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GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 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:
RCV000743155.2

Allele description

GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3

Genes:
  • HPGD:15-hydroxyprostaglandin dehydrogenase [Gene - OMIM - HGNC]
  • PAPSS1:3'-phosphoadenosine 5'-phosphosulfate synthase 1 [Gene - OMIM - HGNC]
  • BDH2:3-hydroxybutyrate dehydrogenase 2 [Gene - HGNC]
  • ADAM29:ADAM metallopeptidase domain 29 [Gene - OMIM - HGNC]
  • ADAMTS3:ADAM metallopeptidase with thrombospondin type 1 motif 3 [Gene - OMIM - HGNC]
  • ARFIP1:ADP ribosylation factor interacting protein 1 [Gene - OMIM - HGNC]
  • ARL9:ADP ribosylation factor like GTPase 9 [Gene - OMIM - HGNC]
  • ART3:ADP-ribosyltransferase 3 (inactive) [Gene - OMIM - HGNC]
  • AFG2A:AFG2 AAA ATPase homolog A [Gene - OMIM - HGNC]
  • AFF1:ALF transcription elongation factor 1 [Gene - OMIM - HGNC]
  • ANTXR2:ANTXR cell adhesion molecule 2 [Gene - OMIM - HGNC]
  • ABCE1:ATP binding cassette subfamily E member 1 [Gene - OMIM - HGNC]
  • ABCG2:ATP binding cassette subfamily G member 2 (Junior blood group) [Gene - OMIM - HGNC]
  • ATP5ME:ATP synthase membrane subunit e [Gene - OMIM - HGNC]
  • ATP10D:ATPase phospholipid transporting 10D (putative) [Gene - OMIM - HGNC]
  • ATP8A1:ATPase phospholipid transporting 8A1 [Gene - OMIM - HGNC]
  • ARAP2:ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 [Gene - OMIM - HGNC]
  • BANK1:B cell scaffold protein with ankyrin repeats 1 [Gene - OMIM - HGNC]
  • BEND4:BEN domain containing 4 [Gene - HGNC]
  • BMP2K:BMP2 inducible kinase [Gene - OMIM - HGNC]
  • BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]
  • BBS7:Bardet-Biedl syndrome 7 [Gene - OMIM - HGNC]
  • CXCL10:C-X-C motif chemokine ligand 10 [Gene - OMIM - HGNC]
  • CXCL11:C-X-C motif chemokine ligand 11 [Gene - OMIM - HGNC]
  • CXCL13:C-X-C motif chemokine ligand 13 [Gene - OMIM - HGNC]
  • CXCL1:C-X-C motif chemokine ligand 1 [Gene - OMIM - HGNC]
  • CXCL2:C-X-C motif chemokine ligand 2 [Gene - OMIM - HGNC]
  • CXCL3:C-X-C motif chemokine ligand 3 [Gene - OMIM - HGNC]
  • CXCL5:C-X-C motif chemokine ligand 5 [Gene - OMIM - HGNC]
  • CXCL6:C-X-C motif chemokine ligand 6 [Gene - OMIM - HGNC]
  • CXCL8:C-X-C motif chemokine ligand 8 [Gene - OMIM - HGNC]
  • CXCL9:C-X-C motif chemokine ligand 9 [Gene - OMIM - HGNC]
  • CTBP1:C-terminal binding protein 1 [Gene - OMIM - HGNC]
  • C1QTNF7:C1q and TNF related 7 [Gene - HGNC]
  • CNOT6L:CCR4-NOT transcription complex subunit 6 like [Gene - OMIM - HGNC]
  • CD38:CD38 molecule [Gene - OMIM - HGNC]
  • CISD2:CDGSH iron sulfur domain 2 [Gene - OMIM - HGNC]
  • CDKN2AIP:CDKN2A interacting protein [Gene - OMIM - HGNC]
  • CDS1:CDP-diacylglycerol synthase 1 [Gene - OMIM - HGNC]
  • COMMD8:COMM domain containing 8 [Gene - OMIM - HGNC]
  • COPS4:COP9 signalosome subunit 4 [Gene - OMIM - HGNC]
  • CXXC4:CXXC finger protein 4 [Gene - OMIM - HGNC]
  • DCAF16:DDB1 and CUL4 associated factor 16 [Gene - OMIM - HGNC]
  • DCAF4L1:DDB1 and CUL4 associated factor 4 like 1 [Gene - HGNC]
  • DHX15:DEAH-box helicase 15 [Gene - OMIM - HGNC]
  • DDX60L:DExD/H-box 60 like [Gene - OMIM - HGNC]
  • DDX60:DExD/H-box helicase 60 [Gene - OMIM - HGNC]
  • DDIT4L:DNA damage inducible transcript 4 like [Gene - OMIM - HGNC]
  • POLN:DNA polymerase nu [Gene - OMIM - HGNC]
  • DNAJB14:DnaJ heat shock protein family (Hsp40) member B14 [Gene - OMIM - HGNC]
  • ELF2:E74 like ETS transcription factor 2 [Gene - OMIM - HGNC]
  • ELMOD2:ELMO domain containing 2 [Gene - OMIM - HGNC]
  • ELOVL6:ELOVL fatty acid elongase 6 [Gene - OMIM - HGNC]
  • EPHA5:EPH receptor A5 [Gene - OMIM - HGNC]
  • EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
  • EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
  • FBXW7:F-box and WD repeat domain containing 7 [Gene - OMIM - HGNC]
  • FBXL5:F-box and leucine rich repeat protein 5 [Gene - OMIM - HGNC]
  • FBXO8:F-box protein 8 [Gene - OMIM - HGNC]
  • FAM13A-AS1:FAM13A antisense RNA 1 [Gene - OMIM - HGNC]
  • FAM47E-STBD1:FAM47E-STBD1 readthrough [Gene - HGNC]
  • FAT1:FAT atypical cadherin 1 [Gene - OMIM - HGNC]
  • FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
  • FHDC1:FH2 domain containing 1 [Gene - OMIM - HGNC]
  • FHIP1A:FHF complex subunit HOOK interacting protein 1A [Gene - HGNC]
  • FREM3:FRAS1 related extracellular matrix 3 [Gene - OMIM - HGNC]
  • FRYL:FRY like transcription coactivator [Gene - HGNC]
  • FRG1:FSHD region gene 1 [Gene - OMIM - HGNC]
  • FRAS1:Fraser extracellular matrix complex subunit 1 [Gene - OMIM - HGNC]
  • GPR78:G protein-coupled receptor 78 [Gene - OMIM - HGNC]
  • GRK4:G protein-coupled receptor kinase 4 [Gene - OMIM - HGNC]
  • GRSF1:G-rich RNA sequence binding factor 1 [Gene - OMIM - HGNC]
  • G3BP2:G3BP stress granule assembly factor 2 [Gene - OMIM - HGNC]
  • GAR1:GAR1 ribonucleoprotein [Gene - OMIM - HGNC]
  • GC:GC vitamin D binding protein [Gene - OMIM - HGNC]
  • GIMD1:GIMAP family P-loop NTPase domain containing 1 [Gene - HGNC]
  • GPRIN3:GPRIN family member 3 [Gene - OMIM - HGNC]
  • GAB1:GRB2 associated binding protein 1 [Gene - OMIM - HGNC]
  • GSX2:GS homeobox 2 [Gene - OMIM - HGNC]
  • GUF1:GTP binding elongation factor GUF1 [Gene - OMIM - HGNC]
  • GRPEL1:GrpE like 1, mitochondrial [Gene - OMIM - HGNC]
  • H2AZ1:H2A.Z variant histone 1 [Gene - OMIM - HGNC]
  • HMX1:H6 family homeobox 1 [Gene - OMIM - HGNC]
  • HAUS3:HAUS augmin like complex subunit 3 [Gene - OMIM - HGNC]
  • HERC3:HECT and RLD domain containing E3 ubiquitin protein ligase 3 [Gene - OMIM - HGNC]
  • HERC5:HECT and RLD domain containing E3 ubiquitin protein ligase 5 [Gene - OMIM - HGNC]
  • HERC6:HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 [Gene - OMIM - HGNC]
  • HGFAC:HGF activator [Gene - OMIM - HGNC]
  • HOPX:HOP homeobox [Gene - OMIM - HGNC]
  • HTRA3:HtrA serine peptidase 3 [Gene - OMIM - HGNC]
  • KIAA0232:KIAA0232 [Gene - OMIM - HGNC]
  • KIT:KIT proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
