GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Mar 18, 2014)

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:
RCV000143748.3

Allele description [Variation Report for GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3]

GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3

Genes:
  • AKAP6:A-kinase anchoring protein 6 [Gene - OMIM - HGNC]
  • ARHGAP5-AS1:ARHGAP5 antisense RNA 1 (head to head) [Gene - HGNC]
  • BCL2L2:BCL2 like 2 [Gene - OMIM - HGNC]
  • BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]
  • BRMS1L:BRMS1 like transcriptional repressor [Gene - OMIM - HGNC]
  • CLEC14A:C-type lectin domain containing 14A [Gene - OMIM - HGNC]
  • CEBPE:CCAAT enhancer binding protein epsilon [Gene - OMIM - HGNC]
  • CMTM5:CKLF like MARVEL transmembrane domain containing 5 [Gene - OMIM - HGNC]
  • DTD2:D-aminoacyl-tRNA deacylase 2 [Gene - HGNC]
  • DCAF11:DDB1 and CUL4 associated factor 11 [Gene - OMIM - HGNC]
  • DHRS4-AS1:DHRS4 antisense RNA 1 [Gene - OMIM - HGNC]
  • EAPP:E2F associated phosphoprotein [Gene - OMIM - HGNC]
  • EGLN3-AS1:EGLN3 antisense RNA 1 [Gene - HGNC]
  • EMC9:ER membrane protein complex subunit 9 [Gene - HGNC]
  • FBXO33:F-box protein 33 [Gene - OMIM - HGNC]
  • FANCM:FA complementation group M [Gene - OMIM - HGNC]
  • FKBP3:FKBP prolyl isomerase 3 [Gene - OMIM - HGNC]
  • LOC111500315:FOXA motif-containing MPRA enhancer 271 [Gene]
  • FOXG1-AS1:FOXG1 antisense RNA 1 [Gene - HGNC]
  • GPR33:G protein-coupled receptor 33 (gene/pseudogene) [Gene - OMIM - HGNC]
  • G2E3:G2/M-phase specific E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • G2E3-AS1:G2E3 antisense RNA 1 [Gene - HGNC]
  • LOC111365217:GATA motif-containing MPRA enhancer 110 [Gene]
  • HAUS4:HAUS augmin like complex subunit 4 [Gene - OMIM - HGNC]
  • HEATR5A:HEAT repeat containing 5A [Gene - HGNC]
  • HECTD1:HECT domain E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • INSM2:INSM transcriptional repressor 2 [Gene - OMIM - HGNC]
  • KHNYN:KH and NYN domain containing [Gene - HGNC]
  • LRP10:LDL receptor related protein 10 [Gene - OMIM - HGNC]
  • MDGA2:MAM domain containing glycosylphosphatidylinositol anchor 2 [Gene - OMIM - HGNC]
  • MBIP:MAP3K12 binding inhibitory protein 1 [Gene - OMIM - HGNC]
  • MIA2:MIA SH3 domain ER export factor 2 [Gene - OMIM - HGNC]
  • MIR4307HG:MIR4307 host gene [Gene - HGNC]
  • MIS18BP1:MIS18 binding protein 1 [Gene - OMIM - HGNC]
  • NDRG2:NDRG family member 2 [Gene - OMIM - HGNC]
  • NEDD8:NEDD8 ubiquitin like modifier [Gene - OMIM - HGNC]
  • NEDD8-MDP1:NEDD8-MDP1 readthrough [Gene - HGNC]
  • NFKBIA:NFKB inhibitor alpha [Gene - OMIM - HGNC]
  • NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
  • NKX2-8:NK2 homeobox 8 [Gene - OMIM - HGNC]
  • NKX2-1-AS1:NKX2-1 antisense RNA 1 [Gene - HGNC]
  • NOP9:NOP9 nucleolar protein [Gene - OMIM - HGNC]
  • NOVA1:NOVA alternative splicing regulator 1 [Gene - OMIM - HGNC]
  • NYNRIN:NYN domain and retroviral integrase containing [Gene - HGNC]
  • OSGEP:O-sialoglycoprotein endopeptidase [Gene - OMIM - HGNC]
  • LOC107372315:OSGEP/APEX1 bi-directional promoter region [Gene]
  • OXA1L:OXA1L mitochondrial inner membrane protein [Gene - OMIM - HGNC]
  • LOC108281111:PAX9 promoter region [Gene]
  • PRMT5-AS1:PRMT5 antisense RNA 1 [Gene - HGNC]
  • LOC108281128:PSMA6-RPLP0P3 intergenic CAGE-defined low expression enhancer [Gene]
  • RAB2B:RAB2B, member RAS oncogene family [Gene - OMIM - HGNC]
  • REC8:REC8 meiotic recombination protein [Gene - OMIM - HGNC]
