GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)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:
RCV000052296.5

Allele description [Variation Report for GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3]

GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3

Genes:
  • AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
  • AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • ATP5MPL:ATP synthase membrane subunit 6.8PL [Gene - OMIM - HGNC]
  • LOC108348026:ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer [Gene]
  • BCL11B:BAF chromatin remodeling complex subunit BCL11B [Gene - OMIM - HGNC]
  • BAG5:BCL2 associated athanogene 5 [Gene - OMIM - HGNC]
  • BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • BTBD6:BTB domain containing 6 [Gene - HGNC]
  • BTBD7:BTB domain containing 7 [Gene - OMIM - HGNC]
  • CDC42BPB:CDC42 binding protein kinase beta [Gene - OMIM - HGNC]
  • DDX24:DEAD-box helicase 24 [Gene - OMIM - HGNC]
  • DICER1-AS1:DICER1 antisense RNA 1 [Gene - HGNC]
  • DIO3OS:DIO3 opposite strand upstream RNA [Gene - OMIM - HGNC]
  • EML1:EMAP like 1 [Gene - OMIM - HGNC]
  • EVL:Enah/Vasp-like [Gene - OMIM - HGNC]
  • FAM181A-AS1:FAM181A antisense RNA 1 [Gene - HGNC]
  • GPR132:G protein-coupled receptor 132 [Gene - OMIM - HGNC]
  • GON7:GON7 subunit of KEOPS complex [Gene - OMIM - HGNC]
  • GSC-DT:GSC divergent transcript [Gene - HGNC]
  • GSKIP:GSK3B interacting protein [Gene - OMIM - HGNC]
  • HHIPL1:HHIP like 1 [Gene - HGNC]
  • LOC111413041:HNF4 motif-containing MPRA enhancer 184 [Gene]
  • ITPK1-AS1:ITPK1 antisense RNA 1 [Gene - HGNC]
  • LBHD2:LBH domain containing 2 [Gene - HGNC]
  • MIR381HG:MIR381 host gene [Gene - HGNC]
  • MOK:MOK protein kinase [Gene - OMIM - HGNC]
  • NDUFB1:NADH:ubiquinone oxidoreductase subunit B1 [Gene - OMIM - HGNC]
  • OTUB2:OTU deubiquitinase, ubiquitin aldehyde binding 2 [Gene - OMIM - HGNC]
  • RCOR1:REST corepressor 1 [Gene - OMIM - HGNC]
  • RIN3:Ras and Rab interactor 3 [Gene - OMIM - HGNC]
  • SETD3:SET domain containing 3, actin histidine methyltransferase [Gene - OMIM - HGNC]
  • SIVA1:SIVA1 apoptosis inducing factor [Gene - OMIM - HGNC]
  • LOC112163681:Sharpr-MPRA regulatory region 10653 [Gene]
  • LOC112163682:Sharpr-MPRA regulatory region 10698 [Gene]
  • LOC112272571:Sharpr-MPRA regulatory region 11883 [Gene]
  • LOC112163683:Sharpr-MPRA regulatory region 3007 [Gene]
  • LOC112272570:Sharpr-MPRA regulatory region 4126 [Gene]
  • LOC112163679:Sharpr-MPRA regulatory region 4550 [Gene]
  • LOC112163680:Sharpr-MPRA regulatory region 4628 [Gene]
  • LOC112163685:Sharpr-MPRA regulatory region 5751 [Gene]
  • LOC112272573:Sharpr-MPRA regulatory region 7827 [Gene]
  • LOC112272572:Sharpr-MPRA regulatory region 9177 [Gene]
  • LOC112163684:Sharpr-MPRA regulatory region 9453 [Gene]
  • TCL1A:T cell leukemia/lymphoma 1A [Gene - OMIM - HGNC]
  • TCL1B:T cell leukemia/lymphoma 1B [Gene - OMIM - HGNC]
  • TCL6:T cell leukemia/lymphoma 6 [Gene - OMIM - HGNC]
  • TUNAR:TCL1 upstream neural differentiation-associated RNA [Gene - OMIM - HGNC]
  • TNFAIP2:TNF alpha induced protein 2 [Gene - OMIM - HGNC]
