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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 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
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:

    Condition(s)

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

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000298330GeneDx
    criteria provided, single submitter

    (GeneDx Variant Classification (06012015))
    Pathogenic
    (Jan 20, 2016)
    unknownclinical testing

    Citation Link

    Summary from all submissions

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

    Details of each submission

    From GeneDx, SCV000298330.3

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

    Last Updated: Sep 1, 2024