  • RBM23:RNA binding motif protein 23 [Gene - HGNC]
  • RNU6-7:RNA, U6 small nuclear 7 [Gene - HGNC]
  • RNU6-8:RNA, U6 small nuclear 8 [Gene - HGNC]
  • RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]
  • REM2:RRAD and GEM like GTPase 2 [Gene - OMIM - HGNC]
  • RABGGTA:Rab geranylgeranyltransferase subunit alpha [Gene - OMIM - HGNC]
  • RALGAPA1:Ral GTPase activating protein catalytic subunit alpha 1 [Gene - OMIM - HGNC]
  • ARHGAP5:Rho GTPase activating protein 5 [Gene - OMIM - HGNC]
  • ARHGEF40:Rho guanine nucleotide exchange factor 40 [Gene - OMIM - HGNC]
  • SEC23A-AS1:SEC23A antisense RNA 1 [Gene - HGNC]
  • SLC25A21-AS1:SLC25A21 antisense RNA 1 [Gene - HGNC]
  • SUPT16H:SPT16 homolog, facilitates chromatin remodeling subunit [Gene - OMIM - HGNC]
  • SRP54-AS1:SRP54 antisense RNA 1 (head to head) [Gene - HGNC]
  • SEC23A:Sec23 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
  • LOC112267849:Sharpr-MPRA regulatory region 10629 [Gene]
  • LOC112267854:Sharpr-MPRA regulatory region 11779 [Gene]
  • LOC112267853:Sharpr-MPRA regulatory region 11850 [Gene]
  • LOC112214176:Sharpr-MPRA regulatory region 11879 [Gene]
  • LOC112267852:Sharpr-MPRA regulatory region 1279 [Gene]
  • LOC112214171:Sharpr-MPRA regulatory region 15263 [Gene]
  • LOC112268478:Sharpr-MPRA regulatory region 2297 [Gene]
  • LOC112267851:Sharpr-MPRA regulatory region 3923 [Gene]
  • LOC112267850:Sharpr-MPRA regulatory region 5945 [Gene]
  • LOC112214175:Sharpr-MPRA regulatory region 809 [Gene]
  • LOC112214170:Sharpr-MPRA regulatory region 8185 [Gene]
  • LOC112268479:Sharpr-MPRA regulatory region 8744 [Gene]
  • LOC112214174:Sharpr-MPRA regulatory region 964 [Gene]
  • TRAC:T cell receptor alpha constant [Gene - OMIM - HGNC]
  • TRAJ1:T cell receptor alpha joining 1 (non-functional) [Gene - HGNC]
  • TRAJ10:T cell receptor alpha joining 10 [Gene - HGNC]
  • TRAJ11:T cell receptor alpha joining 11 [Gene - HGNC]
  • TRAJ12:T cell receptor alpha joining 12 [Gene - HGNC]
  • TRAJ13:T cell receptor alpha joining 13 [Gene - HGNC]
  • TRAJ14:T cell receptor alpha joining 14 [Gene - HGNC]
  • TRAJ15:T cell receptor alpha joining 15 [Gene - HGNC]
  • TRAJ16:T cell receptor alpha joining 16 [Gene - HGNC]
  • TRAJ17:T cell receptor alpha joining 17 [Gene - HGNC]
  • TRAJ18:T cell receptor alpha joining 18 [Gene - HGNC]
  • TRAJ19:T cell receptor alpha joining 19 (non-functional) [Gene - HGNC]
  • TRAJ2:T cell receptor alpha joining 2 (non-functional) [Gene - HGNC]
  • TRAJ20:T cell receptor alpha joining 20 [Gene - HGNC]
  • TRAJ21:T cell receptor alpha joining 21 [Gene - HGNC]
  • TRAJ22:T cell receptor alpha joining 22 [Gene - HGNC]
  • TRAJ23:T cell receptor alpha joining 23 [Gene - HGNC]
  • TRAJ24:T cell receptor alpha joining 24 [Gene - HGNC]
  • TRAJ25:T cell receptor alpha joining 25 (non-functional) [Gene - HGNC]
  • TRAJ26:T cell receptor alpha joining 26 [Gene - HGNC]
  • TRAJ27:T cell receptor alpha joining 27 [Gene - HGNC]
  • TRAJ28:T cell receptor alpha joining 28 [Gene - HGNC]
  • TRAJ29:T cell receptor alpha joining 29 [Gene - HGNC]
  • TRAJ30:T cell receptor alpha joining 30 [Gene - HGNC]
  • TRAJ31:T cell receptor alpha joining 31 [Gene - HGNC]
  • TRAJ32:T cell receptor alpha joining 32 [Gene - HGNC]
  • TRAJ33:T cell receptor alpha joining 33 [Gene - HGNC]
  • TRAJ34:T cell receptor alpha joining 34 [Gene - HGNC]
  • TRAJ35:T cell receptor alpha joining 35 (non-functional) [Gene - HGNC]
  • TRAJ36:T cell receptor alpha joining 36 [Gene - HGNC]