  • TRAF3:TNF receptor associated factor 3 [Gene - OMIM - HGNC]
  • LOC110121377:VISTA enhancer hs1486 [Gene]
  • LOC110121463:VISTA enhancer hs1931 [Gene]
  • LOC110120910:VISTA enhancer hs622 [Gene]
  • VRK1:VRK serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • WDR20:WD repeat domain 20 [Gene - OMIM - HGNC]
  • WDR25:WD repeat domain 25 [Gene - OMIM - HGNC]
  • XRCC3:X-ray repair cross complementing 3 [Gene - OMIM - HGNC]
  • YY1:YY1 transcription factor [Gene - OMIM - HGNC]
  • AK7:adenylate kinase 7 [Gene - OMIM - HGNC]
  • ADSS1:adenylosuccinate synthase 1 [Gene - OMIM - HGNC]
  • AMN:amnion associated transmembrane protein [Gene - OMIM - HGNC]
  • ASB2:ankyrin repeat and SOCS box containing 2 [Gene - OMIM - HGNC]
  • ANKRD9:ankyrin repeat domain 9 [Gene - HGNC]
  • ASPG:asparaginase [Gene - OMIM - HGNC]
  • LOC108663987:ataxin 3 repeat instability region [Gene]
  • ATXN3:ataxin 3 [Gene - OMIM - HGNC]
  • ATG2B:autophagy related 2B [Gene - OMIM - HGNC]
  • BDKRB1:bradykinin receptor B1 [Gene - OMIM - HGNC]
  • BDKRB2:bradykinin receptor B2 [Gene - OMIM - HGNC]
  • BEGAIN:brain enriched guanylate kinase associated [Gene - HGNC]
  • CLMN:calmin [Gene - OMIM - HGNC]
  • CATSPERB:cation channel sperm associated auxiliary subunit beta [Gene - OMIM - HGNC]
  • CDCA4:cell division cycle associated 4 [Gene - OMIM - HGNC]
  • CEP170B:centrosomal protein 170B [Gene - HGNC]
  • CHGA:chromogranin A [Gene - OMIM - HGNC]
  • C14orf132:chromosome 14 open reading frame 132 [Gene - HGNC]
  • C14orf177:chromosome 14 open reading frame 177 [Gene - HGNC]
  • C14orf180:chromosome 14 open reading frame 180 [Gene - HGNC]
  • CLBA1:clathrin binding box of aftiphilin containing 1 [Gene - HGNC]
  • CPSF2:cleavage and polyadenylation specific factor 2 [Gene - OMIM - HGNC]
  • CCDC197:coiled-coil domain containing 197 [Gene - HGNC]
  • CCDC85C:coiled-coil domain containing 85C [Gene - HGNC]
  • CKB:creatine kinase B [Gene - OMIM - HGNC]
  • CCNK:cyclin K [Gene - OMIM - HGNC]
  • CINP:cyclin dependent kinase 2 interacting protein [Gene - OMIM - HGNC]
  • CRIP1:cysteine rich protein 1 [Gene - OMIM - HGNC]
  • CRIP2:cysteine rich protein 2 [Gene - OMIM - HGNC]
  • CYP46A1:cytochrome P450 family 46 subfamily A member 1 [Gene - OMIM - HGNC]
  • COA8:cytochrome c oxidase assembly factor 8 [Gene - OMIM - HGNC]
  • COX8C:cytochrome c oxidase subunit 8C [Gene - OMIM - HGNC]
  • DEGS2:delta 4-desaturase, sphingolipid 2 [Gene - OMIM - HGNC]
  • DLK1:delta like non-canonical Notch ligand 1 [Gene - OMIM - HGNC]
  • DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
  • DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]
  • EIF5:eukaryotic translation initiation factor 5 [Gene - OMIM - HGNC]
  • EXOC3L4:exocyst complex component 3 like 4 [Gene - HGNC]
  • FAM181A:family with sequence similarity 181 member A [Gene - HGNC]
  • FAM30A:family with sequence similarity 30 member A [Gene - OMIM - HGNC]
  • FBLN5:fibulin 5 [Gene - OMIM - HGNC]
  • GLRX5:glutaredoxin 5 [Gene - OMIM - HGNC]
  • GOLGA5:golgin A5 [Gene - OMIM - HGNC]
  • GSC:goosecoid homeobox [Gene - OMIM - HGNC]
