GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 20, 2016
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV000240081.2
Allele description [Variation Report for GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3]
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3
- Genes:
- AGPAT2:1-acylglycerol-3-phosphate O-acyltransferase 2 [Gene - OMIM - HGNC]
- HACD4:3-hydroxyacyl-CoA dehydratase 4 [Gene - OMIM - HGNC]
- ABL1:ABL proto-oncogene 1, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
- ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
- ADAMTS13:ADAM metallopeptidase with thrombospondin type 1 motif 13 [Gene - OMIM - HGNC]
- ADAMTSL1:ADAMTS like 1 [Gene - OMIM - HGNC]
- ADAMTSL2:ADAMTS like 2 [Gene - OMIM - HGNC]
- ALG2:ALG2 alpha-1,3/1,6-mannosyltransferase [Gene - OMIM - HGNC]
- AKNA:AT-hook transcription factor [Gene - OMIM - HGNC]
- ARID3C:AT-rich interaction domain 3C [Gene - OMIM - HGNC]
- ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
- ABCA2:ATP binding cassette subfamily A member 2 [Gene - OMIM - HGNC]
- AGTPBP1:ATP/GTP binding carboxypeptidase 1 [Gene - OMIM - HGNC]
- ATP6V1G1:ATPase H+ transporting V1 subunit G1 [Gene - OMIM - HGNC]
- AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]
- BSPRY:B-box and SPRY domain containing [Gene - OMIM - HGNC]
- BAG1:BAG cochaperone 1 [Gene - OMIM - HGNC]
- BARX1:BARX homeobox 1 [Gene - OMIM - HGNC]
- BICD2:BICD cargo adaptor 2 [Gene - OMIM - HGNC]
- BRINP1:BMP/retinoic acid inducible neural specific 1 [Gene - OMIM - HGNC]
- BANCR:BRAF-activated non-protein coding RNA [Gene - OMIM - HGNC]
- BARHL1:BarH like homeobox 1 [Gene - OMIM - HGNC]
- CCL19:C-C motif chemokine ligand 19 [Gene - OMIM - HGNC]
- CCL21:C-C motif chemokine ligand 21 [Gene - OMIM - HGNC]
- CCL27:C-C motif chemokine ligand 27 [Gene - OMIM - HGNC]
- C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
- CARNMT1-AS1:CARNMT1 antisense RNA 1 [Gene - HGNC]
- CD274:CD274 molecule [Gene - OMIM - HGNC]
- CD72:CD72 molecule [Gene - OMIM - HGNC]
- CKS2:CDC28 protein kinase regulatory subunit 2 [Gene - OMIM - HGNC]
- CDK5RAP2:CDK5 regulatory subunit associated protein 2 [Gene - OMIM - HGNC]
- CIZ1:CDKN1A interacting zinc finger protein 1 [Gene - OMIM - HGNC]
- CDKN2B-AS1:CDKN2B antisense RNA 1 [Gene - OMIM - HGNC]
- DAB2IP:DAB2 interacting protein [Gene - OMIM - HGNC]
- DAPK1-IT1:DAPK1 intronic transcript 1 [Gene - HGNC]
- DCAF10:DDB1 and CUL4 associated factor 10 [Gene - OMIM - HGNC]
- DCAF12:DDB1 and CUL4 associated factor 12 [Gene - OMIM - HGNC]
- DDX31:DEAD-box helicase 31 [Gene - OMIM - HGNC]
- DENND1A:DENN domain containing 1A [Gene - OMIM - HGNC]
- DENND4C:DENN domain containing 4C [Gene - HGNC]
- DIRAS2:DIRAS family GTPase 2 [Gene - OMIM - HGNC]
- DMRTA1:DMRT like family A1 [Gene - OMIM - HGNC]
- POLE3:DNA polymerase epsilon 3, accessory subunit [Gene - OMIM - HGNC]
- DNAJC25-GNG10:DNAJC25-GNG10 readthrough [Gene - HGNC]
- DNLZ:DNL-type zinc finger [Gene - OMIM - HGNC]
- DOCK8-AS1:DOCK8 antisense RNA 1 [Gene - HGNC]
- DNAJA1:DnaJ heat shock protein family (Hsp40) member A1 [Gene - OMIM - HGNC]
- DNAJB5:DnaJ heat shock protein family (Hsp40) member B5 [Gene - OMIM - HGNC]
- DNAJC25:DnaJ heat shock protein family (Hsp40) member C25 [Gene - HGNC]
- EGFL7:EGF like domain multiple 7 [Gene - OMIM - HGNC]
- ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
- ERCC6L2:ERCC excision repair 6 like 2 [Gene - OMIM - HGNC]
- ECPAS:Ecm29 proteasome adaptor and scaffold [Gene - OMIM - HGNC]
- FBXW2:F-box and WD repeat domain containing 2 [Gene - OMIM - HGNC]
- FBXW5:F-box and WD repeat domain containing 5 [Gene - OMIM - HGNC]
- FBXO10:F-box protein 10 [Gene - OMIM - HGNC]
- FANCC:FA complementation group C [Gene - OMIM - HGNC]
- FANCG:FA complementation group G [Gene - OMIM - HGNC]
- FRMPD1:FERM and PDZ domain containing 1 [Gene - OMIM - HGNC]
- FRMD3:FERM domain containing 3 [Gene - OMIM - HGNC]
- FKBP15:FKBP prolyl isomerase family member 15 [Gene - OMIM - HGNC]
- FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
- FGD3:FYVE, RhoGEF and PH domain containing 3 [Gene - OMIM - HGNC]
- GKAP1:G kinase anchoring protein 1 [Gene - OMIM - HGNC]
- GPSM1:G protein signaling modulator 1 [Gene - OMIM - HGNC]
- GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
- GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
- GNG10:G protein subunit gamma 10 [Gene - OMIM - HGNC]
- GPR107:G protein-coupled receptor 107 [Gene - OMIM - HGNC]
- GPR21:G protein-coupled receptor 21 [Gene - OMIM - HGNC]
- GLE1:GLE1 RNA export mediator [Gene - OMIM - HGNC]
- GLIPR2:GLI pathogenesis related 2 [Gene - OMIM - HGNC]
- GLIS3:GLIS family zinc finger 3 [Gene - OMIM - HGNC]
- GARNL3:GTPase activating Rap/RanGAP domain like 3 [Gene - HGNC]
- GAPVD1:GTPase activating protein and VPS9 domains 1 [Gene - OMIM - HGNC]
- HAUS6:HAUS augmin like complex subunit 6 [Gene - OMIM - HGNC]
- IDNK:IDNK gluconokinase [Gene - OMIM - HGNC]
- INIP:INTS3 and NABP interacting protein [Gene - OMIM - HGNC]
- IZUMO3:IZUMO family member 3 [Gene - OMIM - HGNC]
- JAK2:Janus kinase 2 [Gene - OMIM - HGNC]
- KIAA1958:KIAA1958 [Gene - OMIM - HGNC]
- KLF4:KLF transcription factor 4 [Gene - OMIM - HGNC]
- KLF9:KLF transcription factor 9 [Gene - OMIM - HGNC]
- KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
- LHX2:LIM homeobox 2 [Gene - OMIM - HGNC]
- LHX3:LIM homeobox 3 [Gene - OMIM - HGNC]
- LHX6:LIM homeobox 6 [Gene - OMIM - HGNC]
- LMX1B:LIM homeobox transcription factor 1 beta [Gene - OMIM - HGNC]
- MAMDC2:MAM domain containing 2 [Gene - OMIM - HGNC]
- MAMDC4:MAM domain containing 4 [Gene - OMIM - HGNC]
- MAPKAP1:MAPK associated protein 1 [Gene - OMIM - HGNC]
- MIR181A2HG:MIR181A2 host gene [Gene - HGNC]
- MLLT3:MLLT3 super elongation complex subunit [Gene - OMIM - HGNC]
- MOB3B:MOB kinase activator 3B [Gene - OMIM - HGNC]