  • TRAJ37:T cell receptor alpha joining 37 [Gene - HGNC]
  • TRAJ38:T cell receptor alpha joining 38 [Gene - HGNC]
  • TRAJ39:T cell receptor alpha joining 39 [Gene - HGNC]
  • TRAJ3:T cell receptor alpha joining 3 [Gene - HGNC]
  • TRAJ40:T cell receptor alpha joining 40 [Gene - HGNC]
  • TRAJ41:T cell receptor alpha joining 41 [Gene - HGNC]
  • TRAJ42:T cell receptor alpha joining 42 [Gene - HGNC]
  • TRAJ43:T cell receptor alpha joining 43 [Gene - HGNC]
  • TRAJ44:T cell receptor alpha joining 44 [Gene - HGNC]
  • TRAJ45:T cell receptor alpha joining 45 [Gene - HGNC]
  • TRAJ46:T cell receptor alpha joining 46 [Gene - HGNC]
  • TRAJ47:T cell receptor alpha joining 47 [Gene - HGNC]
  • TRAJ48:T cell receptor alpha joining 48 [Gene - HGNC]
  • TRAJ49:T cell receptor alpha joining 49 [Gene - HGNC]
  • TRAJ4:T cell receptor alpha joining 4 [Gene - HGNC]
  • TRAJ50:T cell receptor alpha joining 50 [Gene - HGNC]
  • TRAJ52:T cell receptor alpha joining 52 [Gene - HGNC]
  • TRAJ53:T cell receptor alpha joining 53 [Gene - HGNC]
  • TRAJ54:T cell receptor alpha joining 54 [Gene - HGNC]
  • TRAJ56:T cell receptor alpha joining 56 [Gene - HGNC]
  • TRAJ57:T cell receptor alpha joining 57 [Gene - HGNC]
  • TRAJ58:T cell receptor alpha joining 58 (non-functional) [Gene - HGNC]
  • TRAJ59:T cell receptor alpha joining 59 (non-functional) [Gene - HGNC]
  • TRAJ5:T cell receptor alpha joining 5 [Gene - HGNC]
  • TRAJ61:T cell receptor alpha joining 61 (non-functional) [Gene - HGNC]
  • TRAJ6:T cell receptor alpha joining 6 [Gene - HGNC]
  • TRAJ7:T cell receptor alpha joining 7 [Gene - HGNC]
  • TRAJ8:T cell receptor alpha joining 8 [Gene - HGNC]
  • TRAJ9:T cell receptor alpha joining 9 [Gene - HGNC]
  • TRA:T cell receptor alpha locus [Gene - HGNC]
  • TRAV1-1:T cell receptor alpha variable 1-1 [Gene - HGNC]
  • TRAV1-2:T cell receptor alpha variable 1-2 [Gene - HGNC]
  • TRAV10:T cell receptor alpha variable 10 [Gene - HGNC]
  • TRAV12-1:T cell receptor alpha variable 12-1 [Gene - HGNC]
  • TRAV12-2:T cell receptor alpha variable 12-2 [Gene - HGNC]
  • TRAV12-3:T cell receptor alpha variable 12-3 [Gene - HGNC]
  • TRAV13-1:T cell receptor alpha variable 13-1 [Gene - HGNC]
  • TRAV13-2:T cell receptor alpha variable 13-2 [Gene - HGNC]
  • TRAV14DV4:T cell receptor alpha variable 14/delta variable 4 [Gene - HGNC]
  • TRAV16:T cell receptor alpha variable 16 [Gene - HGNC]
  • TRAV17:T cell receptor alpha variable 17 [Gene - HGNC]
  • TRAV18:T cell receptor alpha variable 18 [Gene - HGNC]
  • TRAV19:T cell receptor alpha variable 19 [Gene - HGNC]
  • TRAV20:T cell receptor alpha variable 20 [Gene - HGNC]
  • TRAV21:T cell receptor alpha variable 21 [Gene - HGNC]
  • TRAV22:T cell receptor alpha variable 22 [Gene - HGNC]
  • TRAV23DV6:T cell receptor alpha variable 23/delta variable 6 [Gene - HGNC]
  • TRAV24:T cell receptor alpha variable 24 [Gene - HGNC]
  • TRAV25:T cell receptor alpha variable 25 [Gene - HGNC]
  • TRAV26-1:T cell receptor alpha variable 26-1 [Gene - HGNC]
  • TRAV26-2:T cell receptor alpha variable 26-2 [Gene - HGNC]
  • TRAV27:T cell receptor alpha variable 27 [Gene - HGNC]
  • TRAV29DV5:T cell receptor alpha variable 29/delta variable 5 (gene/pseudogene) [Gene - HGNC]
  • TRAV2:T cell receptor alpha variable 2 [Gene - HGNC]
  • TRAV3:T cell receptor alpha variable 3 (gene/pseudogene) [Gene - HGNC]
  • TRAV30:T cell receptor alpha variable 30 [Gene - HGNC]
  • TRAV34:T cell receptor alpha variable 34 [Gene - HGNC]