  • HSP90AA1:heat shock protein 90 alpha family class A member 1 [Gene - OMIM - HGNC]
  • IGHA1:immunoglobulin heavy constant alpha 1 [Gene - OMIM - HGNC]
  • IGHA2:immunoglobulin heavy constant alpha 2 (A2m marker) [Gene - OMIM - HGNC]
  • IGHD:immunoglobulin heavy constant delta [Gene - OMIM - HGNC]
  • IGHE:immunoglobulin heavy constant epsilon [Gene - OMIM - HGNC]
  • IGHG1:immunoglobulin heavy constant gamma 1 (G1m marker) [Gene - OMIM - HGNC]
  • IGHG2:immunoglobulin heavy constant gamma 2 (G2m marker) [Gene - OMIM - HGNC]
  • IGHG3:immunoglobulin heavy constant gamma 3 (G3m marker) [Gene - OMIM - HGNC]
  • IGHG4:immunoglobulin heavy constant gamma 4 (G4m marker) [Gene - OMIM - HGNC]
  • IGHM:immunoglobulin heavy constant mu [Gene - OMIM - HGNC]
  • IGHD1-14:immunoglobulin heavy diversity 1-14 (non-functional) [Gene - HGNC]
  • IGHD1-1:immunoglobulin heavy diversity 1-1 [Gene - HGNC]
  • IGHD1-20:immunoglobulin heavy diversity 1-20 [Gene - HGNC]
  • IGHD1-26:immunoglobulin heavy diversity 1-26 [Gene - HGNC]
  • IGHD1-7:immunoglobulin heavy diversity 1-7 [Gene - HGNC]
  • IGHD2-15:immunoglobulin heavy diversity 2-15 [Gene - HGNC]
  • IGHD2-21:immunoglobulin heavy diversity 2-21 [Gene - HGNC]
  • IGHD2-2:immunoglobulin heavy diversity 2-2 [Gene - HGNC]
  • IGHD2-8:immunoglobulin heavy diversity 2-8 [Gene - HGNC]
  • IGHD3-10:immunoglobulin heavy diversity 3-10 [Gene - HGNC]
  • IGHD3-16:immunoglobulin heavy diversity 3-16 [Gene - HGNC]
  • IGHD3-22:immunoglobulin heavy diversity 3-22 [Gene - HGNC]
  • IGHD3-3:immunoglobulin heavy diversity 3-3 [Gene - OMIM - HGNC]
  • IGHD3-9:immunoglobulin heavy diversity 3-9 [Gene - HGNC]
  • IGHD4-11:immunoglobulin heavy diversity 4-11 (non-functional) [Gene - HGNC]
  • IGHD4-17:immunoglobulin heavy diversity 4-17 [Gene - HGNC]
  • IGHD4-23:immunoglobulin heavy diversity 4-23 (non-functional) [Gene - HGNC]
  • IGHD4-4:immunoglobulin heavy diversity 4-4 [Gene - HGNC]
  • IGHD5-12:immunoglobulin heavy diversity 5-12 [Gene - HGNC]
  • IGHD5-18:immunoglobulin heavy diversity 5-18 [Gene - HGNC]
  • IGHD5-24:immunoglobulin heavy diversity 5-24 (non-functional) [Gene - HGNC]
  • IGHD5-5:immunoglobulin heavy diversity 5-5 [Gene - HGNC]
  • IGHD6-13:immunoglobulin heavy diversity 6-13 [Gene - HGNC]
  • IGHD6-19:immunoglobulin heavy diversity 6-19 [Gene - HGNC]
  • IGHD6-25:immunoglobulin heavy diversity 6-25 [Gene - HGNC]
  • IGHD6-6:immunoglobulin heavy diversity 6-6 [Gene - HGNC]
  • IGHD7-27:immunoglobulin heavy diversity 7-27 [Gene - HGNC]
  • IGHJ1:immunoglobulin heavy joining 1 [Gene - HGNC]
  • IGHJ2:immunoglobulin heavy joining 2 [Gene - HGNC]
  • IGHJ3:immunoglobulin heavy joining 3 [Gene - HGNC]
  • IGHJ4:immunoglobulin heavy joining 4 [Gene - HGNC]
  • IGHJ5:immunoglobulin heavy joining 5 [Gene - HGNC]
  • IGHJ6:immunoglobulin heavy joining 6 [Gene - HGNC]
  • IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - HGNC]
  • IGHV1-18:immunoglobulin heavy variable 1-18 [Gene - HGNC]
  • IGHV1-24:immunoglobulin heavy variable 1-24 [Gene - HGNC]
  • IGHV1-2:immunoglobulin heavy variable 1-2 [Gene - HGNC]
  • IGHV1-3:immunoglobulin heavy variable 1-3 [Gene - HGNC]
