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GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 12, 2014
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:
RCV000511360.3

Allele description [Variation Report for GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3]

GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3

Genes:
  • DECR2:2,4-dienoyl-CoA reductase 2 [Gene - OMIM - HGNC]
  • PDPK1:3-phosphoinositide dependent protein kinase 1 [Gene - OMIM - HGNC]
  • ABAT:4-aminobutyrate aminotransferase [Gene - OMIM - HGNC]
  • ARL6IP1:ADP ribosylation factor like GTPase 6 interacting protein 1 [Gene - OMIM - HGNC]
  • ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]
  • ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]
  • ABCC1:ATP binding cassette subfamily C member 1 (ABCC1 blood group) [Gene - OMIM - HGNC]
  • ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
  • ATP6V0C:ATPase H+ transporting V0 subunit c [Gene - OMIM - HGNC]
  • BAIAP3:BAI1 associated protein 3 [Gene - OMIM - HGNC]
  • BICDL2:BICD family like cargo adaptor 2 [Gene - OMIM - HGNC]
  • BRICD5:BRICHOS domain containing 5 [Gene - HGNC]
  • CLEC16A:C-type lectin domain containing 16A [Gene - OMIM - HGNC]
  • CLEC19A:C-type lectin domain containing 19A [Gene - HGNC]
  • C1QTNF8:C1q and TNF related 8 [Gene - OMIM - HGNC]
  • CASKIN1:CASK interacting protein 1 [Gene - OMIM - HGNC]
  • CORO7-PAM16:CORO7-PAM16 readthrough [Gene - HGNC]
  • CREBBP:CREB binding protein [Gene - OMIM - HGNC]
  • DEXI:Dexi homolog [Gene - OMIM - HGNC]
  • DNAJA3:DnaJ heat shock protein family (Hsp40) member A3 [Gene - OMIM - HGNC]
  • E4F1:E4F transcription factor 1 [Gene - OMIM - HGNC]
  • ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]
  • ERI2:ERI1 exoribonuclease family member 2 [Gene - HGNC]
  • FBXL16:F-box and leucine rich repeat protein 16 [Gene - OMIM - HGNC]
  • FLYWCH2:FLYWCH family member 2 [Gene - HGNC]
  • FLYWCH1:FLYWCH-type zinc finger 1 [Gene - OMIM - HGNC]
  • GNG13:G protein subunit gamma 13 [Gene - OMIM - HGNC]
  • GPR139:G protein-coupled receptor 139 [Gene - OMIM - HGNC]
  • GPRC5B:G protein-coupled receptor class C group 5 member B [Gene - OMIM - HGNC]
  • GSPT1:G1 to S phase transition 1 [Gene - OMIM - HGNC]
  • GLIS2:GLIS family zinc finger 2 [Gene - OMIM - HGNC]
  • HAPSTR1:HUWE1 associated protein modifying stress responses [Gene - HGNC]
  • IQCK:IQ motif containing K [Gene - HGNC]
  • ITPRIPL2:ITPRIP like 2 [Gene - HGNC]
  • JPT2:Jupiter microtubule associated homolog 2 [Gene - OMIM - HGNC]
  • LUC7L:LUC7 like [Gene - OMIM - HGNC]
  • LYRM1:LYR motif containing 1 [Gene - OMIM - HGNC]
  • MCRIP2:MAPK regulated corepressor interacting protein 2 [Gene - HGNC]
  • MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]
  • MPV17L:MPV17 mitochondrial inner membrane protein like [Gene - OMIM - HGNC]
  • MTRNR2L4:MT-RNR2 like 4 [Gene - HGNC]
  • MLST8:MTOR associated protein, LST8 homolog [Gene - OMIM - HGNC]
  • GNPTG:N-acetylglucosamine-1-phosphate transferase subunit gamma [Gene - OMIM - HGNC]
  • NAGPA:N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [Gene - OMIM - HGNC]
  • NAA60:N-alpha-acetyltransferase 60, NatF catalytic subunit [Gene - OMIM - HGNC]
