GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Oct 20, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000135863.3

Allele description [Variation Report for GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3]

GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3

Genes:
  • ACD:ACD shelterin complex subunit and telomerase recruitment factor [Gene - OMIM - HGNC]
  • ADAMTS18:ADAM metallopeptidase with thrombospondin type 1 motif 18 [Gene - OMIM - HGNC]
  • ATMIN:ATM interactor [Gene - OMIM - HGNC]
  • ATP2C2-AS1:ATP2C2 antisense RNA 1 [Gene - HGNC]
  • ATP6V0D1:ATPase H+ transporting V0 subunit d1 [Gene - OMIM - HGNC]
  • ATP2C2:ATPase secretory pathway Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • BCAR1:BCAR1 scaffold protein, Cas family member [Gene - OMIM - HGNC]
  • BEAN1-AS1:BEAN1 antisense RNA 1 [Gene - HGNC]
  • CMC2:C-X9-C motif containing 2 [Gene - HGNC]
  • CLEC18A:C-type lectin domain family 18 member A [Gene - OMIM - HGNC]
  • CLEC18B:C-type lectin domain family 18 member B [Gene - OMIM - HGNC]
  • CLEC18C:C-type lectin domain family 18 member C [Gene - OMIM - HGNC]
  • CLEC3A:C-type lectin domain family 3 member A [Gene - OMIM - HGNC]
  • CTCF:CCCTC-binding factor [Gene - OMIM - HGNC]
  • LOC108254672:CFDP1 intron CAGE-defined high expression enhancer [Gene]
  • CMTM1:CKLF like MARVEL transmembrane domain containing 1 [Gene - OMIM - HGNC]
  • CMTM2:CKLF like MARVEL transmembrane domain containing 2 [Gene - OMIM - HGNC]
  • CMTM3:CKLF like MARVEL transmembrane domain containing 3 [Gene - OMIM - HGNC]
  • CMTM4:CKLF like MARVEL transmembrane domain containing 4 [Gene - OMIM - HGNC]
  • CKLF-CMTM1:CKLF-CMTM1 readthrough [Gene - HGNC]
  • DDX19A:DEAD-box helicase 19A [Gene - HGNC]
  • DDX19B:DEAD-box helicase 19B [Gene - OMIM - HGNC]
  • DDX28:DEAD-box helicase 28 [Gene - OMIM - HGNC]
  • DHX38:DEAH-box helicase 38 [Gene - OMIM - HGNC]
  • DERPC:DERPC proline and glycine rich nuclear protein [Gene - HGNC]
  • DPEP2NB:DPEP2 neighbor [Gene - HGNC]
  • E2F4:E2F transcription factor 4 [Gene - OMIM - HGNC]
  • FBXL8:F-box and leucine rich repeat protein 8 [Gene - OMIM - HGNC]
  • LOC111413029:FOXA and HNF1 motif-containing MPRA enhancers 32 and 166 [Gene]
  • LOC109611591:FRA16B repeat instability region [Gene]
  • GABARAPL2:GABA type A receptor associated protein like 2 [Gene - OMIM - HGNC]
  • LOC108251797:HCCAT5-C16orf47 intergenic CAGE-defined high expression enhancer [Gene]
  • LOC111365213:HNF1 motif-containing MPRA enhancer 101 [Gene]
  • LOC111556152:HNF4 motif-containing MPRA enhancer 117 [Gene]
  • LOC111429607:HNF4 motif-containing MPRA enhancer 204/205 [Gene]
  • HYDIN:HYDIN axonemal central pair apparatus protein [Gene - OMIM - HGNC]
  • IST1:IST1 factor associated with ESCRT-III [Gene - OMIM - HGNC]
  • KIAA0895L:KIAA0895 like [Gene - HGNC]
  • MPHOSPH6:M-phase phosphoprotein 6 [Gene - OMIM - HGNC]
  • MAF:MAF bZIP transcription factor [Gene - OMIM - HGNC]
  • MAFTRR:MAF transcriptional regulator RNA [Gene - OMIM - HGNC]
  • MARVELD3:MARVEL domain containing 3 [Gene - OMIM - HGNC]