  • IGHV1-45:immunoglobulin heavy variable 1-45 [Gene - HGNC]
  • IGHV1-46:immunoglobulin heavy variable 1-46 [Gene - HGNC]
  • IGHV1-58:immunoglobulin heavy variable 1-58 [Gene - HGNC]
  • IGHV1-69-2:immunoglobulin heavy variable 1-69-2 [Gene - HGNC]
  • IGHV1-69:immunoglobulin heavy variable 1-69 [Gene - HGNC]
  • IGHV1-69D:immunoglobulin heavy variable 1-69D [Gene - HGNC]
  • IGHV2-26:immunoglobulin heavy variable 2-26 [Gene - HGNC]
  • IGHV2-5:immunoglobulin heavy variable 2-5 [Gene - HGNC]
  • IGHV2-70:immunoglobulin heavy variable 2-70 [Gene - HGNC]
  • IGHV2-70D:immunoglobulin heavy variable 2-70D [Gene - HGNC]
  • IGHV3-11:immunoglobulin heavy variable 3-11 (gene/pseudogene) [Gene - HGNC]
  • IGHV3-13:immunoglobulin heavy variable 3-13 [Gene - HGNC]
  • IGHV3-15:immunoglobulin heavy variable 3-15 [Gene - HGNC]
  • IGHV3-16:immunoglobulin heavy variable 3-16 (non-functional) [Gene - HGNC]
  • IGHV3-20:immunoglobulin heavy variable 3-20 [Gene - HGNC]
  • IGHV3-21:immunoglobulin heavy variable 3-21 [Gene - HGNC]
  • IGHV3-23:immunoglobulin heavy variable 3-23 [Gene - OMIM - HGNC]
  • IGHV3-30:immunoglobulin heavy variable 3-30 [Gene - HGNC]
  • IGHV3-33:immunoglobulin heavy variable 3-33 [Gene - HGNC]
  • IGHV3-35:immunoglobulin heavy variable 3-35 (non-functional) [Gene - HGNC]
  • IGHV3-38:immunoglobulin heavy variable 3-38 (non-functional) [Gene - HGNC]
  • IGHV3-43:immunoglobulin heavy variable 3-43 [Gene - HGNC]
  • IGHV3-48:immunoglobulin heavy variable 3-48 [Gene - HGNC]
  • IGHV3-49:immunoglobulin heavy variable 3-49 [Gene - HGNC]
  • IGHV3-53:immunoglobulin heavy variable 3-53 [Gene - HGNC]
  • IGHV3-64:immunoglobulin heavy variable 3-64 [Gene - HGNC]
  • IGHV3-64D:immunoglobulin heavy variable 3-64D [Gene - HGNC]
  • IGHV3-66:immunoglobulin heavy variable 3-66 [Gene - HGNC]
  • IGHV3-72:immunoglobulin heavy variable 3-72 [Gene - HGNC]
  • IGHV3-73:immunoglobulin heavy variable 3-73 [Gene - HGNC]
  • IGHV3-74:immunoglobulin heavy variable 3-74 [Gene - HGNC]
  • IGHV3-7:immunoglobulin heavy variable 3-7 [Gene - HGNC]
  • IGHV4-28:immunoglobulin heavy variable 4-28 [Gene - HGNC]
  • IGHV4-30-2:immunoglobulin heavy variable 4-30-2 [Gene - HGNC]
  • IGHV4-31:immunoglobulin heavy variable 4-31 [Gene - HGNC]
  • IGHV4-34:immunoglobulin heavy variable 4-34 [Gene - HGNC]
  • IGHV4-39:immunoglobulin heavy variable 4-39 [Gene - HGNC]
  • IGHV4-4:immunoglobulin heavy variable 4-4 [Gene - HGNC]
  • IGHV4-59:immunoglobulin heavy variable 4-59 [Gene - HGNC]
  • IGHV4-61:immunoglobulin heavy variable 4-61 [Gene - HGNC]
  • IGHV5-10-1:immunoglobulin heavy variable 5-10-1 [Gene - HGNC]
  • IGHV5-51:immunoglobulin heavy variable 5-51 [Gene - HGNC]
  • IGHV6-1:immunoglobulin heavy variable 6-1 [Gene - HGNC]
  • IGHV7-4-1:immunoglobulin heavy variable 7-4-1 [Gene - HGNC]
  • ITPK1:inositol-tetrakisphosphate 1-kinase [Gene - OMIM - HGNC]
  • IFI27L1:interferon alpha inducible protein 27 like 1 [Gene - OMIM - HGNC]
  • IFI27L2:interferon alpha inducible protein 27 like 2 [Gene - OMIM - HGNC]
  • IFI27:interferon alpha inducible protein 27 [Gene - OMIM - HGNC]
