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GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 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:
RCV000512138.2

Allele description

GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3

Genes:
  • DECR2:2,4-dienoyl-CoA reductase 2 [Gene - OMIM - HGNC]
  • OGFOD1:2-oxoglutarate and iron dependent oxygenase domain containing 1 [Gene - OMIM - HGNC]
  • PDPK1:3-phosphoinositide dependent protein kinase 1 [Gene - OMIM - HGNC]
  • ABAT:4-aminobutyrate aminotransferase [Gene - OMIM - HGNC]
  • ACD:ACD shelterin complex subunit and telomerase recruitment factor [Gene - OMIM - HGNC]
  • ADAMTS18:ADAM metallopeptidase with thrombospondin type 1 motif 18 [Gene - OMIM - HGNC]
  • ARL2BP:ADP ribosylation factor like GTPase 2 binding protein [Gene - OMIM - HGNC]
  • ARL6IP1:ADP ribosylation factor like GTPase 6 interacting protein 1 [Gene - OMIM - HGNC]
  • AKTIP:AKT interacting protein [Gene - OMIM - HGNC]
  • ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]
  • ATMIN:ATM interactor [Gene - OMIM - HGNC]
  • ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]
  • ABCC11:ATP binding cassette subfamily C member 11 [Gene - OMIM - HGNC]
  • ABCC12:ATP binding cassette subfamily C member 12 [Gene - OMIM - HGNC]
  • ABCC1:ATP binding cassette subfamily C member 1 [Gene - OMIM - HGNC]
  • ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
  • ATP6V0C:ATPase H+ transporting V0 subunit c [Gene - OMIM - HGNC]
  • ATP6V0D1:ATPase H+ transporting V0 subunit d1 [Gene - OMIM - HGNC]
  • ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • ATP2C2:ATPase secretory pathway Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • BCL7C:BAF chromatin remodeling complex subunit BCL7C [Gene - OMIM - HGNC]
  • BAIAP3:BAI1 associated protein 3 [Gene - OMIM - HGNC]
  • BCAR1:BCAR1 scaffold protein, Cas family member [Gene - OMIM - HGNC]
  • BICDL2:BICD family like cargo adaptor 2 [Gene - OMIM - HGNC]
  • BRICD5:BRICHOS domain containing 5 [Gene - HGNC]
  • BANP:BTG3 associated nuclear protein [Gene - OMIM - HGNC]
  • BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
  • CCL17:C-C motif chemokine ligand 17 [Gene - OMIM - HGNC]
  • CCL22:C-C motif chemokine ligand 22 [Gene - OMIM - HGNC]
  • CX3CL1:C-X3-C motif chemokine ligand 1 [Gene - OMIM - HGNC]
  • CMC2:C-X9-C motif containing 2 [Gene - HGNC]
  • CLEC16A:C-type lectin domain containing 16A [Gene - OMIM - HGNC]
  • CLEC19A:C-type lectin domain containing 19A [Gene - HGNC]
  • CLEC18A:C-type lectin domain family 18 member A [Gene - OMIM - HGNC]
  • CLEC18B:C-type lectin domain family 18 member B [Gene - OMIM - HGNC]
  • CLEC18C:C-type lectin domain family 18 member C [Gene - OMIM - HGNC]
  • CLEC3A:C-type lectin domain family 3 member A [Gene - OMIM - HGNC]
  • C1QTNF8:C1q and TNF related 8 [Gene - OMIM - HGNC]
  • CASKIN1:CASK interacting protein 1 [Gene - OMIM - HGNC]
  • CBFA2T3:CBFA2/RUNX1 partner transcriptional co-repressor 3 [Gene - OMIM - HGNC]
  • CIBAR2:CBY1 interacting BAR domain containing 2 [Gene - OMIM - HGNC]
  • CTCF:CCCTC-binding factor [Gene - OMIM - HGNC]
  • CNOT1:CCR4-NOT transcription complex subunit 1 [Gene - OMIM - HGNC]
  • CD19:CD19 molecule [Gene - OMIM - HGNC]
  • CD2BP2:CD2 cytoplasmic tail binding protein 2 [Gene - OMIM - HGNC]
  • CDIPT:CDP-diacylglycerol--inositol 3-phosphatidyltransferase [Gene - OMIM - HGNC]
  • CENPBD1:CENPB DNA-binding domain containing 1 [Gene - HGNC]
  • CMTM1:CKLF like MARVEL transmembrane domain containing 1 [Gene - OMIM - HGNC]
  • CMTM2:CKLF like MARVEL transmembrane domain containing 2 [Gene - OMIM - HGNC]
  • CMTM3:CKLF like MARVEL transmembrane domain containing 3 [Gene - OMIM - HGNC]
  • CMTM4:CKLF like MARVEL transmembrane domain containing 4 [Gene - OMIM - HGNC]
  • CKLF-CMTM1:CKLF-CMTM1 readthrough [Gene - HGNC]
  • CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
  • CORO7-PAM16:CORO7-PAM16 readthrough [Gene - HGNC]
  • CREBBP:CREB binding protein [Gene - OMIM - HGNC]
  • CNEP1R1:CTD nuclear envelope phosphatase 1 regulatory subunit 1 [Gene - OMIM - HGNC]
  • CYLD:CYLD lysine 63 deubiquitinase [Gene - OMIM - HGNC]
  • DDX19A:DEAD-box helicase 19A [Gene - HGNC]
  • DDX19B:DEAD-box helicase 19B [Gene - OMIM - HGNC]
  • DDX28:DEAD-box helicase 28 [Gene - OMIM - HGNC]
  • DHX38:DEAH-box helicase 38 [Gene - OMIM - HGNC]
  • DEXI:Dexi homolog [Gene - OMIM - HGNC]
  • DNAJA2:DnaJ heat shock protein family (Hsp40) member A2 [Gene - OMIM - HGNC]
  • DNAJA3:DnaJ heat shock protein family (Hsp40) member A3 [Gene - OMIM - HGNC]
  • E2F4:E2F transcription factor 4 [Gene - OMIM - HGNC]
  • E4F1:E4F transcription factor 1 [Gene - OMIM - HGNC]
  • EMC8:ER membrane protein complex subunit 8 [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]
  • FBXL19:F-box and leucine rich repeat protein 19 [Gene - OMIM - HGNC]
  • FBXL8:F-box and leucine rich repeat protein 8 [Gene - OMIM - HGNC]
  • FBXO31:F-box protein 31 [Gene - OMIM - HGNC]
  • FANCA:FA complementation group A [Gene - OMIM - HGNC]
  • FLYWCH2:FLYWCH family member 2 [Gene - HGNC]
  • FLYWCH1:FLYWCH-type zinc finger 1 [Gene - OMIM - HGNC]
  • FENDRR:FOXF1 adjacent non-coding developmental regulatory RNA [Gene - OMIM - HGNC]
  • FTO:FTO alpha-ketoglutarate dependent dioxygenase [Gene - OMIM - HGNC]
  • FUS:FUS RNA binding protein [Gene - OMIM - HGNC]
  • GNAO1:G protein subunit alpha o1 [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]
  • GABARAPL2:GABA type A receptor associated protein like 2 [Gene - OMIM - HGNC]
  • GAS8-AS1:GAS8 antisense RNA 1 [Gene - OMIM - HGNC]
  • GINS2:GINS complex subunit 2 [Gene - OMIM - HGNC]
