GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)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:
RCV000053770.4

Allele description [Variation Report for GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3]

GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3

Genes:
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
  • ANKRD10-IT1:ANKRD10 intronic transcript 1 [Gene - HGNC]
  • ARHGEF7-AS1:ARHGEF7 antisense RNA 1 [Gene - HGNC]
  • ARHGEF7-AS2:ARHGEF7 antisense RNA 2 [Gene - HGNC]
  • ABCC4:ATP binding cassette subfamily C member 4 [Gene - OMIM - HGNC]
  • ATP11A-AS1:ATP11A antisense RNA 1 [Gene - HGNC]
  • ATP11AUN:ATP11A upstream neighbor [Gene - HGNC]
  • ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
  • ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
  • BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
  • CFAP97D2:CFAP97 domain containing 2 [Gene - HGNC]
  • CLDN10-AS1:CLDN10 antisense RNA 1 [Gene - HGNC]
  • CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
  • CLYBL-AS1:CLYBL antisense RNA 1 [Gene - HGNC]
  • CLYBL-AS2:CLYBL antisense RNA 2 [Gene - HGNC]
  • COL4A2-AS2:COL4A2 antisense 2 [Gene - HGNC]
  • COL4A2-AS1:COL4A2 antisense RNA 1 [Gene - HGNC]
  • COMMD6:COMM domain containing 6 [Gene - OMIM - HGNC]
  • LOC116268457:CRISPRi-validated cis-regulatory element chr13.1281 [Gene]
  • DAOA:D-amino acid oxidase activator [Gene - OMIM - HGNC]
  • DAOA-AS1:DAOA antisense RNA 1 [Gene - OMIM - HGNC]
  • DZIP1:DAZ interacting zinc finger protein 1 [Gene - OMIM - HGNC]
  • LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
  • DNAJC3-DT:DNAJC3 divergent transcript [Gene - HGNC]
  • DOCK9-AS1:DOCK9 antisense RNA 1 [Gene - HGNC]
  • DOCK9-DT:DOCK9 divergent transcript [Gene - HGNC]
  • DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]
  • EDNRB-AS1:EDNRB antisense RNA 1 [Gene - HGNC]
  • LOC107882129:EDNRB proximal promoter region [Gene]
  • LOC107882127:EDNRB upstream promoter region [Gene]
  • ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]
  • FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
  • F10-AS1:F10 antisense RNA 1 [Gene - HGNC]
  • FAM155A-IT1:FAM155A intronic transcript 1 [Gene - HGNC]
  • FARP1:FERM, ARH/RhoGEF and pleckstrin domain protein 1 [Gene - OMIM - HGNC]
  • FGF14-AS1:FGF14 antisense RNA 1 [Gene - HGNC]
  • FGF14-AS2:FGF14 antisense RNA 2 [Gene - HGNC]
  • FGF14-IT1:FGF14 intronic transcript 1 [Gene - HGNC]
  • FKSG29:FKSG29 [Gene]
  • LOC111429622:FOXA motif-containing MPRA enhancer 219 [Gene]
  • GPR180:G protein-coupled receptor 180 [Gene - OMIM - HGNC]
  • GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
  • GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
  • GRK1:G protein-coupled receptor kinase 1 [Gene - OMIM - HGNC]
  • GAS6-AS1:GAS6 antisense RNA 1 [Gene - HGNC]
  • GAS6-DT:GAS6 divergent transcript [Gene - HGNC]
  • GPC5-AS1:GPC5 antisense RNA 1 [Gene - HGNC]
  • GPC5-AS2:GPC5 antisense RNA 2 [Gene - HGNC]
  • GPC6-AS1:GPC6 antisense RNA 1 [Gene - HGNC]
  • GPC6-AS2:GPC6 antisense RNA 2 [Gene - HGNC]
  • GRTP1-AS1:GRTP1 antisense RNA 1 [Gene - HGNC]
  • LMO7:LIM domain 7 [Gene - OMIM - HGNC]
  • LMO7-AS1:LMO7 antisense RNA 1 [Gene - HGNC]
  • LMO7DN:LMO7 downstream neighbor [Gene - HGNC]
  • LMO7DN-IT1:LMO7DN intronic transcript 1 [Gene - HGNC]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • MCF2L-AS1:MCF2L antisense RNA 1 [Gene - HGNC]