  • INF2:inverted formin, FH2 and WH2 domain containing [Gene - OMIM - HGNC]
  • DIO3:iodothyronine deiodinase 3 [Gene - OMIM - HGNC]
  • JAG2:jagged canonical Notch ligand 2 [Gene - OMIM - HGNC]
  • KIF26A:kinesin family member 26A [Gene - OMIM - HGNC]
  • KLC1:kinesin light chain 1 [Gene - OMIM - HGNC]
  • LGMN:legumain [Gene - OMIM - HGNC]
  • LINC01550:long intergenic non-protein coding RNA 1550 [Gene - HGNC]
  • LINC00221:long intergenic non-protein coding RNA 221 [Gene - HGNC]
  • LINC00226:long intergenic non-protein coding RNA 226 [Gene - HGNC]
  • LINC02280:long intergenic non-protein coding RNA 2280 [Gene - HGNC]
  • LINC02285:long intergenic non-protein coding RNA 2285 [Gene - HGNC]
  • LINC02287:long intergenic non-protein coding RNA 2287 [Gene - HGNC]
  • LINC02291:long intergenic non-protein coding RNA 2291 [Gene - HGNC]
  • LINC02292:long intergenic non-protein coding RNA 2292 [Gene - HGNC]
  • LINC02295:long intergenic non-protein coding RNA 2295 [Gene - HGNC]
  • LINC02298:long intergenic non-protein coding RNA 2298 [Gene - HGNC]
  • LINC02299:long intergenic non-protein coding RNA 2299 [Gene - HGNC]
  • LINC02304:long intergenic non-protein coding RNA 2304 [Gene - HGNC]
  • LINC02312:long intergenic non-protein coding RNA 2312 [Gene - HGNC]
  • LINC02314:long intergenic non-protein coding RNA 2314 [Gene - HGNC]
  • LINC02318:long intergenic non-protein coding RNA 2318 [Gene - HGNC]
  • LINC02320:long intergenic non-protein coding RNA 2320 [Gene - HGNC]
  • LINC02323:long intergenic non-protein coding RNA 2323 [Gene - HGNC]
  • LINC02325:long intergenic non-protein coding RNA 2325 [Gene - HGNC]
  • LINC00239:long intergenic non-protein coding RNA 239 [Gene - HGNC]
  • LINC02691:long intergenic non-protein coding RNA 2691 [Gene - HGNC]
  • LINC02833:long intergenic non-protein coding RNA 2833 [Gene - HGNC]
  • LINC00341:long intergenic non-protein coding RNA 341 [Gene - HGNC]
  • LINC00523:long intergenic non-protein coding RNA 523 [Gene - HGNC]
  • LINC00524:long intergenic non-protein coding RNA 524 [Gene - HGNC]
  • LINC00605:long intergenic non-protein coding RNA 605 [Gene - HGNC]
  • LINC00618:long intergenic non-protein coding RNA 618 [Gene - HGNC]
  • LINC00637:long intergenic non-protein coding RNA 637 [Gene - HGNC]
  • LINC00638:long intergenic non-protein coding RNA 638 [Gene - HGNC]
  • LINC00677:long intergenic non-protein coding RNA 677 [Gene - HGNC]
  • MEG3:maternally expressed 3 [Gene - OMIM - HGNC]
  • MEG8:maternally expressed 8, small nucleolar RNA host gene [Gene - OMIM - HGNC]
  • MEG9:maternally expressed 9 [Gene - HGNC]
  • MTA1:metastasis associated 1 [Gene - OMIM - HGNC]
  • MIR1185-1:microRNA 1185-1 [Gene - HGNC]
  • MIR1185-2:microRNA 1185-2 [Gene - HGNC]
  • MIR1193:microRNA 1193 [Gene - HGNC]
  • MIR1197:microRNA 1197 [Gene - HGNC]
  • MIR12121:microRNA 12121 [Gene - HGNC]
  • MIR1247:microRNA 1247 [Gene - HGNC]
  • MIR127:microRNA 127 [Gene - OMIM - HGNC]
  • MIR134:microRNA 134 [Gene - OMIM - HGNC]
  • MIR136:microRNA 136 [Gene - OMIM - HGNC]
  • MIR151B:microRNA 151b [Gene - HGNC]
  • MIR154:microRNA 154 [Gene - HGNC]
