GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000148276.2

Allele description [Variation Report for GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3]

GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3

Genes:
  • LOC108165613:11q24.3 distal HERV-mediated recombination region [Gene]
  • LOC108165612:11q24.3 proximal HERV-mediated recombination region [Gene]
  • ADAMTS15:ADAM metallopeptidase with thrombospondin type 1 motif 15 [Gene - OMIM - HGNC]
  • ADAMTS8:ADAM metallopeptidase with thrombospondin type 1 motif 8 [Gene - OMIM - HGNC]
  • APOA1-AS:APOA1 antisense RNA [Gene - HGNC]
  • ABCG4:ATP binding cassette subfamily G member 4 [Gene - OMIM - HGNC]
  • ATP5MG:ATP synthase membrane subunit g [Gene - OMIM - HGNC]
  • BACE1-AS:BACE1 antisense RNA [Gene - OMIM - HGNC]
  • BARX2:BARX homeobox 2 [Gene - OMIM - HGNC]
  • BCL9L:BCL9 like [Gene - OMIM - HGNC]
  • BLID:BH3-like motif containing, cell death inducer [Gene - OMIM - HGNC]
  • CXCR5:C-X-C motif chemokine receptor 5 [Gene - OMIM - HGNC]
  • C1QTNF5:C1q and TNF related 5 [Gene - OMIM - HGNC]
  • C2CD2L:C2CD2 like [Gene - OMIM - HGNC]
  • LOC108353823:CAGE-defined T cell enhancer downstream of ETS1 [Gene]
  • CD3D:CD3d molecule [Gene - OMIM - HGNC]
  • CD3E:CD3e molecule [Gene - OMIM - HGNC]
  • CD3G:CD3g molecule [Gene - OMIM - HGNC]
  • CLMP:CXADR like membrane protein [Gene - OMIM - HGNC]
  • CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
  • DDX25:DEAD-box helicase 25 [Gene - OMIM - HGNC]
  • DDX6:DEAD-box helicase 6 [Gene - OMIM - HGNC]
  • DSCAML1:DS cell adhesion molecule like 1 [Gene - OMIM - HGNC]
  • EI24:EI24 autophagy associated transmembrane protein [Gene - OMIM - HGNC]
  • ETS1:ETS proto-oncogene 1, transcription factor [Gene - OMIM - HGNC]
  • ETS1-AS1:ETS1 antisense RNA 1 [Gene - HGNC]
  • FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
  • LOC109280160:FRA11B repeat instability region [Gene]
  • FXYD2:FXYD domain containing ion transport regulator 2 [Gene - OMIM - HGNC]
  • FXYD6:FXYD domain containing ion transport regulator 6 [Gene - OMIM - HGNC]
  • FXYD6-FXYD2:FXYD6-FXYD2 readthrough [Gene - HGNC]
  • FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]
  • GSEC:G-quadruplex forming sequence containing lncRNA [Gene - HGNC]
  • GRAMD1B:GRAM domain containing 1B [Gene - HGNC]
  • H2AX:H2A.X variant histone [Gene - OMIM - HGNC]
  • LOC111365219:HNF4 motif-containing MPRA enhancer 115 [Gene]
  • LOC111413012:HNF4 motif-containing MPRA enhancer 139 [Gene]
  • LOC111429625:HNF4 motif-containing MPRA enhancer 223 [Gene]
  • LOC111464985:HNF4 motif-containing MPRA enhancer 230 [Gene]
  • LOC111465015:HNF4 motif-containing MPRA enhancer 256 [Gene]
  • HYLS1:HYLS1 centriolar and ciliogenesis associated [Gene - OMIM - HGNC]
  • KIRREL3-AS2:KIRREL3 antisense RNA 2 [Gene - HGNC]
  • KIRREL3-AS3:KIRREL3 antisense RNA 3 [Gene - HGNC]
  • MIR4697HG:MIR4697 host gene [Gene - HGNC]
  • MSANTD2:Myb/SANT DNA binding domain containing 2 [Gene - HGNC]
