GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Sep 21, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000139539.3

Allele description [Variation Report for GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3]

GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3

Genes:
  • DECR1:2,4-dienoyl-CoA reductase 1 [Gene - OMIM - HGNC]
  • BPNT2:3'(2'), 5'-bisphosphate nucleotidase 2 [Gene - OMIM - HGNC]
  • LOC108004544:8q13.2-q13.3 distal HERV-mediated recombination region [Gene]
  • LOC108004543:8q13.2-q13.3 proximal HERV-mediated recombination region [Gene]
  • ARFGEF1:ADP ribosylation factor guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • ALKAL1:ALK and LTK ligand 1 [Gene - HGNC]
  • ASAP1-IT1:ASAP1 intronic transcript 1 [Gene - HGNC]
  • ASAP1-IT2:ASAP1 intronic transcript 2 [Gene - HGNC]
  • ATP6V0D2:ATPase H+ transporting V0 subunit d2 [Gene - OMIM - HGNC]
  • ATP6V1C1:ATPase H+ transporting V1 subunit C1 [Gene - OMIM - HGNC]
  • ATP6V1H:ATPase H+ transporting V1 subunit H [Gene - OMIM - HGNC]
  • ATAD2:ATPase family AAA domain containing 2 [Gene - OMIM - HGNC]
  • AZIN1-AS1:AZIN1 antisense RNA 1 [Gene - HGNC]
  • ASAP1:ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]
  • BAALC-AS1:BAALC antisense RNA 1 [Gene - HGNC]
  • BAALC-AS2:BAALC antisense RNA 2 [Gene - HGNC]
  • BAALC:BAALC binder of MAP3K1 and KLF4 [Gene - OMIM - HGNC]
  • C8orf34-AS1:C8orf34 antisense RNA 1 [Gene - HGNC]
  • C8orf37-AS1:C8orf37 antisense RNA 1 [Gene - HGNC]
  • C8orf44-SGK3:C8orf44-SGK3 readthrough [Gene - HGNC]
  • LOC111089944:CA1 upstream erythroid promoter [Gene]
  • CA3-AS1:CA3 antisense RNA 1 [Gene - HGNC]
  • LOC108281171:CAGE-defined mid-level expression enhancer upstream of ASPH [Gene]
  • LOC108228207:CASC19-CCAT1 intergenic CAGE-defined high expression enhancer [Gene]
  • CIBAR1:CBY1 interacting BAR domain containing 1 [Gene - OMIM - HGNC]
  • CEBPD:CCAAT enhancer binding protein delta [Gene - OMIM - HGNC]
  • LOC108353813:CCAT1 intron CAGE-defined B cell enhancer [Gene]
  • CCDC26:CCDC26 long non-coding RNA [Gene - OMIM - HGNC]
  • LOC108281119:COLEC10 intron CAGE-defined low expression enhancer [Gene]
  • COPS5:COP9 signalosome subunit 5 [Gene - OMIM - HGNC]
  • LOC116186928:CRISPRi-validated cis-regulatory element chr8.1663 [Gene]
  • LOC116186929:CRISPRi-validated cis-regulatory element chr8.1767 [Gene]
  • LOC116186930:CRISPRi-validated cis-regulatory element chr8.1768 [Gene]
  • LOC116186931:CRISPRi-validated cis-regulatory element chr8.1769 [Gene]
  • LOC116186932:CRISPRi-validated cis-regulatory element chr8.1934 [Gene]
  • LOC116186933:CRISPRi-validated cis-regulatory element chr8.2225 [Gene]
  • LOC116186934:CRISPRi-validated cis-regulatory element chr8.2347 [Gene]
  • LOC116186935:CRISPRi-validated cis-regulatory element chr8.2573 [Gene]
  • CSMD3:CUB and Sushi multiple domains 3 [Gene - OMIM - HGNC]
  • CYRIB:CYFIP related Rac1 interactor B [Gene - OMIM - HGNC]
  • LOC110596866:CYP7A1 5' regulatory region [Gene]
  • DCAF13:DDB1 and CUL4 associated factor 13 [Gene - OMIM - HGNC]
  • DCAF4L2:DDB1 and CUL4 associated factor 4 like 2 [Gene - HGNC]
  • DEPTOR:DEP domain containing MTOR interacting protein [Gene - OMIM - HGNC]
  • DSCC1:DNA replication and sister chromatid cohesion 1 [Gene - OMIM - HGNC]
  • DNAJC5B:DnaJ heat shock protein family (Hsp40) member C5 beta [Gene - OMIM - HGNC]
  • E2F5:E2F transcription factor 5 [Gene - OMIM - HGNC]
  • EFCAB1:EF-hand calcium binding domain 1 [Gene - HGNC]
  • EFR3A:EFR3 homolog A [Gene - OMIM - HGNC]
  • ENY2:ENY2 transcription and export complex 2 subunit [Gene - HGNC]
  • EMC2:ER membrane protein complex subunit 2 [Gene - OMIM - HGNC]
  • LOC108491824:EXT1 intron enhancer-blocking element 8-1-1 [Gene]
  • EYA1:EYA transcriptional coactivator and phosphatase 1 [Gene - OMIM - HGNC]
  • FBXO32:F-box protein 32 [Gene - OMIM - HGNC]
  • FBXO43:F-box protein 43 [Gene - OMIM - HGNC]
  • FAM83A-AS1:FAM83A antisense RNA 1 [Gene - HGNC]
  • FER1L6-AS1:FER1L6 antisense RNA 1 [Gene - HGNC]
  • FER1L6-AS2:FER1L6 antisense RNA 2 [Gene - HGNC]
  • LOC111556153:GATA motif-containing MPRA enhancer 124 [Gene]
  • LOC111429611:GATA motif-containing MPRA enhancer 208 [Gene]
  • GEM:GTP binding protein overexpressed in skeletal muscle [Gene - OMIM - HGNC]
  • HAS2-AS1:HAS2 antisense RNA 1 [Gene - OMIM - HGNC]
  • HHLA1:HERV-H LTR-associating 1 [Gene - OMIM - HGNC]
  • LOC111365183:HNF1 motif-containing MPRA enhancer 31 [Gene]
  • LOC111556135:HNF1 motif-containing MPRA enhancer 57 [Gene]
  • LOC111556139:HNF1 motif-containing MPRA enhancer 71 [Gene]
  • LOC111365178:HNF4 and FOXA motif-containing MPRA enhancers 14 and 42 [Gene]
