase [Gene - OMIM - HGNC]
• ATP5MC3:ATP synthase membrane subunit c locus 3 [Gene - OMIM - HGNC]
• CWC22:CWC22 spliceosome associated protein homolog [Gene - OMIM - HGNC]
• DNAJC10:DnaJ heat shock protein family (Hsp40) member C10 [Gene - OMIM - HGNC]
• FKBP7:FKBP prolyl isomerase 7 [Gene - OMIM - HGNC]
• GPR155:G protein-coupled receptor 155 [Gene - HGNC]
• GULP1:GULP PTB domain containing engulfment adaptor 1 [Gene - OMIM - HGNC]
• ITPRID2:ITPR interacting domain containing 2 [Gene - OMIM - HGNC]
• NCKAP1:NCK associated protein 1 [Gene - OMIM - HGNC]
• NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]
• NAB1:NGFI-A binding protein 1 [Gene - OMIM - HGNC]
• OSGEPL1:O-sialoglycoprotein endopeptidase like 1 [Gene - OMIM - HGNC]
• ORMDL1:ORMDL sphingolipid biosynthesis regulator 1 [Gene - OMIM - HGNC]
• OLA1:Obg like ATPase 1 [Gene - OMIM - HGNC]
• PCGEM1:PCGEM1 prostate-specific transcript [Gene - OMIM - HGNC]
• PMS1:PMS1 homolog 1, mismatch repair system component [Gene - OMIM - HGNC]
• RBM45:RNA binding motif protein 45 [Gene - OMIM - HGNC]
• SESTD1:SEC14 and spectrin domain containing 1 [Gene - HGNC]
• SP3:Sp3 transcription factor [Gene - OMIM - HGNC]
• SP9:Sp9 transcription factor [Gene - HGNC]
• WIPF1:WAS/WASL interacting protein family member 1 [Gene - OMIM - HGNC]
• WDR75:WD repeat domain 75 [Gene - OMIM - HGNC]
• ATF2:activating transcription factor 2 [Gene - OMIM - HGNC]
• AGPS:alkylglycerone phosphate synthase [Gene - OMIM - HGNC]
• ANKAR:ankyrin and armadillo repeat containing [Gene - OMIM - HGNC]
• ASNSD1:asparagine synthetase domain containing 1 [Gene - OMIM - HGNC]
• CALCRL:calcitonin receptor like receptor [Gene - OMIM - HGNC]
• CAVIN2:caveolae associated protein 2 [Gene - OMIM - HGNC]
• CERKL:ceramide kinase like [Gene - OMIM - HGNC]
• CHN1:chimerin 1 [Gene - OMIM - HGNC]
• CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]
• C2orf88:chromosome 2 open reading frame 88 [Gene - OMIM - HGNC]
• CCDC141:coiled-coil domain containing 141 [Gene - OMIM - HGNC]
• COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
• COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]
• CIR1:corepressor interacting with RBPJ, CIR1 [Gene - OMIM - HGNC]
• DIRC1:disrupted in renal carcinoma 1 [Gene - OMIM - HGNC]
• DUSP19:dual specificity phosphatase 19 [Gene - OMIM - HGNC]
• EVX2:even-skipped homeobox 2 [Gene - OMIM - HGNC]
• FAM171B:family with sequence similarity 171 member B [Gene - OMIM - HGNC]
• FSIP2:fibrous sheath interacting protein 2 [Gene - OMIM - HGNC]
• FRZB:frizzled related protein [Gene - OMIM - HGNC]
• GLS:glutaminase [Gene - OMIM - HGNC]
• HNRNPA3:heterogeneous nuclear ribonucleoprotein A3 [Gene - OMIM - HGNC]
• HOXD10:homeobox D10 [Gene - OMIM - HGNC]
• HOXD11:homeobox D11 [Gene - OMIM - HGNC]
• HOXD12:homeobox D12 [Gene - OMIM - HGNC]
• HOXD13:homeobox D13 [Gene - OMIM - HGNC]
• HOXD1:homeobox D1 [Gene - OMIM - HGNC]
• HOXD3:homeobox D3 [Gene - OMIM - HGNC]
• HOXD4:homeobox D4 [Gene - OMIM - HGNC]
• HOXD8:homeobox D8 [Gene - OMIM - HGNC]
• HOXD9:homeobox D9 [Gene - OMIM - HGNC]
• INPP1:inositol polyphosphate-1-phosphatase [Gene - OMIM - HGNC]
• ITGA4:integrin subunit alpha 4 [Gene - OMIM - HGNC]
• ITGAV:integrin subunit alpha V [Gene - OMIM - HGNC]
• IFT70A:intraflagellar transport 70A [Gene - HGNC]
• IFT70B:intraflagellar transport 70B [Gene - HGNC]
• LNPK:lunapark, ER junction formation factor [Gene - OMIM - HGNC]
• MFSD6:major facilitator superfamily domain containing 6 [Gene - OMIM - HGNC]
• MTX2:metaxin 2 [Gene - OMIM - HGNC]
• MIR10B:microRNA 10b [Gene - OMIM - HGNC]
• MIR1258:microRNA 1258 [Gene - OMIM - HGNC]
• MYO1B:myosin IB [Gene - OMIM - HGNC]
• MSTN:myostatin [Gene - OMIM - HGNC]
• NEUROD1:neuronal differentiation 1 [Gene - OMIM - HGNC]
• NEMP2:nuclear envelope integral membrane protein 2 [Gene - OMIM - HGNC]
• NABP1:nucleic acid binding protein 1 [Gene - OMIM - HGNC]
• NUP35:nucleoporin 35 [Gene - OMIM - HGNC]
• OSBPL6:oxysterol binding protein like 6 [Gene - OMIM - HGNC]
• PJVK:pejvakin [Gene - OMIM - HGNC]
• PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
• PDE1A:phosphodiesterase 1A [Gene - OMIM - HGNC]
• PLEKHA3:pleckstrin homology domain containing A3 [Gene - OMIM - HGNC]
• PRKRA:protein activator of interferon induced protein kinase EIF2AK2 [Gene - OMIM - HGNC]
• PPP1R1C:protein phosphatase 1 regulatory inhibitor subunit 1C [Gene - OMIM - HGNC]
• SCRN3:secernin 3 [Gene - OMIM - HGNC]
• STAT1:signal transducer and activator of transcription 1 [Gene - OMIM - HGNC]
• STAT4:signal transducer and activator of transcription 4 [Gene - OMIM - HGNC]
• SLC40A1:solute carrier family 40 member 1 [Gene - OMIM - HGNC]
• TFPI:tissue factor pathway inhibitor [Gene - OMIM - HGNC]
• TTN:titin [Gene - OMIM - HGNC]
• TMEFF2:transmembrane protein with EGF like and two follistatin like domains 2 [Gene - OMIM - HGNC]
• UBE2E3:ubiquitin conjugating enzyme E2 E3 [Gene - OMIM - HGNC]
• ZC3H15:zinc finger CCCH-type containing 15 [Gene - OMIM - HGNC]
• ZSWIM2:zinc finger SWIM-type containing 2 [Gene - HGNC]
• ZNF385B:zinc finger protein 385B [Gene - OMIM - HGNC]
• ZNF804A:zinc finger protein 804A [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q31.1-32.3

Genomic location:

Chr2: 174690039 - 195521582 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1

HGVS:

NC_000002.11:g.(?_174690039)_(195521582_?)del

This HGVS expression did not pass validation