- MORN5:MORN repeat containing 5 [Gene - OMIM - HGNC]
- MSANTD3-TMEFF1:MSANTD3-TMEFF1 readthrough [Gene - HGNC]
- MSANTD3:Myb/SANT DNA binding domain containing 3 [Gene - HGNC]
- NANS:N-acetylneuraminate synthase [Gene - OMIM - HGNC]
- NAA35:N-alpha-acetyltransferase 35, NatC auxiliary subunit [Gene - OMIM - HGNC]
- NTMT1:N-terminal Xaa-Pro-Lys N-methyltransferase 1 [Gene - OMIM - HGNC]
- NACC2:NACC family member 2 [Gene - OMIM - HGNC]
- NDUFA8:NADH:ubiquinone oxidoreductase subunit A8 [Gene - OMIM - HGNC]
- NDUFB6:NADH:ubiquinone oxidoreductase subunit B6 [Gene - OMIM - HGNC]
- NDOR1:NADPH dependent diflavin oxidoreductase 1 [Gene - OMIM - HGNC]
- NOXA1:NADPH oxidase activator 1 [Gene - OMIM - HGNC]
- NEK6:NIMA related kinase 6 [Gene - OMIM - HGNC]
- NSMF:NMDA receptor synaptonuclear signaling and neuronal migration factor [Gene - OMIM - HGNC]
- NRARP:NOTCH regulated ankyrin repeat protein [Gene - OMIM - HGNC]
- NUTM2F:NUT family member 2F [Gene - HGNC]
- NUTM2G:NUT family member 2G [Gene - HGNC]
- PALM2AKAP2:PALM2 and AKAP2 fusion [Gene - OMIM - HGNC]
- PAPPA-AS1:PAPPA antisense RNA 1 [Gene - OMIM - HGNC]
- PAXX:PAXX non-homologous end joining factor [Gene - OMIM - HGNC]
- PBX3:PBX homeobox 3 [Gene - OMIM - HGNC]
- PSIP1:PC4 and SRSF1 interacting protein 1 [Gene - OMIM - HGNC]
- PHF19:PHD finger protein 19 [Gene - OMIM - HGNC]
- PHF24:PHD finger protein 24 [Gene - OMIM - HGNC]
- PHF2:PHD finger protein 2 [Gene - OMIM - HGNC]
- PABIR1:PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [Gene - OMIM - HGNC]
- PRDM12:PR/SET domain 12 [Gene - OMIM - HGNC]
- QNG1:Q-nucleotide N-glycosylase 1 [Gene - OMIM - HGNC]
- RABGAP1:RAB GTPase activating protein 1 [Gene - OMIM - HGNC]
- RABL6:RAB, member RAS oncogene family like 6 [Gene - OMIM - HGNC]
- RAB14:RAB14, member RAS oncogene family [Gene - OMIM - HGNC]
- RAD23B:RAD23 homolog B, nucleotide excision repair protein [Gene - OMIM - HGNC]
- RANBP6:RAN binding protein 6 [Gene - HGNC]
- RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
- RASEF:RAS and EF-hand domain containing [Gene - OMIM - HGNC]
- REXO4:REX4 homolog, 3'-5' exonuclease [Gene - OMIM - HGNC]
- RGP1:RGP1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
- RIC1:RIC1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
- RBM18:RNA binding motif protein 18 [Gene - HGNC]
- RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
- POLR1E:RNA polymerase I subunit E [Gene - HGNC]
- RIGI:RNA sensor RIG-I [Gene - OMIM - HGNC]
- RCL1:RNA terminal phosphate cyclase like 1 [Gene - OMIM - HGNC]
- RNU6ATAC:RNA, U6atac small nuclear [Gene - OMIM - HGNC]
- RUSC2:RUN and SH3 domain containing 2 [Gene - OMIM - HGNC]
- RABEPK:Rab9 effector protein with kelch motifs [Gene - OMIM - HGNC]
- RALGPS1:Ral GEF with PH domain and SH3 binding motif 1 [Gene - OMIM - HGNC]
- RAPGEF1:Rap guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
- RRAGA:Ras related GTP binding A [Gene - OMIM - HGNC]
- RMI1:RecQ mediated genome instability 1 [Gene - OMIM - HGNC]
- ARHGEF39:Rho guanine nucleotide exchange factor 39 [Gene - HGNC]
- SEC16A:SEC16 homolog A, endoplasmic reticulum export factor [Gene - OMIM - HGNC]
- SEC61B:SEC61 translocon subunit beta [Gene - OMIM - HGNC]
- SECISBP2:SECIS binding protein 2 [Gene - OMIM - HGNC]
- SET:SET nuclear proto-oncogene [Gene - OMIM - HGNC]
- SH2D3C:SH2 domain containing 3C [Gene - OMIM - HGNC]
- SHB:SH2 domain containing adaptor protein B [Gene - OMIM - HGNC]
- SH3GL2:SH3 domain containing GRB2 like 2, endophilin A1 [Gene - OMIM - HGNC]
- SH3GLB2:SH3 domain containing GRB2 like, endophilin B2 [Gene - OMIM - HGNC]
- SHC3:SHC adaptor protein 3 [Gene - OMIM - HGNC]
- SMU1:SMU1 DNA replication regulator and spliceosomal factor [Gene - OMIM - HGNC]
- SPATA31A1:SPATA31 subfamily A member 1 [Gene - HGNC]
- SPATA31A3:SPATA31 subfamily A member 3 [Gene - HGNC]
- SPATA31A5:SPATA31 subfamily A member 5 [Gene - HGNC]
- SPATA31A6:SPATA31 subfamily A member 6 [Gene - HGNC]
- SPATA31A7:SPATA31 subfamily A member 7 [Gene - OMIM - HGNC]
- SPATA31C1:SPATA31 subfamily C member 1 [Gene - HGNC]
- SPATA31C2:SPATA31 subfamily C member 2 [Gene - HGNC]
- SPATA31D1:SPATA31 subfamily D member 1 [Gene - HGNC]
- SPATA31D3:SPATA31 subfamily D member 3 [Gene - HGNC]
- SPATA31D4:SPATA31 subfamily D member 4 [Gene - HGNC]
- SPATA31E1:SPATA31 subfamily E member 1 [Gene - HGNC]
- SPATA31F1:SPATA31 subfamily F member 1 [Gene - HGNC]
- SPATA31G1:SPATA31 subfamily G member 1 [Gene - HGNC]
- SPOUT1:SPOUT domain containing methyltransferase 1 [Gene - OMIM - HGNC]
- SSNA1:SS nuclear autoantigen 1 [Gene - OMIM - HGNC]
- ST6GALNAC4:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 [Gene - OMIM - HGNC]
- ST6GALNAC6:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 [Gene - OMIM - HGNC]
- SURF1:SURF1 cytochrome c oxidase assembly factor [Gene - OMIM - HGNC]
- SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]
- SWI5:SWI5 homologous recombination repair protein [Gene - OMIM - HGNC]
- TAL2:TAL bHLH transcription factor 2 [Gene - OMIM - HGNC]
- TAF1L:TATA-box binding protein associated factor 1 like [Gene - OMIM - HGNC]
- TBC1D13:TBC1 domain family member 13 [Gene - OMIM - HGNC]
- TBC1D2:TBC1 domain family member 2 [Gene - OMIM - HGNC]
- TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
- TLE1:TLE family member 1, transcriptional corepressor [Gene - OMIM - HGNC]
- TLE4:TLE family member 4, transcriptional corepressor [Gene - OMIM - HGNC]
- TRAF1:TNF receptor associated factor 1 [Gene - OMIM - HGNC]
- TRAF2:TNF receptor associated factor 2 [Gene - OMIM - HGNC]
- TNFSF15:TNF superfamily member 15 [Gene - OMIM - HGNC]
- TNFSF8:TNF superfamily member 8 [Gene - OMIM - HGNC]
- TOPORS:TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Gene - OMIM - HGNC]
- TPD52L3:TPD52 like 3 [Gene - OMIM - HGNC]
- TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]