  • GINS3:GINS complex subunit 3 [Gene - OMIM - HGNC]
  • GLIS2:GLIS family zinc finger 2 [Gene - OMIM - HGNC]
  • GSG1L:GSG1 like [Gene - OMIM - HGNC]
  • GFOD2:Gfo/Idh/MocA-like oxidoreductase domain containing 2 [Gene - OMIM - HGNC]
  • GSE1:Gse1 coiled-coil protein [Gene - OMIM - HGNC]
  • HEATR3:HEAT repeat containing 3 [Gene - OMIM - HGNC]
  • HIRIP3:HIRA interacting protein 3 [Gene - OMIM - HGNC]
  • HAPSTR1:HUWE1 associated protein modifying stress responses [Gene - HGNC]
  • HYDIN:HYDIN axonemal central pair apparatus protein [Gene - OMIM - HGNC]
  • INO80E:INO80 complex subunit E [Gene - HGNC]
  • IQCK:IQ motif containing K [Gene - HGNC]
  • IST1:IST1 factor associated with ESCRT-III [Gene - OMIM - HGNC]
  • ITPRIPL2:ITPRIP like 2 [Gene - HGNC]
  • JPT2:Jupiter microtubule associated homolog 2 [Gene - OMIM - HGNC]
  • KIAA0513:KIAA0513 [Gene - OMIM - HGNC]
  • KRBOX5:KRAB box domain containing 5 [Gene - HGNC]
  • LUC7L:LUC7 like [Gene - OMIM - HGNC]
  • LYRM1:LYR motif containing 1 [Gene - OMIM - HGNC]
  • MPHOSPH6:M-phase phosphoprotein 6 [Gene - OMIM - HGNC]
  • MAF:MAF bZIP transcription factor [Gene - OMIM - HGNC]
  • MCRIP2:MAPK regulated corepressor interacting protein 2 [Gene - HGNC]
  • MARVELD3:MARVEL domain containing 3 [Gene - OMIM - HGNC]
  • MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]
  • MON1B:MON1 homolog B, secretory trafficking associated [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]
  • MEAK7:MTOR associated protein, eak-7 homolog [Gene - OMIM - HGNC]
  • MTSS2:MTSS I-BAR domain containing 2 [Gene - OMIM - HGNC]
  • MAZ:MYC associated zinc finger protein [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]
  • NECAB2:N-terminal EF-hand calcium binding protein 2 [Gene - OMIM - HGNC]
  • NTAN1:N-terminal asparagine amidase [Gene - OMIM - HGNC]
  • NQO1:NAD(P)H quinone dehydrogenase 1 [Gene - OMIM - HGNC]
  • NDUFAB1:NADH:ubiquinone oxidoreductase subunit AB1 [Gene - OMIM - HGNC]
  • NDUFB10:NADH:ubiquinone oxidoreductase subunit B10 [Gene - OMIM - HGNC]
  • NOXO1:NADPH oxidase organizer 1 [Gene - OMIM - HGNC]
  • NDRG4:NDRG family member 4 [Gene - OMIM - HGNC]
  • N4BP1:NEDD4 binding protein 1 [Gene - OMIM - HGNC]
  • NAE1:NEDD8 activating enzyme E1 subunit 1 [Gene - OMIM - HGNC]
  • NHERF2:NHERF family PDZ scaffold protein 2 [Gene - OMIM - HGNC]
  • NHLRC4:NHL repeat containing 4 [Gene - HGNC]
  • NOB1:NIN1 (RPN12) binding protein 1 homolog [Gene - OMIM - HGNC]
  • NKD1:NKD inhibitor of WNT signaling pathway 1 [Gene - OMIM - HGNC]
  • NLRC3:NLR family CARD domain containing 3 [Gene - OMIM - HGNC]
  • NLRC5:NLR family CARD domain containing 5 [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]
  • NSMCE1:NSE1 homolog, SMC5-SMC6 complex component [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]
  • ORAI3:ORAI calcium release-activated calcium modulator 3 [Gene - OMIM - HGNC]
  • PABPN1L:PABPN1 like, cytoplasmic [Gene - HGNC]
  • PAGR1:PAXIP1 associated glutamate rich protein 1 [Gene - OMIM - HGNC]
  • PDZD9:PDZ domain containing 9 [Gene - HGNC]
  • PHLPP2:PH domain and leucine rich repeat protein phosphatase 2 [Gene - OMIM - HGNC]
  • PRDM7:PR/SET domain 7 [Gene - OMIM - HGNC]
  • PYCARD:PYD and CARD domain containing [Gene - OMIM - 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]
  • RANBP10:RAN binding protein 10 [Gene - OMIM - HGNC]
  • RBBP6:RB binding protein 6, ubiquitin ligase [Gene - OMIM - HGNC]
  • RBL2:RB transcriptional corepressor like 2 [Gene - OMIM - HGNC]
  • RIPOR1:RHO family interacting cell polarization regulator 1 [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]
  • POLR2C:RNA polymerase II subunit C [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]
  • RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]
  • RRAD:RRAD, Ras related glycolysis inhibitor and calcium channel regulator [Gene - OMIM - HGNC]
  • RRN3:RRN3 homolog, RNA polymerase I transcription factor [Gene - OMIM - HGNC]
  • RUSF1:RUS family member 1 [Gene - HGNC]
  • RMI2:RecQ mediated genome instability 2 [Gene - OMIM - HGNC]
  • ARHGDIG:Rho GDP dissociation inhibitor gamma [Gene - OMIM - HGNC]
  • ARHGAP17:Rho GTPase activating protein 17 [Gene - OMIM - HGNC]
  • SGF29:SAGA complex associated factor 29 [Gene - OMIM - HGNC]
  • SEC14L5:SEC14 like lipid binding 5 [Gene - OMIM - HGNC]
  • SETD1A:SET domain containing 1A, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • SETD6:SET domain containing 6, protein lysine methyltransferase [Gene - OMIM - HGNC]
  • SH2B1:SH2B adaptor protein 1 [Gene - OMIM - HGNC]
  • SBK1:SH3 domain binding kinase 1 [Gene - OMIM - HGNC]
  • SHCBP1:SHC binding and spindle associated 1 [Gene - OMIM - HGNC]
  • SLX1A:SLX1 homolog A, structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • SLX1B:SLX1 homolog B, structure-specific endonuclease subunit [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]
  • SPG7:SPG7 matrix AAA peptidase subunit, paraplegin [Gene - OMIM - HGNC]
  • SPNS1:SPNS lysolipid transporter 1, lysophospholipid [Gene - OMIM - HGNC]
  • SOX8:SRY-box transcription factor 8 [Gene - OMIM - HGNC]
  • ST3GAL2:ST3 beta-galactoside alpha-2,3-sialyltransferase 2 [Gene - OMIM - HGNC]
  • STUB1:STIP1 homology and U-box containing protein 1 [Gene - OMIM - HGNC]
  • SRCAP:Snf2 related CREBBP activator protein [Gene - OMIM - HGNC]
  • TBX6:T-box transcription factor 6 [Gene - OMIM - HGNC]
  • TAOK2:TAO kinase 2 [Gene - OMIM - HGNC]
  • TAF1C:TATA-box binding protein associated factor, RNA polymerase I subunit C [Gene - OMIM - HGNC]
  • TBC1D10B:TBC1 domain family member 10B [Gene - OMIM - HGNC]
  • TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