  • MPG:N-methylpurine DNA glycosylase [Gene - OMIM - HGNC]
  • NTAN1:N-terminal asparagine amidase [Gene - OMIM - HGNC]
  • NDUFB10:NADH:ubiquinone oxidoreductase subunit B10 [Gene - OMIM - HGNC]
  • NOXO1:NADPH oxidase organizer 1 [Gene - OMIM - HGNC]
  • NHERF2:NHERF family PDZ scaffold protein 2 [Gene - OMIM - HGNC]
  • NHLRC4:NHL repeat containing 4 [Gene - HGNC]
  • NLRC3:NLR family CARD domain containing 3 [Gene - OMIM - HGNC]
  • NME3:NME/NM23 nucleoside diphosphate kinase 3 [Gene - OMIM - HGNC]
  • NME4:NME/NM23 nucleoside diphosphate kinase 4 [Gene - OMIM - HGNC]
  • NOMO1:NODAL modulator 1 [Gene - OMIM - HGNC]
  • NOMO2:NODAL modulator 2 [Gene - OMIM - HGNC]
  • NOMO3:NODAL modulator 3 [Gene - OMIM - HGNC]
  • NPRL3:NPR3 like, GATOR1 complex subunit [Gene - OMIM - HGNC]
  • NUBP1:NUBP iron-sulfur cluster assembly factor 1, cytosolic [Gene - OMIM - HGNC]
  • NUBP2:NUBP iron-sulfur cluster assembly factor 2, cytosolic [Gene - OMIM - HGNC]
  • NMRAL1:NmrA like redox sensor 1 [Gene - OMIM - HGNC]
  • PDZD9:PDZ domain containing 9 [Gene - HGNC]
  • RAB11FIP3:RAB11 family interacting protein 3 [Gene - OMIM - HGNC]
  • RAB26:RAB26, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB40C:RAB40C, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBFOX1:RNA binding fox-1 homolog 1 [Gene - OMIM - HGNC]
  • RNPS1:RNA binding protein with serine rich domain 1 [Gene - OMIM - HGNC]
  • POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
  • POLR3K:RNA polymerase III subunit K [Gene - OMIM - HGNC]
  • RPUSD1:RNA pseudouridine synthase domain containing 1 [Gene - HGNC]
  • RRN3:RRN3 homolog, RNA polymerase I transcription factor [Gene - OMIM - HGNC]
  • RMI2:RecQ mediated genome instability 2 [Gene - OMIM - HGNC]
  • ARHGDIG:Rho GDP dissociation inhibitor gamma [Gene - OMIM - HGNC]
  • SEC14L5:SEC14 like lipid binding 5 [Gene - OMIM - HGNC]
  • SLX4:SLX4 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • SMG1:SMG1 nonsense mediated mRNA decay associated PI3K related kinase [Gene - OMIM - HGNC]
  • SOX8:SRY-box transcription factor 8 [Gene - OMIM - HGNC]
  • STUB1:STIP1 homology and U-box containing protein 1 [Gene - OMIM - HGNC]
  • TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
  • THOC6:THO complex subunit 6 [Gene - OMIM - HGNC]
  • THUMPD1:THUMP domain containing 1 [Gene - OMIM - HGNC]
  • TRAF7:TNF receptor associated factor 7 [Gene - OMIM - HGNC]
  • TRAP1:TNF receptor associated protein 1 [Gene - OMIM - HGNC]
  • TNFRSF12A:TNF receptor superfamily member 12A [Gene - OMIM - HGNC]
  • TNFRSF17:TNF receptor superfamily member 17 [Gene - OMIM - HGNC]
  • TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
  • TSR3:TSR3 ribosome maturation factor [Gene - OMIM - HGNC]
  • UBALD1:UBA like domain containing 1 [Gene - HGNC]
  • VPS35L:VPS35 endosomal protein sorting factor like [Gene - OMIM - HGNC]
  • WFIKKN1:WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 [Gene - OMIM - HGNC]
  • WDR24:WD repeat domain 24 [Gene - OMIM - HGNC]
  • WDR90:WD repeat domain 90 [Gene - OMIM - HGNC]
  • ATF7IP2:activating transcription factor 7 interacting protein 2 [Gene - OMIM - HGNC]
  • ACSM1:acyl-CoA synthetase medium chain family member 1 [Gene - OMIM - HGNC]
