- delete
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2013
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000738915.2
Allele description
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)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: 61451 - 90294632 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3
- HGVS:
- This HGVS expression did not pass validation
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000867251 | Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center | no assertion criteria provided | Pathogenic (Jan 1, 2013) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000867251.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing (GTR000295241.2) | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | blood | not provided | (GTR000295241.2) | not provided | not provided | not provided | not provided |
Last Updated: Jul 22, 2023