  • NECTIN1-AS1:NECTIN1 antisense RNA 1 [Gene - HGNC]
  • NLRX1:NLR family member X1 [Gene - OMIM - HGNC]
  • NTM-AS1:NTM antisense RNA 1 [Gene - HGNC]
  • NTM-IT:NTM intronic transcript [Gene - HGNC]
  • PKNOX2:PBX/knotted 1 homeobox 2 [Gene - OMIM - HGNC]
  • PDZD3:PDZ domain containing 3 [Gene - OMIM - HGNC]
  • PKNOX2-AS1:PKNOX2 antisense RNA 1 (head to head) [Gene - HGNC]
  • POU2F3:POU class 2 homeobox 3 [Gene - OMIM - HGNC]
  • PRDM10:PR/SET domain 10 [Gene - OMIM - HGNC]
  • RPUSD4:RNA pseudouridine synthase D4 [Gene - OMIM - HGNC]
  • ARHGAP32:Rho GTPase activating protein 32 [Gene - OMIM - HGNC]
  • ARHGEF12:Rho guanine nucleotide exchange factor 12 [Gene - OMIM - HGNC]
  • SIDT2:SID1 transmembrane family member 2 [Gene - OMIM - HGNC]
  • SIK3:SIK family kinase 3 [Gene - OMIM - HGNC]
  • LOC114803469:SORL1 eExon liver enhancer [Gene]
  • SRPRA:SRP receptor subunit alpha [Gene - OMIM - HGNC]
  • ST3GAL4:ST3 beta-galactoside alpha-2,3-sialyltransferase 4 [Gene - OMIM - HGNC]
  • STT3A:STT3 oligosaccharyltransferase complex catalytic subunit A [Gene - OMIM - HGNC]
  • STT3A-AS1:STT3A antisense RNA 1 [Gene - HGNC]
  • LOC112061819:Sharpr-MPRA regulatory region 10895 [Gene]
  • LOC112042784:Sharpr-MPRA regulatory region 11087 [Gene]
  • LOC112042779:Sharpr-MPRA regulatory region 11099 [Gene]
  • LOC112042778:Sharpr-MPRA regulatory region 11464 [Gene]
  • LOC112042780:Sharpr-MPRA regulatory region 11711 [Gene]
  • LOC112061823:Sharpr-MPRA regulatory region 13105 [Gene]
  • LOC112067710:Sharpr-MPRA regulatory region 13397 [Gene]
  • LOC112061821:Sharpr-MPRA regulatory region 13423 [Gene]
  • LOC112042786:Sharpr-MPRA regulatory region 13459 [Gene]
  • LOC112042777:Sharpr-MPRA regulatory region 14251 [Gene]
  • LOC112061822:Sharpr-MPRA regulatory region 14954 [Gene]
  • LOC112042783:Sharpr-MPRA regulatory region 564 [Gene]
  • LOC112061820:Sharpr-MPRA regulatory region 5906 [Gene]
  • LOC112067711:Sharpr-MPRA regulatory region 715 [Gene]
  • LOC112042785:Sharpr-MPRA regulatory region 9139 [Gene]
  • TIRAP:TIR domain containing adaptor protein [Gene - OMIM - HGNC]
  • TLCD5:TLC domain containing 5 [Gene - HGNC]
  • LOC108281156:TMEM45B-NFRKB intergenic CAGE-defined mid-level expression enhancer [Gene]
  • THY1:Thy-1 cell surface antigen [Gene - OMIM - HGNC]
  • USP2-AS1:USP2 antisense RNA 1 (head to head) [Gene - HGNC]
  • VSIG10L2:V-set and immunoglobulin domain containing 10 like 2 [Gene - HGNC]
  • VSIG2:V-set and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
  • LOC110121418:VISTA enhancer hs1641 [Gene]
  • LOC110121460:VISTA enhancer hs1915 [Gene]
  • LOC110120853:VISTA enhancer hs335 [Gene]
  • LOC110120944:VISTA enhancer hs872 [Gene]
  • VPS11:VPS11 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • VPS26B:VPS26, retromer complex component B [Gene - OMIM - HGNC]
  • ZBTB44-DT:ZBTB44 divergent transcript [Gene - HGNC]
  • ACRV1:acrosomal vesicle protein 1 [Gene - OMIM - HGNC]
  • ACAD8:acyl-CoA dehydrogenase family member 8 [Gene - OMIM - HGNC]