  • KLF3:KLF transcription factor 3 [Gene - OMIM - HGNC]
  • LRPAP1:LDL receptor related protein associated protein 1 [Gene - OMIM - HGNC]
  • LIMCH1:LIM and calponin homology domains 1 [Gene - OMIM - HGNC]
  • LDB2:LIM domain binding 2 [Gene - OMIM - HGNC]
  • LRBA:LPS responsive beige-like anchor protein [Gene - OMIM - HGNC]
  • LRP2BP:LRP2 binding protein [Gene - OMIM - HGNC]
  • LSM6:LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • LARP1B:La ribonucleoprotein 1B [Gene - OMIM - HGNC]
  • LARP7:La ribonucleoprotein 7, transcriptional regulator [Gene - OMIM - HGNC]
  • LYAR:Ly1 antibody reactive [Gene - OMIM - HGNC]
  • MXD4:MAX dimerization protein 4 [Gene - OMIM - HGNC]
  • MGAT4D:MGAT4 family member D [Gene - OMIM - HGNC]
  • MOB1B:MOB kinase activator 1B [Gene - OMIM - HGNC]
  • MRFAP1L1:Morf4 family associated protein 1 like 1 [Gene - HGNC]
  • MRFAP1:Morf4 family associated protein 1 [Gene - OMIM - HGNC]
  • MSANTD1:Myb/SANT DNA binding domain containing 1 [Gene - HGNC]
  • NAT8L:N-acetyltransferase 8 like [Gene - OMIM - HGNC]
  • NAAA:N-acylethanolamine acid amidase [Gene - OMIM - HGNC]
  • NAA11:N-alpha-acetyltransferase 11, NatA catalytic subunit [Gene - OMIM - HGNC]
  • NAA15:N-alpha-acetyltransferase 15, NatA auxiliary subunit [Gene - OMIM - HGNC]
  • NDST3:N-deacetylase and N-sulfotransferase 3 [Gene - OMIM - HGNC]
  • NDST4:N-deacetylase and N-sulfotransferase 4 [Gene - OMIM - HGNC]
  • NWD2:NACHT and WD repeat domain containing 2 [Gene - OMIM - HGNC]
  • NDUFC1:NADH:ubiquinone oxidoreductase subunit C1 [Gene - OMIM - HGNC]
  • N4BP2:NEDD4 binding protein 2 [Gene - OMIM - HGNC]
  • NICOL1:NELL2 interacting cell ontogeny regulator 1 [Gene - OMIM - HGNC]
  • NEK1:NIMA related kinase 1 [Gene - OMIM - HGNC]
  • NIPAL1:NIPA like domain containing 1 [Gene - OMIM - HGNC]
  • NKX1-1:NK1 homeobox 1 [Gene - OMIM - HGNC]
  • NKX3-2:NK3 homeobox 2 [Gene - OMIM - HGNC]
  • NKX6-1:NK6 homeobox 1 [Gene - OMIM - HGNC]
  • NOP14:NOP14 nucleolar protein [Gene - OMIM - HGNC]
  • NSUN7:NOP2/Sun RNA methyltransferase family member 7 [Gene - OMIM - HGNC]
  • OCIAD1:OCIA domain containing 1 [Gene - OMIM - HGNC]
  • OCIAD2:OCIA domain containing 2 [Gene - OMIM - HGNC]
  • OTUD4:OTU deubiquitinase 4 [Gene - OMIM - HGNC]
  • PDS5A:PDS5 cohesin associated factor A [Gene - OMIM - HGNC]
  • PDLIM3:PDZ and LIM domain 3 [Gene - OMIM - HGNC]
  • PDLIM5:PDZ and LIM domain 5 [Gene - OMIM - HGNC]
  • PYURF:PIGY upstream open reading frame [Gene - OMIM - HGNC]
  • POU4F2:POU class 4 homeobox 2 [Gene - OMIM - HGNC]
  • PPARGC1A:PPARG coactivator 1 alpha [Gene - OMIM - HGNC]
  • PRDM5:PR/SET domain 5 [Gene - OMIM - HGNC]
  • PRDM8:PR/SET domain 8 [Gene - OMIM - HGNC]
  • RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB33B:RAB33B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RASL11B:RAS like family 11 member B [Gene - OMIM - HGNC]
  • REST:RE1 silencing transcription factor [Gene - OMIM - HGNC]
  • RELL1:RELT like 1 [Gene - OMIM - HGNC]
  • RBM46:RNA binding motif protein 46 [Gene - OMIM - HGNC]
  • RBM47:RNA binding motif protein 47 [Gene - OMIM - HGNC]
  • POLR2B:RNA polymerase II subunit B [Gene - OMIM - HGNC]
  • RUFY3:RUN and FYVE domain containing 3 [Gene - OMIM - HGNC]
  • RWDD4:RWD domain containing 4 [Gene - HGNC]
  • RAPGEF2:Rap guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • RAP1GDS1:Rap1 GTPase-GDP dissociation stimulator 1 [Gene - OMIM - HGNC]
  • RASSF6:Ras association domain family member 6 [Gene - OMIM - HGNC]
  • RASGEF1B:RasGEF domain family member 1B [Gene - OMIM - HGNC]
  • ARHGAP10:Rho GTPase activating protein 10 [Gene - OMIM - HGNC]
  • ARHGAP24:Rho GTPase activating protein 24 [Gene - OMIM - HGNC]
  • ARHGEF38:Rho guanine nucleotide exchange factor 38 [Gene - OMIM - HGNC]
  • S100P:S100 calcium binding protein P [Gene - OMIM - HGNC]
  • SDAD1:SDA1 domain containing 1 [Gene - HGNC]
  • SEC24B:SEC24 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
  • SEC24D:SEC24 homolog D, COPII coat complex component [Gene - OMIM - HGNC]
  • SEC24B-AS1:SEC24B antisense RNA 1 [Gene - HGNC]
  • SEC31A:SEC31 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
  • SEL1L3:SEL1L family member 3 [Gene - OMIM - HGNC]
  • SETD7:SET domain containing 7, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • SH3TC1:SH3 domain and tetratricopeptide repeats 1 [Gene - HGNC]
  • SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]
  • SH3D19:SH3 domain containing 19 [Gene - OMIM - HGNC]
  • SH3RF1:SH3 domain containing ring finger 1 [Gene - OMIM - HGNC]
  • SLAIN2:SLAIN motif family member 2 [Gene - OMIM - HGNC]
  • SMAD1:SMAD family member 1 [Gene - OMIM - HGNC]
  • SPOCK3:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 [Gene - OMIM - HGNC]
  • SPARCL1:SPARC like 1 [Gene - OMIM - HGNC]
  • SMARCA5:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 [Gene - OMIM - HGNC]
  • SMARCAD1:SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [Gene - OMIM - HGNC]
  • SEPSECS:Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase [Gene - OMIM - HGNC]
  • SAP30:Sin3A associated protein 30 [Gene - OMIM - HGNC]
  • TBCK:TBC1 domain containing kinase [Gene - OMIM - HGNC]
  • TBC1D14:TBC1 domain family member 14 [Gene - OMIM - HGNC]
  • TBC1D19:TBC1 domain family member 19 [Gene - HGNC]
  • TBC1D1:TBC1 domain family member 1 [Gene - OMIM - HGNC]
  • TBC1D9:TBC1 domain family member 9 [Gene - OMIM - HGNC]
  • THAP6:THAP domain containing 6 [Gene - OMIM - HGNC]
  • THAP9:THAP domain containing 9 [Gene - OMIM - HGNC]
  • TNIP2:TNFAIP3 interacting protein 2 [Gene - OMIM - HGNC]
  • TNIP3:TNFAIP3 interacting protein 3 [Gene - OMIM - HGNC]
  • TIFA:TRAF interacting protein with forkhead associated domain [Gene - OMIM - HGNC]
  • TXK:TXK tyrosine kinase [Gene - OMIM - HGNC]
  • UGT2A1:UDP glucuronosyltransferase family 2 member A1 complex locus [Gene - OMIM - HGNC]
  • UGT2A2:UDP glucuronosyltransferase family 2 member A2 [Gene - OMIM - HGNC]
  • UGT2A3:UDP glucuronosyltransferase family 2 member A3 [Gene - OMIM - HGNC]