  • MON1B:MON1 homolog B, secretory trafficking associated [Gene - OMIM - HGNC]
  • MEAK7:MTOR associated protein, eak-7 homolog [Gene - HGNC]
  • MTSS2:MTSS I-BAR domain containing 2 [Gene - OMIM - HGNC]
  • NECAB2:N-terminal EF-hand calcium binding protein 2 [Gene - OMIM - HGNC]
  • NQO1:NAD(P)H quinone dehydrogenase 1 [Gene - OMIM - HGNC]
  • NAE1:NEDD8 activating enzyme E1 subunit 1 [Gene - OMIM - HGNC]
  • LOC111365156:NFE2L2 motif-containing MPRA enhancer 24 [Gene]
  • NOB1:NIN1 (RPN12) binding protein 1 homolog [Gene - OMIM - HGNC]
  • PHLPP2:PH domain and leucine rich repeat protein phosphatase 2 [Gene - OMIM - HGNC]
  • RANBP10:RAN binding protein 10 [Gene - OMIM - HGNC]
  • RIPOR1:RHO family interacting cell polarization regulator 1 [Gene - HGNC]
  • RRAD:RRAD, Ras related glycolysis inhibitor and calcium channel regulator [Gene - OMIM - HGNC]
  • ST3GAL2:ST3 beta-galactoside alpha-2,3-sialyltransferase 2 [Gene - OMIM - HGNC]
  • LOC112486207:Sharpr-MPRA regulatory region 10346 [Gene]
  • LOC112486205:Sharpr-MPRA regulatory region 11593 [Gene]
  • LOC112486202:Sharpr-MPRA regulatory region 12307 [Gene]
  • LOC112486211:Sharpr-MPRA regulatory region 12949 [Gene]
  • LOC112486212:Sharpr-MPRA regulatory region 2416 [Gene]
  • LOC112486203:Sharpr-MPRA regulatory region 2580 [Gene]
  • LOC112486210:Sharpr-MPRA regulatory region 3111 [Gene]
  • LOC112486215:Sharpr-MPRA regulatory region 3417 [Gene]
  • LOC113939956:Sharpr-MPRA regulatory region 4151 [Gene]
  • LOC112486208:Sharpr-MPRA regulatory region 41 [Gene]
  • LOC112486201:Sharpr-MPRA regulatory region 4224 [Gene]
  • LOC112486209:Sharpr-MPRA regulatory region 4302 [Gene]
  • LOC112486213:Sharpr-MPRA regulatory region 4528 [Gene]
  • LOC112469016:Sharpr-MPRA regulatory region 4953 [Gene]
  • LOC112486204:Sharpr-MPRA regulatory region 7868 [Gene]
  • LOC112486214:Sharpr-MPRA regulatory region 8727 [Gene]
  • LOC112486206:Sharpr-MPRA regulatory region 9376 [Gene]
  • TAT-AS1:TAT antisense RNA 1 [Gene - HGNC]
  • TAF1C:TATA-box binding protein associated factor, RNA polymerase I subunit C [Gene - OMIM - HGNC]
  • TERF2IP:TERF2 interacting protein [Gene - OMIM - HGNC]
  • THAP11:THAP domain containing 11 [Gene - OMIM - HGNC]
  • TLE7:TLE family member 7 [Gene - HGNC]
  • TRADD:TNFRSF1A associated via death domain [Gene - OMIM - HGNC]
  • B3GNT9:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 [Gene - HGNC]
  • UTP4:UTP4 small subunit processome component [Gene - OMIM - HGNC]
  • VAC14-AS1:VAC14 antisense RNA 1 [Gene - HGNC]
  • VAC14:VAC14 component of PIKFYVE complex [Gene - OMIM - HGNC]
  • LOC110120824:VISTA enhancer hs108 [Gene]
  • LOC110120570:VISTA enhancer hs12 [Gene]
  • LOC110121410:VISTA enhancer hs1612 [Gene]
  • LOC110120571:VISTA enhancer hs16 [Gene]
  • LOC110121436:VISTA enhancer hs1724 [Gene]
  • LOC110121443:VISTA enhancer hs1760 [Gene]
  • LOC110121468:VISTA enhancer hs1959 [Gene]
  • LOC110120572:VISTA enhancer hs20 [Gene]
  • LOC110120573:VISTA enhancer hs22 [Gene]
  • LOC110120569:VISTA enhancer hs4 [Gene]
  • WFDC1:WAP four-disulfide core domain 1 [Gene - OMIM - HGNC]
  • WDR59:WD repeat domain 59 [Gene - OMIM - HGNC]
