U.S. flag

An official website of the United States government

  • delete

GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
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:
RCV000448557.1

Allele description

GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3

Genes:
  • AKAP5:A-kinase anchoring protein 5 [Gene - OMIM - HGNC]
  • ADAM20:ADAM metallopeptidase domain 20 [Gene - OMIM - HGNC]
  • ADAM21:ADAM metallopeptidase domain 21 [Gene - OMIM - HGNC]
  • AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
  • AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • ABCD4:ATP binding cassette subfamily D member 4 [Gene - OMIM - HGNC]
  • ATP5MJ:ATP synthase membrane subunit j [Gene - OMIM - HGNC]
  • ATP6V1D:ATPase H+ transporting V1 subunit D [Gene - OMIM - HGNC]
  • BCL11B:BAF chromatin remodeling complex subunit BCL11B [Gene - OMIM - HGNC]
  • BAG5:BAG cochaperone 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]
  • CHURC1-FNTB:CHURC1-FNTB readthrough [Gene - HGNC]
  • CIPC:CLOCK interacting pacemaker [Gene - OMIM - HGNC]
  • DGLUCY:D-glutamate cyclase [Gene - HGNC]
  • DCAF4:DDB1 and CUL4 associated factor 4 [Gene - OMIM - HGNC]
  • DCAF5:DDB1 and CUL4 associated factor 5 [Gene - OMIM - HGNC]
  • DDX24:DEAD-box helicase 24 [Gene - OMIM - HGNC]
  • DIO3OS:DIO3 opposite strand upstream RNA [Gene - OMIM - HGNC]
  • EFCAB11:EF-hand calcium binding domain 11 [Gene - HGNC]
  • EML1:EMAP like 1 [Gene - OMIM - HGNC]
  • EML5:EMAP like 5 [Gene - OMIM - HGNC]
  • ERH:ERH mRNA splicing and mitosis factor [Gene - OMIM - HGNC]
  • EVL:Enah/Vasp-like [Gene - OMIM - HGNC]
  • FAM161B:FAM161 centrosomal protein B [Gene - HGNC]
  • FCF1:FCF1 rRNA-processing protein [Gene - HGNC]
  • FLVCR2:FLVCR heme transporter 2 [Gene - OMIM - HGNC]
  • FOS:Fos proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • GPR132:G protein-coupled receptor 132 [Gene - OMIM - HGNC]
  • GPR65:G protein-coupled receptor 65 [Gene - OMIM - HGNC]
  • GPR68:G protein-coupled receptor 68 [Gene - OMIM - HGNC]
  • GPATCH2L:G-patch domain containing 2 like [Gene - HGNC]
  • GON7:GON7 subunit of KEOPS complex [Gene - OMIM - HGNC]
  • GSKIP:GSK3B interacting protein [Gene - OMIM - HGNC]
  • HEATR4:HEAT repeat containing 4 [Gene - HGNC]
  • HHIPL1:HHIP like 1 [Gene - HGNC]
  • JDP2:Jun dimerization protein 2 [Gene - OMIM - HGNC]
  • MOK:MOK protein kinase [Gene - OMIM - HGNC]
  • MAX:MYC associated factor X [Gene - OMIM - HGNC]
  • NDUFB1:NADH:ubiquinone oxidoreductase subunit B1 [Gene - OMIM - HGNC]
  • NOXRED1:NADP dependent oxidoreductase domain containing 1 [Gene - HGNC]
  • NEK9:NIMA related kinase 9 [Gene - OMIM - HGNC]
  • NPC2:NPC intracellular cholesterol transporter 2 [Gene - OMIM - HGNC]
  • NRDE2:NRDE-2, necessary for RNA interference, domain containing [Gene - OMIM - HGNC]
  • NUMB:NUMB endocytic adaptor protein [Gene - OMIM - HGNC]
  • OTUB2:OTU deubiquitinase, ubiquitin aldehyde binding 2 [Gene - OMIM - HGNC]
  • PAPOLA-DT:PAPOLA divergent transcript [Gene - HGNC]
  • PNMA1:PNMA family member 1 [Gene - OMIM - HGNC]