  • LOC111556148:HNF4 motif-containing MPRA enhancer 108 [Gene]
  • LOC111365182:HNF4 motif-containing MPRA enhancer 29 [Gene]
  • HPYR1:Helicobacter pylori responsive 1 [Gene - HGNC]
  • KHDRBS3:KH RNA binding domain containing, signal transduction associated 3 [Gene - OMIM - HGNC]
  • KLF10:Kruppel like factor 10 [Gene - OMIM - HGNC]
  • LACTB2-AS1:LACTB2 antisense RNA 1 [Gene - HGNC]
  • LRP12:LDL receptor related protein 12 [Gene - OMIM - HGNC]
  • LOC100130232:LP2209 [Gene]
  • LRATD2:LRAT domain containing 2 [Gene - OMIM - HGNC]
  • LYN:LYN proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • MAL2-AS1:MAL2 antisense RNA 1 [Gene - HGNC]
  • MTBP:MDM2 binding protein [Gene - OMIM - HGNC]
  • MIR124-2HG:MIR124-2 host gene [Gene - HGNC]
  • MIR2052HG:MIR2052 host gene [Gene - HGNC]
  • MIR3150BHG:MIR3150B host gene [Gene - HGNC]
  • MOS:MOS proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • MSC-AS1:MSC antisense RNA 1 [Gene - HGNC]
  • MTSS1:MTSS I-BAR domain containing 1 [Gene - OMIM - HGNC]
  • MYBL1:MYB proto-oncogene like 1 [Gene - OMIM - HGNC]
  • MYC:MYC proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
  • NDRG1:N-myc downstream regulated 1 [Gene - OMIM - HGNC]
  • NECAB1:N-terminal EF-hand calcium binding protein 1 [Gene - HGNC]
  • NDUFAF6:NADH:ubiquinone oxidoreductase complex assembly factor 6 [Gene - OMIM - HGNC]
  • NDUFB9:NADH:ubiquinone oxidoreductase subunit B9 [Gene - OMIM - HGNC]
  • LOC111429623:NFE2L2 motif-containing MPRA enhancer 220/221 [Gene]
  • LOC111589211:NFE2L2 motif-containing MPRA enhancer 239 [Gene]
  • LOC111365157:NFE2L2 motif-containing MPRA enhancer 33 [Gene]
  • LOC111556136:NFE2L2 motif-containing MPRA enhancer 61 [Gene]
  • NIPAL2:NIPA like domain containing 2 [Gene - HGNC]
  • NKAIN3-IT1:NKAIN3 intronic transcript [Gene - HGNC]
  • NSMCE2:NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [Gene - OMIM - HGNC]
  • NUDCD1:NudC domain containing 1 [Gene - OMIM - HGNC]
  • OTUD6B:OTU deubiquitinase 6B [Gene - OMIM - HGNC]
  • OTUD6B-AS1:OTUD6B antisense RNA 1 (head to head) [Gene - HGNC]
  • PHF20L1:PHD finger protein 20 like 1 [Gene - HGNC]
  • PKHD1L1:PKHD1 like 1 [Gene - OMIM - HGNC]
  • PKIA-AS1:PKIA antisense RNA 1 [Gene - HGNC]
  • PLAG1:PLAG1 zinc finger [Gene - OMIM - HGNC]
  • POP1:POP1 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
  • POU5F1B:POU class 5 homeobox 1B [Gene - OMIM - HGNC]
  • PRDM14:PR/SET domain 14 [Gene - OMIM - HGNC]
  • LOC108254690:PVT1 intron CAGE-defined low expression enhancer [Gene]
  • PVT1:Pvt1 oncogene [Gene - OMIM - HGNC]
  • RSPO2:R-spondin 2 [Gene - OMIM - HGNC]
  • RAB2A:RAB2A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAD21-AS1:RAD21 antisense RNA 1 [Gene - HGNC]
  • RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]
  • RAD54B:RAD54 homolog B [Gene - OMIM - HGNC]
  • RALYL:RALY RNA binding protein like [Gene - OMIM - HGNC]
  • RB1CC1:RB1 inducible coiled-coil 1 [Gene - OMIM - HGNC]
  • RBM12B-AS1:RBM12B antisense RNA 1 [Gene - HGNC]
  • RDH10-AS1:RDH10 antisense RNA 1 [Gene - HGNC]
  • RBM12B:RNA binding motif protein 12B [Gene - HGNC]
  • POLR2K:RNA polymerase II subunit K [Gene - OMIM - HGNC]
  • RNU105C:RNA, U105C small nucleolar [Gene - HGNC]
  • RNF139-AS1:RNF139 antisense RNA 1 (head to head) [Gene - HGNC]
  • LOC108254662:RNF19A-ANKRD46 intergenic CAGE-defined high expression enhancer [Gene]
  • RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
  • RRS1-AS1:RRS1 antisense RNA 1 (head to head) [Gene - HGNC]
  • RUNX1T1:RUNX1 partner transcriptional co-repressor 1 [Gene - OMIM - HGNC]
  • SAMD12-AS1:SAMD12 antisense RNA 1 [Gene - HGNC]
  • SOX17:SRY-box transcription factor 17 [Gene - OMIM - HGNC]
  • ST18:ST18 C2H2C-type zinc finger transcription factor [Gene - OMIM - HGNC]
  • LOC108281129:ST18-FAM150A intergenic CAGE-defined low expression enhancer [Gene]
  • ST3GAL1:ST3 beta-galactoside alpha-2,3-sialyltransferase 1 [Gene - OMIM - HGNC]
  • STAU2-AS1:STAU2 antisense RNA 1 [Gene - HGNC]
  • LOC113788298:Sharpr-MPRA regulatory region 10694 [Gene]
  • LOC113783879:Sharpr-MPRA regulatory region 1163 [Gene]
  • LOC113788293:Sharpr-MPRA regulatory region 11833 [Gene]
  • LOC113788251:Sharpr-MPRA regulatory region 11925 [Gene]
  • LOC114004409:Sharpr-MPRA regulatory region 12099 [Gene]
  • LOC113783881:Sharpr-MPRA regulatory region 12229 [Gene]
  • LOC113783878:Sharpr-MPRA regulatory region 12327 [Gene]
  • LOC113788290:Sharpr-MPRA regulatory region 12445 [Gene]
  • LOC113788299:Sharpr-MPRA regulatory region 12470 [Gene]
  • LOC113788258:Sharpr-MPRA regulatory region 13712 [Gene]
  • LOC113788296:Sharpr-MPRA regulatory region 13813 [Gene]