  • WWP2:WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
  • WWOX-AS1:WWOX antisense RNA 1 [Gene - HGNC]
  • ZFP1:ZFP1 zinc finger protein [Gene - OMIM - HGNC]
  • ZFP90:ZFP90 zinc finger protein [Gene - OMIM - HGNC]
  • AP1G1:adaptor related protein complex 1 subunit gamma 1 [Gene - OMIM - HGNC]
  • ADAD2:adenosine deaminase domain containing 2 [Gene - HGNC]
  • ADAT1:adenosine deaminase tRNA specific 1 [Gene - OMIM - HGNC]
  • AGRP:agouti related neuropeptide [Gene - OMIM - HGNC]
  • AARS1:alanyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • ARLNC1:androgen receptor regulated long noncoding RNA 1 [Gene - OMIM - HGNC]
  • ATXN1L:ataxin 1 like [Gene - OMIM - HGNC]
  • BCO1:beta-carotene oxygenase 1 [Gene - OMIM - HGNC]
  • BEAN1:brain expressed associated with NEDD4 1 [Gene - OMIM - HGNC]
  • CMIP:c-Maf inducing protein [Gene - OMIM - HGNC]
  • CDH11:cadherin 11 [Gene - OMIM - HGNC]
  • CDH13:cadherin 13 [Gene - OMIM - HGNC]
  • CDH16:cadherin 16 [Gene - OMIM - HGNC]
  • CDH1:cadherin 1 [Gene - OMIM - HGNC]
  • CDH3:cadherin 3 [Gene - OMIM - HGNC]
  • CDH5:cadherin 5 [Gene - OMIM - HGNC]
  • CALB2:calbindin 2 [Gene - OMIM - HGNC]
  • CMTR2:cap methyltransferase 2 [Gene - OMIM - HGNC]
  • CARMIL2:capping protein regulator and myosin 1 linker 2 [Gene - OMIM - HGNC]
  • CHST4:carbohydrate sulfotransferase 4 [Gene - HGNC]
  • CHST5:carbohydrate sulfotransferase 5 [Gene - OMIM - HGNC]
  • CHST6:carbohydrate sulfotransferase 6 [Gene - OMIM - HGNC]
  • CA7:carbonic anhydrase 7 [Gene - OMIM - HGNC]
  • CES2:carboxylesterase 2 [Gene - OMIM - HGNC]
  • CES3:carboxylesterase 3 [Gene - OMIM - HGNC]
  • CES4A:carboxylesterase 4A [Gene - HGNC]
  • CENPN:centromere protein N [Gene - OMIM - HGNC]
  • CENPT:centromere protein T [Gene - OMIM - HGNC]
  • CKLF:chemokine like factor [Gene - OMIM - HGNC]
  • CDYL2:chromodomain Y like 2 [Gene - HGNC]
  • C16orf46:chromosome 16 open reading frame 46 [Gene - HGNC]
  • C16orf47:chromosome 16 open reading frame 47 [Gene - HGNC]
  • C16orf70:chromosome 16 open reading frame 70 [Gene - HGNC]
  • C16orf86:chromosome 16 open reading frame 86 [Gene - HGNC]
  • CHTF8:chromosome transmission fidelity factor 8 [Gene - OMIM - HGNC]
  • CTRL:chymotrypsin like [Gene - OMIM - HGNC]
  • CTRB1:chymotrypsinogen B1 [Gene - OMIM - HGNC]
  • CTRB2:chymotrypsinogen B2 [Gene - HGNC]
  • COTL1:coactosin like F-actin binding protein 1 [Gene - OMIM - HGNC]
  • COG4:component of oligomeric golgi complex 4 [Gene - OMIM - HGNC]
  • COG8:component of oligomeric golgi complex 8 [Gene - OMIM - HGNC]
  • CNTNAP4:contactin associated protein family member 4 [Gene - OMIM - HGNC]
  • CBFB:core-binding factor subunit beta [Gene - OMIM - HGNC]
  • CFDP1:craniofacial development protein 1 [Gene - OMIM - HGNC]
  • CYB5B:cytochrome b5 type B [Gene - OMIM - HGNC]
  • CPHXL:cytoplasmic polyadenylated homeobox like [Gene - OMIM - HGNC]
  • CIAO2B:cytosolic iron-sulfur assembly component 2B [Gene - OMIM - HGNC]
  • DHODH:dihydroorotate dehydrogenase (quinone) [Gene - OMIM - HGNC]
  • DUS2:dihydrouridine synthase 2 [Gene - OMIM - HGNC]
