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GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 13, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000845733.2

Allele description [Variation Report for GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3]

GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3

Genes:
  • AKT2:AKT serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • ATP4A:ATPase H+/K+ transporting subunit alpha [Gene - OMIM - HGNC]
  • ATP1A3:ATPase Na+/K+ transporting subunit alpha 3 [Gene - OMIM - HGNC]
  • AXL:AXL receptor tyrosine kinase [Gene - OMIM - HGNC]
  • B9D2:B9 domain containing 2 [Gene - OMIM - HGNC]
  • BBC3:BCL2 binding component 3 [Gene - OMIM - HGNC]
  • BCL3:BCL3 transcription coactivator [Gene - OMIM - HGNC]
  • BICRA:BRD4 interacting chromatin remodeling complex associated protein [Gene - OMIM - HGNC]
  • CXCL17:C-X-C motif chemokine ligand 17 [Gene - OMIM - HGNC]
  • CLIP3:CAP-Gly domain containing linker protein 3 [Gene - OMIM - HGNC]
  • CEBPA:CCAAT enhancer binding protein alpha [Gene - OMIM - HGNC]
  • CEBPG:CCAAT enhancer binding protein gamma [Gene - OMIM - HGNC]
  • CD177:CD177 molecule [Gene - OMIM - HGNC]
  • CD22:CD22 molecule [Gene - OMIM - HGNC]
  • CD79A:CD79a molecule [Gene - OMIM - HGNC]
  • CEACAM16:CEA cell adhesion molecule 16, tectorial membrane component [Gene - OMIM - HGNC]
  • CEACAM19:CEA cell adhesion molecule 19 [Gene - OMIM - HGNC]
  • CEACAM1:CEA cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • CEACAM20:CEA cell adhesion molecule 20 [Gene - HGNC]
  • CEACAM21:CEA cell adhesion molecule 21 [Gene - OMIM - HGNC]
  • CEACAM3:CEA cell adhesion molecule 3 [Gene - OMIM - HGNC]
  • CEACAM4:CEA cell adhesion molecule 4 [Gene - OMIM - HGNC]
  • CEACAM5:CEA cell adhesion molecule 5 [Gene - OMIM - HGNC]
  • CEACAM6:CEA cell adhesion molecule 6 [Gene - OMIM - HGNC]
  • CEACAM7:CEA cell adhesion molecule 7 [Gene - OMIM - HGNC]
  • CEACAM8:CEA cell adhesion molecule 8 [Gene - OMIM - HGNC]
  • CLASRP:CLK4 associating serine/arginine rich protein [Gene - OMIM - HGNC]
  • CLPTM1:CLPTM1 regulator of GABA type A receptor forward trafficking [Gene - OMIM - HGNC]
  • CBLC:Cbl proto-oncogene C [Gene - OMIM - HGNC]
  • CLC:Charcot-Leyden crystal galectin [Gene - OMIM - HGNC]
  • DBP:D-box binding PAR bZIP transcription factor [Gene - OMIM - HGNC]
  • DHX34:DExH-box helicase 34 [Gene - OMIM - HGNC]
  • DMWD:DM1 locus, WD repeat containing [Gene - OMIM - HGNC]
  • DMPK:DM1 protein kinase [Gene - OMIM - HGNC]
  • DMRTC2:DMRT like family C2 [Gene - OMIM - HGNC]
  • LIG1:DNA ligase 1 [Gene - OMIM - HGNC]
  • EHD2:EH domain containing 2 [Gene - OMIM - HGNC]
  • EML2:EMAP like 2 [Gene - OMIM - HGNC]
  • EID2:EP300 interacting inhibitor of differentiation 2 [Gene - OMIM - HGNC]
  • EID2B:EP300 interacting inhibitor of differentiation 2B [Gene - OMIM - HGNC]
  • ERCC1:ERCC excision repair 1, endonuclease non-catalytic subunit [Gene - OMIM - HGNC]
  • ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
  • ETHE1:ETHE1 persulfide dioxygenase [Gene - OMIM - HGNC]
  • ETV2:ETS variant transcription factor 2 [Gene - OMIM - HGNC]
  • ERF:ETS2 repressor factor [Gene - OMIM - HGNC]
  • FBXO17:F-box protein 17 [Gene - OMIM - HGNC]
  • FBXO27:F-box protein 27 [Gene - OMIM - HGNC]
  • FBXO46:F-box protein 46 [Gene - OMIM - HGNC]
  • FAAP24:FA core complex associated protein 24 [Gene - OMIM - HGNC]
  • FXYD1:FXYD domain containing ion transport regulator 1 [Gene - OMIM - HGNC]