  • MIR203A:microRNA 203a [Gene - OMIM - HGNC]
  • MIR203B:microRNA 203b [Gene - HGNC]
  • MIR2392:microRNA 2392 [Gene - HGNC]
  • MIR299:microRNA 299 [Gene - HGNC]
  • MIR300:microRNA 300 [Gene - HGNC]
  • MIR3173:microRNA 3173 [Gene - HGNC]
  • MIR323A:microRNA 323a [Gene - HGNC]
  • MIR323B:microRNA 323b [Gene - HGNC]
  • MIR329-1:microRNA 329-1 [Gene - HGNC]
  • MIR329-2:microRNA 329-2 [Gene - HGNC]
  • MIR337:microRNA 337 [Gene - HGNC]
  • MIR342:microRNA 342 [Gene - HGNC]
  • MIR345:microRNA 345 [Gene - HGNC]
  • MIR369:microRNA 369 [Gene - OMIM - HGNC]
  • MIR370:microRNA 370 [Gene - OMIM - HGNC]
  • MIR376A1:microRNA 376a-1 [Gene - OMIM - HGNC]
  • MIR376A2:microRNA 376a-2 [Gene - OMIM - HGNC]
  • MIR376B:microRNA 376b [Gene - OMIM - HGNC]
  • MIR376C:microRNA 376c [Gene - OMIM - HGNC]
  • MIR377:microRNA 377 [Gene - HGNC]
  • MIR379:microRNA 379 [Gene - OMIM - HGNC]
  • MIR380:microRNA 380 [Gene - OMIM - HGNC]
  • MIR381:microRNA 381 [Gene - HGNC]
  • MIR382:microRNA 382 [Gene - HGNC]
  • MIR409:microRNA 409 [Gene - OMIM - HGNC]
  • MIR410:microRNA 410 [Gene - OMIM - HGNC]
  • MIR411:microRNA 411 [Gene - HGNC]
  • MIR412:microRNA 412 [Gene - HGNC]
  • MIR4309:microRNA 4309 [Gene - HGNC]
  • MIR431:microRNA 431 [Gene - OMIM - HGNC]
  • MIR432:microRNA 432 [Gene - HGNC]
  • MIR433:microRNA 433 [Gene - OMIM - HGNC]
  • MIR4506:microRNA 4506 [Gene - HGNC]
  • MIR4507:microRNA 4507 [Gene - HGNC]
  • MIR4537:microRNA 4537 [Gene - HGNC]
  • MIR4538:microRNA 4538 [Gene - HGNC]
  • MIR4539:microRNA 4539 [Gene - HGNC]
  • MIR4710:microRNA 4710 [Gene - HGNC]
  • MIR485:microRNA 485 [Gene - OMIM - HGNC]
  • MIR487A:microRNA 487a [Gene - HGNC]
  • MIR487B:microRNA 487b [Gene - OMIM - HGNC]
  • MIR493:microRNA 493 [Gene - HGNC]
  • MIR494:microRNA 494 [Gene - OMIM - HGNC]
  • MIR495:microRNA 495 [Gene - OMIM - HGNC]
  • MIR496:microRNA 496 [Gene - HGNC]
  • MIR539:microRNA 539 [Gene - HGNC]
  • MIR541:microRNA 541 [Gene - HGNC]
  • MIR543:microRNA 543 [Gene - HGNC]
  • MIR544A:microRNA 544a [Gene - HGNC]
  • MIR654:microRNA 654 [Gene - HGNC]
  • MIR655:microRNA 655 [Gene - HGNC]
  • MIR656:microRNA 656 [Gene - OMIM - HGNC]
  • MIR665:microRNA 665 [Gene - HGNC]
  • MIR668:microRNA 668 [Gene - HGNC]
  • MIR6764:microRNA 6764 [Gene - HGNC]
  • MIR6765:microRNA 6765 [Gene - HGNC]
  • MIR758:microRNA 758 [Gene - HGNC]
  • MIR770:microRNA 770 [Gene - HGNC]
  • MIR8071-1:microRNA 8071-1 [Gene - HGNC]
  • MIR8071-2:microRNA 8071-2 [Gene - HGNC]
  • MIR889:microRNA 889 [Gene - HGNC]
  • MARK3:microtubule affinity regulating kinase 3 [Gene - OMIM - HGNC]
  • MOAP1:modulator of apoptosis 1 [Gene - OMIM - HGNC]
  • NUDT14:nudix hydrolase 14 [Gene - OMIM - HGNC]
  • PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]
  • PLD4:phospholipase D family member 4 [Gene - OMIM - HGNC]
  • PAPOLA:poly(A) polymerase alpha [Gene - OMIM - HGNC]
  • PRIMA1:proline rich membrane anchor 1 [Gene - OMIM - HGNC]
  • PPP1R13B:protein phosphatase 1 regulatory subunit 13B [Gene - OMIM - HGNC]
  • PPP2R5C:protein phosphatase 2 regulatory subunit B'gamma [Gene - OMIM - HGNC]
  • PPP4R3A:protein phosphatase 4 regulatory subunit 3A [Gene - OMIM - HGNC]