  • APLP2:amyloid beta precursor like protein 2 [Gene - OMIM - HGNC]
  • ARCN1:archain 1 [Gene - OMIM - HGNC]
  • B3GAT1:beta-1,3-glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • BACE1:beta-secretase 1 [Gene - OMIM - HGNC]
  • BSX:brain specific homeobox [Gene - OMIM - HGNC]
  • CDON:cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CEP164:centrosomal protein 164 [Gene - OMIM - HGNC]
  • CHEK1:checkpoint kinase 1 [Gene - OMIM - HGNC]
  • C11orf45:chromosome 11 open reading frame 45 [Gene - HGNC]
  • CCDC153:coiled-coil domain containing 153 [Gene - HGNC]
  • CCDC15:coiled-coil domain containing 15 [Gene - HGNC]
  • CCDC84:coiled-coil domain containing 84 [Gene - HGNC]
  • CRTAM:cytotoxic and regulatory T cell molecule [Gene - OMIM - HGNC]
  • DCPS:decapping enzyme, scavenger [Gene - OMIM - HGNC]
  • DPAGT1:dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [Gene - OMIM - HGNC]
  • ESAM:endothelial cell adhesion molecule [Gene - OMIM - HGNC]
  • FAM118B:family with sequence similarity 118 member B [Gene - OMIM - HGNC]
  • FEZ1:fasciculation and elongation protein zeta 1 [Gene - OMIM - HGNC]
  • FOXR1:forkhead box R1 [Gene - OMIM - HGNC]
  • GLB1L2:galactosidase beta 1 like 2 [Gene - HGNC]
  • GLB1L3:galactosidase beta 1 like 3 [Gene - HGNC]
  • GRIK4:glutamate ionotropic receptor kainate type subunit 4 [Gene - OMIM - HGNC]
  • HSPA8:heat shock protein family A (Hsp70) member 8 [Gene - OMIM - HGNC]
  • HEPACAM:hepatic and glial cell adhesion molecule [Gene - OMIM - HGNC]
  • HEPN1:hepatocellular carcinoma, down-regulated 1 [Gene - OMIM - HGNC]
  • HINFP:histone H4 transcription factor [Gene - OMIM - HGNC]
  • HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]
  • HYOU1:hypoxia up-regulated 1 [Gene - OMIM - HGNC]
  • IGSF9B:immunoglobulin superfamily member 9B [Gene - OMIM - HGNC]
  • IL10RA:interleukin 10 receptor subunit alpha [Gene - OMIM - HGNC]
  • IFT46:intraflagellar transport 46 [Gene - HGNC]
  • JAML:junction adhesion molecule like [Gene - OMIM - HGNC]
  • JAM3:junctional adhesion molecule 3 [Gene - OMIM - HGNC]
  • JHY:junctional cadherin complex regulator [Gene - OMIM - HGNC]
  • KIRREL3:kirre like nephrin family adhesion molecule 3 [Gene - OMIM - HGNC]
  • LINC01395:long intergenic non-protein coding RNA 1395 [Gene - HGNC]
  • LINC00167:long intergenic non-protein coding RNA 167 [Gene - HGNC]
  • LINC02098:long intergenic non-protein coding RNA 2098 [Gene - HGNC]
  • LINC02551:long intergenic non-protein coding RNA 2551 [Gene - HGNC]
  • LINC02697:long intergenic non-protein coding RNA 2697 [Gene - HGNC]
  • LINC02706:long intergenic non-protein coding RNA 2706 [Gene - HGNC]
  • LINC02712:long intergenic non-protein coding RNA 2712 [Gene - HGNC]
  • LINC02714:long intergenic non-protein coding RNA 2714 [Gene - HGNC]
  • LINC02725:long intergenic non-protein coding RNA 2725 [Gene - HGNC]
  • LINC02727:long intergenic non-protein coding RNA 2727 [Gene - HGNC]