  • MIR4500HG:MIR4500 host gene [Gene - HGNC]
  • MYCBP2:MYC binding protein 2 [Gene - OMIM - HGNC]
  • MYCBP2-AS1:MYCBP2 antisense RNA 1 [Gene - HGNC]
  • MYO16-AS1:MYO16 antisense RNA 1 [Gene - HGNC]
  • NAXD:NAD(P)HX dehydratase [Gene - OMIM - HGNC]
  • NALCN-AS1:NALCN antisense RNA 1 [Gene - HGNC]
  • NDFIP2-AS1:NDFIP2 antisense RNA 1 [Gene - HGNC]
  • NDFIP2:Nedd4 family interacting protein 2 [Gene - OMIM - HGNC]
  • OBI1-AS1:OBI1 antisense RNA 1 [Gene - HGNC]
  • OBI1:ORC ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • PCCA-AS1:PCCA antisense RNA 1 [Gene - HGNC]
  • PCCA-DT:PCCA divergent transcript [Gene - HGNC]
  • PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
  • POU4F1:POU class 4 homeobox 1 [Gene - OMIM - HGNC]
  • RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
  • RAP2A:RAP2A, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
  • RBM26-AS1:RBM26 antisense RNA 1 [Gene - HGNC]
  • RBM26:RNA binding motif protein 26 [Gene - HGNC]
  • ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]
  • SCEL-AS1:SCEL antisense RNA 1 [Gene - HGNC]
  • SLAIN1:SLAIN motif family member 1 [Gene - OMIM - HGNC]
  • SLITRK1:SLIT and NTRK like family member 1 [Gene - OMIM - HGNC]
  • SLITRK5:SLIT and NTRK like family member 5 [Gene - OMIM - HGNC]
  • SLITRK6:SLIT and NTRK like family member 6 [Gene - OMIM - HGNC]
  • SOX1-OT:SOX1 overlapping transcript [Gene - HGNC]
  • SOX21-AS1:SOX21 antisense divergent transcript 1 [Gene - HGNC]
  • SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
  • SOX21:SRY-box transcription factor 21 [Gene - OMIM - HGNC]
  • STK24-AS1:STK24 antisense RNA 1 [Gene - HGNC]
  • LOC112163643:Sharpr-MPRA regulatory region 11013 [Gene]
  • LOC112163671:Sharpr-MPRA regulatory region 1150 [Gene]
  • LOC112163638:Sharpr-MPRA regulatory region 12105 [Gene]
  • LOC112163644:Sharpr-MPRA regulatory region 12287 [Gene]
  • LOC112163640:Sharpr-MPRA regulatory region 13792 [Gene]
  • LOC112163674:Sharpr-MPRA regulatory region 14763 [Gene]
  • LOC112163676:Sharpr-MPRA regulatory region 2339 [Gene]
  • LOC112163672:Sharpr-MPRA regulatory region 2923 [Gene]
  • LOC112163646:Sharpr-MPRA regulatory region 3704 [Gene]
  • LOC112163675:Sharpr-MPRA regulatory region 5370 [Gene]
  • LOC112163637:Sharpr-MPRA regulatory region 5963 [Gene]
  • LOC112163645:Sharpr-MPRA regulatory region 8271 [Gene]
  • LOC112163639:Sharpr-MPRA regulatory region 9290 [Gene]
  • TBC1D4:TBC1 domain family member 4 [Gene - OMIM - HGNC]
  • TGDS:TDP-glucose 4,6-dehydratase [Gene - OMIM - HGNC]
  • TNFSF13B:TNF superfamily member 13b [Gene - OMIM - HGNC]
  • UBAC2:UBA domain containing 2 [Gene - HGNC]
  • UBAC2-AS1:UBAC2 antisense RNA 1 [Gene - HGNC]
  • UGGT2:UDP-glucose glycoprotein glucosyltransferase 2 [Gene - OMIM - HGNC]
  • UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • LOC110121336:VISTA enhancer hs1246 [Gene]
  • LOC110121360:VISTA enhancer hs1394 [Gene]
  • LOC110121375:VISTA enhancer hs1471 [Gene]
  • LOC110121473:VISTA enhancer hs1991 [Gene]
  • LOC110120881:VISTA enhancer hs488 [Gene]
  • LOC110120930:VISTA enhancer hs759 [Gene]
  • LOC110120933:VISTA enhancer hs796 [Gene]
  • LOC110120950:VISTA enhancer hs915 [Gene]
  • LOC110120855:VISTA enhancers hs189 and hs341 [Gene]
  • LOC110008580:Zic family member 2 polyalanine repeat instability region [Gene]
  • ZIC2:Zic family member 2 [Gene - OMIM - HGNC]
