ClinVar

GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1

Genes:

• ARL14EPL:ADP ribosylation factor like GTPase 14 effector protein like [Gene - HGNC]
• APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
• COMMD10:COMM domain containing 10 [Gene - OMIM - HGNC]
• DTWD2:DTW domain containing 2 [Gene - HGNC]
• DMXL1:Dmx like 1 [Gene - OMIM - HGNC]
• FBXL17:F-box and leucine rich repeat protein 17 [Gene - OMIM - HGNC]
• FER:FER tyrosine kinase [Gene - OMIM - HGNC]
• GPR150:G protein-coupled receptor 150 [Gene - HGNC]
• KIAA0825:KIAA0825 [Gene - OMIM - HGNC]
• MCC:MCC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
• PRDM6:PR/SET domain 6 [Gene - OMIM - HGNC]
• RIOK2:RIO kinase 2 [Gene - OMIM - HGNC]
• RHOBTB3:Rho related BTB domain containing 3 [Gene - OMIM - HGNC]
• RFESD:Rieske Fe-S domain containing [Gene - HGNC]
• SKIC3:SKI3 subunit of superkiller complex [Gene - OMIM - HGNC]
• SLF1:SMC5-SMC6 complex localization factor 1 [Gene - OMIM - HGNC]
• ST8SIA4:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 [Gene - OMIM - HGNC]
• STARD4:StAR related lipid transfer domain containing 4 [Gene - OMIM - HGNC]
• TICAM2:TIR domain containing adaptor molecule 2 [Gene - OMIM - HGNC]
• TMED7-TICAM2:TMED7-TICAM2 readthrough [Gene - HGNC]
• TNFAIP8:TNF alpha induced protein 8 [Gene - OMIM - HGNC]
• WDR36:WD repeat domain 36 [Gene - OMIM - HGNC]
• YTHDC2:YTH N6-methyladenosine RNA binding protein C2 [Gene - OMIM - HGNC]
• AP3S1:adaptor related protein complex 3 subunit sigma 1 [Gene - OMIM - HGNC]
• ARSK:arylsulfatase family member K [Gene - OMIM - HGNC]
• ATG12:autophagy related 12 [Gene - OMIM - HGNC]
• CAMK4:calcium/calmodulin dependent protein kinase IV [Gene - OMIM - HGNC]
• CAST:calpastatin [Gene - OMIM - HGNC]
• CSNK1G3:casein kinase 1 gamma 3 [Gene - OMIM - HGNC]
• CEP120:centrosomal protein 120 [Gene - OMIM - HGNC]
• CHD1:chromodomain helicase DNA binding protein 1 [Gene - OMIM - HGNC]
• CCDC112:coiled-coil domain containing 112 [Gene - HGNC]
• CDO1:cysteine dioxygenase type 1 [Gene - OMIM - HGNC]
• DCP2:decapping mRNA 2 [Gene - OMIM - HGNC]
• PPIP5K2:diphosphoinositol pentakisphosphate kinase 2 [Gene - OMIM - HGNC]
• ELL2:elongation factor for RNA polymerase II 2 [Gene - OMIM - HGNC]
• ERAP1:endoplasmic reticulum aminopeptidase 1 [Gene - OMIM - HGNC]
• ERAP2:endoplasmic reticulum aminopeptidase 2 [Gene - OMIM - HGNC]
• EFNA5:ephrin A5 [Gene - OMIM - HGNC]
• EPB41L4A:erythrocyte membrane protein band 4.1 like 4A [Gene - OMIM - HGNC]
• FAM170A:family with sequence similarity 170 member A [Gene - OMIM - HGNC]
• FAM174A:family with sequence similarity 174 member A [Gene - HGNC]
• FAM81B:family with sequence similarity 81 member B [Gene - HGNC]
• FEM1C:fem-1 homolog C [Gene - OMIM - HGNC]
• FTMT:ferritin mitochondrial [Gene - OMIM - HGNC]
• GLRX:glutaredoxin [Gene - OMIM - HGNC]
• GIN1:gypsy retrotransposon integrase 1 [Gene - HGNC]
• HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
• LVRN:laeverin [Gene - OMIM - HGNC]
• LNPEP:leucyl and cystinyl aminopeptidase [Gene - OMIM - HGNC]
• LIX1:limb and CNS expressed 1 [Gene - OMIM - HGNC]
• LOX:lysyl oxidase [Gene - OMIM - HGNC]
• MACIR:macrophage immunometabolism regulator [Gene - OMIM - HGNC]
• MAN2A1:mannosidase alpha class 2A member 1 [Gene - OMIM - HGNC]
• MCTP1:multiple C2 and transmembrane domain containing 1 [Gene - OMIM - HGNC]
• NREP:neuronal regeneration related protein [Gene - OMIM - HGNC]
• NUDT12:nudix hydrolase 12 [Gene - OMIM - HGNC]
• PAM:peptidylglycine alpha-amidating monooxygenase [Gene - OMIM - HGNC]
• PPIC:peptidylprolyl isomerase C [Gene - OMIM - HGNC]
• KCNN2:potassium calcium-activated channel subfamily N member 2 [Gene - OMIM - HGNC]
• PJA2:praja ring finger ubiquitin ligase 2 [Gene - OMIM - HGNC]
• PRR16:proline rich 16 [Gene - OMIM - HGNC]
• PCSK1:proprotein convertase subtilisin/kexin type 1 [Gene - OMIM - HGNC]
• PGGT1B:protein geranylgeranyltransferase type I subunit beta [Gene - OMIM - HGNC]
• REEP5:receptor accessory protein 5 [Gene - OMIM - HGNC]
• RGMB:repulsive guidance molecule BMP co-receptor b [Gene - OMIM - HGNC]
• SEMA6A:semaphorin 6A [Gene - OMIM - HGNC]
• SRFBP1:serum response factor binding protein 1 [Gene - OMIM - HGNC]
• SRP19:signal recognition particle 19 [Gene - OMIM - HGNC]
• SLC25A46:solute carrier family 25 member 46 [Gene - OMIM - HGNC]
• SLCO4C1:solute carrier organic anion transporter family member 4C1 [Gene - OMIM - HGNC]
• SLCO6A1:solute carrier organic anion transporter family member 6A1 [Gene - OMIM - HGNC]
• SNX24:sorting nexin 24 [Gene - HGNC]
• SNX2:sorting nexin 2 [Gene - OMIM - HGNC]
• SPATA9:spermatogenesis associated 9 [Gene - OMIM - HGNC]
• SNCAIP:synuclein alpha interacting protein [Gene - OMIM - HGNC]
• TSSK1B:testis specific serine kinase 1B [Gene - OMIM - HGNC]
• TSLP:thymic stromal lymphopoietin [Gene - OMIM - HGNC]
• TMED7:transmembrane p24 trafficking protein 7 [Gene - OMIM - HGNC]
• TMEM232:transmembrane protein 232 [Gene - OMIM - HGNC]
• TRIM36:tripartite motif containing 36 [Gene - OMIM - HGNC]
• ZNF474:zinc finger protein 474 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

5q15-23.2

Genomic location:

Chr5: 93828571 - 123711334 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1

HGVS:

This HGVS expression did not pass validation

Observations:

1