- TRUB2:TruB pseudouridine synthase family member 2 [Gene - OMIM - HGNC]
- UBAC1:UBA domain containing 1 [Gene - OMIM - HGNC]
- UAP1L1:UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 [Gene - HGNC]
- UGCG:UDP-glucose ceramide glucosyltransferase [Gene - OMIM - HGNC]
- WDR31:WD repeat domain 31 [Gene - HGNC]
- WDR38:WD repeat domain 38 [Gene - HGNC]
- WDR5:WD repeat domain 5 [Gene - OMIM - HGNC]
- WNK2:WNK lysine deficient protein kinase 2 [Gene - OMIM - HGNC]
- XPA:XPA, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
- ZFP37:ZFP37 zinc finger protein [Gene - OMIM - HGNC]
- ZNG1A:Zn regulated GTPase metalloprotein activator 1A [Gene - OMIM - HGNC]
- ZNG1C:Zn regulated GTPase metalloprotein activator 1C [Gene - OMIM - HGNC]
- ZNG1E:Zn regulated GTPase metalloprotein activator 1E [Gene - HGNC]
- ZNG1F:Zn regulated GTPase metalloprotein activator 1F [Gene - HGNC]
- ABHD17B:abhydrolase domain containing 17B, depalmitoylase [Gene - OMIM - HGNC]
- ANP32B:acidic nuclear phosphoprotein 32 family member B [Gene - OMIM - HGNC]
- ACO1:aconitase 1 [Gene - OMIM - HGNC]
- ABITRAM:actin binding transcription modulator [Gene - OMIM - HGNC]
- ACTL7A:actin like 7A [Gene - OMIM - HGNC]
- ACTL7B:actin like 7B [Gene - OMIM - HGNC]
- ARPC5L:actin related protein 2/3 complex subunit 5 like [Gene - HGNC]
- AK1:adenylate kinase 1 [Gene - OMIM - HGNC]
- AK3:adenylate kinase 3 [Gene - OMIM - HGNC]
- AK8:adenylate kinase 8 [Gene - OMIM - HGNC]
- ADGRD2:adhesion G protein-coupled receptor D2 [Gene - OMIM - HGNC]
- ALDH1A1:aldehyde dehydrogenase 1 family member A1 [Gene - OMIM - HGNC]
- ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
- ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]
- ACER2:alkaline ceramidase 2 [Gene - OMIM - HGNC]
- AIF1L:allograft inflammatory factor 1 like [Gene - HGNC]
- AMBP:alpha-1-microglobulin/bikunin precursor [Gene - OMIM - HGNC]
- ALAD:aminolevulinate dehydratase [Gene - OMIM - HGNC]
- AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
- APBA1:amyloid beta precursor protein binding family A member 1 [Gene - OMIM - HGNC]
- ANAPC2:anaphase promoting complex subunit 2 [Gene - OMIM - HGNC]
- ANGPTL2:angiopoietin like 2 [Gene - OMIM - HGNC]
- ASB6:ankyrin repeat and SOCS box containing 6 [Gene - OMIM - HGNC]
- ANKS6:ankyrin repeat and sterile alpha motif domain containing 6 [Gene - OMIM - HGNC]
- ANKRD18A:ankyrin repeat domain 18A [Gene - OMIM - HGNC]
- ANKRD18B:ankyrin repeat domain 18B [Gene - OMIM - HGNC]
- ANKRD20A1:ankyrin repeat domain 20 family member A1 [Gene - HGNC]
- ANXA1:annexin A1 [Gene - OMIM - HGNC]
- AJM1:apical junction component 1 homolog [Gene - HGNC]
- APTX:aprataxin [Gene - OMIM - HGNC]
- AQP3:aquaporin 3 (Gill blood group) [Gene - OMIM - HGNC]
- AQP7:aquaporin 7 [Gene - OMIM - HGNC]
- ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]
- ARRDC1:arrestin domain containing 1 [Gene - OMIM - HGNC]
- ASPN:asporin [Gene - OMIM - HGNC]
- ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
- ATOSB:atos homolog B [Gene - OMIM - HGNC]
- BNC2:basonuclin zinc finger protein 2 [Gene - OMIM - HGNC]
- B4GALT1:beta-1,4-galactosyltransferase 1 [Gene - OMIM - HGNC]
- BAAT:bile acid-CoA:amino acid N-acyltransferase [Gene - OMIM - HGNC]
- BRD10:bromodomain containing 10 [Gene - HGNC]
- BRD3:bromodomain containing 3 [Gene - OMIM - HGNC]
- BBLN:bublin coiled coil protein [Gene - HGNC]
- CREB3:cAMP responsive element binding protein 3 [Gene - OMIM - HGNC]
- CACFD1:calcium channel flower domain containing 1 [Gene - OMIM - HGNC]
- CACNA1B:calcium voltage-gated channel subunit alpha1 B [Gene - OMIM - HGNC]
- CCIN:calicin [Gene - OMIM - HGNC]
- CAMSAP1:calmodulin regulated spectrin associated protein 1 [Gene - OMIM - HGNC]
- CA9:carbonic anhydrase 9 [Gene - OMIM - HGNC]
- CEL:carboxyl ester lipase [Gene - OMIM - HGNC]
- CRAT:carnitine O-acetyltransferase [Gene - OMIM - HGNC]
- CARNMT1:carnosine N-methyltransferase 1 [Gene - OMIM - HGNC]
- CAAP1:caspase activity and apoptosis inhibitor 1 [Gene - HGNC]
- CARD19:caspase recruitment domain family member 19 [Gene - OMIM - HGNC]
- CARD9:caspase recruitment domain family member 9 [Gene - OMIM - HGNC]
- CTNNAL1:catenin alpha like 1 [Gene - OMIM - HGNC]
- CTSL:cathepsin L [Gene - OMIM - HGNC]
- CTSV:cathepsin V [Gene - OMIM - HGNC]
- CAVIN4:caveolae associated protein 4 [Gene - OMIM - HGNC]
- CDC14B:cell division cycle 14B [Gene - OMIM - HGNC]
- CDC26:cell division cycle 26 [Gene - OMIM - HGNC]
- CDC37L1:cell division cycle 37 like 1, HSP90 cochaperone [Gene - OMIM - HGNC]
- CEMIP2:cell migration inducing hyaluronidase 2 [Gene - OMIM - HGNC]
- CNTLN:centlein [Gene - OMIM - HGNC]
- CNTRL:centriolin [Gene - OMIM - HGNC]
- CENPP:centromere protein P [Gene - OMIM - HGNC]
- CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
- CER1:cerberus 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
- CERCAM:cerebral endothelial cell adhesion molecule [Gene - OMIM - HGNC]
- CHMP5:charged multivesicular body protein 5 [Gene - OMIM - HGNC]
- CLIC3:chloride intracellular channel 3 [Gene - OMIM - HGNC]
- C9orf152:chromosome 9 open reading frame 152 [Gene - HGNC]
- C9orf153:chromosome 9 open reading frame 153 [Gene - HGNC]
- C9orf40:chromosome 9 open reading frame 40 [Gene - HGNC]
- C9orf43:chromosome 9 open reading frame 43 [Gene - HGNC]
- C9orf47:chromosome 9 open reading frame 47 [Gene - HGNC]
- C9orf50:chromosome 9 open reading frame 50 [Gene - HGNC]
- C9orf57:chromosome 9 open reading frame 57 [Gene - HGNC]
- C9orf78:chromosome 9 open reading frame 78 [Gene - OMIM - HGNC]
- C9orf85:chromosome 9 open reading frame 85 [Gene - OMIM - HGNC]
- C9orf163:chromosome 9 putative open reading frame 163 [Gene - HGNC]
- CFAP157:cilia and flagella associated protein 157 [Gene - HGNC]
- CFAP77:cilia and flagella associated protein 77 [Gene - HGNC]
- CFAP95:cilia and flagella associated protein 95 [Gene - HGNC]
