ClinVar

GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)

Genes:

• ADAMTS14:ADAM metallopeptidase with thrombospondin type 1 motif 14 [Gene - OMIM - HGNC]
• AGAP5:ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 [Gene - HGNC]
• DDX21:DExD-box helicase 21 [Gene - OMIM - HGNC]
• DDX50:DExD-box helicase 50 [Gene - OMIM - HGNC]
• DDIT4:DNA damage inducible transcript 4 [Gene - OMIM - HGNC]
• DNA2:DNA replication helicase/nuclease 2 [Gene - OMIM - HGNC]
• DNAJB12:DnaJ heat shock protein family (Hsp40) member B12 [Gene - OMIM - HGNC]
• DNAJC12:DnaJ heat shock protein family (Hsp40) member C12 [Gene - OMIM - HGNC]
• DNAJC9:DnaJ heat shock protein family (Hsp40) member C9 [Gene - OMIM - HGNC]
• HERC4:HECT and RLD domain containing E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
• MSS51:MSS51 mitochondrial translational activator [Gene - OMIM - HGNC]
• NDST2:N-deacetylase and N-sulfotransferase 2 [Gene - OMIM - HGNC]
• RUFY2:RUN and FYVE domain containing 2 [Gene - OMIM - HGNC]
• SEC24C:SEC24 homolog C, COPII coat complex component [Gene - OMIM - HGNC]
• SPOCK2:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 [Gene - OMIM - HGNC]
• SUPV3L1:Suv3 like RNA helicase [Gene - OMIM - HGNC]
• VSIR:V-set immunoregulatory receptor [Gene - OMIM - HGNC]
• VPS26A:VPS26 retromer complex component A [Gene - OMIM - HGNC]
• ASCC1:activating signal cointegrator 1 complex subunit 1 [Gene - OMIM - HGNC]
• AP3M1:adaptor related protein complex 3 subunit mu 1 [Gene - OMIM - HGNC]
• ADK:adenosine kinase [Gene - OMIM - HGNC]
• ANAPC16:anaphase promoting complex subunit 16 [Gene - OMIM - HGNC]
• ANXA7:annexin A7 [Gene - OMIM - HGNC]
• AIFM2:apoptosis inducing factor mitochondria associated 2 [Gene - OMIM - HGNC]
• ATOH7:atonal bHLH transcription factor 7 [Gene - OMIM - HGNC]
• CDH23:cadherin related 23 [Gene - OMIM - HGNC]
• CAMK2G:calcium/calmodulin dependent protein kinase II gamma [Gene - OMIM - HGNC]
• CHST3:carbohydrate sulfotransferase 3 [Gene - OMIM - HGNC]
• COMTD1:catechol-O-methyltransferase domain containing 1 [Gene - HGNC]
• CTNNA3:catenin alpha 3 [Gene - OMIM - HGNC]
• CCAR1:cell division cycle and apoptosis regulator 1 [Gene - OMIM - HGNC]
• C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
• C10orf55:chromosome 10 putative open reading frame 55 [Gene - HGNC]
• CFAP70:cilia and flagella associated protein 70 [Gene - OMIM - HGNC]
• CHCHD1:coiled-coil-helix-coiled-coil-helix domain containing 1 [Gene - OMIM - HGNC]
• COL13A1:collagen type XIII alpha 1 chain [Gene - OMIM - HGNC]
• DUSP13B:dual specificity phosphatase 13B [Gene - OMIM - HGNC]
• DUSP29:dual specificity phosphatase 29 [Gene - OMIM - HGNC]
• ECD:ecdysoneless cell cycle regulator [Gene - OMIM - HGNC]
• EIF4EBP2:eukaryotic translation initiation factor 4E binding protein 2 [Gene - OMIM - HGNC]
• FAM149B1:family with sequence similarity 149 member B1 [Gene - OMIM - HGNC]
• FAM241B:family with sequence similarity 241 member B [Gene - HGNC]
• FUT11:fucosyltransferase 11 [Gene - OMIM - HGNC]
• HNRNPH3:heterogeneous nuclear ribonucleoprotein H3 [Gene - OMIM - HGNC]