  • FXYD3:FXYD domain containing ion transport regulator 3 [Gene - OMIM - HGNC]
  • FXYD5:FXYD domain containing ion transport regulator 5 [Gene - OMIM - HGNC]
  • FXYD7:FXYD domain containing ion transport regulator 7 [Gene - OMIM - HGNC]
  • FCGBP:Fc gamma binding protein [Gene - OMIM - HGNC]
  • FOSB:FosB proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • GNG8:G protein subunit gamma 8 [Gene - HGNC]
  • GPR42:G protein-coupled receptor 42 [Gene - OMIM - HGNC]
  • GPR4:G protein-coupled receptor 4 [Gene - OMIM - HGNC]
  • GPATCH1:G-patch domain containing 1 [Gene - HGNC]
  • GRAMD1A:GRAM domain containing 1A [Gene - OMIM - HGNC]
  • HAUS5:HAUS augmin like complex subunit 5 [Gene - OMIM - HGNC]
  • IGFL1:IGF like family member 1 [Gene - OMIM - HGNC]
  • IGFL2:IGF like family member 2 [Gene - OMIM - HGNC]
  • IGFL3:IGF like family member 3 [Gene - OMIM - HGNC]
  • IGFL4:IGF like family member 4 [Gene - OMIM - HGNC]
  • IGFLR1:IGF like family receptor 1 [Gene - OMIM - HGNC]
  • INAFM1:InaF motif containing 1 [Gene - HGNC]
  • KDELR1:KDEL endoplasmic reticulum protein retention receptor 1 [Gene - OMIM - HGNC]
  • LRP3:LDL receptor related protein 3 [Gene - OMIM - HGNC]
  • LSM14A:LSM14A mRNA processing body assembly factor [Gene - OMIM - HGNC]
  • LYPD3:LY6/PLAUR domain containing 3 [Gene - OMIM - HGNC]
  • LYPD4:LY6/PLAUR domain containing 4 [Gene - HGNC]
  • LYPD5:LY6/PLAUR domain containing 5 [Gene - OMIM - HGNC]
  • MIA:MIA SH3 domain containing [Gene - OMIM - HGNC]
  • MEIS3:Meis homeobox 3 [Gene - OMIM - HGNC]
  • MYPOP:Myb related transcription factor, partner of profilin [Gene - OMIM - HGNC]
  • NCCRP1:NCCRP1, F-box associated domain containing [Gene - OMIM - HGNC]
  • NFKBIB:NFKB inhibitor beta [Gene - OMIM - HGNC]
  • NFKBID:NFKB inhibitor delta [Gene - OMIM - HGNC]
  • NOP53:NOP53 ribosome biogenesis factor [Gene - OMIM - HGNC]
  • NOVA2:NOVA alternative splicing regulator 2 [Gene - OMIM - HGNC]
  • NPHS1:NPHS1 adhesion molecule, nephrin [Gene - OMIM - HGNC]
  • NAPA:NSF attachment protein alpha [Gene - OMIM - HGNC]
  • NKPD1:NTPase KAP family P-loop domain containing 1 [Gene - HGNC]
  • NUMBL:NUMB like endocytic adaptor protein [Gene - OMIM - HGNC]
  • PAF1:PAF1 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
  • PNMA8A:PNMA family member 8A [Gene - HGNC]
  • PNMA8B:PNMA family member 8B [Gene - OMIM - HGNC]
  • POP4:POP4 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
  • POU2F2:POU class 2 homeobox 2 [Gene - OMIM - HGNC]
  • PPP5D1:PPP5 tetratricopeptide repeat domain containing 1 [Gene - HGNC]
  • PVR:PVR cell adhesion molecule [Gene - OMIM - HGNC]
  • RAB4B:RAB4B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RASGRP4:RAS guanyl releasing protein 4 [Gene - OMIM - HGNC]
  • RELB:RELB proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
  • RBM42:RNA binding motif protein 42 [Gene - OMIM - HGNC]
  • POLR1G:RNA polymerase I subunit G [Gene - OMIM - HGNC]
  • POLR2I:RNA polymerase II subunit I [Gene - OMIM - HGNC]
  • RABAC1:Rab acceptor 1 [Gene - OMIM - HGNC]
  • RINL:Ras and Rab interactor like [Gene - HGNC]
  • ARHGAP33:Rho GTPase activating protein 33 [Gene - OMIM - HGNC]
  • ARHGAP35:Rho GTPase activating protein 35 [Gene - OMIM - HGNC]
  • ARHGEF1:Rho guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • SERTAD1:SERTA domain containing 1 [Gene - OMIM - HGNC]
  • SERTAD3:SERTA domain containing 3 [Gene - OMIM - HGNC]