  • UGT2B10:UDP glucuronosyltransferase family 2 member B10 [Gene - OMIM - HGNC]
  • UGT2B11:UDP glucuronosyltransferase family 2 member B11 [Gene - OMIM - HGNC]
  • UGT2B15:UDP glucuronosyltransferase family 2 member B15 [Gene - OMIM - HGNC]
  • UGT2B17:UDP glucuronosyltransferase family 2 member B17 [Gene - OMIM - HGNC]
  • UGT2B28:UDP glucuronosyltransferase family 2 member B28 [Gene - OMIM - HGNC]
  • UGT2B4:UDP glucuronosyltransferase family 2 member B4 [Gene - OMIM - HGNC]
  • UGT2B7:UDP glucuronosyltransferase family 2 member B7 [Gene - OMIM - HGNC]
  • UGT8:UDP glycosyltransferase 8 [Gene - OMIM - HGNC]
  • UGDH:UDP-glucose 6-dehydrogenase [Gene - OMIM - HGNC]
  • UFSP2:UFM1 specific peptidase 2 [Gene - OMIM - HGNC]
  • USO1:USO1 vesicle transport factor [Gene - OMIM - HGNC]
  • UTP3:UTP3 small subunit processome component [Gene - OMIM - HGNC]
  • UVSSA:UV stimulated scaffold protein A [Gene - OMIM - HGNC]
  • WDFY3:WD repeat and FYVE domain containing 3 [Gene - OMIM - HGNC]
  • WDR17:WD repeat domain 17 [Gene - OMIM - HGNC]
  • WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
  • WDR1:WD repeat domain 1 [Gene - OMIM - HGNC]
  • WWC2:WW and C2 domain containing 2 [Gene - OMIM - HGNC]
  • YTHDC1:YTH N6-methyladenosine RNA binding protein C1 [Gene - OMIM - HGNC]
  • YIPF7:Yip1 domain family member 7 [Gene - OMIM - HGNC]
  • ZFP42:ZFP42 zinc finger protein [Gene - OMIM - HGNC]
  • ABHD18:abhydrolase domain containing 18 [Gene - HGNC]
  • ABRAXAS1:abraxas 1, BRCA1 A complex subunit [Gene - OMIM - HGNC]
  • ASIC5:acid sensing ion channel subunit family member 5 [Gene - OMIM - HGNC]
  • ANP32C:acidic nuclear phosphoprotein 32 family member C [Gene - OMIM - HGNC]
  • ABLIM2:actin binding LIM protein family member 2 [Gene - OMIM - HGNC]
  • AFAP1:actin filament associated protein 1 [Gene - OMIM - HGNC]
  • ACOX3:acyl-CoA oxidase 3, pristanoyl [Gene - OMIM - HGNC]
  • ACSL1:acyl-CoA synthetase long chain family member 1 [Gene - OMIM - HGNC]
  • AP1AR:adaptor related protein complex 1 associated regulatory protein [Gene - OMIM - HGNC]
  • ADD1:adducin 1 [Gene - OMIM - HGNC]
  • ADAD1:adenosine deaminase domain containing 1 [Gene - OMIM - HGNC]
  • ADGRA3:adhesion G protein-coupled receptor A3 [Gene - OMIM - HGNC]
  • ADGRL3:adhesion G protein-coupled receptor L3 [Gene - OMIM - HGNC]
  • ADRA2C:adrenoceptor alpha 2C [Gene - OMIM - HGNC]
  • AFM:afamin [Gene - OMIM - HGNC]
  • ALB:albumin [Gene - OMIM - HGNC]
  • ADH1A:alcohol dehydrogenase 1A (class I), alpha polypeptide [Gene - OMIM - HGNC]
  • ADH1B:alcohol dehydrogenase 1B (class I), beta polypeptide [Gene - OMIM - HGNC]
  • ADH1C:alcohol dehydrogenase 1C (class I), gamma polypeptide [Gene - OMIM - HGNC]
  • ADH4:alcohol dehydrogenase 4 (class II), pi polypeptide [Gene - OMIM - HGNC]
  • ADH5:alcohol dehydrogenase 5 (class III), chi polypeptide [Gene - OMIM - HGNC]
  • ADH6:alcohol dehydrogenase 6 (class V) [Gene - OMIM - HGNC]
  • ADH7:alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide [Gene - OMIM - HGNC]
  • AFP:alpha fetoprotein [Gene - OMIM - HGNC]
  • ALPK1:alpha kinase 1 [Gene - OMIM - HGNC]
  • IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
  • AMBN:ameloblastin [Gene - OMIM - HGNC]
  • AMTN:amelotin [Gene - OMIM - HGNC]
  • AIMP1:aminoacyl tRNA synthetase complex interacting multifunctional protein 1 [Gene - OMIM - HGNC]
  • AADAT:aminoadipate aminotransferase [Gene - OMIM - HGNC]
  • AASDH:aminoadipate-semialdehyde dehydrogenase [Gene - OMIM - HGNC]
  • AREG:amphiregulin [Gene - OMIM - HGNC]
  • APBB2:amyloid beta precursor protein binding family B member 2 [Gene - OMIM - HGNC]
  • ANAPC10:anaphase promoting complex subunit 10 [Gene - OMIM - HGNC]
  • ANAPC4:anaphase promoting complex subunit 4 [Gene - OMIM - HGNC]
  • ANK2:ankyrin 2 [Gene - OMIM - HGNC]
  • ASB5:ankyrin repeat and SOCS box containing 5 [Gene - OMIM - HGNC]
  • ANKRD17:ankyrin repeat domain 17 [Gene - OMIM - HGNC]
  • ANKRD37:ankyrin repeat domain 37 [Gene - OMIM - HGNC]
  • ANKRD50:ankyrin repeat domain containing 50 [Gene - OMIM - HGNC]
  • ANXA10:annexin A10 [Gene - OMIM - HGNC]
  • ANXA3:annexin A3 [Gene - OMIM - HGNC]
  • ANXA5:annexin A5 [Gene - OMIM - HGNC]
  • ARSJ:arylsulfatase family member J [Gene - OMIM - HGNC]
  • AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
  • ATOH1:atonal bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • BTC:betacellulin [Gene - OMIM - HGNC]
  • BLOC1S4:biogenesis of lysosomal organelles complex 1 subunit 4 [Gene - OMIM - HGNC]
  • BOD1L1:biorientation of chromosomes in cell division 1 like 1 [Gene - OMIM - HGNC]
  • BST1:bone marrow stromal cell antigen 1 [Gene - OMIM - HGNC]
  • BMP3:bone morphogenetic protein 3 [Gene - OMIM - HGNC]
  • BMPR1B:bone morphogenetic protein receptor type 1B [Gene - OMIM - HGNC]
  • BLTP1:bridge-like lipid transfer protein family member 1 [Gene - OMIM - HGNC]
  • CABS1:calcium binding protein, spermatid associated 1 [Gene - OMIM - HGNC]
  • CAMK2D:calcium/calmodulin dependent protein kinase II delta [Gene - OMIM - HGNC]
  • CLGN:calmegin [Gene - OMIM - HGNC]
  • CRACD:capping protein inhibiting regulator of actin dynamics [Gene - OMIM - HGNC]
  • CBR4:carbonyl reductase 4 [Gene - OMIM - HGNC]
  • CPE:carboxypeptidase E [Gene - OMIM - HGNC]
  • CPZ:carboxypeptidase Z [Gene - OMIM - HGNC]
  • CSN1S1:casein alpha s1 [Gene - OMIM - HGNC]
  • CSN2:casein beta [Gene - OMIM - HGNC]
  • CSN3:casein kappa [Gene - OMIM - HGNC]
  • CASP3:caspase 3 [Gene - OMIM - HGNC]
  • CASP6:caspase 6 [Gene - OMIM - HGNC]
  • CTSO:cathepsin O [Gene - OMIM - HGNC]
  • CWH43:cell wall biogenesis 43 C-terminal homolog [Gene - OMIM - HGNC]
  • CENPC:centromere protein C [Gene - OMIM - HGNC]
  • CENPE:centromere protein E [Gene - OMIM - HGNC]
  • CENPU:centromere protein U [Gene - OMIM - HGNC]
  • CEP135:centrosomal protein 135 [Gene - OMIM - HGNC]
  • CEP44:centrosomal protein 44 [Gene - OMIM - HGNC]
  • CLCN3:chloride voltage-gated channel 3 [Gene - OMIM - HGNC]