  • DPEP2:dipeptidase 2 [Gene - OMIM - HGNC]
  • DPEP3:dipeptidase 3 [Gene - OMIM - HGNC]
  • DUXB:double homeobox B [Gene - OMIM - HGNC]
  • DNAAF1:dynein axonemal assembly factor 1 [Gene - OMIM - HGNC]
  • DYNC1LI2:dynein cytoplasmic 1 light intermediate chain 2 [Gene - OMIM - HGNC]
  • DYNLRB2:dynein light chain roadblock-type 2 [Gene - OMIM - HGNC]
  • ELMO3:engulfment and cell motility 3 [Gene - OMIM - HGNC]
  • EDC4:enhancer of mRNA decapping 4 [Gene - OMIM - HGNC]
  • ENKD1:enkurin domain containing 1 [Gene - HGNC]
  • ESRP2:epithelial splicing regulatory protein 2 [Gene - OMIM - HGNC]
  • EXOC3L1:exocyst complex component 3 like 1 [Gene - OMIM - HGNC]
  • EXOSC6:exosome component 6 [Gene - OMIM - HGNC]
  • FA2H:fatty acid 2-hydroxylase [Gene - OMIM - HGNC]
  • FHOD1:formin homology 2 domain containing 1 [Gene - OMIM - HGNC]
  • FCSK:fucose kinase [Gene - OMIM - HGNC]
  • GAN:gigaxonin [Gene - OMIM - HGNC]
  • GFOD2:glucose-fructose oxidoreductase domain containing 2 [Gene - HGNC]
  • GCSH:glycine cleavage system protein H [Gene - OMIM - HGNC]
  • GLG1:golgi glycoprotein 1 [Gene - OMIM - HGNC]
  • HPR:haptoglobin-related protein [Gene - OMIM - HGNC]
  • HP:haptoglobin [Gene - OMIM - HGNC]
  • HSBP1:heat shock factor binding protein 1 [Gene - OMIM - HGNC]
  • HSF4:heat shock transcription factor 4 [Gene - OMIM - HGNC]
  • HCCAT5:hepatocellular carcinoma associated transcript 5 [Gene - OMIM - HGNC]
  • HAS3:hyaluronan synthase 3 [Gene - OMIM - HGNC]
  • HSD11B2:hydroxysteroid 11-beta dehydrogenase 2 [Gene - OMIM - HGNC]
  • HSD17B2:hydroxysteroid 17-beta dehydrogenase 2 [Gene - OMIM - HGNC]
  • HSDL1:hydroxysteroid dehydrogenase like 1 [Gene - HGNC]
  • IL34:interleukin 34 [Gene - OMIM - HGNC]
  • LDHD:lactate dehydrogenase D [Gene - OMIM - HGNC]
  • LCAT:lecithin-cholesterol acyltransferase [Gene - OMIM - HGNC]
  • LRRC29:leucine rich repeat containing 29 [Gene - HGNC]
  • LRRC36:leucine rich repeat containing 36 [Gene - HGNC]
  • LINC01227:long intergenic non-protein coding RNA 1227 [Gene - HGNC]
  • LINC01229:long intergenic non-protein coding RNA 1229 [Gene - HGNC]
  • LINC01568:long intergenic non-protein coding RNA 1568 [Gene - HGNC]
  • LINC01572:long intergenic non-protein coding RNA 1572 [Gene - HGNC]
  • LINC02125:long intergenic non-protein coding RNA 2125 [Gene - HGNC]
  • LINC02126:long intergenic non-protein coding RNA 2126 [Gene - HGNC]
  • LINC02131:long intergenic non-protein coding RNA 2131 [Gene - HGNC]
  • LINC02136:long intergenic non-protein coding RNA 2136 [Gene - HGNC]
  • LINC00920:long intergenic non-protein coding RNA 920 [Gene - HGNC]
  • LINC00922:long intergenic non-protein coding RNA 922 [Gene - HGNC]
  • KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • MLYCD:malonyl-CoA decarboxylase [Gene - OMIM - HGNC]
  • MBTPS1:membrane bound transcription factor peptidase, site 1 [Gene - OMIM - HGNC]
  • MIR140:microRNA 140 [Gene - OMIM - HGNC]
  • MIR1538:microRNA 1538 [Gene - HGNC]
  • MIR1972-2:microRNA 1972-2 [Gene - HGNC]
  • MIR3182:microRNA 3182 [Gene - HGNC]
  • MIR328:microRNA 328 [Gene - OMIM - HGNC]
  • MIR4719:microRNA 4719 [Gene - HGNC]