  • RAB15:RAB15, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAD51B:RAD51 paralog B [Gene - OMIM - HGNC]
  • RD3L:RD3 like [Gene - HGNC]
  • RCOR1:REST corepressor 1 [Gene - OMIM - HGNC]
  • RBM25:RNA binding motif protein 25 [Gene - OMIM - HGNC]
  • RIN3:Ras and Rab interactor 3 [Gene - OMIM - HGNC]
  • SEL1L:SEL1L adaptor subunit of ERAD E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • SETD3:SET domain containing 3, actin histidine methyltransferase [Gene - OMIM - HGNC]
  • SIVA1:SIVA1 apoptosis inducing factor [Gene - OMIM - HGNC]
  • SNW1:SNW domain containing 1 [Gene - OMIM - HGNC]
  • SMOC1:SPARC related modular calcium binding 1 [Gene - OMIM - HGNC]
  • SLIRP:SRA stem-loop interacting RNA binding protein [Gene - OMIM - HGNC]
  • TCL6:T cell leukemia/lymphoma 6 [Gene - OMIM - HGNC]
  • TCL1A:TCL1 family AKT coactivator A [Gene - OMIM - HGNC]
  • TCL1B:TCL1 family AKT coactivator B [Gene - OMIM - HGNC]
  • TNFAIP2:TNF alpha induced protein 2 [Gene - OMIM - HGNC]
  • TRAF3:TNF receptor associated factor 3 [Gene - OMIM - HGNC]
  • VIPAS39:VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog [Gene - OMIM - HGNC]
  • 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]
  • WDR89:WD repeat domain 89 [Gene - HGNC]
  • XRCC3:X-ray repair cross complementing 3 [Gene - OMIM - HGNC]
  • YLPM1:YLP motif containing 1 [Gene - HGNC]
  • YY1:YY1 transcription factor [Gene - OMIM - HGNC]
  • ZFP36L1:ZFP36 ring finger protein like 1 [Gene - OMIM - HGNC]
  • ADCK1:aarF domain containing kinase 1 [Gene - HGNC]
  • ACTN1:actinin alpha 1 [Gene - OMIM - HGNC]
  • AHSA1:activator of HSP90 ATPase activity 1 [Gene - OMIM - HGNC]
  • ACOT1:acyl-CoA thioesterase 1 [Gene - OMIM - HGNC]
  • ACOT2:acyl-CoA thioesterase 2 [Gene - OMIM - HGNC]
  • ACOT4:acyl-CoA thioesterase 4 [Gene - OMIM - HGNC]
  • ACOT6:acyl-CoA thioesterase 6 [Gene - OMIM - HGNC]
  • ACYP1:acylphosphatase 1 [Gene - OMIM - HGNC]
  • AK7:adenylate kinase 7 [Gene - OMIM - HGNC]
  • ADSS1:adenylosuccinate synthase 1 [Gene - OMIM - HGNC]
  • ALDH6A1:aldehyde dehydrogenase 6 family member A1 [Gene - OMIM - HGNC]
  • ALKBH1:alkB homolog 1, histone H2A dioxygenase [Gene - OMIM - HGNC]
  • AMN:amnion associated transmembrane protein [Gene - OMIM - HGNC]
  • ANGEL1:angel homolog 1 [Gene - OMIM - HGNC]
  • ASB2:ankyrin repeat and SOCS box containing 2 [Gene - OMIM - HGNC]
  • ANKRD9:ankyrin repeat domain 9 [Gene - OMIM - HGNC]
  • AREL1:apoptosis resistant E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • ARG2:arginase 2 [Gene - OMIM - HGNC]
  • ASPG:asparaginase [Gene - OMIM - HGNC]
  • ATXN3:ataxin 3 [Gene - OMIM - HGNC]
  • ATG2B:autophagy related 2B [Gene - OMIM - HGNC]
  • BBOF1:basal body orientation factor 1 [Gene - HGNC]
  • BATF:basic leucine zipper ATF-like transcription factor [Gene - OMIM - HGNC]
  • BDKRB1:bradykinin receptor B1 [Gene - OMIM - HGNC]
  • BDKRB2:bradykinin receptor B2 [Gene - OMIM - HGNC]
  • BEGAIN:brain enriched guanylate kinase associated [Gene - OMIM - HGNC]
  • CLMN:calmin [Gene - OMIM - HGNC]
  • CALM1:calmodulin 1 [Gene - OMIM - HGNC]