  • TRAV35:T cell receptor alpha variable 35 [Gene - HGNC]
  • TRAV36DV7:T cell receptor alpha variable 36/delta variable 7 [Gene - HGNC]
  • TRAV38-1:T cell receptor alpha variable 38-1 [Gene - HGNC]
  • TRAV38-2DV8:T cell receptor alpha variable 38-2/delta variable 8 [Gene - HGNC]
  • TRAV39:T cell receptor alpha variable 39 [Gene - HGNC]
  • TRAV40:T cell receptor alpha variable 40 [Gene - HGNC]
  • TRAV41:T cell receptor alpha variable 41 [Gene - HGNC]
  • TRAV4:T cell receptor alpha variable 4 [Gene - HGNC]
  • TRAV5:T cell receptor alpha variable 5 [Gene - HGNC]
  • TRAV6:T cell receptor alpha variable 6 [Gene - HGNC]
  • TRAV7:T cell receptor alpha variable 7 [Gene - HGNC]
  • TRAV8-1:T cell receptor alpha variable 8-1 [Gene - HGNC]
  • TRAV8-2:T cell receptor alpha variable 8-2 [Gene - HGNC]
  • TRAV8-3:T cell receptor alpha variable 8-3 [Gene - HGNC]
  • TRAV8-4:T cell receptor alpha variable 8-4 [Gene - HGNC]
  • TRAV8-6:T cell receptor alpha variable 8-6 [Gene - HGNC]
  • TRAV8-7:T cell receptor alpha variable 8-7 (non-functional) [Gene - HGNC]
  • TRAV9-1:T cell receptor alpha variable 9-1 [Gene - HGNC]
  • TRAV9-2:T cell receptor alpha variable 9-2 [Gene - HGNC]
  • TRDC:T cell receptor delta constant [Gene - OMIM - HGNC]
  • TRDD1:T cell receptor delta diversity 1 [Gene - HGNC]
  • TRDD2:T cell receptor delta diversity 2 [Gene - HGNC]
  • TRDD3:T cell receptor delta diversity 3 [Gene - HGNC]
  • TRDJ1:T cell receptor delta joining 1 [Gene - HGNC]
  • TRDJ2:T cell receptor delta joining 2 [Gene - HGNC]
  • TRDJ3:T cell receptor delta joining 3 [Gene - HGNC]
  • TRDJ4:T cell receptor delta joining 4 [Gene - HGNC]
  • TRD:T cell receptor delta locus [Gene - HGNC]
  • TRDV1:T cell receptor delta variable 1 [Gene - HGNC]
  • TRDV2:T cell receptor delta variable 2 [Gene - HGNC]
  • TRDV3:T cell receptor delta variable 3 [Gene - HGNC]
  • TINF2:TERF1 interacting nuclear factor 2 [Gene - OMIM - HGNC]
  • LOC107882126:TGM1 promoter region [Gene]
  • TOGARAM1:TOG array regulator of axonemal microtubules 1 [Gene - OMIM - HGNC]
  • TOX4:TOX high mobility group box family member 4 [Gene - OMIM - HGNC]
  • LOC110121319:VISTA enhancer hs1064 [Gene]
  • LOC110121326:VISTA enhancer hs1166 [Gene]
  • LOC110121327:VISTA enhancer hs1168 [Gene]
  • LOC110121391:VISTA enhancer hs1538 [Gene]
  • LOC110121392:VISTA enhancer hs1539 [Gene]
  • LOC110121424:VISTA enhancer hs1670 [Gene]
  • LOC110121433:VISTA enhancer hs1705 [Gene]
  • LOC114827851:VISTA enhancer hs2155 [Gene]
  • LOC110121504:VISTA enhancer hs2330 [Gene]
  • LOC110120857:VISTA enhancer hs348 [Gene]
  • LOC110120874:VISTA enhancer hs428 [Gene]
  • LOC110120876:VISTA enhancer hs433 [Gene]
  • LOC110120895:VISTA enhancer hs566 [Gene]
  • LOC110120901:VISTA enhancer hs592 [Gene]
  • LOC110120902:VISTA enhancer hs593 [Gene]
  • LOC110120904:VISTA enhancer hs598 [Gene]
  • LOC110120925:VISTA enhancer hs704 [Gene]
  • LOC110120856:VISTA enhancers hs342 and hs1523 [Gene]
  • ABHD4:abhydrolase domain containing 4 [Gene - HGNC]
  • AP1G2:adaptor related protein complex 1 subunit gamma 2 [Gene - OMIM - HGNC]
  • AP4S1:adaptor related protein complex 4 subunit sigma 1 [Gene - OMIM - HGNC]
  • ADCY4:adenylate cyclase 4 [Gene - OMIM - HGNC]
  • AJUBA:ajuba LIM protein [Gene - OMIM - HGNC]
  • ANG:angiogenin [Gene - OMIM - HGNC]
  • ACIN1:apoptotic chromatin condensation inducer 1 [Gene - OMIM - HGNC]
  • APEX1:apurinic/apyrimidinic endodeoxyribonuclease 1 [Gene - OMIM - HGNC]
  • BAZ1A:bromodomain adjacent to zinc finger domain 1A [Gene - OMIM - HGNC]