  • LOC113783877:Sharpr-MPRA regulatory region 13822 [Gene]
  • LOC113788249:Sharpr-MPRA regulatory region 1392 [Gene]
  • LOC113788285:Sharpr-MPRA regulatory region 14341 [Gene]
  • LOC113788291:Sharpr-MPRA regulatory region 14742 [Gene]
  • LOC113788254:Sharpr-MPRA regulatory region 2006 [Gene]
  • LOC113788297:Sharpr-MPRA regulatory region 2014 [Gene]
  • LOC113788255:Sharpr-MPRA regulatory region 2045 [Gene]
  • LOC113788248:Sharpr-MPRA regulatory region 238 [Gene]
  • LOC113788252:Sharpr-MPRA regulatory region 2746 [Gene]
  • LOC113788247:Sharpr-MPRA regulatory region 2988 [Gene]
  • LOC113788257:Sharpr-MPRA regulatory region 3250 [Gene]
  • LOC113788259:Sharpr-MPRA regulatory region 3511 [Gene]
  • LOC113788295:Sharpr-MPRA regulatory region 4298 [Gene]
  • LOC113788253:Sharpr-MPRA regulatory region 4427 [Gene]
  • LOC113788288:Sharpr-MPRA regulatory region 5071 [Gene]
  • LOC113783876:Sharpr-MPRA regulatory region 5914 [Gene]
  • LOC113788287:Sharpr-MPRA regulatory region 5984 [Gene]
  • LOC114004410:Sharpr-MPRA regulatory region 6081 [Gene]
  • LOC113788256:Sharpr-MPRA regulatory region 6197 [Gene]
  • LOC113788292:Sharpr-MPRA regulatory region 7401 [Gene]
  • LOC113783880:Sharpr-MPRA regulatory region 791 [Gene]
  • LOC111811969:Sharpr-MPRA regulatory region 792/14152 [Gene]
  • LOC113788260:Sharpr-MPRA regulatory region 9382 [Gene]
  • SLA:Src like adaptor [Gene - OMIM - HGNC]
  • TAF2:TATA-box binding protein associated factor 2 [Gene - OMIM - HGNC]
  • TBC1D31:TBC1 domain family member 31 [Gene - HGNC]
  • TNFRSF11B:TNF receptor superfamily member 11b [Gene - OMIM - HGNC]
  • TSPYL5:TSPY like 5 [Gene - OMIM - HGNC]
  • TATDN1:TatD DNase domain containing 1 [Gene - HGNC]
  • UBR5-AS1:UBR5 antisense RNA 1 [Gene - HGNC]
  • UBXN2B:UBX domain protein 2B [Gene - OMIM - HGNC]
  • UTP23:UTP23 small subunit processome component [Gene - HGNC]
  • LOC110121038:VISTA enhancer hs1239 [Gene]
  • LOC110121048:VISTA enhancer hs1305 [Gene]
  • LOC110121054:VISTA enhancer hs1318 [Gene]
  • LOC110121059:VISTA enhancer hs1326 [Gene]
  • LOC110121079:VISTA enhancer hs1364 [Gene]
  • LOC110121096:VISTA enhancer hs1422 [Gene]
  • LOC110121100:VISTA enhancer hs1431 [Gene]
  • LOC110121123:VISTA enhancer hs1482 [Gene]
  • LOC110121155:VISTA enhancer hs1599 [Gene]
  • LOC110121157:VISTA enhancer hs1601 [Gene]
  • LOC110121179:VISTA enhancer hs1658 [Gene]
  • LOC110121186:VISTA enhancer hs1681 [Gene]
  • LOC110121191:VISTA enhancer hs1709 [Gene]
  • LOC110121208:VISTA enhancer hs1800 [Gene]
  • LOC110121217:VISTA enhancer hs1877 [Gene]
  • LOC110120608:VISTA enhancer hs195 [Gene]
  • LOC114827840:VISTA enhancer hs2563 [Gene]
  • LOC110120738:VISTA enhancer hs669 [Gene]
  • LOC110120748:VISTA enhancer hs698 [Gene]
  • LOC110120756:VISTA enhancer hs742 [Gene]
  • LOC110120766:VISTA enhancer hs774 [Gene]
  • LOC110120797:VISTA enhancer hs891 [Gene]
  • LOC110120800:VISTA enhancer hs908 [Gene]
  • LOC110120801:VISTA enhancer hs909 [Gene]
  • LOC110120802:VISTA enhancer hs919 [Gene]
  • VPS13B-DT:VPS13B divergent transcript [Gene - HGNC]
  • WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]
  • WDYHV1:WDYHV motif containing 1 [Gene - HGNC]
  • WWP1:WW domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • XKR4:XK related 4 [Gene - HGNC]
  • XKR9:XK related 9 [Gene - HGNC]
  • YTHDF3:YTH N6-methyladenosine RNA binding protein 3 [Gene - OMIM - HGNC]
  • YTHDF3-AS1:YTHDF3 antisense RNA 1 (head to head) [Gene - HGNC]
  • ZFAT-AS1:ZFAT antisense RNA 1 [Gene - HGNC]
  • ZFHX4-AS1:ZFHX4 antisense RNA 1 [Gene - HGNC]
  • ZFPM2-AS1:ZFPM2 antisense RNA 1 [Gene - HGNC]
  • ZHX1-C8orf76:ZHX1-C8orf76 readthrough [Gene - HGNC]
  • ZNNT1:ZNF706 neighboring transcript 1 [Gene - HGNC]
  • ABRA:actin binding Rho activating protein [Gene - OMIM - HGNC]
  • ADCY8:adenylate cyclase 8 [Gene - OMIM - HGNC]
  • AARD:alanine and arginine rich domain containing protein [Gene - HGNC]
  • ADHFE1:alcohol dehydrogenase iron containing 1 [Gene - OMIM - HGNC]
  • TTPA:alpha tocopherol transfer protein [Gene - OMIM - HGNC]
  • ANGPT1:angiopoietin 1 [Gene - OMIM - HGNC]
  • ANKRD46:ankyrin repeat domain 46 [Gene - HGNC]
  • ANXA13:annexin A13 [Gene - OMIM - HGNC]
  • AZIN1:antizyme inhibitor 1 [Gene - OMIM - HGNC]
  • ARMC1:armadillo repeat containing 1 [Gene - HGNC]
  • ASPH:aspartate beta-hydroxylase [Gene - OMIM - HGNC]
  • BHLHE22:basic helix-loop-helix family member e22 [Gene - OMIM - HGNC]
  • PKIA:cAMP-dependent protein kinase inhibitor alpha [Gene - OMIM - HGNC]
  • CDH17:cadherin 17 [Gene - OMIM - HGNC]
  • CALB1:calbindin 1 [Gene - OMIM - HGNC]
  • CASC11:cancer susceptibility 11 [Gene - OMIM - HGNC]