- CIMIP2A:ciliary microtubule inner protein 2A [Gene - HGNC]
- CIMIP2B:ciliary microtubule inner protein 2B [Gene - HGNC]
- CNTFR:ciliary neurotrophic factor receptor [Gene - OMIM - HGNC]
- CLTA:clathrin light chain A [Gene - OMIM - HGNC]
- COQ4:coenzyme Q4 [Gene - OMIM - HGNC]
- CCDC107:coiled-coil domain containing 107 [Gene - HGNC]
- CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
- CCDC180:coiled-coil domain containing 180 [Gene - HGNC]
- CCDC183:coiled-coil domain containing 183 [Gene - OMIM - HGNC]
- COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
- COL15A1:collagen type XV alpha 1 chain [Gene - OMIM - HGNC]
- COL27A1:collagen type XXVII alpha 1 chain [Gene - OMIM - HGNC]
- C5:complement C5 [Gene - OMIM - HGNC]
- C8G:complement C8 gamma chain [Gene - OMIM - HGNC]
- CNTNAP3:contactin associated protein family member 3 [Gene - OMIM - HGNC]
- CNTNAP3B:contactin associated protein family member 3B [Gene - HGNC]
- CORO2A:coronin 2A [Gene - OMIM - HGNC]
- CRB2:crumbs cell polarity complex component 2 [Gene - OMIM - HGNC]
- CDK20:cyclin dependent kinase 20 [Gene - OMIM - HGNC]
- CDK9:cyclin dependent kinase 9 [Gene - OMIM - HGNC]
- CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
- CDKN2B:cyclin dependent kinase inhibitor 2B [Gene - OMIM - HGNC]
- CYLC2:cylicin 2 [Gene - OMIM - HGNC]
- CYSRT1:cysteine rich tail 1 [Gene - HGNC]
- DAPK1:death associated protein kinase 1 [Gene - OMIM - HGNC]
- DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
- DELEC1:deleted in esophageal cancer 1 [Gene - OMIM - HGNC]
- DPP7:dipeptidyl peptidase 7 [Gene - OMIM - HGNC]
- DPH7:diphthamide biosynthesis 7 [Gene - OMIM - HGNC]
- DMAC1:distal membrane arm assembly component 1 [Gene - OMIM - HGNC]
- DIPK1B:divergent protein kinase domain 1B [Gene - OMIM - HGNC]
- DOLK:dolichol kinase [Gene - OMIM - HGNC]
- DPM2:dolichyl-phosphate mannosyltransferase subunit 2, regulatory [Gene - OMIM - HGNC]
- DOLPP1:dolichyldiphosphatase 1 [Gene - OMIM - HGNC]
- DBH:dopamine beta-hydroxylase [Gene - OMIM - HGNC]
- DMRT1:doublesex and mab-3 related transcription factor 1 [Gene - OMIM - HGNC]
- DMRT2:doublesex and mab-3 related transcription factor 2 [Gene - OMIM - HGNC]
- DMRT3:doublesex and mab-3 related transcription factor 3 [Gene - OMIM - HGNC]
- DCTN3:dynactin subunit 3 [Gene - OMIM - HGNC]
- DNM1:dynamin 1 [Gene - OMIM - HGNC]
- DYNC2I2:dynein 2 intermediate chain 2 [Gene - OMIM - HGNC]
- DNAI1:dynein axonemal intermediate chain 1 [Gene - OMIM - HGNC]
- ENTPD2:ectonucleoside triphosphate diphosphohydrolase 2 [Gene - OMIM - HGNC]
- ENTPD8:ectonucleoside triphosphate diphosphohydrolase 8 [Gene - OMIM - HGNC]
- ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]
- ENG:endoglin [Gene - OMIM - HGNC]
- ENDOG:endonuclease G [Gene - OMIM - HGNC]
- ERMP1:endoplasmic reticulum metallopeptidase 1 [Gene - OMIM - HGNC]
- ERP44:endoplasmic reticulum protein 44 [Gene - OMIM - HGNC]
- ENTREP1:endosomal transmembrane epsin interactor 1 [Gene - OMIM - HGNC]
- ENTR1:endosome associated trafficking regulator 1 [Gene - OMIM - HGNC]
- EDF1:endothelial differentiation related factor 1 [Gene - OMIM - HGNC]
- ENHO:energy homeostasis associated [Gene - OMIM - HGNC]
- EQTN:equatorin [Gene - OMIM - HGNC]
- EPB41L4B:erythrocyte membrane protein band 4.1 like 4B [Gene - OMIM - HGNC]
- EEIG1:estrogen-induced osteoclastogenesis regulator 1 [Gene - OMIM - HGNC]
- EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]
- EXD3:exonuclease 3'-5' domain containing 3 [Gene - OMIM - HGNC]
- EXOSC2:exosome component 2 [Gene - OMIM - HGNC]
- EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
- ECM2:extracellular matrix protein 2 [Gene - OMIM - HGNC]
- FAM120AOS:family with sequence similarity 120 member A opposite strand [Gene - HGNC]
- FAM120A:family with sequence similarity 120 member A [Gene - OMIM - HGNC]
- FAM157B:family with sequence similarity 157 member B [Gene - HGNC]
- FAM163B:family with sequence similarity 163 member B [Gene - HGNC]
- FAM219A:family with sequence similarity 219 member A [Gene - HGNC]
- FAM221B:family with sequence similarity 221 member B [Gene - HGNC]
- FAM27D1:family with sequence similarity 27 member D1 [Gene - HGNC]
- FAM78A:family with sequence similarity 78 member A [Gene - HGNC]
- FUBP3:far upstream element binding protein 3 [Gene - OMIM - HGNC]
- FRRS1L:ferric chelate reductase 1 like [Gene - OMIM - HGNC]
- FIBCD1:fibrinogen C domain containing 1 [Gene - OMIM - HGNC]
- FSD1L:fibronectin type III and SPRY domain containing 1 like [Gene - OMIM - HGNC]
- FCN1:ficolin 1 [Gene - OMIM - HGNC]
- FCN2:ficolin 2 [Gene - OMIM - HGNC]
- FOCAD:focadhesin [Gene - OMIM - HGNC]
- FPGS:folylpolyglutamate synthase [Gene - OMIM - HGNC]
- FOXB2:forkhead box B2 [Gene - OMIM - HGNC]
- FOXD4L3:forkhead box D4 like 3 [Gene - OMIM - HGNC]
- FOXD4L4:forkhead box D4 like 4 [Gene - OMIM - HGNC]
- FOXD4L5:forkhead box D4 like 5 [Gene - HGNC]
- FOXD4L6:forkhead box D4 like 6 [Gene - HGNC]
- FOXE1:forkhead box E1 [Gene - OMIM - HGNC]
- FNBP1:formin binding protein 1 [Gene - OMIM - HGNC]
- FXN:frataxin [Gene - OMIM - HGNC]
- FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
- FBP2:fructose-bisphosphatase 2 [Gene - OMIM - HGNC]
- FUT7:fucosyltransferase 7 [Gene - OMIM - HGNC]
- FKTN:fukutin [Gene - OMIM - HGNC]
- GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
- GABBR2:gamma-aminobutyric acid type B receptor subunit 2 [Gene - OMIM - HGNC]
- GSN:gelsolin [Gene - OMIM - HGNC]
- GTF3C4:general transcription factor IIIC subunit 4 [Gene - OMIM - HGNC]
- GTF3C5:general transcription factor IIIC subunit 5 [Gene - OMIM - HGNC]
- GBGT1:globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) [Gene - OMIM - HGNC]
- GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
- GCNT1:glucosaminyl (N-acetyl) transferase 1 [Gene - OMIM - HGNC]