  • TERF2IP:TERF2 interacting protein [Gene - OMIM - HGNC]
  • THAP11:THAP domain containing 11 [Gene - OMIM - HGNC]
  • THOC6:THO complex subunit 6 [Gene - OMIM - HGNC]
  • THUMPD1:THUMP domain containing 1 [Gene - OMIM - HGNC]
  • TLCD3B:TLC domain containing 3B [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]
  • TRADD:TNFRSF1A associated via death domain [Gene - OMIM - HGNC]
  • TOX3:TOX high mobility group box family member 3 [Gene - OMIM - HGNC]
  • TP53TG3:TP53 target 3 [Gene - OMIM - HGNC]
  • TP53TG3B:TP53 target 3B [Gene - HGNC]
  • TP53TG3C:TP53 target 3C [Gene - HGNC]
  • TP53TG3D:TP53 target 3D [Gene - HGNC]
  • TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
  • TSR3:TSR3 ribosome maturation factor [Gene - OMIM - HGNC]
  • TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • USB1:U6 snRNA biogenesis phosphodiesterase 1 [Gene - OMIM - HGNC]
  • UBALD1:UBA like domain containing 1 [Gene - HGNC]
  • B3GNT9:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 [Gene - HGNC]
  • UTP4:UTP4 small subunit processome component [Gene - OMIM - HGNC]
  • VAC14:VAC14 component of PIKFYVE complex [Gene - OMIM - HGNC]
  • VPS35L:VPS35 endosomal protein sorting factor like [Gene - OMIM - HGNC]
  • VPS35:VPS35 retromer complex component [Gene - OMIM - HGNC]
  • VPS9D1:VPS9 domain containing 1 [Gene - OMIM - HGNC]
  • WFDC1:WAP four-disulfide core domain 1 [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]
  • WDR59:WD repeat domain 59 [Gene - OMIM - HGNC]
  • WDR90:WD repeat domain 90 [Gene - OMIM - HGNC]
  • WWP2:WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
  • ZCCHC14-DT:ZCCHC14 divergent transcript [Gene - HGNC]
  • ZFP1:ZFP1 zinc finger protein [Gene - OMIM - HGNC]
  • ZFP90:ZFP90 zinc finger protein [Gene - OMIM - HGNC]
  • ATF7IP2:activating transcription factor 7 interacting protein 2 [Gene - OMIM - HGNC]
  • ACSF3:acyl-CoA synthetase family member 3 [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]
  • AP1G1:adaptor related protein complex 1 subunit gamma 1 [Gene - OMIM - HGNC]
  • ANTKMT:adenine nucleotide translocase lysine methyltransferase [Gene - OMIM - HGNC]
  • APRT:adenine phosphoribosyltransferase [Gene - OMIM - HGNC]
  • ADAD2:adenosine deaminase domain containing 2 [Gene - OMIM - HGNC]
  • ADAT1:adenosine deaminase tRNA specific 1 [Gene - OMIM - HGNC]
  • ADCY7:adenylate cyclase 7 [Gene - OMIM - HGNC]
  • ADCY9:adenylate cyclase 9 [Gene - OMIM - HGNC]
  • ADGRG1:adhesion G protein-coupled receptor G1 [Gene - OMIM - HGNC]
  • ADGRG3:adhesion G protein-coupled receptor G3 [Gene - OMIM - HGNC]
  • ADGRG5:adhesion G protein-coupled receptor G5 [Gene - OMIM - HGNC]
  • AGRP:agouti related neuropeptide [Gene - OMIM - HGNC]
  • AARS1:alanyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • ALDOA:aldolase, fructose-bisphosphate A [Gene - OMIM - HGNC]
  • AHSP:alpha hemoglobin stabilizing protein [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]
  • ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]
  • APOBR:apolipoprotein B receptor [Gene - OMIM - HGNC]
  • AQP8:aquaporin 8 [Gene - OMIM - HGNC]
  • ARMC5:armadillo repeat containing 5 [Gene - OMIM - HGNC]
  • ASPHD1:aspartate beta-hydroxylase domain containing 1 [Gene - HGNC]
  • ATXN1L:ataxin 1 like [Gene - OMIM - HGNC]
  • ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
  • AMFR:autocrine motility factor receptor [Gene - OMIM - HGNC]
  • AXIN1:axin 1 [Gene - OMIM - HGNC]
  • BMERB1:bMERB domain containing 1 [Gene - HGNC]
  • BCO1:beta-carotene oxygenase 1 [Gene - OMIM - HGNC]
  • BFAR:bifunctional apoptosis regulator [Gene - OMIM - HGNC]
  • BOLA2:bolA family member 2 [Gene - OMIM - HGNC]
  • BOLA2B:bolA family member 2B [Gene - HGNC]
  • BEAN1:brain expressed associated with NEDD4 1 [Gene - OMIM - HGNC]
  • BCKDK:branched chain keto acid dehydrogenase kinase [Gene - OMIM - HGNC]
  • BCAR4:breast cancer anti-estrogen resistance 4 [Gene - OMIM - HGNC]
  • BRD7:bromodomain containing 7 [Gene - OMIM - HGNC]
  • CMIP:c-Maf inducing protein [Gene - OMIM - HGNC]
  • CDH11:cadherin 11 [Gene - OMIM - HGNC]
  • CDH13:cadherin 13 [Gene - OMIM - HGNC]
  • CDH15:cadherin 15 [Gene - OMIM - HGNC]
  • CDH16:cadherin 16 [Gene - OMIM - HGNC]
  • CDH1:cadherin 1 [Gene - OMIM - HGNC]
  • CDH3:cadherin 3 [Gene - OMIM - HGNC]
  • CDH5:cadherin 5 [Gene - OMIM - HGNC]
  • CDH8:cadherin 8 [Gene - OMIM - HGNC]
  • CALB2:calbindin 2 [Gene - OMIM - HGNC]
  • CHP2:calcineurin like EF-hand protein 2 [Gene - HGNC]
  • CPPED1:calcineurin like phosphoesterase domain containing 1 [Gene - OMIM - HGNC]
  • CARHSP1:calcium regulated heat stable protein 1 [Gene - OMIM - HGNC]
  • CACNG3:calcium voltage-gated channel auxiliary subunit gamma 3 [Gene - OMIM - HGNC]
  • CACNA1H:calcium voltage-gated channel subunit alpha1 H [Gene - OMIM - HGNC]
  • CAPN15:calpain 15 [Gene - OMIM - HGNC]
  • CAPNS2:calpain small subunit 2 [Gene - OMIM - HGNC]
  • CMTR2:cap methyltransferase 2 [Gene - OMIM - HGNC]
  • CARMIL2:capping protein regulator and myosin 1 linker 2 [Gene - OMIM - HGNC]
  • CHST4:carbohydrate sulfotransferase 4 [Gene - HGNC]
  • CHST5:carbohydrate sulfotransferase 5 [Gene - OMIM - HGNC]
  • CHST6:carbohydrate sulfotransferase 6 [Gene - OMIM - HGNC]
  • CA5A:carbonic anhydrase 5A [Gene - OMIM - HGNC]
  • CA7:carbonic anhydrase 7 [Gene - OMIM - HGNC]
  • CES1:carboxylesterase 1 [Gene - OMIM - HGNC]
  • CES2:carboxylesterase 2 [Gene - OMIM - HGNC]
  • CES3:carboxylesterase 3 [Gene - OMIM - HGNC]
  • CES4A:carboxylesterase 4A [Gene - HGNC]
  • CES5A:carboxylesterase 5A [Gene - OMIM - HGNC]
  • CTF1:cardiotrophin 1 [Gene - OMIM - HGNC]
