ClinVar

GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1

Genes:

• ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]
• BBS5:Bardet-Biedl syndrome 5 [Gene - OMIM - HGNC]
• CD302:CD302 molecule [Gene - OMIM - HGNC]
• DCAF17:DDB1 and CUL4 associated factor 17 [Gene - OMIM - HGNC]
• FASTKD1:FAST kinase domains 1 [Gene - OMIM - HGNC]
• LRP2:LDL receptor related protein 2 [Gene - OMIM - HGNC]
• LY75-CD302:LY75-CD302 readthrough [Gene - HGNC]
• RBMS1:RNA binding motif single stranded interacting protein 1 [Gene - OMIM - HGNC]
• RAPGEF4:Rap guanine nucleotide exchange factor 4 [Gene - OMIM - HGNC]
• SPC25:SPC25 component of NDC80 kinetochore complex [Gene - OMIM - HGNC]
• SP5:Sp5 transcription factor [Gene - OMIM - HGNC]
• TBR1:T-box brain transcription factor 1 [Gene - OMIM - HGNC]
• TANK:TRAF family member associated NFKB activator [Gene - OMIM - HGNC]
• B3GALT1:beta-1,3-galactosyltransferase 1 [Gene - OMIM - HGNC]
• BAZ2B:bromodomain adjacent to zinc finger domain 2B [Gene - OMIM - HGNC]
• CERS6:ceramide synthase 6 [Gene - OMIM - HGNC]
• CFAP210:cilia and flagella associated protein 210 [Gene - HGNC]
• COBLL1:cordon-bleu WH2 repeat protein like 1 [Gene - OMIM - HGNC]
• CSRNP3:cysteine and serine rich nuclear protein 3 [Gene - HGNC]
• CYBRD1:cytochrome b reductase 1 [Gene - OMIM - HGNC]
• DHRS9:dehydrogenase/reductase 9 [Gene - OMIM - HGNC]
• DPP4:dipeptidyl peptidase 4 [Gene - OMIM - HGNC]
• DLX1:distal-less homeobox 1 [Gene - OMIM - HGNC]
• DLX2:distal-less homeobox 2 [Gene - OMIM - HGNC]
• DYNC1I2:dynein cytoplasmic 1 intermediate chain 2 [Gene - OMIM - HGNC]
• FAP:fibroblast activation protein alpha [Gene - OMIM - HGNC]
• FIGN:fidgetin, microtubule severing factor [Gene - OMIM - HGNC]
• GCG:glucagon [Gene - OMIM - HGNC]
• G6PC2:glucose-6-phosphatase catalytic subunit 2 [Gene - OMIM - HGNC]
• GAD1:glutamate decarboxylase 1 [Gene - OMIM - HGNC]
• ERICH2:glutamate rich 2 [Gene - HGNC]
• GORASP2:golgi reassembly stacking protein 2 [Gene - OMIM - HGNC]
• GCA:grancalcin [Gene - OMIM - HGNC]
• GRB14:growth factor receptor bound protein 14 [Gene - OMIM - HGNC]
• HAT1:histone acetyltransferase 1 [Gene - OMIM - HGNC]
• ITGA6:integrin subunit alpha 6 [Gene - OMIM - HGNC]
• ITGB6:integrin subunit beta 6 [Gene - OMIM - HGNC]
• IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]
• KLHL23:kelch like family member 23 [Gene - HGNC]
• KLHL41:kelch like family member 41 [Gene - OMIM - HGNC]
• LY75:lymphocyte antigen 75 [Gene - OMIM - HGNC]
• MARCHF7:membrane associated ring-CH-type finger 7 [Gene - OMIM - HGNC]
• METAP1D:methionyl aminopeptidase type 1D, mitochondrial [Gene - OMIM - HGNC]
• METTL5:methyltransferase 5, N6-adenosine [Gene - OMIM - HGNC]
• METTL8:methyltransferase 8, methylcytidine [Gene - OMIM - HGNC]
• MAP3K20:mitogen-activated protein kinase kinase kinase 20 [Gene - OMIM - HGNC]
• MYO3B:myosin IIIB [Gene - OMIM - HGNC]
• NOSTRIN:nitric oxide synthase trafficking [Gene - OMIM - HGNC]
• PPIG:peptidylprolyl isomerase G [Gene - OMIM - HGNC]
• PHOSPHO2:phosphatase, orphan 2 [Gene - HGNC]
• PLA2R1:phospholipase A2 receptor 1 [Gene - OMIM - HGNC]
• GALNT3:polypeptide N-acetylgalactosaminyltransferase 3 [Gene - OMIM - HGNC]
• KCNH7:potassium voltage-gated channel subfamily H member 7 [Gene - OMIM - HGNC]
• PSMD14:proteasome 26S subunit, non-ATPase 14 [Gene - OMIM - HGNC]
• PDK1:pyruvate dehydrogenase kinase 1 [Gene - OMIM - HGNC]
• STK39:serine/threonine kinase 39 [Gene - OMIM - HGNC]
• SSB:small RNA binding exonuclease protection factor La [Gene - OMIM - HGNC]
• SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
• SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
• SCN3A:sodium voltage-gated channel alpha subunit 3 [Gene - OMIM - HGNC]
• SCN7A:sodium voltage-gated channel alpha subunit 7 [Gene - OMIM - HGNC]
• SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
• SLC25A12:solute carrier family 25 member 12 [Gene - OMIM - HGNC]
• SLC38A11:solute carrier family 38 member 11 [Gene - OMIM - HGNC]
• SLC4A10:solute carrier family 4 member 10 [Gene - OMIM - HGNC]
• TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC]
• TLK1:tousled like kinase 1 [Gene - OMIM - HGNC]
• UBR3:ubiquitin protein ligase E3 component n-recognin 3 [Gene - OMIM - HGNC]
• XIRP2:xin actin binding repeat containing 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q24.2-31.1

Genomic location:

Chr2: 160347642 - 174075851 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1

HGVS:

NC_000002.11:g.(?_160347642)_(174075851_?)del

This HGVS expression did not pass validation