  • ACSM2A:acyl-CoA synthetase medium chain family member 2A [Gene - OMIM - HGNC]
  • ACSM2B:acyl-CoA synthetase medium chain family member 2B [Gene - OMIM - HGNC]
  • ACSM3:acyl-CoA synthetase medium chain family member 3 [Gene - OMIM - HGNC]
  • ACSM5:acyl-CoA synthetase medium chain family member 5 [Gene - OMIM - HGNC]
  • ANTKMT:adenine nucleotide translocase lysine methyltransferase [Gene - OMIM - HGNC]
  • ADCY9:adenylate cyclase 9 [Gene - OMIM - HGNC]
  • AMDHD2:amidohydrolase domain containing 2 [Gene - HGNC]
  • ANKS3:ankyrin repeat and sterile alpha motif domain containing 3 [Gene - OMIM - HGNC]
  • ANKS4B:ankyrin repeat and sterile alpha motif domain containing 4B [Gene - OMIM - HGNC]
  • AXIN1:axin 1 [Gene - OMIM - HGNC]
  • BMERB1:bMERB domain containing 1 [Gene - HGNC]
  • BFAR:bifunctional apoptosis regulator [Gene - OMIM - HGNC]
  • BCAR4:breast cancer anti-estrogen resistance 4 [Gene - OMIM - HGNC]
  • CPPED1:calcineurin like phosphoesterase domain containing 1 [Gene - OMIM - HGNC]
  • CARHSP1:calcium regulated heat stable protein 1 [Gene - OMIM - HGNC]
  • CACNA1H:calcium voltage-gated channel subunit alpha1 H [Gene - OMIM - HGNC]
  • CAPN15:calpain 15 [Gene - OMIM - HGNC]
  • CDIP1:cell death inducing p53 target 1 [Gene - OMIM - HGNC]
  • CEMP1:cementum protein 1 [Gene - OMIM - HGNC]
  • CCP110:centriolar coiled-coil protein 110 [Gene - OMIM - HGNC]
  • CEP20:centrosomal protein 20 [Gene - OMIM - HGNC]
  • CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
  • CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]
  • C16orf89:chromosome 16 open reading frame 89 [Gene - HGNC]
  • C16orf90:chromosome 16 open reading frame 90 [Gene - HGNC]
  • C16orf96:chromosome 16 open reading frame 96 [Gene - HGNC]
  • CHTF18:chromosome transmission fidelity factor 18 [Gene - OMIM - HGNC]
  • CIITA:class II major histocompatibility complex transactivator [Gene - OMIM - HGNC]
  • CLDN6:claudin 6 [Gene - OMIM - HGNC]
  • CLDN9:claudin 9 [Gene - OMIM - HGNC]
  • CLUAP1:clusterin associated protein 1 [Gene - OMIM - HGNC]
  • COQ7:coenzyme Q7, hydroxylase [Gene - OMIM - HGNC]
  • CCDC154:coiled-coil domain containing 154 [Gene - OMIM - HGNC]
  • CCDC78:coiled-coil domain containing 78 [Gene - OMIM - HGNC]
  • CORO7:coronin 7 [Gene - OMIM - HGNC]
  • CRAMP1:cramped chromatin regulator homolog 1 [Gene - HGNC]
  • CRYM:crystallin mu [Gene - OMIM - HGNC]
  • CCNF:cyclin F [Gene - OMIM - HGNC]
  • CIAO3:cytosolic iron-sulfur assembly component 3 [Gene - OMIM - HGNC]
  • DCUN1D3:defective in cullin neddylation 1 domain containing 3 [Gene - OMIM - HGNC]
  • DNASE1L2:deoxyribonuclease 1 like 2 [Gene - OMIM - HGNC]
  • DNASE1:deoxyribonuclease 1 [Gene - OMIM - HGNC]
  • DNAAF8:dynein axonemal assembly factor 8 [Gene - HGNC]
  • DNAH3:dynein axonemal heavy chain 3 [Gene - OMIM - HGNC]
  • ELOB:elongin B [Gene - OMIM - HGNC]
  • ECI1:enoyl-CoA delta isomerase 1 [Gene - OMIM - HGNC]
  • EMP2:epithelial membrane protein 2 [Gene - OMIM - HGNC]
  • EME2:essential meiotic structure-specific endonuclease subunit 2 [Gene - OMIM - HGNC]
  • EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
  • EEF2KMT:eukaryotic elongation factor 2 lysine methyltransferase [Gene - OMIM - HGNC]
  • FAM234A:family with sequence similarity 234 member A [Gene - HGNC]