- GBA2:glucosylceramidase beta 2 [Gene - OMIM - HGNC]
- GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]
- GRIN3A:glutamate ionotropic receptor NMDA type subunit 3A [Gene - OMIM - HGNC]
- GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
- GLT6D1:glycosyltransferase 6 domain containing 1 [Gene - OMIM - HGNC]
- GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
- GOLM1:golgi membrane protein 1 [Gene - OMIM - HGNC]
- GOLGA1:golgin A1 [Gene - OMIM - HGNC]
- GOLGA2:golgin A2 [Gene - OMIM - HGNC]
- GADD45G:growth arrest and DNA damage inducible gamma [Gene - OMIM - HGNC]
- GAS1:growth arrest specific 1 [Gene - OMIM - HGNC]
- GFI1B:growth factor independent 1B transcriptional repressor [Gene - OMIM - HGNC]
- GDA:guanine deaminase [Gene - OMIM - HGNC]
- HDHD3:haloacid dehalogenase like hydrolase domain containing 3 [Gene - HGNC]
- HSPA5:heat shock protein family A (Hsp70) member 5 [Gene - OMIM - HGNC]
- HMCN2:hemicentin 2 [Gene - HGNC]
- HEMGN:hemogen [Gene - OMIM - HGNC]
- HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]
- HRCT1:histidine rich carboxyl terminus 1 [Gene - HGNC]
- HINT2:histidine triad nucleotide binding protein 2 [Gene - OMIM - HGNC]
- HABP4:hyaluronan binding protein 4 [Gene - OMIM - HGNC]
- HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]
- HSDL2:hydroxysteroid dehydrogenase like 2 [Gene - HGNC]
- IER5L:immediate early response 5 like [Gene - HGNC]
- INPP5E:inositol polyphosphate-5-phosphatase E [Gene - OMIM - HGNC]
- IPPK:inositol-pentakisphosphate 2-kinase [Gene - OMIM - HGNC]
- INSL4:insulin like 4 [Gene - OMIM - HGNC]
- INSL6:insulin like 6 [Gene - OMIM - HGNC]
- IGFBPL1:insulin like growth factor binding protein like 1 [Gene - OMIM - HGNC]
- IFNA10:interferon alpha 10 [Gene - OMIM - HGNC]
- IFNA13:interferon alpha 13 [Gene - OMIM - HGNC]
- IFNA14:interferon alpha 14 [Gene - OMIM - HGNC]
- IFNA16:interferon alpha 16 [Gene - OMIM - HGNC]
- IFNA17:interferon alpha 17 [Gene - OMIM - HGNC]
- IFNA1:interferon alpha 1 [Gene - OMIM - HGNC]
- IFNA21:interferon alpha 21 [Gene - OMIM - HGNC]
- IFNA2:interferon alpha 2 [Gene - OMIM - HGNC]
- IFNA4:interferon alpha 4 [Gene - OMIM - HGNC]
- IFNA5:interferon alpha 5 [Gene - OMIM - HGNC]
- IFNA6:interferon alpha 6 [Gene - OMIM - HGNC]
- IFNA7:interferon alpha 7 [Gene - OMIM - HGNC]
- IFNA8:interferon alpha 8 [Gene - OMIM - HGNC]
- IFNB1:interferon beta 1 [Gene - OMIM - HGNC]
- IFNE:interferon epsilon [Gene - OMIM - HGNC]
- IFNW1:interferon omega 1 [Gene - OMIM - HGNC]
- IL11RA:interleukin 11 receptor subunit alpha [Gene - OMIM - HGNC]
- IL33:interleukin 33 [Gene - OMIM - HGNC]
- IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]
- INVS:inversin [Gene - OMIM - HGNC]
- ISCA1:iron-sulfur cluster assembly 1 [Gene - OMIM - HGNC]
- IARS1:isoleucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
- KLHL9:kelch like family member 9 [Gene - OMIM - HGNC]
- KIF12:kinesin family member 12 [Gene - OMIM - HGNC]
- KIF24:kinesin family member 24 [Gene - OMIM - HGNC]
- KIF27:kinesin family member 27 [Gene - OMIM - HGNC]
- KYAT1:kynurenine aminotransferase 1 [Gene - OMIM - HGNC]
- LAMC3:laminin subunit gamma 3 [Gene - OMIM - HGNC]
- LURAP1L:leucine rich adaptor protein 1 like [Gene - OMIM - HGNC]
- LINGO2:leucine rich repeat and Ig domain containing 2 [Gene - OMIM - HGNC]
- LRSAM1:leucine rich repeat and sterile alpha motif containing 1 [Gene - OMIM - HGNC]
- LRRC19:leucine rich repeat containing 19 [Gene - OMIM - HGNC]
- LRRC26:leucine rich repeat containing 26 [Gene - OMIM - HGNC]
- LRRC8A:leucine rich repeat containing 8 VRAC subunit A [Gene - OMIM - HGNC]
- LCN10:lipocalin 10 [Gene - OMIM - HGNC]
- LCN12:lipocalin 12 [Gene - OMIM - HGNC]
- LCN15:lipocalin 15 [Gene - HGNC]
- LCN1:lipocalin 1 [Gene - OMIM - HGNC]
- LCN2:lipocalin 2 [Gene - OMIM - HGNC]
- LCN6:lipocalin 6 [Gene - OMIM - HGNC]
- LCN8:lipocalin 8 [Gene - OMIM - HGNC]
- LCN9:lipocalin 9 [Gene - OMIM - HGNC]
- LCNL1:lipocalin like 1 [Gene - HGNC]
- LINC02872:long intergenic non-protein coding RNA 2872 [Gene - HGNC]
- LINC02907:long intergenic non-protein coding RNA 2907 [Gene - HGNC]
- LINC02908:long intergenic non-protein coding RNA 2908 [Gene - HGNC]
- LINC02913:long intergenic non-protein coding RNA 2913 [Gene - HGNC]
- LINC00537:long intergenic non-protein coding RNA 537 [Gene - HGNC]
- KDM4C:lysine demethylase 4C [Gene - OMIM - HGNC]
- LPAR1:lysophosphatidic acid receptor 1 [Gene - OMIM - HGNC]
- MFSD14B:major facilitator superfamily domain containing 14B [Gene - OMIM - HGNC]
- MAN1B1:mannosidase alpha class 1B member 1 [Gene - OMIM - HGNC]
- MELK:maternal embryonic leucine zipper kinase [Gene - OMIM - HGNC]
- MED22:mediator complex subunit 22 [Gene - OMIM - HGNC]
- MED27:mediator complex subunit 27 [Gene - OMIM - HGNC]
- MLANA:melan-A [Gene - OMIM - HGNC]
- MTAP:methylthioadenosine phosphorylase [Gene - OMIM - HGNC]
- MIR101-2:microRNA 101-2 [Gene - OMIM - HGNC]
- MIR126:microRNA 126 [Gene - OMIM - HGNC]
- MIR181A2:microRNA 181a-2 [Gene - OMIM - HGNC]
- MIR181B2:microRNA 181b-2 [Gene - OMIM - HGNC]
- MIR199B:microRNA 199b [Gene - OMIM - HGNC]
- MIR204:microRNA 204 [Gene - OMIM - HGNC]
- MIR23B:microRNA 23b [Gene - OMIM - HGNC]
- MIR24-1:microRNA 24-1 [Gene - OMIM - HGNC]
- MIR27B:microRNA 27b [Gene - OMIM - HGNC]
- MIR2861:microRNA 2861 [Gene - OMIM - HGNC]
- MIR31:microRNA 31 [Gene - OMIM - HGNC]
- MIR32:microRNA 32 [Gene - OMIM - HGNC]
- MIR7-1:microRNA 7-1 [Gene - OMIM - HGNC]
- MIRLET7A1:microRNA let-7a-1 [Gene - OMIM - HGNC]
- MIRLET7D:microRNA let-7d [Gene - OMIM - HGNC]
- MIRLET7F1:microRNA let-7f-1 [Gene - OMIM - HGNC]
- MSMP:microseminoprotein, prostate associated [Gene - OMIM - HGNC]
- MRPL41:mitochondrial ribosomal protein L41 [Gene - OMIM - HGNC]
- MRPL50:mitochondrial ribosomal protein L50 [Gene - OMIM - HGNC]
- MRPS2:mitochondrial ribosomal protein S2 [Gene - OMIM - HGNC]