  • CASC19:cancer susceptibility 19 [Gene - OMIM - HGNC]
  • CASC21:cancer susceptibility 21 [Gene - OMIM - HGNC]
  • CASC8:cancer susceptibility 8 [Gene - OMIM - HGNC]
  • CASC9:cancer susceptibility 9 [Gene - HGNC]
  • CA13:carbonic anhydrase 13 [Gene - OMIM - HGNC]
  • CA1:carbonic anhydrase 1 [Gene - OMIM - HGNC]
  • CA2:carbonic anhydrase 2 [Gene - OMIM - HGNC]
  • CA3:carbonic anhydrase 3 [Gene - OMIM - HGNC]
  • CA8:carbonic anhydrase 8 [Gene - OMIM - HGNC]
  • CPA6:carboxypeptidase A6 [Gene - OMIM - HGNC]
  • CPQ:carboxypeptidase Q [Gene - HGNC]
  • CCN3:cellular communication network factor 3 [Gene - OMIM - HGNC]
  • CCN4:cellular communication network factor 4 [Gene - OMIM - HGNC]
  • CSPP1:centrosome and spindle pole associated protein 1 [Gene - OMIM - HGNC]
  • CHMP4C:charged multivesicular body protein 4C [Gene - OMIM - HGNC]
  • CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
  • C8orf34:chromosome 8 open reading frame 34 [Gene - HGNC]
  • C8orf37:chromosome 8 open reading frame 37 [Gene - OMIM - HGNC]
  • C8orf44:chromosome 8 open reading frame 44 [Gene - HGNC]
  • C8orf76:chromosome 8 open reading frame 76 [Gene - HGNC]
  • C8orf87:chromosome 8 open reading frame 87 [Gene - HGNC]
  • C8orf88:chromosome 8 open reading frame 88 [Gene - HGNC]
  • C8orf89:chromosome 8 open reading frame 89 [Gene - HGNC]
  • CLVS1:clavesin 1 [Gene - OMIM - HGNC]
  • CHCHD7:coiled-coil-helix-coiled-coil-helix domain containing 7 [Gene - OMIM - HGNC]
  • CTHRC1:collagen triple helix repeat containing 1 [Gene - OMIM - HGNC]
  • COL14A1:collagen type XIV alpha 1 chain [Gene - OMIM - HGNC]
  • COL22A1:collagen type XXII alpha 1 chain [Gene - OMIM - HGNC]
  • COLEC10:collectin subfamily member 10 [Gene - OMIM - HGNC]
  • CCAT1:colon cancer associated transcript 1 [Gene - OMIM - HGNC]
  • CCAT2:colon cancer associated transcript 2 [Gene - HGNC]
  • CERNA3:competing endogenous lncRNA 3 for miR-645 [Gene - HGNC]
  • CPNE3:copine 3 [Gene - OMIM - HGNC]
  • CRH:corticotropin releasing hormone [Gene - OMIM - HGNC]
  • CNBD1:cyclic nucleotide binding domain containing 1 [Gene - HGNC]
  • CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]
  • CCNE2:cyclin E2 [Gene - OMIM - HGNC]
  • CRISPLD1:cysteine rich secretory protein LCCL domain containing 1 [Gene - HGNC]
  • CYP7A1:cytochrome P450 family 7 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP7B1:cytochrome P450 family 7 subfamily B member 1 [Gene - OMIM - HGNC]
  • COX6C:cytochrome c oxidase subunit 6C [Gene - OMIM - HGNC]
  • DCSTAMP:dendrocyte expressed seven transmembrane protein [Gene - OMIM - HGNC]
  • DERL1:derlin 1 [Gene - OMIM - HGNC]
  • DPYS:dihydropyrimidinase [Gene - OMIM - HGNC]
  • DPY19L4:dpy-19 like 4 [Gene - OMIM - HGNC]
  • ENPP2:ectonucleotide pyrophosphatase/phosphodiesterase 2 [Gene - OMIM - HGNC]
  • ELOC:elongin C [Gene - OMIM - HGNC]
  • ESRP1:epithelial splicing regulatory protein 1 [Gene - OMIM - HGNC]
  • EBAG9:estrogen receptor binding site associated antigen 9 [Gene - OMIM - HGNC]
  • EIF3E:eukaryotic translation initiation factor 3 subunit E [Gene - OMIM - HGNC]
  • EIF3H:eukaryotic translation initiation factor 3 subunit H [Gene - OMIM - HGNC]
  • EXT1:exostosin glycosyltransferase 1 [Gene - OMIM - HGNC]
  • FAM110B:family with sequence similarity 110 member B [Gene - OMIM - HGNC]
  • FAM135B:family with sequence similarity 135 member B [Gene - HGNC]
  • FAM83A:family with sequence similarity 83 member A [Gene - HGNC]
  • FAM91A1:family with sequence similarity 91 member A1 [Gene - HGNC]
  • FABP12:fatty acid binding protein 12 [Gene - HGNC]
  • FABP4:fatty acid binding protein 4 [Gene - OMIM - HGNC]
  • FABP5:fatty acid binding protein 5 [Gene - OMIM - HGNC]
  • FABP9:fatty acid binding protein 9 [Gene - HGNC]
  • FER1L6:fer-1 like family member 6 [Gene - HGNC]
  • FSBP:fibrinogen silencer binding protein [Gene - OMIM - HGNC]
  • FZD6:frizzled class receptor 6 [Gene - OMIM - HGNC]
  • GGH:gamma-glutamyl hydrolase [Gene - OMIM - HGNC]
  • GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
  • GSDMC:gasdermin C [Gene - OMIM - HGNC]
  • ERICH5:glutamate rich 5 [Gene - HGNC]
  • GRHL2:grainyhead like transcription factor 2 [Gene - OMIM - HGNC]
  • GASAL1:growth arrest associated lncRNA 1 [Gene - HGNC]
  • GDF6:growth differentiation factor 6 [Gene - OMIM - HGNC]
  • LOC100130298:hCG1816373-like [Gene]
  • HNF4G:hepatocyte nuclear factor 4 gamma [Gene - OMIM - HGNC]
  • HEY1:hes related family bHLH transcription factor with YRPW motif 1 [Gene - OMIM - HGNC]
  • HAS2:hyaluronan synthase 2 [Gene - OMIM - HGNC]
  • IGLV8OR8-1:immunoglobulin lambda variable 8/OR8-1 (pseudogene) [Gene - HGNC]