  • CCKAR:cholecystokinin A receptor [Gene - OMIM - HGNC]
  • CHRNA9:cholinergic receptor nicotinic alpha 9 subunit [Gene - OMIM - HGNC]
  • C4orf17:chromosome 4 open reading frame 17 [Gene - HGNC]
  • C4orf19:chromosome 4 open reading frame 19 [Gene - HGNC]
  • C4orf33:chromosome 4 open reading frame 33 [Gene - HGNC]
  • C4orf36:chromosome 4 open reading frame 36 [Gene - HGNC]
  • C4orf3:chromosome 4 open reading frame 3 [Gene - OMIM - HGNC]
  • C4orf46:chromosome 4 open reading frame 46 [Gene - OMIM - HGNC]
  • C4orf50:chromosome 4 open reading frame 50 [Gene - HGNC]
  • C4orf51:chromosome 4 open reading frame 51 [Gene - HGNC]
  • CFAP299:cilia and flagella associated protein 299 [Gene - HGNC]
  • CFAP96:cilia and flagella associated protein 96 [Gene - HGNC]
  • CFAP97:cilia and flagella associated protein 97 [Gene - OMIM - HGNC]
  • CLRN2:clarin 2 [Gene - OMIM - HGNC]
  • CLDN22:claudin 22 [Gene - HGNC]
  • CLDN24:claudin 24 [Gene - HGNC]
  • CLOCK:clock circadian regulator [Gene - OMIM - HGNC]
  • F11:coagulation factor XI [Gene - OMIM - HGNC]
  • COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]
  • CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
  • CCDC110:coiled-coil domain containing 110 [Gene - OMIM - HGNC]
  • CCDC149:coiled-coil domain containing 149 [Gene - HGNC]
  • CCDC158:coiled-coil domain containing 158 [Gene - HGNC]
  • CCDC96:coiled-coil domain containing 96 [Gene - OMIM - HGNC]
  • CCSER1:coiled-coil serine rich protein 1 [Gene - OMIM - HGNC]
  • COL25A1:collagen type XXV alpha 1 chain [Gene - OMIM - HGNC]
  • CRMP1:collapsin response mediator protein 1 [Gene - OMIM - HGNC]
  • CFI:complement factor I [Gene - OMIM - HGNC]
  • CPLX1:complexin 1 [Gene - OMIM - HGNC]
  • CORIN:corin, serine peptidase [Gene - OMIM - HGNC]
  • CNGA1:cyclic nucleotide gated channel subunit alpha 1 [Gene - OMIM - HGNC]
  • CCNA2:cyclin A2 [Gene - OMIM - HGNC]
  • GAK:cyclin G associated kinase [Gene - OMIM - HGNC]
  • CCNG2:cyclin G2 [Gene - OMIM - HGNC]
  • CCNI:cyclin I [Gene - OMIM - HGNC]
  • CDKL2:cyclin dependent kinase like 2 [Gene - OMIM - HGNC]
  • CRIPAK:cysteine rich PAK1 inhibitor [Gene - OMIM - HGNC]
  • CHIC2:cysteine rich hydrophobic domain 2 [Gene - OMIM - HGNC]
  • CYP2U1:cytochrome P450 family 2 subfamily U member 1 [Gene - OMIM - HGNC]
  • CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]
  • COX18:cytochrome c oxidase assembly factor COX18 [Gene - OMIM - HGNC]
  • COX7B2:cytochrome c oxidase subunit 7B2 [Gene - OMIM - HGNC]
  • CLNK:cytokine dependent hematopoietic cell linker [Gene - OMIM - HGNC]
  • CYTL1:cytokine like 1 [Gene - OMIM - HGNC]
  • CPEB2:cytoplasmic polyadenylation element binding protein 2 [Gene - OMIM - HGNC]
  • DCTD:dCMP deaminase [Gene - OMIM - HGNC]
  • DCHS2:dachsous cadherin-related 2 [Gene - OMIM - HGNC]
  • DTHD1:death domain containing 1 [Gene - OMIM - HGNC]
  • DCUN1D4:defective in cullin neddylation 1 domain containing 4 [Gene - OMIM - HGNC]
  • DEFB131A:defensin beta 131A [Gene - HGNC]
  • DMP1:dentin matrix acidic phosphoprotein 1 [Gene - OMIM - HGNC]
  • DSPP:dentin sialophosphoprotein [Gene - OMIM - HGNC]
  • DCK:deoxycytidine kinase [Gene - OMIM - HGNC]
  • DGKQ:diacylglycerol kinase theta [Gene - OMIM - HGNC]
  • DKK2:dickkopf WNT signaling pathway inhibitor 2 [Gene - OMIM - HGNC]
  • DANCR:differentiation antagonizing non-protein coding RNA [Gene - OMIM - HGNC]
  • DOK7:docking protein 7 [Gene - OMIM - HGNC]
  • DRD5:dopamine receptor D5 [Gene - OMIM - HGNC]
  • DCLK2:doublecortin like kinase 2 [Gene - OMIM - HGNC]
  • DAPP1:dual adaptor of phosphotyrosine and 3-phosphoinositides 1 [Gene - OMIM - HGNC]
  • ENPP6:ectonucleotide pyrophosphatase/phosphodiesterase 6 [Gene - OMIM - HGNC]
  • ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
  • ENAM:enamelin [Gene - OMIM - HGNC]
  • ERVMER34-1:endogenous retrovirus group MER34 member 1, envelope [Gene - HGNC]
  • EMCN:endomucin [Gene - OMIM - HGNC]
  • EDNRA:endothelin receptor type A [Gene - OMIM - HGNC]
  • ENOPH1:enolase-phosphatase 1 [Gene - HGNC]
  • EGF:epidermal growth factor [Gene - OMIM - HGNC]
  • EREG:epiregulin [Gene - OMIM - HGNC]
  • EPGN:epithelial mitogen [Gene - OMIM - HGNC]
  • ETNPPL:ethanolamine-phosphate phospho-lyase [Gene - OMIM - HGNC]
  • EIF4E:eukaryotic translation initiation factor 4E [Gene - OMIM - HGNC]
  • EXOC1:exocyst complex component 1 [Gene - OMIM - HGNC]
  • EXOSC9:exosome component 9 [Gene - OMIM - HGNC]
  • FIP1L1:factor interacting with PAPOLA and CPSF1 [Gene - OMIM - HGNC]
  • FAM114A1:family with sequence similarity 114 member A1 [Gene - HGNC]
  • FAM13A:family with sequence similarity 13 member A [Gene - OMIM - HGNC]
  • FAM149A:family with sequence similarity 149 member A [Gene - HGNC]
  • FAM184B:family with sequence similarity 184 member B [Gene - OMIM - HGNC]
  • FAM193A:family with sequence similarity 193 member A [Gene - OMIM - HGNC]
  • FAM200B:family with sequence similarity 200 member B [Gene - HGNC]
  • FAM218A:family with sequence similarity 218 member A [Gene - HGNC]
  • FAM241A:family with sequence similarity 241 member A [Gene - HGNC]
  • FAM47E:family with sequence similarity 47 member E [Gene - HGNC]
  • FAM53A:family with sequence similarity 53 member A [Gene - OMIM - HGNC]
  • FABP2:fatty acid binding protein 2 [Gene - OMIM - HGNC]
  • FGA:fibrinogen alpha chain [Gene - OMIM - HGNC]
  • FGB:fibrinogen beta chain [Gene - OMIM - HGNC]
  • FGG:fibrinogen gamma chain [Gene - OMIM - HGNC]
  • FGF2:fibroblast growth factor 2 [Gene - OMIM - HGNC]
  • FGF5:fibroblast growth factor 5 [Gene - OMIM - HGNC]
  • FGFBP1:fibroblast growth factor binding protein 1 [Gene - OMIM - HGNC]
  • FGFBP2:fibroblast growth factor binding protein 2 [Gene - OMIM - HGNC]
  • FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
  • FGFRL1:fibroblast growth factor receptor like 1 [Gene - OMIM - HGNC]
  • FDCSP:follicular dendritic cell secreted protein [Gene - OMIM - HGNC]
  • FNIP2:folliculin interacting protein 2 [Gene - OMIM - HGNC]
  • FSTL5:follistatin like 5 [Gene - OMIM - HGNC]