  • ZIC5:Zic family member 5 [Gene - OMIM - HGNC]
  • ABHD13:abhydrolase domain containing 13 [Gene - HGNC]
  • ACOD1:aconitate decarboxylase 1 [Gene - OMIM - HGNC]
  • ANKRD10:ankyrin repeat domain 10 [Gene - HGNC]
  • ARGLU1:arginine and glutamate rich 1 [Gene - OMIM - HGNC]
  • BIVM:basic, immunoglobulin-like variable motif containing [Gene - HGNC]
  • CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
  • C13orf46:chromosome 13 open reading frame 46 [Gene - HGNC]
  • CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
  • CLYBL:citrate lyase beta like [Gene - OMIM - HGNC]
  • CLDN10:claudin 10 [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • CCDC168:coiled-coil domain containing 168 [Gene - HGNC]
  • LOC101928841:collagen alpha-1(II) chain-like [Gene]
  • COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • DCT:dopachrome tautomerase [Gene - OMIM - HGNC]
  • EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
  • EFNB2:ephrin B2 [Gene - OMIM - HGNC]
  • FAM155A:family with sequence similarity 155 member A [Gene - HGNC]
  • FGF14:fibroblast growth factor 14 [Gene - OMIM - HGNC]
  • GGACT:gamma-glutamylamine cyclotransferase [Gene - OMIM - HGNC]
  • GPC5:glypican 5 [Gene - OMIM - HGNC]
  • GPC6:glypican 6 [Gene - OMIM - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • LOC107992391:heart enhancer 14 [Gene]
  • HS6ST3:heparan sulfate 6-O-sulfotransferase 3 [Gene - OMIM - HGNC]
  • IPO5:importin 5 [Gene - OMIM - HGNC]
  • ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
  • IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
  • ITGBL1:integrin subunit beta like 1 [Gene - OMIM - HGNC]
  • LINC01038:long intergenic non-protein coding RNA 1038 [Gene - HGNC]
  • LINC01039:long intergenic non-protein coding RNA 1039 [Gene - HGNC]
  • LINC01040:long intergenic non-protein coding RNA 1040 [Gene - HGNC]
  • LINC01043:long intergenic non-protein coding RNA 1043 [Gene - HGNC]
  • LINC01044:long intergenic non-protein coding RNA 1044 [Gene - HGNC]
  • LINC01047:long intergenic non-protein coding RNA 1047 [Gene - HGNC]
  • LINC01049:long intergenic non-protein coding RNA 1049 [Gene - HGNC]
  • LINC01068:long intergenic non-protein coding RNA 1068 [Gene - HGNC]
  • LINC01069:long intergenic non-protein coding RNA 1069 [Gene - HGNC]
  • LINC01070:long intergenic non-protein coding RNA 1070 [Gene - HGNC]
  • LINC01078:long intergenic non-protein coding RNA 1078 [Gene - HGNC]
  • LINC01080:long intergenic non-protein coding RNA 1080 [Gene - OMIM - HGNC]
  • LINC01232:long intergenic non-protein coding RNA 1232 [Gene - HGNC]
  • LINC01309:long intergenic non-protein coding RNA 1309 [Gene - HGNC]
  • LINC02336:long intergenic non-protein coding RNA 2336 [Gene - HGNC]
  • LINC02337:long intergenic non-protein coding RNA 2337 [Gene - HGNC]
  • LINC00331:long intergenic non-protein coding RNA 331 [Gene - HGNC]
  • LINC00333:long intergenic non-protein coding RNA 333 [Gene - HGNC]
  • LINC00343:long intergenic non-protein coding RNA 343 [Gene - HGNC]
  • LINC00347:long intergenic non-protein coding RNA 347 [Gene - HGNC]
  • LINC00351:long intergenic non-protein coding RNA 351 [Gene - HGNC]
  • LINC00353:long intergenic non-protein coding RNA 353 [Gene - HGNC]
  • LINC00354:long intergenic non-protein coding RNA 354 [Gene - HGNC]
  • LINC00359:long intergenic non-protein coding RNA 359 [Gene - HGNC]