  • IMPA1:inositol monophosphatase 1 [Gene - OMIM - HGNC]
  • INTS8:integrator complex subunit 8 [Gene - OMIM - HGNC]
  • IL7:interleukin 7 [Gene - OMIM - HGNC]
  • JPH1:junctophilin 1 [Gene - OMIM - HGNC]
  • KLHL38:kelch like family member 38 [Gene - HGNC]
  • LACTB2:lactamase beta 2 [Gene - HGNC]
  • LRRCC1:leucine rich repeat and coiled-coil centrosomal protein 1 [Gene - OMIM - HGNC]
  • LRRC69:leucine rich repeat containing 69 [Gene - HGNC]
  • LRRC6:leucine rich repeat containing 6 [Gene - OMIM - HGNC]
  • LINC01030:long intergenic non-protein coding RNA 1030 [Gene - HGNC]
  • LINC01111:long intergenic non-protein coding RNA 1111 [Gene - HGNC]
  • LINC01151:long intergenic non-protein coding RNA 1151 [Gene - HGNC]
  • LINC01181:long intergenic non-protein coding RNA 1181 [Gene - HGNC]
  • LINC01289:long intergenic non-protein coding RNA 1289 [Gene - HGNC]
  • LINC01298:long intergenic non-protein coding RNA 1298 [Gene - HGNC]
  • LINC01299:long intergenic non-protein coding RNA 1299 [Gene - HGNC]
  • LINC01301:long intergenic non-protein coding RNA 1301 [Gene - HGNC]
  • LINC01414:long intergenic non-protein coding RNA 1414 [Gene - HGNC]
  • LINC01419:long intergenic non-protein coding RNA 1419 [Gene - HGNC]
  • LINC01591:long intergenic non-protein coding RNA 1591 [Gene - HGNC]
  • LINC01592:long intergenic non-protein coding RNA 1592 [Gene - HGNC]
  • LINC01602:long intergenic non-protein coding RNA 1602 [Gene - HGNC]
  • LINC01603:long intergenic non-protein coding RNA 1603 [Gene - HGNC]
  • LINC01606:long intergenic non-protein coding RNA 1606 [Gene - HGNC]
  • LINC01607:long intergenic non-protein coding RNA 1607 [Gene - HGNC]
  • LINC01608:long intergenic non-protein coding RNA 1608 [Gene - HGNC]
  • LINC01609:long intergenic non-protein coding RNA 1609 [Gene - HGNC]
  • LINC01617:long intergenic non-protein coding RNA 1617 [Gene - HGNC]
  • LINC02055:long intergenic non-protein coding RNA 2055 [Gene - HGNC]
  • LINC02155:long intergenic non-protein coding RNA 2155 [Gene - HGNC]
  • LINC02237:long intergenic non-protein coding RNA 2237 [Gene - HGNC]
  • LINC00251:long intergenic non-protein coding RNA 251 [Gene - HGNC]
  • LINC02605:long intergenic non-protein coding RNA 2605 [Gene - HGNC]
  • LINC02839:long intergenic non-protein coding RNA 2839 [Gene - HGNC]
  • LINC02842:long intergenic non-protein coding RNA 2842 [Gene - HGNC]
  • LINC02844:long intergenic non-protein coding RNA 2844 [Gene - HGNC]
  • LINC02847:long intergenic non-protein coding RNA 2847 [Gene - HGNC]
  • LINC02855:long intergenic non-protein coding RNA 2855 [Gene - HGNC]
  • LINC00293:long intergenic non-protein coding RNA 293 [Gene - OMIM - HGNC]
  • LINC00534:long intergenic non-protein coding RNA 534 [Gene - HGNC]
  • LINC00535:long intergenic non-protein coding RNA 535 [Gene - HGNC]
  • LINC00536:long intergenic non-protein coding RNA 536 [Gene - HGNC]
  • LINC00588:long intergenic non-protein coding RNA 588 [Gene - HGNC]
  • LINC00824:long intergenic non-protein coding RNA 824 [Gene - HGNC]
  • LINC00861:long intergenic non-protein coding RNA 861 [Gene - HGNC]
  • LINC00964:long intergenic non-protein coding RNA 964 [Gene - HGNC]
  • LINC00967:long intergenic non-protein coding RNA 967 [Gene - HGNC]
  • LINC00968:long intergenic non-protein coding RNA 968 [Gene - HGNC]
  • LINC00976:long intergenic non-protein coding RNA 976 [Gene - HGNC]
  • LINC00977:long intergenic non-protein coding RNA 977 [Gene - HGNC]
  • LY96:lymphocyte antigen 96 [Gene - OMIM - HGNC]
  • LYPLA1:lysophospholipase 1 [Gene - OMIM - HGNC]
  • LAPTM4B:lysosomal protein transmembrane 4 beta [Gene - OMIM - HGNC]
  • MAL2:mal, T cell differentiation protein 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • MATN2:matrilin 2 [Gene - OMIM - HGNC]
  • MMP16:matrix metallopeptidase 16 [Gene - OMIM - HGNC]
  • MED30:mediator complex subunit 30 [Gene - OMIM - HGNC]
  • LOC107403242:meiotic recombination hotspot E [Gene]
  • LOC107436008:meiotic recombination hotspot G [Gene]
  • LOC107457586:meiotic recombination hotspot K [Gene]
  • MTDH:metadherin [Gene - OMIM - HGNC]
  • MIR1204:microRNA 1204 [Gene - HGNC]
  • MIR1205:microRNA 1205 [Gene - HGNC]
  • MIR1206:microRNA 1206 [Gene - HGNC]
  • MIR1207:microRNA 1207 [Gene - HGNC]
  • MIR1208:microRNA 1208 [Gene - HGNC]
  • MIR12123:microRNA 12123 [Gene - HGNC]
  • MIR124-2:microRNA 124-2 [Gene - HGNC]
  • MIR1273A:microRNA 1273a [Gene - HGNC]
  • MIR2052:microRNA 2052 [Gene - HGNC]
  • MIR2053:microRNA 2053 [Gene - HGNC]
  • MIR30B:microRNA 30b [Gene - HGNC]
  • MIR30D:microRNA 30d [Gene - HGNC]
  • MIR3149:microRNA 3149 [Gene - HGNC]
  • MIR3150A:microRNA 3150a [Gene - HGNC]