- MRRF:mitochondrial ribosome recycling factor [Gene - OMIM - HGNC]
- MIGA2:mitoguardin 2 [Gene - OMIM - HGNC]
- MEGF9:multiple EGF like domains 9 [Gene - OMIM - HGNC]
- MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
- MVB12B:multivesicular body subunit 12B [Gene - HGNC]
- MUSK:muscle associated receptor tyrosine kinase [Gene - OMIM - HGNC]
- MYORG:myogenesis regulating glycosidase [Gene - OMIM - HGNC]
- MYMK:myomaker, myoblast fusion factor [Gene - OMIM - HGNC]
- NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]
- NELFB:negative elongation factor complex member B [Gene - OMIM - HGNC]
- NTNG2:netrin G2 [Gene - OMIM - HGNC]
- NPDC1:neural proliferation, differentiation and control 1 [Gene - OMIM - HGNC]
- NCS1:neuronal calcium sensor 1 [Gene - OMIM - HGNC]
- NTRK2:neurotrophic receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
- NIBAN2:niban apoptosis regulator 2 [Gene - OMIM - HGNC]
- NMRK1:nicotinamide riboside kinase 1 [Gene - OMIM - HGNC]
- NINJ1:ninjurin 1 [Gene - OMIM - HGNC]
- NIPSNAP3A:nipsnap homolog 3A [Gene - OMIM - HGNC]
- NIPSNAP3B:nipsnap homolog 3B [Gene - OMIM - HGNC]
- NRON:non-coding repressor of NFAT [Gene - OMIM - HGNC]
- NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
- NAIF1:nuclear apoptosis inducing factor 1 [Gene - OMIM - HGNC]
- NCBP1:nuclear cap binding protein subunit 1 [Gene - OMIM - HGNC]
- NFIB:nuclear factor I B [Gene - OMIM - HGNC]
- NFIL3:nuclear factor, interleukin 3 regulated [Gene - OMIM - HGNC]
- NR4A3:nuclear receptor subfamily 4 group A member 3 [Gene - OMIM - HGNC]
- NR5A1:nuclear receptor subfamily 5 group A member 1 [Gene - OMIM - HGNC]
- NR6A1:nuclear receptor subfamily 6 group A member 1 [Gene - OMIM - HGNC]
- NFX1:nuclear transcription factor, X-box binding 1 [Gene - OMIM - HGNC]
- NOL6:nucleolar protein 6 [Gene - OMIM - HGNC]
- NOL8:nucleolar protein 8 [Gene - OMIM - HGNC]
- NUP188:nucleoporin 188 [Gene - OMIM - HGNC]
- NUP214:nucleoporin 214 [Gene - OMIM - HGNC]
- NXNL2:nucleoredoxin like 2 [Gene - OMIM - HGNC]
- NUDT2:nudix hydrolase 2 [Gene - OMIM - HGNC]
- OBP2A:odorant binding protein 2A [Gene - OMIM - HGNC]
- OBP2B:odorant binding protein 2B [Gene - OMIM - HGNC]
- OLFM1:olfactomedin 1 [Gene - OMIM - HGNC]
- OLFML2A:olfactomedin like 2A [Gene - OMIM - HGNC]
- OR1B1:olfactory receptor family 1 subfamily B member 1 [Gene - HGNC]
- OR1J1:olfactory receptor family 1 subfamily J member 1 [Gene - HGNC]
- OR1J2:olfactory receptor family 1 subfamily J member 2 [Gene - HGNC]
- OR1J4:olfactory receptor family 1 subfamily J member 4 [Gene - HGNC]
- OR1K1:olfactory receptor family 1 subfamily K member 1 [Gene - HGNC]
- OR1L1:olfactory receptor family 1 subfamily L member 1 [Gene - HGNC]
- OR1L3:olfactory receptor family 1 subfamily L member 3 [Gene - HGNC]
- OR1L4:olfactory receptor family 1 subfamily L member 4 [Gene - HGNC]
- OR1L6:olfactory receptor family 1 subfamily L member 6 [Gene - HGNC]
- OR1L8:olfactory receptor family 1 subfamily L member 8 [Gene - HGNC]
- OR1N1:olfactory receptor family 1 subfamily N member 1 [Gene - HGNC]
- OR1N2:olfactory receptor family 1 subfamily N member 2 [Gene - HGNC]
- OR1Q1:olfactory receptor family 1 subfamily Q member 1 [Gene - HGNC]
- OR13C2:olfactory receptor family 13 subfamily C member 2 [Gene - HGNC]
- OR13C3:olfactory receptor family 13 subfamily C member 3 [Gene - HGNC]
- OR13C4:olfactory receptor family 13 subfamily C member 4 [Gene - HGNC]
- OR13C5:olfactory receptor family 13 subfamily C member 5 [Gene - HGNC]
- OR13C8:olfactory receptor family 13 subfamily C member 8 [Gene - HGNC]
- OR13C9:olfactory receptor family 13 subfamily C member 9 [Gene - HGNC]
- OR13D1:olfactory receptor family 13 subfamily D member 1 [Gene - HGNC]
- OR13F1:olfactory receptor family 13 subfamily F member 1 [Gene - HGNC]
- OR13J1:olfactory receptor family 13 subfamily J member 1 [Gene - HGNC]
- OR2K2:olfactory receptor family 2 subfamily K member 2 [Gene - HGNC]
- OR2S2:olfactory receptor family 2 subfamily S member 2 [Gene - HGNC]
- OR5C1:olfactory receptor family 5 subfamily C member 1 [Gene - HGNC]
- ORM1:orosomucoid 1 [Gene - OMIM - HGNC]
- ORM2:orosomucoid 2 [Gene - OMIM - HGNC]
- OSTF1:osteoclast stimulating factor 1 [Gene - OMIM - HGNC]
- OGN:osteoglycin [Gene - OMIM - HGNC]
- OMD:osteomodulin [Gene - OMIM - HGNC]
- ODF2:outer dense fiber of sperm tails 2 [Gene - OMIM - HGNC]
- PAX5:paired box 5 [Gene - OMIM - HGNC]
- PRRX2:paired related homeobox 2 [Gene - OMIM - HGNC]
- PAPPA:pappalysin 1 [Gene - OMIM - HGNC]
- PALM2:paralemmin 2 [Gene - HGNC]
- PNPLA7:patatin like phospholipase domain containing 7 [Gene - OMIM - HGNC]
- PTCH1:patched 1 [Gene - OMIM - HGNC]
- PMPCA:peptidase, mitochondrial processing subunit alpha [Gene - OMIM - HGNC]
- PTRH1:peptidyl-tRNA hydrolase 1 homolog [Gene - HGNC]
- PLIN2:perilipin 2 [Gene - OMIM - HGNC]
- PRXL2C:peroxiredoxin like 2C [Gene - HGNC]
- PDCL:phosducin like [Gene - OMIM - HGNC]
- PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]
- PIP5KL1:phosphatidylinositol-4-phosphate 5-kinase like 1 [Gene - OMIM - HGNC]
- PIP5K1B:phosphatidylinositol-4-phosphate 5-kinase type 1 beta [Gene - OMIM - HGNC]
- PGM5:phosphoglucomutase 5 [Gene - OMIM - HGNC]
- PHPT1:phosphohistidine phosphatase 1 [Gene - OMIM - HGNC]
- PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]
- PLPP6:phospholipid phosphatase 6 [Gene - OMIM - HGNC]
- PLPP7:phospholipid phosphatase 7 (inactive) [Gene - OMIM - HGNC]
- PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
- PHYHD1:phytanoyl-CoA dioxygenase domain containing 1 [Gene - OMIM - HGNC]
- PIERCE1:piercer of microtubule wall 1 [Gene - OMIM - HGNC]
- PLGRKT:plasminogen receptor with a C-terminal lysine [Gene - OMIM - HGNC]
- GALNT12:polypeptide N-acetylgalactosaminyltransferase 12 [Gene - OMIM - HGNC]
- PTBP3:polypyrimidine tract binding protein 3 [Gene - OMIM - HGNC]