  • CDH24:cadherin 24 [Gene - OMIM - HGNC]
  • CARMIL3:capping protein regulator and myosin 1 linker 3 [Gene - OMIM - HGNC]
  • CTSG:cathepsin G [Gene - OMIM - HGNC]
  • CIDEB:cell death inducing DFFA like effector b [Gene - OMIM - HGNC]
  • CBLN3:cerebellin 3 precursor [Gene - OMIM - HGNC]
  • CHMP4A:charged multivesicular body protein 4A [Gene - OMIM - HGNC]
  • CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]
  • C14orf119:chromosome 14 open reading frame 119 [Gene - HGNC]
  • C14orf28:chromosome 14 open reading frame 28 [Gene - HGNC]
  • C14orf93:chromosome 14 open reading frame 93 [Gene - HGNC]
  • CMA1:chymase 1 [Gene - OMIM - HGNC]
  • COCH:cochlin [Gene - OMIM - HGNC]
  • CFL2:cofilin 2 [Gene - OMIM - HGNC]
  • CPNE6:copine 6 [Gene - OMIM - HGNC]
  • CCNB1IP1:cyclin B1 interacting protein 1 [Gene - OMIM - HGNC]
  • DAD1:defender against cell death 1 [Gene - OMIM - HGNC]
  • DHRS1:dehydrogenase/reductase 1 [Gene - OMIM - HGNC]
  • DHRS2:dehydrogenase/reductase 2 [Gene - OMIM - HGNC]
  • DHRS4L1:dehydrogenase/reductase 4 like 1 [Gene - OMIM - HGNC]
  • DHRS4L2:dehydrogenase/reductase 4 like 2 [Gene - OMIM - HGNC]
  • DHRS4:dehydrogenase/reductase 4 [Gene - OMIM - HGNC]
  • EGLN3:egl-9 family hypoxia inducible factor 3 [Gene - OMIM - HGNC]
  • EFS:embryonal Fyn-associated substrate [Gene - OMIM - HGNC]
  • EDDM3A:epididymal protein 3A [Gene - OMIM - HGNC]
  • EDDM3B:epididymal protein 3B [Gene - OMIM - HGNC]
  • FAM177A1:family with sequence similarity 177 member A1 [Gene - HGNC]
  • FITM1:fat storage inducing transmembrane protein 1 [Gene - OMIM - HGNC]
  • FSCB:fibrous sheath CABYR binding protein [Gene - OMIM - HGNC]
  • FOXA1:forkhead box A1 [Gene - OMIM - HGNC]
  • FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
  • GEMIN2:gem nuclear organelle associated protein 2 [Gene - OMIM - HGNC]
  • GZMB:granzyme B [Gene - OMIM - HGNC]
  • GZMH:granzyme H [Gene - OMIM - HGNC]
  • GMPR2:guanosine monophosphate reductase 2 [Gene - OMIM - HGNC]
  • HNRNPC:heterogeneous nuclear ribonucleoprotein C [Gene - OMIM - HGNC]
  • HOMEZ:homeobox and leucine zipper encoding [Gene - OMIM - HGNC]
  • IPO4:importin 4 [Gene - HGNC]
  • IRF9:interferon regulatory factor 9 [Gene - OMIM - HGNC]
  • IL25:interleukin 25 [Gene - OMIM - HGNC]
  • JPH4:junctophilin 4 [Gene - HGNC]
  • KLHL28:kelch like family member 28 [Gene - HGNC]
  • KLHL33:kelch like family member 33 [Gene - HGNC]
  • LMLN2:leishmanolysin like peptidase 2 [Gene - HGNC]
  • LRFN5:leucine rich repeat and fibronectin type III domain containing 5 [Gene - OMIM - HGNC]
  • LTB4R2:leukotriene B4 receptor 2 [Gene - OMIM - HGNC]
  • LTB4R:leukotriene B4 receptor [Gene - OMIM - HGNC]
  • LINC01551:long intergenic non-protein coding RNA 1551 [Gene - HGNC]
  • LINC02281:long intergenic non-protein coding RNA 2281 [Gene - HGNC]
  • LINC02282:long intergenic non-protein coding RNA 2282 [Gene - HGNC]
  • LINC02286:long intergenic non-protein coding RNA 2286 [Gene - HGNC]
  • LINC02293:long intergenic non-protein coding RNA 2293 [Gene - HGNC]
  • LINC02294:long intergenic non-protein coding RNA 2294 [Gene - HGNC]
  • LINC02300:long intergenic non-protein coding RNA 2300 [Gene - HGNC]
  • LINC02302:long intergenic non-protein coding RNA 2302 [Gene - HGNC]
  • LINC02303:long intergenic non-protein coding RNA 2303 [Gene - HGNC]
  • LINC02307:long intergenic non-protein coding RNA 2307 [Gene - HGNC]
  • LINC02313:long intergenic non-protein coding RNA 2313 [Gene - HGNC]