  • MIR3150B:microRNA 3150b [Gene - HGNC]
  • MIR3151:microRNA 3151 [Gene - HGNC]
  • MIR3610:microRNA 3610 [Gene - HGNC]
  • MIR3686:microRNA 3686 [Gene - HGNC]
  • MIR378D2:microRNA 378d-2 [Gene - HGNC]
  • MIR4470:microRNA 4470 [Gene - HGNC]
  • MIR4471:microRNA 4471 [Gene - HGNC]
  • MIR4661:microRNA 4661 [Gene - HGNC]
  • MIR4662A:microRNA 4662a [Gene - HGNC]
  • MIR4662B:microRNA 4662b [Gene - HGNC]
  • MIR4663:microRNA 4663 [Gene - HGNC]
  • MIR5194:microRNA 5194 [Gene - HGNC]
  • MIR548A3:microRNA 548a-3 [Gene - HGNC]
  • MIR548AA1:microRNA 548aa-1 [Gene - HGNC]
  • MIR548AZ:microRNA 548az [Gene - HGNC]
  • MIR548D1:microRNA 548d-1 [Gene - HGNC]
  • MIR5680:microRNA 5680 [Gene - HGNC]
  • MIR5681A:microRNA 5681a [Gene - HGNC]
  • MIR5681B:microRNA 5681b [Gene - HGNC]
  • MIR5708:microRNA 5708 [Gene - HGNC]
  • MIR599:microRNA 599 [Gene - HGNC]
  • MIR6844:microRNA 6844 [Gene - HGNC]
  • MIR7705:microRNA 7705 [Gene - HGNC]
  • MIR7848:microRNA 7848 [Gene - HGNC]
  • MIR8084:microRNA 8084 [Gene - HGNC]
  • MIR875:microRNA 875 [Gene - HGNC]
  • MIR9903:microRNA 9903 [Gene - HGNC]
  • MCM4:minichromosome maintenance complex component 4 [Gene - OMIM - HGNC]
  • MCMDC2:minichromosome maintenance domain containing 2 [Gene - OMIM - HGNC]
  • MTFR1:mitochondrial fission regulator 1 [Gene - HGNC]
  • MRPL13:mitochondrial ribosomal protein L13 [Gene - OMIM - HGNC]
  • MRPL15:mitochondrial ribosomal protein L15 [Gene - OMIM - HGNC]
  • MRPS28:mitochondrial ribosomal protein S28 [Gene - OMIM - HGNC]
  • MTERF3:mitochondrial transcription termination factor 3 [Gene - OMIM - HGNC]
  • MSC:musculin [Gene - OMIM - HGNC]
  • NCALD:neurocalcin delta [Gene - OMIM - HGNC]
  • NPBWR1:neuropeptides B and W receptor 1 [Gene - OMIM - HGNC]
  • NSMAF:neutral sphingomyelinase activation associated factor [Gene - OMIM - HGNC]
  • NBN:nibrin [Gene - OMIM - HGNC]
  • NCRNA00250:non-protein coding RNA 250 [Gene]
  • NCOA2:nuclear receptor coactivator 2 [Gene - OMIM - HGNC]
  • OSR2:odd-skipped related transciption factor 2 [Gene - OMIM - HGNC]
  • OPRK1:opioid receptor kappa 1 [Gene - OMIM - HGNC]
  • LOC107228383:origin of replication S14 [Gene]
  • LOC106903146:origin of replication upstream of MCM4 [Gene]
  • LOC106867047:origin of replication upstream of MYC [Gene]
  • OC90:otoconin 90 [Gene - OMIM - HGNC]
  • ODF1:outer dense fiber of sperm tails 1 [Gene - OMIM - HGNC]
  • OXR1:oxidation resistance 1 [Gene - OMIM - HGNC]
  • OSGIN2:oxidative stress induced growth inhibitor family member 2 [Gene - OMIM - HGNC]
  • PPDPFL:pancreatic progenitor cell differentiation and proliferation factor like [Gene - HGNC]
  • PTCSC1:papillary thyroid carcinoma susceptibility candidate 1 [Gene - OMIM - HGNC]
  • PI15:peptidase inhibitor 15 [Gene - OMIM - HGNC]
  • PMP2:peripheral myelin protein 2 [Gene - OMIM - HGNC]
  • PXDNL:peroxidasin like [Gene - OMIM - HGNC]
  • PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]
  • PREX2:phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 [Gene - OMIM - HGNC]
  • PIP4P2:phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 [Gene - OMIM - HGNC]
  • PTDSS1:phosphatidylserine synthase 1 [Gene - OMIM - HGNC]
  • PDE7A:phosphodiesterase 7A [Gene - OMIM - HGNC]
  • PAG1:phosphoprotein membrane anchor with glycosphingolipid microdomains 1 [Gene - OMIM - HGNC]
  • PLEKHF2:pleckstrin homology and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • PABPC1:poly(A) binding protein cytoplasmic 1 [Gene - OMIM - HGNC]
  • KCNS2:potassium voltage-gated channel modifier subfamily S member 2 [Gene - OMIM - HGNC]
  • KCNV1:potassium voltage-gated channel modifier subfamily V member 1 [Gene - OMIM - HGNC]
  • KCNB2:potassium voltage-gated channel subfamily B member 2 [Gene - OMIM - HGNC]
  • KCNQ3:potassium voltage-gated channel subfamily Q member 3 [Gene - OMIM - HGNC]
  • PENK:proenkephalin [Gene - OMIM - HGNC]
  • PRNCR1:prostate cancer associated non-coding RNA 1 [Gene - OMIM - HGNC]
  • PCAT1:prostate cancer associated transcript 1 [Gene - OMIM - HGNC]
  • PCAT2:prostate cancer associated transcript 2 [Gene - OMIM - HGNC]
  • PRKDC:protein kinase, DNA-activated, catalytic subunit [Gene - OMIM - HGNC]
  • PPP1R42:protein phosphatase 1 regulatory subunit 42 [Gene - OMIM - HGNC]
  • PSKH2:protein serine kinase H2 [Gene - HGNC]
  • PCMTD1:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 [Gene - HGNC]
  • PDP1:pyruvate dehyrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
  • RIDA:reactive intermediate imine deaminase A homolog [Gene - OMIM - HGNC]
  • RIPK2:receptor interacting serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • RIMS2:regulating synaptic membrane exocytosis 2 [Gene - OMIM - HGNC]