  • MIR4720:microRNA 4720 [Gene - HGNC]
  • MIR6504:microRNA 6504 [Gene - HGNC]
  • MIR6773:microRNA 6773 [Gene - HGNC]
  • MIR7854:microRNA 7854 [Gene - HGNC]
  • MIR8058:microRNA 8058 [Gene - HGNC]
  • MLKL:mixed lineage kinase domain like pseudokinase [Gene - OMIM - HGNC]
  • NRN1L:neuritin 1 like [Gene - HGNC]
  • NFATC3:nuclear factor of activated T cells 3 [Gene - OMIM - HGNC]
  • NFAT5:nuclear factor of activated T cells 5 [Gene - OMIM - HGNC]
  • NPIPB15:nuclear pore complex interacting protein family member B15 [Gene - HGNC]
  • NUTF2:nuclear transport factor 2 [Gene - OMIM - HGNC]
  • NIP7:nucleolar pre-rRNA processing protein NIP7 [Gene - HGNC]
  • NOL3:nucleolar protein 3 [Gene - OMIM - HGNC]
  • NUDT7:nudix hydrolase 7 [Gene - OMIM - HGNC]
  • OSGIN1:oxidative stress induced growth inhibitor 1 [Gene - OMIM - HGNC]
  • PARD6A:par-6 family cell polarity regulator alpha [Gene - OMIM - HGNC]
  • PDF:peptide deformylase, mitochondrial [Gene - OMIM - HGNC]
  • PLA2G15:phospholipase A2 group XV [Gene - OMIM - HGNC]
  • PLCG2:phospholipase C gamma 2 [Gene - OMIM - HGNC]
  • PLEKHG4:pleckstrin homology and RhoGEF domain containing G4 [Gene - OMIM - HGNC]
  • PMFBP1:polyamine modulated factor 1 binding protein 1 [Gene - OMIM - HGNC]
  • PKD1L2:polycystin 1 like 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • PKD1L3:polycystin 1 like 3, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • KCTD19:potassium channel tetramerization domain containing 19 [Gene - HGNC]
  • KCNG4:potassium voltage-gated channel modifier subfamily G member 4 [Gene - OMIM - HGNC]
  • PSMB10:proteasome 20S subunit beta 10 [Gene - OMIM - HGNC]
  • PSMD7:proteasome 26S subunit, non-ATPase 7 [Gene - OMIM - HGNC]
  • PRMT7:protein arginine methyltransferase 7 [Gene - OMIM - HGNC]
  • PSKH1:protein serine kinase H1 [Gene - OMIM - HGNC]
  • PDPR:pyruvate dehydrogenase phosphatase regulatory subunit [Gene - OMIM - HGNC]
  • PDP2:pyruvate dehyrogenase phosphatase catalytic subunit 2 [Gene - OMIM - HGNC]
  • RFWD3:ring finger and WD repeat domain 3 [Gene - OMIM - HGNC]
  • SDR42E1:short chain dehydrogenase/reductase family 42E, member 1 [Gene - OMIM - HGNC]
  • SNORD111:small nucleolar RNA, C/D box 111 [Gene - HGNC]
  • SNORD111B:small nucleolar RNA, C/D box 111B [Gene - HGNC]
  • SNORD13H:small nucleolar RNA, C/D box 13H [Gene - HGNC]
  • SNORD71:small nucleolar RNA, C/D box 71 [Gene - HGNC]
  • SNORA70D:small nucleolar RNA, H/ACA box 70D [Gene - HGNC]
  • SLC12A4:solute carrier family 12 member 4 [Gene - OMIM - HGNC]
  • SLC38A8:solute carrier family 38 member 8 [Gene - OMIM - HGNC]
  • SLC7A6OS:solute carrier family 7 member 6 opposite strand [Gene - HGNC]
  • SLC7A6:solute carrier family 7 member 6 [Gene - OMIM - HGNC]
  • SLC9A5:solute carrier family 9 member A5 [Gene - OMIM - HGNC]
  • SMPD3:sphingomyelin phosphodiesterase 3 [Gene - OMIM - HGNC]
  • SF3B3:splicing factor 3b subunit 3 [Gene - OMIM - HGNC]
  • LOC654780:splicing factor proline/glutamine-rich [Gene]
  • SYCE1L:synaptonemal complex central element protein 1 like [Gene - HGNC]
  • SNTB2:syntrophin beta 2 [Gene - OMIM - HGNC]