  • SHKBP1:SH3KBP1 binding protein 1 [Gene - OMIM - HGNC]
  • SIX5:SIX homeobox 5 [Gene - OMIM - HGNC]
  • SMG9:SMG9 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • SUPT5H:SPT5 homolog, DSIF elongation factor subunit [Gene - OMIM - HGNC]
  • SAE1:SUMO1 activating enzyme subunit 1 [Gene - OMIM - HGNC]
  • THAP8:THAP domain containing 8 [Gene - OMIM - HGNC]
  • U2AF1L4:U2 small nuclear RNA auxiliary factor 1 like 4 [Gene - OMIM - HGNC]
  • B3GNT8:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 [Gene - OMIM - HGNC]
  • URI1:URI1 prefoldin like chaperone [Gene - OMIM - HGNC]
  • VSTM2B:V-set and transmembrane domain containing 2B [Gene - HGNC]
  • WDR62:WD repeat domain 62 [Gene - OMIM - HGNC]
  • WDR87:WD repeat domain 87 [Gene - OMIM - HGNC]
  • WDR88:WD repeat domain 88 [Gene - HGNC]
  • WTIP:WT1 interacting protein [Gene - OMIM - HGNC]
  • XRCC1:X-ray repair cross complementing 1 [Gene - OMIM - HGNC]
  • YIF1B:Yip1 interacting factor homolog B, membrane trafficking protein [Gene - OMIM - HGNC]
  • ZFP14:ZFP14 zinc finger protein [Gene - OMIM - HGNC]
  • ZFP30:ZFP30 zinc finger protein [Gene - OMIM - HGNC]
  • ZFP36:ZFP36 ring finger protein [Gene - OMIM - HGNC]
  • ZFP82:ZFP82 zinc finger protein [Gene - HGNC]
  • ACP7:acid phosphatase 7, tartrate resistant (putative) [Gene - OMIM - HGNC]
  • ACTMAP:actin maturation protease [Gene - OMIM - HGNC]
  • ACTN4:actinin alpha 4 [Gene - OMIM - HGNC]
  • AP2S1:adaptor related protein complex 2 subunit sigma 1 [Gene - OMIM - HGNC]
  • ALKBH6:alkB homolog 6 [Gene - OMIM - HGNC]
  • APLP1:amyloid beta precursor like protein 1 [Gene - OMIM - HGNC]
  • ANKRD27:ankyrin repeat domain 27 [Gene - OMIM - HGNC]
  • APOC1:apolipoprotein C1 [Gene - OMIM - HGNC]
  • APOC2:apolipoprotein C2 [Gene - OMIM - HGNC]
  • APOC4:apolipoprotein C4 [Gene - OMIM - HGNC]
  • APOE:apolipoprotein E [Gene - OMIM - HGNC]
  • BCAM:basal cell adhesion molecule (Lutheran blood group) [Gene - OMIM - HGNC]
  • BLVRB:biliverdin reductase B [Gene - OMIM - HGNC]
  • BSPH1:binder of sperm protein homolog 1 [Gene - OMIM - HGNC]
  • BLOC1S3:biogenesis of lysosomal organelles complex 1 subunit 3 [Gene - OMIM - HGNC]
  • BCKDHA:branched chain keto acid dehydrogenase E1 subunit alpha [Gene - OMIM - HGNC]
  • CABP5:calcium binding protein 5 [Gene - OMIM - HGNC]
  • CALM3:calmodulin 3 [Gene - OMIM - HGNC]
  • CAPN12:calpain 12 [Gene - OMIM - HGNC]
  • CAPNS1:calpain small subunit 1 [Gene - OMIM - HGNC]
  • CIC:capicua transcriptional repressor [Gene - OMIM - HGNC]
  • CHST8:carbohydrate sulfotransferase 8 [Gene - OMIM - HGNC]
  • CA11:carbonic anhydrase 11 [Gene - OMIM - HGNC]
  • CARD8:caspase recruitment domain family member 8 [Gene - OMIM - HGNC]
  • CATSPERG:cation channel sperm associated auxiliary subunit gamma [Gene - OMIM - HGNC]
  • CADM4:cell adhesion molecule 4 [Gene - OMIM - HGNC]
  • CEP89:centrosomal protein 89 [Gene - OMIM - HGNC]
  • C19orf12:chromosome 19 open reading frame 12 [Gene - OMIM - HGNC]
  • C19orf33:chromosome 19 open reading frame 33 [Gene - OMIM - HGNC]
  • C19orf47:chromosome 19 open reading frame 47 [Gene - HGNC]
  • COQ8B:coenzyme Q8B [Gene - OMIM - HGNC]
  • CCDC61:coiled-coil domain containing 61 [Gene - HGNC]
  • CCDC8:coiled-coil domain containing 8 [Gene - OMIM - HGNC]
  • CCDC97:coiled-coil domain containing 97 [Gene - HGNC]
  • CCDC9:coiled-coil domain containing 9 [Gene - HGNC]
  • C5AR1:complement C5a receptor 1 [Gene - OMIM - HGNC]