  • PPP4R4:protein phosphatase 4 regulatory subunit 4 [Gene - OMIM - HGNC]
  • RD3L:retinal degeneration 3 like [Gene - HGNC]
  • RTL1:retrotransposon Gag like 1 [Gene - OMIM - HGNC]
  • SERPINA10:serpin family A member 10 [Gene - OMIM - HGNC]
  • SERPINA11:serpin family A member 11 [Gene - HGNC]
  • SERPINA12:serpin family A member 12 [Gene - OMIM - HGNC]
  • SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
  • SERPINA2:serpin family A member 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • SERPINA3:serpin family A member 3 [Gene - OMIM - HGNC]
  • SERPINA4:serpin family A member 4 [Gene - OMIM - HGNC]
  • SERPINA5:serpin family A member 5 [Gene - OMIM - HGNC]
  • SERPINA6:serpin family A member 6 [Gene - OMIM - HGNC]
  • SERPINA9:serpin family A member 9 [Gene - OMIM - HGNC]
  • LOC111721711:skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region [Gene]
  • SCARNA13:small Cajal body-specific RNA 13 [Gene - HGNC]
  • SNHG10:small nucleolar RNA host gene 10 [Gene - HGNC]
  • SNHG23:small nucleolar RNA host gene 23 [Gene - HGNC]
  • SNHG24:small nucleolar RNA host gene 24 [Gene - HGNC]
  • SNORD112:small nucleolar RNA, C/D box 112 [Gene - OMIM - HGNC]
  • SNORD113-1:small nucleolar RNA, C/D box 113-1 [Gene - OMIM - HGNC]
  • SNORD113-2:small nucleolar RNA, C/D box 113-2 [Gene - HGNC]
  • SNORD113-3:small nucleolar RNA, C/D box 113-3 [Gene - HGNC]
  • SNORD113-4:small nucleolar RNA, C/D box 113-4 [Gene - HGNC]
  • SNORD113-5:small nucleolar RNA, C/D box 113-5 [Gene - HGNC]
  • SNORD113-6:small nucleolar RNA, C/D box 113-6 [Gene - HGNC]
  • SNORD113-7:small nucleolar RNA, C/D box 113-7 [Gene - HGNC]
  • SNORD113-8:small nucleolar RNA, C/D box 113-8 [Gene - HGNC]
  • SNORD113-9:small nucleolar RNA, C/D box 113-9 [Gene - HGNC]
  • SNORD114-10:small nucleolar RNA, C/D box 114-10 [Gene - HGNC]
  • SNORD114-11:small nucleolar RNA, C/D box 114-11 [Gene - HGNC]
  • SNORD114-12:small nucleolar RNA, C/D box 114-12 [Gene - HGNC]
  • SNORD114-13:small nucleolar RNA, C/D box 114-13 [Gene - HGNC]
  • SNORD114-14:small nucleolar RNA, C/D box 114-14 [Gene - HGNC]
  • SNORD114-15:small nucleolar RNA, C/D box 114-15 [Gene - HGNC]
  • SNORD114-16:small nucleolar RNA, C/D box 114-16 [Gene - HGNC]
  • SNORD114-17:small nucleolar RNA, C/D box 114-17 [Gene - HGNC]
  • SNORD114-18:small nucleolar RNA, C/D box 114-18 [Gene - HGNC]
  • SNORD114-19:small nucleolar RNA, C/D box 114-19 [Gene - HGNC]
  • SNORD114-1:small nucleolar RNA, C/D box 114-1 [Gene - OMIM - HGNC]
  • SNORD114-20:small nucleolar RNA, C/D box 114-20 [Gene - HGNC]
  • SNORD114-21:small nucleolar RNA, C/D box 114-21 [Gene - HGNC]
  • SNORD114-22:small nucleolar RNA, C/D box 114-22 [Gene - HGNC]
  • SNORD114-23:small nucleolar RNA, C/D box 114-23 [Gene - HGNC]
  • SNORD114-24:small nucleolar RNA, C/D box 114-24 [Gene - HGNC]
  • SNORD114-25:small nucleolar RNA, C/D box 114-25 [Gene - HGNC]
  • SNORD114-26:small nucleolar RNA, C/D box 114-26 [Gene - HGNC]
  • SNORD114-27:small nucleolar RNA, C/D box 114-27 [Gene - HGNC]
  • SNORD114-28:small nucleolar RNA, C/D box 114-28 [Gene - HGNC]