  • LINC00363:long intergenic non-protein coding RNA 363 [Gene - HGNC]
  • LINC00368:long intergenic non-protein coding RNA 368 [Gene - HGNC]
  • LINC00370:long intergenic non-protein coding RNA 370 [Gene - HGNC]
  • LINC00373:long intergenic non-protein coding RNA 373 [Gene - HGNC]
  • LINC00375:long intergenic non-protein coding RNA 375 [Gene - HGNC]
  • LINC00377:long intergenic non-protein coding RNA 377 [Gene - HGNC]
  • LINC00379:long intergenic non-protein coding RNA 379 [Gene - HGNC]
  • LINC00380:long intergenic non-protein coding RNA 380 [Gene - HGNC]
  • LINC00381:long intergenic non-protein coding RNA 381 [Gene - HGNC]
  • LINC00382:long intergenic non-protein coding RNA 382 [Gene - HGNC]
  • LINC00396:long intergenic non-protein coding RNA 396 [Gene - HGNC]
  • LINC00397:long intergenic non-protein coding RNA 397 [Gene - HGNC]
  • LINC00399:long intergenic non-protein coding RNA 399 [Gene - HGNC]
  • LINC00410:long intergenic non-protein coding RNA 410 [Gene - HGNC]
  • LINC00411:long intergenic non-protein coding RNA 411 [Gene - HGNC]
  • LINC00430:long intergenic non-protein coding RNA 430 [Gene - HGNC]
  • LINC00431:long intergenic non-protein coding RNA 431 [Gene - HGNC]
  • LINC00433:long intergenic non-protein coding RNA 433 [Gene - HGNC]
  • LINC00440:long intergenic non-protein coding RNA 440 [Gene - HGNC]
  • LINC00443:long intergenic non-protein coding RNA 443 [Gene - HGNC]
  • LINC00446:long intergenic non-protein coding RNA 446 [Gene - HGNC]
  • LINC00449:long intergenic non-protein coding RNA 449 [Gene - HGNC]
  • LINC00452:long intergenic non-protein coding RNA 452 [Gene - HGNC]
  • LINC00454:long intergenic non-protein coding RNA 454 [Gene - HGNC]
  • LINC00456:long intergenic non-protein coding RNA 456 [Gene - HGNC]
  • LINC00460:long intergenic non-protein coding RNA 460 [Gene - HGNC]
  • LINC00551:long intergenic non-protein coding RNA 551 [Gene - HGNC]
  • LINC00552:long intergenic non-protein coding RNA 552 [Gene - HGNC]
  • LINC00554:long intergenic non-protein coding RNA 554 [Gene - HGNC]
  • LINC00557:long intergenic non-protein coding RNA 557 [Gene - HGNC]
  • LINC00559:long intergenic non-protein coding RNA 559 [Gene - HGNC]
  • LINC00560:long intergenic non-protein coding RNA 560 [Gene - HGNC]
  • LINC00561:long intergenic non-protein coding RNA 561 [Gene - HGNC]
  • LINC00564:long intergenic non-protein coding RNA 564 [Gene - HGNC]
  • LINC00565:long intergenic non-protein coding RNA 565 [Gene - HGNC]
  • LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
  • LINC00676:long intergenic non-protein coding RNA 676 [Gene - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • METTL21C:methyltransferase like 21C [Gene - OMIM - HGNC]
  • MIR17HG:miR-17-92a-1 cluster host gene [Gene - OMIM - HGNC]
  • MIR1267:microRNA 1267 [Gene - HGNC]
  • MIR17:microRNA 17 [Gene - OMIM - HGNC]
  • MIR18A:microRNA 18a [Gene - OMIM - HGNC]
  • MIR19A:microRNA 19a [Gene - OMIM - HGNC]
  • MIR19B1:microRNA 19b-1 [Gene - OMIM - HGNC]
  • MIR20A:microRNA 20a [Gene - OMIM - HGNC]
  • MIR2681:microRNA 2681 [Gene - HGNC]
  • MIR3170:microRNA 3170 [Gene - HGNC]
  • MIR3665:microRNA 3665 [Gene - HGNC]
  • MIR4306:microRNA 4306 [Gene - HGNC]
  • MIR4500:microRNA 4500 [Gene - HGNC]
  • MIR4501:microRNA 4501 [Gene - HGNC]
  • MIR4502:microRNA 4502 [Gene - HGNC]
  • MIR4705:microRNA 4705 [Gene - HGNC]
  • MIR548AR:microRNA 548ar [Gene - HGNC]