  • GABRA2:gamma-aminobutyric acid type A receptor subunit alpha2 [Gene - OMIM - HGNC]
  • GABRA4:gamma-aminobutyric acid type A receptor subunit alpha4 [Gene - OMIM - HGNC]
  • GABRB1:gamma-aminobutyric acid type A receptor subunit beta1 [Gene - OMIM - HGNC]
  • GABRG1:gamma-aminobutyric acid type A receptor subunit gamma1 [Gene - OMIM - HGNC]
  • GNPDA2:glucosamine-6-phosphate deaminase 2 [Gene - OMIM - HGNC]
  • GBA3:glucosylceramidase beta 3 (gene/pseudogene) [Gene - OMIM - HGNC]
  • GRIA2:glutamate ionotropic receptor AMPA type subunit 2 [Gene - OMIM - HGNC]
  • GRID2:glutamate ionotropic receptor delta type subunit 2 [Gene - OMIM - HGNC]
  • ENPEP:glutamyl aminopeptidase [Gene - OMIM - HGNC]
  • GATB:glutamyl-tRNA amidotransferase subunit B [Gene - OMIM - HGNC]
  • GRXCR1:glutaredoxin and cysteine rich domain containing 1 [Gene - OMIM - HGNC]
  • GSTCD:glutathione S-transferase C-terminal domain containing [Gene - OMIM - HGNC]
  • GK2:glycerol kinase 2 [Gene - OMIM - HGNC]
  • GPAT3:glycerol-3-phosphate acyltransferase 3 [Gene - OMIM - HGNC]
  • GLRA3:glycine receptor alpha 3 [Gene - OMIM - HGNC]
  • GLRB:glycine receptor beta [Gene - OMIM - HGNC]
  • GYPA:glycophorin A (MNS blood group) [Gene - OMIM - HGNC]
  • GYPB:glycophorin B (MNS blood group) [Gene - OMIM - HGNC]
  • GYPE:glycophorin E (MNS blood group) [Gene - OMIM - HGNC]
  • GPM6A:glycoprotein M6A [Gene - OMIM - HGNC]
  • GASK1B:golgi associated kinase 1B [Gene - HGNC]
  • GNRHR:gonadotropin releasing hormone receptor [Gene - OMIM - HGNC]
  • GUCY1A1:guanylate cyclase 1 soluble subunit alpha 1 [Gene - OMIM - HGNC]
  • GUCY1B1:guanylate cyclase 1 soluble subunit beta 1 [Gene - OMIM - HGNC]
  • HAND2:heart and neural crest derivatives expressed 2 [Gene - OMIM - HGNC]
  • HSPA4L:heat shock protein family A (Hsp70) member 4 like [Gene - OMIM - HGNC]
  • HHIP:hedgehog interacting protein [Gene - OMIM - HGNC]
  • HELQ:helicase, POLQ like [Gene - OMIM - HGNC]
  • HELT:helt bHLH transcription factor [Gene - OMIM - HGNC]
  • HPGDS:hematopoietic prostaglandin D synthase [Gene - OMIM - HGNC]
  • HS3ST1:heparan sulfate-glucosamine 3-sulfotransferase 1 [Gene - OMIM - HGNC]
  • HPSE:heparanase [Gene - OMIM - HGNC]
  • HNRNPDL:heterogeneous nuclear ribonucleoprotein D like [Gene - OMIM - HGNC]
  • HNRNPD:heterogeneous nuclear ribonucleoprotein D [Gene - OMIM - HGNC]
  • HMGB2:high mobility group box 2 [Gene - OMIM - HGNC]
  • HTN1:histatin 1 [Gene - OMIM - HGNC]
  • HTN3:histatin 3 [Gene - OMIM - HGNC]
  • HPF1:histone PARylation factor 1 [Gene - OMIM - HGNC]
  • HTT:huntingtin [Gene - OMIM - HGNC]
  • HADH:hydroxyacyl-CoA dehydrogenase [Gene - OMIM - HGNC]
  • HSD17B11:hydroxysteroid 17-beta dehydrogenase 11 [Gene - OMIM - HGNC]
  • HSD17B13:hydroxysteroid 17-beta dehydrogenase 13 [Gene - OMIM - HGNC]
  • ING2:inhibitor of growth family member 2 [Gene - OMIM - HGNC]
  • PPA2:inorganic pyrophosphatase 2 [Gene - OMIM - HGNC]
  • INPP4B:inositol polyphosphate-4-phosphatase type II B [Gene - OMIM - HGNC]
  • IGFBP7:insulin like growth factor binding protein 7 [Gene - OMIM - HGNC]
  • INTS12:integrator complex subunit 12 [Gene - OMIM - HGNC]
  • IBSP:integrin binding sialoprotein [Gene - OMIM - HGNC]
  • IRF2:interferon regulatory factor 2 [Gene - OMIM - HGNC]
  • IL15:interleukin 15 [Gene - OMIM - HGNC]
  • IL21:interleukin 21 [Gene - OMIM - HGNC]
  • IL2:interleukin 2 [Gene - OMIM - HGNC]
  • INTU:inturned planar cell polarity protein [Gene - OMIM - HGNC]
  • JADE1:jade family PHD finger 1 [Gene - OMIM - HGNC]
  • JAKMIP1:janus kinase and microtubule interacting protein 1 [Gene - OMIM - HGNC]
  • JCHAIN:joining chain of multimeric IgA and IgM [Gene - OMIM - HGNC]
  • KLKB1:kallikrein B1 [Gene - OMIM - HGNC]
  • KLHL2:kelch like family member 2 [Gene - OMIM - HGNC]
  • KLHL5:kelch like family member 5 [Gene - OMIM - HGNC]
  • KLHL8:kelch like family member 8 [Gene - OMIM - HGNC]
  • KDR:kinase insert domain receptor [Gene - OMIM - HGNC]
  • KLB:klotho beta [Gene - OMIM - HGNC]
  • LAMTOR3:late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 [Gene - OMIM - HGNC]
  • LRAT:lecithin retinol acyltransferase [Gene - OMIM - HGNC]
  • LAP3:leucine aminopeptidase 3 [Gene - OMIM - HGNC]
  • LGI2:leucine rich repeat LGI family member 2 [Gene - OMIM - HGNC]
  • LRRC66:leucine rich repeat containing 66 [Gene - HGNC]
  • LRIT3:leucine rich repeat, Ig-like and transmembrane domains 3 [Gene - OMIM - HGNC]
  • LETM1:leucine zipper and EF-hand containing transmembrane protein 1 [Gene - OMIM - HGNC]
  • LCORL:ligand dependent nuclear receptor corepressor like [Gene - OMIM - HGNC]
  • LNX1:ligand of numb-protein X 1 [Gene - OMIM - HGNC]
  • LIN54:lin-54 DREAM MuvB core complex component [Gene - OMIM - HGNC]
  • LIAS:lipoic acid synthetase [Gene - OMIM - HGNC]
  • LINC01587:long intergenic non-protein coding RNA 1587 [Gene - HGNC]
  • LEF1:lymphoid enhancer binding factor 1 [Gene - OMIM - HGNC]
  • MAB21L2:mab-21 like 2 [Gene - OMIM - HGNC]
  • MAEA:macrophage erythroblast attacher, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • MFSD10:major facilitator superfamily domain containing 10 [Gene - OMIM - HGNC]
  • MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
  • MAN2B2:mannosidase alpha class 2B member 2 [Gene - OMIM - HGNC]
  • MANBA:mannosidase beta [Gene - OMIM - HGNC]
  • MAML3:mastermind like transcriptional coactivator 3 [Gene - OMIM - HGNC]
  • MEPE:matrix extracellular phosphoglycoprotein [Gene - OMIM - HGNC]
  • MED28:mediator complex subunit 28 [Gene - OMIM - HGNC]
  • MND1:meiotic nuclear divisions 1 [Gene - OMIM - HGNC]
  • MTNR1A:melatonin receptor 1A [Gene - OMIM - HGNC]
  • MARCHF1:membrane associated ring-CH-type finger 1 [Gene - OMIM - HGNC]
  • MMAA:metabolism of cobalamin associated A [Gene - OMIM - HGNC]
  • METAP1:methionyl aminopeptidase 1 [Gene - OMIM - HGNC]
  • MTHFD2L:methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like [Gene - OMIM - HGNC]
  • MSMO1:methylsterol monooxygenase 1 [Gene - OMIM - HGNC]