• HK1:hexokinase 1 [Gene - OMIM - HGNC]
• HKDC1:hexokinase domain containing 1 [Gene - OMIM - HGNC]
• PPA1:inorganic pyrophosphatase 1 [Gene - OMIM - HGNC]
• KIFBP:kinesin family binding protein [Gene - OMIM - HGNC]
• LRMDA:leucine rich melanocyte differentiation associated [Gene - OMIM - HGNC]
• LRRC20:leucine rich repeat containing 20 [Gene - HGNC]
• LRRTM3:leucine rich repeat transmembrane neuronal 3 [Gene - OMIM - HGNC]
• KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
• MACROH2A2:macroH2A.2 histone [Gene - OMIM - HGNC]
• MCU:mitochondrial calcium uniporter [Gene - OMIM - HGNC]
• MICU1:mitochondrial calcium uptake 1 [Gene - OMIM - HGNC]
• MRPS16:mitochondrial ribosomal protein S16 [Gene - OMIM - HGNC]
• MYPN:myopalladin [Gene - OMIM - HGNC]
• MYOZ1:myozenin 1 [Gene - OMIM - HGNC]
• NEUROG3:neurogenin 3 [Gene - OMIM - HGNC]
• NPFFR1:neuropeptide FF receptor 1 [Gene - OMIM - HGNC]
• NODAL:nodal growth differentiation factor [Gene - OMIM - HGNC]
• NUDT13:nudix hydrolase 13 [Gene - OMIM - HGNC]
• OIT3:oncoprotein induced transcript 3 [Gene - OMIM - HGNC]
• PRF1:perforin 1 [Gene - OMIM - HGNC]
• PBLD:phenazine biosynthesis like protein domain containing [Gene - OMIM - HGNC]
• PALD1:phosphatase domain containing paladin 1 [Gene - OMIM - HGNC]
• PLA2G12B:phospholipase A2 group XIIB [Gene - OMIM - HGNC]
• PLAU:plasminogen activator, urokinase [Gene - OMIM - HGNC]
• KCNMA1:potassium calcium-activated channel subfamily M alpha 1 [Gene - OMIM - HGNC]
• P4HA1:prolyl 4-hydroxylase subunit alpha 1 [Gene - OMIM - HGNC]
• PSAP:prosaposin [Gene - OMIM - HGNC]
• PPP3CB:protein phosphatase 3 catalytic subunit beta [Gene - OMIM - HGNC]
• PCBD1:pterin-4 alpha-carbinolamine dehydratase 1 [Gene - OMIM - HGNC]
• SAR1A:secretion associated Ras related GTPase 1A [Gene - OMIM - HGNC]
• SRGN:serglycin [Gene - OMIM - HGNC]
• SIRT1:sirtuin 1 [Gene - OMIM - HGNC]
• SLC25A16:solute carrier family 25 member 16 [Gene - OMIM - HGNC]
• SLC29A3:solute carrier family 29 member 3 [Gene - OMIM - HGNC]
• SGPL1:sphingosine-1-phosphate lyase 1 [Gene - OMIM - HGNC]
• SAMD8:sterile alpha motif domain containing 8 [Gene - OMIM - HGNC]
• STOX1:storkhead box 1 [Gene - OMIM - HGNC]
• SYNPO2L:synaptopodin 2 like [Gene - HGNC]
• TACR2:tachykinin receptor 2 [Gene - OMIM - HGNC]
• TET1:tet methylcytosine dioxygenase 1 [Gene - OMIM - HGNC]
• TSPAN15:tetraspanin 15 [Gene - OMIM - HGNC]
• TBATA:thymus, brain and testes associated [Gene - OMIM - HGNC]
• TYSND1:trypsin like peroxisomal matrix peptidase 1 [Gene - OMIM - HGNC]
• USP54:ubiquitin specific peptidase 54 [Gene - HGNC]
• UNC5B:unc-5 netrin receptor B [Gene - OMIM - HGNC]
• VCL:vinculin [Gene - OMIM - HGNC]
• VDAC2:voltage dependent anion channel 2 [Gene - OMIM - HGNC]
• ZSWIM8:zinc finger SWIM-type containing 8 [Gene - OMIM - HGNC]
• ZNF503:zinc finger protein 503 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

10q21.3-22.3

Genomic location:

Chr10: 68735254 - 78885714 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)

HGVS:

NC_000010.10:g.(?_68735254)_(78885714_?)del

This HGVS expression did not pass validation

Observations:

1