  • LINC02315:long intergenic non-protein coding RNA 2315 [Gene - HGNC]
  • LINC02326:long intergenic non-protein coding RNA 2326 [Gene - HGNC]
  • LINC02327:long intergenic non-protein coding RNA 2327 [Gene - HGNC]
  • LINC02332:long intergenic non-protein coding RNA 2332 [Gene - HGNC]
  • LINC02588:long intergenic non-protein coding RNA 2588 [Gene - HGNC]
  • LINC00517:long intergenic non-protein coding RNA 517 [Gene - HGNC]
  • LINC00596:long intergenic non-protein coding RNA 596 [Gene - HGNC]
  • LINC00596:long intergenic non-protein coding RNA 596 [Gene - HGNC]
  • LINC00609:long intergenic non-protein coding RNA 609 [Gene - HGNC]
  • LINC00639:long intergenic non-protein coding RNA 639 [Gene - HGNC]
  • LINC00641:long intergenic non-protein coding RNA 641 [Gene - HGNC]
  • LINC00645:long intergenic non-protein coding RNA 645 [Gene - HGNC]
  • LINC00648:long intergenic non-protein coding RNA 648 [Gene - HGNC]
  • LINC00871:long intergenic non-protein coding RNA 871 [Gene - HGNC]
  • MDP1:magnesium dependent phosphatase 1 [Gene - HGNC]
  • MMP14:matrix metallopeptidase 14 [Gene - OMIM - HGNC]
  • METTL17:methyltransferase like 17 [Gene - OMIM - HGNC]
  • METTL3:methyltransferase like 3 [Gene - OMIM - HGNC]
  • MIR208A:microRNA 208a [Gene - OMIM - HGNC]
  • MIR208B:microRNA 208b [Gene - OMIM - HGNC]
  • MIR3171:microRNA 3171 [Gene - HGNC]
  • MIR4307:microRNA 4307 [Gene - HGNC]
  • MIR4503:microRNA 4503 [Gene - HGNC]
  • MIR4707:microRNA 4707 [Gene - HGNC]
  • MIR548Y:microRNA 548y [Gene - HGNC]
  • MIR624:microRNA 624 [Gene - HGNC]
  • MIR6717:microRNA 6717 [Gene - HGNC]
  • MIR7703:microRNA 7703 [Gene - HGNC]
  • MIPOL1:mirror-image polydactyly 1 [Gene - OMIM - HGNC]
  • MRPL52:mitochondrial ribosomal protein L52 [Gene - OMIM - HGNC]
  • MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
  • MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
  • MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
  • NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
  • NGDN:neuroguidin [Gene - OMIM - HGNC]
  • NPAS3:neuronal PAS domain protein 3 [Gene - OMIM - HGNC]
  • LOC106799848:nonconserved acetylation island sequence 117a enhancer [Gene]
  • LOC106799849:nonconserved acetylation island sequence 117b enhancer [Gene]
  • LOC106799836:nonconserved acetylation island sequence 81 enhancer [Gene]
  • NFATC4:nuclear factor of activated T cells 4 [Gene - OMIM - HGNC]
  • NUBPL:nucleotide binding protein like [Gene - OMIM - HGNC]
  • OR10G2:olfactory receptor family 10 subfamily G member 2 [Gene - HGNC]
  • OR10G3:olfactory receptor family 10 subfamily G member 3 [Gene - HGNC]
  • OR11G2:olfactory receptor family 11 subfamily G member 2 [Gene - HGNC]
  • OR11H4:olfactory receptor family 11 subfamily H member 4 [Gene - HGNC]
  • OR11H6:olfactory receptor family 11 subfamily H member 6 [Gene - HGNC]
  • OR11H7:olfactory receptor family 11 subfamily H member 7 (gene/pseudogene) [Gene - HGNC]
  • OR4E1:olfactory receptor family 4 subfamily E member 1 (gene/pseudogene) [Gene - HGNC]
  • OR4E2:olfactory receptor family 4 subfamily E member 2 (gene/pseudogene) [Gene - HGNC]
  • OR4K17:olfactory receptor family 4 subfamily K member 17 [Gene - HGNC]
  • OR4L1:olfactory receptor family 4 subfamily L member 1 (gene/pseudogene) [Gene - HGNC]
  • OR4N5:olfactory receptor family 4 subfamily N member 5 [Gene - HGNC]
  • OR5AU1:olfactory receptor family 5 subfamily AU member 1 [Gene - HGNC]
  • OR6J1:olfactory receptor family 6 subfamily J member 1 (gene/pseudogene) [Gene - HGNC]