  • METTL14:methyltransferase 14, N6-adenosine-methyltransferase subunit [Gene - OMIM - HGNC]
  • MIR302A:microRNA 302a [Gene - OMIM - HGNC]
  • MIR302B:microRNA 302b [Gene - OMIM - HGNC]
  • MIR302C:microRNA 302c [Gene - OMIM - HGNC]
  • MIR302D:microRNA 302d [Gene - OMIM - HGNC]
  • MIR367:microRNA 367 [Gene - OMIM - HGNC]
  • MIR4449:microRNA 4449 [Gene - OMIM - HGNC]
  • MIR95:microRNA 95 [Gene - OMIM - HGNC]
  • MFAP3L:microfibril associated protein 3 like [Gene - OMIM - HGNC]
  • MGST2:microsomal glutathione S-transferase 2 [Gene - OMIM - HGNC]
  • MTTP:microsomal triglyceride transfer protein [Gene - OMIM - HGNC]
  • MAP9:microtubule associated protein 9 [Gene - OMIM - HGNC]
  • MGARP:mitochondria localized glutamic acid rich protein [Gene - OMIM - HGNC]
  • MCUB:mitochondrial calcium uniporter dominant negative subunit beta [Gene - HGNC]
  • MRPL1:mitochondrial ribosomal protein L1 [Gene - OMIM - HGNC]
  • MRPS18C:mitochondrial ribosomal protein S18C [Gene - OMIM - HGNC]
  • MAPK10:mitogen-activated protein kinase 10 [Gene - OMIM - HGNC]
  • MAD2L1:mitotic arrest deficient 2 like 1 [Gene - OMIM - HGNC]
  • MSX1:msh homeobox 1 [Gene - OMIM - HGNC]
  • MUC7:mucin 7, secreted [Gene - OMIM - HGNC]
  • MMRN1:multimerin 1 [Gene - OMIM - HGNC]
  • MYL5:myosin light chain 5 [Gene - OMIM - HGNC]
  • MYOZ2:myozenin 2 [Gene - OMIM - HGNC]
  • NELFA:negative elongation factor complex member A [Gene - OMIM - HGNC]
  • NEIL3:nei like DNA glycosylase 3 [Gene - OMIM - HGNC]
  • NPNT:nephronectin [Gene - OMIM - HGNC]
  • NEUROG2:neurogenin 2 [Gene - OMIM - HGNC]
  • NMU:neuromedin U [Gene - OMIM - HGNC]
  • NDNF:neuron derived neurotrophic factor [Gene - OMIM - HGNC]
  • NSG1:neuronal vesicle trafficking associated 1 [Gene - OMIM - HGNC]
  • NPFFR2:neuropeptide FF receptor 2 [Gene - OMIM - HGNC]
  • NPY1R:neuropeptide Y receptor Y1 [Gene - OMIM - HGNC]
  • NPY2R:neuropeptide Y receptor Y2 [Gene - OMIM - HGNC]
  • NPY5R:neuropeptide Y receptor Y5 [Gene - OMIM - HGNC]
  • NOA1:nitric oxide associated 1 [Gene - OMIM - HGNC]
  • NOCT:nocturnin [Gene - OMIM - HGNC]
  • NCAPG:non-SMC condensin I complex subunit G [Gene - OMIM - HGNC]
  • NAF1:nuclear assembly factor 1 ribonucleoprotein [Gene - OMIM - HGNC]
  • NFKB1:nuclear factor kappa B subunit 1 [Gene - OMIM - HGNC]
  • NSD2:nuclear receptor binding SET domain protein 2 [Gene - OMIM - HGNC]
  • NR3C2:nuclear receptor subfamily 3 group C member 2 [Gene - OMIM - HGNC]
  • NFXL1:nuclear transcription factor, X-box binding like 1 [Gene - OMIM - HGNC]
  • NUP54:nucleoporin 54 [Gene - OMIM - HGNC]
  • NAP1L5:nucleosome assembly protein 1 like 5 [Gene - OMIM - HGNC]
  • NUDT6:nudix hydrolase 6 [Gene - OMIM - HGNC]
  • NUDT9:nudix hydrolase 9 [Gene - OMIM - HGNC]
  • ODAPH:odontogenesis associated phosphoprotein [Gene - OMIM - HGNC]
  • ODAM:odontogenic, ameloblast associated [Gene - OMIM - HGNC]
  • OSTC:oligosaccharyltransferase complex non-catalytic subunit [Gene - OMIM - HGNC]
  • OPRPN:opiorphin prepropeptide [Gene - OMIM - HGNC]
  • OTOP1:otopetrin 1 [Gene - OMIM - HGNC]
  • PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]
  • PITX2:paired like homeodomain 2 [Gene - OMIM - HGNC]
  • PALLD:palladin, cytoskeletal associated protein [Gene - OMIM - HGNC]
  • PACRGL:parkin coregulated like [Gene - HGNC]
  • PPID:peptidylprolyl isomerase D [Gene - OMIM - HGNC]
  • PDCL2:phosducin like 2 [Gene - OMIM - HGNC]
  • PI4K2B:phosphatidylinositol 4-kinase type 2 beta [Gene - OMIM - HGNC]
  • PIGG:phosphatidylinositol glycan anchor biosynthesis class G [Gene - OMIM - HGNC]
  • PIGY:phosphatidylinositol glycan anchor biosynthesis class Y [Gene - OMIM - HGNC]
  • PDE5A:phosphodiesterase 5A [Gene - OMIM - HGNC]
  • PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
  • PGM2:phosphoglucomutase 2 [Gene - OMIM - HGNC]
  • PLA2G12A:phospholipase A2 group XIIA [Gene - OMIM - HGNC]
  • PPAT:phosphoribosyl pyrophosphate amidotransferase [Gene - OMIM - HGNC]
  • PAICS:phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase [Gene - OMIM - HGNC]
  • PTTG2:pituitary tumor-transforming 2 [Gene - OMIM - HGNC]
  • PLAC8:placenta associated 8 [Gene - OMIM - HGNC]
  • PDGFC:platelet derived growth factor C [Gene - OMIM - HGNC]
  • PDGFRA:platelet derived growth factor receptor alpha [Gene - OMIM - HGNC]
  • PF4V1:platelet factor 4 variant 1 [Gene - OMIM - HGNC]
  • PF4:platelet factor 4 [Gene - OMIM - HGNC]
  • PLRG1:pleiotropic regulator 1 [Gene - OMIM - HGNC]
  • PLK4:polo like kinase 4 [Gene - OMIM - HGNC]
  • PABPC4L:poly(A) binding protein cytoplasmic 4 like [Gene - HGNC]
  • PCGF3:polycomb group ring finger 3 [Gene - OMIM - HGNC]
  • PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
  • GALNT7:polypeptide N-acetylgalactosaminyltransferase 7 [Gene - OMIM - HGNC]
  • GALNTL6:polypeptide N-acetylgalactosaminyltransferase like 6 [Gene - OMIM - HGNC]
  • KCTD8:potassium channel tetramerization domain containing 8 [Gene - OMIM - HGNC]
  • KCNIP4:potassium voltage-gated channel interacting protein 4 [Gene - OMIM - HGNC]
  • PRIMPOL:primase and DNA directed polymerase [Gene - OMIM - HGNC]
  • PPBP:pro-platelet basic protein [Gene - OMIM - HGNC]
  • PGRMC2:progesterone receptor membrane component 2 [Gene - OMIM - HGNC]
  • PAQR3:progestin and adipoQ receptor family member 3 [Gene - OMIM - HGNC]
  • PRR27:proline rich 27 [Gene - HGNC]
  • PROM1:prominin 1 [Gene - OMIM - HGNC]
  • PSAPL1:prosaposin like 1 [Gene - HGNC]
  • PARM1:prostate androgen-regulated mucin-like protein 1 [Gene - OMIM - HGNC]
  • PCAT4:prostate cancer associated transcript 4 [Gene - OMIM - HGNC]
  • PRMT9:protein arginine methyltransferase 9 [Gene - OMIM - HGNC]
  • PRKG2:protein kinase cGMP-dependent 2 [Gene - OMIM - HGNC]
  • PPP2R2C:protein phosphatase 2 regulatory subunit Bgamma [Gene - OMIM - HGNC]
  • PPP3CA:protein phosphatase 3 catalytic subunit alpha [Gene - OMIM - HGNC]
  • PPEF2:protein phosphatase with EF-hand domain 2 [Gene - OMIM - HGNC]
  • PPM1K:protein phosphatase, Mg2+/Mn2+ dependent 1K [Gene - OMIM - HGNC]