  • FAHD1:fumarylacetoacetate hydrolase domain containing 1 [Gene - OMIM - HGNC]
  • GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]
  • GDE1:glycerophosphodiester phosphodiesterase 1 [Gene - OMIM - HGNC]
  • GP2:glycoprotein 2 [Gene - OMIM - HGNC]
  • GLYR1:glyoxylate reductase 1 homolog [Gene - OMIM - HGNC]
  • GFER:growth factor, augmenter of liver regeneration [Gene - OMIM - HGNC]
  • HMOX2:heme oxygenase 2 [Gene - OMIM - HGNC]
  • HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
  • HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
  • HBM:hemoglobin subunit mu [Gene - OMIM - HGNC]
  • HBQ1:hemoglobin subunit theta 1 [Gene - OMIM - HGNC]
  • HBZ:hemoglobin subunit zeta [Gene - OMIM - HGNC]
  • HS3ST6:heparan sulfate-glucosamine 3-sulfotransferase 6 [Gene - OMIM - HGNC]
  • HCFC1R1:host cell factor C1 regulator 1 [Gene - OMIM - HGNC]
  • HAGHL:hydroxyacylglutathione hydrolase like [Gene - HGNC]
  • HAGH:hydroxyacylglutathione hydrolase [Gene - OMIM - HGNC]
  • IGSF6:immunoglobulin superfamily member 6 [Gene - OMIM - HGNC]
  • IGFALS:insulin like growth factor binding protein acid labile subunit [Gene - OMIM - HGNC]
  • IL32:interleukin 32 [Gene - OMIM - HGNC]
  • IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
  • JMJD8:jumonji domain containing 8 [Gene - HGNC]
  • KREMEN2:kringle containing transmembrane protein 2 [Gene - OMIM - HGNC]
  • LMF1:lipase maturation factor 1 [Gene - OMIM - HGNC]
  • LDAF1:lipid droplet assembly factor 1 [Gene - OMIM - HGNC]
  • LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]
  • KNOP1:lysine rich nucleolar protein 1 [Gene - HGNC]
  • MGRN1:mahogunin ring finger 1 [Gene - OMIM - HGNC]
  • MMP25:matrix metallopeptidase 25 [Gene - OMIM - HGNC]
  • MARF1:meiosis regulator and mRNA stability factor 1 [Gene - OMIM - HGNC]
  • MEIOB:meiosis specific with OB-fold [Gene - OMIM - HGNC]
  • MSLN:mesothelin [Gene - OMIM - HGNC]
  • METRN:meteorin, glial cell differentiation regulator [Gene - OMIM - HGNC]
  • MSRB1:methionine sulfoxide reductase B1 [Gene - OMIM - HGNC]
  • METTL22:methyltransferase 22, Kin17 lysine [Gene - OMIM - HGNC]
  • METTL9:methyltransferase 9, His-X-His N1(pi)-histidine [Gene - OMIM - HGNC]
  • METTL26:methyltransferase like 26 [Gene - HGNC]
  • MIR1225:microRNA 1225 [Gene - OMIM - HGNC]
  • MIR193B:microRNA 193b [Gene - OMIM - HGNC]
  • MIR365A:microRNA 365a [Gene - OMIM - HGNC]
  • MRPL28:mitochondrial ribosomal protein L28 [Gene - OMIM - HGNC]
  • MRPS34:mitochondrial ribosomal protein S34 [Gene - OMIM - HGNC]
  • MAPK8IP3:mitogen-activated protein kinase 8 interacting protein 3 [Gene - OMIM - HGNC]
  • MOSMO:modulator of smoothened [Gene - HGNC]
  • MRTFB:myocardin related transcription factor B [Gene - OMIM - HGNC]
  • MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
  • NTN3:netrin 3 [Gene - OMIM - HGNC]
  • NPW:neuropeptide W [Gene - OMIM - HGNC]
  • NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • NPIPA1:nuclear pore complex interacting protein family member A1 [Gene - OMIM - HGNC]
  • NPIPA2:nuclear pore complex interacting protein family member A2 [Gene - HGNC]
  • NPIPA3:nuclear pore complex interacting protein family member A3 [Gene - HGNC]