  • CSNK2A2:casein kinase 2 alpha 2 [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]
  • CENPN:centromere protein N [Gene - OMIM - HGNC]
  • CENPT:centromere protein T [Gene - OMIM - HGNC]
  • CEP20:centrosomal protein 20 [Gene - OMIM - HGNC]
  • CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
  • CBLN1:cerebellin 1 precursor [Gene - OMIM - HGNC]
  • CHMP1A:charged multivesicular body protein 1A [Gene - OMIM - HGNC]
  • CKLF:chemokine like factor [Gene - OMIM - HGNC]
  • CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]
  • CETP:cholesteryl ester transfer protein [Gene - OMIM - HGNC]
  • CDT1:chromatin licensing and DNA replication factor 1 [Gene - OMIM - HGNC]
  • CDYL2:chromodomain Y like 2 [Gene - OMIM - HGNC]
  • CHD9:chromodomain helicase DNA binding protein 9 [Gene - OMIM - HGNC]
  • C16orf46:chromosome 16 open reading frame 46 [Gene - HGNC]
  • C16orf54:chromosome 16 open reading frame 54 [Gene - HGNC]
  • C16orf74:chromosome 16 open reading frame 74 [Gene - HGNC]
  • C16orf78:chromosome 16 open reading frame 78 [Gene - HGNC]
  • C16orf82:chromosome 16 open reading frame 82 [Gene - HGNC]
  • C16orf86:chromosome 16 open reading frame 86 [Gene - HGNC]
  • C16orf87:chromosome 16 open reading frame 87 [Gene - HGNC]
  • C16orf89:chromosome 16 open reading frame 89 [Gene - HGNC]
  • C16orf90:chromosome 16 open reading frame 90 [Gene - HGNC]
  • C16orf92:chromosome 16 open reading frame 92 [Gene - OMIM - HGNC]
  • C16orf95:chromosome 16 open reading frame 95 [Gene - HGNC]
  • C16orf96:chromosome 16 open reading frame 96 [Gene - HGNC]
  • CHTF18:chromosome transmission fidelity factor 18 [Gene - OMIM - HGNC]
  • CHTF8:chromosome transmission fidelity factor 8 [Gene - OMIM - HGNC]
  • CTRL:chymotrypsin like [Gene - OMIM - HGNC]
  • CTRB1:chymotrypsinogen B1 [Gene - OMIM - HGNC]
  • CTRB2:chymotrypsinogen B2 [Gene - OMIM - HGNC]
  • CFAP119:cilia and flagella associated protein 119 [Gene - OMIM - HGNC]
  • CFAP20:cilia and flagella associated protein 20 [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]
  • COTL1:coactosin like F-actin binding protein 1 [Gene - OMIM - HGNC]
  • COQ7:coenzyme Q7, hydroxylase [Gene - OMIM - HGNC]
  • COQ9:coenzyme Q9 [Gene - OMIM - HGNC]
  • CCDC102A:coiled-coil domain containing 102A [Gene - HGNC]
  • CCDC113:coiled-coil domain containing 113 [Gene - OMIM - HGNC]
  • CCDC154:coiled-coil domain containing 154 [Gene - OMIM - HGNC]
  • CCDC78:coiled-coil domain containing 78 [Gene - OMIM - HGNC]
  • COG4:component of oligomeric golgi complex 4 [Gene - OMIM - HGNC]
  • COG7:component of oligomeric golgi complex 7 [Gene - OMIM - HGNC]
  • COG8:component of oligomeric golgi complex 8 [Gene - OMIM - HGNC]
  • CNTNAP4:contactin associated protein family member 4 [Gene - OMIM - HGNC]
  • CPNE2:copine 2 [Gene - OMIM - HGNC]
  • CPNE7:copine 7 [Gene - OMIM - HGNC]
  • CBFB:core-binding factor subunit beta [Gene - OMIM - HGNC]
  • CORO1A:coronin 1A [Gene - OMIM - HGNC]
  • CORO7:coronin 7 [Gene - OMIM - HGNC]
  • CRAMP1:cramped chromatin regulator homolog 1 [Gene - HGNC]
  • CFDP1:craniofacial development protein 1 [Gene - OMIM - HGNC]
  • CRYM:crystallin mu [Gene - OMIM - HGNC]
  • CNGB1:cyclic nucleotide gated channel subunit beta 1 [Gene - OMIM - HGNC]
  • CCNF:cyclin F [Gene - OMIM - HGNC]
  • CCNYL3:cyclin Y-like 3 [Gene - HGNC]
  • CDK10:cyclin dependent kinase 10 [Gene - OMIM - HGNC]
  • CRISPLD2:cysteine rich secretory protein LCCL domain containing 2 [Gene - OMIM - HGNC]
  • CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
  • CYB5B:cytochrome b5 type B [Gene - OMIM - HGNC]
  • COX4I1:cytochrome c oxidase subunit 4I1 [Gene - OMIM - HGNC]
  • COX6A2:cytochrome c oxidase subunit 6A2 [Gene - OMIM - HGNC]
  • CIAPIN1:cytokine induced apoptosis inhibitor 1 [Gene - OMIM - HGNC]
  • CIAO2B:cytosolic iron-sulfur assembly component 2B [Gene - OMIM - HGNC]
  • CIAO3:cytosolic iron-sulfur assembly component 3 [Gene - OMIM - HGNC]
  • CTU2:cytosolic thiouridylase subunit 2 [Gene - OMIM - HGNC]
  • DCTPP1:dCTP pyrophosphatase 1 [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]
  • DEF8:differentially expressed in FDCP 8 homolog [Gene - HGNC]
  • DHODH:dihydroorotate dehydrogenase (quinone) [Gene - OMIM - HGNC]
  • DUS2:dihydrouridine synthase 2 [Gene - OMIM - HGNC]
  • DPEP1:dipeptidase 1 [Gene - OMIM - HGNC]
  • DPEP2:dipeptidase 2 [Gene - OMIM - HGNC]
  • DPEP3:dipeptidase 3 [Gene - OMIM - HGNC]
  • DOK4:docking protein 4 [Gene - OMIM - HGNC]
  • DOC2A:double C2 domain alpha [Gene - OMIM - HGNC]
  • DCTN5:dynactin subunit 5 [Gene - OMIM - HGNC]
  • DNAAF1:dynein axonemal assembly factor 1 [Gene - OMIM - HGNC]
  • DNAAF8:dynein axonemal assembly factor 8 [Gene - HGNC]
  • DNAH3:dynein axonemal heavy chain 3 [Gene - OMIM - HGNC]
  • DYNC1LI2:dynein cytoplasmic 1 light intermediate chain 2 [Gene - OMIM - HGNC]
  • DYNLRB2:dynein light chain roadblock-type 2 [Gene - OMIM - HGNC]
  • DRC7:dynein regulatory complex subunit 7 [Gene - OMIM - HGNC]
  • DBNDD1:dysbindin domain containing 1 [Gene - OMIM - HGNC]
  • ELOB:elongin B [Gene - OMIM - HGNC]
  • ERN2:endoplasmic reticulum to nucleus signaling 2 [Gene - OMIM - HGNC]
  • ELMO3:engulfment and cell motility 3 [Gene - OMIM - HGNC]
  • EDC4:enhancer of mRNA decapping 4 [Gene - OMIM - HGNC]
  • ENKD1:enkurin domain containing 1 [Gene - HGNC]
  • ECI1:enoyl-CoA delta isomerase 1 [Gene - OMIM - HGNC]
  • EMP2:epithelial membrane protein 2 [Gene - OMIM - HGNC]
  • ESRP2:epithelial splicing regulatory 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]
  • EIF3CL:eukaryotic translation initiation factor 3 subunit C like [Gene - HGNC]