  • C5AR2:complement C5a receptor 2 [Gene - OMIM - HGNC]
  • CRX:cone-rod homeobox [Gene - OMIM - HGNC]
  • CNFN:cornifelin [Gene - OMIM - HGNC]
  • CKM:creatine kinase, M-type [Gene - OMIM - HGNC]
  • CCNE1:cyclin E1 [Gene - OMIM - HGNC]
  • CCNP:cyclin P [Gene - HGNC]
  • CYP2A13:cytochrome P450 family 2 subfamily A member 13 [Gene - OMIM - HGNC]
  • CYP2A6:cytochrome P450 family 2 subfamily A member 6 [Gene - OMIM - HGNC]
  • CYP2A7:cytochrome P450 family 2 subfamily A member 7 [Gene - OMIM - HGNC]
  • CYP2B6:cytochrome P450 family 2 subfamily B member 6 [Gene - OMIM - HGNC]
  • CYP2F1:cytochrome P450 family 2 subfamily F member 1 [Gene - OMIM - HGNC]
  • CYP2S1:cytochrome P450 family 2 subfamily S member 1 [Gene - OMIM - HGNC]
  • COX6B1:cytochrome c oxidase subunit 6B1 [Gene - OMIM - HGNC]
  • COX7A1:cytochrome c oxidase subunit 7A1 [Gene - OMIM - HGNC]
  • CYTH2:cytohesin 2 [Gene - OMIM - HGNC]
  • DEDD2:death effector domain containing 2 [Gene - OMIM - HGNC]
  • DLL3:delta like canonical Notch ligand 3 [Gene - OMIM - HGNC]
  • DMKN:dermokine [Gene - OMIM - HGNC]
  • DACT3:dishevelled binding antagonist of beta catenin 3 [Gene - OMIM - HGNC]
  • DMAC2:distal membrane arm assembly component 2 [Gene - OMIM - HGNC]
  • DPF1:double PHD fingers 1 [Gene - OMIM - HGNC]
  • DPY19L3:dpy-19 like C-mannosyltransferase 3 [Gene - OMIM - HGNC]
  • DYRK1B:dual specificity tyrosine phosphorylation regulated kinase 1B [Gene - OMIM - HGNC]
  • EGLN2:egl-9 family hypoxia inducible factor 2 [Gene - OMIM - HGNC]
  • ECH1:enoyl-CoA hydratase 1 [Gene - OMIM - HGNC]
  • ELSPBP1:epididymal sperm binding protein 1 [Gene - OMIM - HGNC]
  • EMP3:epithelial membrane protein 3 [Gene - OMIM - HGNC]
  • EIF3K:eukaryotic translation initiation factor 3 subunit K [Gene - OMIM - HGNC]
  • EXOC3L2:exocyst complex component 3 like 2 [Gene - OMIM - HGNC]
  • EXOSC5:exosome component 5 [Gene - OMIM - HGNC]
  • FAM187B:family with sequence similarity 187 member B [Gene - HGNC]
  • FAM83E:family with sequence similarity 83 member E [Gene - HGNC]
  • FAM98C:family with sequence similarity 98 member C [Gene - HGNC]
  • FBL:fibrillarin [Gene - OMIM - HGNC]
  • FOXA3:forkhead box A3 [Gene - OMIM - HGNC]
  • FFAR1:free fatty acid receptor 1 [Gene - OMIM - HGNC]
  • FFAR2:free fatty acid receptor 2 [Gene - OMIM - HGNC]
  • FFAR3:free fatty acid receptor 3 [Gene - OMIM - HGNC]
  • FUT2:fucosyltransferase 2 [Gene - OMIM - HGNC]
  • FKRP:fukutin related protein [Gene - OMIM - HGNC]
  • LGALS13:galectin 13 [Gene - OMIM - HGNC]
  • LGALS14:galectin 14 [Gene - OMIM - HGNC]
  • LGALS16:galectin 16 [Gene - HGNC]
  • LGALS4:galectin 4 [Gene - OMIM - HGNC]
  • LGALS7:galectin 7 [Gene - OMIM - HGNC]
  • LGALS7B:galectin 7B [Gene - OMIM - HGNC]
  • GGN:gametogenetin [Gene - OMIM - HGNC]
  • GIPR:gastric inhibitory polypeptide receptor [Gene - OMIM - HGNC]
  • GEMIN7:gem nuclear organelle associated protein 7 [Gene - OMIM - HGNC]
  • GMFG:glia maturation factor gamma [Gene - OMIM - HGNC]
  • GPI:glucose-6-phosphate isomerase [Gene - OMIM - HGNC]
  • GRIN2D:glutamate ionotropic receptor NMDA type subunit 2D [Gene - OMIM - HGNC]
  • GRIK5:glutamate ionotropic receptor kainate type subunit 5 [Gene - OMIM - HGNC]
  • ERICH4:glutamate rich 4 [Gene - HGNC]
  • GRWD1:glutamate rich WD repeat containing 1 [Gene - OMIM - HGNC]
  • QPCTL:glutaminyl-peptide cyclotransferase like [Gene - HGNC]
  • GAPDHS:glyceraldehyde-3-phosphate dehydrogenase, spermatogenic [Gene - OMIM - HGNC]