  • LINC02731:long intergenic non-protein coding RNA 2731 [Gene - HGNC]
  • LINC02743:long intergenic non-protein coding RNA 2743 [Gene - HGNC]
  • LINC02744:long intergenic non-protein coding RNA 2744 [Gene - HGNC]
  • LINC02873:long intergenic non-protein coding RNA 2873 [Gene - HGNC]
  • KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]
  • MCAM:melanoma cell adhesion molecule [Gene - OMIM - HGNC]
  • MFRP:membrane frizzled-related protein [Gene - OMIM - HGNC]
  • MIR100:microRNA 100 [Gene - OMIM - HGNC]
  • MIR10526:microRNA 10526 [Gene - HGNC]
  • MIR125B1:microRNA 125b-1 [Gene - OMIM - HGNC]
  • MIR3167:microRNA 3167 [Gene - HGNC]
  • MIR3656:microRNA 3656 [Gene - HGNC]
  • MIR4492:microRNA 4492 [Gene - HGNC]
  • MIR4493:microRNA 4493 [Gene - HGNC]
  • MIR4697:microRNA 4697 [Gene - HGNC]
  • MIR6090:microRNA 6090 [Gene - HGNC]
  • MIR6716:microRNA 6716 [Gene - HGNC]
  • MIR6756:microRNA 6756 [Gene - HGNC]
  • MIR8052:microRNA 8052 [Gene - HGNC]
  • MIRLET7A2:microRNA let-7a-2 [Gene - OMIM - HGNC]
  • MIR100HG:mir-100-let-7a-2-mir-125b-1 cluster host gene [Gene - OMIM - HGNC]
  • MPZL2:myelin protein zero like 2 [Gene - OMIM - HGNC]
  • MPZL3:myelin protein zero like 3 [Gene - OMIM - HGNC]
  • NECTIN1:nectin cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • NRGN:neurogranin [Gene - OMIM - HGNC]
  • NTM:neurotrimin [Gene - OMIM - HGNC]
  • NCAPD3:non-SMC condensin II complex subunit D3 [Gene - OMIM - HGNC]
  • NFRKB:nuclear factor related to kappaB binding protein [Gene - OMIM - HGNC]
  • OR10D3:olfactory receptor family 10 subfamily D member 3 (putative) [Gene - HGNC]
  • OR10G4:olfactory receptor family 10 subfamily G member 4 [Gene - HGNC]
  • OR10G6:olfactory receptor family 10 subfamily G member 6 [Gene - HGNC]
  • OR10G7:olfactory receptor family 10 subfamily G member 7 [Gene - HGNC]
  • OR10G8:olfactory receptor family 10 subfamily G member 8 [Gene - HGNC]
  • OR10G9:olfactory receptor family 10 subfamily G member 9 [Gene - HGNC]
  • OR10S1:olfactory receptor family 10 subfamily S member 1 [Gene - HGNC]
  • OR4D5:olfactory receptor family 4 subfamily D member 5 [Gene - HGNC]
  • OR6M1:olfactory receptor family 6 subfamily M member 1 [Gene - HGNC]
  • OR6T1:olfactory receptor family 6 subfamily T member 1 [Gene - HGNC]
  • OR6X1:olfactory receptor family 6 subfamily X member 1 [Gene - HGNC]
  • OR8A1:olfactory receptor family 8 subfamily A member 1 [Gene - HGNC]
  • OR8B12:olfactory receptor family 8 subfamily B member 12 [Gene - HGNC]
  • OR8B2:olfactory receptor family 8 subfamily B member 2 [Gene - HGNC]
  • OR8B3:olfactory receptor family 8 subfamily B member 3 [Gene - HGNC]
  • OR8B4:olfactory receptor family 8 subfamily B member 4 (gene/pseudogene) [Gene - HGNC]
  • OR8B8:olfactory receptor family 8 subfamily B member 8 [Gene - HGNC]
  • OR8D1:olfactory receptor family 8 subfamily D member 1 [Gene - HGNC]
  • OR8D2:olfactory receptor family 8 subfamily D member 2 (gene/pseudogene) [Gene - HGNC]
  • OR8D4:olfactory receptor family 8 subfamily D member 4 [Gene - HGNC]