  • EIF3C:eukaryotic translation initiation factor 3 subunit C [Gene - OMIM - HGNC]
  • EXOC3L1:exocyst complex component 3 like 1 [Gene - OMIM - HGNC]
  • EXOSC6:exosome component 6 [Gene - OMIM - HGNC]
  • XPO6:exportin 6 [Gene - OMIM - HGNC]
  • FAM234A:family with sequence similarity 234 member A [Gene - HGNC]
  • FA2H:fatty acid 2-hydroxylase [Gene - OMIM - HGNC]
  • FBRS:fibrosin [Gene - OMIM - HGNC]
  • FOXC2:forkhead box C2 [Gene - OMIM - HGNC]
  • FOXF1:forkhead box F1 [Gene - OMIM - HGNC]
  • FOXL1:forkhead box L1 [Gene - OMIM - HGNC]
  • FHOD1:formin homology 2 domain containing 1 [Gene - OMIM - HGNC]
  • FCSK:fucose kinase [Gene - OMIM - HGNC]
  • FAHD1:fumarylacetoacetate hydrolase domain containing 1 [Gene - OMIM - HGNC]
  • GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
  • GTF3C1:general transcription factor IIIC subunit 1 [Gene - OMIM - HGNC]
  • GAN:gigaxonin [Gene - OMIM - HGNC]
  • GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]
  • GPT2:glutamic--pyruvic transaminase 2 [Gene - OMIM - HGNC]
  • GOT2:glutamic-oxaloacetic transaminase 2 [Gene - OMIM - HGNC]
  • EARS2:glutamyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • GDE1:glycerophosphodiester phosphodiesterase 1 [Gene - OMIM - HGNC]
  • GDPD3:glycerophosphodiester phosphodiesterase domain containing 3 [Gene - OMIM - HGNC]
  • GCSH:glycine cleavage system protein H [Gene - OMIM - HGNC]
  • GP2:glycoprotein 2 [Gene - OMIM - HGNC]
  • GLYR1:glyoxylate reductase 1 homolog [Gene - OMIM - HGNC]
  • GGA2:golgi associated, gamma adaptin ear containing, ARF binding protein 2 [Gene - OMIM - HGNC]
  • GLG1:golgi glycoprotein 1 [Gene - OMIM - HGNC]
  • GAS8:growth arrest specific 8 [Gene - OMIM - HGNC]
  • GFER:growth factor, augmenter of liver regeneration [Gene - OMIM - HGNC]
  • HPR:haptoglobin-related protein [Gene - OMIM - HGNC]
  • HP:haptoglobin [Gene - OMIM - HGNC]
  • HSBP1:heat shock factor binding protein 1 [Gene - OMIM - HGNC]
  • HSF4:heat shock transcription factor 4 [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]
  • HS3ST2:heparan sulfate-glucosamine 3-sulfotransferase 2 [Gene - OMIM - HGNC]
  • HS3ST4:heparan sulfate-glucosamine 3-sulfotransferase 4 [Gene - OMIM - HGNC]
  • HS3ST6:heparan sulfate-glucosamine 3-sulfotransferase 6 [Gene - OMIM - HGNC]
  • HERPUD1:homocysteine inducible ER protein with ubiquitin like domain 1 [Gene - OMIM - HGNC]
  • HCFC1R1:host cell factor C1 regulator 1 [Gene - OMIM - HGNC]
  • HAS3:hyaluronan synthase 3 [Gene - OMIM - HGNC]
  • HSD3B7:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Gene - OMIM - HGNC]
  • HAGHL:hydroxyacylglutathione hydrolase like [Gene - HGNC]
  • HAGH:hydroxyacylglutathione hydrolase [Gene - OMIM - HGNC]
  • HSD11B2:hydroxysteroid 11-beta dehydrogenase 2 [Gene - OMIM - HGNC]
  • HSD17B2:hydroxysteroid 17-beta dehydrogenase 2 [Gene - OMIM - HGNC]
  • HSDL1:hydroxysteroid dehydrogenase like 1 [Gene - OMIM - HGNC]
  • IGSF6:immunoglobulin superfamily member 6 [Gene - OMIM - HGNC]
  • IGFALS:insulin like growth factor binding protein acid labile subunit [Gene - OMIM - HGNC]
  • ITFG1:integrin alpha FG-GAP repeat containing 1 [Gene - OMIM - HGNC]
  • ITGAD:integrin subunit alpha D [Gene - OMIM - HGNC]
  • ITGAL:integrin subunit alpha L [Gene - OMIM - HGNC]
  • ITGAM:integrin subunit alpha M [Gene - OMIM - HGNC]
  • ITGAX:integrin subunit alpha X [Gene - OMIM - HGNC]
  • IRF8:interferon regulatory factor 8 [Gene - OMIM - HGNC]
  • IL17C:interleukin 17C [Gene - OMIM - HGNC]
  • IL21R:interleukin 21 receptor [Gene - OMIM - HGNC]
  • IL27:interleukin 27 [Gene - OMIM - HGNC]
  • IL32:interleukin 32 [Gene - OMIM - HGNC]
  • IL34:interleukin 34 [Gene - OMIM - HGNC]
  • IL4R:interleukin 4 receptor [Gene - OMIM - HGNC]
  • IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
  • IRX3:iroquois homeobox 3 [Gene - OMIM - HGNC]
  • IRX5:iroquois homeobox 5 [Gene - OMIM - HGNC]
  • IRX6:iroquois homeobox 6 [Gene - OMIM - HGNC]
  • JMJD8:jumonji domain containing 8 [Gene - HGNC]
  • JPH3:junctophilin 3 [Gene - OMIM - HGNC]
  • KATNIP:katanin interacting protein [Gene - OMIM - HGNC]
  • KATNB1:katanin regulatory subunit B1 [Gene - OMIM - HGNC]
  • KLHDC4:kelch domain containing 4 [Gene - HGNC]
  • KLHL36:kelch like family member 36 [Gene - HGNC]
  • KIF22:kinesin family member 22 [Gene - OMIM - HGNC]
  • KIFC3:kinesin family member C3 [Gene - OMIM - HGNC]
  • KREMEN2:kringle containing transmembrane protein 2 [Gene - OMIM - HGNC]
  • LDHD:lactate dehydrogenase D [Gene - OMIM - HGNC]
  • LCAT:lecithin-cholesterol acyltransferase [Gene - OMIM - HGNC]
  • LCMT1:leucine carboxyl methyltransferase 1 [Gene - OMIM - HGNC]
  • LRRC29:leucine rich repeat containing 29 [Gene - HGNC]
  • LRRC36:leucine rich repeat containing 36 [Gene - HGNC]
  • LAT:linker for activation of T cells [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]
  • LONP2:lon peptidase 2, peroxisomal [Gene - OMIM - HGNC]
  • LINC01082:long intergenic non-protein coding RNA 1082 [Gene - OMIM - HGNC]
  • LINC02911:long intergenic non-protein coding RNA 2911 [Gene - HGNC]
  • KAT8:lysine acetyltransferase 8 [Gene - OMIM - HGNC]
  • KDM8:lysine demethylase 8 [Gene - OMIM - HGNC]
  • KNOP1:lysine rich nucleolar protein 1 [Gene - HGNC]
  • LPCAT2:lysophosphatidylcholine acyltransferase 2 [Gene - OMIM - HGNC]
  • KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • MGRN1:mahogunin ring finger 1 [Gene - OMIM - HGNC]
  • MVP:major vault protein [Gene - OMIM - HGNC]
  • MLYCD:malonyl-CoA decarboxylase [Gene - OMIM - HGNC]
  • MMP15:matrix metallopeptidase 15 [Gene - OMIM - HGNC]
  • MMP25:matrix metallopeptidase 25 [Gene - OMIM - HGNC]
  • MMP2:matrix metallopeptidase 2 [Gene - OMIM - HGNC]