  • MIR548AS:microRNA 548as [Gene - HGNC]
  • MIR622:microRNA 622 [Gene - HGNC]
  • MIR623:microRNA 623 [Gene - HGNC]
  • MIR8073:microRNA 8073 [Gene - HGNC]
  • MIR8075:microRNA 8075 [Gene - HGNC]
  • MIR92A1:microRNA 92a-1 [Gene - OMIM - HGNC]
  • MBNL2:muscleblind like splicing regulator 2 [Gene - OMIM - HGNC]
  • MYO16:myosin XVI [Gene - OMIM - HGNC]
  • OXGR1:oxoglutarate receptor 1 [Gene - OMIM - HGNC]
  • PRECSIT:p53 regulated carcinoma associated Stat3 activating long intergenic non-protein coding transcript [Gene - HGNC]
  • KCTD12:potassium channel tetramerization domain containing 12 [Gene - OMIM - HGNC]
  • PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
  • POGLUT2:protein O-glucosyltransferase 2 [Gene - OMIM - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • LOC100129307:putative UPF0607 protein ENSP00000383144 [Gene]
  • RNF113B:ring finger protein 113B [Gene - HGNC]
  • SCEL:sciellin [Gene - OMIM - HGNC]
  • STK24:serine/threonine kinase 24 [Gene - OMIM - HGNC]
  • SNORD13G:small nucleolar RNA, C/D box 13G [Gene - HGNC]
  • SNORD31B:small nucleolar RNA, C/D box 31B [Gene - HGNC]
  • SNORA107:small nucleolar RNA, H/ACA box 107 [Gene - HGNC]
  • NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]
  • SLC10A2:solute carrier family 10 member 2 [Gene - OMIM - HGNC]
  • SLC15A1:solute carrier family 15 member 1 [Gene - OMIM - HGNC]
  • SPACA7:sperm acrosome associated 7 [Gene - HGNC]
  • SPRY2:sprouty RTK signaling antagonist 2 [Gene - OMIM - HGNC]
  • TRF-GAA1-5:tRNA-Phe (anticodon GAA) 1-5 [Gene - HGNC]
  • TEX29:testis expressed 29 [Gene - HGNC]
  • TEX30:testis expressed 30 [Gene - HGNC]
  • TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
  • LOC105376684:translation initiation factor IF-2-like [Gene]
  • TM9SF2:transmembrane 9 superfamily member 2 [Gene - OMIM - HGNC]
  • TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
  • TPP2:tripeptidyl peptidase 2 [Gene - OMIM - HGNC]
  • TUBGCP3:tubulin gamma complex associated protein 3 [Gene - OMIM - HGNC]
  • UCHL3:ubiquitin C-terminal hydrolase L3 [Gene - OMIM - HGNC]
  • LOC100288208:uncharacterized LOC100288208 [Gene]
  • LOC100506016:uncharacterized LOC100506016 [Gene]
  • LOC101060553:uncharacterized LOC101060553 [Gene]
  • LOC101927248:uncharacterized LOC101927248 [Gene]
  • LOC101927284:uncharacterized LOC101927284 [Gene]
  • LOC101927437:uncharacterized LOC101927437 [Gene]
  • LOC101928730:uncharacterized LOC101928730 [Gene]
  • LOC105370361:uncharacterized LOC105370361 [Gene]
  • LOC105370362:uncharacterized LOC105370362 [Gene]
  • LOC112268114:uncharacterized LOC112268114 [Gene]
  • LOC780529:uncharacterized LOC780529 [Gene]
Variant type:
copy number gain
Cytogenetic location:
13q22.1-34
Genomic location:
Preferred name:
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3
HGVS:
  • NC_000013.11:g.(?_74345951)_(114327314_?)dup
  • NC_000013.10:g.(?_74920088)_(115085141_?)dup
  • NC_000013.9:g.(?_73818089)_(114110891_?)dup
Links:
dbVar: nssv578654; dbVar: nsv532428
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
SCV000081133ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

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 ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000081133.4

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

Last Updated: Dec 31, 2019

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