  • GSK3A:glycogen synthase kinase 3 alpha [Gene - OMIM - HGNC]
  • GARRE1:granule associated Rac and RHOG effector 1 [Gene - OMIM - HGNC]
  • HSPB6:heat shock protein family B (small) member 6 [Gene - OMIM - HGNC]
  • HCST:hematopoietic cell signal transducer [Gene - OMIM - HGNC]
  • HAMP:hepcidin antimicrobial peptide [Gene - OMIM - HGNC]
  • HPN:hepsin [Gene - OMIM - HGNC]
  • HNRNPL:heterogeneous nuclear ribonucleoprotein L [Gene - OMIM - HGNC]
  • HNRNPUL1:heterogeneous nuclear ribonucleoprotein U like 1 [Gene - OMIM - HGNC]
  • HIPK4:homeodomain interacting protein kinase 4 [Gene - OMIM - HGNC]
  • HIF3A:hypoxia inducible factor 3 subunit alpha [Gene - OMIM - HGNC]
  • IRGQ:immunity related GTPase Q [Gene - HGNC]
  • IRGC:immunity related GTPase cinema [Gene - HGNC]
  • IGSF23:immunoglobulin superfamily member 23 [Gene - HGNC]
  • ITPKC:inositol-trisphosphate 3-kinase C [Gene - OMIM - HGNC]
  • IFNL1:interferon lambda 1 [Gene - OMIM - HGNC]
  • IFNL2:interferon lambda 2 [Gene - OMIM - HGNC]
  • IFNL3:interferon lambda 3 [Gene - OMIM - HGNC]
  • IRF2BP1:interferon regulatory factor 2 binding protein 1 [Gene - OMIM - HGNC]
  • KPTN:kaptin, actin binding protein [Gene - OMIM - HGNC]
  • KRTDAP:keratinocyte differentiation associated protein [Gene - OMIM - HGNC]
  • KLC3:kinesin light chain 3 [Gene - OMIM - HGNC]
  • KIRREL2:kirre like nephrin family adhesion molecule 2 [Gene - OMIM - HGNC]
  • LTBP4:latent transforming growth factor beta binding protein 4 [Gene - OMIM - HGNC]
  • LMTK3:lemur tyrosine kinase 3 [Gene - OMIM - HGNC]
  • LGI4:leucine rich repeat LGI family member 4 [Gene - OMIM - HGNC]
  • LRFN1:leucine rich repeat and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
  • LRFN3:leucine rich repeat and fibronectin type III domain containing 3 [Gene - OMIM - HGNC]
  • LEUTX:leucine twenty homeobox [Gene - OMIM - HGNC]
  • LIN37:lin-37 DREAM MuvB core complex component [Gene - HGNC]
  • LIPE:lipase E, hormone sensitive type [Gene - OMIM - HGNC]
  • LSR:lipolysis stimulated lipoprotein receptor [Gene - OMIM - HGNC]
  • KMT2B:lysine methyltransferase 2B [Gene - OMIM - HGNC]
  • MED29:mediator complex subunit 29 [Gene - OMIM - HGNC]
  • MARK4:microtubule affinity regulating kinase 4 [Gene - OMIM - HGNC]
  • MRPS12:mitochondrial ribosomal protein S12 [Gene - OMIM - HGNC]
  • MAP3K10:mitogen-activated protein kinase kinase kinase 10 [Gene - OMIM - HGNC]
  • MAP4K1:mitogen-activated protein kinase kinase kinase kinase 1 [Gene - OMIM - HGNC]
  • MEGF8:multiple EGF like domains 8 [Gene - OMIM - HGNC]
  • MAG:myelin associated glycoprotein [Gene - OMIM - HGNC]
  • NANOS2:nanos C2HC-type zinc finger 2 [Gene - OMIM - HGNC]
  • NECTIN2:nectin cell adhesion molecule 2 [Gene - OMIM - HGNC]
  • NTN5:netrin 5 [Gene - HGNC]
  • NPAS1:neuronal PAS domain protein 1 [Gene - OMIM - HGNC]
  • NUDT19:nudix hydrolase 19 [Gene - HGNC]
  • ODAD1:outer dynein arm docking complex subunit 1 [Gene - OMIM - HGNC]
  • OPA3:outer mitochondrial membrane lipid metabolism regulator OPA3 [Gene - OMIM - HGNC]
  • OVOL3:ovo like zinc finger 3 [Gene - OMIM - HGNC]
  • PAK4:p21 (RAC1) activated kinase 4 [Gene - OMIM - HGNC]
  • PRG1:p53-responsive gene 1 [Gene - OMIM]
  • PEPD:peptidase D [Gene - OMIM - HGNC]
  • PGLYRP1:peptidoglycan recognition protein 1 [Gene - OMIM - HGNC]
  • PRX:periaxin [Gene - OMIM - HGNC]
  • PLA2G4C:phospholipase A2 group IVC [Gene - OMIM - HGNC]