- PGAP4:post-GPI attachment to proteins GalNAc transferase 4 [Gene - OMIM - HGNC]
- KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]
- KCNV2:potassium voltage-gated channel modifier subfamily V member 2 [Gene - OMIM - HGNC]
- PRPF4:pre-mRNA splicing tri-snRNP complex factor PRPF4 [Gene - OMIM - HGNC]
- PAEP:progestagen associated endometrial protein [Gene - OMIM - HGNC]
- PDCD1LG2:programmed cell death 1 ligand 2 [Gene - OMIM - HGNC]
- PRRC2B:proline rich coiled-coil 2B [Gene - OMIM - HGNC]
- PCSK5:proprotein convertase subtilisin/kexin type 5 [Gene - OMIM - HGNC]
- PTGDS:prostaglandin D2 synthase [Gene - OMIM - HGNC]
- PTGES2:prostaglandin E synthase 2 [Gene - OMIM - HGNC]
- PTGES:prostaglandin E synthase [Gene - OMIM - HGNC]
- PTGR1:prostaglandin reductase 1 [Gene - OMIM - HGNC]
- PTGS1:prostaglandin-endoperoxide synthase 1 [Gene - OMIM - HGNC]
- PCA3:prostate cancer associated 3 [Gene - OMIM - HGNC]
- PSMB7:proteasome 20S subunit beta 7 [Gene - OMIM - HGNC]
- PSMD5:proteasome 26S subunit, non-ATPase 5 [Gene - OMIM - HGNC]
- POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]
- PKN3:protein kinase N3 [Gene - OMIM - HGNC]
- PRKACG:protein kinase cAMP-activated catalytic subunit gamma [Gene - OMIM - HGNC]
- PPP1R26:protein phosphatase 1 regulatory subunit 26 [Gene - OMIM - HGNC]
- PTPA:protein phosphatase 2 phosphatase activator [Gene - OMIM - HGNC]
- PPP3R2:protein phosphatase 3 regulatory subunit B, beta [Gene - OMIM - HGNC]
- PPP6C:protein phosphatase 6 catalytic subunit [Gene - OMIM - HGNC]
- PTAR1:protein prenyltransferase alpha subunit repeat containing 1 [Gene - HGNC]
- PTPDC1:protein tyrosine phosphatase domain containing 1 [Gene - HGNC]
- PTPN3:protein tyrosine phosphatase non-receptor type 3 [Gene - OMIM - HGNC]
- PTPRD:protein tyrosine phosphatase receptor type D [Gene - OMIM - HGNC]
- PRUNE2:prune homolog 2 with BCH domain [Gene - OMIM - HGNC]
- PUM3:pumilio RNA binding family member 3 [Gene - OMIM - HGNC]
- QRFP:pyroglutamylated RFamide peptide [Gene - OMIM - HGNC]
- QSOX2:quiescin sulfhydryl oxidase 2 [Gene - OMIM - HGNC]
- RALGDS:ral guanine nucleotide dissociation stimulator [Gene - OMIM - HGNC]
- ROR2:receptor tyrosine kinase like orphan receptor 2 [Gene - OMIM - HGNC]
- RGS3:regulator of G protein signaling 3 [Gene - OMIM - HGNC]
- RFX3:regulatory factor X3 [Gene - OMIM - HGNC]
- RLN1:relaxin 1 [Gene - OMIM - HGNC]
- RLN2:relaxin 2 [Gene - OMIM - HGNC]
- RXRA:retinoid X receptor alpha [Gene - OMIM - HGNC]
- RECK:reversion inducing cysteine rich protein with kazal motifs [Gene - OMIM - HGNC]
- RFK:riboflavin kinase [Gene - OMIM - HGNC]
- RPP25L:ribonuclease P/MRP subunit p25 like [Gene - HGNC]
- RPL12:ribosomal protein L12 [Gene - OMIM - HGNC]
- RPL35:ribosomal protein L35 [Gene - OMIM - HGNC]
- RPL7A:ribosomal protein L7a [Gene - OMIM - HGNC]
- RPS6:ribosomal protein S6 [Gene - OMIM - HGNC]
- RC3H2:ring finger and CCCH-type domains 2 [Gene - OMIM - HGNC]
- RNF183:ring finger protein 183 [Gene - HGNC]
- RNF208:ring finger protein 208 [Gene - OMIM - HGNC]
- RNF20:ring finger protein 20 [Gene - OMIM - HGNC]
- RNF224:ring finger protein 224 [Gene - HGNC]
- RNF38:ring finger protein 38 [Gene - OMIM - HGNC]
- SARDH:sarcosine dehydrogenase [Gene - OMIM - HGNC]
- SEMA4D:semaphorin 4D [Gene - OMIM - HGNC]
- SETX:senataxin [Gene - OMIM - HGNC]
- SPTLC1:serine palmitoyltransferase long chain base subunit 1 [Gene - OMIM - HGNC]
- SPINK4:serine peptidase inhibitor Kazal type 4 [Gene - OMIM - HGNC]
- PRSS3:serine protease 3 [Gene - OMIM - HGNC]
- PRSS47:serine protease 47 [Gene - HGNC]
- STKLD1:serine/threonine kinase like domain containing 1 [Gene - OMIM - HGNC]
- SHOC1:shortage in chiasmata 1 [Gene - OMIM - HGNC]
- SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]
- SIT1:signaling threshold regulating transmembrane adaptor 1 [Gene - OMIM - HGNC]
- SNAPC3:small nuclear RNA activating complex polypeptide 3 [Gene - OMIM - HGNC]
- SNAPC4:small nuclear RNA activating complex polypeptide 4 [Gene - OMIM - HGNC]
- SNHG7:small nucleolar RNA host gene 7 [Gene - HGNC]
- SLC1A1:solute carrier family 1 member 1 [Gene - OMIM - HGNC]
- SLC2A6:solute carrier family 2 member 6 [Gene - OMIM - HGNC]
- SLC2A8:solute carrier family 2 member 8 [Gene - OMIM - HGNC]
- SLC24A2:solute carrier family 24 member 2 [Gene - OMIM - HGNC]
- SLC25A25:solute carrier family 25 member 25 [Gene - OMIM - HGNC]
- SLC25A51:solute carrier family 25 member 51 [Gene - OMIM - HGNC]
- SLC27A4:solute carrier family 27 member 4 [Gene - OMIM - HGNC]
- SLC28A3:solute carrier family 28 member 3 [Gene - OMIM - HGNC]
- SLC31A1:solute carrier family 31 member 1 [Gene - OMIM - HGNC]
- SLC31A2:solute carrier family 31 member 2 [Gene - OMIM - HGNC]
- SLC34A3:solute carrier family 34 member 3 [Gene - OMIM - HGNC]
- SLC35D2:solute carrier family 35 member D2 [Gene - OMIM - HGNC]
- SLC44A1:solute carrier family 44 member 1 [Gene - OMIM - HGNC]
- SLC46A2:solute carrier family 46 member 2 [Gene - OMIM - HGNC]
- SNX30:sorting nexin family member 30 [Gene - HGNC]
- SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]
- SPACA9:sperm acrosome associated 9 [Gene - OMIM - HGNC]
- SPAG8:sperm associated antigen 8 [Gene - OMIM - HGNC]
- SPMIP6:sperm microtubule inner protein 6 [Gene - OMIM - HGNC]
- STPG3:sperm-tail PG-rich repeat containing 3 [Gene - HGNC]
- STRBP:spermatid perinuclear RNA binding protein [Gene - OMIM - HGNC]
- SOHLH1:spermatogenesis and oogenesis specific basic helix-loop-helix 1 [Gene - OMIM - HGNC]
- SPATA6L:spermatogenesis associated 6 like [Gene - HGNC]
- S1PR3:sphingosine-1-phosphate receptor 3 [Gene - OMIM - HGNC]
- SPIN1:spindlin 1 [Gene - OMIM - HGNC]
- SYK:spleen associated tyrosine kinase [Gene - OMIM - HGNC]
- SAXO1:stabilizer of axonemal microtubules 1 [Gene - OMIM - HGNC]
- STOML2:stomatin like 2 [Gene - OMIM - HGNC]
- STOM:stomatin [Gene - OMIM - HGNC]