  • PTPN13:protein tyrosine phosphatase non-receptor type 13 [Gene - OMIM - HGNC]
  • PCDH10:protocadherin 10 [Gene - OMIM - HGNC]
  • PCDH18:protocadherin 18 [Gene - OMIM - HGNC]
  • PCDH7:protocadherin 7 [Gene - OMIM - HGNC]
  • QRFPR:pyroglutamylated RFamide peptide receptor [Gene - OMIM - HGNC]
  • PDHA2:pyruvate dehydrogenase E1 subunit alpha 2 [Gene - OMIM - HGNC]
  • QDPR:quinoid dihydropteridine reductase [Gene - OMIM - HGNC]
  • RHOH:ras homolog family member H [Gene - OMIM - HGNC]
  • RBPJ:recombination signal binding protein for immunoglobulin kappa J region [Gene - OMIM - HGNC]
  • RGS12:regulator of G protein signaling 12 [Gene - OMIM - HGNC]
  • RXFP1:relaxin family peptide receptor 1 [Gene - OMIM - HGNC]
  • RFC1:replication factor C subunit 1 [Gene - OMIM - HGNC]
  • RRH:retinal pigment epithelium-derived rhodopsin homolog [Gene - OMIM - HGNC]
  • RPL34:ribosomal protein L34 [Gene - OMIM - HGNC]
  • RPL9:ribosomal protein L9 [Gene - OMIM - HGNC]
  • RPS3A:ribosomal protein S3A [Gene - OMIM - HGNC]
  • RCHY1:ring finger and CHY zinc finger domain containing 1 [Gene - OMIM - HGNC]
  • RNF150:ring finger protein 150 [Gene - HGNC]
  • RNF175:ring finger protein 175 [Gene - HGNC]
  • RNF212:ring finger protein 212 [Gene - OMIM - HGNC]
  • RNF4:ring finger protein 4 [Gene - OMIM - HGNC]
  • SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
  • SCARB2:scavenger receptor class B member 2 [Gene - OMIM - HGNC]
  • SCFD2:sec1 family domain containing 2 [Gene - HGNC]
  • SFRP2:secreted frizzled related protein 2 [Gene - OMIM - HGNC]
  • SPP1:secreted phosphoprotein 1 [Gene - OMIM - HGNC]
  • SEPTIN11:septin 11 [Gene - OMIM - HGNC]
  • SPINK2:serine peptidase inhibitor Kazal type 2 [Gene - OMIM - HGNC]
  • PRSS12:serine protease 12 [Gene - OMIM - HGNC]
  • PRSS48:serine protease 48 [Gene - HGNC]
  • STK32B:serine/threonine kinase 32B [Gene - HGNC]
  • SHISA3:shisa family member 3 [Gene - OMIM - HGNC]
  • SCOC:short coiled-coil protein [Gene - HGNC]
  • SHROOM3:shroom family member 3 [Gene - OMIM - HGNC]
  • SPCS3:signal peptidase complex subunit 3 [Gene - OMIM - HGNC]
  • SRP72:signal recognition particle 72 [Gene - OMIM - HGNC]
  • STAP1:signal transducing adaptor family member 1 [Gene - OMIM - HGNC]
  • SLIT2:slit guidance ligand 2 [Gene - OMIM - HGNC]
  • SMIM14:small integral membrane protein 14 [Gene - HGNC]
  • SMIM20:small integral membrane protein 20 [Gene - OMIM - HGNC]
  • SMIM43:small integral membrane protein 43 [Gene - HGNC]
  • SNHG8:small nucleolar RNA host gene 8 [Gene - HGNC]
  • SNORD73A:small nucleolar RNA, C/D box 73A [Gene - OMIM - HGNC]
  • SNORA26:small nucleolar RNA, H/ACA box 26 [Gene - OMIM - HGNC]
  • SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
  • SLC10A4:solute carrier family 10 member 4 [Gene - OMIM - HGNC]
  • SLC10A6:solute carrier family 10 member 6 [Gene - OMIM - HGNC]
  • SLC10A7:solute carrier family 10 member 7 [Gene - OMIM - HGNC]
  • SLC2A9:solute carrier family 2 member 9 [Gene - OMIM - HGNC]
  • SLC25A31:solute carrier family 25 member 31 [Gene - OMIM - HGNC]
  • SLC25A4:solute carrier family 25 member 4 [Gene - OMIM - HGNC]
  • SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]
  • SLC30A9:solute carrier family 30 member 9 [Gene - OMIM - HGNC]
  • SLC34A2:solute carrier family 34 member 2 [Gene - OMIM - HGNC]
  • SLC39A8:solute carrier family 39 member 8 [Gene - OMIM - HGNC]
  • SLC4A4:solute carrier family 4 member 4 [Gene - OMIM - HGNC]
  • SLC49A3:solute carrier family 49 member 3 [Gene - OMIM - HGNC]
  • SLC7A11:solute carrier family 7 member 11 [Gene - OMIM - HGNC]
  • SLC9B1:solute carrier family 9 member B1 [Gene - OMIM - HGNC]
  • SLC9B2:solute carrier family 9 member B2 [Gene - OMIM - HGNC]
  • SORBS2:sorbin and SH3 domain containing 2 [Gene - OMIM - HGNC]
  • SORCS2:sortilin related VPS10 domain containing receptor 2 [Gene - OMIM - HGNC]
  • SNX25:sorting nexin 25 [Gene - HGNC]
  • SOWAHB:sosondowah ankyrin repeat domain family member B [Gene - HGNC]
  • SPMAP2L:sperm microtubule associated protein 2 like [Gene - HGNC]
  • SPMIP2:sperm microtubule inner protein 2 [Gene - HGNC]
  • STPG2:sperm tail PG-rich repeat containing 2 [Gene - HGNC]
  • SPATA18:spermatogenesis associated 18 [Gene - OMIM - HGNC]
  • SPATA4:spermatogenesis associated 4 [Gene - OMIM - HGNC]
  • SGMS2:sphingomyelin synthase 2 [Gene - OMIM - HGNC]
  • SPON2:spondin 2 [Gene - OMIM - HGNC]
  • SPRY1:sprouty RTK signaling antagonist 1 [Gene - OMIM - HGNC]
  • STBD1:starch binding domain 1 [Gene - OMIM - HGNC]
  • STATH:statherin [Gene - OMIM - HGNC]
  • SCD5:stearoyl-CoA desaturase 5 [Gene - OMIM - HGNC]
  • SLBP:stem-loop histone mRNA binding protein [Gene - OMIM - HGNC]
  • SRD5A3:steroid 5 alpha-reductase 3 [Gene - OMIM - HGNC]
  • SCRG1:stimulator of chondrogenesis 1 [Gene - OMIM - HGNC]
  • STOX2:storkhead box 2 [Gene - OMIM - HGNC]
  • STIM2:stromal interaction molecule 2 [Gene - OMIM - HGNC]
  • SMR3A:submaxillary gland androgen regulated protein 3A [Gene - OMIM - HGNC]
  • SMR3B:submaxillary gland androgen regulated protein 3B [Gene - OMIM - HGNC]
  • SULT1B1:sulfotransferase family 1B member 1 [Gene - OMIM - HGNC]
  • SULT1E1:sulfotransferase family 1E member 1 [Gene - OMIM - HGNC]
  • SOD3:superoxide dismutase 3 [Gene - OMIM - HGNC]
  • SYNPO2:synaptopodin 2 [Gene - HGNC]
  • STX18:syntaxin 18 [Gene - OMIM - HGNC]
  • SNCA:synuclein alpha [Gene - OMIM - HGNC]
  • TRMT10A:tRNA methyltransferase 10A [Gene - OMIM - HGNC]
  • TRMT44:tRNA methyltransferase 44 homolog [Gene - OMIM - HGNC]
  • TACR3:tachykinin receptor 3 [Gene - OMIM - HGNC]
  • TEC:tec protein tyrosine kinase [Gene - OMIM - HGNC]
  • TENM3:teneurin transmembrane protein 3 [Gene - OMIM - HGNC]
  • TET2:tet methylcytosine dioxygenase 2 [Gene - OMIM - HGNC]
  • TSPAN5:tetraspanin 5 [Gene - OMIM - HGNC]
  • TTC29:tetratricopeptide repeat domain 29 [Gene - OMIM - HGNC]
  • TIGD2:tigger transposable element derived 2 [Gene - OMIM - HGNC]
  • TIGD4:tigger transposable element derived 4 [Gene - HGNC]
  • TLR10:toll like receptor 10 [Gene - OMIM - HGNC]