  • OR8G1:olfactory receptor family 8 subfamily G member 1 (gene/pseudogene) [Gene - HGNC]
  • OR8G2P:olfactory receptor family 8 subfamily G member 2 pseudogene [Gene - HGNC]
  • OR8G5:olfactory receptor family 8 subfamily G member 5 [Gene - HGNC]
  • OPCML:opioid binding protein/cell adhesion molecule like [Gene - OMIM - HGNC]
  • OAF:out at first homolog [Gene - HGNC]
  • PANX3:pannexin 3 [Gene - OMIM - HGNC]
  • PAFAH1B2:platelet activating factor acetylhydrolase 1b catalytic subunit 2 [Gene - OMIM - HGNC]
  • PHLDB1:pleckstrin homology like domain family B member 1 [Gene - OMIM - HGNC]
  • KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]
  • KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
  • PCSK7:proprotein convertase subtilisin/kexin type 7 [Gene - OMIM - HGNC]
  • PATE1:prostate and testis expressed 1 [Gene - OMIM - HGNC]
  • PATE2:prostate and testis expressed 2 [Gene - HGNC]
  • PATE3:prostate and testis expressed 3 [Gene - HGNC]
  • PATE4:prostate and testis expressed 4 [Gene - HGNC]
  • PUS3:pseudouridine synthase 3 [Gene - OMIM - HGNC]
  • LOC403312:putative uncharacterized protein MGC39545 [Gene]
  • RPS25:ribosomal protein S25 [Gene - OMIM - HGNC]
  • RNF214:ring finger protein 214 [Gene - HGNC]
  • RNF26:ring finger protein 26 [Gene - OMIM - HGNC]
  • ROBO3:roundabout guidance receptor 3 [Gene - OMIM - HGNC]
  • ROBO4:roundabout guidance receptor 4 [Gene - OMIM - HGNC]
  • SIAE:sialic acid acetylesterase [Gene - OMIM - HGNC]
  • SMIM35:small integral membrane protein 35 [Gene - HGNC]
  • SNORD14C:small nucleolar RNA, C/D box 14C [Gene - HGNC]
  • SNORD14D:small nucleolar RNA, C/D box 14D [Gene - HGNC]
  • SNORD14E:small nucleolar RNA, C/D box 14E [Gene - HGNC]
  • SNORD150:small nucleolar RNA, C/D box 150 [Gene - HGNC]
  • SNORD153:small nucleolar RNA, C/D box 153 [Gene - HGNC]
  • SENCR:smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA [Gene - OMIM - HGNC]
  • SCN2B:sodium voltage-gated channel beta subunit 2 [Gene - OMIM - HGNC]
  • SCN3B:sodium voltage-gated channel beta subunit 3 [Gene - OMIM - HGNC]
  • SCN4B:sodium voltage-gated channel beta subunit 4 [Gene - OMIM - HGNC]
  • SLC37A2:solute carrier family 37 member 2 [Gene - HGNC]
  • SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
  • SORL1:sortilin related receptor 1 [Gene - OMIM - HGNC]
  • SNX19:sorting nexin 19 [Gene - HGNC]
  • SPA17:sperm autoantigenic protein 17 [Gene - OMIM - HGNC]
  • SPATA19:spermatogenesis associated 19 [Gene - OMIM - HGNC]
  • SC5D:sterol-C5-desaturase [Gene - OMIM - HGNC]
  • ST14:suppression of tumorigenicity 14 [Gene - OMIM - HGNC]
  • TRK-TTT2-1:tRNA-Lys (anticodon TTT) 2-1 [Gene - HGNC]
  • TECTA:tectorin alpha [Gene - OMIM - HGNC]
  • TTC36:tetratricopeptide repeat domain 36 [Gene - HGNC]
  • THYN1:thymocyte nuclear protein 1 [Gene - OMIM - HGNC]
  • TRAPPC4:trafficking protein particle complex 4 [Gene - OMIM - HGNC]
  • TBRG1:transforming growth factor beta regulator 1 [Gene - OMIM - HGNC]