  • OR6S1:olfactory receptor family 6 subfamily S member 1 [Gene - HGNC]
  • PAX9:paired box 9 [Gene - OMIM - HGNC]
  • PTCSC3:papillary thyroid carcinoma susceptibility candidate 3 [Gene - OMIM - HGNC]
  • PIP4P1:phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 [Gene - OMIM - HGNC]
  • PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]
  • PNN:pinin, desmosome associated protein [Gene - OMIM - HGNC]
  • PABPN1:poly(A) binding protein nuclear 1 [Gene - OMIM - HGNC]
  • PARP2:poly(ADP-ribose) polymerase 2 [Gene - OMIM - HGNC]
  • PRPF39:pre-mRNA processing factor 39 [Gene - OMIM - HGNC]
  • PSMA6:proteasome 20S subunit alpha 6 [Gene - OMIM - HGNC]
  • PSMB5:proteasome 20S subunit beta 5 [Gene - OMIM - HGNC]
  • PSME1:proteasome activator subunit 1 [Gene - OMIM - HGNC]
  • PSME2:proteasome activator subunit 2 [Gene - OMIM - HGNC]
  • PSMB11:proteasome subunit beta 11 [Gene - OMIM - HGNC]
  • PRMT5:protein arginine methyltransferase 5 [Gene - OMIM - HGNC]
  • PRKD1:protein kinase D1 [Gene - OMIM - HGNC]
  • PRORP:protein only RNase P catalytic subunit [Gene - OMIM - HGNC]
  • PPP1R3E:protein phosphatase 1 regulatory subunit 3E [Gene - HGNC]
  • PPP2R3C:protein phosphatase 2 regulatory subunit B''gamma [Gene - OMIM - HGNC]
  • PNP:purine nucleoside phosphorylase [Gene - OMIM - HGNC]
  • RIPK3:receptor interacting serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • RNASE1:ribonuclease A family member 1, pancreatic [Gene - OMIM - HGNC]
  • RNASE10:ribonuclease A family member 10 (inactive) [Gene - HGNC]
  • RNASE11:ribonuclease A family member 11 (inactive) [Gene - HGNC]
  • RNASE12:ribonuclease A family member 12 (inactive) [Gene - HGNC]
  • RNASE13:ribonuclease A family member 13 (inactive) [Gene - HGNC]
  • RNASE2:ribonuclease A family member 2 [Gene - OMIM - HGNC]
  • RNASE3:ribonuclease A family member 3 [Gene - OMIM - HGNC]
  • RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]
  • RNASE7:ribonuclease A family member 7 [Gene - OMIM - HGNC]
  • RNASE8:ribonuclease A family member 8 [Gene - OMIM - HGNC]
  • RNASE9:ribonuclease A family member 9 (inactive) [Gene - OMIM - HGNC]
  • RNASE6:ribonuclease A family member k6 [Gene - OMIM - HGNC]
  • RPPH1:ribonuclease P RNA component H1 [Gene - OMIM - HGNC]
  • RPL10L:ribosomal protein L10 like [Gene - HGNC]
  • RNF212B:ring finger protein 212B [Gene - HGNC]
  • RNF31:ring finger protein 31 [Gene - OMIM - HGNC]
  • SCFD1:sec1 family domain containing 1 [Gene - OMIM - HGNC]
  • SPTSSA:serine palmitoyltransferase small subunit A [Gene - OMIM - HGNC]
  • SDR39U1:short chain dehydrogenase/reductase family 39U member 1 [Gene - OMIM - HGNC]
  • SRP54:signal recognition particle 54 [Gene - OMIM - HGNC]
  • SNORD126:small nucleolar RNA, C/D box 126 [Gene - HGNC]
  • SNORD127:small nucleolar RNA, C/D box 127 [Gene - HGNC]
  • SNORD8:small nucleolar RNA, C/D box 8 [Gene - HGNC]
  • SNORD9:small nucleolar RNA, C/D box 9 [Gene - HGNC]
  • SNORA101B:small nucleolar RNA, H/ACA box 101B [Gene - HGNC]
  • SNORA79B:small nucleolar RNA, H/ACA box 79B [Gene - HGNC]
  • SNORA89:small nucleolar RNA, H/ACA box 89 [Gene - HGNC]
  • SLC22A17:solute carrier family 22 member 17 [Gene - OMIM - HGNC]
  • SLC25A21:solute carrier family 25 member 21 [Gene - OMIM - HGNC]
  • SLC39A2:solute carrier family 39 member 2 [Gene - OMIM - HGNC]
  • SLC7A7:solute carrier family 7 member 7 [Gene - OMIM - HGNC]
  • SLC7A8:solute carrier family 7 member 8 [Gene - OMIM - HGNC]