  • NPIPA5:nuclear pore complex interacting protein family member A5 [Gene - HGNC]
  • NPIPB3:nuclear pore complex interacting protein family member B3 [Gene - OMIM - HGNC]
  • NPIPB4:nuclear pore complex interacting protein family member B4 [Gene - HGNC]
  • NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
  • NUDT16L1:nudix hydrolase 16 like 1 [Gene - OMIM - HGNC]
  • OR1F1:olfactory receptor family 1 subfamily F member 1 [Gene - OMIM - HGNC]
  • OR2C1:olfactory receptor family 2 subfamily C member 1 [Gene - HGNC]
  • OTOA:otoancorin [Gene - OMIM - HGNC]
  • PTX4:pentraxin 4 [Gene - OMIM - HGNC]
  • PPL:periplakin [Gene - OMIM - HGNC]
  • PIGQ:phosphatidylinositol glycan anchor biosynthesis class Q [Gene - OMIM - HGNC]
  • PGP:phosphoglycolate phosphatase [Gene - OMIM - HGNC]
  • PLA2G10:phospholipase A2 group X [Gene - OMIM - HGNC]
  • PMM2:phosphomannomutase 2 [Gene - OMIM - HGNC]
  • PARN:poly(A)-specific ribonuclease [Gene - OMIM - HGNC]
  • PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • PGAP6:post-GPI attachment to proteins 6 [Gene - OMIM - HGNC]
  • KCTD5:potassium channel tetramerization domain containing 5 [Gene - OMIM - HGNC]
  • PAM16:presequence translocase associated motor 16 [Gene - OMIM - HGNC]
  • PAQR4:progestin and adipoQ receptor family member 4 [Gene - OMIM - HGNC]
  • PRR25:proline rich 25 [Gene - HGNC]
  • PRR35:proline rich 35 [Gene - HGNC]
  • PRM1:protamine 1 [Gene - OMIM - HGNC]
  • PRM2:protamine 2 [Gene - OMIM - HGNC]
  • PRM3:protamine 3 [Gene - HGNC]
  • PDIA2:protein disulfide isomerase family A member 2 [Gene - OMIM - HGNC]
  • PDILT:protein disulfide isomerase like, testis expressed [Gene - OMIM - HGNC]
  • PKMYT1:protein kinase, membrane associated tyrosine/threonine 1 [Gene - OMIM - HGNC]
  • PDXDC1:pyridoxal dependent decarboxylase domain containing 1 [Gene - OMIM - HGNC]
  • RHOT2:ras homolog family member T2 [Gene - OMIM - HGNC]
  • RGS11:regulator of G protein signaling 11 [Gene - OMIM - HGNC]
  • RHBDF1:rhomboid 5 homolog 1 [Gene - OMIM - HGNC]
  • RHBDL1:rhomboid like 1 [Gene - OMIM - HGNC]
  • RSL1D1:ribosomal L1 domain containing 1 [Gene - OMIM - HGNC]
  • RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]
  • RPS15A:ribosomal protein S15a [Gene - OMIM - HGNC]
  • RPS2:ribosomal protein S2 [Gene - OMIM - HGNC]
  • RNF151:ring finger protein 151 [Gene - HGNC]
  • ROGDI:rogdi atypical leucine zipper [Gene - OMIM - HGNC]
  • SRL:sarcalumenin [Gene - OMIM - HGNC]
  • SEPTIN12:septin 12 [Gene - OMIM - HGNC]
  • PRSS21:serine protease 21 [Gene - OMIM - HGNC]
  • PRSS22:serine protease 22 [Gene - OMIM - HGNC]
  • PRSS27:serine protease 27 [Gene - OMIM - HGNC]
  • PRSS33:serine protease 33 [Gene - OMIM - HGNC]
  • PRSS41:serine protease 41 [Gene - HGNC]
  • SRRM2:serine/arginine repetitive matrix 2 [Gene - OMIM - HGNC]
  • SHISA9:shisa family member 9 [Gene - OMIM - HGNC]
  • SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
  • SMIM22:small integral membrane protein 22 [Gene - HGNC]
  • SNRNP25:small nuclear ribonucleoprotein U11/U12 subunit 25 [Gene - HGNC]
  • SNHG9:small nucleolar RNA host gene 9 [Gene - HGNC]
  • SSTR5:somatostatin receptor 5 [Gene - OMIM - HGNC]
  • SNX29:sorting nexin 29 [Gene - HGNC]