  • CATSPERB:cation channel sperm associated auxiliary subunit beta [Gene - OMIM - HGNC]
  • CDCA4:cell division cycle associated 4 [Gene - OMIM - HGNC]
  • CEP128:centrosomal protein 128 [Gene - HGNC]
  • CEP170B:centrosomal protein 170B [Gene - HGNC]
  • CHGA:chromogranin A [Gene - OMIM - HGNC]
  • C14orf132:chromosome 14 open reading frame 132 [Gene - HGNC]
  • C14orf178:chromosome 14 open reading frame 178 [Gene - HGNC]
  • C14orf180:chromosome 14 open reading frame 180 [Gene - OMIM - HGNC]
  • CHURC1:churchill domain containing 1 [Gene - OMIM - HGNC]
  • CLBA1:clathrin binding box of aftiphilin containing 1 [Gene - HGNC]
  • CPSF2:cleavage and polyadenylation specific factor 2 [Gene - OMIM - HGNC]
  • COQ6:coenzyme Q6, monooxygenase [Gene - OMIM - HGNC]
  • CCDC177:coiled-coil domain containing 177 [Gene - HGNC]
  • CCDC85C:coiled-coil domain containing 85C [Gene - HGNC]
  • CCDC88C:coiled-coil domain containing 88C [Gene - OMIM - 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]
  • COX16:cytochrome c oxidase assembly factor COX16 [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]
  • DLST:dihydrolipoamide S-succinyltransferase [Gene - OMIM - HGNC]
  • DPF3:double PHD fingers 3 [Gene - OMIM - HGNC]
  • DNAL1:dynein axonemal light chain 1 [Gene - OMIM - HGNC]
  • DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]
  • ENTPD5:ectonucleoside triphosphate diphosphohydrolase 5 (inactive) [Gene - OMIM - HGNC]
  • ERG28:ergosterol biosynthesis 28 homolog [Gene - OMIM - HGNC]
  • ESR2:estrogen receptor 2 [Gene - OMIM - HGNC]
  • ESRRB:estrogen related receptor beta [Gene - OMIM - HGNC]
  • EIF2S1:eukaryotic translation initiation factor 2 subunit alpha [Gene - OMIM - HGNC]
  • EIF2B2:eukaryotic translation initiation factor 2B subunit beta [Gene - OMIM - HGNC]
  • EIF5:eukaryotic translation initiation factor 5 [Gene - OMIM - HGNC]
  • EXOC3L4:exocyst complex component 3 like 4 [Gene - HGNC]
  • EXD2:exonuclease 3'-5' domain containing 2 [Gene - OMIM - HGNC]
  • FAM181A:family with sequence similarity 181 member A [Gene - HGNC]
  • FNTB:farnesyltransferase, CAAX box, beta [Gene - OMIM - HGNC]
  • FLRT2:fibronectin leucine rich transmembrane protein 2 [Gene - OMIM - HGNC]
  • FBLN5:fibulin 5 [Gene - OMIM - HGNC]
  • FOXN3:forkhead box N3 [Gene - OMIM - HGNC]
  • FUT8:fucosyltransferase 8 [Gene - OMIM - HGNC]
  • GALC:galactosylceramidase [Gene - OMIM - HGNC]
  • GTF2A1:general transcription factor IIA subunit 1 [Gene - OMIM - HGNC]
  • GPHN:gephyrin [Gene - OMIM - HGNC]
  • GLRX5:glutaredoxin 5 [Gene - OMIM - HGNC]
  • GSTZ1:glutathione S-transferase zeta 1 [Gene - OMIM - HGNC]
  • GPX2:glutathione peroxidase 2 [Gene - OMIM - HGNC]
  • GPHB5:glycoprotein hormone subunit beta 5 [Gene - OMIM - HGNC]
  • GARIN2:golgi associated RAB2 interactor family member 2 [Gene - 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]
  • HSPA2:heat shock protein family A (Hsp70) member 2 [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]
  • IGHD3-3:immunoglobulin heavy diversity 3-3 [Gene - OMIM - HGNC]
  • IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - HGNC]
  • IGHV3-23:immunoglobulin heavy variable 3-23 [Gene - OMIM - 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]
  • IRF2BPL:interferon regulatory factor 2 binding protein like [Gene - OMIM - HGNC]
  • IFT43:intraflagellar transport 43 [Gene - OMIM - HGNC]
  • INF2:inverted formin 2 [Gene - OMIM - HGNC]
  • DIO2:iodothyronine deiodinase 2 [Gene - OMIM - HGNC]
  • DIO3:iodothyronine deiodinase 3 [Gene - OMIM - HGNC]
  • ISCA2:iron-sulfur cluster assembly 2 [Gene - OMIM - HGNC]
  • ISM2:isthmin 2 [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]
  • LTBP2:latent transforming growth factor beta binding protein 2 [Gene - OMIM - HGNC]
  • LGMN:legumain [Gene - OMIM - HGNC]
  • LRRC74A:leucine rich repeat containing 74A [Gene - HGNC]
  • LIN52:lin-52 DREAM MuvB core complex component [Gene - HGNC]
  • LINC02914:long intergenic non-protein coding RNA 2914 [Gene - HGNC]
  • MEG3:maternally expressed 3 [Gene - OMIM - HGNC]
  • MEG8:maternally expressed 8, small nucleolar RNA host gene [Gene - OMIM - HGNC]
  • MED6:mediator complex subunit 6 [Gene - OMIM - HGNC]
  • MTA1:metastasis associated 1 [Gene - OMIM - HGNC]
  • MTHFD1:methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [Gene - OMIM - HGNC]
  • MIR127:microRNA 127 [Gene - OMIM - HGNC]
  • MIR134:microRNA 134 [Gene - OMIM - HGNC]
  • MIR136:microRNA 136 [Gene - OMIM - HGNC]
  • MIR203A:microRNA 203a [Gene - OMIM - 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]
  • MIR380:microRNA 380 [Gene - OMIM - HGNC]
  • MIR409:microRNA 409 [Gene - OMIM - HGNC]
  • MIR410:microRNA 410 [Gene - OMIM - HGNC]
  • MIR431:microRNA 431 [Gene - OMIM - HGNC]
  • MIR433:microRNA 433 [Gene - OMIM - HGNC]
  • MIR487B:microRNA 487b [Gene - OMIM - HGNC]
  • MIR495:microRNA 495 [Gene - OMIM - HGNC]
  • MARK3:microtubule affinity regulating kinase 3 [Gene - OMIM - HGNC]
  • MAP3K9:mitogen-activated protein kinase kinase kinase 9 [Gene - OMIM - HGNC]
  • MIDEAS:mitotic deacetylase associated SANT domain protein [Gene - HGNC]
  • MOAP1:modulator of apoptosis 1 [Gene - OMIM - HGNC]
  • MLH3:mutL homolog 3 [Gene - OMIM - HGNC]
  • NGB:neuroglobin [Gene - OMIM - HGNC]
  • NUDT14:nudix hydrolase 14 [Gene - OMIM - HGNC]
  • PAPLN:papilin, proteoglycan like sulfated glycoprotein [Gene - OMIM - HGNC]
  • PCNX1:pecanex 1 [Gene - OMIM - HGNC]
  • PIGH:phosphatidylinositol glycan anchor biosynthesis class H [Gene - OMIM - HGNC]
  • PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]
  • PLD4:phospholipase D family member 4 [Gene - OMIM - HGNC]
  • PGF:placental growth factor [Gene - OMIM - HGNC]
  • PLEK2:pleckstrin 2 [Gene - OMIM - HGNC]
  • PLEKHG3:pleckstrin homology and RhoGEF domain containing G3 [Gene - OMIM - HGNC]
  • PLEKHD1:pleckstrin homology and coiled-coil domain containing D1 [Gene - HGNC]
  • PLEKHH1:pleckstrin homology, MyTH4 and FERM domain containing H1 [Gene - HGNC]
  • PAPOLA:poly(A) polymerase alpha [Gene - OMIM - HGNC]
  • GALNT16:polypeptide N-acetylgalactosaminyltransferase 16 [Gene - OMIM - HGNC]