  • RGS20:regulator of G protein signaling 20 [Gene - OMIM - HGNC]
  • RGS22:regulator of G protein signaling 22 [Gene - OMIM - HGNC]
  • RMDN1:regulator of microtubule dynamics 1 [Gene - OMIM - HGNC]
  • RDH10:retinol dehydrogenase 10 [Gene - OMIM - HGNC]
  • RRM2B:ribonucleotide reductase regulatory TP53 inducible subunit M2B [Gene - OMIM - HGNC]
  • RBIS:ribosomal biogenesis factor [Gene - HGNC]
  • RPL30:ribosomal protein L30 [Gene - OMIM - HGNC]
  • RPL7:ribosomal protein L7 [Gene - OMIM - HGNC]
  • RPS20:ribosomal protein S20 [Gene - OMIM - HGNC]
  • RRS1:ribosome biogenesis regulator 1 homolog [Gene - OMIM - HGNC]
  • RNF139:ring finger protein 139 [Gene - OMIM - HGNC]
  • RNF19A:ring finger protein 19A, RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • SPIDR:scaffold protein involved in DNA repair [Gene - OMIM - HGNC]
  • STK3:serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • SGK3:serum/glucocorticoid regulated kinase family member 3 [Gene - OMIM - HGNC]
  • SDR16C5:short chain dehydrogenase/reductase family 16C member 5 [Gene - OMIM - HGNC]
  • SNHG6:small nucleolar RNA host gene 6 [Gene - OMIM - HGNC]
  • SNORD168:small nucleolar RNA, C/D box 168 [Gene - HGNC]
  • SNORD173:small nucleolar RNA, C/D box 173 [Gene - HGNC]
  • SNORD3H:small nucleolar RNA, C/D box 3H [Gene - HGNC]
  • SNORD54:small nucleolar RNA, C/D box 54 [Gene - HGNC]
  • SNORD77B:small nucleolar RNA, C/D box 77B [Gene - HGNC]
  • SNORD87:small nucleolar RNA, C/D box 87 [Gene - OMIM - HGNC]
  • SNORA1B:small nucleolar RNA, H/ACA box 1B [Gene - HGNC]
  • SNORA72:small nucleolar RNA, H/ACA box 72 [Gene - HGNC]
  • SMILR:smooth muscle induced lncRNA, enhancer of proliferation [Gene - HGNC]
  • SNAI2:snail family transcriptional repressor 2 [Gene - OMIM - HGNC]
  • NKAIN3:sodium/potassium transporting ATPase interacting 3 [Gene - OMIM - HGNC]
  • SLC10A5:solute carrier family 10 member 5 [Gene - OMIM - HGNC]
  • SLC25A32:solute carrier family 25 member 32 [Gene - OMIM - HGNC]
  • SLC26A7:solute carrier family 26 member 7 [Gene - OMIM - HGNC]
  • SLC30A8:solute carrier family 30 member 8 [Gene - OMIM - HGNC]
  • SLC7A13:solute carrier family 7 member 13 [Gene - OMIM - HGNC]
  • SLCO5A1:solute carrier organic anion transporter family member 5A1 [Gene - OMIM - HGNC]
  • SBSPON:somatomedin B and thrombospondin type 1 domain containing [Gene - HGNC]
  • SNX16:sorting nexin 16 [Gene - OMIM - HGNC]
  • SNX31:sorting nexin 31 [Gene - HGNC]
  • SPAG1:sperm associated antigen 1 [Gene - OMIM - HGNC]
  • SQLE:squalene epoxidase [Gene - OMIM - HGNC]
  • STMN2:stathmin 2 [Gene - OMIM - HGNC]
  • STAU2:staufen double-stranded RNA binding protein 2 [Gene - OMIM - HGNC]
  • SAMD12:sterile alpha motif domain containing 12 [Gene - OMIM - HGNC]
  • SULF1:sulfatase 1 [Gene - OMIM - HGNC]
  • SDC2:syndecan 2 [Gene - OMIM - HGNC]
  • SDCBP:syndecan binding protein [Gene - OMIM - HGNC]
  • SYBU:syntabulin [Gene - OMIM - HGNC]
  • SNTB1:syntrophin beta 1 [Gene - OMIM - HGNC]
  • SNTG1:syntrophin gamma 1 [Gene - OMIM - HGNC]
  • TRMT12:tRNA methyltransferase 12 homolog [Gene - OMIM - HGNC]
  • TRA-AGC8-2:tRNA-Ala (anticodon AGC) 8-2 [Gene - HGNC]
  • TRM-CAT1-1:tRNA-Met (anticodon CAT) 1-1 [Gene - HGNC]
  • TRS-AGA2-5:tRNA-Ser (anticodon AGA) 2-5 [Gene - HGNC]
  • TRY-GTA5-1:tRNA-Tyr (anticodon GTA) 5-1 [Gene - HGNC]
  • TRY-GTA5-2:tRNA-Tyr (anticodon GTA) 5-2 [Gene - HGNC]
  • TERF1:telomeric repeat binding factor 1 [Gene - OMIM - HGNC]
  • TOX:thymocyte selection associated high mobility group box [Gene - OMIM - HGNC]
  • TG:thyroglobulin [Gene - OMIM - HGNC]
  • TRHR:thyrotropin releasing hormone receptor [Gene - OMIM - HGNC]
  • TCEA1:transcription elongation factor A1 [Gene - OMIM - HGNC]
  • TCF24:transcription factor 24 [Gene - HGNC]
  • TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]
  • TRPA1:transient receptor potential cation channel subfamily A member 1 [Gene - OMIM - HGNC]
  • LOC100129098:translation initiation factor IF-2 [Gene]
  • TRAM1:translocation associated membrane protein 1 [Gene - OMIM - HGNC]
  • TMEM64:transmembrane protein 64 [Gene - HGNC]
  • TMEM65:transmembrane protein 65 [Gene - OMIM - HGNC]
  • TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]
  • TMEM68:transmembrane protein 68 [Gene - HGNC]
  • TMEM70:transmembrane protein 70 [Gene - OMIM - HGNC]
  • TMEM71:transmembrane protein 71 [Gene - HGNC]
  • TMEM74:transmembrane protein 74 [Gene - OMIM - HGNC]
  • TMEM75:transmembrane protein 75 [Gene - HGNC]
  • TRIB1:tribbles pseudokinase 1 [Gene - OMIM - HGNC]
  • TGS1:trimethylguanosine synthase 1 [Gene - OMIM - HGNC]