  • SSTR1:somatostatin receptor 1 [Gene - OMIM - HGNC]
  • SNX6:sorting nexin 6 [Gene - OMIM - HGNC]
  • SALL2:spalt like transcription factor 2 [Gene - OMIM - HGNC]
  • STRN3:striatin 3 [Gene - OMIM - HGNC]
  • SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
  • STXBP6:syntaxin binding protein 6 [Gene - OMIM - HGNC]
  • TRR-ACG1-3:tRNA-Arg (anticodon ACG) 1-3 [Gene - HGNC]
  • TRL-AAG2-3:tRNA-Leu (anticodon AAG) 2-3 [Gene - OMIM - HGNC]
  • TRL-TAG2-1:tRNA-Leu (anticodon TAG) 2-1 [Gene - HGNC]
  • TRP-AGG2-5:tRNA-Pro (anticodon AGG) 2-5 [Gene - OMIM - HGNC]
  • TRP-AGG2-6:tRNA-Pro (anticodon AGG) 2-6 [Gene - OMIM - HGNC]
  • TRP-TGG1-1:tRNA-Pro (anticodon TGG) 1-1 [Gene - HGNC]
  • TRP-TGG3-2:tRNA-Pro (anticodon TGG) 3-2 [Gene - HGNC]
  • TRT-TGT3-1:tRNA-Thr (anticodon TGT) 3-1 [Gene - OMIM - HGNC]
  • TRT-TGT4-1:tRNA-Thr (anticodon TGT) 4-1 [Gene - HGNC]
  • TRT-TGT5-1:tRNA-Thr (anticodon TGT) 5-1 [Gene - HGNC]
  • TRY-GTA4-1:tRNA-Tyr (anticodon GTA) 4-1 [Gene - HGNC]
  • TRY-GTA5-3:tRNA-Tyr (anticodon GTA) 5-3 [Gene - HGNC]
  • TRY-GTA5-4:tRNA-Tyr (anticodon GTA) 5-4 [Gene - HGNC]
  • TRY-GTA5-5:tRNA-Tyr (anticodon GTA) 5-5 [Gene - HGNC]
  • TRY-GTA7-1:tRNA-Tyr (anticodon GTA) 7-1 [Gene - HGNC]
  • TEP1:telomerase associated protein 1 [Gene - OMIM - HGNC]
  • TSSK4:testis specific serine kinase 4 [Gene - OMIM - HGNC]
  • TTC5:tetratricopeptide repeat domain 5 [Gene - HGNC]
  • TTC6:tetratricopeptide repeat domain 6 [Gene - HGNC]
  • THTPA:thiamine triphosphatase [Gene - OMIM - HGNC]
  • TRAPPC6B:trafficking protein particle complex 6B [Gene - OMIM - HGNC]
  • TGM1:transglutaminase 1 [Gene - OMIM - HGNC]
  • TM9SF1:transmembrane 9 superfamily member 1 [Gene - HGNC]
  • TMEM253:transmembrane protein 253 [Gene - HGNC]
  • TPPP2:tubulin polymerization promoting protein family member 2 [Gene - OMIM - HGNC]
  • LOC100288846:uncharacterized LOC100288846 [Gene]
  • LOC100506071:uncharacterized LOC100506071 [Gene]
  • LOC101926933:uncharacterized LOC101926933 [Gene]
  • LOC101927045:uncharacterized LOC101927045 [Gene]
  • LOC101927124:uncharacterized LOC101927124 [Gene]
  • LOC101927178:uncharacterized LOC101927178 [Gene]
  • LOC101927418:uncharacterized LOC101927418 [Gene]
  • LOC101929718:uncharacterized LOC101929718 [Gene]
  • LOC102724814:uncharacterized LOC102724814 [Gene]
  • LOC105370401:uncharacterized LOC105370401 [Gene]
  • LOC105370457:uncharacterized LOC105370457 [Gene]
  • LOC105370473:uncharacterized LOC105370473 [Gene]
  • LOC112268124:uncharacterized LOC112268124 [Gene]
  • LOC254028:uncharacterized LOC254028 [Gene]
  • LOC728755:uncharacterized LOC728755 [Gene]
  • ZFHX2:zinc finger homeobox 2 [Gene - OMIM - HGNC]
  • ZNF219:zinc finger protein 219 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q11.2-21.3
Genomic location:
Preferred name:
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3
HGVS:
  • NC_000014.9:g.(?_20043513)_(48642042_?)dup
  • NC_000014.8:g.(?_20511672)_(49111245_?)dup
Links:
dbVar: nssv3395384; dbVar: nsv996197
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
SCV000183627ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Mar 18, 2014)
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.

SCV000183627

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000183627

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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 1, SCV000183627.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Nov 28, 2019

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