  • KCNK10:potassium two pore domain channel subfamily K member 10 [Gene - OMIM - HGNC]
  • KCNK13:potassium two pore domain channel subfamily K member 13 [Gene - OMIM - HGNC]
  • KCNH5:potassium voltage-gated channel subfamily H member 5 [Gene - OMIM - HGNC]
  • PSEN1:presenilin 1 [Gene - OMIM - HGNC]
  • PRIMA1:proline rich membrane anchor 1 [Gene - OMIM - HGNC]
  • PROX2:prospero homeobox 2 [Gene - OMIM - HGNC]
  • PTGR2:prostaglandin reductase 2 [Gene - OMIM - HGNC]
  • PSMC1:proteasome 26S subunit, ATPase 1 [Gene - OMIM - HGNC]
  • POMT2:protein O-mannosyltransferase 2 [Gene - OMIM - HGNC]
  • PALS1:protein associated with LIN7 1, MAGUK p55 family member [Gene - OMIM - HGNC]
  • PPP1R13B:protein phosphatase 1 regulatory subunit 13B [Gene - OMIM - HGNC]
  • PPP1R36:protein phosphatase 1 regulatory subunit 36 [Gene - HGNC]
  • PPP2R5E:protein phosphatase 2 regulatory subunit B'epsilon [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]
  • PTPN21:protein tyrosine phosphatase non-receptor type 21 [Gene - OMIM - HGNC]
  • RHOJ:ras homolog family member J [Gene - OMIM - HGNC]
  • RGS6:regulator of G protein signaling 6 [Gene - OMIM - HGNC]
  • RDH11:retinol dehydrogenase 11 [Gene - OMIM - HGNC]
  • RDH12:retinol dehydrogenase 12 [Gene - OMIM - HGNC]
  • RTL1:retrotransposon Gag like 1 [Gene - OMIM - HGNC]
  • RIOX1:ribosomal oxygenase 1 [Gene - OMIM - HGNC]
  • RPS6KA5:ribosomal protein S6 kinase A5 [Gene - OMIM - HGNC]
  • RPS6KL1:ribosomal protein S6 kinase like 1 [Gene - HGNC]
  • SRSF5:serine and arginine rich splicing factor 5 [Gene - OMIM - HGNC]
  • SPTLC2:serine palmitoyltransferase long chain base subunit 2 [Gene - OMIM - HGNC]
  • SERPINA10:serpin family A member 10 [Gene - OMIM - HGNC]
  • SERPINA11:serpin family A member 11 [Gene - OMIM - 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]
  • SIPA1L1:signal induced proliferation associated 1 like 1 [Gene - OMIM - HGNC]
  • SNHG10:small nucleolar RNA host gene 10 [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]
  • SNORD114-1:small nucleolar RNA, C/D box 114-1 [Gene - OMIM - HGNC]
  • SLC10A1:solute carrier family 10 member 1 [Gene - OMIM - 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]
  • SLC39A9:solute carrier family 39 member 9 [Gene - OMIM - HGNC]
  • SLC8A3:solute carrier family 8 member A3 [Gene - OMIM - HGNC]
  • SPTB:spectrin beta, erythrocytic [Gene - OMIM - HGNC]
  • SYNE3:spectrin repeat containing nuclear envelope family member 3 [Gene - OMIM - HGNC]
  • SYNE2:spectrin repeat containing nuclear envelope protein 2 [Gene - OMIM - HGNC]
  • SPATA7:spermatogenesis associated 7 [Gene - OMIM - HGNC]
  • SGPP1:sphingosine-1-phosphate phosphatase 1 [Gene - OMIM - HGNC]
  • SAMD15:sterile alpha motif domain containing 15 [Gene - HGNC]
  • STON2:stonin 2 [Gene - OMIM - HGNC]
  • SUSD6:sushi domain containing 6 [Gene - OMIM - HGNC]
  • SYNDIG1L:synapse differentiation inducing 1 like [Gene - OMIM - HGNC]
  • SYNJ2BP:synaptojanin 2 binding protein [Gene - OMIM - HGNC]
  • SYT16:synaptotagmin 16 [Gene - OMIM - HGNC]