  • TLR1:toll like receptor 1 [Gene - OMIM - HGNC]
  • TLR2:toll like receptor 2 [Gene - OMIM - HGNC]
  • TLR3:toll like receptor 3 [Gene - OMIM - HGNC]
  • TLR6:toll like receptor 6 [Gene - OMIM - HGNC]
  • TLL1:tolloid like 1 [Gene - OMIM - HGNC]
  • TRAPPC11:trafficking protein particle complex subunit 11 [Gene - OMIM - HGNC]
  • TECRL:trans-2,3-enoyl-CoA reductase like [Gene - OMIM - HGNC]
  • TADA2B:transcriptional adaptor 2B [Gene - OMIM - HGNC]
  • TACC3:transforming acidic coiled-coil containing protein 3 [Gene - OMIM - HGNC]
  • TRPC3:transient receptor potential cation channel subfamily C member 3 [Gene - OMIM - HGNC]
  • TKTL2:transketolase like 2 [Gene - HGNC]
  • TMA16:translation machinery associated 16 homolog [Gene - HGNC]
  • TRAM1L1:translocation associated membrane protein 1 like 1 [Gene - OMIM - HGNC]
  • TMEM131L:transmembrane 131 like [Gene - OMIM - HGNC]
  • TAPT1:transmembrane anterior posterior transformation 1 [Gene - OMIM - HGNC]
  • TMEM128:transmembrane protein 128 [Gene - HGNC]
  • TMEM129:transmembrane protein 129, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • TMEM144:transmembrane protein 144 [Gene - OMIM - HGNC]
  • TMEM150C:transmembrane protein 150C [Gene - OMIM - HGNC]
  • TMEM154:transmembrane protein 154 [Gene - HGNC]
  • TMEM156:transmembrane protein 156 [Gene - HGNC]
  • TMEM165:transmembrane protein 165 [Gene - OMIM - HGNC]
  • TMEM175:transmembrane protein 175 [Gene - OMIM - HGNC]
  • TMEM184C:transmembrane protein 184C [Gene - OMIM - HGNC]
  • TMEM192:transmembrane protein 192 [Gene - HGNC]
  • TMEM33:transmembrane protein 33 [Gene - OMIM - HGNC]
  • TMPRSS11A:transmembrane serine protease 11A [Gene - OMIM - HGNC]
  • TMPRSS11B:transmembrane serine protease 11B [Gene - HGNC]
  • TMPRSS11D:transmembrane serine protease 11D [Gene - OMIM - HGNC]
  • TMPRSS11E:transmembrane serine protease 11E [Gene - OMIM - HGNC]
  • TMPRSS11F:transmembrane serine protease 11F [Gene - HGNC]
  • TRIM2:tripartite motif containing 2 [Gene - OMIM - HGNC]
  • TRIM60:tripartite motif containing 60 [Gene - OMIM - HGNC]
  • TRIM61:tripartite motif containing 61 [Gene - OMIM - HGNC]
  • TRIML1:tripartite motif family like 1 [Gene - HGNC]
  • TRIML2:tripartite motif family like 2 [Gene - OMIM - HGNC]
  • TDO2:tryptophan 2,3-dioxygenase [Gene - OMIM - HGNC]
  • UCHL1:ubiquitin C-terminal hydrolase L1 [Gene - OMIM - HGNC]
  • UBE2D3:ubiquitin conjugating enzyme E2 D3 [Gene - OMIM - HGNC]
  • UBE2K:ubiquitin conjugating enzyme E2 K [Gene - OMIM - HGNC]
  • UBA6:ubiquitin like modifier activating enzyme 6 [Gene - OMIM - HGNC]
  • USP17L10:ubiquitin specific peptidase 17 like family member 10 [Gene - HGNC]
  • USP17L11:ubiquitin specific peptidase 17 like family member 11 [Gene - HGNC]
  • USP17L12:ubiquitin specific peptidase 17 like family member 12 [Gene - HGNC]
  • USP17L13:ubiquitin specific peptidase 17 like family member 13 [Gene - HGNC]
  • USP17L15:ubiquitin specific peptidase 17 like family member 15 [Gene - HGNC]
  • USP17L17:ubiquitin specific peptidase 17 like family member 17 [Gene - HGNC]
  • USP17L18:ubiquitin specific peptidase 17 like family member 18 [Gene - HGNC]
  • USP17L19:ubiquitin specific peptidase 17 like family member 19 [Gene - HGNC]
  • USP17L20:ubiquitin specific peptidase 17 like family member 20 [Gene - HGNC]
  • USP17L21:ubiquitin specific peptidase 17 like family member 21 [Gene - HGNC]
  • USP17L22:ubiquitin specific peptidase 17 like family member 22 [Gene - HGNC]
  • USP17L24:ubiquitin specific peptidase 17 like family member 24 [Gene - HGNC]
  • USP17L25:ubiquitin specific peptidase 17 like family member 25 [Gene - HGNC]
  • USP17L26:ubiquitin specific peptidase 17 like family member 26 [Gene - HGNC]
  • USP17L27:ubiquitin specific peptidase 17 like family member 27 [Gene - HGNC]
  • USP17L28:ubiquitin specific peptidase 17 like family member 28 [Gene - HGNC]
  • USP17L29:ubiquitin specific peptidase 17 like family member 29 [Gene - HGNC]
  • USP17L30:ubiquitin specific peptidase 17 like family member 30 [Gene - HGNC]
  • USP17L5:ubiquitin specific peptidase 17 like family member 5 [Gene - HGNC]
  • USP38:ubiquitin specific peptidase 38 [Gene - OMIM - HGNC]
  • USP46:ubiquitin specific peptidase 46 [Gene - OMIM - HGNC]
  • USP53:ubiquitin specific peptidase 53 [Gene - OMIM - HGNC]
  • UNC5C:unc-5 netrin receptor C [Gene - OMIM - HGNC]
  • LOC101928198:uncharacterized LOC101928198 [Gene]
  • UCP1:uncoupling protein 1 [Gene - OMIM - HGNC]
  • VEGFC:vascular endothelial growth factor C [Gene - OMIM - HGNC]
  • WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
  • ZCCHC4:zinc finger CCHC-type containing 4 [Gene - OMIM - HGNC]
  • ZFYVE28:zinc finger FYVE-type containing 28 [Gene - OMIM - HGNC]
  • ZGRF1:zinc finger GRF-type containing 1 [Gene - HGNC]
  • ZBTB49:zinc finger and BTB domain containing 49 [Gene - OMIM - HGNC]
  • ZNF141:zinc finger protein 141 [Gene - OMIM - HGNC]
  • ZNF330:zinc finger protein 330 [Gene - OMIM - HGNC]
  • ZNF518B:zinc finger protein 518B [Gene - OMIM - HGNC]
  • ZNF595:zinc finger protein 595 [Gene - HGNC]
  • ZNF718:zinc finger protein 718 [Gene - HGNC]
  • ZNF721:zinc finger protein 721 [Gene - HGNC]
  • ZNF732:zinc finger protein 732 [Gene - HGNC]
  • ZNF827:zinc finger protein 827 [Gene - OMIM - HGNC]
  • ZAR1:zygote arrest 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4p16.3-q35.2
Genomic location:
Chr4: 49450 - 190915650 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)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
    SCV000871491Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
    no assertion criteria provided
    		Pathogenic
    (Oct 31, 2014)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000871491.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing
    (GTR000295241.2)    		not provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedtissuenot provided
    (GTR000295241.2)    		not providednot providednot providednot provided

    Last Updated: Oct 14, 2023