  • TRG-GCC2-4:tRNA-Gly (anticodon GCC) 2-4 [Gene - HGNC]
  • TRG-GCC2-5:tRNA-Gly (anticodon GCC) 2-5 [Gene - HGNC]
  • TRG-GCC3-1:tRNA-Gly (anticodon GCC) 3-1 [Gene - HGNC]
  • TRG-GCC5-1:tRNA-Gly (anticodon GCC) 5-1 [Gene - HGNC]
  • TRK-TTT1-1:tRNA-Lys (anticodon TTT) 1-1 [Gene - HGNC]
  • TRM-CAT2-1:tRNA-Met (anticodon CAT) 2-1 [Gene - HGNC]
  • TERB1:telomere repeat binding bouquet formation protein 1 [Gene - OMIM - HGNC]
  • TERF2:telomeric repeat binding factor 2 [Gene - OMIM - HGNC]
  • TXNL4B:thioredoxin like 4B [Gene - OMIM - HGNC]
  • TK2:thymidine kinase 2 [Gene - OMIM - HGNC]
  • TSNAXIP1:translin associated factor X interacting protein 1 [Gene - OMIM - HGNC]
  • TMED6:transmembrane p24 trafficking protein 6 [Gene - HGNC]
  • TMEM170A:transmembrane protein 170A [Gene - HGNC]
  • TMEM208:transmembrane protein 208 [Gene - HGNC]
  • TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]
  • TANGO6:transport and golgi organization 6 homolog [Gene - HGNC]
  • TPPP3:tubulin polymerization promoting protein family member 3 [Gene - OMIM - HGNC]
  • TAT:tyrosine aminotransferase [Gene - OMIM - HGNC]
  • LOC100129617:uncharacterized LOC100129617 [Gene]
  • LOC100505942:uncharacterized LOC100505942 [Gene]
  • LOC100506083:uncharacterized LOC100506083 [Gene]
  • LOC100506281:uncharacterized LOC100506281 [Gene]
  • LOC101928035:uncharacterized LOC101928035 [Gene]
  • LOC101928417:uncharacterized LOC101928417 [Gene]
  • LOC101928446:uncharacterized LOC101928446 [Gene]
  • LOC102724084:uncharacterized LOC102724084 [Gene]
  • LOC102724163:uncharacterized LOC102724163 [Gene]
  • LOC105371328:uncharacterized LOC105371328 [Gene]
  • LOC105371335:uncharacterized LOC105371335 [Gene]
  • LOC105376772:uncharacterized LOC105376772 [Gene]
  • LOC106699570:uncharacterized LOC106699570 [Gene]
  • LOC107984813:uncharacterized LOC107984813 [Gene]
  • LOC400541:uncharacterized LOC400541 [Gene]
  • VPS4A:vacuolar protein sorting 4 homolog A [Gene - OMIM - HGNC]
  • VAT1L:vesicle amine transport 1 like [Gene - HGNC]
  • ZNRF1:zinc and ring finger 1 [Gene - OMIM - HGNC]
  • ZDHHC1:zinc finger DHHC-type containing 1 [Gene - HGNC]
  • ZFHX3:zinc finger homeobox 3 [Gene - OMIM - HGNC]
  • ZNF19:zinc finger protein 19 [Gene - OMIM - HGNC]
  • ZNF23:zinc finger protein 23 [Gene - OMIM - HGNC]
  • ZNF821:zinc finger protein 821 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16q21-24.1
Genomic location:
Preferred name:
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3
HGVS:
  • NC_000016.10:g.(?_62925929)_(84585795_?)dup
  • NC_000016.8:g.(?_61517334)_(83176902_?)dup
  • NC_000016.9:g.(?_62959833)_(84619401_?)dup
Links:
dbVar: nssv582250; dbVar: nsv533143
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000175869ISCA site 8

See additional submitters

no assertion criteria providedPathogenic
(Oct 20, 2010)
not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000175869

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 8, SCV000175869.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jan 16, 2020

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