  • TRMT61A:tRNA methyltransferase 61A [Gene - HGNC]
  • TC2N:tandem C2 domains, nuclear [Gene - OMIM - HGNC]
  • TECPR2:tectonin beta-propeller repeat containing 2 [Gene - OMIM - HGNC]
  • TEX22:testis expressed 22 [Gene - HGNC]
  • TTC7B:tetratricopeptide repeat domain 7B [Gene - HGNC]
  • TTC8:tetratricopeptide repeat domain 8 [Gene - OMIM - HGNC]
  • TTC9:tetratricopeptide repeat domain 9 [Gene - OMIM - HGNC]
  • TRIP11:thyroid hormone receptor interactor 11 [Gene - OMIM - HGNC]
  • TSHR:thyroid stimulating hormone receptor [Gene - OMIM - HGNC]
  • TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]
  • TMED10:transmembrane p24 trafficking protein 10 [Gene - OMIM - HGNC]
  • TMED8:transmembrane p24 trafficking protein family member 8 [Gene - HGNC]
  • TMEM121:transmembrane protein 121 [Gene - HGNC]
  • TMEM179:transmembrane protein 179 [Gene - HGNC]
  • TMEM229B:transmembrane protein 229B [Gene - OMIM - HGNC]
  • TMEM251:transmembrane protein 251 [Gene - OMIM - HGNC]
  • TMEM63C:transmembrane protein 63C [Gene - HGNC]
  • WARS1:tryptophanyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • TEDC1:tubulin epsilon and delta complex 1 [Gene - HGNC]
  • TTLL5:tubulin tyrosine ligase like 5 [Gene - OMIM - HGNC]
  • TDRD9:tudor domain containing 9 [Gene - OMIM - HGNC]
  • TDP1:tyrosyl-DNA phosphodiesterase 1 [Gene - OMIM - HGNC]
  • UBR7:ubiquitin protein ligase E3 component n-recognin 7 [Gene - OMIM - HGNC]
  • UNC79:unc-79 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
  • VASH1:vasohibin 1 [Gene - OMIM - HGNC]
  • VRTN:vertebrae development associated [Gene - HGNC]
  • VTI1B:vesicle transport through interaction with t-SNAREs 1B [Gene - OMIM - HGNC]
  • VSX2:visual system homeobox 2 [Gene - OMIM - HGNC]
  • ZC2HC1C:zinc finger C2HC-type containing 1C [Gene - HGNC]
  • ZC3H14:zinc finger CCCH-type containing 14 [Gene - OMIM - HGNC]
  • ZDHHC22:zinc finger DHHC-type palmitoyltransferase 22 [Gene - HGNC]
  • ZFYVE1:zinc finger FYVE-type containing 1 [Gene - OMIM - HGNC]
  • ZFYVE21:zinc finger FYVE-type containing 21 [Gene - OMIM - HGNC]
  • ZFYVE26:zinc finger FYVE-type containing 26 [Gene - OMIM - HGNC]
  • ZBTB1:zinc finger and BTB domain containing 1 [Gene - OMIM - HGNC]
  • ZBTB25:zinc finger and BTB domain containing 25 [Gene - OMIM - HGNC]
  • ZBTB42:zinc finger and BTB domain containing 42 [Gene - OMIM - HGNC]
  • ZNF410:zinc finger protein 410 [Gene - OMIM - HGNC]
  • ZNF839:zinc finger protein 839 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q23.2-32.33
Genomic location:
Chr14: 62493932 - 107285437 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3
HGVS:
    Links:
    dbVar: nssv13641956; dbVar: nsv2778741
    Observations:
    1

    Condition(s)

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000502849ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories
    no assertion criteria provided
    		Pathogenicnot providedclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000502849.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Feb 20, 2022