  • TRIM55:tripartite motif containing 55 [Gene - OMIM - HGNC]
  • TRIQK:triple QxxK/R motif containing [Gene - HGNC]
  • TPD52:tumor protein D52 [Gene - OMIM - HGNC]
  • TP53INP1:tumor protein p53 inducible nuclear protein 1 [Gene - OMIM - HGNC]
  • YWHAZ:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta [Gene - OMIM - HGNC]
  • UQCRB:ubiquinol-cytochrome c reductase binding protein [Gene - OMIM - HGNC]
  • UBE2V2:ubiquitin conjugating enzyme E2 V2 [Gene - OMIM - HGNC]
  • UBE2W:ubiquitin conjugating enzyme E2 W [Gene - OMIM - HGNC]
  • UBR5:ubiquitin protein ligase E3 component n-recognin 5 [Gene - OMIM - HGNC]
  • LOC100132813:uncharacterized LOC100132813 [Gene]
  • LOC100287846:uncharacterized LOC100287846 [Gene]
  • LOC100288748:uncharacterized LOC100288748 [Gene]
  • LOC100505501:uncharacterized LOC100505501 [Gene]
  • LOC100507464:uncharacterized LOC100507464 [Gene]
  • LOC100507516:uncharacterized LOC100507516 [Gene]
  • LOC101926892:uncharacterized LOC101926892 [Gene]
  • LOC101926908:uncharacterized LOC101926908 [Gene]
  • LOC101927040:uncharacterized LOC101927040 [Gene]
  • LOC101927066:uncharacterized LOC101927066 [Gene]
  • LOC101927141:uncharacterized LOC101927141 [Gene]
  • LOC101927245:uncharacterized LOC101927245 [Gene]
  • LOC101927513:uncharacterized LOC101927513 [Gene]
  • LOC101927543:uncharacterized LOC101927543 [Gene]
  • LOC101927588:uncharacterized LOC101927588 [Gene]
  • LOC101927657:uncharacterized LOC101927657 [Gene]
  • LOC101927798:uncharacterized LOC101927798 [Gene]
  • LOC101927822:uncharacterized LOC101927822 [Gene]
  • LOC101927845:uncharacterized LOC101927845 [Gene]
  • LOC101927915:uncharacterized LOC101927915 [Gene]
  • LOC101929217:uncharacterized LOC101929217 [Gene]
  • LOC101929268:uncharacterized LOC101929268 [Gene]
  • LOC101929341:uncharacterized LOC101929341 [Gene]
  • LOC101929415:uncharacterized LOC101929415 [Gene]
  • LOC101929488:uncharacterized LOC101929488 [Gene]
  • LOC101929528:uncharacterized LOC101929528 [Gene]
  • LOC101929709:uncharacterized LOC101929709 [Gene]
  • LOC102723322:uncharacterized LOC102723322 [Gene]
  • LOC102724612:uncharacterized LOC102724612 [Gene]
  • LOC102724708:uncharacterized LOC102724708 [Gene]
  • LOC102724710:uncharacterized LOC102724710 [Gene]
  • LOC102724804:uncharacterized LOC102724804 [Gene]
  • LOC102724874:uncharacterized LOC102724874 [Gene]
  • LOC104054148:uncharacterized LOC104054148 [Gene]
  • LOC105369147:uncharacterized LOC105369147 [Gene]
  • LOC105375690:uncharacterized LOC105375690 [Gene]
  • LOC105375713:uncharacterized LOC105375713 [Gene]
  • LOC105375744:uncharacterized LOC105375744 [Gene]
  • LOC105375773:uncharacterized LOC105375773 [Gene]
  • LOC105375843:uncharacterized LOC105375843 [Gene]
  • LOC286177:uncharacterized LOC286177 [Gene]
  • LOC286178:uncharacterized LOC286178 [Gene]
  • LOC401463:uncharacterized LOC401463 [Gene]
  • LOC401478:uncharacterized LOC401478 [Gene]
  • FLJ46284:uncharacterized LOC441369 [Gene]
  • FLJ42969:uncharacterized LOC441374 [Gene]
  • VPS13B:vacuolar protein sorting 13 homolog B [Gene - OMIM - HGNC]
  • VCPIP1:valosin containing protein interacting protein 1 [Gene - OMIM - HGNC]
  • VXN:vexin [Gene - HGNC]
  • VIRMA:vir like m6A methyltransferase associated [Gene - OMIM - HGNC]
  • ZFAND1:zinc finger AN1-type containing 1 [Gene - HGNC]
  • ZC2HC1A:zinc finger C2HC-type containing 1A [Gene - HGNC]
  • ZFAT:zinc finger and AT-hook domain containing [Gene - OMIM - HGNC]
  • ZBTB10:zinc finger and BTB domain containing 10 [Gene - OMIM - HGNC]
  • ZFHX4:zinc finger homeobox 4 [Gene - OMIM - HGNC]
  • ZNF572:zinc finger protein 572 [Gene - HGNC]
  • ZNF704:zinc finger protein 704 [Gene - HGNC]
  • ZNF706:zinc finger protein 706 [Gene - HGNC]
  • ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]
  • ZHX1:zinc fingers and homeoboxes 1 [Gene - OMIM - HGNC]
  • ZHX2:zinc fingers and homeoboxes 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q11.1-24.3
Genomic location:
Preferred name:
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3
HGVS:
  • NC_000008.11:g.(?_46031340)_(139285494_?)dup
  • NC_000008.10:g.(?_46942962)_(140297737_?)dup
  • NC_000008.9:g.(?_47062127)_(140366919_?)dup
Links:
dbVar: nssv1603777; dbVar: nsv917011
Observations:
1

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
SCV000180105ISCA site 4

See additional submitters

no assertion criteria providedPathogenic
(Sep 21, 2012)
not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000180105

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 4, SCV000180105.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jan 9, 2020

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