  • PINLYP:phospholipase A2 inhibitor and LY6/PLAUR domain containing [Gene - HGNC]
  • PLD3:phospholipase D family member 3 [Gene - OMIM - HGNC]
  • PLAUR:plasminogen activator, urokinase receptor [Gene - OMIM - HGNC]
  • PAFAH1B3:platelet activating factor acetylhydrolase 1b catalytic subunit 3 [Gene - OMIM - HGNC]
  • PLEKHF1:pleckstrin homology and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • PLEKHG2:pleckstrin homology and RhoGEF domain containing G2 [Gene - OMIM - HGNC]
  • PHLDB3:pleckstrin homology like domain family B member 3 [Gene - HGNC]
  • KCNN4:potassium calcium-activated channel subfamily N member 4 [Gene - OMIM - HGNC]
  • KCTD15:potassium channel tetramerization domain containing 15 [Gene - OMIM - HGNC]
  • KCNJ14:potassium inwardly rectifying channel subfamily J member 14 [Gene - OMIM - HGNC]
  • KCNK6:potassium two pore domain channel subfamily K member 6 [Gene - OMIM - HGNC]
  • PSG11:pregnancy specific beta-1-glycoprotein 11 [Gene - OMIM - HGNC]
  • PSG1:pregnancy specific beta-1-glycoprotein 1 [Gene - OMIM - HGNC]
  • PSG2:pregnancy specific beta-1-glycoprotein 2 [Gene - OMIM - HGNC]
  • PSG3:pregnancy specific beta-1-glycoprotein 3 [Gene - OMIM - HGNC]
  • PSG4:pregnancy specific beta-1-glycoprotein 4 [Gene - OMIM - HGNC]
  • PSG5:pregnancy specific beta-1-glycoprotein 5 [Gene - OMIM - HGNC]
  • PSG6:pregnancy specific beta-1-glycoprotein 6 [Gene - OMIM - HGNC]
  • PSG7:pregnancy specific beta-1-glycoprotein 7 [Gene - OMIM - HGNC]
  • PSG8:pregnancy specific beta-1-glycoprotein 8 [Gene - OMIM - HGNC]
  • PSG9:pregnancy specific beta-1-glycoprotein 9 [Gene - OMIM - HGNC]
  • PSENEN:presenilin enhancer, gamma-secretase subunit [Gene - OMIM - HGNC]
  • PDCD2L:programmed cell death 2 like [Gene - OMIM - HGNC]
  • PDCD5:programmed cell death 5 [Gene - OMIM - HGNC]
  • PROSER3:proline and serine rich 3 [Gene - HGNC]
  • PRODH2:proline dehydrogenase 2 [Gene - OMIM - HGNC]
  • PRR19:proline rich 19 [Gene - HGNC]
  • PTGIR:prostaglandin I2 receptor [Gene - OMIM - HGNC]
  • PSMC4:proteasome 26S subunit, ATPase 4 [Gene - OMIM - HGNC]
  • PSMD8:proteasome 26S subunit, non-ATPase 8 [Gene - OMIM - HGNC]
  • PRKD2:protein kinase D2 [Gene - OMIM - HGNC]
  • PPP1R14A:protein phosphatase 1 regulatory inhibitor subunit 14A [Gene - OMIM - HGNC]
  • PPP1R13L:protein phosphatase 1 regulatory subunit 13 like [Gene - OMIM - HGNC]
  • PPP1R37:protein phosphatase 1 regulatory subunit 37 [Gene - HGNC]
  • PPP5C:protein phosphatase 5 catalytic subunit [Gene - OMIM - HGNC]
  • PPM1N:protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) [Gene - HGNC]
  • RSPH6A:radial spoke head 6 homolog A [Gene - OMIM - HGNC]
  • RGS9BP:regulator of G protein signaling 9 binding protein [Gene - OMIM - HGNC]
  • RTN2:reticulon 2 [Gene - OMIM - HGNC]
  • RHPN2:rhophilin Rho GTPase binding protein 2 [Gene - OMIM - HGNC]
  • RPL18:ribosomal protein L18 [Gene - OMIM - HGNC]
  • RPS16:ribosomal protein S16 [Gene - OMIM - HGNC]
  • RPS19:ribosomal protein S19 [Gene - OMIM - HGNC]
  • RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
  • SCGB2B2:secretoglobin family 2B member 2 [Gene - OMIM - HGNC]
  • SELENOV:selenoprotein V [Gene - OMIM - HGNC]
  • SELENOW:selenoprotein W [Gene - OMIM - HGNC]
  • SPINT2:serine peptidase inhibitor, Kunitz type 2 [Gene - OMIM - HGNC]
  • SRRM5:serine/arginine repetitive matrix 5 [Gene - HGNC]
  • SARS2:seryl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • SIPA1L3:signal induced proliferation associated 1 like 3 [Gene - OMIM - HGNC]