- SMC2:structural maintenance of chromosomes 2 [Gene - OMIM - HGNC]
- SMC5:structural maintenance of chromosomes 5 [Gene - OMIM - HGNC]
- SAPCD2:suppressor APC domain containing 2 [Gene - OMIM - HGNC]
- SCAI:suppressor of cancer cell invasion [Gene - OMIM - HGNC]
- SURF2:surfeit 2 [Gene - OMIM - HGNC]
- SURF4:surfeit 4 [Gene - OMIM - HGNC]
- SURF6:surfeit 6 [Gene - OMIM - HGNC]
- SUSD1:sushi domain containing 1 [Gene - HGNC]
- SUSD3:sushi domain containing 3 [Gene - OMIM - HGNC]
- SVEP1:sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Gene - OMIM - HGNC]
- STX17:syntaxin 17 [Gene - OMIM - HGNC]
- STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
- TRMT10B:tRNA methyltransferase 10B [Gene - HGNC]
- TRMO:tRNA methyltransferase O [Gene - HGNC]
- TLN1:talin 1 [Gene - OMIM - HGNC]
- TPRN:taperin [Gene - OMIM - HGNC]
- TNC:tenascin C [Gene - OMIM - HGNC]
- TUT7:terminal uridylyl transferase 7 [Gene - OMIM - HGNC]
- TESK1:testis associated actin remodelling kinase 1 [Gene - OMIM - HGNC]
- TEX10:testis expressed 10 [Gene - OMIM - HGNC]
- TTC16:tetratricopeptide repeat domain 16 [Gene - HGNC]
- TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
- TXNDC8:thioredoxin domain containing 8 [Gene - OMIM - HGNC]
- TXN:thioredoxin [Gene - OMIM - HGNC]
- TSTD2:thiosulfate sulfurtransferase like domain containing 2 [Gene - HGNC]
- TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
- TLR4:toll like receptor 4 [Gene - OMIM - HGNC]
- TOR1A:torsin family 1 member A [Gene - OMIM - HGNC]
- TOR1B:torsin family 1 member B [Gene - OMIM - HGNC]
- TOR2A:torsin family 2 member A [Gene - OMIM - HGNC]
- TOR4A:torsin family 4 member A [Gene - HGNC]
- TTF1:transcription termination factor 1 [Gene - OMIM - HGNC]
- TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
- TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]
- TRPM6:transient receptor potential cation channel subfamily M member 6 [Gene - OMIM - HGNC]
- TOMM5:translocase of outer mitochondrial membrane 5 [Gene - OMIM - HGNC]
- TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
- TMEM141:transmembrane protein 141 [Gene - HGNC]
- TMEM203:transmembrane protein 203 [Gene - OMIM - HGNC]
- TMEM210:transmembrane protein 210 [Gene - HGNC]
- TMEM215:transmembrane protein 215 [Gene - HGNC]
- TMEM245:transmembrane protein 245 [Gene - OMIM - HGNC]
- TMEM250:transmembrane protein 250 [Gene - HGNC]
- TMEM252:transmembrane protein 252 [Gene - HGNC]
- TMEM268:transmembrane protein 268 [Gene - HGNC]
- TMEM38B:transmembrane protein 38B [Gene - OMIM - HGNC]
- TMEM8B:transmembrane protein 8B [Gene - OMIM - HGNC]
- TMEFF1:transmembrane protein with EGF like and two follistatin like domains 1 [Gene - OMIM - HGNC]
- TRIM14:tripartite motif containing 14 [Gene - OMIM - HGNC]
- TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]
- TMOD1:tropomodulin 1 [Gene - OMIM - HGNC]
- TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
- TUBB4B:tubulin beta 4B class IVb [Gene - OMIM - HGNC]
- TTLL11:tubulin tyrosine ligase like 11 [Gene - OMIM - HGNC]
- TDRD7:tudor domain containing 7 [Gene - OMIM - HGNC]
- TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
- TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
- UBQLN1:ubiquilin 1 [Gene - OMIM - HGNC]
- UBAP1:ubiquitin associated protein 1 [Gene - OMIM - HGNC]
- UBAP2:ubiquitin associated protein 2 [Gene - HGNC]
- UBE2R2:ubiquitin conjugating enzyme E2 R2 [Gene - OMIM - HGNC]
- UHRF2:ubiquitin like with PHD and ring finger domains 2 [Gene - OMIM - HGNC]
- URM1:ubiquitin related modifier 1 [Gene - OMIM - HGNC]
- USP20:ubiquitin specific peptidase 20 [Gene - OMIM - HGNC]
- UNC13B:unc-13 homolog B [Gene - OMIM - HGNC]
- LOC651337:uncharacterized LOC651337 [Gene]
- UCK1:uridine-cytidine kinase 1 [Gene - OMIM - HGNC]
- VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
- VCP:valosin containing protein [Gene - OMIM - HGNC]
- VAV2:vav guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
- VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
- WHRN:whirlin [Gene - OMIM - HGNC]
- ZFAND5:zinc finger AN1-type containing 5 [Gene - OMIM - HGNC]
- ZCCHC7:zinc finger CCHC-type containing 7 [Gene - HGNC]
- ZDHHC12:zinc finger DHHC-type palmitoyltransferase 12 [Gene - HGNC]
- ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]
- ZMYND19:zinc finger MYND-type containing 19 [Gene - OMIM - HGNC]
- ZBTB26:zinc finger and BTB domain containing 26 [Gene - OMIM - HGNC]
- ZBTB34:zinc finger and BTB domain containing 34 [Gene - OMIM - HGNC]
- ZBTB43:zinc finger and BTB domain containing 43 [Gene - OMIM - HGNC]
- ZBTB5:zinc finger and BTB domain containing 5 [Gene - OMIM - HGNC]
- ZBTB6:zinc finger and BTB domain containing 6 [Gene - OMIM - HGNC]
- ZNF169:zinc finger protein 169 [Gene - OMIM - HGNC]
- ZNF189:zinc finger protein 189 [Gene - OMIM - HGNC]
- ZNF367:zinc finger protein 367 [Gene - OMIM - HGNC]
- ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]
- ZNF483:zinc finger protein 483 [Gene - HGNC]
- ZNF484:zinc finger protein 484 [Gene - HGNC]
- ZNF510:zinc finger protein 510 [Gene - OMIM - HGNC]
- ZNF618:zinc finger protein 618 [Gene - OMIM - HGNC]
- ZNF658:zinc finger protein 658 [Gene - OMIM - HGNC]
- ZNF782:zinc finger protein 782 [Gene - HGNC]
- ZNF79:zinc finger protein 79 [Gene - OMIM - HGNC]
- ZNF883:zinc finger protein 883 [Gene - HGNC]
- ZER1:zyg-11 related cell cycle regulator [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 9p24.3-q34.3
- Genomic location:
- Chr9: 163131 - 141122114 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3
- HGVS:
- This HGVS expression did not pass validation
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000298330 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Pathogenic (Jan 20, 2016) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV000298330.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Sep 1, 2024