  • TAGLN:transgelin [Gene - OMIM - HGNC]
  • TMEM218:transmembrane protein 218 [Gene - HGNC]
  • TMEM225:transmembrane protein 225 [Gene - HGNC]
  • TMEM25:transmembrane protein 25 [Gene - OMIM - HGNC]
  • TMEM45B:transmembrane protein 45B [Gene - HGNC]
  • TMPRSS13:transmembrane serine protease 13 [Gene - OMIM - HGNC]
  • TMPRSS4:transmembrane serine protease 4 [Gene - OMIM - HGNC]
  • TREH:trehalase [Gene - OMIM - HGNC]
  • TRIM29:tripartite motif containing 29 [Gene - OMIM - HGNC]
  • TBCEL:tubulin folding cofactor E like [Gene - OMIM - HGNC]
  • TP53AIP1:tumor protein p53 regulated apoptosis inducing protein 1 [Gene - OMIM - HGNC]
  • UBASH3B:ubiquitin associated and SH3 domain containing B [Gene - OMIM - HGNC]
  • USP2:ubiquitin specific peptidase 2 [Gene - OMIM - HGNC]
  • UBE4A:ubiquitination factor E4A [Gene - OMIM - HGNC]
  • LOC100128242:uncharacterized LOC100128242 [Gene]
  • LOC100131626:uncharacterized LOC100131626 [Gene]
  • LOC100507283:uncharacterized LOC100507283 [Gene]
  • LOC100507548:uncharacterized LOC100507548 [Gene]
  • LOC100652768:uncharacterized LOC100652768 [Gene]
  • LOC101929089:uncharacterized LOC101929089 [Gene]
  • LOC101929208:uncharacterized LOC101929208 [Gene]
  • LOC101929227:uncharacterized LOC101929227 [Gene]
  • LOC101929340:uncharacterized LOC101929340 [Gene]
  • LOC101929427:uncharacterized LOC101929427 [Gene]
  • LOC101929473:uncharacterized LOC101929473 [Gene]
  • LOC101929538:uncharacterized LOC101929538 [Gene]
  • LOC101929653:uncharacterized LOC101929653 [Gene]
  • LOC102724301:uncharacterized LOC102724301 [Gene]
  • LOC103611081:uncharacterized LOC103611081 [Gene]
  • LOC105369532:uncharacterized LOC105369532 [Gene]
  • LOC107984399:uncharacterized LOC107984399 [Gene]
  • LOC283177:uncharacterized LOC283177 [Gene]
  • LOC399975:uncharacterized LOC399975 [Gene]
  • LOC649133:uncharacterized LOC649133 [Gene]
  • UPK2:uroplakin 2 [Gene - OMIM - HGNC]
  • VWA5A:von Willebrand factor A domain containing 5A [Gene - OMIM - HGNC]
  • ZBTB44:zinc finger and BTB domain containing 44 [Gene - HGNC]
  • ZNF202:zinc finger protein 202 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q23.3-25
Genomic location:
Preferred name:
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3
HGVS:
  • NC_000011.10:g.(?_116851395)_(134998513_?)dup
  • NC_000011.8:g.(?_116227321)_(134373617_?)dup
  • NC_000011.9:g.(?_116722111)_(134868407_?)dup
Links:
dbVar: nssv578606; dbVar: nsv1067789
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
SCV000077638ISCA site 4

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
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. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000077638

Summary from all submissions

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

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000077638.4

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

Last Updated: Nov 2, 2019

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