  • SIRT2:sirtuin 2 [Gene - OMIM - HGNC]
  • SNRPD2:small nuclear ribonucleoprotein D2 polypeptide [Gene - OMIM - HGNC]
  • SNRPA:small nuclear ribonucleoprotein polypeptide A [Gene - OMIM - HGNC]
  • SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]
  • SLC1A5:solute carrier family 1 member 5 [Gene - OMIM - HGNC]
  • SLC7A10:solute carrier family 7 member 10 [Gene - OMIM - HGNC]
  • SLC7A9:solute carrier family 7 member 9 [Gene - OMIM - HGNC]
  • SLC8A2:solute carrier family 8 member A2 [Gene - OMIM - HGNC]
  • SPTBN4:spectrin beta, non-erythrocytic 4 [Gene - OMIM - HGNC]
  • SYNE4:spectrin repeat containing nuclear envelope family member 4 [Gene - OMIM - HGNC]
  • SPACA4:sperm acrosome associated 4 [Gene - OMIM - HGNC]
  • SPHK2:sphingosine kinase 2 [Gene - OMIM - HGNC]
  • SPRED3:sprouty related EVH1 domain containing 3 [Gene - OMIM - HGNC]
  • SAMD4B:sterile alpha motif domain containing 4B [Gene - OMIM - HGNC]
  • STRN4:striatin 4 [Gene - OMIM - HGNC]
  • SDHAF1:succinate dehydrogenase complex assembly factor 1 [Gene - OMIM - HGNC]
  • SULT2A1:sulfotransferase family 2A member 1 [Gene - OMIM - HGNC]
  • SULT2B1:sulfotransferase family 2B member 1 [Gene - OMIM - HGNC]
  • SBSN:suprabasin [Gene - OMIM - HGNC]
  • SYMPK:symplekin scaffold protein [Gene - OMIM - HGNC]
  • SYNGR4:synaptogyrin 4 [Gene - OMIM - HGNC]
  • SYCN:syncollin [Gene - OMIM - HGNC]
  • TRU-TCA1-1:tRNA-SeC (anticodon TCA) 1-1 [Gene - OMIM - HGNC]
  • TSHZ3:teashirt zinc finger homeobox 3 [Gene - OMIM - HGNC]
  • TEX101:testis expressed 101 [Gene - OMIM - HGNC]
  • TPRX1:tetrapeptide repeat homeobox 1 [Gene - OMIM - HGNC]
  • TTC9B:tetratricopeptide repeat domain 9B [Gene - HGNC]
  • TRAPPC6A:trafficking protein particle complex subunit 6A [Gene - OMIM - HGNC]
  • TGFB1:transforming growth factor beta 1 [Gene - OMIM - HGNC]
  • TIMM50:translocase of inner mitochondrial membrane 50 [Gene - OMIM - HGNC]
  • TOMM40:translocase of outer mitochondrial membrane 40 [Gene - OMIM - HGNC]
  • TYROBP:transmembrane immune signaling adaptor TYROBP [Gene - OMIM - HGNC]
  • TMEM143:transmembrane protein 143 [Gene - HGNC]
  • TMEM145:transmembrane protein 145 [Gene - HGNC]
  • TMEM147:transmembrane protein 147 [Gene - OMIM - HGNC]
  • TMEM160:transmembrane protein 160 [Gene - OMIM - HGNC]
  • TMEM91:transmembrane protein 91 [Gene - OMIM - HGNC]
  • TBCB:tubulin folding cofactor B [Gene - OMIM - HGNC]
  • TDRD12:tudor domain containing 12 [Gene - HGNC]
  • UQCRFS1:ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [Gene - OMIM - HGNC]
  • UBA2:ubiquitin like modifier activating enzyme 2 [Gene - OMIM - HGNC]
  • LOC100507646:uncharacterized LOC100507646 [Gene]
  • LOC400706:uncharacterized LOC400706 [Gene]
  • USF2:upstream transcription factor 2, c-fos interacting [Gene - OMIM - HGNC]
  • UPK1A:uroplakin 1A [Gene - OMIM - HGNC]
  • VASP:vasodilator stimulated phosphoprotein [Gene - OMIM - HGNC]
  • ZC3H4:zinc finger CCCH-type containing 4 [Gene - OMIM - HGNC]
  • ZSWIM9:zinc finger SWIM-type containing 9 [Gene - HGNC]
  • ZBTB32:zinc finger and BTB domain containing 32 [Gene - OMIM - HGNC]
  • ZNF112:zinc finger protein 112 [Gene - OMIM - HGNC]
  • ZNF114:zinc finger protein 114 [Gene - OMIM - HGNC]
  • ZNF146:zinc finger protein 146 [Gene - OMIM - HGNC]
  • ZNF155:zinc finger protein 155 [Gene - OMIM - HGNC]
  • ZNF180:zinc finger protein 180 [Gene - OMIM - HGNC]