  • MARF1:meiosis regulator and mRNA stability factor 1 [Gene - OMIM - HGNC]
  • MEIOB:meiosis specific with OB-fold [Gene - OMIM - HGNC]
  • MC1R:melanocortin 1 receptor [Gene - OMIM - HGNC]
  • MBTPS1:membrane bound transcription factor peptidase, site 1 [Gene - OMIM - HGNC]
  • MSLN:mesothelin [Gene - OMIM - HGNC]
  • MT1A:metallothionein 1A [Gene - OMIM - HGNC]
  • MT1B:metallothionein 1B [Gene - OMIM - HGNC]
  • MT1E:metallothionein 1E [Gene - OMIM - HGNC]
  • MT1F:metallothionein 1F [Gene - OMIM - HGNC]
  • MT1G:metallothionein 1G [Gene - OMIM - HGNC]
  • MT1H:metallothionein 1H [Gene - OMIM - HGNC]
  • MT1M:metallothionein 1M [Gene - OMIM - HGNC]
  • MT1X:metallothionein 1X [Gene - OMIM - HGNC]
  • MT2A:metallothionein 2A [Gene - OMIM - HGNC]
  • MT3:metallothionein 3 [Gene - OMIM - HGNC]
  • MT4:metallothionein 4 [Gene - OMIM - HGNC]
  • METRN:meteorin, glial cell differentiation regulator [Gene - OMIM - HGNC]
  • MTHFSD:methenyltetrahydrofolate synthetase domain containing [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]
  • MVD:mevalonate diphosphate decarboxylase [Gene - OMIM - HGNC]
  • MIR1225:microRNA 1225 [Gene - OMIM - HGNC]
  • MIR138-2:microRNA 138-2 [Gene - OMIM - HGNC]
  • MIR140:microRNA 140 [Gene - OMIM - HGNC]
  • MIR193B:microRNA 193b [Gene - OMIM - HGNC]
  • MIR328:microRNA 328 [Gene - OMIM - HGNC]
  • MIR365A:microRNA 365a [Gene - OMIM - HGNC]
  • MAP1LC3B:microtubule associated protein 1 light chain 3 beta [Gene - OMIM - HGNC]
  • MATCAP1:microtubule associated tyrosine carboxypeptidase 1 [Gene - OMIM - HGNC]
  • MRPL28:mitochondrial ribosomal protein L28 [Gene - OMIM - HGNC]
  • MRPS34:mitochondrial ribosomal protein S34 [Gene - OMIM - HGNC]
  • MAPK3:mitogen-activated protein kinase 3 [Gene - OMIM - HGNC]
  • MAPK8IP3:mitogen-activated protein kinase 8 interacting protein 3 [Gene - OMIM - HGNC]
  • MLKL:mixed lineage kinase domain like pseudokinase [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]
  • MYL11:myosin light chain 11 [Gene - OMIM - HGNC]
  • MYLK3:myosin light chain kinase 3 [Gene - OMIM - HGNC]
  • NTN3:netrin 3 [Gene - OMIM - HGNC]
  • NRN1L:neuritin 1 like [Gene - HGNC]
  • NPW:neuropeptide W [Gene - OMIM - HGNC]
  • NETO2:neuropilin and tolloid like 2 [Gene - OMIM - HGNC]
  • NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • NFATC2IP:nuclear factor of activated T cells 2 interacting protein [Gene - OMIM - HGNC]
  • NFATC3:nuclear factor of activated T cells 3 [Gene - OMIM - HGNC]
  • NFAT5:nuclear factor of activated T cells 5 [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]
  • NPIPB15:nuclear pore complex interacting protein family member B15 [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]
  • NPIPB5:nuclear pore complex interacting protein family member B5 [Gene - HGNC]
  • NPIPB6:nuclear pore complex interacting protein family member B6 [Gene - HGNC]
  • NUPR1:nuclear protein 1, transcriptional regulator [Gene - OMIM - HGNC]
  • NUTF2:nuclear transport factor 2 [Gene - OMIM - HGNC]
  • NIP7:nucleolar pre-rRNA processing protein NIP7 [Gene - OMIM - HGNC]
  • NOL3:nucleolar protein 3 [Gene - OMIM - HGNC]
  • NUP93:nucleoporin 93 [Gene - OMIM - HGNC]
  • NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
  • NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
  • NUDT16L1:nudix hydrolase 16 like 1 [Gene - OMIM - HGNC]
  • NUDT21:nudix hydrolase 21 [Gene - OMIM - HGNC]
  • NUDT7:nudix hydrolase 7 [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]
  • ORC6:origin recognition complex subunit 6 [Gene - OMIM - HGNC]
  • OTOA:otoancorin [Gene - OMIM - HGNC]
  • OSGIN1:oxidative stress induced growth inhibitor 1 [Gene - OMIM - HGNC]
  • PARD6A:par-6 family cell polarity regulator alpha [Gene - OMIM - HGNC]
  • PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
  • PTX4:pentraxin 4 [Gene - OMIM - HGNC]
  • PDF:peptide deformylase, mitochondrial [Gene - OMIM - HGNC]
  • PPL:periplakin [Gene - OMIM - HGNC]
  • PHAF1:phagosome assembly factor 1 [Gene - 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]
  • PLA2G15:phospholipase A2 group XV [Gene - OMIM - HGNC]
  • PLCG2:phospholipase C gamma 2 [Gene - OMIM - HGNC]
  • PMM2:phosphomannomutase 2 [Gene - OMIM - HGNC]
  • PHKG2:phosphorylase kinase catalytic subunit gamma 2 [Gene - OMIM - HGNC]
  • PHKB:phosphorylase kinase regulatory subunit beta [Gene - OMIM - HGNC]
  • PIEZO1:piezo type mechanosensitive ion channel component 1 [Gene - OMIM - HGNC]
  • PLLP:plasmolipin [Gene - OMIM - HGNC]
  • PLEKHG4:pleckstrin homology and RhoGEF domain containing G4 [Gene - OMIM - HGNC]
  • PLK1:polo like kinase 1 [Gene - OMIM - HGNC]
  • PARN:poly(A)-specific ribonuclease [Gene - OMIM - HGNC]
  • PMFBP1:polyamine modulated factor 1 binding protein 1 [Gene - OMIM - HGNC]
  • PKD1L2:polycystin 1 like 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • PKD1L3:polycystin 1 like 3, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • PGAP6:post-GPI attachment to proteins 6 [Gene - OMIM - HGNC]
  • KCTD13:potassium channel tetramerization domain containing 13 [Gene - OMIM - HGNC]
  • KCTD19:potassium channel tetramerization domain containing 19 [Gene - OMIM - HGNC]
  • KCTD5:potassium channel tetramerization domain containing 5 [Gene - OMIM - HGNC]
  • KCNG4:potassium voltage-gated channel modifier subfamily G member 4 [Gene - OMIM - HGNC]
  • PAM16:presequence translocase associated motor 16 [Gene - OMIM - HGNC]
  • PAQR4:progestin and adipoQ receptor family member 4 [Gene - OMIM - HGNC]
  • PRR14:proline rich 14 [Gene - OMIM - HGNC]
  • PRR25:proline rich 25 [Gene - HGNC]
  • PRR35:proline rich 35 [Gene - HGNC]
  • PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
  • PRM1:protamine 1 [Gene - OMIM - HGNC]
  • PRM2:protamine 2 [Gene - OMIM - HGNC]
  • PRM3:protamine 3 [Gene - HGNC]
  • PSMB10:proteasome 20S subunit beta 10 [Gene - OMIM - HGNC]
  • PSMD7:proteasome 26S subunit, non-ATPase 7 [Gene - OMIM - HGNC]
  • PSME3IP1:proteasome activator subunit 3 interacting protein 1 [Gene - OMIM - HGNC]
  • PRMT7:protein arginine methyltransferase 7 [Gene - OMIM - HGNC]
  • PDIA2:protein disulfide isomerase family A member 2 [Gene - OMIM - HGNC]
  • PDILT:protein disulfide isomerase like, testis expressed [Gene - OMIM - HGNC]
  • PRKCB:protein kinase C beta [Gene - OMIM - HGNC]
  • PKMYT1:protein kinase, membrane associated tyrosine/threonine 1 [Gene - OMIM - HGNC]
  • PPP4C:protein phosphatase 4 catalytic subunit [Gene - OMIM - HGNC]
  • PSKH1:protein serine kinase H1 [Gene - OMIM - HGNC]
  • PDXDC1:pyridoxal dependent decarboxylase domain containing 1 [Gene - OMIM - HGNC]
  • PYDC1:pyrin domain containing 1 [Gene - OMIM - HGNC]
  • PDP2:pyruvate dehydrogenase phosphatase catalytic subunit 2 [Gene - OMIM - HGNC]
  • PDPR:pyruvate dehydrogenase phosphatase regulatory subunit [Gene - OMIM - HGNC]
  • QPRT:quinolinate phosphoribosyltransferase [Gene - OMIM - HGNC]
  • RABEP2:rabaptin, RAB GTPase binding effector protein 2 [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]
  • RPL13:ribosomal protein L13 [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]
  • RSPRY1:ring finger and SPRY domain containing 1 [Gene - OMIM - HGNC]
  • RFWD3:ring finger and WD repeat domain 3 [Gene - OMIM - HGNC]
  • RNF151:ring finger protein 151 [Gene - HGNC]
  • RNF166:ring finger protein 166 [Gene - OMIM - HGNC]
  • RNF40:ring finger protein 40 [Gene - OMIM - HGNC]
  • ROGDI:rogdi atypical leucine zipper [Gene - OMIM - HGNC]
  • SRL:sarcalumenin [Gene - OMIM - HGNC]
  • SEZ6L2:seizure related 6 homolog like 2 [Gene - OMIM - HGNC]
  • SEPHS2:selenophosphate synthetase 2 [Gene - OMIM - HGNC]
  • SEPTIN12:septin 12 [Gene - OMIM - HGNC]
  • SEPTIN1:septin 1 [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]
  • PRSS36:serine protease 36 [Gene - OMIM - HGNC]
  • PRSS41:serine protease 41 [Gene - HGNC]
  • PRSS53:serine protease 53 [Gene - OMIM - HGNC]
  • PRSS54:serine protease 54 [Gene - HGNC]
  • PRSS8:serine protease 8 [Gene - OMIM - HGNC]
  • SRRM2:serine/arginine repetitive matrix 2 [Gene - OMIM - HGNC]
  • SHISA9:shisa family member 9 [Gene - OMIM - HGNC]
  • SDR42E1:short chain dehydrogenase/reductase family 42E, member 1 [Gene - OMIM - HGNC]
  • SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
  • SIAH1:siah E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • SPN:sialophorin [Gene - OMIM - 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]
  • SNAI3:snail family transcriptional repressor 3 [Gene - OMIM - HGNC]
  • SCNN1B:sodium channel epithelial 1 subunit beta [Gene - OMIM - HGNC]
  • SCNN1G:sodium channel epithelial 1 subunit gamma [Gene - OMIM - HGNC]
  • SLC12A3:solute carrier family 12 member 3 [Gene - OMIM - HGNC]
  • SLC12A4:solute carrier family 12 member 4 [Gene - OMIM - HGNC]
  • SLC22A31:solute carrier family 22 member 31 [Gene - HGNC]
  • SLC38A7:solute carrier family 38 member 7 [Gene - OMIM - HGNC]
  • SLC38A8:solute carrier family 38 member 8 [Gene - OMIM - HGNC]
  • SLC5A11:solute carrier family 5 member 11 [Gene - OMIM - HGNC]
  • SLC5A2:solute carrier family 5 member 2 [Gene - OMIM - HGNC]
  • SLC6A2:solute carrier family 6 member 2 [Gene - OMIM - HGNC]
  • SLC7A5:solute carrier family 7 member 5 [Gene - OMIM - HGNC]
  • SLC7A6OS:solute carrier family 7 member 6 opposite strand [Gene - OMIM - HGNC]
  • SLC7A6:solute carrier family 7 member 6 [Gene - OMIM - HGNC]
  • SLC9A5:solute carrier family 9 member A5 [Gene - OMIM - HGNC]
  • SSTR5:somatostatin receptor 5 [Gene - OMIM - HGNC]
  • SNX20:sorting nexin 20 [Gene - OMIM - HGNC]
  • SNX29:sorting nexin 29 [Gene - HGNC]
  • SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]
  • SPMIP8:sperm microtubule inner protein 8 [Gene - OMIM - HGNC]
  • SPATA2L:spermatogenesis associated 2 like [Gene - HGNC]
  • SPATA33:spermatogenesis associated 33 [Gene - OMIM - HGNC]
  • SMPD3:sphingomyelin phosphodiesterase 3 [Gene - OMIM - HGNC]
  • SPIRE2:spire type actin nucleation factor 2 [Gene - OMIM - HGNC]
  • SPSB3:splA/ryanodine receptor domain and SOCS box containing 3 [Gene - OMIM - HGNC]
  • SF3B3:splicing factor 3b subunit 3 [Gene - OMIM - HGNC]
  • LOC654780:splicing factor proline/glutamine-rich [Gene]
  • SNN:stannin [Gene - OMIM - HGNC]
  • SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
  • SULT1A2:sulfotransferase family 1A member 2 [Gene - OMIM - HGNC]
  • SULT1A3:sulfotransferase family 1A member 3 [Gene - OMIM - HGNC]
  • SULT1A4:sulfotransferase family 1A member 4 [Gene - OMIM - HGNC]
  • SOCS1:suppressor of cytokine signaling 1 [Gene - OMIM - HGNC]
  • SYNGR3:synaptogyrin 3 [Gene - OMIM - HGNC]
  • SYCE1L:synaptonemal complex central element protein 1 like [Gene - OMIM - HGNC]
  • SYT17:synaptotagmin 17 [Gene - HGNC]
  • STX1B:syntaxin 1B [Gene - OMIM - HGNC]
  • STX4:syntaxin 4 [Gene - OMIM - HGNC]
  • SNTB2:syntrophin beta 2 [Gene - OMIM - HGNC]
  • TEKT5:tektin 5 [Gene - OMIM - HGNC]
  • TELO2:telomere maintenance 2 [Gene - OMIM - HGNC]
  • TERB1:telomere repeat binding bouquet formation protein 1 [Gene - OMIM - HGNC]
  • TERF2:telomeric repeat binding factor 2 [Gene - OMIM - HGNC]
  • TENT4B:terminal nucleotidyltransferase 4B [Gene - OMIM - HGNC]
  • TXNDC11:thioredoxin domain containing 11 [Gene - OMIM - HGNC]
  • TXNL4B:thioredoxin like 4B [Gene - OMIM - HGNC]