  • SPSB3:splA/ryanodine receptor domain and SOCS box containing 3 [Gene - OMIM - HGNC]
  • SNN:stannin [Gene - OMIM - HGNC]
  • SOCS1:suppressor of cytokine signaling 1 [Gene - OMIM - HGNC]
  • SYNGR3:synaptogyrin 3 [Gene - OMIM - HGNC]
  • SYT17:synaptotagmin 17 [Gene - HGNC]
  • TEKT5:tektin 5 [Gene - OMIM - HGNC]
  • TELO2:telomere maintenance 2 [Gene - OMIM - HGNC]
  • TXNDC11:thioredoxin domain containing 11 [Gene - OMIM - HGNC]
  • TIGD7:tigger transposable element derived 7 [Gene - OMIM - HGNC]
  • TVP23A:trans-golgi network vesicle protein 23 homolog A [Gene - HGNC]
  • TFAP4:transcription factor AP-4 [Gene - OMIM - HGNC]
  • TBL3:transducin beta like 3 [Gene - OMIM - HGNC]
  • TNP2:transition protein 2 [Gene - OMIM - HGNC]
  • TMC5:transmembrane channel like 5 [Gene - OMIM - HGNC]
  • TMC7:transmembrane channel like 7 [Gene - OMIM - HGNC]
  • TMEM114:transmembrane protein 114 [Gene - OMIM - HGNC]
  • TMEM186:transmembrane protein 186 [Gene - OMIM - HGNC]
  • TMEM204:transmembrane protein 204 [Gene - OMIM - HGNC]
  • TPSAB1:tryptase alpha/beta 1 [Gene - OMIM - HGNC]
  • TPSB2:tryptase beta 2 [Gene - OMIM - HGNC]
  • TPSD1:tryptase delta 1 [Gene - OMIM - HGNC]
  • TPSG1:tryptase gamma 1 [Gene - OMIM - HGNC]
  • TEDC2:tubulin epsilon and delta complex 2 [Gene - HGNC]
  • UBN1:ubinuclein 1 [Gene - OMIM - HGNC]
  • UQCC4:ubiquinol-cytochrome c reductase complex assembly factor 4 [Gene - OMIM - HGNC]
  • UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
  • UBE2I:ubiquitin conjugating enzyme E2 I [Gene - OMIM - HGNC]
  • USP7:ubiquitin specific peptidase 7 [Gene - OMIM - HGNC]
  • UNKL:unk like zinc finger [Gene - OMIM - HGNC]
  • UMOD:uromodulin [Gene - OMIM - HGNC]
  • VASN:vasorin [Gene - OMIM - HGNC]
  • VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
  • XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]
  • ZC3H7A:zinc finger CCCH-type containing 7A [Gene - OMIM - HGNC]
  • ZSCAN10:zinc finger and SCAN domain containing 10 [Gene - OMIM - HGNC]
  • ZSCAN32:zinc finger and SCAN domain containing 32 [Gene - HGNC]
  • ZNF174:zinc finger protein 174 [Gene - OMIM - HGNC]
  • ZNF200:zinc finger protein 200 [Gene - OMIM - HGNC]
  • ZNF205:zinc finger protein 205 [Gene - OMIM - HGNC]
  • ZNF213:zinc finger protein 213 [Gene - OMIM - HGNC]
  • ZNF263:zinc finger protein 263 [Gene - OMIM - HGNC]
  • ZNF500:zinc finger protein 500 [Gene - HGNC]
  • ZNF597:zinc finger protein 597 [Gene - OMIM - HGNC]
  • ZNF598:zinc finger protein 598, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • ZNF75A:zinc finger protein 75A [Gene - OMIM - HGNC]
  • ZP2:zona pellucida glycoprotein 2 [Gene - OMIM - HGNC]
  • ZG16B:zymogen granule protein 16B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p13.3-12.2
Genomic location:
Chr16: 85880 - 22442007 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3
HGVS:
    Links:
    dbVar: nssv13638573; dbVar: nsv2777340
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000585859ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Sep 12, 2014)     		unknownclinical testing

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

    Help

    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, SCV000585859.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024