  • SNORD114-29:small nucleolar RNA, C/D box 114-29 [Gene - HGNC]
  • SNORD114-2:small nucleolar RNA, C/D box 114-2 [Gene - HGNC]
  • SNORD114-30:small nucleolar RNA, C/D box 114-30 [Gene - HGNC]
  • SNORD114-31:small nucleolar RNA, C/D box 114-31 [Gene - HGNC]
  • SNORD114-3:small nucleolar RNA, C/D box 114-3 [Gene - HGNC]
  • SNORD114-4:small nucleolar RNA, C/D box 114-4 [Gene - HGNC]
  • SNORD114-5:small nucleolar RNA, C/D box 114-5 [Gene - HGNC]
  • SNORD114-6:small nucleolar RNA, C/D box 114-6 [Gene - HGNC]
  • SNORD114-7:small nucleolar RNA, C/D box 114-7 [Gene - HGNC]
  • SNORD114-8:small nucleolar RNA, C/D box 114-8 [Gene - HGNC]
  • SNORD114-9:small nucleolar RNA, C/D box 114-9 [Gene - HGNC]
  • SNORA28:small nucleolar RNA, H/ACA box 28 [Gene - HGNC]
  • SLC24A4:solute carrier family 24 member 4 [Gene - OMIM - HGNC]
  • SLC25A29:solute carrier family 25 member 29 [Gene - OMIM - HGNC]
  • SLC25A47:solute carrier family 25 member 47 [Gene - OMIM - HGNC]
  • SYNE3:spectrin repeat containing nuclear envelope family member 3 [Gene - OMIM - HGNC]
  • TRMT61A:tRNA methyltransferase 61A [Gene - HGNC]
  • TRI-AAT5-4:tRNA-Ile (anticodon AAT) 5-4 [Gene - HGNC]
  • TC2N:tandem C2 domains, nuclear [Gene - HGNC]
  • TECPR2:tectonin beta-propeller repeat containing 2 [Gene - OMIM - HGNC]
  • TEX22:testis expressed 22 [Gene - HGNC]
  • TRIP11:thyroid hormone receptor interactor 11 [Gene - OMIM - HGNC]
  • TMEM121:transmembrane protein 121 [Gene - HGNC]
  • TMEM179:transmembrane protein 179 [Gene - HGNC]
  • TMEM251:transmembrane protein 251 [Gene - HGNC]
  • WARS:tryptophanyl-tRNA synthetase [Gene - OMIM - HGNC]
  • TEDC1:tubulin epsilon and delta complex 1 [Gene - HGNC]
  • TDRD9:tudor domain containing 9 [Gene - OMIM - HGNC]
  • UBR7:ubiquitin protein ligase E3 component n-recognin 7 (putative) [Gene - OMIM - HGNC]
  • UNC79:unc-79 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
  • LOC100507437:uncharacterized LOC100507437 [Gene]
  • LOC105370687:uncharacterized LOC105370687 [Gene]
  • LOC105370697:uncharacterized LOC105370697 [Gene]
  • LOC105370708:uncharacterized LOC105370708 [Gene]
  • LOC105378183:uncharacterized LOC105378183 [Gene]
  • LOC107984703:uncharacterized LOC107984703 [Gene]
  • C14orf99:uncharacterized LOC317730 [Gene]
  • LOC730202:uncharacterized LOC730202 [Gene]
  • ZFYVE21:zinc finger FYVE-type containing 21 [Gene - OMIM - HGNC]
  • ZBTB42:zinc finger and BTB domain containing 42 [Gene - OMIM - HGNC]
  • ZNF839:zinc finger protein 839 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q32.12-32.33
Genomic location:
Preferred name:
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3
HGVS:
  • NC_000014.9:g.(?_91455861)_(106832642_?)dup
  • NC_000014.7:g.(?_90991958)_(106311914_?)dup
  • NC_000014.8:g.(?_91922205)_(107240869_?)dup
Links:
dbVar: nssv578675; dbVar: nsv531007
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
SCV000079647GeneDxcriteria 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 GeneDx, SCV000079647.5

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

Last Updated: Jul 13, 2019

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