  • TK2:thymidine kinase 2 [Gene - OMIM - HGNC]
  • TIGD7:tigger transposable element derived 7 [Gene - OMIM - HGNC]
  • TRAPPC2L:trafficking protein particle complex subunit 2L [Gene - OMIM - HGNC]
  • TVP23A:trans-golgi network vesicle protein 23 homolog A [Gene - HGNC]
  • TCF25:transcription factor 25 [Gene - OMIM - HGNC]
  • TFAP4:transcription factor AP-4 [Gene - OMIM - HGNC]
  • TBL3:transducin beta like 3 [Gene - OMIM - HGNC]
  • TGFB1I1:transforming growth factor beta 1 induced transcript 1 [Gene - OMIM - HGNC]
  • TNP2:transition protein 2 [Gene - OMIM - HGNC]
  • TSNAXIP1:translin associated factor X interacting protein 1 [Gene - OMIM - HGNC]
  • TMC5:transmembrane channel like 5 [Gene - OMIM - HGNC]
  • TMC7:transmembrane channel like 7 [Gene - OMIM - HGNC]
  • TMED6:transmembrane p24 trafficking protein 6 [Gene - HGNC]
  • TMEM114:transmembrane protein 114 [Gene - OMIM - HGNC]
  • TMEM170A:transmembrane protein 170A [Gene - HGNC]
  • TMEM186:transmembrane protein 186 [Gene - OMIM - HGNC]
  • TMEM204:transmembrane protein 204 [Gene - OMIM - HGNC]
  • TMEM208:transmembrane protein 208 [Gene - HGNC]
  • TMEM219:transmembrane protein 219 [Gene - OMIM - HGNC]
  • TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]
  • TANGO6:transport and golgi organization 6 homolog [Gene - OMIM - HGNC]
  • TNRC6A:trinucleotide repeat containing adaptor 6A [Gene - OMIM - HGNC]
  • TRIM72:tripartite motif containing 72 [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]
  • TUBB3:tubulin beta 3 class III [Gene - OMIM - HGNC]
  • TEDC2:tubulin epsilon and delta complex 2 [Gene - HGNC]
  • TPPP3:tubulin polymerization promoting protein family member 3 [Gene - OMIM - HGNC]
  • TAT:tyrosine aminotransferase [Gene - OMIM - HGNC]
  • UBN1:ubinuclein 1 [Gene - OMIM - HGNC]
  • UQCC4:ubiquinol-cytochrome c reductase complex assembly factor 4 [Gene - HGNC]
  • UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
  • UBE2I:ubiquitin conjugating enzyme E2 I [Gene - OMIM - HGNC]
  • UBFD1:ubiquitin family domain containing 1 [Gene - HGNC]
  • USP10:ubiquitin specific peptidase 10 [Gene - OMIM - HGNC]
  • USP31:ubiquitin specific peptidase 31 [Gene - OMIM - HGNC]
  • USP7:ubiquitin specific peptidase 7 [Gene - OMIM - HGNC]
  • LOC101927817:uncharacterized LOC101927817 [Gene]
  • LOC101928417:uncharacterized LOC101928417 [Gene]
  • LOC400541:uncharacterized LOC400541 [Gene]
  • UNKL:unk like zinc finger [Gene - OMIM - HGNC]
  • UMOD:uromodulin [Gene - OMIM - HGNC]
  • VPS4A:vacuolar protein sorting 4 homolog A [Gene - OMIM - HGNC]
  • VASN:vasorin [Gene - OMIM - HGNC]
  • VAT1L:vesicle amine transport 1 like [Gene - OMIM - HGNC]
  • VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]
  • VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
  • XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]
  • YPEL3:yippee like 3 [Gene - OMIM - HGNC]
  • ZNRF1:zinc and ring finger 1 [Gene - OMIM - HGNC]
  • ZC3H18:zinc finger CCCH-type containing 18 [Gene - HGNC]
  • ZC3H7A:zinc finger CCCH-type containing 7A [Gene - OMIM - HGNC]
  • ZCCHC14:zinc finger CCHC-type containing 14 [Gene - HGNC]
  • ZDHHC1:zinc finger DHHC-type containing 1 [Gene - HGNC]
  • ZDHHC7:zinc finger DHHC-type palmitoyltransferase 7 [Gene - OMIM - HGNC]
  • ZSCAN10:zinc finger and SCAN domain containing 10 [Gene - OMIM - HGNC]
  • ZSCAN32:zinc finger and SCAN domain containing 32 [Gene - HGNC]
  • ZFHX3:zinc finger homeobox 3 [Gene - OMIM - HGNC]
  • ZNF174:zinc finger protein 174 [Gene - OMIM - HGNC]
  • ZNF19:zinc finger protein 19 [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]
  • ZNF23:zinc finger protein 23 [Gene - OMIM - HGNC]
  • ZNF263:zinc finger protein 263 [Gene - OMIM - HGNC]
  • ZNF267:zinc finger protein 267 [Gene - OMIM - HGNC]
  • ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]
  • ZNF319:zinc finger protein 319 [Gene - HGNC]
  • ZNF423:zinc finger protein 423 [Gene - OMIM - HGNC]
  • ZNF469:zinc finger protein 469 [Gene - OMIM - HGNC]
  • ZNF48:zinc finger protein 48 [Gene - 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]
  • ZNF629:zinc finger protein 629 [Gene - OMIM - HGNC]
  • ZNF646:zinc finger protein 646 [Gene - OMIM - HGNC]
  • ZNF668:zinc finger protein 668 [Gene - OMIM - HGNC]
  • ZNF688:zinc finger protein 688 [Gene - HGNC]
  • ZNF689:zinc finger protein 689 [Gene - OMIM - HGNC]
  • ZNF747:zinc finger protein 747 [Gene - HGNC]
  • ZNF75A:zinc finger protein 75A [Gene - OMIM - HGNC]
  • ZNF764:zinc finger protein 764 [Gene - OMIM - HGNC]
  • ZNF768:zinc finger protein 768 [Gene - OMIM - HGNC]
  • ZNF771:zinc finger protein 771 [Gene - HGNC]
  • ZNF778:zinc finger protein 778 [Gene - HGNC]
  • ZNF785:zinc finger protein 785 [Gene - HGNC]
  • ZNF821:zinc finger protein 821 [Gene - HGNC]
  • ZNF843:zinc finger protein 843 [Gene - HGNC]
  • ZFPM1:zinc finger protein, FOG family member 1 [Gene - OMIM - HGNC]
  • ZKSCAN2:zinc finger with KRAB and SCAN domains 2 [Gene - HGNC]
  • ZP2:zona pellucida glycoprotein 2 [Gene - OMIM - HGNC]
  • ZG16:zymogen granule protein 16 [Gene - OMIM - HGNC]
  • ZG16B:zymogen granule protein 16B [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p13.3-q24.3
Genomic location:
Chr16: 85881 - 90155062 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3
HGVS:
    Links:
    dbVar: nssv13651804; dbVar: nsv2777010
    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
    SCV000585797ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Dec 2, 2014)     		not providedclinical 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, SCV000585797.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Jul 22, 2023