  • ZNF181:zinc finger protein 181 [Gene - OMIM - HGNC]
  • ZNF221:zinc finger protein 221 [Gene - HGNC]
  • ZNF222:zinc finger protein 222 [Gene - OMIM - HGNC]
  • ZNF223:zinc finger protein 223 [Gene - HGNC]
  • ZNF224:zinc finger protein 224 [Gene - OMIM - HGNC]
  • ZNF225:zinc finger protein 225 [Gene - HGNC]
  • ZNF226:zinc finger protein 226 [Gene - HGNC]
  • ZNF227:zinc finger protein 227 [Gene - HGNC]
  • ZNF229:zinc finger protein 229 [Gene - HGNC]
  • ZNF230:zinc finger protein 230 [Gene - HGNC]
  • ZNF233:zinc finger protein 233 [Gene - HGNC]
  • ZNF234:zinc finger protein 234 [Gene - OMIM - HGNC]
  • ZNF235:zinc finger protein 235 [Gene - OMIM - HGNC]
  • ZNF260:zinc finger protein 260 [Gene - OMIM - HGNC]
  • ZNF283:zinc finger protein 283 [Gene - HGNC]
  • ZNF284:zinc finger protein 284 [Gene - HGNC]
  • ZNF285:zinc finger protein 285 [Gene - HGNC]
  • ZNF296:zinc finger protein 296 [Gene - OMIM - HGNC]
  • ZNF302:zinc finger protein 302 [Gene - HGNC]
  • ZNF30:zinc finger protein 30 [Gene - HGNC]
  • ZNF345:zinc finger protein 345 [Gene - HGNC]
  • ZNF382:zinc finger protein 382 [Gene - OMIM - HGNC]
  • ZNF383:zinc finger protein 383 [Gene - OMIM - HGNC]
  • ZNF404:zinc finger protein 404 [Gene - HGNC]
  • ZNF420:zinc finger protein 420 [Gene - OMIM - HGNC]
  • ZNF428:zinc finger protein 428 [Gene - HGNC]
  • ZNF45:zinc finger protein 45 [Gene - OMIM - HGNC]
  • ZNF461:zinc finger protein 461 [Gene - OMIM - HGNC]
  • ZNF507:zinc finger protein 507 [Gene - HGNC]
  • ZNF526:zinc finger protein 526 [Gene - OMIM - HGNC]
  • ZNF527:zinc finger protein 527 [Gene - HGNC]
  • ZNF529:zinc finger protein 529 [Gene - HGNC]
  • ZNF536:zinc finger protein 536 [Gene - OMIM - HGNC]
  • ZNF540:zinc finger protein 540 [Gene - OMIM - HGNC]
  • ZNF541:zinc finger protein 541 [Gene - OMIM - HGNC]
  • ZNF546:zinc finger protein 546 [Gene - HGNC]
  • ZNF565:zinc finger protein 565 [Gene - OMIM - HGNC]
  • ZNF566:zinc finger protein 566 [Gene - HGNC]
  • ZNF567:zinc finger protein 567 [Gene - HGNC]
  • ZNF568:zinc finger protein 568 [Gene - OMIM - HGNC]
  • ZNF569:zinc finger protein 569 [Gene - OMIM - HGNC]
  • ZNF570:zinc finger protein 570 [Gene - HGNC]
  • ZNF571:zinc finger protein 571 [Gene - HGNC]
  • ZNF573:zinc finger protein 573 [Gene - HGNC]
  • ZNF574:zinc finger protein 574 [Gene - HGNC]
  • ZNF575:zinc finger protein 575 [Gene - HGNC]
  • ZNF576:zinc finger protein 576 [Gene - HGNC]
  • ZNF585A:zinc finger protein 585A [Gene - HGNC]
  • ZNF585B:zinc finger protein 585B [Gene - HGNC]
  • ZNF599:zinc finger protein 599 [Gene - HGNC]
  • ZNF607:zinc finger protein 607 [Gene - HGNC]
  • ZNF780A:zinc finger protein 780A [Gene - HGNC]
  • ZNF780B:zinc finger protein 780B [Gene - HGNC]
  • ZNF781:zinc finger protein 781 [Gene - HGNC]
  • ZNF790:zinc finger protein 790 [Gene - HGNC]
  • ZNF792:zinc finger protein 792 [Gene - HGNC]
  • ZNF793:zinc finger protein 793 [Gene - HGNC]
  • ZNF829:zinc finger protein 829 [Gene - HGNC]
  • ZNF850:zinc finger protein 850 [Gene - HGNC]
  • ZNF875:zinc finger protein 875 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19q11-13.33
Genomic location:
Chr19: 28271106 - 49213832 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000987854Bionano Laboratories
    no assertion criteria provided
    		Pathogenic
    (Oct 13, 2017)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000987854.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

    Last Updated: Mar 26, 2023